ENSID HGNC PMID Gene-disease Disease OMIM ID Disease name PMID Disease ENSG00000188536 HBA2 1115799 604131 "Thalassemia, alpha-" 1115799 ENSG00000206172 HBA1 909779 604131 "Thalassemias, alpha-" 909779 ENSG00000052850 ALX4 11106354 609597 Parietal foramina 2 11106354 ENSG00000102081 FMR1 1675488 300624 Fragile X syndrome 1675488 ENSG00000047457 CP 3574673 604290 Cerebellar ataxia 3574673 ENSG00000047457 CP 3574673 604290 "Hemosiderosis, systemic, due to aceruloplasminemia" 3574673 ENSG00000154743 TSEN2 18711368 612389 Pontocerebellar hypoplasia type 2B 18711368 ENSG00000198734 F5 8164741 188055 Thrombophilia due to activated protein C resistance 8164741 ENSG00000166206 GABRB3 23934111 617113 "Epileptic encephalopathy, early infantile, 43" 23934111 ENSG00000101966 XIAP 17080092 300635 "Lymphoproliferative syndrome, X-linked, 2" 17080092 ENSG00000105991 HOXA1 16155570 601536 Athabaskan brainstem dysgenesis syndrome 16155570 ENSG00000105991 HOXA1 16155570 601536 "Bosley-Salih-Alorainy syndrome, " 16155570 ENSG00000161011 SQSTM1 22084127 616437 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 22084127 ENSG00000132781 MUTYH 11818965 608456 "Adenomas, multiple colorectal" 11818965 ENSG00000108556 CHRNE 8957026 608931 "Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency" 8957026 ENSG00000163513 TGFBR2 15235604 610168 Loeys-Dietz syndrome 2 15235604 ENSG00000160877 NACC1 28132692 617393 "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" 28132692 ENSG00000108176 DNAJC12 28132689 617384 "Hyperphenylalaninemia, mild, non-BH4-deficient" 28132689 ENSG00000137802 MAPKBP1 28089251 617271 Nephronophthisis 20 28089251 ENSG00000138347 MYPN 28017374 617336 "Nemaline myopathy 11, autosomal recessive" 28017374 ENSG00000108001 EBF3 28017373 617330 "Hypotonia, ataxia, and delayed development syndrome" 28017373 ENSG00000146701 MDH2 27989324 617339 "Epileptic encephalopathy, early infantile, 51" 27989324 ENSG00000163848 ZNF148 27964749 617260 "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" 27964749 ENSG00000127152 BCL11B 27959755 617237 Immunodeficiency 49 27959755 ENSG00000156983 BRPF1 27939640 617333 Intellectual developmental disorder with dysmorphic facies and ptosis 27939640 ENSG00000147471 PLPBP 27912044 617290 "Epilepsy, early-onset, vitamin B6-dependent" 27912044 ENSG00000187098 MITF 27889061 617306 COMMAD syndrome 27889061 ENSG00000103723 AP3B2 27889060 617276 "Epileptic encephalopathy, early infantile, 48" 27889060 ENSG00000115255 REEP6 27889058 617304 Retinitis pigmentosa 77 27889058 ENSG00000159450 TCHH 27866708 617252 Uncombable hair syndrome 3 27866708 ENSG00000184014 DENND5A 27866705 617281 "Epileptic encephalopathy, early infantile, 49" 27866705 ENSG00000272333 KMT2B 27839873 617284 "Dystonia 28, childhood-onset" 27839873 ENSG00000160111 CPAMD8 27839872 617319 Anterior segement dysgenesis 8 27839872 ENSG00000116353 MECR 27817865 617282 "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" 27817865 ENSG00000163389 POGLUT1 27807076 617232 "Muscular dystrophy, limb-girdle, type 2Z" 27807076 ENSG00000027001 MIPEP 27799064 617228 Combined oxidative phosphorylation deficiency 31 27799064 ENSG00000114796 KLHL24 27798626 617294 "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" 27798626 ENSG00000139324 TMTC3 27773428 617255 Lissencephaly 8 27773428 ENSG00000124827 GCM2 27745835 617343 Hyperparathyroidism 4 27745835 ENSG00000121350 PYROXD1 27745833 617258 "Myopathy, myofibrillar, 8" 27745833 ENSG00000182326 C1S 27745832 617174 "Ehlers-Danlos syndrome, periodontal type, 2" 27745832 ENSG00000049759 NEDD4L 27694961 617201 Periventricular nodular heterotopia 7 27694961 ENSG00000151729 SLC25A4 27693233 617184 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 27693233 ENSG00000141556 TBCD 27666374 617193 "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" 27666374 ENSG00000154864 PIEZO2 27653382 617146 "Arthrogryposis, distal, with impaired proprioception and touch" 27653382 ENSG00000168306 ACOX2 27647924 617308 "Bile acid synthesis defect, congenital, 6" 27647924 ENSG00000197785 ATAD3A 27640307 617183 Harel-Yoon syndrome 27640307 ENSG00000167098 SUN5 27640305 617187 Spermatogenic failure 16 27640305 ENSG00000105464 GRIN2D 27616483 617162 "Epileptic encephalopathy, early infantile, 46" 27616483 ENSG00000186417 GLDN 27616481 617194 Lethal congenital contracture syndrome 11 27616481 ENSG00000148019 CEP78 27588451 617236 Cone-rod dystrophy and hearing loss 27588451 ENSG00000196549 MME 27583304 617018 Spinocerebellar ataxia 43 27583304 ENSG00000115665 SLC5A7 27569547 617143 "Myasthenic syndrome, congenital" 27569547 ENSG00000161011 SQSTM1 27545679 617145 "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" 27545679 ENSG00000276747 PADI6 27545678 617234 Preimplantation embryonic lethality 2 27545678 ENSG00000126945 HNRPH2 27545675 300986 "Mental retardation, X-linked, syndromic, Bain type" 27545675 ENSG00000081307 UBA5 27545674 617132 "Epileptic encephalopathy, early infantile, 44" 27545674 ENSG00000154124 OTULIN 27523608 617099 "Autoinflammation, panniculitis, and dermatosis syndrome" 27523608 ENSG00000069966 GNB5 27523599 617173 Intellectual developmental disorder with cardiac arrhythmia 27523599 ENSG00000138777 PPA2 27523598 617222 "Sudden cardiac failure, infantile" 27523598 ENSG00000138777 PPA2 27523597 617223 "Sudden cardiac failure, alcohol-induced" 27523597 ENSG00000136758 YME1L1 27495975 617302 Optic atrophy 11 27495975 ENSG00000187726 DNAJB13 27486783 617091 "Ciliary dyskinesia, primary, 34" 27486783 ENSG00000136144 RCBTB1 27486781 617175 Retinal dystrophy with or without extraocular anomalies 27486781 ENSG00000204815 TTC25 27486780 617092 "Ciliary dyskinesia, primary, 35" 27486780 ENSG00000065883 CDK13 27479907 617360 "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder " 27479907 ENSG00000111642 CHD4 27479907 617159 Sifrim-Hitz-Weiss syndrome 27479907 ENSG00000184304 PRKD1 27479907 617364 Congenital heart defects and ectodermal dysplasia 27479907 ENSG00000173698 ADGRG2 27476656 300985 "Vas deferens, congenital bilateral aplasia of, X-linked" 27476656 ENSG00000113318 MSH3 27476653 617100 Familial adenomatous polyposis 4 27476653 ENSG00000166401 SERPINB8 27476651 617115 Peeling skin syndrome 5 27476651 ENSG00000159082 SYNJ1 27435091 617389 "Epileptic encephalopathy, early infantile, 53" 27435091 ENSG00000107960 STN1 27432940 617341 Cerebroretinal microangiopathy with calcifications and cysts 2 27432940 ENSG00000185115 NSMCE3 27427983 617241 "Lung disease, immunodeficiency, and chromosome breakage syndrome" 27427983 ENSG00000196305 IARS 27426735 617093 "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" 27426735 ENSG00000147065 MSN 27405666 300988 Immunodeficiency 50 27405666 ENSG00000122550 KLHL7 27392078 617055 Cold-induced sweating syndrome 3 27392078 ENSG00000058262 SEC61A1 27392076 617056 "Hyperuricemic nephropathy, familial juvenile, 4" 27392076 ENSG00000093009 CDC45L 27374770 617063 Meier-Gorlin syndrome 7 27374770 ENSG00000111199 TRPV4 27330106 617383 "?Avascular necrosis of femoral head, primary, 2" 27330106 ENSG00000169884 WNT10B 27321946 617073 "Tooth agenesis, selective, 8" 27321946 ENSG00000146038 DCDC2 27319779 617394 "Sclerosing cholangitis, neonatal" 27319779 ENSG00000103043 VAC14 27292112 617054 "Striatonigral degeneration, childhood-onset" 27292112 ENSG00000079335 CDC14A 27259055 616958 "Deafness, autosomal recessive 105" 27259055 ENSG00000163931 TKT 27259054 617044 "Short stature, developmental delay, and congenital heart defects" 27259054 ENSG00000089597 GANAB 27259053 600666 Polycyctic kidney disease 3 27259053 ENSG00000104635 SLC39A14 27231142 617013 Hypermanganesemia with dystonia 2 27231142 ENSG00000071553 ATP6AP1 27231034 300972 Immunodeficiency 47 27231034 ENSG00000159363 ATP13A2 27217339 617225 "Spastic paraplegia 78, autosomal recessive" 27217339 ENSG00000115317 HTRA2 27208207 617248 "3-methylglutaconic aciduria, type VIII" 27208207 ENSG00000205413 SAMD9 27182967 617053 MIRAGE syndrome 27182967 ENSG00000204103 MAFB 27181683 617041 Duane retraction syndrome 3 27181683 ENSG00000114279 FGF12 27164707 617166 "Epileptic encephalopathy, early infantile, 47" 27164707 ENSG00000014216 CAPN1 27153400 616907 "Spastic paraplegia 76, autosomal recessive" 27153400 ENSG00000100726 TELO2 27132593 616954 You-Hoover-Fong syndrome 27132593 ENSG00000174173 TRMT10C 27132592 616974 Combined oxidative phosphorylation deficiency 30 27132592 ENSG00000163382 NAXE 27122014 617186 "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" 27122014 ENSG00000111664 GNB3 27063057 617024 "Night blindness, congenital stationary, type 1H" 27063057 ENSG00000112541 PDE10A 27058447 616922 "Striatal degeneration, autosomal dominant" 27058447 ENSG00000112541 PDE10A 27058446 616921 "Dyskinesia, limb and orofacial, infantile-onset" 27058446 ENSG00000110060 PUS3 27055666 617051 "Mental retardation, autosomal recessive 55" 27055666 ENSG00000183762 KREMEN1 27049303 617392 "Ectodermal dysplasia 13, hair/tooth type" 27049303 ENSG00000101266 CSNK2A1 27048600 617062 Okur-Chung neurodevelopmental syndrome 27048600 ENSG00000105771 SMG9 27018474 616920 Heart and brain malformation syndrome 27018474 ENSG00000103671 TRIP4 27008887 617066 "Muscular dystrophy, congenital, Davignon-Chauveau type" 27008887 ENSG00000197265 GTF2E2 26996949 616943 "Trichothiodystrophy 6, nonphotosensitive" 26996949 ENSG00000174227 PIGG 26996948 616917 "Mental retardation, autosomal recessive 53" 26996948 ENSG00000127463 EMC1 26942288 616875 "Cerebellar atrophy, visual impairment, and psychomotor retardation" 26942288 ENSG00000197122 SRC 26936507 616937 Thrombocytopenia 6 26936507 ENSG00000164933 SLC25A32 26933868 616839 "Exercise intolerance, riboflavin-responsive" 26933868 ENSG00000161202 DVL3 26924530 616894 "Robinow syndrome, autosomal dominant 3" 26924530 ENSG00000103671 TRIP4 26924529 616866 Spinal muscular atrophy with congenital bone fractures 1 26924529 ENSG00000138303 ASCC1 26924529 616867 Spinal muscular atrophy with congenital bone fractures 2 26924529 ENSG00000119638 NEK9 26908619 617022 Lethal congenital contracture syndrome 10 26908619 ENSG00000085998 POMGNT1 26908613 617123 Retinitis pigmentosa 76 26908613 ENSG00000049246 PER3 26903630 616882 "Advanced sleep phase syndrome, familial, 3" 26903630 ENSG00000102900 NUP93 26878725 616892 "Nephrotic syndrome, type 12" 26878725 ENSG00000155561 NUP205 26878725 616893 "Nephrotic syndrome, type 13" 26878725 ENSG00000081307 UBA5 26872069 617133 "Spinocerebellar ataxia, autosomal recessive 24" 26872069 ENSG00000113083 LOX 26838787 617168 "Aortic aneurysm, familial thoracic 10" 26838787 ENSG00000183597 TANGO2 26805781 616878 "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" 26805781 ENSG00000261456 TUBB8 26789871 616780 Oocyte maturation defect 2 26789871 ENSG00000115085 ZAP70 26783323 617006 "Autoimmune disease, multisystem, infantile-onset, 2" 26783323 ENSG00000091436 MAP3K20 26755636 616890 Split-foot malformation with mesoaxial polydactyly 26755636 ENSG00000139151 PLCZ1 26721930 617214 Spermatogenic failure 17 26721930 ENSG00000084693 AGBL5 26720455 617023 Retinitis pigmentosa 75 26720455 ENSG00000047578 KIAA0556 26714646 616784 Joubert syndrome 26714646 ENSG00000072274 TFRC 26642240 616740 Immunodeficiency 46 26642240 ENSG00000147133 TAF1 26637982 300966 "Mental retardation, X-linked, syndromic 33" 26637982 ENSG00000130347 RTN4IP1 26593267 616732 "Optic atrophy 10 with or without ataxia, mental retardation, and seizures" 26593267 ENSG00000147140 NONO 26571461 300967 "Mental retardation, X-linked, syndromic 34" 26571461 ENSG00000114988 LMAN2L 26566883 616887 "Mental retardation, autosomal recessive, 52" 26566883 ENSG00000011376 LARS2 26537577 617021 "Hydrops, lactic acidosis, and sideroblastic anemia" 26537577 ENSG00000104953 TLE6 26537248 616814 Preimplantation embryonic lethality 26537248 ENSG00000101310 SEC23B 26522472 616858 Cowden syndrome 7 26522472 ENSG00000049130 KITLG 26522471 616697 "Deafness, autosomal dominant 69, unilateral or asymmetric " 26522471 ENSG00000144741 SLC25A26 26522469 616794 Combined oxidative phosphorylation deficiency 28 26522469 ENSG00000185100 ADSSL1 26506222 617030 "Myopathy, distal, 5" 26506222 ENSG00000116198 CEP104 26477546 616781 Joubert syndrome 25 26477546 ENSG00000006283 CACNA1G 26456284 616795 Spinocerebellar ataxia 42 26456284 ENSG00000132600 PRMT7 26437029 617157 "Short stature, brachydactyly, intellectual developmental disability, and seizures" 26437029 ENSG00000154485 MMP21 26429889 616749 "Heterotaxy, visceral, 7, autosomal" 26429889 ENSG00000159110 IFNAR2 26424569 616669 Immunodeficiency 45 26424569 ENSG00000085382 HACE1 26424145 616756 Spastic paraplegia and psychomotor retardation with or without seizures 26424145 ENSG00000166326 TRIM44 26394807 617142 Aniridia 3 26394807 ENSG00000070018 LRP6 26387593 616724 "Tooth agenesis, selective, 7" 26387593 ENSG00000159579 RSPRY1 26365341 616723 "Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type" 26365341 ENSG00000169762 TAPT1 26365339 616897 "Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type" 26365339 ENSG00000154781 CCDC174 26358778 616816 "Hypotonia, infantile, with psychomotor retardation" 26358778 ENSG00000103335 PIEZO1 26333996 616843 "Lymphedema, hereditary, III" 26333996 ENSG00000124140 SLC12A5 26333769 616645 "Epileptic encephalopathy, early infantile, 34" 26333769 ENSG00000160695 VPS11 26307567 616683 "Leukodystrophy, hypomyelinating, 12" 26307567 ENSG00000145375 SPATA5 26299366 616577 "Epilepsy, hearing loss, and mental retardation syndrome" 26299366 ENSG00000255072 PIGY 26293662 616809 Hyperphosphatasia with mental retardation syndrome 6 26293662 ENSG00000236320 SLFN14 26280575 616913 "Bleeding disorder, platelet-type" 26280575 ENSG00000151348 EXT2 26246518 616682 "Seizures, scoliosis, and macrocephaly syndrome" 26246518 ENSG00000215301 DDX3X 26235985 300958 "Mental retardation, X-linked 102" 26235985 ENSG00000125877 ITPA 26224535 616647 "Epileptic encephalopathy, early infantile, 35" 26224535 ENSG00000148702 HABP2 26222560 616535 "Thyroid cancer, nonmedullary, 5" 26222560 ENSG00000225830 ERCC6 26218421 616946 Premature ovarian failure 11 26218421 ENSG00000119969 HELLS 26216346 616911 Immunodeficiency-centromeric instability-facial anomalies syndrome 4 26216346 ENSG00000161011 SQSTM1 26208961 617158 "Myopathy, distal, with rimmed vacuoles" 26208961 ENSG00000150540 HNMT 26206890 616739 "Mental retardation, autosomal recessive 51" 26206890 ENSG00000135535 CD164 26197441 616969 "Deafness, autosomal dominant 66" 26197441 ENSG00000073111 MCM2 26196677 616968 "Deafness, autosomal dominant 70" 26196677 ENSG00000165119 HNRNPK 26173930 616580 Au-Kline syndrome 26173930 ENSG00000164209 SLC25A46 26168012 616505 "Neuropathy, hereditary motor and sensory, type VIB" 26168012 ENSG00000204897 KRT25 26160856 616760 "Woolly hair, autosomal recessive 3" 26160856 ENSG00000158615 PPP1R15B 26159176 616817 "Microcephaly, short stature, and impaired glucose metabolism 2" 26159176 ENSG00000167244 IGF2 26154720 616489 "Growth restriction, severe, with distinctive facies" 26154720 ENSG00000171453 POLR1C 26151409 616494 "Leukodystrophy, hypomyelinating, 11" 26151409 ENSG00000100578 KIAA0586 26096313 616490 Joubert syndrome 23 26096313 ENSG00000171865 RNASEH1 26094573 616479 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" 26094573 ENSG00000167186 COQ7 26084283 616733 "Coenzyme Q10 deficiency, primary, 8" 26084283 ENSG00000134516 DOCK2 26083206 616433 Immunodeficiency 40 26083206 ENSG00000130363 RSPH3 26073779 616481 "Ciliary dyskinesia, primary, 32" 26073779 ENSG00000151779 NBAS 26073778 616483 Infantile liver failure syndrome 2 26073778 ENSG00000118217 ATF6 26063662 616517 Achromatopsia 7 26063662 ENSG00000166033 HTRA1 26063658 616779 "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" 26063658 ENSG00000207935 MIR204 26056285 616722 Retinal dystrophy and iris coloboma with or without cataract 26056285 ENSG00000177030 DEAF1 26048982 617171 "Dyskinesia, seizures, and intellectual developmental disorder" 26048982 ENSG00000189056 RELN 26046367 616436 "Epilepsy, familial temporal lobe, 7" 26046367 ENSG00000118217 ATF6 26029869 616517 Achromatopsia 7 26029869 ENSG00000113140 SPARC 26027498 616507 "Osteogenesis imperfecta, type XVII" 26027498 ENSG00000059573 ALDH18A1 26026163 616586 "Spastic paraplegia 9B, autosomal recessive" 26026163 ENSG00000130711 PRDM12 26005867 616488 "Neuropathy, hereditary sensory and autonomic, type VIII" 26005867 ENSG00000112414 ADGRG6 26004201 616503 Lethal congenital contracture syndrome 9 26004201 ENSG00000163359 COL6A3 26004199 616411 Dystonia 27 26004199 ENSG00000156171 DRAM2 25983245 616502 Cone-rod dystrophy 21 25983245 ENSG00000100379 KCTD17 25983243 616398 Dystonia 26 25983243 ENSG00000108813 DLX4 25954033 616788 Orofacial cleft 15 25954033 ENSG00000176619 LMNB2 25954030 616540 "Epilepsy, progressive myoclonic, 9" 25954030 ENSG00000105976 MET 25941349 616705 "Deafness, autosomal recessive 97" 25941349 ENSG00000065057 NTHL1 25938944 616415 Familial adenomatous polyposis 3 25938944 ENSG00000115902 SLC1A4 25930971 616657 "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly" 25930971 ENSG00000138207 RBP4 25910211 616428 "Microphthalmia, isolated, with coloboma 10" 25910211 ENSG00000196557 CACNA1H 25907736 617027 "Hyperaldosteronism, familial, type IV" 25907736 ENSG00000171772 SYCE1 25899990 616950 Spermatogenic failure 15 25899990 ENSG00000122218 COPA 25894502 616414 "Autoimmune interstitial lung, joint, and kidney disease" 25894502 ENSG00000140694 PARN 25893599 616353 "Dyskeratosis congenita, autosomal recessive 6" 25893599 ENSG00000175213 ZNF408 25882705 616469 Retinitis pigmentosa 72 25882705 ENSG00000143811 PYCR2 25865492 616420 "Leukodystrophy, hypomyelinating, 10" 25865492 ENSG00000165102 HGSNAT 25859010 616544 Retinitis pigmentosa 73 25859010 ENSG00000241973 PI4KA 25855803 616531 "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" 25855803 ENSG00000140694 PARN 25848748 616371 "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" 25848748 ENSG00000142178 SIK1 25839329 616341 "Epileptic encephalopathy, early infantile" 25839329 ENSG00000137822 TUBGCP4 25817018 616335 "Microcephaly and chorioretinopathy, autosomal recessive, 3" 25817018 ENSG00000090861 AARS 25817015 616339 "Epileptic encephalopathy, early infantile, 29" 25817015 ENSG00000103942 HOMER2 25816005 616707 "Deafness, autosomal dominant 68" 25816005 ENSG00000105738 SIPA1L3 25804400 616851 Cataract 45 25804400 ENSG00000104973 MED25 25792360 616449 Basel-Vanagait-Smirin-Yosef syndrome 25792360 ENSG00000147123 NDUFB11 25772934 300952 Linear skin defects with multiple congenital anomalies 3 25772934 ENSG00000138696 BMPR1B 25758993 616849 "Brachydactyly, type A1, D" 25758993 ENSG00000166123 GPT2 25758935 616281 "Mental retardation, autosomal recessive 49" 25758935 ENSG00000247626 MARS2 25754315 616430 Combined oxidative phosphorylation deficiency 25 25754315 ENSG00000115266 APC2 25753423 617169 Sotos syndrome 3 25753423 ENSG00000131263 RLIM 25735484 300978 "Mental retardation, X-linked 61" 25735484 ENSG00000072364 AFF4 25730767 616368 CHOPS syndrome 25730767 ENSG00000083168 KAT6A 25728775 616268 "Mental retardation, autosomal dominant 32, " 25728775 ENSG00000039650 PNKP 25728773 616267 Ataxia-oculomotor apraxia 4 25728773 ENSG00000178209 PLEC 25712130 616487 Epidermolysis bullosa simplex with nail dystrophy 25712130 ENSG00000110063 DCPS 25712129 616459 Al-Raqad syndrome 25712129 ENSG00000197106 SLC6A17 25704603 616269 "Mental retardation, autosomal recessive 48" 25704603 ENSG00000179151 EDC3 25701870 616460 "Mental retardation, autosomal recessive 50" 25701870 ENSG00000183735 TBK1 25700176 616439 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 25700176 ENSG00000069482 GAL 25691535 616461 "Epilepsy, familial temporal lobe, 8" 25691535 ENSG00000150961 SEC24D 25683121 616294 Cole-Carpenter syndrome 2 25683121 ENSG00000102452 NALCN 25683120 616266 "Congenital contractures of the limbs and face, hypotonia, and developmental delay" 25683120 ENSG00000084774 CAD 25678555 616457 "Epileptic encephalopathy, early infantile, 50" 25678555 ENSG00000197417 SHPK 25647543 617213 Sedoheptulokinase deficiency 25647543 ENSG00000169933 FRMPD4 25644381 300983 "Mental retardation, X-linked 104" 25644381 ENSG00000273820 USP27X 25644381 300984 Mental retardation 105 25644381 ENSG00000107201 DDX58 25620203 616298 Singleton-Merten syndrome 2 25620203 ENSG00000181873 IBA57 25609768 616451 "Spastic paraplegia 74, autosomal recessive" 25609768 ENSG00000162129 CLPB 25597510 616271 "3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia" 25597510 ENSG00000159140 SON 25590979 617140 ZTTK syndrome 25590979 ENSG00000072163 LIMS2 25589244 616827 "Muscular dystrophy, limb-girdle, type 2W" 25589244 ENSG00000139083 ETV6 25581430 616216 Thrombocytopenia 5 25581430 ENSG00000185024 BRF1 25561519 616202 Cerebellofaciodental syndrome 25561519 ENSG00000146038 DCDC2 25557784 616217 Nephronophthisis 19 25557784 ENSG00000125124 BBS2 25541840 616562 Retinitis pigmentosa 74 25541840 ENSG00000140854 KATNB1 25521378 616212 "Lissencephaly 6, with microcephaly" 25521379 ENSG00000111877 MCM9 25480036 616185 Ovarian dysgenesis 4 25480036 ENSG00000155816 FMN2 25480035 616193 "Mental retardation, autosomal recessive 47" 25480035 ENSG00000165370 GPR101 25470569 300943 "Pituitary adenoma, growth hormone-secreting 2" 25470569 ENSG00000135317 SNX14 25439728 616354 "Spinocerebellar ataxia, autosomal recessive 20" 24501761 ENSG00000197601 FAR1 25439727 616154 Peroxisomal fatty acyl-CoA reductase 1 disorder 25439727 ENSG00000197614 MFAP5 25434006 616166 "Aortic aneurysm, familial thoracic 9" 25434006 ENSG00000130299 GTPBP3 25434004 616198 Combined oxidative phosphorylation deficiency 23 25434004 ENSG00000155380 SLC16A1 25390740 616095 Monocarboxylate transporter 1 deficiency 25390740 ENSG00000091106 NLRC4 25385754 616115 Familial cold autoinflammatory syndrome 4 25385754 ENSG00000132639 SNAP25 25381298 616330 "Myasthenic syndrome, congenital, 18" 25381298 ENSG00000127824 TUBA4A 25374358 616208 Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia 25374358 ENSG00000107815 TWNK 25355836 616138 Perrault syndrome 5 25355836 ENSG00000100412 ACO2 25351951 616289 Optic atrophy 9 25351951 ENSG00000128591 FLNC 25351925 617047 "Cardiomyopathy, familial restrictive 5" 25351925 ENSG00000142731 PLK4 25344692 616171 "Microcephaly and chorioretinopathy, autosomal recessive, 2" 25344692 ENSG00000167723 TRPV3 25285920 616400 "Palmoplantar keratoderma, nonepidermolytic, focal 2" 25285920 ENSG00000129810 SGO1 25282101 616201 Chronic atrial and intestinal dysrhythmia 25282101 ENSG00000176915 ANKLE2 25259927 616681 "Microcephaly 16, primary, autosomal recessive" 25259927 ENSG00000163380 LMOD3 25250574 616165 Nemaline myopathy 10 25250574 ENSG00000104093 DMXL2 25248098 616113 Polyendocrine-polyneuropathy syndrome 25248098 ENSG00000198003 CCDC151 25224326 616037 "Ciliary dyskinesia, primary, 30" 25224326 ENSG00000091106 NLRC4 25217960 616050 Autoinflammation with infantile enterocolitis 25217960 ENSG00000091106 NLRC4 25217959 616050 Autoinflammation with infantile enterocolitis 25217960 ENSG00000015171 ZMYND11 25217958 616083 "Mental retardation, autosomal dominant " 25217958 ENSG00000102977 ACD 25205116 616553 "Dyskeratosis congenita, autosomal dominant 6, Dyskeratosis congenita, autosomal recessive 7" 25205116 ENSG00000101695 RNF125 25196541 616260 Tenorio syndrome 25196541 ENSG00000143858 SYT2 25192047 616040 "Myasthenic syndrome, congenital, 7, presynaptic" 25192047 ENSG00000198003 CCDC151 25192045 616037 "Ciliary dyskinesia, primary, 30" 25192045 ENSG00000117528 ABCD3 25168382 616278 "Bile acid synthesis defect, congenital, 5" 25168382 ENSG00000158445 KCNB1 25164438 616056 "Epileptic encephalopathy, early infantile, 26" 25164438 ENSG00000135069 PSAT1 25152457 616038 Neu-Laxova syndrome 2 25152457 ENSG00000083307 GRHL2 25152456 616029 "Ectodermal dysplasia/short stature syndrome, " 25152456 ENSG00000145675 PIK3R1 25133428 616005 Immunodeficiency 36 25488983 ENSG00000171135 JAGN1 25129144 616022 "Neutropenia, severe congenital, 6, autosomal recessive" 25129144 ENSG00000127884 ECHS1 25125611 616277 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 25125611 ENSG00000156831 NSMCE2 25105364 617253 Seckel syndrome 10 25105364 ENSG00000101680 LAMA1 25105227 615960 Poretti-Boltshauser syndrome 25105227 ENSG00000100246 DNAL4 25098561 616059 Mirror movements 3 25098561 ENSG00000153989 NUS1 25066056 617082 "Congenital disorder of glycosylation, type 1aa" 25066056 ENSG00000012660 ELOVL5 25065913 615957 Spinocerebellar ataxia 38 25065913 ENSG00000015133 CCDC88C 25062847 616053 Spinocerebellar ataxia 40 25062847 ENSG00000171772 SYCE1 25062452 616947 Premature ovarian failure 12 25062452 ENSG00000165059 PRKACG 25061177 616176 "Bleeding disorder, platelet-type, 19" 25061177 ENSG00000137411 VARS2 25058219 615917 Combined oxidative phosphorylation deficiency 20 25058219 ENSG00000179627 ZBTB42 25055871 616248 Lethal congenital contracture syndrome 6 25055871 ENSG00000168610 STAT3 25038750 615952 "Autoimmune disease, multisystem, infantile-onset, 1" 25038750 ENSG00000184584 TMEM173 25029335 615934 "STING-associated vasculopathy, infantile-onset" 25029335 ENSG00000139323 POC1B 25018096 615973 Cone-rod dystrophy 20 25018096 ENSG00000204922 UQCC3 25008109 616111 "Mitochondrial complex III deficiency, nuclear type 9" 25008109 ENSG00000168014 C2CD3 24997988 615948 Orofaciodigital syndrome XIV 24997988 ENSG00000141485 SLC13A5 24995870 615905 "Epileptic encephalopathy, early infantile, 25" 24995870 ENSG00000120699 EXOSC8 24989451 616081 "Pontocerebellar hypoplasia, type 1C" 24989451 ENSG00000111913 RIPOR2 24958875 616515 "Deafness, autosomal recessive 104" 24958875 ENSG00000068831 RASGRP2 24958846 615888 "Bleeding disorder, platelet-type, 18" 24958846 ENSG00000156876 SASS6 24951542 616402 "Microcephaly 14, primary, autosomal recessive" 24951542 ENSG00000250479 CHCHD10 24934289 615911 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 24934289 ENSG00000185900 POMK 24925318 616094 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" 24925318 ENSG00000116783 TNNI3K 24925317 616117 Cardiac conduction disease with or without dilated cardiomyopathy 24925317 ENSG00000072042 RDH11 24916380 616108 "Retinal dystrophy, juvenile cataracts, and short stature syndrome" 24916380 ENSG00000132646 PCNA 24911150 615919 Ataxia-telangiectasia-like disorder 24911150 ENSG00000181541 MAB21L2 24906020 615877 "Microphthalmia, syndromic 14" 24906020 ENSG00000138829 FBN2 24899048 616118 "Macular degeneration, early-onset" 24899048 ENSG00000176887 SOX11 24886874 615866 "Mental retardation, autosomal dominant, 27" 24886874 ENSG00000011143 MKS1 24886560 617121 Joubert syndrome 28 24886560 ENSG00000173588 CEP83 24882706 615862 Nephronophthisis 18 24882706 ENSG00000171793 CTPS1 24870241 615897 Immunodeficiency 24 24870241 ENSG00000066629 EML1 24859200 600348 Band heterotopia 24859200 ENSG00000178522 AMBN 24858907 616270 "Amelogenesis imperfecta, type IF" 24858907 ENSG00000143337 TOR1AIP1 24856141 617072 "Muscular dystrophy, limb-girdle, type 2Y" 24856141 ENSG00000079435 LIPE 24848981 615980 "Lipodystrophy, familial partial, type 6" 24848981 ENSG00000143374 TARS2 24827421 615918 Combined oxidative phosphorylation deficiency 21 24827421 ENSG00000105204 DYRK1B 24827035 615812 Abdominal obesity-metabolic syndrome 3 24827035 ENSG00000174010 KLHL15 24817631 300982 "Mental retardation, X-linked 103" 24817631 ENSG00000213853 EMP2 24814193 615861 "Nephrotic syndrome, type 10" 24814193 ENSG00000116641 DOCK7 24814191 615859 "Epileptic encephalopathy, early infantile, 23" 24814191 ENSG00000090889 KIF4A 24812067 300923 "Mental retardation, X-linked 100" 24812067 ENSG00000124608 AARS2 24808023 615889 "Leukoencephalopathy, progressive, with ovarian failure" 24808023 ENSG00000126705 AHDC1 24791903 615829 Xia-Gibbs syndrome 24791903 ENSG00000119685 TTLL5 24791901 615860 Cone-rod dystrophy 19 24791901 ENSG00000197121 PGAP1 24784135 615802 "Mental retardation, autosomal recessive 42" 24784135 ENSG00000131504 DIAPH1 24781755 616632 "Seizures, cortical blindness, microcephaly syndrome" 24781755 ENSG00000113643 RARS 24777941 616140 "Leukodystrophy, hypomyelinating, 9" 24777941 ENSG00000132155 RAF1 24777450 615916 "Cardiomyopathy, dilated, 1NN" 24777450 ENSG00000119535 CSF3R 24753537 617014 "Neutropenia, severe congenital, 7, autosomal recessive" 24753537 ENSG00000138778 CENPE 24748105 616051 "Microcephaly 13, primary, autosomal recessive" 24748105 ENSG00000164588 HCN1 24747641 615871 "Epileptic encephalopathy, early infantile, 24" 24747641 ENSG00000152669 CCNO 24747639 615872 "Ciliary dyskinesia, primary, 29" 24747639 ENSG00000138684 IL21 24746753 615767 "Immunodeficiency, common variable, 11" 24746753 ENSG00000151491 EPS8 24741995 615974 "Deafness, autosomal recessive 102" 24741995 ENSG00000162065 TBC1D24 24729547 616044 "Deafness, autosomal dominant 65" 24729547 ENSG00000162065 TBC1D24 24729539 616044 "Deafness, autosomal dominant 65" 24729539 ENSG00000137267 TUBB2A 24702957 615763 "Cortical dysplasia, complex, with other brain malformations 5" 24702957 ENSG00000146648 EGFR 24691054 616069 "?Inflammatory skin and bowel disease, neonatal, 2" 24691054 ENSG00000088970 KIZ 24680887 615780 Retinitis pigmentosa 69 24680887 ENSG00000011426 ANLN 24676636 616032 Focal segmental glomerulosclerosis 8 24676636 ENSG00000075891 PAX2 24676634 616002 "Glomerulosclerosis, focal segmental, 7" 24676634 ENSG00000013293 SLC7A14 24670872 615725 Retinitis pigmentosa 68 24670872 ENSG00000149506 ZP1 24670168 615774 Oocyte maturation defect 1 24670168 ENSG00000111802 TDP2 24658003 616949 "Spinocerebellar ataxia, autosomal recessive 23" 24658003 ENSG00000172053 QARS 24656866 615760 "Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy" 24656866 ENSG00000022355 GABRA1 24623842 615744 "Epileptic encephalopathy, early infantile, 19" 24623842 ENSG00000103264 FBXO31 24623383 615979 "Mental retardation, autosomal recessive 45" 24623383 ENSG00000204928 GRXCR2 24619944 615837 "Deafness, autosomal recessive 101" 24619944 ENSG00000119772 DNMT3A 24614070 615879 Tatton-Brown-Rahman syndrome 24614070 ENSG00000162669 HFM1 24597873 615724 Premature ovarian failure 9 24597873 ENSG00000164116 GUCY1A3 24581742 615750 Moyamoya 6 with achalasia 24581742 ENSG00000093072 ADA2 24552284 615688 "Polyarteritis nodosa, childhood-onset" 24552284 ENSG00000169946 ZFPM2 24549039 616067 46XY sex reversal 9 24549039 ENSG00000205336 ADGRG1 24531968 615752 "Polymicrogyria, bilateral perisylvian" 24531968 ENSG00000101126 ADNP 24531329 615873 Helsmoortel-van der Aa syndrome 24531329 ENSG00000174990 CA5A 24530203 615751 Hyperammonemia due to carbonic anhydrase VA deficiency 24530203 ENSG00000182150 ERCC6L2 24507776 615715 Bone marrow failure syndrome 2 24507776 ENSG00000181038 METTL23 24501276 615942 "Mental retardation, autosomal recessive 44" 24501276 ENSG00000105695 MAG 24482476 616680 "Spastic paraplegia 75, autosomal recessive" 24482476 ENSG00000107566 ERLIN1 24482476 615681 Spastic paraplegia 62 24482476 ENSG00000116337 AMPD2 24482476 615686 Spastic paraplegia 63 24482476 ENSG00000138185 ENTPD1 24482476 615683 "Spastic paraplegia 64, autosomal recessive" 24482476 ENSG00000170540 ARL6IP1 24482476 615685 Spastic paraplegia 61 24482476 ENSG00000175745 NR2F1 24462372 615722 Bosch-Boonstra-Schaaf optic atrophy syndrome 24462372 ENSG00000184743 ATL3 24459106 615632 "Neuropathy, hereditary sensory, type IF" 24459106 ENSG00000141384 TAF4B 24431330 615841 Spermatogenic failure 13 24431330 ENSG00000141497 ZMYND15 24431330 615842 Spermatogenic failure 14 24431330 ENSG00000136875 PRPF4 24419317 615922 Retinitis pigmentosa 70 24419317 ENSG00000089818 NECAP1 24399846 615833 "Epileptic encephalopathy, early infantile" 24399846 ENSG00000119878 CRIPT 24389050 615789 Short stature with microcephaly and distinctive facies 24389050 ENSG00000132563 REEP2 24388663 615625 "Spastic paraplegia 72, autosomal dominant" 24388663 ENSG00000132563 REEP2 24388663 615625 "Spastic paraplegia 72, autosomal recessive" 24388663 ENSG00000137288 UQCC2 24385928 615824 "Mitochondrial complex III deficiency, nuclear type 7" 24385928 ENSG00000277161 PIGW 24367057 616025 Hyperphosphatasia with mental retardation syndrome 5 24367057 ENSG00000068120 COASY 24360804 615643 Neurodegeneration with brain iron accumulation 6 24360804 ENSG00000144182 LIPT1 24341803 616299 Lipoyltransferase 1 deficiency 24341803 ENSG00000103266 STUB1 24312598 615768 "Spinocerebellar ataxia, autosomal recessive " 24312598 ENSG00000115221 ITGB6 24305999 616221 "Amelogenesis imperfecta, type IH" 24305999 ENSG00000273079 GRIN2B 24272827 616139 "Epileptic encephalopathy, early infantile" 24272827 ENSG00000123815 COQ8B 24270420 615573 "Nephrotic syndrome, type 9" 24270420 ENSG00000239474 KLHL41 24268659 615731 Nemaline myopathy 9 24268659 ENSG00000174007 CEP19 24268657 615703 Morbid obesity and spermatogenic failure 24268657 ENSG00000164458 TBXT 24253444 615709 Sacral agenesis with vertebral anomalies 24253444 ENSG00000118162 KPTN 24239382 615637 "Mental retardation, autosomal recessive 41" 24239382 ENSG00000145331 TRMT10A 24204302 616033 "Microcephaly, short stature, and impaired glucose metabolism 1" 24204302 ENSG00000156973 PDE6D 24166846 615665 Joubert syndrome 22 24166846 ENSG00000070669 ASNS 24139043 615574 Asparagine synthetase deficiency 24139043 ENSG00000056972 TRAF3IP2 24120361 615527 "Candidiasis, familial, 8" 24120361 ENSG00000178568 ERBB4 24119685 615515 Amyotrophic lateral sclerosis 19 24119685 ENSG00000183605 SFXN4 24119684 615578 Combined oxidative phosphorylation deficiency 18 24119684 ENSG00000166986 MARS 24103465 615486 Interstitial lung and liver disease 24103465 ENSG00000139537 CCDC65 24094744 615504 "Ciliary dyskinesia, primary" 24094744 ENSG00000159079 C21orf59 24094744 615500 "Ciliary dyskinesia, primary, 26" 24094744 ENSG00000102024 PLS3 24088043 300910 "Bone mineral density QTL18, osteoporosis" 24088043 ENSG00000130023 ERMARD 24056535 615544 Periventricular nodular heterotopia 6 24056535 ENSG00000104450 SPAG1 24055112 615505 "Ciliary dyskinesia, primary, 28" 24055112 ENSG00000115459 ELMOD3 24039609 615429 "Deafness, autosomal recessive 88" 24039609 ENSG00000168356 SCN11A 24036948 615548 "Neuropathy, hereditary sensory and autonomic, type VII" 24036948 ENSG00000144591 GMPPA 24035193 615510 "Alacrima, achalasia, and mental retardation syndrome" 24035193 ENSG00000117620 SLC35A3 24031089 615553 "Arthrogryposis, mental retardation, and seizures" 24031089 ENSG00000172379 ARNT2 24022475 615926 Webb-Dattani syndrome 24022475 ENSG00000186687 LYRM7 24014394 615838 "Mitochondrial complex III deficiency, nuclear type 8" 24014394 ENSG00000112706 IMPG1 23993198 616151 "Macular dystrophy, vitelliform, 4" 23993198 ENSG00000160188 RSPH1 23993197 615481 "Ciliary dyskinesia, primary, 24" 23993197 ENSG00000087258 GNAO1 23993195 615473 "Epileptic encephalopathy, early infantile, 17" 23993195 ENSG00000112234 FBXL4 23993193 615471 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) 23993193 ENSG00000139537 CCDC65 23991085 615504 "Ciliary dyskinesia, primary" 23991085 ENSG00000134760 DSG1 23974871 615508 "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE" 23974871 ENSG00000263761 GDF2 23972370 615506 "Telangiectasia, hereditary hemorrhagic, type 5" 23972370 ENSG00000041982 TNC 23936043 615629 "Deafness, autosomal dominant 56" 23936043 ENSG00000163288 GABRB1 23934111 617153 "Epileptic encephalopathy, early infantile, 45" 23934111 ENSG00000105810 CDK6 23918663 616080 "Microcephaly 12, primary, autosomal recessive" 23918663 ENSG00000157388 CACNA1D 23913001 615474 "Primary aldosteronism, seizures, and neurologic abnormalities" 23913001 ENSG00000116337 AMPD2 23911318 615809 "Pontocerebellar hypoplasia, type 9" 23911318 ENSG00000179091 CYC1 23910460 615453 "Mitochondrial complex III deficiency, nuclear type 6" 23910460 ENSG00000004838 ZMYND10 23891469 615444 "Ciliary dyskinesia, primary, 22" 23891469 ENSG00000171303 KCNK3 23883380 615344 "Pulmonary hypertension, primary, 4" 23883380 ENSG00000256061 DNAAF4 23872636 615482 "Ciliary dyskinesia, primary, 25" 23872636 ENSG00000125813 PAX1 23851939 615560 Otofaciocervical syndrome 2 23851939 ENSG00000169126 ARMC4 23849778 615451 "Ciliary dyskinesia, primary, 23" 23849778 ENSG00000102931 ARL2BP 23849777 615434 Retinitis pigmentosa with or without situs inversus 23849777 ENSG00000006744 ELAC2 23849775 615440 Combined oxidative phosphorylation deficiency 17 23849775 ENSG00000134910 STT3A 23842455 615596 "Congenital disorder of glycosylation, type Iw" 23842455 ENSG00000163527 STT3B 23842455 615597 "Congenital disorder of glycosylation, type Ix" 23842455 ENSG00000148700 ADD3 23836506 617008 "Cerebral palsy, spastic quadriplegic, 3" 23836506 ENSG00000130226 DPP6 23832105 616311 "Mental retardation, autosomal dominant 33" 23832105 ENSG00000168538 TRAPPC11 23830518 615356 "Muscular dystrophy, limb-girdle, type 2S" 23830518 ENSG00000214113 LYRM4 23814038 615595 Combined oxidative phosphorylation deficiency 19 23814038 ENSG00000168955 TM4SF20 23810381 615432 Specific language impairment 5 23810381 ENSG00000165138 ANKS6 23793029 615382 Nephronophthisis 16 23793029 ENSG00000173540 GMPPB 23768512 615350 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14" 23768512 ENSG00000173540 GMPPB 23768512 615352 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14" 23768512 ENSG00000102974 CTCF 23746550 615502 "Mental retardation, autosomal dominant " 23746550 ENSG00000157119 KLHL40 23746549 615348 "Nemaline myopathy 8, autosomal recessive" 23746549 ENSG00000157869 RAB28 23746546 615374 Cone-rod dystrophy 18 23746546 ENSG00000136631 VPS45 23738510 615285 "Neutropenia, severe congenital, 5, autosomal recessive" 23738510 ENSG00000179455 MKRN3 23738509 615346 "Precocious puberty, central, 2" 23738509 ENSG00000124155 PIGT 23733340 615399 Paroxysmal nocturnal hemoglobinuria 2 23733340 ENSG00000074181 NOTCH3 23731542 615293 "Myofibromatosis, infantile 2" 23731542 ENSG00000172175 MALT1 23727036 615468 Immunodeficiency 12 23727036 ENSG00000111817 DSE 23704329 615539 "Ehlers-Danlos syndrome, musculocontractural type 2" 23704329 ENSG00000175084 DES 23687351 615325 "Muscular dystrophy, limb-girdle, type 2R" 23687351 ENSG00000115866 DARS 23643384 615281 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 23643384 ENSG00000168477 TNXB 23620400 615963 Vesicoureteral reflux 8 23620400 ENSG00000213638 ADAT3 23620220 615286 "Mental retardation, autosomal recessive 36" 23620220 ENSG00000133103 COG6 23606727 615328 Shaheen syndrome 23606727 ENSG00000068796 KIF2A 23603762 615411 "Cortical dysplasia, complex, with other brain malformations 3" 23603762 ENSG00000131462 TUBG1 23603762 615412 "Cortical dysplasia, complex, with other brain malformations 4" 23603762 ENSG00000152234 ATP5A1 23599390 615228 "Mitochondrial complex (ATP synthase) deficiency, nuclear type 4" 23599390 ENSG00000152234 ATP5A1 23596069 616045 Combined oxidative phosphorylation deficiency 22 23596069 ENSG00000168000 BSCL2 23564749 615924 "Encephalopathy, progressive, with or without lipodystrophy" 23564749 ENSG00000102100 SLC35A2 23561849 300896 "Congenital disorder of glycosylation, type Iim" 23561849 ENSG00000011376 LARS2 23541342 615300 Perrault syndrome 4 23541342 ENSG00000163378 EOGT 23522784 615297 Adams-Oliver syndrome 4 23522784 ENSG00000115657 ABCB6 23519333 615402 Dyschromatosis universalis hereditaria 3 23519333 ENSG00000185900 POMK 23519211 615249 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" 23519211 ENSG00000184144 CNTN2 23518707 615400 "Epilepsy, myoclonic, familial adult, 5" 23518707 ENSG00000163499 CRYBA2 23508780 115900 Cataract 42 23508780 ENSG00000114354 TFG 23479643 615658 "Spastic paraplegia 57, autosomal recessive" 23479643 ENSG00000091136 LAMB1 23472759 615191 Lissencephaly 5 23472759 ENSG00000181873 IBA57 23462291 615330 Multiple mitochondrial dysfunctions syndrome 3 23462291 ENSG00000135486 HNRNPA1 23455423 615426 Amyotrophic lateral sclerosis 20 23455423 ENSG00000162885 B3GALNT2 23453667 615181 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A" 23453667 ENSG00000103522 IL21R 23440042 615207 "Immunodeficiency, primary, autosomal recessive, IL21R-related" 23440042 ENSG00000072110 ACTN1 23434115 615193 "Bleeding disorder, platelet-type, 15" 23434115 ENSG00000111752 PHC1 23418308 615414 "Microcephaly 11, primary, autosomal recessive" 23418308 ENSG00000150630 VEGFC 23410910 615907 "Lymphedema, hereditary, ID" 23410910 ENSG00000119523 ALG2 23404334 616228 "Myasthenic syndrome, congenital, 14, with tubular aggregates" 23404334 ENSG00000172339 ALG14 23404334 616227 "Myasthenic syndrome, congenital, 15, without tubular aggregates" 23404334 ENSG00000148655 LRMDA 23395477 615179 "Albinism, oculocutaneous, type VII" 23395477 ENSG00000170581 STAT2 23391734 616636 Immunodeficiency 44 23391734 ENSG00000214960 ISPD 23390185 616052 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" 23390185 ENSG00000151150 ANK3 23390136 615493 "Mental retardation, autosomal recessive, 37" 23390136 ENSG00000143933 CALM2 23388215 616249 Long QT syndrome 15 23388215 ENSG00000198668 CALM1 23388215 616247 Long QT syndrome 14 23388215 ENSG00000141431 ASXL3 23383720 615485 Bainbridge-Ropers syndrome 23383720 ENSG00000174684 B4GAT1 23359570 615287 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13" 23359570 ENSG00000140262 TCF12 23354436 615314 Craniosynostosis 3 23354436 ENSG00000138346 DNA2 23352259 615156 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" 23352259 ENSG00000091592 NLRP1 23349227 615225 "Palmoplantar carcinoma, multiple self-healing" 23349227 ENSG00000181392 SYNE4 23348741 615540 "Deafness, autosomal recessive 76" 23348741 ENSG00000158321 AUTS2 23332918 615834 "Mental retardation, autosomal dominant 26" 23332918 ENSG00000188613 NANOS1 23315541 615413 Spermatogenic failure 12 23315541 ENSG00000135900 MRPL44 23315540 615395 Combined oxidative phosphorylation deficiency 16 23315540 ENSG00000101752 MIB1 23314057 615092 Left ventricular noncompaction 7 23314057 ENSG00000125871 MGME1 23313956 615084 Mitochondrial DNA depletion syndrome 11 23313956 ENSG00000198799 LRIG2 23313374 615112 Urofacial syndrome 2 23313374 ENSG00000184254 ALDH1A3 23312594 615113 "Microphthalmia, isolated 8" 23312594 ENSG00000182187 CRYGB 23288985 615188 "Cataract 39, multiple types, autosomal dominant" 23288985 ENSG00000140740 UQCRC2 23281071 615160 "Mitochondrial complex III deficiency, nuclear type 5" 23281071 ENSG00000105479 CCDC114 23261303 615067 "Ciliary dyskinesia, primary" 23261303 ENSG00000105479 CCDC114 23261302 615067 "Ciliary dyskinesia, primary" 23261302 ENSG00000196230 TUBB 23246003 615771 "Cortical dysplasia, complex, with other brain malformations 6" 23246003 ENSG00000107186 MPDZ 23240096 615219 "Hydrocephalus, nonsyndromic, autosomal recessive 2" 23240096 ENSG00000173898 SPTBN2 23236289 615386 "Spinocerebellar ataxia, autosomal recessive 14" 23236289 ENSG00000177084 POLE 23230001 615139 FILS syndrome 23230001 ENSG00000118600 TMEM5 23217329 615041 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10" 23217329 ENSG00000198026 ZNF335 23178126 615095 "Microcephaly 10, primary, autosomal recessive" 23178126 ENSG00000196663 TECPR2 23176824 615031 "Spastic paraplegia 49, autosomal recessive" 23176824 ENSG00000155016 CYP2U1 23176821 615030 "Spastic paraplegia 56, autosomal recessive" 23176821 ENSG00000110723 EXPH5 23176819 615028 "Epidermolysis bullosa, nonspecific, autosomal recessive" 23176819 ENSG00000181555 SETD2 23160955 616831 Luscan-Lumish syndrome 22495309 ENSG00000131127 ZNF141 23160277 615226 "?Polydactyly, postaxial, type A6" 23160277 ENSG00000175115 PACS1 23159249 615009 Schuurs-Hoeijmakers syndrome 23159249 ENSG00000183230 CTNNA3 23136403 615616 "Arrhythmogenic right ventricular dysplasia, familial, 13" 23136403 ENSG00000129295 LRRC6 23122589 614935 "Ciliary dyskinesia, primary, 19" 23122589 ENSG00000188162 OTOG 23122587 614945 "Deafness, autosomal recessive 18B" 23122587 ENSG00000165899 OTOGL 23122586 614944 Deafness autosomal recessive 84B 23122586 ENSG00000185313 SCN10A 23115331 615551 "Episodic pain syndrome, familial, 2" 23115331 ENSG00000185000 DGAT1 23114594 615863 Diarrhea 7 23114594 ENSG00000138035 PNPT1 23084291 614932 Combined oxidative phosphorylation deficiency 13 23084291 ENSG00000138035 PNPT1 23084290 614934 "Deafness, autosomal recessive 70" 23084290 ENSG00000128731 HERC2 23065719 615516 "Mental retardation, autosomal recessive 38" 23065719 ENSG00000123364 HOXC13 23063621 614931 "Ectodermal dysplasia 9, hair/nail type" 23063621 ENSG00000114956 DGUOK 23043144 617070 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" 23043144 ENSG00000198668 CALM1 23040497 614916 "Ventricular tachycardia, catecholaminergic polymorphic, 4" 23040497 ENSG00000101210 EEF1A2 23033978 616409 "Epileptic encephalopathy, early infantile, 33" 23033978 ENSG00000101901 ALG13 23033978 300884 "Congenital disorder of glycosylation, type Is" 23033978 ENSG00000143614 GATAD2B 23033978 615074 "Mental retardation, autosomal dominant 18" 23033978 ENSG00000168036 CTNNB1 23033978 615075 "Mental retardation, autosomal dominant 19" 23033978 ENSG00000131165 CHMP1A 23023333 614961 "Pontocerebellar hypoplasia, type 8" 23023333 ENSG00000173575 CHD2 23020937 615369 "Epileptic encephalopathy, childhood-onset" 23020937 ENSG00000205084 TMEM231 23012439 614970 Joubert syndrome 20 23012439 ENSG00000144647 POMGNT2 22958903 614830 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8" 22958903 ENSG00000176225 RTTN 22939636 614833 "Microcephaly, short stature, and polymicrogyria with seizures" 22939636 ENSG00000100503 NIN 22933543 614851 Seckel syndrome 7 22933543 ENSG00000140939 NOL3 22926851 614937 "Myoclonus, familial cortical" 22926851 ENSG00000119688 ABCD4 22922874 614857 "Methylmalonic aciduria and homocystinuria, cblJ type" 22922874 ENSG00000174792 ODAPH 22901946 614832 "Amelogenesis imperfecta, type IIA4" 22901946 ENSG00000168214 RBPJ 22883147 614814 Adams-Oliver syndrome 3 22883147 ENSG00000119977 TCTN3 22883145 614815 Joubert syndrome 18 22883145 ENSG00000159899 NPR2 22870295 615923 "Epiphyseal chondrodysplasia, Miura type" 22870295 ENSG00000089280 FUS 22863194 614782 "Tremor, hereditary essential, 4" 22863194 ENSG00000102935 ZNF423 22863007 614844 Joubert syndrome 19 22863007 ENSG00000102935 ZNF423 22863007 614844 Nephronophthisis 14 22863007 ENSG00000110274 CEP164 22863007 614845 Nephronophthisis 15 22863007 ENSG00000187608 ISG15 22859821 616126 Immunodeficiency 38 22859821 ENSG00000162004 CCDC78 22818856 614807 "Myopathy, centronuclear, 4" 22818856 ENSG00000155962 CLIC2 22814392 300886 "Mental retardation, X-linked, syndromic 32" 22814392 ENSG00000108518 PFN1 22801503 614808 Amyotrophic lateral sclerosis 18 22801503 ENSG00000092969 TGFB2 22772368 614816 Loeys-Dietz syndrome 4 22772368 ENSG00000218336 TENM3 22766609 615145 "Microphthalmia, isolated, with coloboma 9" 22766609 ENSG00000155975 VPS37A 22717650 614898 "Spastic paraplegia 53, autosomal recessive" 22717650 ENSG00000068615 REEP1 22703882 614751 "Neuronopathy, distal hereditary motor, type VB" 22703882 ENSG00000171735 CAMTA1 22693284 614756 "Cerebellar ataxia, nonprogressive, with mental retardation" 22693284 ENSG00000134851 TMEM165 22683087 614727 "Congenital disorder of glycosylation, type Iik" 22683087 ENSG00000165282 PIGO 22683086 614749 Hyperphosphatasia with mental retardation syndrome 2 22683086 ENSG00000175894 TSPEAR 22678063 614861 "Deafness, autosomal recessive 98" 22678063 ENSG00000112992 NNT 22634753 614736 "Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency" 22634753 ENSG00000196091 MYBPC1 22610851 614915 Lethal congenital contracture syndrome 4 22610851 ENSG00000198589 LRBA 22608502 614700 "Immunodeficiency, common variable, 8, with autoimmunity" 22608502 ENSG00000135297 MTO1 22608499 614702 Combined oxidative phosphorylation deficiency 10 22608499 ENSG00000133706 LARS 22607940 615438 Infantile liver failure syndrome 1 22607940 ENSG00000139648 KRT71 22592156 615896 Hypotrichosis 13 22592156 ENSG00000151092 NGLY1 22581936 615273 Congenital disorder of deglycosylation 22581936 ENSG00000172361 CFAP53 22577226 614779 "Heterotaxy, visceral, 6, autosomal recessive" 22577226 ENSG00000174780 SRP72 22541560 614675 Bone marrow failure syndrome 1 22541560 ENSG00000151914 DST 22522446 614653 "Neuropathy, hereditary sensory and autonomic, type VI" 22522446 ENSG00000135924 DNAJB2 22522442 614881 "Spinal muscular atrophy, distal, autosomal recessive, 5" 22522442 ENSG00000174799 CEP135 22521416 614673 "Microcephaly 8, primary, autosomal recessive" 22521416 ENSG00000005884 ITGA3 22512483 614748 "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" 22512483 ENSG00000145982 FARS2 22499341 614946 Combined oxidative phosphorylation deficiency 14 22499341 ENSG00000168958 MFF 22499341 617086 Encephalopathy due to defective mitochondrial and peroxisomal fission 2 22499341 ENSG00000086300 SNX10 22499339 615085 "Osteopetrosis, autosomal recessive 8" 22499339 ENSG00000181555 SETD2 22495309 616831 Luscan-Lumish syndrome 23160955 ENSG00000103356 EARS2 22492562 614924 Combined oxidative phosphorylation deficiency 12 22492562 ENSG00000140623 SEPT12 22479503 614822 Spermatogenic failure 10 22479503 ENSG00000145244 CORIN 22437503 614595 Preeclampsia/eclampsia 5 22437503 ENSG00000070019 GUCY2C 22436048 614616 Diarrhea 6 22436048 ENSG00000073584 SMARCE1 22426308 616938 Coffin-Siris syndrome 5 22426308 ENSG00000099956 SMARCB1 22426308 614608 Coffin-Siris syndrome 3 22426308 ENSG00000117713 ARID1A 22426308 614607 Coffin-Siris syndrome 2 22426308 ENSG00000127616 SMARCA4 22426308 614609 Coffin-Siris syndrome 4 22426308 ENSG00000186439 TRDN 22422768 615441 "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" 22422768 ENSG00000006530 AGK 22415731 614691 "Cataract 38, autosomal recessive" 22415731 ENSG00000100412 ACO2 22405087 614559 Infantile cerebellar-retinal degeneration 22405087 ENSG00000066468 FGFR2 22387015 614592 Bent bone dysplasia syndrome 22387015 ENSG00000196876 SCN8A 22365152 614558 "Epileptic encephalopathy, early infantile, 13" 22365152 ENSG00000175054 ATR 22341969 614564 "Cutaneous telangiectasia and cancer syndrome, familial" 22341969 ENSG00000244038 DDOST 22305527 614507 "Congenital disorder of glycosylation, type Ir" 22305527 ENSG00000101109 STK4 22294732 614868 "T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations" 22294732 ENSG00000134532 SOX5 22290657 616803 Lamb-Shaffer syndrome 22290657 ENSG00000124302 CHST8 22289416 616265 Peeling skin syndrome 3 22289416 ENSG00000149483 TMEM138 22282472 614465 Joubert syndrome 16 22282472 ENSG00000106009 BRAT1 22279524 614498 "Rigidity and multifocal seizure syndrome, lethal neonatal" 22279524 ENSG00000163877 SNIP1 22279524 614501 "Psychomotor retardation, epilepsy, and craniofacial dysmorphism" 22279524 ENSG00000169372 CRADD 22279524 614499 "Mental retardation, autosomal recessive 34, with variant lissencephaly" 22279524 ENSG00000137834 SMAD6 22275001 614823 Aortic valve disease 2 22275001 ENSG00000036257 CUL3 22266938 614496 "Pseudohypoaldosteronism, type IIE" 22266938 ENSG00000146021 KLHL3 22266938 614495 "Pseudohypoaldosteronism, type IID" 22266938 ENSG00000106080 FKBP14 22265013 614557 "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" 22265013 ENSG00000204248 COL11A2 22246659 614524 Fibrochondrogenesis 2 22246659 ENSG00000106477 CEP41 22246503 614464 Joubert syndrome 15 22246503 ENSG00000167588 GPD1 22226083 614480 "Hypertriglyceridemia, transient infantile" 22226083 ENSG00000114349 GNAT1 22190596 616389 "Night blindness, congenital stationary, type 1G" 22190596 ENSG00000156172 C8orf37 22177090 614500 Cone-rod dystrophy 16 22177090 ENSG00000156172 C8orf37 22177090 614500 Retinitis pigmentosa 64 22177090 ENSG00000196511 TPK1 22152682 614458 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) 22152682 ENSG00000121897 LIAS 22152680 614462 "Hyperglycinemia, lactic acidosis, and seizures" 22152680 ENSG00000105880 DLX5 22121204 220600 Split-hand/foot malformation 1 with sensorineural hearing loss 22121204 ENSG00000115107 STEAP3 22031863 615234 "Anemia, hypochromic microcytic, with iron overload 2" 22031863 ENSG00000141385 AFG3L2 22022284 614487 "Spastic ataxia 5, autosomal recessive" 22022284 ENSG00000157796 WDR19 22019273 614378 Cranioectodermal dysplasia 4 22019273 ENSG00000157796 WDR19 22019273 614377 Nephronophthisis 13 22019273 ENSG00000003137 CYP26B1 22019272 614416 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies 22019272 ENSG00000151694 ADAM17 22010916 614328 "Inflammatory skin and bowel disease, neonatal, 1" 22010916 ENSG00000182923 CEP63 21983783 614728 Seckel syndrome 6 21983783 ENSG00000131943 C19orf12 21981780 614298 Neurodegeneration with brain iron accumulation 4 21981780 ENSG00000157259 GATAD1 21965549 614672 "Cardiomyopathy, dilated, 2B" 21965549 ENSG00000131470 PSMC3IP 21963259 614324 Ovarian dysgenesis 3 21963259 ENSG00000064313 TAF2 21937992 615599 "Mental retardation, autosomal recessive 40" 21937992 ENSG00000129696 TTI2 21937992 615541 "Mental retardation, autosomal recessive 39" 21937992 ENSG00000134759 ELP2 21937992 617270 Mental retardation autosomal recessive 58 21937992 ENSG00000140471 LINS1 21937992 614340 "Mental retardation, autosomal recessive 27" 21937992 ENSG00000165078 CPA6 21922598 614417 "Epilepsy, familial temporal lobe, 5" 21922598 ENSG00000167207 NOD2 21914217 617321 Yao syndrome 21914217 ENSG00000103707 MTFMT 21907147 614947 Combined oxidative phosphorylation deficiency 15 21907147 ENSG00000120053 GOT1 21900944 614419 "Aspartate aminotransferase, serum level of, QTL1" 21900944 ENSG00000151929 BAG3 21898660 613881 "Cardiomyopathy, dilated, 1HH" 21898660 ENSG00000090530 P3H2 21885030 614292 "Myopia, high, with cataract and vitreoretinal degeneration" 21885030 ENSG00000100697 DICER1 21882293 180295 "Rhabdomyosarcoma, embryonal, 2" 21882293 ENSG00000163930 BAP1 21874003 614327 Tumor predisposition syndrome 21874003 ENSG00000112282 MED23 21868677 614249 "Mental retardation, autosomal recessive 18" 21868677 ENSG00000136695 IL36RN 21848462 614204 "Psoriasis 14, pustular" 21839423 ENSG00000143469 SYT14 21835308 614229 "Spinocerebellar ataxia, autosomal recessive 11" 21835308 ENSG00000111837 MAK 21825139 614181 Retinitis pigmentosa 62 21825139 ENSG00000130294 KIF1A 21820098 614213 "Neuropathy, hereditary sensory, type IIC" 21820098 ENSG00000163104 SMARCAD1 21820097 136000 Adermatoglyphia 21820097 ENSG00000064309 CDON 21802063 614226 Holoprosencephaly 11 21802063 ENSG00000114686 MRPL3 21786366 614582 Combined oxidative phosphorylation deficiency 9 21786366 ENSG00000169515 CCDC8 21737058 614205 3-M syndrome 3 21737058 ENSG00000100722 ZC3H14 21734151 617125 "Mental retardation, autosomal recessive 56" 21734151 ENSG00000204852 TCTN1 21725307 614173 Joubert syndrome 13 21725307 ENSG00000184047 DIABLO 21722859 614152 "Deafness, autosomal dominant 64" 21722859 ENSG00000151490 PTPRO 21722858 614196 "Nephrotic syndrome, type 6" 21722858 ENSG00000115415 STAT1 21714643 614162 "Immunodeficiency 31C, autosomal dominant" 21714643 ENSG00000102030 NAA10 21700266 300855 Ogden syndrome 21700266 ENSG00000101361 NOP56 21683323 614153 Spinocerebellar ataxia 36 21683323 ENSG00000166147 FBN1 21683322 614185 Geleophysic dysplasia 2 21683322 ENSG00000164930 FZD6 21665003 614157 "Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails)" 21665003 ENSG00000100478 AP4S1 21620353 614067 "Spastic paraplegia 52, autosomal recessive" 21620353 ENSG00000134262 AP4B1 21620353 614066 "Spastic paraplegia 47, autosomal recessive" 21620353 ENSG00000050555 LAMC3 21572413 614115 "Cortical malformations, occipital" 21572413 ENSG00000168778 TCTN2 21565611 616654 Joubert syndrome 24 21565611 ENSG00000166813 KIF7 21552264 614120 Hydrolethalus syndrome 2 21552264 ENSG00000124608 AARS2 21549344 614096 Combined oxidative phosphorylation deficiency 8 21549344 ENSG00000104331 IMPAD1 21549340 614078 "Chondrodysplasia with joint dislocations, GPAPP type" 21549340 ENSG00000108433 GOSR2 21549339 614018 "Epilepsy, progressive myoclonic 6" 21549339 ENSG00000101161 PRPF6 21549338 613983 Retinitis pigmentosa 21549338 ENSG00000175334 BANF1 21549337 614008 Nestor-Guillermo progeria syndrome 21549337 ENSG00000119723 COQ6 21540551 614650 "Coenzyme Q10 deficiency, primary, 6" 21540551 ENSG00000136051 WASHC4 21498477 615817 "Mental retardation, autosomal recessive 43" 21498477 ENSG00000119661 DNAL1 21496787 614017 "Ciliary dyskinesia, primary" 21496787 ENSG00000197563 PIGN 21493957 614080 Multiple congenital anomalies-hypotonia-seizures syndrome 1 21493957 ENSG00000105357 MYH14 21480433 614369 "Peripheral neuropathy, myopathy, hoarseness, and hearing loss" 21480433 ENSG00000183513 COA5 21457908 616500 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" 21457908 ENSG00000104356 POP1 21455487 617396 Anauxetic dysplasia 2 21455487 ENSG00000196116 TDRD7 21436445 613887 Cataract 36 21436445 ENSG00000148842 CNNM2 21397062 613882 "Hypomagnesemia 6, renal" 21397062 ENSG00000197616 MYH6 21378987 614090 Sick sinus syndrome 3 21378987 ENSG00000088367 EPB41L1 21376300 614257 "Mental retardation, autosomal dominant 11" 21376300 ENSG00000130294 KIF1A 21376300 614255 "Mental retardation, autosomal dominant 9" 21376300 ENSG00000166862 CACNG2 21376300 614256 "Mental retardation, autosomal dominant 10" 21376300 ENSG00000176884 GRIN1 21376300 614254 "Mental retardation, autosomal dominant 8" 21376300 ENSG00000151929 BAG3 21353195 613881 "Cardiomyopathy, dilated, 1HH" 21353195 ENSG00000112116 IL17F 21350122 613956 "Candidiasis, familial, 6, autosomal dominant" 21350122 ENSG00000166819 PLIN1 21345103 613877 "Lipodystrophy, familial partial, type 4" 21345103 ENSG00000117594 HSD11B1 21325058 614662 Cortisone reductase deficiency 2 21325058 ENSG00000163646 CLRN1 21310491 614180 Retinitis pigmentosa 61 21310491 ENSG00000117682 DHDDS 21295283 613861 Retinitis pigmentosa 59 21295282 ENSG00000052802 MSMO1 21285510 616834 "Microcephaly, congenital cataract, and psoriasiform dermatitis" 21285510 ENSG00000011295 TTC19 21278747 615157 "Mitochondrial complex III deficiency, nuclear type 2" 21278747 ENSG00000123607 TTC21B 21258341 613820 Nephronophthisis 12 21258341 ENSG00000123607 TTC21B 21258341 613819 Short-rib thoracic dysplasia 4 with or without polydactyly 21258341 ENSG00000104835 SARS2 21255763 613845 "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" 21255763 ENSG00000136574 GATA4 21220346 615542 Testicular anomalies with or without congenital heart disease 21220346 ENSG00000166949 SMAD3 21217753 613795 Loeys-Dietz syndrome 3 21217753 ENSG00000277734 TRAC 21206088 615387 "Immunodeficiency 7, TCR-alpha/beta deficient" 21206088 ENSG00000141499 WRAP53 21205863 613988 "Dyskeratosis congenita, autosomal recessive 3" 21205863 ENSG00000101347 SAMHD1 21204240 614415 Chilblain lupus 2 21204240 ENSG00000227268 KLLN 21177507 615107 Cowden syndrome 4 21177507 ENSG00000103995 CEP152 21131973 613823 Seckel syndrome 5 21131973 ENSG00000145075 CCDC39 21131972 613807 "Ciliary dyskinesia, primary, 14" 21131972 ENSG00000157388 CACNA1D 21131953 614896 Sinoatrial node dysfunction and deafness 21131953 ENSG00000183072 NKX2-5 21110066 614432 Ventricular septal defect 3 21110066 ENSG00000178209 PLEC 21109228 613723 "Muscular dystrophy, limb-girdle, type 2Q" 21109228 ENSG00000168040 FADD 21109225 613759 "Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations" 21109225 ENSG00000166086 JAM3 21109224 613730 "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts" 21109224 ENSG00000166948 TGM6 21106500 613908 Spinocerebellar ataxia 35 21106500 ENSG00000160746 ANO10 21092923 613728 "Spinocerebellar ataxia, autosomal recessive 10" 21092923 ENSG00000177030 DEAF1 21076407 615828 "Mental retardation, autosomal dominant 24" 21076407 ENSG00000197102 DYNC1H1 21076407 614563 "Mental retardation, autosomal dominant 13" 21076407 ENSG00000107951 MTPAP 20970105 613672 "Spastic ataxia 4, autosomal recessive" 20970105 ENSG00000164736 SOX17 20960469 613674 Vesicoureteral reflux 3 20960469 ENSG00000114861 FOXP1 20950788 613670 Mental retardation with language impairment and with or without autistic features 20571508 ENSG00000042429 MED17 20950787 613668 "Microcephaly, postnatal progressive, with seizures and brain atrophy" 20950787 ENSG00000080815 PSEN1 20929727 613737 "Acne inversa, familial, 3" 20929727 ENSG00000205155 PSENEN 20929727 613736 "Acne inversa, familial, 2" 20929727 ENSG00000100596 SPTLC2 20920666 613640 "Neuropathy, hereditary sensory and autonomic, type IC" 20920666 ENSG00000273079 GRIN2B 20890276 613970 "Mental retardation, autosomal dominant 6" 20890276 ENSG00000136931 NR5A1 20887963 613957 Spermatogenic failure 8 20887963 ENSG00000074621 SLC24A1 20850105 613830 "Night blindness, congenital stationary (complete), 1D, autosomal recessive" 20850105 ENSG00000182621 PLCB1 20833646 613722 "Epileptic encephalopathy, early infantile, 12" 20833646 ENSG00000258947 TUBB3 20829227 614039 "Cortical dysplasia, complex, with other brain malformations 1" 20829227 ENSG00000145016 RUBCN 20826435 615705 "Spinocerebellar ataxia, autosomal recessive 15" 20826435 ENSG00000118965 WDR35 20817137 613610 Cranioectodermal dysplasia 2 20817137 ENSG00000148600 CDHR1 20805371 613660 Cone-rod dystrophy 15 20805371 ENSG00000148600 CDHR1 20805371 613660 Retinitis pigmentosa 65 20805371 ENSG00000134389 CFHR5 20800271 614809 Nephropathy due to CFHR5 deficiency 20800271 ENSG00000241935 HOGA1 20797690 613616 "Hyperoxaluria, primary, type III" 20797690 ENSG00000163795 ZNF513 20797688 613617 Retinitis pigmentosa 58 20797688 ENSG00000125965 GDF5 20683927 615072 "Brachydactyly, type A1, C" 20683927 ENSG00000105610 KLF1 20676099 613566 Hereditary persistence of fetal hemoglobin 20676099 ENSG00000008441 NFIX 20673863 614753 Sotos syndrome 2 20673863 ENSG00000081148 IMPG2 20673862 613581 Retinitis pigmentosa 56 20673862 ENSG00000185527 PDE6G 20655036 613582 Retinitis pigmentosa 57 20655036 ENSG00000141448 GATA6 20631719 614475 Atrial septal defect 9 20631719 ENSG00000242802 AP5Z1 20613862 613647 "Spastic paraplegia 48, autosomal recessive" 20613862 ENSG00000133103 COG6 20605848 614576 "Congenital disorder of glycosylation, type Iil" 20605848 ENSG00000130921 C12orf65 20598281 613559 Combined oxidative phosphorylation deficiency 7 20598281 ENSG00000073578 SDHA 20551992 613642 "Cardiomyopathy, dilated, 1GG" 20551992 ENSG00000104321 TRPA1 20547126 615040 "Episodic pain syndrome, familial" 20547126 ENSG00000198835 GJC2 20537300 613480 "Lymphedema, hereditary, IC" 20537300 ENSG00000167775 CD320 20524213 613646 "Methylmalonic aciduria, transient, due to transcobalamin receptor defect" 20524213 ENSG00000030582 GRN 20522652 614706 "Ceroid lipofuscinosis, neuronal, 11" 20522652 ENSG00000055208 TAB2 20493459 614980 "Congenital heart defects, nonsyndromic, 2" 20493459 ENSG00000073578 SDHA 20484225 614165 Paragangliomas 5 20484225 ENSG00000165533 TTC8 20451172 613464 Retinitis pigmentosa 51 20451172 ENSG00000180318 ALX1 20451171 613456 Frontonasal dysplasia 3 20451171 ENSG00000124570 SERPINB6 20451170 613453 "Deafness, autosomal recessive 91" 20451170 ENSG00000123240 OPTN 20428114 613435 Amyotrophic lateral sclerosis 12 20428114 ENSG00000141756 FKBP10 20362275 610968 "Osteogenesis imperfecta, type XI" 20362275 ENSG00000156709 AIFM1 20362274 300816 Combined oxidative phosphorylation deficiency 6 20362274 ENSG00000163754 GYG1 20357282 613507 Glycogen storage disease XV 20357282 ENSG00000110651 CD81 20237408 613496 "Immunodeficiency, common variable, 6" 20237408 ENSG00000151445 VIPAS39 20190753 613404 "Arthrogryposis, renal dysfunction, and cholestasis 2" 20190753 ENSG00000149257 SERPINH1 20188343 613848 "Osteogenesis imperfecta, type X" 20188343 ENSG00000196236 XPNPEP3 20179356 613159 Nephronophthisis-like nephropathy 1 20179356 ENSG00000176058 TPRN 20170899 613307 "Deafness, autosomal recessive 79" 20170899 ENSG00000078747 ITCH 20170897 613385 "Autoimmune disease, multisystem, with facial dysmorphism" 20170897 ENSG00000087494 PTHLH 20170896 613382 "Brachydactyly, type E2" 20170896 ENSG00000151914 DST 20164846 615425 "Epidermolysis bullosa simplex, autosomal recessive 2" 20164846 ENSG00000169271 HSPB3 20142617 613376 "Neuronopathy, distal hereditary motor, type IIC" 20142617 ENSG00000215203 GRXCR1 20137778 613285 "Deafness, autosomal recessive 25" 20137778 ENSG00000013573 DDX11 20137776 613398 Warsaw breakage syndrome 20137776 ENSG00000039650 PNKP 20118933 613402 "Microcephaly, seizures, and developmental delay" 20118933 ENSG00000148600 CDHR1 20087419 613660 Cone-rod dystrophy 15 20087419 ENSG00000253710 ALG11 20080937 613661 "Congenital disorder of glycosylation, type Ip" 20080937 ENSG00000196091 MYBPC1 20045868 614335 "Arthrogryposis, distal, type 1B" 20045868 ENSG00000156738 MS4A1 20038800 613495 "Immunodeficiency, common variable, 5" 20038800 ENSG00000113966 ARL6 19956407 613575 Retinitis pigmentosa 55 19956407 ENSG00000154099 DNAAF1 19944400 613193 "Ciliary dyskinesia, primary, 13" 19944400 ENSG00000284547 MIR2861 19920351 613418 Bone mineral density QTL 15 19920351 ENSG00000179915 NRXN1 19896112 614325 Pitt-Hopkins-like syndrome 2 19896112 ENSG00000183785 TUBA8 19896110 613180 Polymicrogyria with optic nerve hypoplasia 19896110 ENSG00000110324 IL10RA 19890111 613148 "Inflammatory bowel disease 28, early onset, autosomal recessive" 19890111 ENSG00000162614 NEXN 19881492 613122 "Cardiomyopathy, dilated, 1CC" 19881492 ENSG00000213139 CRYGS 16141006 116100 "Cataract 20, multiple types" 16141006 ENSG00000026025 VIM 19126778 116300 Cataract 19126778 ENSG00000074582 BCS1L 11528392 124000 "Mitochondrial complex III deficiency, nuclear type 1" 11528392 ENSG00000084674 APOB 4368448 144010 "Hypercholesterolemia, due to ligand-defective apo B" 4368448 ENSG00000109163 GNRHR 9371856 146110 Hypogonadotropic hypogonadism 7 without anosmia 9371856 ENSG00000185245 GP1BA 1730088 153670 "Bernard-Soulier syndrome, type A2 (dominant)" 1730088 ENSG00000198691 ABCA4 9295268 153800 "Macular degeneration, age-related, 2" 9295268 ENSG00000162552 WNT4 15317892 158330 Mullerian aplasia and hyperandrogenism 15317892 ENSG00000134575 ACP2 5410815 200950 Lysosomal acid phosphatase deficiency 5410815 ENSG00000139197 PEX5 7719337 202370 Peroxisome biogenesis disorder 2B 7719337 ENSG00000105953 OGDH 7075624 203740 Alpha-ketoglutarate dehydrogenase deficiency 7075624 ENSG00000179583 CIITA 209920 "Bare lymphocyte syndrome, type II, complementation group A" 650344 ENSG00000168282 MGAT2 8808595 212066 "Congenital disorder of glycosylation, type Iia" 8808595 ENSG00000166278 C2 14446782 217000 C2 deficiency 14446782 ENSG00000240505 TNFRSF13B 16007087 240500 "Immunodeficiency, common variable, 2" 16007087 ENSG00000240505 TNFRSF13B 16007086 240500 "Immunodeficiency, common variable, 2" 16007086 ENSG00000101292 PROKR2 17054399 244200 Hypogonadotropic hypogonadism 3 with or without anosmia 17054399 ENSG00000082175 PGR 217888 264080 Progesterone resistance 217888 ENSG00000269335 IKBKG 11242109 300301 "Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency" 11242109 ENSG00000130821 SLC6A8 11326334 300352 Cerebral creatine deficiency syndrome 1 11326334 ENSG00000102145 GATA1 10700180 300367 "Thrombocytopenia, X-linked, with or without dyserythropoietic anemia" 10700180 ENSG00000089289 IGBP1 14556245 300472 "Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia" 14556245 ENSG00000008056 SYN1 14985377 300491 "Epilepsy, X-linked, with variable learning disabilities and behavior disorders, " 14985377 ENSG00000269335 IKBKG 15356572 300584 "Immunodeficiency, isolated" 15577852 ENSG00000124429 POF1B 16773570 300604 Premature ovarian failure 2B 16773570 ENSG00000131089 ARHGEF9 15215304 300607 "Epileptic encephalopathy, early infantile, 8" 15215304 ENSG00000189221 MAOA 8211186 300615 Brunner syndrome 8503438 ENSG00000189221 MAOA 8211186 300615 Antisocial behavior 8503438 ENSG00000102081 FMR1 11445641 300623 Fragile X tremor/ataxia syndrome 11445641 ENSG00000269335 IKBKG 16818673 300636 Immunodeficiency 33 16818673 ENSG00000102359 SRPX2 16497722 300643 "Rolandic epilepsy, mental retardation, and speech dyspraxia" 16497722 ENSG00000147044 CASK 19165920 300749 Mental retardation and microcephaly with pontine and cerebellar hypoplasia 19165920 ENSG00000158578 ALAS2 18760763 300752 "Protoporphyria, erythropoietic, X-linked" 18760763 ENSG00000198223 CSF2RA 18955567 300770 "Surfactant metabolism dysfunction, pulmonary, 4" 18955570 ENSG00000188706 ZDHHC9 17436253 300799 "Mental retardation, X-linked syndromic, Raymond type" 17436253 ENSG00000102003 SYP 19377476 300802 "Mental retardation, X-linked 96" 19377476 ENSG00000101850 GPR143 17516023 300814 "Nystagmus 6, congenital, X-linked" 18087240 ENSG00000147383 NSDHL 19377476 300831 CK syndrome 19842190 ENSG00000156313 RPGR 12160730 300834 "Macular degeneration, X-linked atrophic" 12160730 ENSG00000082458 DLG3 15185169 300850 "Mental retardation, X-linked 90" 15185169 ENSG00000077721 UBE2A 16909393 300860 "Mental retardation, X-linked syndromic, Nascimento-type" 16909393 ENSG00000147155 EBP 12503101 300960 MEND syndrome 12503101 ENSG00000155966 AFF2 1301146 309548 "Mental retardation, X-linked, FRAXE type" 1301146 ENSG00000152661 GJA1 11470490 600309 Atrioventricular septal defect 3 11470490 ENSG00000105639 JAK3 7659163 600802 "SCID, autosomal recessive, T-negative/B-positive type" 7659163 ENSG00000087086 FTL 7493028 600886 Hyperferritinemia-cataract syndrome 7669675 ENSG00000151067 CACNA1C 15454078 601005 Timothy syndrome 15454078 ENSG00000036828 CASR 7874174 601198 "Hypocalcemia, autosomal dominant" 7874174 ENSG00000144452 ABCA12 8845852 601277 "Ichthyosis, congenital, autosomal recessive 4A" 8845852 ENSG00000170624 SGCD 8841194 601287 "Muscular dystrophy, limb-girdle, type 2F" 8841194 ENSG00000163599 CTLA4 8817351 601388 "Diabetes mellitus, insulin-dependent, 12" 8817351 ENSG00000187486 KCNJ11 8923010 601820 "Hyperinsulinemic hypoglycemia, familial, 2" 8923010 ENSG00000091010 POU4F3 9506947 602459 "Deafness, autosomal dominant 15" 9506947 ENSG00000106633 GCK 9435328 602485 "Hyperinsulinemic hypoglycemia, familial, 3" 9435328 ENSG00000068078 FGFR3 9042914 602849 Muenke syndrome 9042914 ENSG00000135604 STX11 15703195 603552 "Hemophagocytic lymphohistiocytosis, familial, 4" 15703195 ENSG00000180644 PRF1 10583959 603553 "Hemophagocytic lymphohistiocytosis, familial, 2" 9915956 ENSG00000109927 TECTA 9949200 603629 "Deafness, autosomal recessive " 9949200 ENSG00000183873 SCN5A 7956363 603830 Long QT syndrome-3 8541846 ENSG00000198691 ABCA4 9466990 604116 Cone-rod dystrophy 3 9466990 ENSG00000163536 SERPINI1 10517635 604218 "Encephalopathy, familial, with neuroserpin inclusion bodies" 10517635 ENSG00000160202 CRYAA 9467006 604219 "Cataract 9, multiple types" 9467006 ENSG00000112964 GHR 7565946 604271 "Growth hormone insensitivity, partial" 7565946 ENSG00000156475 PPP2R2B 10581021 604326 Spinocerebellar ataxia 12 10581021 ENSG00000132170 PPARG 10622252 604367 "Lipodystrophy, familial partial, type 3" 10622252 ENSG00000130489 SCO2 10545952 604377 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" 10545952 ENSG00000081277 PKP1 9326952 604536 Ectodermal dysplasia/skin fragility syndrome 9326952 ENSG00000198807 PAX9 10615120 604625 "Tooth agenesis, selective, 3" 10615120 ENSG00000120149 MSX2 8106171 604757 Craniosynostosis 2 8357019 ENSG00000175084 DES 10430757 604765 "Cardiomyopathy, dilated, 1I" 10430757 ENSG00000151623 NR3C2 10884226 605115 "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" 10884226 ENSG00000105048 TNNT1 10952871 605355 "Nemaline myopathy 5, Amish type" 10952871 ENSG00000112319 EYA4 10769282 605362 "Cardiomyopathy, dilated, 1J" 10769282 ENSG00000160716 CHRNB2 11062464 605375 "Epilepsy, nocturnal frontal lobe, 3" 11062464 ENSG00000180176 TH 7814018 605407 "Segawa syndrome, recessive" 7814018 ENSG00000073734 ABCB11 15300568 605479 "Cholestasis, benign recurrent intrahepatic, 2" 15300568 ENSG00000152591 DSPP 11175790 605594 "Deafness, autosomal dominant 39, with dentinogenesis" 11175790 ENSG00000132837 DMGDH 10102904 605850 Dimethylglycine dehydrogenase deficiency 10102904 ENSG00000177156 TALDO1 11283793 606003 Transaldolase deficiency 11283793 ENSG00000115275 MOGS 10788335 606056 "Congenital disorder of glycosylation, type Iib" 10788335 ENSG00000196586 MYO6 11468689 606346 "Deafness, autosomal dominant 22" 11468689 ENSG00000134460 IL2RA 9096364 606367 Immunodeficiency 41 with lymphoproliferation and autoimmunity 9096364 ENSG00000162992 NEUROD1 10545951 606394 Maturity-onset diabetes of the young 6 10545951 ENSG00000164175 SLC45A2 11574907 606574 "Albinism, oculocutaneous, type IV" 11574907 ENSG00000174405 LIG4 11779494 606593 LIG4 syndrome 11779494 ENSG00000171867 PRNP 9266722 606688 Prion disease with protracted course 9266722 ENSG00000165091 TMC1 11850618 606705 "Deafness, autosomal dominant 36" 11850618 ENSG00000147889 CDKN2A 7666917 606719 Pancreatic cancer/melanoma syndrome 7666917 ENSG00000135636 DYSF 9731526 606768 "Myopathy, distal, with anterior tibial onset" 9731526 ENSG00000101017 CD40 11675497 606843 "Immunodeficiency with hyper-IgM, type 3" 11675497 ENSG00000155719 OTOA 11972037 607039 "Deafness, autosomal recessive 22" 11972037 ENSG00000095777 MYO3A 12032315 607101 "Deafness, autosomal recessive " 12032315 ENSG00000125454 SLC25A19 12185364 607196 "Microcephaly, Amish type" 12376931 ENSG00000140279 DUOX2 12110737 607200 Thyroid dyshormonogenesis 6 12110737 ENSG00000003393 ALS2 12145748 607225 "Spastic paralysis, infantile onset ascending" 12145748 ENSG00000042088 TDP1 12244316 607250 "Spinocerebellar ataxia, autosomal recessive with axonal neuropathy" 12244316 ENSG00000197912 SPG7 9635427 607259 "Spastic paraplegia 7, autosomal recessive" 9635427 ENSG00000064012 CASP8 12353035 607271 "Autoimmune lymphoproliferative syndrome, type IIB" 12353035 ENSG00000109929 SC5D 12189593 607330 Lathosterolosis 12189593 ENSG00000170262 MRAP 15654338 607398 Glucocorticoid deficiency 2 15654338 ENSG00000096696 DSP 12373648 607450 Arrhythmogenic right ventricular dysplasia 8 12373648 ENSG00000140522 RLBP1 10102298 607475 Bothnia retinal dystrophy 10102298 ENSG00000129170 CSRP3 12507422 607482 "Cardiomyopathy, dilated, 1M" 12507422 ENSG00000053918 KCNQ1 12522251 607554 "Atrial fibrillation, familial, 3" 12522251 ENSG00000204843 DCTN1 12627231 607641 "Neuropathy, distal hereditary motor, type VIIB" 12627231 ENSG00000167768 KRT1 11982762 607654 Keratosis palmoplantaris striata III 11982762 ENSG00000096696 DSP 11841538 607655 Skin fragility-woolly hair syndrome 11841538 ENSG00000277586 NEFL 12566280 607734 "Charcot-Marie-Tooth disease, type 1F" 12566280 ENSG00000163501 IHH 12632327 607778 Acrocapitofemoral dysplasia 12624140 ENSG00000196586 MYO6 12687499 607821 "Deafness, autosomal recessive 37" 12687499 ENSG00000198087 CD2AP 12764198 607832 "Glomerulosclerosis, focal segmental, 3" 12764198 ENSG00000119523 ALG2 12684507 607906 "Congenital disorder of glycosylation, type Ii" 12684507 ENSG00000186765 FSCN2 11527955 607921 Retinitis pigmentosa 30 11527955 ENSG00000136574 GATA4 12845333 607941 Atrial septal defect 2 12845333 ENSG00000172269 DPAGT1 12872255 608093 "Congenital disorder of glycosylation, type Ij" 12872255 ENSG00000076248 UNG 12958596 608106 "Immunodeficiency with hyper IgM, type 5" 12958596 ENSG00000092200 RPGRIP1 12920076 608194 Cone-rod dystrophy 13 12920076 ENSG00000128340 RAC2 10758162 608203 Neutrophil immunodeficiency syndrome 10758162 ENSG00000068305 MEF2A 14645853 608320 "Coronary artery disease, autosomal dominant, 1" 14645853 ENSG00000120708 TGFBI 9497262 608471 "Corneal dystrophy, lattice type IIIA" 9497262 ENSG00000069431 ABCC9 15034580 608569 "Cardiomyopathy, dilated, 1O" 15034580 ENSG00000168646 AXIN2 15042511 608615 Oligodontia-colorectal cancer syndrome 15042511 ENSG00000124164 VAPB 15372378 608627 Amyotrophic lateral sclerosis 8 15060112 ENSG00000106211 HSPB1 15122254 608634 "Neuropathy, distal hereditary motor, type IIB" 15122254 ENSG00000083307 GRHL2 12393799 608641 "Deafness, autosomal dominant 28, " 12393799 ENSG00000188095 MESP2 15122512 608681 "Spondylocostal dysostosis 2, autosomal recessive" 15122512 ENSG00000132031 MATN3 15121775 608728 Spondyloepimetaphyseal dysplasia 15121775 ENSG00000230223 ATXN8OS 10192387 608768 Spinocerebellar ataxia 8 10192387 ENSG00000086848 ALG9 15148656 608776 "Congenital disorder of glycosylation, type Il" 15148656 ENSG00000168434 COG7 15107842 608779 "Congenital disorder of glycosylation, type Iie" 15107842 ENSG00000000419 DPM1 10642597 608799 "Congenital disorder of glycosylation, type Ie" 10642597 ENSG00000189241 TSPYL1 15273283 608800 Sudden infant death with dysgenesis of the testes syndrome 15273283 ENSG00000198835 GJC2 15192806 608804 "Leukodystrophy, hypomyelinating, 2" 15192806 ENSG00000133424 LARGE1 12966029 608840 "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" 12966029 ENSG00000163132 MSX1 9683588 608874 Orofacial cleft 5 9683588 ENSG00000092929 UNC13D 14622600 608898 "Hemophagocytic lymphohistiocytosis, familial, 3" 14622600 ENSG00000153563 CD8A 11435463 608957 "CD8 deficiency, familial" 11435463 ENSG00000183770 FOXL2 12149404 608996 Premature ovarian failure 3 12149404 ENSG00000187017 ESPN 15286153 609006 "Deafness, autosomal recessive 36, Deafness, neurosensory, without vestibular involvement, autosomal dominant" 15286153 ENSG00000168827 GFM1 15537906 609060 Combined oxidative phosphorylation deficiency 1 15537906 ENSG00000171812 COL8A2 11689488 609140 "Corneal dystrophy, posterior polymorphous 2" 11689488 ENSG00000139219 COL2A1 8244341 609162 Czech dysplasia 8244341 ENSG00000129255 MPDU1 11733564 609180 "Congenital disorder of glycosylation, type If" 11733556 ENSG00000129255 MPDU1 11733556 609180 "Congenital disorder of glycosylation, type If" 11733556 ENSG00000106799 TGFBR1 15731757 609192 Loeys-Dietz syndrome 1 15731757 ENSG00000186081 KRT5 12925204 609352 Epidermylysis bullosa simplex-MCR 12925204 ENSG00000138696 BMPR1B 15805157 609441 "Acromesomelic dysplasia, Demirhan type" 15805157 ENSG00000122367 LDB3 15668942 609452 "Myopathy, myofibrillar, 4" 15668942 ENSG00000099940 SNAP29 15968592 609528 "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" 15968592 ENSG00000150275 PCDH15 14570705 609533 "Deafness, autosomal recessive 23" 14570705 ENSG00000066468 FGFR2 16061565 609579 "Scaphocephaly, maxillary retrusion, and mental retardation" 16061565 ENSG00000053918 KCNQ1 15159330 609621 Short QT syndrome 2 15159330 ENSG00000123700 KCNJ2 15761194 609622 Short QT syndrome 3 15761194 ENSG00000096696 DSP 16175511 609638 "Epidermolysis bullosa, lethal acantholytic" 16175511 ENSG00000187742 SECISBP2 16228000 609698 "Thyroid hormone metabolism, abnormal" 16228000 ENSG00000204248 COL11A2 16033917 609706 "Deafness, autosomal recessive 53" 16033917 ENSG00000115138 POMC 9620771 609734 "Obesity, adrenal insufficiency, and red hair due to POMC deficiency" 9620771 ENSG00000100053 CRYBB3 15914629 609741 Cataract 22 15914629 ENSG00000135766 EGLN1 16407130 609820 "Erythrocytosis, familial, 3" 16407130 ENSG00000100106 TRIOBP 16385458 609823 "Deafness, autosomal recessive 28" 16385458 ENSG00000166349 RAG1 16276422 609889 "Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity" 16276422 ENSG00000198523 PLN 12610310 609909 "Cardiomyopathy, dilated, 1P" 12610310 ENSG00000243989 ACY1 16274666 609924 Aminoacylase 1 deficiency 16274666 ENSG00000171105 INSR 15161766 609968 "Hyperinsulinemic hypoglycemia, familial, 5" 15161766 ENSG00000196177 ACADSB 11013134 610006 2-methylbutyrylglycinuria 11013134 ENSG00000135821 GLUL 16267323 610015 "Glutamine deficiency, congenital" 16267323 ENSG00000256525 POLG2 16685652 610131 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" 16685652 ENSG00000046604 DSG2 16505173 610193 Arrhythmogenic right ventricular dysplasia 10 16505173 ENSG00000205981 DNAJC19 16055927 610198 "3-methylglutaconic aciduria, type V" 16055927 ENSG00000178573 MAF 11772997 610202 "Cataract 21, multiple types" 11772997 ENSG00000141579 ZNF750 16751772 610227 Seborrhea-like dermatitis with psoriasiform elements 16751772 ENSG00000155256 ZFYVE27 16826525 610244 "Spastic paraplegia 33, autosomal dominant" 16826525 ENSG00000068615 REEP1 16826527 610250 "Spastic paraplegia 31, autosomal dominant" 16826527 ENSG00000196189 SEMA4A 16199541 610282 Retinitis pigmentosa 35 16199541 ENSG00000196189 SEMA4A 16199541 610283 Cone-rod dystrophy 10 16199541 ENSG00000143315 PIGM 16767100 610293 Glycosylphosphatidylinositol deficiency 16767100 ENSG00000175505 CLCF1 16782820 610313 Cold-induced sweating syndrome 2 16782820 ENSG00000120903 CHRNA2 16826524 610353 "Epilepsy, nocturnal frontal lobe, type 4" 16826524 ENSG00000122859 NEUROG3 16855267 610370 "Diarrhea 4, malabsorptive, congenital" 16855267 ENSG00000006071 ABCC8 16885549 610374 Diabetes mellitus transient neonatal 2 16885549 ENSG00000173976 RAX2 15028672 610381 Cone-rod dystrophy 11 15028672 ENSG00000175544 CABP4 16960802 610427 "Cone-rod synaptic disorder, congenital nonprogressive" 16960802 ENSG00000068078 FGFR3 17033969 610474 CATSHL syndrome 17033969 ENSG00000128655 PDE11A 16767104 610475 "Pigmented nodular adrenocortical disease, primary, 2" 16767104 ENSG00000151062 CACNA2D4 17033974 610478 Retinal cone dystrophy 4 17033974 ENSG00000182180 MRPS16 15505824 610498 Combined oxidative phosphorylation deficiency 2 15505824 ENSG00000123297 TSFM 17033963 610505 Combined oxidative phosphorylation deficiency 3 17033963 ENSG00000172059 KLF11 15774581 610508 "Maturity-onset diabetes of the young, type VII" 15774581 ENSG00000122591 FAM126A 16951682 610532 "Leukodystrophy, hypomyelinating, 5" 16951682 ENSG00000214140 PRCD 16938425 610599 Retinitis pigmentosa 36 16938425 ENSG00000107859 PITX3 9620774 610623 "Cataract 11, multiple types" 9620774 ENSG00000107859 PITX3 9620774 610623 "Cataract 11, syndromic" 9620774 ENSG00000163421 PROK2 17054399 610628 Hypogonadotropic hypogonadism 4 with or without anosmia 17054399 ENSG00000178952 TUFM 17160893 610678 Combined oxidative phosphorylation deficiency 4 17160893 ENSG00000165410 CFL2 17160903 610687 "Nemaline myopathy 7, autosomal recessive" 17160903 ENSG00000000971 CFH 15761122 610698 "Macular degeneration, age-related, 4" 15761122 ENSG00000128714 HOXD13 17236141 610713 Brachydactyly-syndactyly syndrome 17236141 ENSG00000138193 PLCE1 17086182 610725 "Nephrotic syndrome, type 3" 17086182 ENSG00000111276 CDKN1B 17030811 610755 "Multiple endocrine neoplasia, type IV" 17030811 ENSG00000104884 ERCC2 11443545 610756 Cerebrooculofacioskeletal syndrome 2 11443545 ENSG00000012061 ERCC1 17273966 610758 Cerebrooculofacioskeletal syndrome 4 17273966 ENSG00000175283 DOLK 17273964 610768 "Congenital disorder of glycosylation, type Im" 17273964 ENSG00000075415 SLC25A3 17273968 610773 Mitochondrial phosphate carrier deficiency 17273968 ENSG00000086288 NME8 17360648 610852 "Ciliary dyskinesia, primary, 6" 17360648 ENSG00000185008 ROBO2 17357069 610878 Vesicoureteral reflux 2 17357069 ENSG00000177045 SIX5 17357085 610896 Branchiootorenal syndrome 2 17357085 ENSG00000168484 SFTPC 11207353 610913 "Surfactant metabolism dysfunction, pulmonary, 2" 11207353 ENSG00000167972 ABCA3 15044640 610921 "Surfactant metabolism dysfunction, pulmonary, 3" 15044640 ENSG00000070018 LRP6 17332414 610947 "Coronary artery disease, autosomal dominant, 2" 17332414 ENSG00000175595 ERCC4 17183314 610965 XFE progeroid syndrome 17183314 ENSG00000136352 NKX2-1 9565498 610978 "Choreoathetosis, hypothyroidism, and neonatal respiratory distress" 9565498 ENSG00000135069 PSAT1 17436247 610992 "Phosphoserine aminotransferase deficiency, 20" 17436247 ENSG00000137710 RDX 17226784 611022 "Deafness, autosomal recessive 24" 17226784 ENSG00000235718 MFRP 17167404 611040 "Microphthalmia, isolated 5" 17167404 ENSG00000266173 STRADA 17522105 611087 "Polyhydramnios, megalencephaly, and symptomatic epilepsy" 17522105 ENSG00000164418 GRIK2 17847003 611092 "Mental retardation, autosomal recessive, 6" 17847003 ENSG00000213380 COG8 17220172 611182 "Congenital disorder of glycosylation, type Iih" 17220172 ENSG00000166685 COG1 16537452 611209 "Congenital disorder of glycosylation, type Iig" 16537452 ENSG00000068885 IFT80 17468754 611263 Short-rib thoracic dysplasia 2 with or without polydactyly 17468754 ENSG00000164532 TBX20 17668378 611363 Atrial septal defect 4 17668378 ENSG00000186111 PIP5K1C 17701898 611369 Lethal congenital contractural syndrome 3 17701898 ENSG00000125730 C3 17634448 611378 "Macular degeneration, age-related, 9" 17634448 ENSG00000125864 BFSP1 17225135 611391 Cataract 33 17225135 ENSG00000035403 VCL 11815424 611407 "Cardiomyopathy, dilated, 1W" 11815424 ENSG00000166068 SPRED1 17704776 611431 Legius syndrome 17704776 ENSG00000103249 CLCN7 11207362 611490 "Osteopetrosis, autosomal recessive 4" 11741829 ENSG00000126603 GLIS2 17618285 611498 Nephronophthisis 7 17618285 ENSG00000105397 TYK2 17088085 611521 Immunodeficiency 35 17088085 ENSG00000146282 RARS2 17847012 611523 "Pontocerebellar hypoplasia, type 6" 17847012 ENSG00000173801 JUP 17924338 611528 Arrhythmogenic right ventricular dysplasia 12 17924338 ENSG00000100122 CRYBB1 12360425 611544 "Cataract 17, multiple types" 12360425 ENSG00000106410 NOBOX 17701902 611548 Premature ovarian failure 5 17701902 ENSG00000132155 RAF1 17603483 611554 LEOPARD syndrome 2 17603483 ENSG00000104812 GYS1 17928598 611556 "Glycogen storage disease 0, muscle" 17928598 ENSG00000106692 FKTN 17044012 611588 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4" 17044012 ENSG00000004939 SLC4A1 9854053 611590 "Renal tubular acidosis, distal, AR" 9854053 ENSG00000170819 BFSP2 10739768 611597 "Cataract 12, multiple types" 10634598 ENSG00000170819 BFSP2 10729115 611597 "Cataract 12, multiple types" 10634598 ENSG00000167552 TUBA1A 17584854 611603 Lissencephaly 3 17218254 ENSG00000167552 TUBA1A 17218254 611603 Lissencephaly 3 17218254 ENSG00000106692 FKTN 17036286 611615 "Cardiomyopathy, dilated, 1X" 17036286 ENSG00000155657 TTN 17444505 611705 "Myopathy, early-onset, with fatal cardiomyopathy" 17444505 ENSG00000175110 MRPS22 17873122 611719 Combined oxidative phosphorylation deficiency 5 17873122 ENSG00000197746 PSAP 15773042 611722 "Krabbe disease, atypical" 15773042 ENSG00000243335 KCTD7 17455289 611726 "Epilepsy, progressive myoclonic 3, with or without intracellular inclusions" 17455289 ENSG00000142405 NLRP12 18230725 611762 Familial cold autoinflammatory syndrome 2 18230725 ENSG00000130203 APOE 9176854 611771 Lipoprotein glomerulopathy 9176854 ENSG00000116016 EPAS1 18184961 611783 "Erythrocytosis, familial, 4" 18184961 ENSG00000167995 BEST1 18179881 611809 "Bestrophinopathy, autosomal recessive" 18179881 ENSG00000177098 SCN4B 17592081 611819 Long QT syndrome-10 17592081 ENSG00000140416 TPM1 11273725 611878 "Cardiomyopathy, dilated, 1Y" 11273725 ENSG00000140416 TPM1 11273725 611878 Left ventricular noncompaction 9 11273725 ENSG00000114854 TNNC1 15542288 611879 "Cardiomyopathy, dilated, 1Z" 15542288 ENSG00000118729 CASQ2 11704930 611938 "Ventricular tachycardia, catecholaminergic polymorphic, 2" 11401939 ENSG00000101439 CST3 11815350 611953 "Macular degeneration, age-related, 11" 11815350 ENSG00000172115 CYCS 18345000 612004 Thrombocytopenia 4 18345000 ENSG00000032444 PNPLA6 18313024 612020 "Spastic paraplegia 39, autosomal recessive" 18313024 ENSG00000180228 PRKRA 18243799 612067 Dystonia 16 18420150 ENSG00000136143 SUCLA2 15877282 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 15877282 ENSG00000048392 RRM2B 17486094 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 17486094 ENSG00000048392 RRM2B 17486094 612075 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 17486094 ENSG00000106344 RBM28 18439547 612079 "Alopecia, neurologic defects, and endocrinopathy syndrome" 18439547 ENSG00000007062 PROM1 10587575 612095 Retinitis pigmentosa 41 10587575 ENSG00000100906 NFKBIA 14523047 612132 "Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency" 14523047 ENSG00000077522 ACTN2 14567970 612158 "Cardiomyopathy, dilated, 1AA, with or without LVNC" 14567970 ENSG00000106331 PAX4 17426099 612225 "Maturity-onset diabetes of the young, type IX" 17426099 ENSG00000144381 HSPD1 18571143 612233 "Leukodystrophy, hypomyelinating, 4" 18571143 ENSG00000128604 IRF5 17881657 612245 Inflammatory bowel disease 14 17881657 ENSG00000172936 MYD88 18669862 612260 "Pyogenic bacterial infections, recurrent, due to MYD88 deficiency" 18669862 ENSG00000109062 SLC9A3R1 18784102 612287 "Nephrolithiasis/osteoporosis, hypophosphatemic, 2" 18784102 ENSG00000105996 HOXA2 18394579 612290 "Microtia, hearing impairment, and cleft palate (AR)" 18394579 ENSG00000169427 KCNK9 18678320 612292 Birk-Barel mental retardation dysmorphism syndrome 18678320 ENSG00000183733 FIGLA 18499083 612310 Premature ovarian failure 6 18499083 ENSG00000103089 FA2H 19068277 612319 "Spastic paraplegia 35, autosomal recessive" 18463364 ENSG00000180509 KCNE1 9341873 612347 Jervell and Lange-Nielsen syndrome 2 9341873 ENSG00000165915 SLC39A13 18513683 612350 "Spondylocheirodysplasia, Ehlers-Danlos syndrome-like" 18513683 ENSG00000106397 PLOD3 18834968 612394 Lysyl hydroxylase 3 deficiency 18834968 ENSG00000125965 GDF5 17384641 612400 Osteoarthritis-5 17384641 ENSG00000165506 DNAAF2 19052621 612518 "Ciliary dyskinesia, primary, 10" 19052621 ENSG00000135100 HNF1A 9313763 612520 "Diabetes mellitus, insulin-dependent, 20" 9313763 ENSG00000169359 SLC33A1 19061983 612539 "Spastic paraplegia 42, autosomal dominant" 19061983 ENSG00000141349 G6PC3 19118303 612541 Dursun syndrome 19118303 ENSG00000141349 G6PC3 19118303 612541 "Neutropenia, severe congenital 4, autosomal recessive" 19118303 ENSG00000101365 IDH3B 18806796 612572 Retinitis pigmentosa 46 18806796 ENSG00000112367 FIG4 19118816 612577 Amyotrophic lateral sclerosis 11 19118816 ENSG00000129910 CDH15 19012874 612580 "Mental retardation, autosomal dominant 3 " 19012874 ENSG00000149571 KIRREL3 19012874 612581 Mental retardation autosomal dominant 4 19012874 ENSG00000197283 SYNGAP1 19196676 612621 "Mental retardation, autosomal dominant 5" 19196676 ENSG00000121742 GJB6 10471490 612643 "Deafness, autosomal dominant 3B" 10471490 ENSG00000188910 GJB3 9843210 612644 "Deafness, autosomal dominant 2B" 9843210 ENSG00000121742 GJB6 11807148 612645 "Deafness, autosomal recessive 1B" 11807148 ENSG00000111834 RSPH4A 19200523 612649 "Ciliary dyskinesia, primary, 11" 19200523 ENSG00000112144 ICK 19185282 612651 Endocrine-cerebroosteodysplasia 19185282 ENSG00000079215 SLC1A3 16116111 612656 "Episodic ataxia, type 6" 16116111 ENSG00000007062 PROM1 18654668 612657 Cone-rod dystrophy 12 18654668 ENSG00000007312 CD79B 17675462 612692 Agammaglobulinemia 6 17675462 ENSG00000123473 STIL 19215732 612703 "Microcephaly 7, primary, autosomal recessive" 19215732 ENSG00000131055 COX4I2 19268275 612714 "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" 19268275 ENSG00000159251 ACTC1 17947298 612794 Atrial septal defect 5 17947298 ENSG00000198682 PAPSS2 9771708 612847 Brachyolmia 4 with mild epiphyseal and metaphyseal changes 9714015 ENSG00000046604 DSG2 18678517 612877 "Cardiomyopathy, dilated, 1BB" 18678517 ENSG00000107104 KANK1 16301218 612900 "Cerebral palsy, spastic quadriplegic, 2" 16301218 ENSG00000096696 DSP 9887343 612908 Keratosis palmoplantaris striata II 9887343 ENSG00000124006 OBSL1 19481195 612921 3-M syndrome 2 19481195 ENSG00000108515 ENO3 11506403 612932 Glycogen storage disease XIII 11506403 ENSG00000221838 AP4M1 19559397 612936 "Spastic paraplegia 50, autosomal recessive" 19559397 ENSG00000179085 DPM3 19576565 612937 "Congenital disorder of glycosylation, type Io" 19576565 ENSG00000140718 FTO 19559399 612938 "Growth retardation, developmental delay, facial dysmorphism" 19559399 ENSG00000102678 FGF9 19589401 612961 Multiple synostoses syndrome 3 19589401 ENSG00000171202 TMEM126A 19327736 612989 Optic atrophy 7 19327736 ENSG00000113263 ITK 19425169 613011 Lymphoproliferative syndrome 1 19425169 ENSG00000110195 FOLR1 19732866 613068 Neurodegeneration due to cerebral folate transport deficiency 19732866 ENSG00000166828 SCNN1G 18507830 613071 Bronchiectasis with or without elevated sweat chloride 3 18507830 ENSG00000127554 GFER 19409522 613076 "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" 19409522 ENSG00000048392 RRM2B 19664747 613077 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" 19664747 ENSG00000167210 LOXHD1 19732867 613079 "Deafness, autosomal recessive 77" 19732867 ENSG00000095464 PDE6C 19615668 613093 Cone dystrophy 4 19615668 ENSG00000156466 GDF6 19129173 613094 "Microphthalmia, isolated 4" 19129173 ENSG00000076944 STXBP2 19804848 613101 "Hemophagocytic lymphohistiocytosis, familial, 5" 19804848 ENSG00000134762 DSC3 19765682 613102 Hypotrichosis and recurrent skin vesicles 19765682 ENSG00000172243 CLEC7A 19864674 613108 "Candidiasis, familial, 4, autosomal recessive" 19864674 ENSG00000101162 TUBB1 15956286 613112 "Macrothrombocytopenia, autosomal dominant, TUBB1-related" 15956286 ENSG00000154153 RETREG1 19838196 613115 "Neuropathy, hereditary sensory and autonomic, type IIB" 19838196 ENSG00000142319 SLC6A3 19478460 613135 "Parkinsonism-dystonia, infantile" 19478460 ENSG00000085998 POMGNT1 19067344 613151 "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3" 19067344 ENSG00000009830 POMT2 17634419 613156 "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2" 17634419 ENSG00000009830 POMT2 17878207 613158 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" 17923109 ENSG00000203867 RBM20 19712804 613172 "Cardiomyopathy, dilated, 1DD" 19712804 ENSG00000167995 BEST1 19853238 613194 "Retinitis pigmentosa, concentric" 19853238 ENSG00000167995 BEST1 19853238 613194 Retinitis pigmentosa-50 19853238 ENSG00000160789 LMNA 15148145 613205 "Muscular dystrophy, congenital" 15148145 ENSG00000198835 GJC2 19056803 613206 "Spastic paraplegia 44, autosomal recessive" 19056803 ENSG00000166415 WDR72 19853237 613211 "Amelogenesis imperfecta, type IIA3" 19853237 ENSG00000197616 MYH6 15998695 613252 "Cardiomyopathy, dilated, 1EE" 15998695 ENSG00000129991 TNNI3 19590045 613286 "Cardiomyopathy, dilated, 1FF" 19590045 ENSG00000254647 INS 18162506 613370 "Maturity-onset diabetes of the young, type 10" 18162506 ENSG00000159251 ACTC1 9563954 613424 "Cardiomyopathy, dilated, 1R" 9563954 ENSG00000092054 MYH7 11106718 613426 "Cardiomyopathy, dilated, 1S" 11106718 ENSG00000092054 MYH7 11106718 613426 Left ventricular noncompaction 5 11106718 ENSG00000176165 FOXG1 18571142 613454 "Rett syndrome, congenital variant" 18571142 ENSG00000177455 CD19 16672701 613493 "Immunodeficiency, common variable, 3" 16672701 ENSG00000159958 TNFRSF13C 19666484 613494 "Immunodeficiency, common variable, 4" 19666484 ENSG00000128322 IGLL1 9419212 613500 Agammaglobulinemia 2 9419212 ENSG00000105369 CD79A 10525050 613501 Agammaglobulinemia 3 10525050 ENSG00000095585 BLNK 10583958 613502 Agammaglobulinemia 4 10583958 ENSG00000136802 LRRC8A 14660746 613506 Agammaglobulinemia 5 14660746 ENSG00000164597 COG5 19690088 613612 "Congenital disorder of glycosylation, type Iii" 19690088 ENSG00000179111 HES7 18775957 613686 "Spondylocostal dysostosis 4, autosomal recessive" 18775957 ENSG00000159197 KCNE2 10219239 613693 Long QT syndrome 6 10219239 ENSG00000080815 PSEN1 17186461 613694 "Cardiomyopathy, dilated, 1U" 17186461 ENSG00000156466 GDF6 19864492 613703 "Microphthalmia with coloboma 6, digenic" 19864492 ENSG00000184344 GDF3 19864492 613703 Microphthalmia with coloboma 6 19864492 ENSG00000184344 GDF3 19864492 613704 "Microphthalmia, isolated 7" 19864492 ENSG00000116030 SUMO1 16990542 613705 Orofacial cleft 10 16990542 ENSG00000125454 SLC25A19 19798730 613710 Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) 19798730 ENSG00000075043 KCNQ2 12742592 613720 "Epileptic encephalopathy, early infantile, 7 " 12742592 ENSG00000136531 SCN2A 15028761 613721 "Epileptic encephalopathy, early infantile, 11" 15028761 ENSG00000116171 SCP2 16685654 613724 Leukoencephalopathy with dystonia and motor neuropathy 16685654 ENSG00000140459 CYP11A1 11502818 613743 "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" 11502818 ENSG00000129535 NRL 10192380 613750 Retinitis pigmentosa 10192380 ENSG00000114739 ACVR2B 9916847 613751 "Heterotaxy, visceral, 4, autosomal" 9916847 ENSG00000198515 CNGA1 7479749 613756 Retinitis pigmentosa 49 7479749 ENSG00000173976 RAX2 15028672 613757 "Macular degeneration, age-related, 6" 15028672 ENSG00000130561 SAG 9565049 613758 Retinitis pigmentosa 47 9565049 ENSG00000109846 CRYAB 11577372 613763 Cataract 11577372 ENSG00000155657 TTN 10462489 613765 "Cardiomyopathy, familial hypertrophic, 9" 10462489 ENSG00000070729 CNGB1 11379879 613767 Retinitis pigmentosa 45 11379879 ENSG00000148604 RGR 10581022 613769 Retinitis pigmentosa 44 10581022 ENSG00000182326 C1S 9856483 613783 C1s deficiency 9856483 ENSG00000168329 CX3CR1 15208270 613784 "Macular degeneration, age-related, 12" 15208270 ENSG00000009724 MASP2 12904520 613791 MASP2 deficiency 12904520 ENSG00000116745 RPE65 9326941 613794 Retinitis pigmentosa 9326941 ENSG00000115415 STAT1 12590259 613796 "Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive" 12590259 ENSG00000133256 PDE6B 8394174 613801 Retinitis pigmentosa-40 8394174 ENSG00000132915 PDE6A 7493036 613810 Retinitis pigmentosa 43 7493036 ENSG00000172817 CYP7B1 9802883 613812 "Bile acid synthesis defect, congenital, 3" 9802883 ENSG00000160602 NEK8 18199800 613824 Nephronophthisis 9 18199800 ENSG00000156413 FUT6 8175676 613852 Fucosyltransferase 6 deficiency 8175676 ENSG00000130283 GDF1 17924340 613854 "Transposition of great arteries, dextro-looped 3" 17924340 ENSG00000182389 CACNB4 10762541 613855 "Episodic ataxia, type 5" 10762541 ENSG00000134183 GNAT2 12077706 613856 Achromatopsia 4 12077706 ENSG00000142748 FCN3 19535802 613860 Immunodeficiency due to ficolin 3 deficiency 19535802 ENSG00000153208 MERTK 11062461 613862 Retinitis pigmentosa 38 11062461 ENSG00000170615 SLC26A5 12719379 613865 "Deafness, autosomal recessive 61" 12719379 ENSG00000278540 ACACA 6114432 613933 Acetyl-CoA carboxylase deficiency 6114432 ENSG00000165588 OTX2 18728160 613986 "Pituitary hormone deficiency, combined, 6" 18728160 ENSG00000145912 NHP2 18523010 613987 "Dyskeratosis congenita, autosomal recessive 2" 18523010 ENSG00000164362 TERT 16247010 613989 "Dyskeratosis congenita, autosomal dominant 2" 16247010 ENSG00000164362 TERT 16247010 613989 "Dyskeratosis congenita, autosomal recessive 4" 16247010 ENSG00000092330 TINF2 18252230 613990 "Dyskeratosis congenita, autosomal dominant 3" 18252230 ENSG00000110245 APOC3 2022742 614028 Apolipoprotein C-III deficiency 2022742 ENSG00000063854 HAGH 5485124 614033 Glyoxalase II deficiency 5485124 ENSG00000159261 CLDN14 11163249 614035 "Deafness, autosomal recessive 29" 11163249 ENSG00000175899 A2M 94459 614036 Alpha-2-macroglobulin deficiency 94459 ENSG00000213316 LTC4S 9820300 614037 Leukotriene C4 synthase deficiency 9820300 ENSG00000107796 ACTA2 19409525 614042 Moyamoya disease 5 19409525 ENSG00000175606 TMEM70 18953340 614052 "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2" 18953340 ENSG00000120437 ACAT2 20597 614055 ACAT2 deficiency 20597 ENSG00000197616 MYH6 15735645 614089 Atrial septal defect 3 15735645 ENSG00000115414 FN1 2869211 614101 Plasma fibronectin deficiency 2869211 ENSG00000168291 PDHB 15138885 614111 Pyruvate dehydrogenase E1-beta deficiency 15138885 ENSG00000112280 COL9A1 11565064 614135 "Epiphyseal dysplasia, multiple, 6" 11565064 ENSG00000106605 BLVRA 19580635 614156 Hyperbiliverdinemia 19580635 ENSG00000059377 TBXAS1 6101498 614158 Thromboxane synthase deficiency 6101498 ENSG00000138379 MSTN 15215484 614160 Muscle hypertrophy 15215484 ENSG00000113231 PDE8B 18272904 614190 "Pigmented nodular adrenocortical disease, primary, 3" 18272904 ENSG00000181481 RNF135 17632510 614192 "Macrocephaly, macrosomia, facial dysmorphism syndrome" 17632510 ENSG00000100987 VSX1 15051220 614195 ?Craniofacial anomalies and anterior segment dysgenesis syndrome 15051220 ENSG00000007314 SCN4A 12766226 614198 Myasthenic syndrome congenital 12766226 ENSG00000088053 GP6 19549989 614201 "Bleeding disorder, platelet-type, 11" 19549989 ENSG00000242110 AMACR 10655068 614307 Alpha-methylacyl-CoA racemase deficiency 10655068 ENSG00000182533 CAV3 11805270 614321 "Myopathy, distal, Tateyama type" 11805270 ENSG00000111046 MYF6 11053684 614408 "Myopathy, centronuclear, 3" 11053684 ENSG00000136574 GATA4 18672102 614429 Ventricular septal defect 1 18672102 ENSG00000164442 CITED2 16287139 614431 Ventricular septal defect 2 16287139 ENSG00000164442 CITED2 16287139 614433 Atrial septal defect 8 16287139 ENSG00000140092 FBLN5 12618961 614434 "Cutis laxa, autosomal dominant 2" 12618961 ENSG00000178726 THBD 7811989 614486 Thrombophilia due to thrombomodulin defect 7811989 ENSG00000165970 SLC6A5 16751771 614618 Hyperekplexia 3 16751771 ENSG00000109738 GLRB 11929858 614619 "Hyperekplexia 2, autosomal recessive" 11929858 ENSG00000049167 ERCC8 19329487 614621 UV-sensitive syndrome 2 19329487 ENSG00000148459 PDSS1 17332895 614651 "Coenzyme Q10 deficiency, primary, 2" 17332895 ENSG00000164494 PDSS2 17186472 614652 "Coenzyme Q10 deficiency, primary, 3" 17186472 ENSG00000083937 CHMP2B 16807408 614696 Amyotrophic lateral sclerosis 17 16807408 ENSG00000270141 TERC 9572992 614743 Aplastic anemia 9572992 ENSG00000116014 KISS1R 14573733 614837 Hypogonadotropic hypogonadism 8 with or without anosmia 12788881 ENSG00000165802 NSMF 15362570 614838 Hypogonadotropic hypogonadism 9 with or without anosmia 15362570 ENSG00000113302 IL12B 9854038 614890 "Immunodeficiency 29, mycobacteriosis" 9854038 ENSG00000096996 IL12RB1 9603733 614891 Immunodeficiency 9603732 ENSG00000096996 IL12RB1 9603732 614891 Immunodeficiency 9603732 ENSG00000115415 STAT1 11452125 614892 "Immunodeficiency 31A, mycobacteriosis, autosomal dominant" 11452125 ENSG00000079739 PGM1 19625727 614921 "Congenital disorder of glycosylation, type It" 19625727 ENSG00000186197 EDARADD 17354266 614940 "Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" 17354266 ENSG00000174697 LEP 9202122 614962 "Obesity, morbid, due to leptin deficiency" 9202122 ENSG00000116678 LEPR 9537324 614963 "Obesity, morbid, due to leptin receptor deficiency" 9537324 ENSG00000005471 ABCB4 9419367 614972 "Cholestasis, intrahepatic, of pregnancy, 3" 9419367 ENSG00000138207 RBP4 9888420 615147 "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" 9888420 ENSG00000156467 UQCRB 12709789 615158 "Mitochondrial complex III deficiency, nuclear type 3" 12709789 ENSG00000164405 UQCRQ 18439546 615159 "Mitochondrial complex III deficiency, nuclear type 4" 18439546 ENSG00000109846 CRYAB 16483541 615184 "Cardiomyopathy, dilated, 1II" 16483541 ENSG00000112769 LAMA4 17646580 615235 "Cardiomyopathy, dilated, 1JJ" 17646580 ENSG00000105370 LIM2 11917274 615277 "Cataract 19, multiple types" 11917274 ENSG00000169032 MAP2K1 16439621 615279 Cardiofaciocutaneous syndrome 3 16439621 ENSG00000125965 GDF5 16127465 615298 "Symphalangism, proximal, 1B" 16127465 ENSG00000120693 SMAD9 19211612 615342 "Pulmonary hypertension, primary, 2" 19211612 ENSG00000091831 ESR1 8090165 615363 Estrogen resistance 8090165 ENSG00000134571 MYBPC3 12379228 615396 "Cardiomyopathy, dilated, 1MM" 12379228 ENSG00000171723 GPHN 11095995 615501 Molybdenum cofactor deficiency C 11095995 ENSG00000167996 FTH1 11389486 615517 "Hemochromatosis, type 5" 11389486 ENSG00000113494 PRLR 18779591 615554 Multiple fibroadenomas of the breast 18779591 ENSG00000087086 FTL 15173247 615604 "L-ferritin deficiency, dominant and recessive" 15173247 ENSG00000167286 CD3D 14602880 615617 Immunodeficiency 19 14602880 ENSG00000203747 FCGR3A 8608639 615707 Immunodeficiency 20 8608639 ENSG00000170465 KRT6C 19609311 615735 "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse" 19609311 ENSG00000182866 LCK 9664084 615758 Immunodeficiency 22 9664084 ENSG00000171401 KRT13 7493031 615785 White sponge nevus 2 7493031 ENSG00000096696 DSP 16628197 615821 "Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis" 16628197 ENSG00000121853 GHSR 16511605 615925 "Growth hormone deficiency, isolated partial" 16511605 ENSG00000277494 GPIHBP1 17883852 615947 "Hyperlipoproteinemia, type 1D" 17883852 ENSG00000167748 KLK1 11912256 615953 "Kallikrein, decreased urinary activity of" 11912256 ENSG00000099769 IGFALS 14762184 615961 "Acid-labile subunit, deficiency of" 14762184 ENSG00000170175 CHRNB1 8872460 616313 "Myasthenic syndrome, congenital, 2A, slow-channel" 8872460 ENSG00000170175 CHRNB1 10562302 616314 "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency" 10562302 ENSG00000135902 CHRND 11782989 616321 "Myasthenic syndrome, congenital, 3A, slow-channel" 11782989 ENSG00000135902 CHRND 11435464 616322 "Myasthenic syndrome, congenital, 3B, fast-channel" 11435464 ENSG00000135902 CHRND 16916845 616323 "Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency" 16916845 ENSG00000030304 MUSK 15496425 616325 "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" 15496425 ENSG00000187486 KCNJ11 15784703 616329 "Maturity-onset diabetes of the young, type 13" 15784703 ENSG00000163161 ERCC3 9012405 616390 "Trichothiodystrophy 2, photosensitive" 9012405 ENSG00000138061 CYP1B1 11403040 617315 "Anterior segment dysgenesis 6, multiple subtypes" 11403040 ENSG00000105711 SCN1B 19710327 617350 "Epileptic encephalopathy, early infantile, 52" 19710327 ENSG00000105429 MEGF8 23063620 614976 Carpenter syndrome 2 "Altunhan, H., Annagur, A., Ors, R. The association of Carpenter syndrome and situs inversus totalis: first case report. Turk. Klin. J. Med. Sci. 31: 464-467, 2011." ENSG00000048545 GUCA1A 9425234 602093 Cone dystrophy-3 "Payne, A. M., Downes, S. M., Bessant, D. A. R., Taylor, R., Fitzke, F. W., Holder, G., Bird, A. C., Bhattacharya, S. New locus for autosomal dominant cone dystrophy mapping to 6p21.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A290 only, 1997." ENSG00000048545 GUCA1A 9425234 602093 Cone-rod dystrophy 14 "Payne, A. M., Downes, S. M., Bessant, D. A. R., Taylor, R., Fitzke, F. W., Holder, G., Bird, A. C., Bhattacharya, S. New locus for autosomal dominant cone dystrophy mapping to 6p21.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A290 only, 1997." ENSG00000186832 KRT16 8595410 613000 "Palmoplantar keratoderma, nonepidermolytic, focal" "Stevens, H. P., Kelsell, D. P., Spurr, N. K., Bishop, D. T., Purkis, P. E., Griffiths, W. A. D., Rustin, M. H. A., Leigh, I. M. Keratin staining and linkage of non-epidermolytic focal palmoplantar keratodermas (PPK) to 17q. (Abstract) Brit. J. Derm. 131: 425 only, 1994." ENSG00000131100 ATP6V1E1 28065471 617402 "Cutis laxa, autosomal recessive, type IIC" 28065471 ENSG00000156983 BRPF1 27939639 617333 Intellectual developmental disorder with dysmorphic facies and ptosis 27939639 ENSG00000101935 AMMECR1 27811305 300990 "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" 27811305 ENSG00000182492 BGN 27632686 300989 Meester-Loeys syndrome 27632686 ENSG00000034693 PEX3 27557811 617370 Peroxisome biogenesis disorder 10B 27557811 ENSG00000139719 VPS33A 27547915 617303 Mucopolysaccharidosis-plus syndrome 27547915 ENSG00000138411 HECW2 27389779 617268 "Neurodevelopmental disorder with hypotonia, seizures, and absent language" 27334371 ENSG00000198336 MYL4 27066836 617280 "Atrial fibrillation, familial, 18" 25807286 ENSG00000134313 KIDINS220 27005418 617296 "Spastic paraplegia, intellectual disability, nystagmus, and obesity" 26083449 ENSG00000144406 UNC80 26708751 616801 "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2" 26708751 ENSG00000196876 SCN8A 26677014 617080 "Seizures, benign familial infantile, 5" 26677014 ENSG00000172500 FIBP 26660953 617107 Thauvin-Robinet-Faivre syndrome 26660953 ENSG00000198920 KIAA0753 26643951 617127 Orofaciodigital syndrome XV 26643951 ENSG00000112276 BVES 26642364 616812 "Muscular dystrophy, limb-girdle, type 2X" 26642364 ENSG00000118503 TNFAIP3 26642243 616744 "Autoinflammatory syndrome, familial, Behcet-like" 26642243 ENSG00000100348 TXN2 26626369 616811 Combined oxidative phosphorylation deficiency 29 26626369 ENSG00000090924 PLEKHG2 26573021 616763 Leukodystrophy and acquired microcephaly with or without dystonia 26573021 ENSG00000198836 OPA1 26561570 616896 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 26561570 ENSG00000145982 FARS2 26553276 617046 "?Spastic paraplegia 77, autosomal recessive" 25851414 ENSG00000149196 HIKESHI 26545878 616881 "Leukodystrophy, hypomyelinating, 13" 26545878 ENSG00000103148 NPRL3 26505888 617118 "Epilepsy, familial focal, with variable foci 3" 26505888 ENSG00000114388 NPRL2 26505888 617116 "Epilepsy, familial focal, with variable foci 2" 26505888 ENSG00000072756 TRNT1 26494905 616959 Retinitis pigmentosa and erythrocytic microcytosis 26494905 ENSG00000151806 GUF1 26486472 617065 "Epileptic encephalopathy, early infantile, 40" 26486472 ENSG00000133731 IMPA1 26416544 617323 "Mental retardation, autosomal recessive 59" 26416544 ENSG00000128917 DLL4 26299364 616589 Adams-Oliver syndrome 6 25132448 ENSG00000168658 VWA3B 26157035 616948 "Spinocerebellar ataxia, autosomal recessive 22" 26157035 ENSG00000168389 MFSD2A 26005868 616486 "Microcephaly 15, primary, autosomal recessive" 24828044 ENSG00000068654 POLR1A 25913037 616462 "Acrofacial dysostosis, Cincinnati type" 25434003 ENSG00000134905 CARS2 25787132 616672 Combined oxidative phosphorylation deficiency 27 25361775 ENSG00000106290 TAF6 25558065 617126 Alazami-Yuan syndrome 25558065 ENSG00000108963 DPH1 25558065 616901 "Developmental delay with short stature, dysmorphic features, and sparse hair" 25558065 ENSG00000145348 TBCK 25558065 616900 "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3" 25558065 ENSG00000173409 ARV1 25558065 617020 "Epileptic encephalopathy, early infantile, 38" 25558065 ENSG00000198860 TSEN15 25558065 617026 "Pontocerebellar hypoplasia, type 2F" 25558065 ENSG00000148204 CRB2 25557779 616220 Focal segmental glomerulosclerosis 9 25557779 ENSG00000165898 ISCA2 25539947 616370 Multiple mitochondrial dysfunctions syndrome 4 25539947 ENSG00000105568 PPP2R1A 25533962 616362 "Mental retardation, autosomal dominant 36" 25533962 ENSG00000112640 PPP2R5D 25533962 616355 "Mental retardation, autosomal dominant 35" 25533962 ENSG00000113163 COL4A3BP 25533962 616351 "Mental retardation, autosomal dominant 34" 25533962 ENSG00000188517 COL25A1 25500261 616219 "Fibrosis of extraocular muscles, congenital, 5" 25500261 ENSG00000129159 KCNC1 25401298 616187 "Epilepsy, progressive myoclonic 7" 25401298 ENSG00000151474 FRMD4A 25388005 616819 "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" 25388005 ENSG00000168944 CEP120 25361962 616300 Short-rib thoracic dysplasia 13 with or without polydactyly 25361962 ENSG00000203877 RIPPLY2 25343988 616566 Spondylocostal dysostosis 6 25343988 ENSG00000164073 MFSD8 25227500 616170 Macular dystrophy with central cone involvement 25227500 ENSG00000072756 TRNT1 25193871 616084 "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" 23553769 ENSG00000138002 IFT172 25168386 616394 Retinitis pigmentosa 71 25168386 ENSG00000130703 OSBPL2 25077649 616340 "Deafness, autosomal dominant 67" 25077649 ENSG00000135775 COG2 24784932 617395 "Congenital disorder of glycosylation, type IIq" 24784932 ENSG00000172409 CLP1 24766810 615803 "Pontocerebellar hypoplasia, type 10" 23474986 ENSG00000172409 CLP1 24766809 615803 "Pontocerebellar hypoplasia, type 10" 23474986 ENSG00000101210 EEF1A2 24697219 616393 "Mental retardation, autosomal dominant 38" 24697219 ENSG00000138078 PREPL 24610330 616224 "Myasthenic syndrome, congenital, 22" 23794250 ENSG00000166402 TUB 24375934 616188 Retinal dystrophy and obesity 24375934 ENSG00000104218 CSPP1 24360808 615636 Joubert syndrome 21 24360808 ENSG00000107745 MICU1 24336167 615673 Myopathy with extrapyramidal signs 24336167 ENSG00000108797 CNTNAP1 24319099 616286 Lethal congenital contracture syndrome 7 24319099 ENSG00000174233 ADCY6 24319099 616287 Lethal congenital contracture syndrome 8 24319099 ENSG00000134569 LRP4 24234652 616304 "Myasthenic syndrome, congenital, 17" 24234652 ENSG00000180879 SSR4 24218363 300934 "Congenital disorder of glycosylation, type Iy" 24218363 ENSG00000168267 PTF1A 24212882 615935 Pancreatic agenesis 2 24212882 ENSG00000080561 MID2 24115387 300928 "Mental retardation, X-linked 101" 24115387 ENSG00000196159 FAT4 24056717 615546 Van Maldergem syndrome 2 22473091 ENSG00000136156 ITM2B 24026677 616079 Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities 24026677 ENSG00000126870 WDR60 23910462 615503 Short-rib thoracic dysplasia 8 with or without polydactyly 22791528 ENSG00000140873 ADAMTS18 23818446 615458 "Microcornea, myopic chorioretinal atrophy, and telecanthus" 22686506 ENSG00000197565 COL4A6 23714752 300914 "Deafness, X-linked 6" 23714752 ENSG00000153187 HNRNPU 23708187 617391 "Epileptic encephalopathy, early infantile, 54" 22581936 ENSG00000101346 POFUT1 23684010 615327 Dowling-Degos disease 2 23018017 ENSG00000168280 KIF5C 23603762 615282 "Cortical dysplasia, complex, with other brain malformations 2" 23033978 ENSG00000153933 DGKE 23274426 615008 "Nephrotic syndrome, type 7" 23274426 ENSG00000171551 ECEL1 23261301 615065 "Arthrogryposis, distal, type 5D" 23261301 ENSG00000183423 LRIT3 23246293 615058 "Night blindness, congenital stationary (complete), 1F, autosomal recessive" 23246293 ENSG00000121879 PIK3CA 23246288 615108 Cowden syndrome 5 23246288 ENSG00000142208 AKT1 23246288 615109 Cowden syndrome 6 23246288 ENSG00000184302 SIX6 23167593 212550 Optic disc anomalies with retinal and/or macular dystrophy 23167593 ENSG00000079805 DNM2 23092955 615368 Lethal congenital contracture syndrome 5 23092955 ENSG00000186487 MYT1L 23033978 616521 "Mental retardation, autosomal dominant 39" 21990140 ENSG00000167791 CABP2 22981119 614899 "Deafness, autosomal recessive 93" 21542834 ENSG00000174720 LARP7 22865833 615071 Alazami syndrome 21937992 ENSG00000250479 CHCHD10 22535186 615048 "Spinal muscular atrophy, Jokela type" 21715705 ENSG00000051180 RAD51 22305526 614508 Mirror movements 2 21242494 ENSG00000134871 COL4A2 22209246 614483 Porencephaly 2 22209246 ENSG00000139193 CD27 22197273 615122 Lymphoproliferative syndrome 2 22197273 ENSG00000109103 UNC119 22184408 615518 Cone-rod dystrophy (3)?Immunodeficiency 13 22184408 ENSG00000148704 VAX1 22095910 614402 "Microphthalmia, syndromic 11" 22095910 ENSG00000141506 PIK3R5 22065524 615217 Ataxia-oculomotor apraxia 3 22065524 ENSG00000117322 CR2 22035880 614699 "Immunodeficiency, common variable, 7" 22035880 ENSG00000157796 WDR19 22019273 614376 Short-rib thoracic dysplasia 5 with or without polydactyly 19430947 ENSG00000166548 TK2 21937588 617069 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" 21937588 ENSG00000177239 MAN1B1 21763484 614202 "Mental retardation, autosomal recessive 15" 20345473 ENSG00000165478 HEPACAM 21419380 613925 Megalencephalic leukoencephalopathy with subcortical cysts 2A 20517947 ENSG00000165478 HEPACAM 21419380 613926 "Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation" 20517947 ENSG00000122026 RPL21 21412954 615885 Hypotrichosis 12 19751230 ENSG00000119650 IFT43 21378380 614099 Cranioectodermal dysplasia 3 20493458 ENSG00000198513 ATL1 21194679 613708 "Neuropathy, hereditary sensory, type ID" 21194679 ENSG00000186184 POLR1D 21131976 613717 Treacher Collins syndrome 2 21131976 ENSG00000141519 CCDC40 21131974 613808 "Ciliary dyskinesia, primary, 15" 21131974 ENSG00000081014 AP4E1 20972249 613744 "Spastic paraplegia 51, autosomal recessive" 20972249 ENSG00000118873 RAB3GAP2 20967465 614225 Warburg micro syndrome 2 20967465 ENSG00000182054 IDH2 20847235 613657 D-2-hydroxyglutaric aciduria 2 19228619 ENSG00000187288 CIDEC 20049731 615238 "Lipodystrophy, familial partial, type 5" 18654663 ENSG00000134982 APC 8102685 135290 "Desmoid disease, hereditary" 1544113 ENSG00000116701 NCF2 2770793 233710 Chronic granulomatous disease due to deficiency of NCF-2 2848318 ENSG00000124253 PCK1 179269 261680 "Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency" 1092127 ENSG00000140274 DUOXA2 18042646 274900 "Thyroid dyshormonogenesis 5, " 18042646 ENSG00000079482 OPHN1 9582072 300486 "Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance" 9195162 ENSG00000269335 IKBKG 16950813 300640 "Invasive pneumococcal disease, recurrent isolated, 2" 16950813 ENSG00000008086 CDKL5 15499549 300672 "Epileptic encephalopathy, early infantile, 2" 12746405 ENSG00000008086 CDKL5 15492925 300672 "Epileptic encephalopathy, early infantile, 2" 12746405 ENSG00000101204 CHRNA4 7550350 600513 "Epilepsy, nocturnal frontal lobe, 1" 7906762 ENSG00000157184 CPT2 1528846 600649 "CPT II deficiency, infantile" 1999498 ENSG00000137474 MYO7A 9354784 601317 "Deafness, autosomal dominant 11 " 8776602 ENSG00000088035 ALG6 10359825 603147 "Congenital disorder of glycosylation, type Ic" 9710431 ENSG00000105711 SCN1B 9697698 604233 "Epilepsy, generalized, with febrile seizures plus, type 1" 9126059 ENSG00000106327 TFR2 10802645 604250 "Hemochromatosis, type 3" 10216143 ENSG00000144285 SCN1A 10742094 604403 "Epilepsy, generalized, with febrile seizures plus, type 2" 10486327 ENSG00000143252 SDHC 11062460 605373 Paragangliomas 3 10541590 ENSG00000181027 FKRP 11592034 606612 "Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" 11053680 ENSG00000124713 GNMT 11810299 606664 Glycine N-methyltransferase deficiency 11596649 ENSG00000159363 ATP13A2 16964263 606693 Kufor-Rakeb syndrome 15986421 ENSG00000139549 DHH 11017805 607080 "46XY partial gonadal dysgenesis, with minifascicular neuropathy" 10483790 ENSG00000196569 LAMA2 7550355 607855 "Muscular dystrophy, congenital merosin-deficient" 8000914 ENSG00000196569 LAMA2 7550355 607855 "Muscular dystrophy, congenital, due to partial LAMA2 deficiency" 8000914 ENSG00000124198 ARFGEF2 14647276 608097 Periventricular heterotopia with microcephaly 12682315 ENSG00000108823 SGCA 8069911 608099 "Muscular dystrophy, limb-girdle, type 2D" 8281158 ENSG00000168685 IL7R 9843216 608971 "Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type" 9068311 ENSG00000177542 SLC25A22 15592994 609304 "Epileptic encephalopathy, early infantile, 3" 15592994 ENSG00000102466 FGF14 12489043 609307 Spinocerebellar ataxia 12123606 ENSG00000144285 SCN1A 16054936 609634 "Migraine, familial hemiplegic, 3" 15277634 ENSG00000204311 PJVK 17301963 610220 "Deafness, autosomal recessive 59" 16804542 ENSG00000197753 LHFPL5 16459341 610265 "Deafness, autosomal recessive 67" 15905332 ENSG00000187486 KCNJ11 15784703 610582 "Diabetes mellitus, transient neonatal, 3" 15115830 ENSG00000177666 PNPLA2 17187067 610717 Neutral lipid storage disease with myopathy 17187067 ENSG00000131018 SYNE1 17159980 610743 "Spinocerebellar ataxia, autosomal recessive 8" 17159980 ENSG00000116586 LAMTOR2 17195838 610798 Immunodeficiency due to defect in MAPBP-interacting protein 17195838 ENSG00000198001 IRAK4 16950813 610799 "Invasive pneumococcal disease, recurrent isolated, 1" 16950813 ENSG00000171680 PLEKHG5 17564964 611067 "Spinal muscular atrophy, distal, autosomal recessive, 4" 16728649 ENSG00000152779 SLC16A12 18304496 612018 "Cataract 47, juvenile, with microcornea" 17458810 ENSG00000136854 STXBP1 18469812 612164 "Epileptic encephalopathy, early infantile, 4" 18065176 ENSG00000171316 CHD7 18834967 612370 Hypogonadotropic hypogonadism 5 with or without anosmia 17761590 ENSG00000107831 FGF8 18596921 612702 Hypogonadotropic hypogonadism 6 with or without anosmia 17761590 ENSG00000171766 GATM 11555793 612718 Cerebral creatine deficiency syndrome 3 10762163 ENSG00000157766 ACAN 19110214 612813 "Spondyloepimetaphyseal dysplasia, aggrecan type" 19110214 ENSG00000038295 TLL1 18830233 613087 Atrial septal defect 6 18830233 ENSG00000085998 POMGNT1 18195152 613157 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" 17878207 ENSG00000135424 ITGA7 9590299 613204 "Muscular dystrophy, congenital, due to ITGA7 deficiency" 9354797 ENSG00000081189 MEF2C 19592390 613443 Chromosome 5q14.3 deletion syndrome 19876902 ENSG00000081189 MEF2C 19592390 613443 "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" 19876902 ENSG00000052850 ALX4 19692347 613451 Frontonasal dysplasia 2 18541970 ENSG00000140521 POLG 12825077 613662 Mitochondrial DNA depletion syndrome 4B (MNGIE type) 12297582 ENSG00000055118 KCNH2 7889573 613688 Long QT syndrome 2 7842012 ENSG00000163914 RHO 2137202 613731 "Retinitis pigmentosa 4, autosomal dominant or recessive" 2564733 ENSG00000112599 GUCA1B 15452722 613827 Retinitis pigmentosa 48 15452722 ENSG00000148053 NTRK2 15494731 613886 "Obesity, hyperphagia, and developmental delay" 12796784 ENSG00000164509 IL31RA 19690585 613955 "Amyloidosis, primary localized cutaneous, 2" 19663869 ENSG00000196876 SCN8A 16236810 614306 ?Cognitive impairment with or without cerebellar ataxia 16236810 ENSG00000060237 WNK1 11498583 614492 "Pseudohypoaldosteronism, type IIC" 10869238 ENSG00000265203 RBP3 19074801 615233 Retinitis pigmentosa 66 19074801 ENSG00000138347 MYPN 18006477 615248 "Cardiomyopathy, dilated, 1KK" 18006477 ENSG00000102879 CORO1A 19097825 615401 Immunodeficiency 8 18836449 ENSG00000253729 PRKDC 19075392 615966 "Immunodeficiency 26, with or without neurologic abnormalities" 19075392 ENSG00000159899 NPR2 16384845 616255 Short stature with nonspecific skeletal abnormalities 16384845 ENSG00000103316 CRYM 12471561 616357 "Deafness, autosomal dominant 40" 12471561 ENSG00000134899 ERCC5 9096355 616570 Cerebrooculofacioskeletal syndrome 3 8818951 ENSG00000198951 NAGA 2243144 609241 "Schindler disease, type I" "Schindler, D., Bishop, D. F., Wallace, S., Wolfe, D. E., Desnick, R. J. Characterization of alpha-N-acetylgalactosaminidase deficiency: a new neurodegenerative lysosomal disease. (Abstract) Pediat. Res. 23: 333A only, 1988." ENSG00000078369 GNB1 27108799 616973 "Mental retardation, autosomal dominant 42" 25485910 ENSG00000124486 USP9X 26833328 300968 "Mental retardation, X-linked 99, syndromic, female-restricted" 24690944 ENSG00000180875 GREM2 26416033 617275 "Tooth agenesis, selective, 9" 23401279 ENSG00000152977 ZIC1 26340333 616602 Craniosynostosis 6 23438589 ENSG00000169169 CPT1C 25751282 616282 "Spastic paraplegia 73, autosomal dominant" 23973755 ENSG00000004487 KDM1A 24838796 616728 "Cleft palate, psychomotor retardation, and distinctive facial features" 23020937 ENSG00000118971 CCND2 24705253 615938 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 22228622 ENSG00000168137 SETD5 24680889 615761 "Mental retardation, autosomal dominant 23" 23020937 ENSG00000066923 STAG3 24597867 615723 Premature ovarian failure 8 22428046 ENSG00000168275 COA6 24549041 616501 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" 22277967 ENSG00000161395 PGAP3 24439110 615716 Hyperphosphatasia with mental retardation syndrome 4 22315194 ENSG00000168356 SCN11A 24207120 615552 "Episodic pain syndrome, familial, 3" 21698661 ENSG00000100311 PDGFB 23913003 615483 "Basal ganglia calcification, idiopathic, 5" 21409505 ENSG00000100241 SBF1 23749797 615284 "Charcot-Marie-Tooth disease, type 4B3" 21210780 ENSG00000124155 PIGT 23636107 615398 Multiple congenital anomalies-hypotonia-seizures syndrome 3 21493957 ENSG00000148985 PGAP2 23561846 614207 Hyperphosphatasia with mental retardation syndrome 3 21643797 ENSG00000124356 STAMBP 23542699 614261 Microcephaly-capillary malformation syndrome 21271646 ENSG00000126091 ST3GAL3 23252400 615006 "Epileptic encephalopathy, early infantile, 15" 21907012 ENSG00000164818 DNAAF5 23040496 614874 "Ciliary dyskinesia, primary, 18" 20350728 ENSG00000167131 CCDC103 22581229 614679 "Ciliary dyskinesia, primary, 17" 19720631 ENSG00000157483 MYO1E 21756023 614131 "Glomerulosclerosis, focal segmental, 6" 19005011 ENSG00000174099 MSRB3 21185009 613718 "Deafness, autosomal recessive 74" 19650862 ENSG00000100997 ABHD12 20797687 612674 "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" 19005174 ENSG00000128039 SRD5A3 20637498 612379 Congenital disorder of glycosylation type Iq 18271001 ENSG00000124172 ATP5E 20566710 614053 "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" 18953340 ENSG00000197694 SPTAN1 20493457 613477 "Epileptic encephalopathy, early infantile, 5" 18469812 ENSG00000243646 IL10RB 19890111 612567 "Inflammatory bowel disease 25, early onset, autosomal recessive" 17554300 ENSG00000179477 ALOX12B 11773004 242100 "Ichthyosis, congenital, autosomal recessive 2" 10712205 ENSG00000068366 ACSL4 11889465 300387 "Mental retardation, X-linked 63" 10854107 ENSG00000077264 PAK3 9731525 300558 "Mental retardation, X-linked " 8826460 ENSG00000169057 MECP2 10577905 300673 "Encephalopathy, neonatal severe" 9326329 ENSG00000175426 PCSK1 9207799 600955 Obesity with impaired prohormone processing 7477119 ENSG00000100473 COCH 9806553 601369 "Deafness, autosomal dominant 9" 8817345 ENSG00000132518 GUCY2D 9618177 601777 Cone-rod dystrophy 6 8554074 ENSG00000204248 COL11A2 10581026 601868 "Deafness, autosomal dominant 13" 9106521 ENSG00000121743 GJA3 10205266 601885 "Cataract 14, multiple types" 9199569 ENSG00000117400 MPL 16868251 601977 Thrombocythemia 2 15269348 ENSG00000005471 ABCB4 9419367 602347 "Cholestasis, progressive familial intrahepatic 3" 8666348 ENSG00000242866 STRC 11687802 603720 "Deafness, autosomal recessive 16" 10090914 ENSG00000157978 LDLRAP1 9409298 603813 "Hypercholesterolemia, familial, autosomal recessive" 7628519 ENSG00000003400 CASP10 10412980 603909 "Autoimmune lymphoproliferative syndrome, type II" 9028957 ENSG00000047457 CP 7820540 604290 "Hypoceruloplasminemia, hereditary" 1458725 ENSG00000164199 ADGRV1 12402266 604352 "Febrile seizures, familial, 4" 10587582 ENSG00000117400 MPL 10077649 604498 "Thrombocytopenia, congenital amegakaryocytic" 9029014 ENSG00000144381 HSPD1 11898127 605280 "Spastic paraplegia 13, autosomal dominant" 10677329 ENSG00000125414 MYH2 11114175 605637 Proximal myopathy and ophthalmoplegia 9708547 ENSG00000096696 DSP 11063735 605676 "Cardiomyopathy, dilated, with woolly hair and keratoderma" 9738775 ENSG00000004864 SLC25A13 11281457 605814 Citrullinemia type II neonatal-onset 10369257 ENSG00000138449 SLC40A1 11431687 606069 "Hemochromatosis, type 4" 10471458 ENSG00000179148 ALOXE3 11773004 606545 "Ichthyosis, congenital, autosomal recessive 3" 10712205 ENSG00000148672 GLUD1 9571255 606762 Hyperinsulinism-hyperammonemia syndrome 8769351 ENSG00000163347 CLDN1 15521008 607626 "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" 12164927 ENSG00000203883 SOX18 12740761 607823 Hypotrichosis-lymphedema-telangiectasia syndrome 11701398 ENSG00000162676 GFI1 12778173 607847 "Neutropenia, nonimmune chronic idiopathic, of adults" 11807637 ENSG00000151849 CENPJ 15793586 608393 "Microcephaly 6, primary, autosomal recessive" 12843329 ENSG00000148516 ZEB1 16252232 609141 "Corneal dystrophy, posterior polymorphous, 3" 12654361 ENSG00000183765 CHEK2 11479205 609265 Li-Fraumeni syndrome 10617473 ENSG00000130714 POMT1 15792865 609308 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" 14678799 ENSG00000106003 LFNG 16385447 609813 "Spondylocostal dysostosis 3, autosomal recessive" 15122512 ENSG00000197579 TOPORS 17924349 609923 Retinitis pigmentosa 31 16189705 ENSG00000152939 MARVELD2 17186462 610153 "Deafness, autosomal recessive 49" 15538632 ENSG00000181090 EHMT1 16826528 610253 Kleefstra syndrome 15258833 ENSG00000196431 CRYBA4 16960806 610425 Cataract 23 15452067 ENSG00000104723 TUSC3 18452889 611093 "Mental retardation, autosomal recessive 7" 17120046 ENSG00000113327 GABRG2 11326274 611277 "Epilepsy, generalized, with febrile seizures plus, type 3" 9894880 ENSG00000113327 GABRG2 11326274 611277 "Febrile seizures, familial, 8" 9894880 ENSG00000184154 LRTOMT 18953341 611451 "Deafness, autosomal recessive 63" 17166180 ENSG00000187498 COL4A1 18160688 611773 "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" 15882279 ENSG00000163961 RNF168 19203578 611943 RIDDLE syndrome 17940005 ENSG00000120948 TARDBP 18309045 612069 "Amyotrophic lateral sclerosis 10, with or without FTD" 17036243 ENSG00000085063 CD59 1382994 612300 "Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, " 1699124 ENSG00000130005 GAMT 8651275 612736 Cerebral creatine deficiency syndrome 2 7808840 ENSG00000109132 PHOX2B 15024693 613013 Neuroblastoma with Hirschsprung disease 11747263 ENSG00000106692 FKTN 19299310 613152 "Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4" 17878207 ENSG00000157764 BRAF 19206169 613707 LEOPARD syndrome 3 18042262 ENSG00000254636 ARMS2 16174643 613778 "Macular degeneration, age-related, 8" 12900797 ENSG00000042781 USH2A 12427073 613809 Retinitis pigmentosa 39 10775529 ENSG00000100292 HMOX1 9884342 614034 Heme oxygenase-1 deficiency 9380736 ENSG00000166863 TAC3 19079066 614839 Hypogonadotropic hypogonadism 10 with or without anosmia 17761590 ENSG00000169836 TACR3 19079066 614840 Hypogonadotropic hypogonadism 11 with or without anosmia 17761590 ENSG00000161594 KLHL10 17047026 615081 Spermatogenic failure 11 15136734 ENSG00000182512 GLRX5 17485548 616860 "Anemia, sideroblastic, 3, pyridoxine-refractory" 16110529 ENSG00000006611 USH1C 10973247 602092 "Deafness, autosomal recessive 18A" "Jain, P. K., Lalwani, A. K., Li, X. C., McDuffie, T., Deshmukh, D., Verma, I. C., Wilcox, E. R. A gene for recessive nonsyndromic sensorineural hearing impairment (DFNB18) maps to the chromosomal region containing the Usher syndrome type 1C gene. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A280 only, 1997." ENSG00000068078 FGFR3 10053006 616482 SADDAN "Francomano, C. A., Bellus, G. A., Szabo, J., McIntosh, I., Dorst, J., Lee, R., Hurko, O., Fraley, A. E., Bamshad, M. J. A new skeletal dysplasia with severe tibial bowing, profound developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in fibroblast growth factor receptor 3 (FGFR3). (Abstract) Am. J. Hum. Genet. 59 (suppl.): A25 only, 1996." ENSG00000109927 TECTA 9590290 601543 "Deafness, autosomal dominant 8/12" "Kirshhofer, K., Hoover, D. M., Kenyon, J. B., Franz, P., Weipoltshammer, K., Wachtler, F., Kimberling, W. J. Localisation of a gene responsible for an autosomal dominant non-syndromic sensorineural hearing loss to chromosome 15. Molecular Biology of Hearing and Deafness, Bethesda, Md. 1995." ENSG00000103197 TSC2 7581393 613254 Tuberous sclerosis-2 "Kandt, R. S., Haines, J. L., Smith, M., Northrup, H., Gardner, R. J. M., Short, M. P., Dumars, K., Roach, E. S., Steingold, S., Wall, S., Blanton, S. H., Flodman, P., Kwiatkowski, D. J., Jewell, A., Weber, J. L., Roses, A. D., Pericak-Vance, M. A. Linkage of a major gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A4, 1992." ENSG00000004939 SLC4A1 8282779 612653 "Spherocytosis, type 4" "Prchal, J. T., Guan, Y., Jarolim, P., Palek, J., Showe, L., Bertoli, L. Hereditary spherocytosis in a large family is linked with the band 3 gene and not with alpha-spectrin, beta-spectrin or ankyrin. (Abstract) Blood 78 (suppl.): 81a, 1991." ENSG00000114573 ATP6V1A 28065471 617403 "Cutis laxa, autosomal recessive, type IID" 24459010 ENSG00000080572 PIH1D3 28041644 300991 "Ciliary dyskinesia, primary, 36, X-linked" 24421334 ENSG00000125780 TGM3 27866708 617251 Uncombable hair syndrome 2 24183230 ENSG00000110436 SLC1A2 27476654 617105 "Epileptic encephalopathy, early infantile, 41" 23934111 ENSG00000141837 CACNA1A 27476654 617106 "Epileptic encephalopathy, early infantile, 42" 23934111 ENSG00000155980 KIF5A 27463701 617235 "Myoclonus, intractable, neonatal" 24215330 ENSG00000142599 RERE 27087320 616975 "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" 23451234 ENSG00000114738 MAPKAPK3 26744326 617111 "Macular dystrophy, patterned, 3" 23370609 ENSG00000138821 SLC39A8 26637978 616721 "Congenital disorder of glycosylation, type Iin" 22563477 ENSG00000149256 TENM4 26188006 616736 "Tremor, hereditary essential, 5" 22915103 ENSG00000100578 KIAA0586 26166481 616546 Short-rib thoracic dysplasia 14 with polydactyly 22791528 ENSG00000213123 TCTEX1D2 26044572 617405 Short-rib thoracic dysplasia 17 with or without polydactyly 22791528 ENSG00000198793 MTOR 25851998 616638 Smith-Kingsmore syndrome 22729223 ENSG00000167113 COQ4 25658047 616276 "Coenzyme Q10 deficiency, primary, 7" 22368301 ENSG00000143442 POGZ 25533962 616364 White-Sutton syndrome 22495311 ENSG00000198824 CHAMP1 25533962 616579 "Mental retardation, autosomal dominant 40" 23020937 ENSG00000137513 NARS2 25385316 616239 Combined oxidative phosphorylation deficiency 24 22237560 ENSG00000070614 NDST1 25125150 616116 "Mental retardation, autosomal recessive 46" 21937992 ENSG00000162065 TBC1D24 24387994 614617 "Deafness , autosomal recessive 86" 22211675 ENSG00000111799 COL12A1 24334604 616470 Ullrich congenital muscular dystrophy 2 21670218 ENSG00000111799 COL12A1 24334604 616471 Bethlem myopathy 2 21670218 ENSG00000182512 GLRX5 24334290 616859 "Spasticity, childhood-onset, with hyperglycinemia" 21471552 ENSG00000125875 TBC1D20 24239381 615663 Warburg micro syndrome 4 20512159 ENSG00000186827 TNFRSF4 23897980 615593 Immunodeficiency 16 20156905 ENSG00000062822 POLD1 23770608 615381 "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" 20631028 ENSG00000065427 KARS 23768514 613916 "Deafness, autosomal recessive 89" 21181198 ENSG00000131652 THOC6 23621916 613680 Beaulieu-Boycott-Innes syndrome 20503307 ENSG00000135486 HNRNPA1 23455423 615424 Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3 20116073 ENSG00000196998 WDR45 23176820 300894 Neurodegeneration with brain iron accumulation 5 18981035 ENSG00000136908 DPM2 23109149 615042 "Congenital disorder of glycosylation, type Iu" 19901254 ENSG00000117020 AKT3 22729224 615937 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 19353582 ENSG00000204351 SKIV2L 22444670 614602 Trichohepatoenteric syndrome 2 18982349 ENSG00000197943 PLCG2 22236196 614468 Familial cold autoinflammatory syndrome 3 19910034 ENSG00000115657 ABCB6 22226084 614497 "Microphthalmia, isolated, with coloboma 7" 19504436 ENSG00000013503 POLR3B 22036171 614381 "Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" 18851904 ENSG00000163687 DNASE1L3 22019780 614420 Systemic lupus erythematosus 16 18204446 ENSG00000164946 FREM1 21931569 614485 Trigonocephaly 2 18452192 ENSG00000101997 CCDC22 21826058 300963 Ritscher-Schinzel syndrome 2 19377476 ENSG00000112365 ZBTB24 21596365 614069 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 17893117 ENSG00000177646 ACAD9 21057504 611126 Mitochondrial complex I deficiency due to ACAD9 deficiency 17564966 ENSG00000065534 MYLK 21055718 613780 "Aortic aneurysm, familial thoracic 7" 17666408 ENSG00000112320 SOBP 21035105 613671 "Mental retardation, anterior maxillary protrusion, and strabismus" 17618476 ENSG00000128039 SRD5A3 20700148 612713 Kahrizi syndrome 18781183 ENSG00000167632 TRAPPC9 20004763 613192 "Mental retardation, autosomal recessive 13" 17120046 ENSG00000144028 SNRNP200 19878916 610359 Retinitis pigmentosa 33 16612614 ENSG00000133392 MYH11 14722581 132900 "Aortic aneurysm, familial thoracic 4" 11249915 ENSG00000151348 EXT2 8782816 133701 "Exostoses, multiple, type 2" 8317501 ENSG00000169554 ZEB2 11279515 235730 Mowat-Wilson syndrome 9719364 ENSG00000102001 CACNA1F 9662399 300071 "Night blindness, congenital stationary (incomplete), 2A, X-linked" 7633454 ENSG00000229807 XIST 9354806 300087 "X-inactivation, familial skewed" 8198142 ENSG00000156298 TSPAN7 12070254 300210 "Mental retardation, X-linked 58" 10449641 ENSG00000165704 HPRT1 6020292 300322 Lesch-Nyhan syndrome 14142409 ENSG00000182220 ATP6AP2 15746149 300423 "Mental retardation, X-linked, syndromic, Hedera type" 11782983 ENSG00000158352 SHROOM4 16249884 300434 Stocco dos Santos X-linked mental retardation syndrome 12673656 ENSG00000171365 CLCN5 8559248 300554 Hypophosphatemic rickets 7915957 ENSG00000137474 MYO7A 9171833 600060 "Deafness, autosomal recessive 2" 7951250 ENSG00000092758 COL9A3 10090888 600969 "Epiphyseal dysplasia, multiple, 3, with or without myopathy " 8528240 ENSG00000115155 OTOF 10192385 601071 "Auditory neuropathy, autosomal recessive, 1" 8789454 ENSG00000115155 OTOF 10192385 601071 "Deafness, autosomal recessive 9" 8789454 ENSG00000144452 ABCA12 10094194 601277 "Ichthyosis, congenital, autosomal recessive 4A" 8845852 ENSG00000114378 HYAL1 10339581 601492 Mucopolysaccharidosis type IX 8793927 ENSG00000165474 GJB2 9139825 601544 "Deafness, autosomal dominant 3A" 7881423 ENSG00000109101 FOXN1 10206641 601705 "T-cell immunodeficiency, congenital alopecia, and nail dystrophy " 8911612 ENSG00000198691 ABCA4 9425888 601718 Retinitis pigmentosa 19 8556816 ENSG00000173991 TCAP 10655062 601954 "Muscular dystrophy, limb-girdle, type 2G" 9245996 ENSG00000169344 UMOD 12471200 603860 Medullary cystic kidney disease 2 10330352 ENSG00000114270 COL7A1 9182828 604129 Epidermolysis bullosa pruriginosa 8204470 ENSG00000155657 TTN 11788824 604145 "Cardiomyopathy, dilated, 1G" 10051295 ENSG00000073282 TP63 10535733 604292 "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3" 8737655 ENSG00000113971 NPHP3 12872122 604387 Nephronophthisis 3 10631142 ENSG00000184009 ACTG1 13680526 604717 "Deafness, autosomal dominant 20/26" 10662538 ENSG00000111732 AICDA 11007475 605258 "Immunodeficiency with hyper-IgM, type 2" 9058789 ENSG00000126583 PRKCG 12644968 605361 Spinocerebellar ataxia 14 10939565 ENSG00000196586 MYO6 15060111 606346 "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" 11468689 ENSG00000170624 SGCD 10974018 606685 "Cardiomyopathy, dilated, 1L" 9391120 ENSG00000181027 FKRP 11592034 607155 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5" 9577386 ENSG00000114270 COL7A1 9856844 607523 "Toenail dystrophy, isolated" 7577595 ENSG00000100934 SEC23A 16980979 607812 Craniolenticulosutural dysplasia 12677423 ENSG00000132024 CC2D1A 16033914 608443 "Mental retardation, autosomal recessive 3" 14569116 ENSG00000138363 ATIC 15114530 608688 AICA-ribosiduria due to ATIC deficiency 11323713 ENSG00000108439 PNPO 15772097 610090 Pyridoxamine 5'-phosphate oxidase deficiency 12200739 ENSG00000160789 LMNA 18611980 610140 "Heart-hand syndrome, Slovenian type" 15996213 ENSG00000166033 HTRA1 17053108 610149 "Macular degeneration, age-related, 7" 12900797 ENSG00000166033 HTRA1 17053108 610149 "Macular degeneration, age-related, neovascular type" 12900797 ENSG00000148384 INPP5E 19668215 610156 "Mental retardation, truncal obesity, retinal dystrophy, and micropenis" 16493448 ENSG00000107249 GLIS3 16715098 610199 "Diabetes mellitus, neonatal, with congenital hypothyroidism" 12966531 ENSG00000184381 PLA2G6 16783378 610217 Neurodegeneration with brain iron accumulation 2B 12843330 ENSG00000164073 MFSD8 17564970 610951 "Ceroid lipofuscinosis, neuronal, 7" 15074367 ENSG00000187736 NHEJ1 16439204 611291 "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" 12604777 ENSG00000225190 PLEKHM1 17404618 611497 "Osteopetrosis, autosomal recessive 6" 14969387 ENSG00000197746 PSAP 1371116 611721 Combined SAP deficiency 2514102 ENSG00000139174 PRICKLE1 18976727 612437 "Epilepsy, progressive myoclonic 1B" 15634728 ENSG00000116096 SPR 11443547 612716 "Dystonia, dopa-responsive, due to sepiapterin reductase deficiency" 9700606 ENSG00000143278 F13B 8324218 613235 Factor XIIIB deficiency 2334637 ENSG00000106366 SERPINE1 1435917 613329 Plasminogen activator inhibitor-1 deficiency 2496147 ENSG00000180509 KCNE1 10973849 613695 Long QT syndrome 5 9354802 ENSG00000143801 PSEN2 17186461 613697 "Cardiomyopathy, dilated, 1V" 14623725 ENSG00000100365 NCF4 19692703 613960 "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III" 16880254 ENSG00000254647 INS 381941 616214 Hyperproinsulinemia 815812 ENSG00000108556 CHRNE 8755487 616324 "Myasthenic syndrome, congenital, 4B, fast-channel" 8232384 ENSG00000008196 TFAP2B 18752453 617035 Patent ductus arteriosus 2 15684060 ENSG00000130203 APOE 7175379 617347 "Hyperlipoproteinemia, type III" 759055 ENSG00000132669 RIN2 19631308 613075 "Macrocephaly, alopecia, cutis laxa, and scoliosis" "Verloes, A., Benmansour, A., Mortier, G., Pierard, G. E., Le Merrer, M. A new recessive connective tissue disorder with fleshy swelling of lips, lid and cheeks, macrocephaly, hyperextensible skin and severe scoliosis. (Abstract) 55th Annual Meeting, American Society of Human Genetics, Salt Lake City, Utah , 2005. P. 140." ENSG00000111537 IFNG 15327519 609135 Aplastic anemia "Young, N. S. The etiology of acquired aplastic anemia. Rev. Clin. Exp. Hemat. 4: 236-239, 2000." ENSG00000074047 GLI2 14581620 610829 Holoprosencephaly 9 "Guion-Almeida, M. L., Zechi-Ceidi, R. M., Richieri-Costa, A. Alobar holoprosencephaly sequence, anophthalmia, preauricular skin tags, and pulmonary hypoplasia: a previously undescribed condition. Braz. J. Dysmorph. Speech Hear. Disord. 3: 19-22, 1999." ENSG00000165462 PHOX2A 11600883 602078 "Fibrosis of extraocular muscles, congenital, 2" "Engle, E. C., Wang, S. M., Zwaan, J. T., Mullaney, P. B., Jabak, M. H., Beggs, A. H. Linkage and homozygosity mapping of a variant of congenital fibrosis of the extraocular muscles to chromosome 11q13.1. (Abstract) Am. J. Hum. Genet. 61 (suppl.): A30 only, 1997." ENSG00000143549 TPM3 7704029 609284 CAP myopathy 1 "Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumbergs, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A. Assignment of nemaline myopathy (MIM 161800, NEM1) to chromosome 1. (Abstract) Cytogenet. Cell Genet. 58: 1858, 1991." ENSG00000143549 TPM3 7704029 609284 "Nemaline myopathy 1, autosomal dominant or recessive" "Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumbergs, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A. Assignment of nemaline myopathy (MIM 161800, NEM1) to chromosome 1. (Abstract) Cytogenet. Cell Genet. 58: 1858, 1991." ENSG00000125505 MBOAT7 27616480 617188 "Mental retardation, autosomal recessive 57" 23097495 ENSG00000119866 BCL11A 27453576 617101 Dias-Logan syndrome 22542183 ENSG00000181656 GPR88 27123486 616939 "Chorea, childhood-onset, with psychomotor retardation" 23064379 ENSG00000154310 TNIK 27106596 617028 "Mental retardation, autosomal recessive 54" 23035106 ENSG00000012504 NR1H4 26888176 617049 "Cholestasis, progressive familial intrahepatic, 5" 21633855 ENSG00000101052 IFT52 26880018 617102 Short-rib thoracic dysplasia 22791528 ENSG00000113721 PDGFRB 25454926 616592 Kosaki overgrowth syndrome 21307714 ENSG00000106976 DNM1 25262651 616346 "Epileptic encephalopathy, early infantile, 31" 20700442 ENSG00000152217 SETBP1 25217958 616078 "Mental retardation, autosomal dominant 29" 21037274 ENSG00000081148 IMPG2 25085631 616152 "Macular dystrophy, vitelliform, 5" 20673862 ENSG00000108375 RNF43 24512911 617108 Sessile serrated polyposis cancer syndrome 20584785 ENSG00000163389 POGLUT1 24387993 615696 Dowling-Degos disease 4 20664185 ENSG00000119333 WDR34 24183449 615633 Short-rib thoracic dysplasia 11 with or without polydactyly 19610081 ENSG00000179950 PUF60 24140112 615583 Verheij syndrome 19464398 ENSG00000103489 XYLT1 23982343 615777 Desbuquois dysplasia 2 21037275 ENSG00000198198 SZT2 23932106 615476 "Epileptic encephalopathy, early infantile, 18" 19624305 ENSG00000131943 C19orf12 23857908 615043 "Spastic paraplegia 43, autosomal recessive" 20039086 ENSG00000173540 GMPPB 23768512 615351 "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" 19901254 ENSG00000258366 RTEL1 23453664 615190 "Dyskeratosis congenita, autosomal dominant 4" 19461895 ENSG00000258366 RTEL1 23453664 615190 "Dyskeratosis congenita, autosomal recessive 5" 19461895 ENSG00000113721 PDGFRB 23255827 615007 "Basal ganglia calcification, idiopathic, 4" 19506901 ENSG00000163644 PPM1K 23086801 615135 "Maple syrup urine disease, mild variant" 19411760 ENSG00000155906 RMND1 23022099 614922 Combined oxidative phosphorylation deficiency 11 18835491 ENSG00000145794 MEGF10 22101682 614399 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" 17236770 ENSG00000145794 MEGF10 22101682 614399 "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" 17236770 ENSG00000118402 ELOVL4 22100072 614457 "Ichthyosis, spastic quadriplegia, and mental retardation" 17208947 ENSG00000136720 HS6ST1 21700882 614880 Hypogonadotropic hypogonadism 15 with or without anosmia 17761590 ENSG00000140968 IRF8 21524210 614893 "Immunodeficiency 32A, mycobacteriosis, autosomal dominant" 17616516 ENSG00000118965 WDR35 21473986 614091 Short-rib thoracic dysplasia 7 with or without polydactyly 17935248 ENSG00000237693 IRGM 21278745 612278 Inflammatory bowel disease (Crohn disease) 19 17447842 ENSG00000165168 CYBB 21278736 300645 "Immunodeficiency 34, mycobacteriosis, X-linked" 17293536 ENSG00000132517 SLC52A1 21089064 615026 Riboflavin deficiency 17689999 ENSG00000133703 KRAS 21079152 614470 RAS-associated autoimmune leukoproliferative disorder 17517660 ENSG00000120948 TARDBP 20697052 612069 "Frontotemporal lobar degeneration, TARDBP-related" 17036243 ENSG00000126934 MAP2K2 20358587 615280 Cardiofaciocutaneous syndrome 4 16439621 ENSG00000169057 MECP2 10986043 300055 "Mental retardation, X-linked, syndromic 13" 8651288 ENSG00000129675 ARHGEF6 11017088 300436 "Mental retardation, X-linked 46" 8737982 ENSG00000072506 HSD17B10 12696021 300438 17-beta-hydroxysteroid dehydrogenase X deficiency 10521307 ENSG00000018510 AGPS 9553082 600121 "Rhizomelic chondrodysplasia punctata, type 3" 7807941 ENSG00000112041 TULP1 9462751 600132 Retinitis pigmentosa 14 7987322 ENSG00000080815 PSEN1 9641683 600274 "Dementia, frontotemporal" 7977375 ENSG00000186868 MAPT 9641683 600274 "Dementia, frontotemporal, with or without parkinsonism" 7977375 ENSG00000214160 ALG3 10581255 601110 "Congenital disorder of glycosylation, type Id" 8552211 ENSG00000211899 IGHM 8890099 601495 Agammaglobulinemia 1 1560108 ENSG00000092621 PHGDH 11055895 601815 Phosphoglycerate dehydrogenase deficiency 8758134 ENSG00000074582 BCS1L 11977179 603358 GRACILE syndrome 9482441 ENSG00000164414 SLC35A1 15576474 603585 "Congenital disorder of glycosylation, type Iif" 11157507 ENSG00000169174 PCSK9 12730697 603776 "Hypercholesterolemia, familial, 3" 10205269 ENSG00000118137 APOA1 10431236 604091 Hypoalphalipoproteinemia 7627690 ENSG00000165029 ABCA1 10431236 604091 "HDL deficiency, type 2" 7627690 ENSG00000166147 FBN1 8406497 604308 MASS syndrome 2739055 ENSG00000126778 SIX1 15141091 605192 "Deafness, autosomal dominant 23" 10777717 ENSG00000134240 HMGCS2 11228257 605911 HMG-CoA synthase-2 deficiency 9337379 ENSG00000075624 ACTB 16685646 607371 "Dystonia, juvenile-onset" 12325076 ENSG00000113851 CRBN 15557513 607417 "Mental retardation, autosomal recessive 2" 10932263 ENSG00000152492 CCDC50 17503326 607453 "Deafness, autosomal dominant 44" 12483295 ENSG00000167397 VKORC1 14765194 607473 "Vitamin K-dependent clotting factors, combined deficiency of, 2" 11154138 ENSG00000065361 ERBB3 17701904 607598 Lethal congenital contractural syndrome 2 12548738 ENSG00000162337 LRP5 12579474 607636 "van Buchem disease, type 2" 10434540 ENSG00000126778 SIX1 15141091 608389 Branchiootic syndrome 3 10762556 ENSG00000135218 CD36 7686693 608404 Platelet glycoprotein IV deficiency 2617957 ENSG00000081237 PTPRC 11145714 608971 "Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" 9068311 ENSG00000084754 HADHA 7738175 609015 Trifunctional protein deficiency 2019931 ENSG00000152952 PLOD2 12881513 609220 Bruck syndrome 2 9927692 ENSG00000151729 SLC25A4 10926541 609283 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" 8644740 ENSG00000165730 STOX1 15806103 609404 Preeclampsia/eclampsia 4 11781687 ENSG00000156113 KCNMA1 15937479 609446 Generalized epilepsy and paroxysmal dyskinesia 11520321 ENSG00000128591 FLNC 15929027 609524 "Myopathy, myofibrillar, 5" 11222786 ENSG00000055118 KCNH2 14676148 609620 Short QT syndrome 1 11173780 ENSG00000134755 DSC2 17033975 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair 12392835 ENSG00000170275 CRTAP 17055431 610682 "Osteogenesis imperfecta, type VII" 12110406 ENSG00000151498 ACAD8 12359132 611283 Isobutyryl-CoA dehydrogenase deficiency 9889013 ENSG00000164690 SHH 12503095 611638 Microphthalmia with coloboma 5 10556296 ENSG00000172548 NIPAL4 15317751 612281 "Ichthyosis, congenital, autosomal recessive 6" 10712205 ENSG00000131183 SLC34A1 12324554 612286 "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" 9560283 ENSG00000141655 TNFRSF11A 18606301 612301 "Osteopetrosis, autosomal recessive 7" 15231021 ENSG00000099937 SERPIND1 2647747 612356 Thrombophilia due to heparin cofactor II deficiency 2863444 ENSG00000115840 SLC25A12 19641205 612949 "Epileptic encephalopathy, early infantile, 39" 15987682 ENSG00000130226 DPP6 19285295 612956 "Ventricular fibrillation, paroxysmal familial, 2" 15890703 ENSG00000178538 CA8 19461874 613227 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 16118194 ENSG00000103051 COG4 19494034 613489 "Congenital disorder of glycosylation, type Iij" 16356446 ENSG00000117298 ECE1 9915973 613870 "Hirschsprung disease, cardiac defects, and autonomic dysfunction" 8530372 ENSG00000244734 HBB 287080 613985 "Thalassemias, beta-" 49057 ENSG00000133063 CHIT1 9748235 614122 Chitotriosidase deficiency 8132768 ENSG00000186197 EDARADD 11780064 614941 "Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" 9245989 ENSG00000171608 PIK3CD 16984281 615513 Immunodeficiency 14 12130661 ENSG00000113569 NUP155 19070573 615770 Atrial fibrillation 15 15596564 ENSG00000117593 DARS2 17384640 611105 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation "van der Knaap, M. S., van der Voorn, P., Barkhof, F., Van Coster, R., Krageloh-Mann, I., Feigenbaum, A., Blaser, S., Vles, J. S. H., Rieckmann, P., Pouwels, P. J. W. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann. Neurol. 53: 252-258, 2002." ENSG00000168000 BSCL2 11479539 269700 "Lipodystrophy, congenital generalized, type 2" "Seip, M., Trygstad, O. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediat. Suppl. 413: 2-28, 1996." ENSG00000158683 PKD1L1 27616478 617205 "Heterotaxy, visceral, 8, autosomal" 21307093 ENSG00000136710 CCDC115 26833332 616828 "Congenital disorder of glycosylation, type Iio" 21362473 ENSG00000119638 NEK9 26633546 614262 "Arthrogryposis, Perthes disease, and upward gaze palsy" 21271645 ENSG00000070831 CDC42 26386261 616737 Takenouchi-Kosaki syndrome 20139097 ENSG00000163702 IL17RC 25918342 616445 "Candidiasis, familial, 9" 20554964 ENSG00000177301 KCNA2 25477152 616366 "Epileptic encephalopathy, early infantile, 32" 20696761 ENSG00000177565 TBL1XR1 25102098 616944 "Mental retardation, autosomal dominant 41 " 19760657 ENSG00000072195 SPEG 25087613 615959 Centronuclear myopathy 5 19118250 ENSG00000006042 TMEM98 24852644 615972 Nanophthalmos 4 19452014 ENSG00000223802 CERS1 24782409 616230 "Epilepsy, progressive myoclonic, 8" 19243074 ENSG00000124486 USP9X 24607389 300919 "Mental retardation, X-linked 99" 19377476 ENSG00000141161 UNC45B 24549050 616279 Cataract 43 19182255 ENSG00000076685 NT5C2 24482476 613162 "Spastic paraplegia 45, autosomal recessive" 19415352 ENSG00000186153 WWOX 24456803 616211 "Epileptic encephalopathy, early infantile, 28" 19500159 ENSG00000140691 ARMC5 24283224 615954 ACTH-independent macronodular adrenal hyperplasia 2 19018784 ENSG00000105996 HOXA2 23775976 612290 Microtia with or without hearing impairment (AD) 18394579 ENSG00000142611 PRDM16 23768516 615373 "Cardiomyopathy, dilated, 1LL" 18506004 ENSG00000142611 PRDM16 23768516 615373 Left ventricular noncompaction 8 18506004 ENSG00000141522 ARHGDIA 23434736 615244 "Nephrotic syndrome, type 8" 19029984 ENSG00000132932 ATP8A2 22892528 615268 "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" 18326629 ENSG00000176842 IRX5 22581230 611174 Hamamy syndrome 17230486 ENSG00000170498 KISS1 22335740 614842 Hypogonadotropic hypogonadism 13 with or without anosmia 17761590 ENSG00000138347 MYPN 22286171 615248 "Cardiomyopathy, familial restrictive, 4" 18006477 ENSG00000156110 ADK 21963049 614300 Hypermethioninemia due to adenosine kinase deficiency 17120046 ENSG00000126091 ST3GAL3 21907012 611090 "Mental retardation, autosomal recessive 12" 17120046 ENSG00000215417 MIR17HG 21892160 614326 Feingold syndrome 2 16906565 ENSG00000167716 WDR81 21885617 610185 "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" 16484061 ENSG00000134049 IER3IP1 21835305 614231 "Microcephaly, epilepsy, and diabetes syndrome" 16972080 ENSG00000130294 KIF1A 21487076 610357 Spastic paraplegia 16434418 ENSG00000182173 TSEN54 21368912 610204 Pontocerebellar hypoplasia type 5 16470708 ENSG00000177663 IL17RA 21350122 613953 Immunodeficiency 51 16670328 ENSG00000147475 ERLIN2 21330303 611225 "Spastic paraplegia 18, autosomal recessive" 16636240 ENSG00000166257 SCN3B 20558140 613120 "Atrial fibrillation, familial" 15655131 ENSG00000141385 AFG3L2 20208537 610246 Spinocerebellar ataxia 28 16251216 ENSG00000094631 HDAC6 20181727 300863 "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" 16001442 ENSG00000106025 TSPAN12 20159111 613310 Exudative vitreoretinopathy 5 15665352 ENSG00000213398 LCAT 6428166 136120 Fish-eye disease 91022 ENSG00000122971 ACADS 2808706 201470 "Acyl-CoA dehydrogenase, short-chain, deficiency of" 6493275 ENSG00000178537 SLC25A20 9399886 212138 Carnitine-acylcarnitine translocase deficiency 1598097 ENSG00000135636 DYSF 9731527 253601 "Muscular dystrophy, limb-girdle, type 2B" 8320700 ENSG00000115085 ZAP70 8124727 269840 Immunodeficiency 48 2511270 ENSG00000120889 TNFRSF10B 9721851 275355 "Squamous cell carcinoma, head and neck" 8327510 ENSG00000147202 DIAPH2 9497258 300511 Premature ovarian failure 8406446 ENSG00000126012 KDM5C 15586325 300534 "Mental retardation, X-linked, syndromic, Claes-Jensen type" 10982473 ENSG00000102119 EMD 7894480 310300 "Emery-Dreifuss muscular dystrophy 1, X-linked" 2685312 ENSG00000171365 CLCN5 8559248 310468 "Nephrolithiasis, type I" 1908057 ENSG00000147168 IL2RG 7883965 312863 "Combined immunodeficiency, X-linked, moderate" 2243135 ENSG00000117013 KCNQ4 10025409 600101 "Deafness, autosomal dominant 2A" 8035838 ENSG00000160183 TMPRSS3 11137999 601072 "Deafness, autosomal recessive 8/10" 8789456 ENSG00000112319 EYA4 11159937 601316 Deafnessautosomal dominant 10 8776603 ENSG00000107736 CDH23 11090341 601386 "Deafness, autosomal recessive 12" 8817348 ENSG00000118194 TNNT2 11106718 601494 "Cardiomyopathy, dilated, 1D" 8825069 ENSG00000118194 TNNT2 11106718 601494 Left ventricular noncompaction 6 8825069 ENSG00000128973 CLN6 11791207 601780 "Ceroid lipofuscinosis, neuronal, 6" 9097964 ENSG00000128973 CLN6 11727201 601780 "Ceroid lipofuscinosis, neuronal, 6" 9097964 ENSG00000171867 PRNP 10581230 603218 Huntington disease-like 1 8178825 ENSG00000136280 CCM2 14624391 603284 Cerebral cavernous malformations-2 9811928 ENSG00000079841 RIMS1 12659814 603649 Cone-rod dystrophy 7 9634506 ENSG00000100427 MLC1 11254442 604004 Megalencephalic leukoencephalopathy with subcortical cysts 8841668 ENSG00000060069 CTDP1 14517542 604168 "Congenital cataracts, facial dysmorphism, and neuropathy" 9638664 ENSG00000171953 ATPAF2 14757859 604273 "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" 10484764 ENSG00000136861 CDK5RAP2 15793586 604804 "Microcephaly 3, primary, autosomal recessive" 10677332 ENSG00000251322 SHANK3 16284256 606232 Phelan-McDermid syndrome 11391650 ENSG00000117118 SDHB 17804857 606864 Paraganglioma and gastric stromal sarcoma 11857563 ENSG00000143252 SDHC 17804857 606864 Paraganglioma and gastric stromal sarcoma 11857563 ENSG00000204370 SDHD 17804857 606864 Paraganglioma and gastric stromal sarcoma 11857563 ENSG00000198001 IRAK4 12637671 607676 IRAK4 deficiency 9789052 ENSG00000104728 ARHGEF10 14508709 608236 "Slowed nerve conduction velocity, AD" 9678704 ENSG00000119715 ESRRB 18179891 608565 "Deafness, autosomal recessive 35" 12529709 ENSG00000153574 RPIA 14988808 608611 Ribose 5-phosphate isomerase deficiency 10589548 ENSG00000138029 HADHB 8651282 609015 Trifunctional protein deficiency 2019931 ENSG00000084754 HADHA 7811722 609016 "Fatty liver, acute, of pregnancy" 2567831 ENSG00000084754 HADHA 7811722 609016 LCHAD deficiency 2567831 ENSG00000168267 PTF1A 15543146 609069 Pancreatic and cerebellar agenesis 10507728 ENSG00000043355 ZIC2 9771712 609637 Holoprosencephaly 5 8418661 ENSG00000182372 CLN8 10508524 610003 "Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant" 8014963 ENSG00000134250 NOTCH2 16773578 610205 Alagille syndrome 2 11171333 ENSG00000214274 ANG 15557516 611895 Amyotrophic lateral sclerosis 9 10371543 ENSG00000163050 COQ8A 18319074 612016 "Coenzyme Q10 deficiency, primary, 4" 12682339 ENSG00000163050 COQ8A 18319072 612016 "Coenzyme Q10 deficiency, primary, 4" 12682339 ENSG00000018236 CNTN1 19026398 612540 "Myopathy, congenital, Compton-North" 12899872 ENSG00000136931 NR5A1 10369247 612965 46XY sex reversal 3 8187173 ENSG00000199158 MIR96 19363479 613074 "Deafness, autosomal dominant 50" 14757864 ENSG00000136573 BLK 19667185 613375 "Maturity-onset diabetes of the young, type 11" 15111509 ENSG00000012174 MBTPS2 22931912 300918 "Olmsted syndrome, X-linked" 17367233 ENSG00000100024 UPB1 15385443 613161 Beta-ureidopropionase deficiency "Assmann, B., Gohlich-Ratmann, G., Brautigam, C., Wagner, L., Moolenaar, S., Engelke, U., Wevers, R., Voit, T., Hoffmann, G. F. Presumptive ureidopropionase deficiency as a new defect in pyrimidine catabolism found with in vitro H-NMR spectroscopy. J. Inherit. Metab. Dis. 21 (suppl. 2): 1 only, 1998." ENSG00000075643 MOCOS 11302742 603592 "Xanthinuria, type II" "Simmonds, H. A., Reiter, S., Nishino, T. Hereditary xanthinuria. In: Scriver, C. R.; Beaudet, A. L.; Sly, W. S.; Valle, D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. II New York: McGraw-Hill 1995. P. 1781." ENSG00000198951 NAGA 8040340 609242 Kanzaki disease "Kanzaki, T., Yokota, M., Mizuno, N. Clinical and ultrastructural studies of novel angiokeratoma corporis diffusum. (Abstract) Clin. Res. 36: 377A only, 1988." ENSG00000166228 PCBD1 8352282 264070 "Hyperphenylalaninemia, BH4-deficient, D" "Dhondt, J.-L., Forzy, G., Hayte, J. M., Guibaud, P., Rolland, M. O., Dorche, C., Andre, S. Impaired biopterin synthesis in a patient with mild hyperphenylalaninemia: a new variant? In: Curtius, H.-C.; Blau, N.; Levin, R. A.: Unconjugated Pterins and Related Biogenic Amines. Berlin: de Gruyter (pub.) 1987. Pp. 257-263." ENSG00000175707 KDF1 27838789 617337 "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" 20979233 ENSG00000187714 SLC18A3 27590285 617239 "Myasthenic syndrome, congenital, 21, presynaptic" 20123977 ENSG00000069966 GNB5 27523599 617182 Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia 20959458 ENSG00000260230 FRRS1L 27236917 616981 "Epileptic encephalopathy, early infantile, 37" 21147040 ENSG00000166974 MAPRE2 26637975 616734 "Symmetric circumferential skin creases, congenital, 2" 19182162 ENSG00000103657 HERC1 26138117 617011 "Macrocephaly, dysmorphic facies, and psychomotor retardation" 20041218 ENSG00000131183 SLC34A1 26047794 616963 "Hypercalcemia, infantile, 2" 20466674 ENSG00000157103 SLC6A1 25865495 616421 Myoclonic-atonic epilepsy 19966779 ENSG00000258366 RTEL1 25848748 616373 "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3" 19461895 ENSG00000125352 RNF113A 25612912 300953 "?Trichothiodystrophy 5, nonphotosensitive" 19377476 ENSG00000141378 PTRH2 25574476 616263 "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease" 18218778 ENSG00000138741 TRPC3 25477146 616410 Spinocerebellar ataxia 41 19351902 ENSG00000125885 MCM8 25437880 612885 Premature ovarian failure 10 19448619 ENSG00000217930 PAM16 24786642 613320 "Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type" 18925669 ENSG00000185551 NR2F2 24702954 615779 "Congenital heart defects, multiple types, 4" 18371933 ENSG00000148842 CNNM2 24699222 616418 "Hypomagnesemia, seizures, and mental retardation" 18371933 ENSG00000119139 TJP2 24614073 615878 "Cholestasis, progressive familial intrahepatic 4" 18172007 ENSG00000112367 FIG4 24598713 612691 "Polymicrogyria, bilateral temporooccipital" 18758830 ENSG00000152422 XRCC4 24389050 616541 "Short stature, microcephaly, and endocrine dysfunction" 18695064 ENSG00000077150 NFKB2 24140114 615577 "Immunodeficiency, common variable, 10" 18025196 ENSG00000254585 MAGEL2 24076603 615547 Schaaf-Yang syndrome 17728320 ENSG00000077092 RARB 24075189 615524 "Microphthalmia, syndromic 12" 17506106 ENSG00000139318 DUSP6 23643382 615269 Hypogonadotropic hypogonadism 19 with or without anosmia 17761590 ENSG00000144730 IL17RD 23643382 615267 Hypogonadotropic hypogonadism 18 with or without anosmia 17761590 ENSG00000187678 SPRY4 23643382 615266 Hypogonadotropic hypogonadism 17 with or without anosmia 17761590 ENSG00000177098 SCN4B 23604097 611819 "Atrial fibrillation, familial, 17" 17592081 ENSG00000125656 CLPP 23541340 614129 Perrault syndrome 3 17690910 ENSG00000085788 DDHD2 23176823 615033 "Spastic paraplegia 54, autosomal recessive" 16636240 ENSG00000010818 HIVEP2 23020937 616977 "Mental retardation, autosomal dominant 43" 16836985 ENSG00000103507 BCKDK 22956686 614923 Branched-chain ketoacid dehydrogenase kinase deficiency 16875466 ENSG00000172269 DPAGT1 22742743 614750 "Myasthenic syndrome, congenital, 13, with tubular aggregates" 16870884 ENSG00000122335 SERAC1 22683713 614739 "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome " 16527507 ENSG00000172007 RAB33B 22652534 615222 Smith-McCort dysplasia 2 16470731 ENSG00000037474 NSUN2 22541559 611091 "Mental retardation, autosomal recessive 5" 17120046 ENSG00000247626 MARS2 22448145 611390 "Spastic ataxia 3, autosomal recessive" 16672289 ENSG00000104738 MCM4 22354167 609981 Natural killer cell and glucocorticoid deficiency with DNA repair defect 16532402 ENSG00000148606 POLR3A 21855841 607694 "Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism" 15851747 ENSG00000102158 MAGT1 21796205 300853 "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia" 15804357 ENSG00000128591 FLNC 21620354 614065 "Myopathy, distal, 4" 15824355 ENSG00000145103 ILDR1 21255762 609646 "Deafness, autosomal recessive 42" 15641023 ENSG00000165280 VCP 21145000 613954 "Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" 15034582 ENSG00000101327 PDYN 21035104 610245 Spinocerebellar ataxia 23 15306549 ENSG00000165240 ATP7A 20170900 300489 "Spinal muscular atrophy, distal, X-linked 3" 14985388 ENSG00000113231 PDE8B 20085714 609161 "Striatal degeneration, autosomal dominant" 15210883 ENSG00000203485 INF2 20023659 613237 "Glomerulosclerosis, focal segmental, 5" 14750104 ENSG00000115718 PROC 2437584 176860 "Thrombophilia due to protein C deficiency, autosomal dominant" 6895379 ENSG00000116906 GNPAT 9536089 222765 "Rhizomelic chondrodysplasia punctata, type 2" 1405476 ENSG00000161533 ACOX1 8040306 264470 Peroxisomal acyl-CoA oxidase deficiency 2894756 ENSG00000169306 IL1RAPL1 10471494 300143 "Mental retardation, X-linked 21/34" 8357005 ENSG00000169057 MECP2 15689435 300260 "Mental retardation, X-linked syndromic, Lubs type" 10398236 ENSG00000172943 PHF8 16199551 300263 "Mental retardation syndrome, X-linked, Siderius type" 10398231 ENSG00000004848 ARX 11971879 300419 "Mental retardation, X-linked 29 and others" 9001795 ENSG00000203879 GDI1 9620768 300849 "Mental retardation, X-linked 41" 1362558 ENSG00000171867 PRNP 1439789 600072 "Insomnia, fatal familial" 3762620 ENSG00000198626 RYR2 11159936 600996 Arrhythmogenic right ventricular dysplasia 2 8589694 ENSG00000183873 SCN5A 9521325 601144 Brugada syndrome 1 1309182 ENSG00000117360 PRPF3 11773002 601414 Retinitis pigmentosa 18 8842740 ENSG00000135828 RNASEL 11799394 601518 Prostate cancer 1 8910276 ENSG00000018625 ATP1A2 12539047 602481 "Migraine, familial basilar" 9403481 ENSG00000018625 ATP1A2 12539047 602481 "Migraine, familial hemiplegic" 9403481 ENSG00000137672 TRPC6 15879175 603965 "Glomerulosclerosis, focal segmental, 2" 10200986 ENSG00000155980 KIF5A 12355402 604187 "Spastic paraplegia 10, autosomal dominant" 8649538 ENSG00000020922 MRE11 10612394 604391 Ataxia-telangiectasia-like disorder 8445618 ENSG00000144285 SCN1A 16326807 604403 "Febrile seizures, familial, 3A" 10486327 ENSG00000171954 CYP4F22 16436457 604777 "Ichthyosis, congenital, autosomal recessive 5" 10712223 ENSG00000139219 COL2A1 1975693 604864 Osteoarthritis with mild chondrodysplasia 6496567 ENSG00000131398 KCNC3 16501573 605259 Spinocerebellar ataxia 13 10820125 ENSG00000105974 CAV1 18237401 606721 "Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" 11781404 ENSG00000089280 FUS 19251627 608030 "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" 12858291 ENSG00000077942 FBLN1 11836357 608180 "Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" 8831136 ENSG00000019991 HGF 19576567 608265 "Deafness, autosomal recessive 39" 14512973 ENSG00000188452 CERKL 14681825 608380 Retinitis pigmentosa 26 9507394 ENSG00000007314 SCN4A 8308722 608390 Myotonia congenita atypical acetazolamide-responsive 3822145 ENSG00000033011 ALG1 14973782 608540 "Congenital disorder of glycosylation, type Ik" 9762608 ENSG00000033011 ALG1 14973778 608540 "Congenital disorder of glycosylation, type Ik" 9762608 ENSG00000033011 ALG1 14709599 608540 "Congenital disorder of glycosylation, type Ik" 9762608 ENSG00000084754 HADHA 7846063 609016 "HELLP syndrome, maternal, of pregnancy" 2567831 ENSG00000119614 VSX2 10932181 610092 Microphthalmia with coloboma 3 8209881 ENSG00000131187 F12 16638441 610618 "Angioedema, hereditary, type III" 10963200 ENSG00000109906 ZBTB16 18611983 612447 "Skeletal defects, genital hypoplasia, and mental retardation " 11891687 ENSG00000143839 REN 19664745 613092 "Hyperuricemic nephropathy, familial juvenile 2" 12634862 ENSG00000087470 DNM1L 17460227 614388 "Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1" 11514614 ENSG00000141551 CSNK1D 15800623 615224 "Advanced sleep-phase syndrome, familial, 2" 10470086 ENSG00000160654 CD3G 1635567 615607 "Immunodeficiency 17, CD3 gamma deficient" 2872416 ENSG00000189057 FAM111B 24268661 615704 "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" 17034542 ENSG00000122482 ZNF644 21695231 614167 Myopia 21 "Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457." ENSG00000090006 LTBP4 19836010 613177 "Cutis laxa, autosomal recessive, type IC" "Davidson, J. M., Giro, M. Cutis laxa and premature aging syndromes.In: Royce, P. M.; Steinmann, B. (eds.) : Connective Tissue and its Heritable Disorders: Molecular, Genetic, and Medical Aspects. (2nd ed.) New York: Wiley Liss (pub.) 2002. Pp. 525-560." ENSG00000125965 GDF5 16532400 610017 Multiple synostoses syndrome 2 "Akarsu, A. N., Rezaie, T., Demirtas, M., Farhud, D. D., Sarfarazi, M. Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5). Am. J. Hum. Genet. Suppl. 65: A281 only, 1999." ENSG00000087086 FTL 11438811 606159 Neurodegeneration with brain iron accumulation 3 "Hirayama, K., Takayanagi, T., Nakamura, R., Yanagisawa, N., Hattori, T., Kita, K., Yanagimoto, S., Fujita, M., Nagaoka, M., Satomura, Y., Sobue, I., Iizuka, R., Toyokura, Y., Satoyoshi, E. Spinocerebellar degenerations in Japan: a nationwide epidemiological and clinical study. Acta Neurol. Scand. 89 (suppl. 153): 1-22, 1994." ENSG00000136698 CFC1 11062482 605376 "Heterotaxy, visceral, 2, autosomal" "Perry, L. W., Neill, C. A., Ferencz, C., Rubin, J. D., Loffredo, C. A. Infants with congenital heart disease: the cases. In: Ferencz, C.; Rubin, J. D.; Loffredo, C. A.; Magee, C. A. (eds.): Epidemiology of Congenital Heart Disease: The Baltimore-Washington Infant Study 1981-1989. Vol. 4. Perspectives in Pediatric Cardiology. Mount Kisco, NY: Futura Publ. Co. 1993. Pp. 33-62." ENSG00000143970 ASXL2 27693232 617190 Shashi-Pena syndrome 19270745 ENSG00000141013 GAS8 26387594 616726 "Ciliary dyskinesia, primary, 33" 19043402 ENSG00000095787 WAC 26264232 616708 Desanto-Shinawi syndrome 18080323 ENSG00000147416 ATP6B1B2 25915598 616455 Zimmermann-Laband syndrome 2 18541964 ENSG00000128610 FEZF1 25192046 616030 "Hypogonadotropic hypogonadism 22, with or without anosmia" 17761590 ENSG00000170484 KRT74 24714551 614929 "Ectodermal dysplasia 7, hair/nail type" 17489990 ENSG00000186153 WWOX 24369382 614322 "Spinocrebellar ataxia, autosomal recessive 12" 17470496 ENSG00000129250 KIF1C 24319291 611302 "Spastic ataxia 2, autosomal recessive" 17273843 ENSG00000185532 PRKG1 23910461 615436 "Aortic aneurysm, familial thoracic 8" 16646045 ENSG00000174080 CTSF 23297359 615362 "Ceroid lipofuscinosis, neuronal, 13, Kufs type" 16508006 ENSG00000100523 DDHD1 23176821 609340 "Spastic paraplegia 28, autosomal recessive" 15786464 ENSG00000136425 CIB2 23023331 609439 Deafness autosomal recessive 48 15711797 ENSG00000167658 EEF2 23001565 609306 Spinocerebellar ataxia 26 15732118 ENSG00000197943 PLCG2 23000145 614878 "Autoinflammation, antibody deficiency, and immune dysregulation syndrome" 15845450 ENSG00000101333 PLCB4 22560091 614669 Auriculocondylar syndrome 2 16114046 ENSG00000169359 SLC33A1 22243965 614482 "Congenital cataracts, hearing loss, and neurodegeneration" 15902551 ENSG00000174640 SLCO2A1 22197487 614441 "Hypertrophic osteoarthropathy, primary, autosomal recessive 2" 16283874 ENSG00000140092 FBLN5 21576112 608895 "Macular degeneration, age-related, 3" 15269314 ENSG00000140092 FBLN5 21576112 608895 "Neuropathy, hereditary, with or without age-related macular degeneration" 15269314 ENSG00000134571 MYBPC3 21551322 615396 Left ventricular noncompaction 10 15519027 ENSG00000072864 NDE1 21529752 614019 Lissencephaly 4 (with microcephaly) 15473967 ENSG00000177990 DPY19L2 21397063 613958 Spermatogenic failure 9 15533374 ENSG00000120925 RNF170 21115467 608984 "Ataxia, sensory, 1, autosomal dominant" 15286160 ENSG00000109618 SEPSECS 20920667 613811 Pontocerebellar hypoplasia type 2D 12920088 ENSG00000139304 PTPRQ 20346435 613391 "Deafness, autosomal recessive 84A" 14534255 ENSG00000197594 ENPP1 20137773 613312 "Hypophosphatemic rickets, autosomal recessive, 2" 12881724 ENSG00000184156 KCNQ3 9425900 121201 "Seizures, benign neonatal, type 2" 1859177 ENSG00000225830 ERCC6 9443879 133540 "Cockayne syndrome, type B" 1951442 ENSG00000147889 CDKN2A 10797439 155755 Melanoma and neural system tumor syndrome 8414022 ENSG00000196712 NF1 9529361 162210 "Neurofibromatosis, familial spinal" 1745350 ENSG00000108557 RAI1 8401506 182290 Smith-Magenis syndrome 2425619 ENSG00000127948 POR 14758361 201750 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 9332650 ENSG00000133111 RFXAP 3934559 209920 "Bare lymphocyte syndrome, type II, complementation group D" 650344 ENSG00000143390 RFX5 3934559 209920 "Bare lymphocyte syndrome, type II, complementation group C" 650344 ENSG00000143390 RFX5 3934559 209920 "Bare lymphocyte syndrome, type II, complementation group E" 650344 ENSG00000139515 PDX1 9399911 245349 Lacticacidemia due to PDX1 deficiency 2112155 ENSG00000006016 CRLF1 12509788 272430 Cold-induced sweating syndrome 1 8723066 ENSG00000077279 DCX 9489699 300067 "Lissencephaly, X-linked" 1922811 ENSG00000077279 DCX 9489699 300067 "Subcortical laminal heteropia, X-linked" 1922811 ENSG00000158290 CUL4B 17236139 300354 "Mental retardation, X-linked, syndromic 15 (Cabezas type)" 10978355 ENSG00000174231 PRPF8 11468273 600059 Retinitis pigmentosa 13 7951236 ENSG00000108231 LGI1 11810107 600512 "Epilepsy, familial temporal lobe, 1" 7647791 ENSG00000181585 TMIE 12145746 600971 "Deafness, autosomal recessive 6" 8593615 ENSG00000165091 TMC1 11850618 600974 "Deafness, autosomal recessive 7" 8634715 ENSG00000122367 LDB3 14662268 601493 "Cardiomyopathy, dilated, 1C, with or without LVNC" 8823300 ENSG00000122367 LDB3 14662268 601493 Left ventricular noncompaction 3 8823300 ENSG00000244752 CRYBB2 9158139 601547 "Cataract 3, multiple types" 2240043 ENSG00000169714 CNBP 11486088 602668 Myotonic dystrophy 2 8058147 ENSG00000114209 PDCD10 15543491 603285 Cerebral cavernous malformations 3 9811928 ENSG00000130638 ATXN10 11017075 603516 Spinocerebellar ataxia 10 8421960 ENSG00000163898 LIPH 17095700 604379 Hypotrichosis 7 10509509 ENSG00000163898 LIPH 17095700 604379 "Woolly hair, autosomal recessive 2 with or without hypotrichosis" 10509509 ENSG00000145354 CISD2 17846994 604928 Wolfram syndrome 2 10739754 ENSG00000101421 CHMP4B 17701905 605387 "Cataract 31, multiple types" 10682967 ENSG00000223953 C1QTNF5 12944416 605670 "Retinal degeneration, late-onset, autosomal dominant" 8759344 ENSG00000117394 SLC2A1 9462754 606777 "GLUT1 deficiency syndrome 1, infantile onset, severe" 1714544 ENSG00000135917 SLC19A3 15871139 607483 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 9679779 ENSG00000170820 FSHR 12930927 608115 Ovarian hyperstimulation syndrome 8894317 ENSG00000230223 ATXN8OS 16804541 608768 Spinocerebellar ataxia 8 10192387 ENSG00000123066 MED13L 14638541 608808 "Transposition of the great arteries, dextro-looped 1" 8957507 ENSG00000164946 FREM1 19732862 608980 Bifid nose with or without anorectal and renal anomalies 11822703 ENSG00000134755 DSC2 18957847 610476 Arrhythmogenic right ventricular dysplasia 11 12392835 ENSG00000278570 NR2E3 17564971 611131 Retinitis pigmentosa 37 10655056 ENSG00000159197 KCNE2 15368194 611493 "Atrial fibrillation, familial, 4" 9070470 ENSG00000182533 CAV3 17060380 611818 Long QT syndrome 9 10220144 ENSG00000105974 CAV1 18211975 612526 "Lipodystrophy, congenital generalized, type 3" 11739396 ENSG00000100416 TRMU 19732863 613070 "Liver failure, transient infantile" 12408186 ENSG00000146733 PSPH 14673469 614023 Phosphoserine phosphatase deficiency 9222972 ENSG00000151849 CENPJ 20522431 613676 Seckel syndrome 4 "Faivre, L., Le Merrer, M., Lyonnet, S., Plauchu, H., Dagoneau, N., Campos-Xavier, A. B., Attia-Sobol, J., Verloes, A., Munnich, A., Cormier-Daire, V. Clinical and genetic heterogeneity of Seckel syndrome. Am. J. Med. Genet. 112: 369-383, 2002." ENSG00000198951 NAGA 8782044 609241 "Schindler disease, type III" "Schindler, D., Bishop, D. F., Wallace, S., Wolfe, D. E., Desnick, R. J. Characterization of alpha-N-acetylgalactosaminidase deficiency: a new neurodegenerative lysosomal disease. (Abstract) Pediat. Res. 23: 333A only, 1988." ENSG00000244045 TMEM199 26833330 616829 "Congenital disorder of glycosylation, type Iip" 19067230 ENSG00000038382 TRIO 26721934 617061 "Mental retardation, autosomal dominant 44" 18388777 ENSG00000142186 SCYL1 26581903 616719 "Spinocerebellar ataxia, autosomal recessive " 17571074 ENSG00000163754 GYG1 25272951 616199 Polyglucosan body myopathy 2 17106730 ENSG00000143318 CASQ1 25116801 616231 "Myopathy, vacuolar, with CASQ1 aggregates" 16714317 ENSG00000188467 SLC24A5 23364476 113750 "Albinism, oculocutaneous, type VI" 16357253 ENSG00000070610 GBA2 23332916 614409 "Spastic paraplegia 46, autosomal recessive" 16550933 ENSG00000152784 PRDM8 22961547 616640 "Epilepsy, progressive myoclonic, 10" 15304597 ENSG00000121552 CSTA 21944047 607936 Peeling skin syndrome 4 12890214 ENSG00000173402 DAG1 21388311 613818 "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9" 14678799 ENSG00000234438 KBTBD13 21109227 609273 "Nemaline myopathy 6, autosomal dominant" 11731279 ENSG00000139131 YARS2 20598274 613561 "Myopathy, lactic acidosis, and sideroblastic anemia 2" 12075011 ENSG00000170374 SP7 20579626 613849 "Osteogenesis imperfecta, type XII" 11792318 ENSG00000174469 CNTNAP2 19896112 610042 Pitt-Hopkins like syndrome 1 11568923 ENSG00000239900 ADSL 1302001 103050 Adenylosuccinase deficiency 6150139 ENSG00000073282 TP63 11528512 103285 ADULT syndrome 8456838 ENSG00000118271 TTR 1979335 145680 Dystransthyretinemic hyperthyroxinemia 6287778 ENSG00000106571 GLI3 9054938 146510 Pallister-Hall syndrome 2596511 ENSG00000106617 PRKAG2 1587727 261740 "Glycogen storage disease of heart, lethal congenital" 6424667 ENSG00000196924 FLNA 17632775 300321 FG syndrome 2 10449643 ENSG00000067177 PHKA1 7874115 300559 Muscle glycogenosis 3083284 ENSG00000125675 GRIA3 17989220 300699 "Mental retardation, X-linked 94" 10644433 ENSG00000145362 ANK2 12571597 600919 "Cardiac arrhythmia, ankyrin-B-related" 7485162 ENSG00000145362 ANK2 12571597 600919 Long QT syndrome 4 7485162 ENSG00000036828 CASR 12241879 601198 "Hypocalcemia, autosomal dominant, with Bartter syndrome " 7874174 ENSG00000162337 LRP5 15024691 601813 Exudative vitreoretinopathy 4 8832721 ENSG00000073282 TP63 11462173 603543 Limb-mammary syndrome 8456838 ENSG00000164961 WASHC5 17160902 603563 "Spastic paraplegia 8, autosomal dominant" 9973294 ENSG00000128881 TTBK2 18037885 604432 Spinocerebellar ataxia 11 10417284 ENSG00000179520 SLC17A8 18674745 605583 "Deafness, autosomal dominant 25" 11115382 ENSG00000108556 CHRNE 7531341 605809 "Myasthenic syndrome, congenital, 4A, slow-channel" 3651795 ENSG00000104055 TGM5 16380904 609796 Peeling skin syndrome 2 9126018 ENSG00000169344 UMOD 14570709 609886 Glomerulocystic kidney disease with hyperuricemia and isosthenuria 7723240 ENSG00000127914 AKAP9 18093912 611820 Long QT syndrome-11 10220144 ENSG00000168615 ADAM9 19409519 612775 Cone-rod dystrophy 9 11581183 ENSG00000177807 KCNJ10 19289823 612780 SESAME syndrome 11466414 ENSG00000183010 PYCR1 19576563 612940 "Cutis laxa, autosomal recessive, type IIB" 11424136 ENSG00000175294 CATSPER1 19344877 612997 Spermatogenic failure 7 11595941 ENSG00000118762 PKD2 8650545 613095 Polycystic kidney disease 2 2843768 ENSG00000162676 GFI1 12778173 613107 "Neutropenia, severe congenital 2, autosomal dominant" 7789186 ENSG00000123700 KCNJ2 15922306 613980 "Atrial fibrillation, familial, 9" 9070470 ENSG00000185818 NAT8L 19807691 614063 N-acetylaspartate deficiency 11310630 ENSG00000146070 PLA2G7 8675689 614278 Platelet-activating factor acetylhydrolase deficiency 3198761 ENSG00000088682 COQ9 19375058 614654 "Coenzyme Q10 deficiency, primary, 5" 11562630 ENSG00000188157 AGRN 19631309 615120 "Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects" 11323662 ENSG00000025796 SEC63 15133510 617004 Polycystic liver disease 2 8591848 ENSG00000163956 LRPAP1 23830514 615431 "Myopia 23, autosomal recessive" "Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457." ENSG00000164306 PRIMPOL 23579484 615420 "Myopia 22, autosomal dominant" "Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia : Saunders , 2004. P. 457." ENSG00000081051 AFP 7684942 615970 [Hereditary persistence of alpha-fetoprotein] "Ferguson-Smith, M. A., May, H. M., Aitken, D. A., O'Hare, E., Yates, J. R. W., Gallagher, J., Krumlauf, R., Tilghman, S. M. Hereditary persistence of alphafetoprotein (HPAFP); linkage studies with chromosome 4 markers. (Abstract) Cytogenet. Cell Genet. 37: 469, 1984." ENSG00000205678 TECRL 27861123 614021 "Ventricular tachycardia, catecholaminergic polymorphic, 3" 17666061 ENSG00000186790 FOXE3 27218149 612968 "Cataract 34, multiple types" 17893665 ENSG00000114956 DGUOK 26874653 617068 "Portal hypertension, noncirrhotic" 17452231 ENSG00000111581 NUP107 26411495 616730 "Nephrotic syndrome, type 11" 16968734 ENSG00000160285 LSS 26200341 616509 Cataract 44 16440058 ENSG00000102580 DNAJC3 25466870 616192 "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" 15793246 ENSG00000095485 CWF19L1 25361784 616127 "Spinocerebellar ataxia, autosomal recessive 17" 15981765 ENSG00000112782 CLIC5 24781754 616042 "?Deafness, autosomal recessive 103" 17021174 ENSG00000113494 PRLR 24195502 615555 Hyperprolactinemia 15218000 ENSG00000050030 NEXMIF 23615299 300912 "Mental retardation, X-linked 98" 15466006 ENSG00000166340 TPP1 23418007 609270 "Spinocerebellar ataxia, autosomal recessive 7" 15520412 ENSG00000078579 FGF20 22698282 615721 Renal hypodysplasia/aplasia 2 12694239 ENSG00000060762 MPC1 22628558 614741 Mitochondrial pyruvate carrier deficiency 12649063 ENSG00000091262 ABCC6 22209248 614473 "Arterial calcification, generalized, of infancy, 2" 12881724 ENSG00000207695 MIR184 21996275 614303 EDICT syndrome 11874753 ENSG00000111199 TRPV4 21964574 606835 "Digital arthropathy-brachydactyly, familial" 11891693 ENSG00000203908 KHDC3L 21885028 614293 "Hydatidiform mole, recurrent, 2" 11932746 ENSG00000163453 IGFBP7 21835307 614224 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis 12441727 ENSG00000166037 CEP57 21552266 614114 Mosaic variegated aneuploidy syndrome 2 12116237 ENSG00000092054 MYH7 15322983 160500 Laing distal myopathy 7847377 ENSG00000106031 HOXA13 11968094 176305 Guttmacher syndrome 8484413 ENSG00000185245 GP1BA 2052556 177820 "von Willebrand disease, platelet-type" 6798442 ENSG00000106348 IMPDH1 11875050 180105 Retinitis pigmentosa 10 8513323 ENSG00000234906 APOC2 3467353 207750 "Hyperlipoproteinemia, type Ib" 565877 ENSG00000178919 FOXE1 9697705 241850 Bamforth-Lazarus syndrome 2918525 ENSG00000198689 SLC9A6 18342287 300243 "Mental retardation, X-linked syndromic, Christianson type" 10528855 ENSG00000130385 BMP15 15136966 300510 Ovarian dysgenesis 2 7553856 ENSG00000130385 BMP15 15136966 300510 Premature ovarian failure 4 7553856 ENSG00000125351 UPF3B 17704778 300676 "Mental retardation, X-linked, syndromic 14" 9805132 ENSG00000105357 MYH14 15015131 600652 "Deafness, autosomal dominant 4A" 7655461 ENSG00000167434 CA4 15090652 600852 Retinitis pigmentosa 17 7581389 ENSG00000116133 DHCR24 11519011 602398 Desmosterolosis 1642277 ENSG00000149418 ST14 17273967 602400 "Ichthyosis, congenital, autosomal recessive 11" 9450882 ENSG00000155657 TTN 10053013 603689 "Myopathy, proximal, with early respiratory muscle involvement" 2376753 ENSG00000128656 CHN1 18653847 604356 Duane retraction syndrome 2 10577917 ENSG00000204267 TAP2 7517574 604571 "Bare lymphocyte syndrome, type I, due to TAP2 deficiency" 3891604 ENSG00000156515 HK1 19536174 605285 "Neuropathy, hereditary motor and sensory, Russe type" 10915613 ENSG00000163703 CRELD1 12632326 606217 "Atrioventricular septal defect, partial, with heterotaxy syndrome" 7951234 ENSG00000095397 WHRN 12833159 607084 "Deafness, autosomal recessive 31" 8088814 ENSG00000269900 RMRP 16252239 607095 Anauxetic dysplasia 8723091 ENSG00000120708 TGFBI 9054935 607541 "Corneal dystrophy, Avellino type" 3278259 ENSG00000103126 AXIN1 12376942 607864 Caudal duplication anomaly 8213674 ENSG00000007062 PROM1 18654668 608051 Macular dystrophy retinal 2 10205271 ENSG00000107815 TWNK 11431692 609286 "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" 1634620 ENSG00000169313 P2RY12 11196645 609821 "Bleeding disorder, platelet-type, 8" 1333302 ENSG00000137285 TUBB2B 19465910 610031 "Polymicrogyria, symmetric or asymmetric" 10891642 ENSG00000162552 WNT4 18179883 611812 SERKAL syndrome 9989404 ENSG00000130037 KCNA5 16772329 612240 "Atrial fibrillation, familial, 7" 9070470 ENSG00000101400 SNTA1 18591664 612955 Long QT syndrome 12 10220144 ENSG00000136931 NR5A1 19246354 612964 Premature ovarian failure 7 11038323 ENSG00000159251 ACTC1 17611253 613424 Left ventricular noncompaction 4 9563954 ENSG00000196565 HBG2 2483933 613977 "Cyanosis, transient neonatal" 6158500 ENSG00000183873 SCN5A 16684018 614022 "Atrial fibrillation, familial, 10" 9070470 ENSG00000166035 LIPC 1883393 614025 Hepatic lipase deficiency 6961921 ENSG00000265107 GJA5 16790700 614049 "Atrial fibrillation, familial, 11" 9070470 ENSG00000133703 KRAS 16474404 615278 Cardiofaciocutaneous syndrome 2 9272711 ENSG00000139540 SLC39A5 24891338 615946 "Myopia 24, autosomal dominant" "Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia: Saunders. 2004. P. 457." ENSG00000267534 S1PR2 26805784 610419 "Deafness, autosomal recessive 68" 16703383 ENSG00000124587 PEX6 26387595 616617 Heimler syndrome 2 16530715 ENSG00000174996 KLC2 26385635 609541 "Spastic paraplegia, optic atrophy, and neuropathy" 15852396 ENSG00000139197 PEX5 26220973 616716 "Rhizomelic chondrodysplasia punctata, type 5" 15679822 ENSG00000185507 IRF7 25814066 616345 Immunodeficiency 39 15800576 ENSG00000151617 EDNRA 25772936 616367 "Mandibulofacial dysostosis with alopecia, " 16116593 ENSG00000146038 DCDC2 25601850 610212 "?Deafness, autosomal recessive 66" 16244493 ENSG00000152795 HNRNPDL 24647604 609115 "Muscular dystrophy, limb-girdle, type 1G" 15367920 ENSG00000276045 ORAI1 24591628 615883 "Myopathy, tubular aggregate, 2" 15452313 ENSG00000164742 ADCY1 24482543 610154 "Deafness, autosomal recessive 44" 15583425 ENSG00000161217 PCYT1A 24387990 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy 15326626 ENSG00000166558 SLC38A8 24045842 609218 "Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" 15466012 ENSG00000198286 CARD11 23561803 615206 Immunodeficiency 11 12818158 ENSG00000123066 MED13L 23403903 616789 Mental retardation and distinctive facial features with or without cardiac defects 14638541 ENSG00000198286 CARD11 23374270 615206 Immunodeficiency 11 12818158 ENSG00000157856 DRC1 23354437 615294 "Ciliary dyskinesia, primary" 12746204 ENSG00000119681 LTBP2 22539340 614819 "Weill-Marchesani syndrome 3, recessive" 11941487 ENSG00000101773 RBBP8 21998596 606744 Seckel syndrome 2 11781686 ENSG00000163170 BOLA3 21944046 614299 Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia 11156534 ENSG00000099246 RAB18 21473985 614222 Warburg micro syndrome 3 11237903 ENSG00000094804 CDC6 21358632 613805 Meier-Gorlin syndrome 5 11477602 ENSG00000115947 ORC4 21358632 613800 Meier-Gorlin syndrome 2 11477602 ENSG00000167513 CDT1 21358632 613804 Meier-Gorlin syndrome 4 11477602 ENSG00000099797 TECR 21212097 614020 "Mental retardation, autosomal recessive 14" 11590547 ENSG00000162065 TBC1D24 20727515 605021 "Myoclonic epilepsy, infantile, familial" 10741954 ENSG00000154856 APCDD1 20393562 605389 Hypotrichosis 1 10878665 ENSG00000155961 RAB39B 20159109 300271 "Mental retardation, X-linked 72" 11050621 ENSG00000107882 SUFU 10969942 155255 "Medulloblastoma, desmoplastic" 1979050 ENSG00000164610 RP9 12032732 180104 Retinitis pigmentosa 9 1427827 ENSG00000160789 LMNA 10080180 181350 "Emery-Dreifuss muscular dystrophy 2, AD" 2685312 ENSG00000234906 APOC2 3225819 207750 "Hyperlipoproteinemia, type Ib" 565877 ENSG00000164172 MOCS2 10053004 252160 Molybdenum cofactor deficiency B 2522104 ENSG00000111424 VDR 2849209 277440 "Rickets, vitamin D-resistant, type IIA" 205789 ENSG00000004848 ARX 12379852 300215 Hydranencephaly with abnormal genitalia 1605226 ENSG00000004848 ARX 12379852 300215 "Lissencephaly, X-linked 2" 1605226 ENSG00000147180 ZNF711 19377476 300803 "Mental retardation, X-linked 97" 10398247 ENSG00000186104 CYP2R1 15128933 600081 Rickets due to defect in vitamin D 25-hydroxylation 8201479 ENSG00000188107 EYS 18510646 602772 Retinitis pigmentosa 25 9585594 ENSG00000170876 TMEM43 18313022 604400 Arrhythmogenic right ventricular dysplasia 5 9860777 ENSG00000077498 TYR 6770679 606952 "Albinism, oculocutaneous, type IB" 5516239 ENSG00000125779 PANK2 12058097 607236 HARP syndrome 1734303 ENSG00000057294 PKP2 15489853 609040 Arrhythmogenic right ventricular dysplasia 9 8142187 ENSG00000107779 BMPR1A 16525031 610069 "Polyposis syndrome, hereditary mixed, 2" 8644741 ENSG00000163933 RFT1 18313027 612015 "Congenital disorder of glycosylation, type In" 9516657 ENSG00000068078 FGFR3 7493034 612247 Crouzon syndrome with acanthosis nigricans 3894462 ENSG00000134333 LDHA 2334430 612933 Glycogen storage disease XI 7449146 ENSG00000130714 POMT1 16575835 613155 "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1" 8879654 ENSG00000175197 DDIT3 8913727 613488 Myxoid liposarcoma 3955533 ENSG00000169432 SCN9A 19763161 613863 "Epilepsy, generalized, with febrile seizures plus, type 7" 10514109 ENSG00000169432 SCN9A 19763161 613863 "Febrile seizures, familial, 3B" 10514109 ENSG00000010610 CD4 1961196 613949 OKT4 epitope deficiency 6790623 ENSG00000010610 CD4 1708753 613949 OKT4 epitope deficiency 6790623 ENSG00000126231 PROZ 15626740 614024 Protein Z deficiency 7495103 ENSG00000175899 A2M 2475424 614036 Alpha-2-macroglobulin deficiency 94459 ENSG00000069431 ABCC9 17245405 614050 "Atrial fibrillation, familial, 12" 9070470 ENSG00000172638 EFEMP2 16685658 614437 "Cutis laxa, autosomal recessive, type IB" 8985490 ENSG00000072682 P4HA2 25741866 617238 "Myopia 25, autosomal dominant" "Kaiser, P. K., Friedman, N. J., Pineda, R., II. The Massachusetts Eye and Ear Infirmary Illustrated Manual of Ophthalmology. Vol. 2. Philadelphia: Saunders 2004. P. 457." ENSG00000137070 IL11RA 21741611 614188 Craniosynostosis and dental anomalies "Cohen, M. M., Jr., MacLean, R. E. Craniosynostosis: Diagnosis, Evaluation, and Management. (2nd ed.) New York: Oxford Univ. Press (pub.) 2000. P. 412." ENSG00000132386 SERPINF1 21353196 613982 "Osteogenesis imperfecta, type VI" "Ward, L. M., Lalic, L., Lalic, R., Roughley, P., Rauch, F., Plotkin, H., Travers, R., Glorieux, F. H. The clinical, molecular and histological heterogeneity of type IV osteogenesis imperfecta. (Abstract) J. Bone Miner. Res. 15: S163 only, 2000." ENSG00000151779 NBAS 20577004 614800 "Short stature, optic nerve atrophy, and Pelger-Huet anomaly" "Nogovitsina, A. N., Maximova, N. R., Khandy, M. V., Alexeeva, S. P. Monogenic hereditary diseases in families consulted in Medical Genetic Department of National Center of Medicine of Republic of Sakha in 1990-1998. Far East. Med. J. 1: 17-21, 1999. Note: Article in Russian." ENSG00000158887 MPZ 8816708 605253 "Neuropathy, congenital hypomyelinating" "Harati, Y., Butler, I. J. Congenital hypomyelinating neuropathy. J. Neurol. Neurosurg. Psych. 48: 1269-1276, 1985." ENSG00000104884 ERCC2 7849702 278730 "Xeroderma pigmentosum, group D" "Moshell, A. N., Ganges, M. B., Lutzner, M. A., Coon, H. G., Barrett, S. F., Dupuy, J. M., Robbins, J. H. A new patient with both xeroderma pigmentosum and Cockayne syndrome establishes the new xeroderma pigmentosum complementation group H. In: Friedberg, E. C.; Bridges, B. A. (eds.): Cellular Responses to DNA Damage. New York: Alan R. Liss (pub.) 1983. Pp. 209-213." ENSG00000021852 C8B 8098723 613789 "C8 deficiency, type II" "Marcus, D., Spira, T. J., Petersen, B. H., Raum, D., Alper, C. A. There are two unlinked genetic loci for human C8. (Abstract) Molec. Immun. 19: 1385 only, 1982." ENSG00000224389 C4B 7451653 614379 C4B deficiency "Torisu, M., Sonozaki, H., Inai, S., Arata, M. Deficiency of the fourth component of complement in man. J. Immunogenet. 104: 728-737, 1970." ENSG00000244731 C4A 7451653 614380 C4a deficiency "Torisu, M., Sonozaki, H., Inai, S., Arata, M. Deficiency of the fourth component of complement in man. J. Immunogenet. 104: 728-737, 1970." ENSG00000164885 CDK5 25560765 616342 Lissencephaly 7 with cerebellar hypoplasia 15067135 ENSG00000185129 PURA 25439098 616158 "Mental retardation, autosomal dominant 31" 12972605 ENSG00000010072 SPRTN 25261934 616200 Ruijs-Aalfs syndrome 12503110 ENSG00000141252 VPS53 24577744 615851 "Pontocerebellar hypoplasia, type 2E" 12920088 ENSG00000173402 DAG1 24052401 616538 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" 12140559 ENSG00000185825 BCAP31 24011989 300475 "Deafness, dystonia, and cerebral hypomyelination" 11992258 ENSG00000102452 NALCN 23749988 615419 "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1" 12558119 ENSG00000104833 TUBB4A 23582646 612438 "Leukodystrophy, hypomyelinating, 6" 12372733 ENSG00000112053 SLC26A8 23582645 606766 Spermatogenic failure 3 11935327 ENSG00000122566 HNRNPA2B1 23455423 615422 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 11891683 ENSG00000160602 NEK8 23418306 615415 Renal-hepatic-pancreatic dysplasia 2 12421721 ENSG00000187848 P2RX2 23345450 608224 "Deafness, autosomal dominant 41" 12161595 ENSG00000163932 PRKCD 23319571 615559 "Autoimmune lymphoproliferative syndrome, type III" 11976687 ENSG00000171385 KCND3 23280837 607346 Spinocerebellar ataxia 19 11284128 ENSG00000120071 KANSL1 22544367 610443 Koolen-De Vries syndrome 11237021 ENSG00000105974 CAV1 22474227 615343 "Pulmonary hypertension, primary, 3" 11498544 ENSG00000113448 PDE4D 22464250 614613 "Acrodysostosis 2, with or without hormone resistance" 11200992 ENSG00000163820 FYCO1 21636066 610019 "Cataract 18, autosomal recessive" 11006246 ENSG00000204020 LIPN 21439540 613943 "Ichthyosis, congenital, autosomal recessive 8" 10712205 ENSG00000170484 KRT74 21188418 613981 Hypotrichosis 3 10793007 ENSG00000154227 CERS3 21093221 615023 "Ichthyosis, congenital, autosomal recessive 9" 10712205 ENSG00000164619 BMPER 20869035 608022 Diaphanospondylodysostosis 10457849 ENSG00000107796 ACTA2 20734336 613834 Multisystemic smooth muscle dysfunction syndrome 10532176 ENSG00000170264 FAM161A 20705278 606068 Retinitis pigmentosa 28 10507729 ENSG00000121680 PEX16 20647552 614877 Peroxisome biogenesis disorder 8B 10573465 ENSG00000103995 CEP152 20598275 614852 "Microcephaly 9, primary, autosomal recessive" 10521316 ENSG00000120457 KCNJ5 20560207 613485 Long QT syndrome 13 10220144 ENSG00000160882 CYP11B1 1731223 103900 "Aldosteronism, glucocorticoid-remediable" 6268977 ENSG00000160882 CYP11B1 1472060 103900 "Aldosteronism, glucocorticoid-remediable" 6268977 ENSG00000149131 SERPING1 7883978 120790 "Complement component 4, partial deficiency of" 6480834 ENSG00000135903 PAX3 7942851 122880 Craniofacial-deafness-hand syndrome 6859126 ENSG00000105409 ATP1A3 15260953 128235 Dystonia-12 8255463 ENSG00000160789 LMNA 10814726 159001 "Muscular dystrophy, limb-girdle, type 1B" 2685312 ENSG00000131979 GCH1 7869202 233910 "Hyperphenylalaninemia, BH4-deficient, B" 6734669 ENSG00000073578 SDHA 7550341 252011 Mitochondrial respiratory chain complex II deficiency 6318158 ENSG00000133835 HSD17B4 9345094 261515 D-bifunctional protein deficiency 2868085 ENSG00000167711 SERPINF2 2572590 262850 Alpha-2-plasmin inhibitor deficiency 82839 ENSG00000181830 SLC35C1 11326280 266265 "Congenital disorder of glycosylation, type Iic" 1699667 ENSG00000181830 SLC35C1 11326279 266265 "Congenital disorder of glycosylation, type Iic" 1699667 ENSG00000175595 ERCC4 8797827 278760 "Xeroderma pigmentosum, group F" 3834095 ENSG00000182372 CLN8 15024724 600143 "Ceroid lipofuscinosis, neuronal, 8" 7683855 ENSG00000110711 AIP 16728643 600634 "Pituitary adenoma, prolactin-secreting" 7621566 ENSG00000198734 F5 9245936 600880 Budd-Chiari syndrome 3949113 ENSG00000134769 DTNA 11238270 604169 "Left ventricular noncompaction 1, with or without congenital heart defects" 2372897 ENSG00000091483 FH 8200987 606812 Fumarase deficiency 6616883 ENSG00000084073 ZMPSTE24 12913070 608612 Mandibuloacral dysplasia with type B lipodystrophy 1642279 ENSG00000155657 TTN 12145747 608807 "Muscular dystrophy, limb-girdle, type 2J" 1745277 ENSG00000155380 SLC16A1 12502513 610021 "Hyperinsulinemic hypoglycemia, familial, 7" 1358043 ENSG00000169946 ZFPM2 16103912 610187 Diaphragmatic hernia 3 7815446 ENSG00000175206 NPPA 18614783 612201 "Atrial fibrillation, familial, 6" 9070470 ENSG00000184500 PROS1 7545463 612336 "Thrombophilia due to protein S deficiency, autosomal dominant" 6239102 ENSG00000026297 RNASET2 19525954 612951 "Leukoencephalopathy, cystic, without megalencephaly" 9810556 ENSG00000111319 SCNN1A 19462466 613021 Bronchiectasis with or without elevated sweat chloride 2 9654209 ENSG00000173894 CBX2 19361780 613080 46XY sex reversal 5 9641679 ENSG00000113905 HRG 9414276 613116 Thrombophilia due to elevated HRG 3689697 ENSG00000113905 HRG 9414276 613116 Thrombophilia due to HRG deficiency 3689697 ENSG00000116031 CD207 15816828 613393 Birbeck granule deficiency 7798619 ENSG00000172037 LAMB2 16912710 614199 "Nephrotic syndrome, type 5, with or without ocular abnormalities" 7670489 ENSG00000197408 CYP2B6 15622315 614546 "Efavirenz, poor metabolism of" 8432525 ENSG00000160789 LMNA 10739764 616516 "Emery-Dreifuss muscular dystrophy 3, AR" 2685312 ENSG00000070182 SPTB 8102379 616649 "Spherocytosis, type 2" 6215583 ENSG00000166147 FBN1 20979188 616914 Marfan lipodystrophy syndrome "Verloes, A., Pierard, G., Lombet, J., De Paepe, A. Congenital progeroid-marfanoid syndrome: variant of Wiedemann-Rautenstrauch or new syndrome? (Abstract) Proc. Greenwood Genet. Center 17: 103-104, 1998." ENSG00000132326 PER2 11232563 604348 "Advanced sleep phase syndrome, familial, 1" "Singer, C. M., Lewy, A. J. Use of the dim light melatonin onset in the treatment of ASPS with bright light. Sleep Res. 18: 445, 1989." ENSG00000157184 CPT2 11477613 608836 "CPT II deficiency, lethal neonatal" "Hug, G., Soukup, S., Berry, H., Bove, K. Carnitine palmityl transferase (CPT): deficiency of CPT II but not of CPT I with reduced total and free carnitine but increased acylcarnitine. (Abstract) Pediat. Res. 25 (suppl.): 115A only, 1989." ENSG00000160255 ITGB2 2880869 116920 Leukocyte adhesion deficiency "Niethammer, D., Dieterle, U., Kleihauer, E., Wildfeuer, A., Haferkamp, O., Hitzig, W. H. An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms. Helv. Paediat. Acta 30: 537-541, 1975." ENSG00000143373 ZNF687 26849110 616833 Paget disease of bone 6 15123951 ENSG00000197256 KANK2 24671081 616099 Palmoplantar keratoderma and woolly hair 11874502 ENSG00000114859 CLCN2 23707145 615651 Leukoencephalopathy with ataxia 11250895 ENSG00000064419 TNPO3 23667635 608423 "Muscular dystrophy, limb-girdle, type 1F" 11222786 ENSG00000064419 TNPO3 23543484 608423 "Muscular dystrophy, limb-girdle, type 1F" 11222786 ENSG00000134343 ANO3 23200863 615034 Dystonia 24 11009204 ENSG00000185803 SLC52A2 22740598 614707 Brown-Vialetto-Van Laere syndrome 2 10797435 ENSG00000107371 EXOSC3 22544365 614678 "Pontocerebellar hypoplasia, type 1B" 11020648 ENSG00000167646 DNAAF3 22387996 606763 "Ciliary dyskinesia, primary, 2" 10745040 ENSG00000196660 SLC30A10 22341972 613280 Hypermanganesemia with dystonia 1 11040156 ENSG00000180316 PNPLA1 22246504 615024 "Ichthyosis, congenital, autosomal recessive 10" 10712205 ENSG00000125744 RTN2 22232211 604805 "Spastic paraplegia 12, autosomal dominant" 10677333 ENSG00000131873 CHSY1 21129728 605282 Temtamy preaxial brachydactyly syndrome 9823490 ENSG00000185002 RFX6 20148032 615710 Mitchell-Riley syndrome 9677074 ENSG00000104133 SPG11 20110243 602099 "Amyotrophic lateral sclerosis 5, juvenile" 9933301 ENSG00000171714 ANO5 20096397 613319 Miyoshi muscular dystrophy 3 9673985 ENSG00000018625 ATP1A2 15174025 104290 Alternating hemiplegia of childhood 1361034 ENSG00000114270 COL7A1 9406826 131705 Transient bullous of the newborn 3901931 ENSG00000141655 TNFRSF11A 10615125 174810 "Osteolysis, familial expansile" 3346299 ENSG00000183691 NOG 12089654 184460 Stapes ankylosis with broad thumb and toes 2319886 ENSG00000068078 FGFR3 7773297 187601 "Thanatophoric dysplasia, type II" 6683076 ENSG00000110400 NECTIN1 10932188 225060 Orofacial cleft 7 2845087 ENSG00000269900 RMRP 11940090 250460 Metaphyseal dysplasia without hypotrichosis 2277385 ENSG00000125741 OPA3 11668429 258501 "3-methylglutaconic aciduria, type III" 2494568 ENSG00000164708 PGAM2 8447317 261670 Glycogen storage disease X 6262916 ENSG00000130948 HSD17B3 6310248 264300 "Pseudohermaphroditism, male, with gynecomastia" 4252809 ENSG00000004848 ARX 14722918 300004 Proud syndrome 1605226 ENSG00000102144 PGK1 6933565 300653 Phosphoglycerate kinase 1 deficiency 4230542 ENSG00000022267 FHL1 18179901 300695 "Scapuloperoneal myopathy, X-linked dominant" 8619529 ENSG00000262919 CCNQ 18297069 300707 STAR syndrome 8818947 ENSG00000171365 CLCN5 9062355 308990 "Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis" 4006335 ENSG00000068438 FTSJ1 15162322 309549 "Mental retardation, X-linked 9/44" 1605215 ENSG00000115839 RAB3GAP1 15696165 600118 Warburg micro syndrome 1 8249951 ENSG00000173898 SPTBN2 16429157 600224 Spinocerebellar ataxia 5 7874171 ENSG00000091622 PITPNM3 17377520 600977 Cone-rod dystrophy 5 8586428 ENSG00000178802 MPI 9525984 602579 "Congenital disorder of glycosylation, type Ib" 3080572 ENSG00000131931 THAP1 19182804 602629 "Dystonia 6, torsion" 9382482 ENSG00000203782 LOR 8673107 604117 Vohwinkel syndrome with ichthyosis 6237617 ENSG00000104133 SPG11 17322883 604360 "Spastic paraplegia 11, autosomal recessive" 7561945 ENSG00000073282 TP63 10839977 605289 Split-hand/foot malformation 4 3366140 ENSG00000169696 ASPSCR1 11244503 606243 Alveolar soft-part sarcoma 2642727 ENSG00000133020 MYH8 15282353 608837 Carney complex variant 1600999 ENSG00000118194 TNNT2 16651346 612422 "Cardiomyopathy, familial restrictive, 3" 8205619 ENSG00000149781 FERMT3 19234463 612840 "Leukocyte adhesion deficiency, type III" 9312170 ENSG00000105711 SCN1B 19808477 615377 "Atrial fibrillation, familial, 13" 9070470 ENSG00000149575 SCN2B 19808477 615378 "Atrial fibrillation, familial, 14" 9070470 ENSG00000151729 SLC25A4 16155110 615418 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 8479824 ENSG00000163631 ALB 8064810 615999 Dysalbuminemic hyperthyroxinemia 6806311 ENSG00000165917 RAPSN 11791205 616326 "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" 2245297 ENSG00000139219 COL2A1 15930420 608805 Avascular necrosis of the femoral head "Atsumi, T., Kuroki, Y. Role of impairment of blood supply of the femoral head in the pathogenesis of idiopathic osteonecrosis. Clin. Orthop. 277: 22-30, 1992." ENSG00000122877 EGR2 9537424 605253 "Neuropathy, congenital hypomyelinating, 1" "Harati, Y., Butler, I. J. Congenital hypomyelinating neuropathy. J. Neurol. Neurosurg. Psych. 48: 1269-1276, 1985." ENSG00000196517 SLC6A9 27481395 617301 Glycine encephalopathy with normal serum glycine 14622582 ENSG00000184979 USP18 27325888 617397 Pseudo-TORCH syndrome 2 12833411 ENSG00000142867 BCL10 25365219 616098 Immunodeficiency 37 11163238 ENSG00000099365 STX1B 25362483 616172 "Generalized epilepsy with febrile seizures plus, type 9" 11591834 ENSG00000205090 TMEM240 25070513 607454 Spinocerebellar ataxia 21 11160961 ENSG00000158526 TSR2 24942156 300946 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 11424144 ENSG00000158055 GRHL3 24360809 606713 Van der Woude syndrome 2 11781685 ENSG00000138002 IFT172 24140113 615630 Short-rib thoracic dysplasia 10 with or without polydactyly 11030072 ENSG00000274286 ADRA2B 24114805 607876 "Epilepsy, myoclonic, familial adult, 2" 11701600 ENSG00000117650 NEK2 24043777 615565 Retinitis pigmentosa 67 10932196 ENSG00000119699 TGFB3 23824657 615582 Loeys-Dietz syndrome 5 10807574 ENSG00000100075 SLC25A1 23561848 615182 Combined D-2- and L-2-hydroxyglutaric aciduria 10963100 ENSG00000162065 TBC1D24 23343562 615338 "Epileptic encephalopathy, early infantile" 10741954 ENSG00000078401 EDN1 23315542 615706 Auriculocondylar syndrome 3 11045585 ENSG00000137812 KNL1 22983954 604321 "Microcephaly 4, primary, autosomal recessive" 10521316 ENSG00000114354 TFG 22883144 604484 "Hereditary motor and sensory neuropathy, Okinawa type" 10545038 ENSG00000129757 CDKN1C 22634751 614732 IMAGE syndrome 10599684 ENSG00000100288 CHKB 21665002 602541 "Muscular dystrophy, congenital, megaconial type" 9427222 ENSG00000162769 FLVCR1 21070897 609033 "Ataxia, posterior column, with retinitis pigmentosa" 9409377 ENSG00000121957 GPSM2 20602914 604213 Chudley-McCullough syndrome 9024571 ENSG00000187049 TMEM216 20036350 608091 Joubert syndrome 2 9373798 ENSG00000165474 GJB2 10633135 148350 "Keratoderma, palmoplantar, with deafness" 2956987 ENSG00000137731 FXYD2 11062458 154020 "Hypomagnesemia 2, renal" 3298795 ENSG00000198400 NTRK1 10443680 155240 "Medullary thyroid carcinoma, familial" 3697657 ENSG00000137074 APTX 11586299 208920 "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" 3239952 ENSG00000160801 PTH1R 9649554 215045 "Chondrodysplasia, Blomstrand type" 3975110 ENSG00000091409 ITGA6 7545057 226730 "Epidermolysis bullosa, junctional, with pyloric stenosis" 6177243 ENSG00000132470 ITGB4 7545057 226730 "Epidermolysis bullosa, junctional, with pyloric atresia" 6177243 ENSG00000169071 ROR2 10932186 268310 "Robinow syndrome, autosomal recessive" 3631143 ENSG00000015285 WAS 11242115 300299 "Neutropenia, severe congenital, X-linked" 3284030 ENSG00000102001 CACNA1F 16505158 300476 "Cone-rod dystrophy, X-linked, 3" 8288262 ENSG00000165288 BRWD3 17668385 300659 "Mental retardation, X-linked 93" 7943039 ENSG00000022267 FHL1 18274675 300718 "Reducing body myopathy, X-linked 1b, with late childhood or adult onset" 7709723 ENSG00000091536 MYO15A 17851452 600316 "Deafness, autosomal recessive 3" 7704031 ENSG00000100697 DICER1 19556464 601200 Pleuropulmonary blastoma 8636815 ENSG00000168056 LTBP3 19344874 601216 Dental anomalies and short stature 8721563 ENSG00000105755 ETHE1 14732903 602473 Ethylmalonic encephalopathy 1683940 ENSG00000119718 EIF2B2 11704758 603896 Ovarioleukodystrophy 3239951 ENSG00000145191 EIF2B5 11704758 603896 Ovarioleukodystrophy 3239951 ENSG00000164266 SPINK1 12011155 608189 Tropical calcific pancreatitis 2813331 ENSG00000168263 KCNV2 16909397 610356 Retinal cone dystrophy 3B 8333273 ENSG00000171105 INSR 2544998 610549 "Diabetes mellitus, insulin-resistant, with acanthosis nigricans" 176581 ENSG00000169218 RSPO1 17072299 610644 Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal 8475082 ENSG00000169218 RSPO1 17041600 610644 Palmoplantar hyperkeratosis and true hermaphroditism 8475082 ENSG00000185920 PTCH1 11941477 610828 Holoprosencephaly 7 2688166 ENSG00000151067 CACNA1C 15655131 611875 Brugada syndrome 3 1309182 ENSG00000119392 GLE1 18204449 611890 "Arthrogryposis, lethal, with anterior horn cell disease" 7821908 ENSG00000276045 ORAI1 16582901 612782 Immunodeficiency 9 8167687 ENSG00000167323 STIM1 19420366 612783 Immunodeficiency 10 8921403 ENSG00000257017 HP 9463309 614081 Anhaptoglobinemia 3981086 ENSG00000257017 HP 9463309 614081 Hypohaptoglobinemia 3981086 ENSG00000211592 IGKC 3931219 614102 Kappa light chain deficiency 4117311 ENSG00000014919 COX15 12474143 615119 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, " 2175025 ENSG00000109911 ELP4 17679951 617141 Aniridia 2 8032206 ENSG00000136068 FLNB 14991055 108721 "Atelosteogenesis, type III" 2368807 ENSG00000116957 TBCE 12389028 241410 Hypoparathyroidism-retardation-dysmorphism syndrome "Sanjad, S., Sakati, N., Abu-Osba, Y. Congenital hypoparathyroidism with dysmorphic features: a new syndrome. (Abstract) Pediat. Res. 23: 271A, 1988." ENSG00000151090 THRB 2510172 188570 Thyroid hormone resistance "Lamberg, B. A., Sandstrom, R., Rosegard, S., Saarinen, P., Evered, D. C. Sporadic and familial partial peripheral resistance to thyroid hormones.In: Harland, W. A.; Orr, J. S. : Thyroid Hormone Metabolism. London: Academic Press (pub.) 1975. Pp. 139-161." ENSG00000105141 CASP14 27494380 617320 "Ichthyosis, congenital, autosomal recessive 12" 12780701 ENSG00000062598 ELMO2 27476657 606893 "Vascular malformation, primary intraosseous" 11932989 ENSG00000112312 GMNN 26637980 616835 Meier-Gorlin syndrome 6 11477602 ENSG00000197467 COL13A1 26626625 616720 "Myasthenic syndrome, congenital, 19" 11583983 ENSG00000109320 NFKB1 26279205 616576 "Immunodeficiency, common variable, 12" 11583829 ENSG00000015532 XYLT2 26027496 605822 Spondyloocular syndrome 11260210 ENSG00000104365 IKBKB 24369075 615592 Immunodeficiency 15 10195897 ENSG00000176022 B3GALT6 23664117 615349 "Ehlers-Danlos syndrome, progeroid type, 2" 10506123 ENSG00000131174 COX7B 23122588 300887 Linear skin defects with multiple congenital anomalies 2 9747372 ENSG00000105647 PIK3R2 22729224 603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 9788554 ENSG00000166813 KIF7 22587682 607131 Al-Gazali-Bakalinova syndrome 9689990 ENSG00000167371 PRRT2 22120146 602066 "Convulsions, familial infantile, with paroxysmal choreoathetosis" 9382100 ENSG00000179855 GIPC3 21326233 601869 "Deafness, autosomal recessive 15" 9286457 ENSG00000157540 DYRK1A 21294719 614104 "Mental retardation, autosomal dominant 7" 9106547 ENSG00000100368 CSF2RB 21075760 614370 "Surfactant metabolism dysfunction, pulmonary, 5" 9410898 ENSG00000186847 KRT14 16960809 125595 "Dermatopathia pigmentosa reticularis," 1303619 ENSG00000244734 HBB 1186896 141749 Hereditary persistence of fetal hemoglobin 14006447 ENSG00000081479 LRP2 17632512 222448 Donnai-Barrow syndrome 8266995 ENSG00000124275 MTRR 9501215 236270 "Homocystinuria-megaloblastic anemia, cbl E type" 6511919 ENSG00000160957 RECQL4 12952869 266280 RAPADILINO syndrome 2801769 ENSG00000108733 PEX12 15184617 266510 Peroxisome biogenesis disorder 3B 2122101 ENSG00000159640 ACE 9350819 267430 Renal tubular dysgenesis 6638071 ENSG00000044090 CUL7 16142236 273750 3-M syndrome 1 2051454 ENSG00000154767 XPC 8298653 278720 "Xeroderma pigmentosum, group C" 487635 ENSG00000086758 HUWE1 18252223 300706 "Mental retardation, X-linked syndromic, Turner type" 7943042 ENSG00000085224 ATRX 7697714 301040 Alpha-thalassemia/mental retardation syndrome 6267462 ENSG00000131269 ABCB7 10196363 301310 "Anemia, sideroblastic, with ataxia" 4045952 ENSG00000147224 PRPS1 17701896 301835 Arts syndrome 8498830 ENSG00000010671 BTK 8013627 307200 Agammaglobulinemia and isolated hormone deficiency 7189577 ENSG00000004848 ARX 11889467 309510 Partington syndrome 3177452 ENSG00000125378 BMP4 19249007 600625 Orofacial cleft 11 8533798 ENSG00000173801 JUP 10902626 601214 Naxos disease 2945574 ENSG00000159216 RUNX1 10508512 601399 "Platelet disorder, familial, with associated myeloid malignancy" 3855665 ENSG00000111361 EIF2B1 11835386 603896 Leukoencephalopathy with vanishing white matter 3239951 ENSG00000171862 PTEN 15805158 605309 Macrocephaly/autism syndrome 1719811 ENSG00000015479 MATR3 19344878 606070 Amyotrophic lateral sclerosis 7847377 ENSG00000205336 ADGRG1 15044805 606854 "Polymicrogyria, bilateral frontoparietal" 2290486 ENSG00000140522 RLBP1 11868161 607476 Newfoundland rod-cone dystrophy 3377008 ENSG00000149925 ALDOA 2825199 611881 Glycogen storage disease XII 4788792 ENSG00000178235 SLITRK1 16224024 613229 Trichotillomania 2018177 ENSG00000101444 AHCY 15024124 613752 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 2380820 ENSG00000135517 MIP 10802646 615274 "Cataract 15, multiple types" 3456204 ENSG00000116748 AMPD1 1631143 615511 Myopathy due to myoadenylate deaminase deficiency 644316 ENSG00000081051 AFP 15280901 615969 Alpha-fetoprotein deficiency "Faucett, W. A., Greenberg, F., Rose, E., Alpert, E., Bancalari, L., Kardon, N. B., Mizjewski, G., Knight, G., Haddow, J. E. Congenital deficiency of alpha-fetoprotein. (Abstract) Am. J. Hum. Genet. 45 (suppl.): A259, 1989." ENSG00000145715 RASA1 14639529 608354 Capillary malformation-arteriovenous malformation "Mulliken, J. B., Young, A. E. (eds.). Vascular Birthmarks: Hemangiomas and Vascular Malformations. Philadelphia: W. B. Saunders Co. 1988." ENSG00000159267 HLCS 7842009 253270 Holocarboxylase synthetase deficiency "Saunders, M., Sweetman, L., Robinson, B., Roth, K., Kohn, S., Sherwood, G., Gravel, R. Multiple carboxylase defects and complementation studies in biotin responsive organicaciduria. (Abstract) Am. J. Hum. Genet. 31: 61A, 1979." ENSG00000174611 KY 27484770 617114 "Myopathy, myofibrillar, 7" 11136708 ENSG00000183763 TRAIP 26595769 616777 Seckel syndrome 9 11424145 ENSG00000143365 RORC 26160376 616622 Immunodeficiency 42 10963675 ENSG00000147955 SIGMAR1 26078401 605726 "Spinal muscular atrophy, distal, autosomal recessive, 2" 11117544 ENSG00000147274 RBMX 25256757 300238 "Mental retardation, X-linked, syndromic 11, Shashi type" 10677307 ENSG00000133937 GSC 24290375 602471 "Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities" 9475592 ENSG00000182004 SNRPE 23246290 615059 Hypotrichosis 11 9621144 ENSG00000157423 HYDIN 23022101 608647 "Ciliary dyskinesia, primary, 5" 9387968 ENSG00000165195 PIGA 22305531 300868 Multiple congenital anomalies-hypotonia-seizures syndrome 2 9307258 ENSG00000167371 PRRT2 22243967 605751 "Seizures, benign familial infantile, 2" 9579893 ENSG00000091482 SMPX 21549336 300066 "Deafness, X-linked 4" 8872482 ENSG00000120008 WDR11 20887964 614858 Hypogonadotropic hypogonadism 14 with or without anosmia 8825924 ENSG00000196839 ADA 6198631 102700 Severe combined immunodeficiency due to ADA deficiency 5366284 ENSG00000129991 TNNI3 12531876 115210 "Cardiomyopathy, familial restrictive, 1" 2977941 ENSG00000275410 HNF1B 9398836 137920 Renal cysts and diabetes syndrome 7151342 ENSG00000087237 CETP 2215607 143470 Hyperalphalipoproteinemia 171539 ENSG00000007372 PAX6 7668281 148190 Keratitis 7362501 ENSG00000100345 MYH9 10973259 153640 Fechtner syndrome 2981587 ENSG00000184058 TBX1 8733128 192430 Velocardiofacial syndrome 7243439 ENSG00000072778 ACADVL 7668252 201475 VLCAD deficiency 6774167 ENSG00000143815 LBR 12618959 215140 Greenberg skeletal dysplasia 3377005 ENSG00000130283 GDF1 14585638 217095 Double-outlet right ventricle 3341225 ENSG00000180053 NKX2-6 14585638 217095 Conotruncal heart malformations 3341225 ENSG00000183072 NKX2-5 14585638 217095 "Conotruncal heart malformations, variable" 3341225 ENSG00000182173 TSEN54 18711368 225753 Pontocerebellar hypoplasia type 4 8480512 ENSG00000122787 AKR1D1 12970144 235555 "Bile acid synthesis defect, congenital, 2" 3198770 ENSG00000150768 DLAT 16049940 245348 Pyruvate dehydrogenase E2 deficiency 2112155 ENSG00000110921 MVK 10369262 260920 Hyper-IgD syndrome2 6144826 ENSG00000110921 MVK 10369261 260920 Hyper-IgD syndrome2 6144826 ENSG00000151552 QDPR 2116088 261630 "Hyperphenylalaninemia, BH4-deficient, C" 49470 ENSG00000185960 SHOX 9140395 300582 "Short stature, idiopathic familial" 6954848 ENSG00000185960 SHOX 9140395 300582 "Short stature, idiopathic familial" 6954848 ENSG00000102145 GATA1 16783379 300835 "Anemia, X-linked, with/without neutropenia and/or platelet abnormalities" 1999341 ENSG00000177189 RPS6KA3 10319851 300844 "Mental retardation, X-linked 19" 6146889 ENSG00000004961 HCCS 16059943 309801 Linear skin defects with multiple congenital anomalies 1 2308157 ENSG00000126759 CFP 8530058 312060 "Properdin deficiency, X-linked" 6903190 ENSG00000091137 SLC26A4 9500541 600791 "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct" 6602318 ENSG00000135443 KRT85 16525032 602032 "Ectodermal dysplasia 4, hair/nail type" 1879585 ENSG00000115211 EIF2B4 14566705 603896 Ovarioleukodystrophy 3239951 ENSG00000142192 APP 2111584 605714 "Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants" 1190293 ENSG00000157766 ACAN 16080123 608361 "Spondyloepiphyseal dysplasia, Kimberley type" 1978986 ENSG00000017427 IGF1 8857020 608747 Growth retardation with deafness and mental retardation due to IGF1 deficiency 7024810 ENSG00000000971 CFH 9312129 609814 Complement factor H deficiency 6461667 ENSG00000152642 GPD1L 17967977 611777 Brugada syndrome 2 1309182 ENSG00000165995 CACNB2 17224476 611876 Brugada syndrome 4 1309182 ENSG00000170892 TSEN34 18711368 612390 Pontocerebellar hypoplasia type 2C 8147499 ENSG00000183044 ABAT 10407778 613163 GABA-transaminase deficiency 6148708 ENSG00000007314 SCN4A 10599760 613345 Hypokalemic periodic paralysis type 2 6325904 ENSG00000137869 CYP19A1 8265607 613546 Aromatase deficiency 162557 ENSG00000119711 ALDH6A1 10947204 614105 Methylmalonate semialdehyde dehydrogenase deficiency 3939535 ENSG00000136574 GATA4 17643447 614430 Atrioventricular septal defect 4 1534968 ENSG00000184500 PROS1 10063989 614514 "Thrombophilia due to protein S deficiency, autosomal recessive" 6239877 ENSG00000113580 NR3C1 1704018 615962 Glucocorticoid resistance 186477 ENSG00000157131 C8A 9759902 613790 "C8 deficiency, type I" "Marcus, D., Spira, T. J., Petersen, B. H., Raum, D., Alper, C. A. There are two unlinked genetic loci for human C8. (Abstract) Molec. Immun. 19: 1385 only, 1982." ENSG00000122966 CIT 27453578 617090 "Microcephaly 17, primary, autosomal recessive" 11086988 ENSG00000135341 MAP3K7 27426733 617137 Frontometaphyseal dysplasia 2 10706363 ENSG00000113013 HSPA9 26598328 616854 Even-plus syndrome 10424819 ENSG00000166341 DCHS1 26258302 607829 Mitral valve prolapse 2 10387935 ENSG00000107404 DVL1 25817016 616331 "Robinow syndrome, autosomal dominant 2" 10319206 ENSG00000205899 BHLHA9 25466284 609432 "Syndactyly, mesoaxial synostotic, with phalangeal reduction" 9783716 ENSG00000186073 C15orf41 23716552 615631 "Dyserythropoietic anemia, congenital, type Ib" 9220189 ENSG00000120094 HOXB1 22770981 614744 "Facial paresis, hereditary congenital, 3" 8898234 ENSG00000169599 NFU1 21944046 605711 Multiple mitochondrial dysfunctions syndrome 1 7606932 ENSG00000165078 CPA6 21922598 614418 "Febrile seizures, familial, 11" 8730286 ENSG00000130816 DNMT1 21532572 614116 "Neuropathy, hereditary sensory, type IE" 7898717 ENSG00000213892 CEACAM16 21368133 614614 "Deafness, autosomal dominant 4B" 7655461 ENSG00000111199 TRPV4 20037588 606071 "Hereditary motor and sensory neuropathy, type Iic" 8179305 ENSG00000203883 SOX18 12740761 137940 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 3435166 ENSG00000112619 PRPH2 8251014 169150 "Macular dystrophy, patterned, 1" 843272 ENSG00000124299 PEPD 1972707 170100 Prolidase deficiency 4828441 ENSG00000167207 NOD2 11528384 186580 Blau syndrome 4056967 ENSG00000077782 FGFR1 11173846 190440 Trigonocephaly 1 6741996 ENSG00000091140 DLD 8506365 246900 Dihydrolipoamide dehydrogenase deficiency 413089 ENSG00000092330 TINF2 18252230 268130 Revesz syndrome 1404302 ENSG00000162733 DDR2 19110212 271665 "Spondylometaepiphyseal dysplasia, short limb-hand type" 8434618 ENSG00000188641 DPYD 7832988 274270 "5-fluorouracil toxicity, Dihydropyrimidine dehydrogenase deficiency" 287571 ENSG00000169297 NR0B1 7951319 300018 "46XY sex reversal 2, dosage-sensitive" 567843 ENSG00000085224 ATRX 8630485 309580 "Mental retardation-hypotonic facies syndrome, X-linked" 6107045 ENSG00000036473 OTC 2983225 311250 Ornithine transcarbamylase deficiency 5779425 ENSG00000127980 PEX1 9398847 601539 Peroxisome biogenesis disorder 1B (NALD/IRD) 7287005 ENSG00000115414 FN1 18268355 601894 Glomerulopathy with fibronectin deposits 2 1544672 ENSG00000119509 INVS 12872123 602088 "Nephronophthisis 2, infantile" 2884728 ENSG00000070785 EIF2B3 15054402 603896 Leukoencephalopathy with vanishing white matter 3239951 ENSG00000115211 EIF2B4 15054402 603896 Leukoencephaly with vanishing white matter 3239951 ENSG00000244734 HBB 2563949 603902 "Thalassemia-beta, dominant inclusion-body" 4351905 ENSG00000007168 PAFAH1B1 11754098 607432 Lissencephaly 1 3744365 ENSG00000007168 PAFAH1B1 11754098 607432 Subcortical laminar heterotopia 3744365 ENSG00000162337 LRP5 12579474 607634 "Osteopetrosis, autosomal dominant 1" 3588909 ENSG00000117595 IRF6 18836445 608864 Orofacial cleft 6 1642245 ENSG00000184937 WT1 17853480 608978 Meacham syndrome 1844355 ENSG00000177697 CD151 15265795 609057 Nephropathy with pretibial epidermolysis bullosa and deafness 3412548 ENSG00000120729 MYOT 15111675 609200 "Myopathy, myofibrillar, 3" 3275904 ENSG00000163161 ERCC3 2167179 610651 "Xeroderma pigmentosum, group B" 4811796 ENSG00000186895 FGF3 17236138 610706 "Deafness, congenital with inner ear agenesis, microtia, and microdontia" 2044484 ENSG00000105711 SCN1B 18464934 612838 Brugada syndrome 5 1309182 ENSG00000105711 SCN1B 18464934 612838 "Cardiac conduction defect, nonspecific" 1309182 ENSG00000156873 PHKG2 8896567 613027 Glycogen storage disease Ixc 6931596 ENSG00000064835 POU1F1 1302000 613038 "Pituitary hormone deficiency, combined, 1" 1271194 ENSG00000175538 KCNE3 19122847 613119 Brugada syndrome 6 1309182 ENSG00000177469 CAVIN1 19726876 613327 "Lipodystrophy, congenital generalized, type 4" 8313629 ENSG00000167114 SLC27A4 19631310 608649 Ichthyosis prematurity syndrome "Anton-Lamprecht, I. The skin.In: Papadimitriou, J. M.; Henderson, D. W.; Spagnolo, D. V. (eds.) : Diagnostic Ultrastructure of Non-neoplastic Diseases. Edinburgh: Churchill Livingstone 1992. Pp. 459-550." ENSG00000053747 LAMA3 12915477 245660 Laryngoonychocutaneous syndrome "Shabbir, G., Hassan, M., Kazmi, A. Laryngo-onycho-cutaneous syndrome: a study of 22 cases. Biomedica 2: 15-25, 1986." ENSG00000107815 TWNK 12459258 271245 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) "Kallio, A.-K., Jauhiainen, T. A new syndrome of ophthalmoplegia, hypoacusis, ataxia, hypotonia and athetosis (OHAHA). Adv. Audiol. 3: 84-90, 1985." ENSG00000150787 PTS 8178819 261640 "Hyperphenylalaninemia, BH4-deficient, A" "Rey, F., Harpey, J.-P., Leeming, R. J., Blair, J. A., Aicardi, J., Rey, J. Les hyperphenylalaninemies avec activite normale de la phenylalanine-hydroxylase: le deficit en tetrahydrobiopterine et le deficit en dihydropteridine reductase. Arch. Franc. Pediat. 34 (suppl. 2): 109-120, 1977." ENSG00000205899 BHLHA9 27041388 607539 "Camptosynpolydactyly, complex" 10096595 ENSG00000059573 ALDH18A1 26320891 616603 "Cutis laxa, autosomal dominant 3" 9643297 ENSG00000101194 SLC17A9 25180256 616063 "Porokeratosis 8, disseminated superficial actinic type" 9188872 ENSG00000138346 DNA2 24389050 615807 Seckel syndrome 8 9128935 ENSG00000130489 SCO2 23643385 608908 Myopia 6 9021311 ENSG00000111678 C12orf57 23453665 218340 Temtamy syndrome 8818452 ENSG00000107147 KCNT1 23086397 614959 "Epileptic encephalopathy, early infantile, 14" 7555952 ENSG00000198690 FAN1 22772369 614817 "Interstitial nephritis, karyomegalic" 7847351 ENSG00000046651 OFD1 22619378 300424 Retinitis pigmentosa 23 7611300 ENSG00000214960 ISPD 22522420 614643 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" 7604843 ENSG00000141527 CARD14 22521418 602723 Psoriasis 2 7562968 ENSG00000145675 PIK3R1 22351933 615214 "Agammaglobulinemia 7, autosomal recessive" 7705412 ENSG00000130816 DNMT1 22328086 604121 "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" 8747854 ENSG00000108883 EFTUD2 22305528 610536 "Mandibulofacial dysostosis, Guion-Almeida type" 7586653 ENSG00000141448 GATA6 22158542 600001 Pancreatic agenesis and congenital heart defects 8071961 ENSG00000147955 SIGMAR1 21842496 614373 Amyotrophic lateral sclerosis 16 juvenile 7807156 ENSG00000176715 ACSF3 21841779 614265 Combined malonic and methylmalonic aciduria 7537025 ENSG00000134569 LRP4 21471202 614305 Sclerosteosis 2 7891385 ENSG00000091651 ORC6 21358632 613803 Meier-Gorlin syndrome 3 7710253 ENSG00000109846 CRYAB 21337604 613869 "Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related" 8000975 ENSG00000127616 SMARCA4 20137775 613325 Rhabdoid tumor predisposition syndrome 2 8269278 ENSG00000166257 SCN3B 20031595 613120 Brugada syndrome 7 1309182 ENSG00000196839 ADA 3007108 102700 "Adenosine deaminase deficiency, partial" 5366284 ENSG00000175445 LPL 1975179 144250 "Combined hyperlipidemia, familial" 4718953 ENSG00000130675 MNX1 9843207 176450 Currarino syndrome 6789651 ENSG00000104447 TRPS1 11112658 190351 "Trichorhinophalangeal syndrome, type III" 6517098 ENSG00000149311 ATM 7792600 208900 Ataxia-telangiectasia 651946 ENSG00000164692 COL1A2 15077201 225320 "Ehlers-Danlos syndrome, cardiac valvular form" 2952379 ENSG00000170266 GLB1 1909089 230650 "GM1-gangliosidosis, type III" 4139552 ENSG00000170266 GLB1 1907800 230650 "GM1-gangliosidosis, type III" 4139552 ENSG00000137700 SLC37A4 9428641 232240 Glycogen storage disease Ic 6253473 ENSG00000104320 NBN 9590181 251260 Nijmegen breakage syndrome 7315300 ENSG00000104320 NBN 9590180 251260 Nijmegen breakage syndrome 7315300 ENSG00000110090 CPT1A 9691089 255120 "CPT deficiency, hepatic, type IA" 7014807 ENSG00000163554 SPTA1 1541680 266140 Pyropoikilocytosis 1191563 ENSG00000112294 ALDH5A1 9683595 271980 Succinic semialdehyde dehydrogenase deficiency 7226548 ENSG00000114374 USP9Y 8269511 415000 "Spermatogenic failure, Y-linked, 2" 1002136 ENSG00000134376 CRB1 10508521 600105 "Retinitis pigmentosa-12, autosomal recessive" 7055539 ENSG00000130402 ACTN4 10700177 603278 "Glomerulosclerosis, focal segmental, 1" 6229501 ENSG00000173085 COQ2 16400613 607426 "Coenzyme Q10 deficiency, primary, 1" 2928337 ENSG00000170099 SERPINA6 7061486 611489 Corticosteroid-binding globulin deficiency 14320983 ENSG00000115718 PROC 10942114 612304 "Thrombophilia due to protein C deficiency, autosomal recessive" 6139528 ENSG00000137674 MMP20 15744043 612529 "Amelogenesis imperfecta, type IIA2" 3150442 ENSG00000172426 RSPH9 19200523 612650 "Ciliary dyskinesia, primary, 12" 1601418 ENSG00000151929 BAG3 19085932 612954 "Myopathy, myofibrillar, 6" 1517757 ENSG00000138622 HCN4 19165230 613123 Brugada syndrome 8 1309182 ENSG00000198805 PNP 3029074 613179 Immunodeficiency due to purine nucleoside phosphorylase deficiency 5455521 ENSG00000113600 C9 9144525 613825 C9 deficiency 7430628 ENSG00000197766 CFD 11457876 613912 Complement factor D deficiency 6568950 ENSG00000171862 PTEN 11748304 276950 VATER association with macrocephaly and ventriculomegaly "Sujansky, E., Leonard, B. VACTERL association with hydrocephalus--a new recessive syndrome? (Abstract) Am. J. Hum. Genet. 35: 119A only, 1983" ENSG00000107165 TYRP1 8651291 203290 "Albinism, oculocutaneous, type III" "King, R. A., Cervenka, J., Okoro, A. N., Witkop, C. J., Jr. The brown albino: a new type of tyrosinase-positive oculocutaneous albinism. (Abstract) Am. J. Hum. Genet. 30: 56A only, 1978." ENSG00000108064 TFAM 27448789 617156 Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 9500544 ENSG00000113721 PDGFRB 26279204 601812 "Premature aging syndrome, Penttinen type" 9056558 ENSG00000160752 FDPS 26202976 616631 "Porokeratosis 9, multiple types" 9188872 ENSG00000167508 MVD 26202976 614714 "Porokeratosis 7, multiple types" 9188872 ENSG00000250479 CHCHD10 25193783 616209 "Myopathy, isolated mitochondrial, autosomal dominant" 9324076 ENSG00000105409 ATP1A3 24468074 601338 CAPOS syndrome 8733056 ENSG00000145868 FBXO38 24207122 615575 "Neuronopathy, distal hereditary motor, type IID" 7723957 ENSG00000152208 GRID2 23611888 616204 "Spinocerebellar ataxia, autosomal recessive 18" 7736576 ENSG00000100150 DEPDC5 23542697 604364 "Epilepsy, familial focal, with variable foci 1" 7895015 ENSG00000125826 RBCK1 23104095 615895 Polyglucosan body myopathy 1 with or without immunodeficiency 7971833 ENSG00000152822 GRM1 22901947 614831 "Spinocerebellar ataxia, autosomal recessive 13" 7969468 ENSG00000277399 GPR179 22325361 614565 "Night blindness, congenital stationary (complete), 1E, autosomal recessive" 8088964 ENSG00000101773 RBBP8 21998596 251255 Jawad syndrome 8434622 ENSG00000138738 PRDM5 21664999 614170 Brittle cornea syndrome 2 8458232 ENSG00000185811 IKZF1 21548011 616873 "Immunodeficiency, common variable, 13" 7923373 ENSG00000171453 POLR1C 21131976 248390 Treacher Collins syndrome 3 8362908 ENSG00000244486 SCARF2 20887961 600920 Van den Ende-Gupta syndrome 1609830 ENSG00000141448 GATA6 20581743 614474 Atrioventricular septal defect 5 1534968 ENSG00000111199 TRPV4 20037587 181405 Scapuloperoneal spinal muscular atrophy 1520078 ENSG00000131979 GCH1 7874165 128230 "Dystonia, DOPA-responsive, with or without hyperphenylalaninemia" 942621 ENSG00000151090 THRB 8381821 145650 "Thyroid hormone resistance, selective pituitary" 1159077 ENSG00000160789 LMNA 12927431 212112 Malouf syndrome 3993676 ENSG00000113889 KNG1 7901207 228960 Kininogen deficiency 1202089 ENSG00000114956 DGUOK 11687800 251880 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 6314875 ENSG00000177706 FAM20C 17924334 259775 Raine syndrome 2614802 ENSG00000186868 MAPT 11220749 260540 "Supranuclear palsy, progressive atypical" 6685236 ENSG00000259384 GH1 8552145 262650 Kowarski syndrome 263308 ENSG00000049860 HEXB 3017984 268800 "Sandhoff disease, infantile, juvenile, and adult forms" 5651108 ENSG00000198910 L1CAM 1303258 303350 MASA syndrome 4855169 ENSG00000182287 AP1S2 19377476 304340 "Mental retardation, X-linked syndromic 5" 2018058 ENSG00000183873 SCN5A 15466643 601154 "Cardiomyopathy, dilated, 1E" 3953067 ENSG00000154118 JPH3 15468075 606438 Huntington disease-like 2 2942452 ENSG00000112592 TBP 10484774 607136 Spinocerebellar ataxia 17 6937161 ENSG00000134371 CDC73 14585940 608266 Parathyroid carcinoma 3985291 ENSG00000066279 ASPM 12355089 608716 "Microcephaly 5, primary, autosomal recessive" 6745946 ENSG00000138435 CHRNA1 10195214 608930 "Myasthenic syndrome, congenital, 1B, fast-channel" 7254233 ENSG00000166548 TK2 11687801 609560 Mitochondrial DNA depletion syndrome 2 (myopathic type) 6314875 ENSG00000198821 CD247 16672702 610163 Immunodeficiency 25 3262828 ENSG00000110921 MVK 12563048 610377 Mevalonic aciduria 4053401 ENSG00000205413 SAMD9 16960814 610455 "Tumoral calcinosis, familial, normophosphatemic" 3366131 ENSG00000119042 SATB2 17377962 612313 Glass syndrome 2918541 ENSG00000166947 EPB42 1558976 612690 "Spherocytosis, type 5" 4830746 ENSG00000131018 SYNE1 17761684 612998 "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" 2685312 ENSG00000054654 SYNE2 17761684 612999 "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" 2685312 ENSG00000113522 RAD50 19409520 613078 Nijmegen breakage syndrome-like disorder 1887849 ENSG00000125730 C3 1976733 613779 C3 deficiency 4117597 ENSG00000103005 USB1 20004881 604173 Poikiloderma with neutropenia "Clericuzio, C., Hoyme, H. E., Aase, J. M. Immune deficient poikiloderma: a new genodermatosis. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 131 only, 1991." ENSG00000049239 H6PD 12858176 604931 Cortisone reductase deficiency 1 "Taylor, N. F., Bartlett, W. A., Dawson, D. J., Enoch, B. A. Cortisone reductase deficiency: evidence for a new inborn error in metabolism of adrenal steroids. (Abstract) J. Endocr. 102 (suppl.): A90, 1984." ENSG00000119899 SLC17A5 10581036 269920 "Sialic acid storage disorder, infantile" "Aula, P., Autio, S. Salla disease. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders. New York: Academic Press (pub.) 1980. Pp. 677-679." ENSG00000139219 COL2A1 8723097 271700 Spondyloperipheral dysplasia "Kelly, T. E., Lichtenstein, J. R., Dorst, J. P. An unusual familial spondyloepiphyseal dysplasia: 'spondyloperipheral dysplasia'. Birth Defects Orig. Art. Ser. XIII(3B): 149-165, 1977." ENSG00000205420 KRT6A 7545493 615726 Pachyonychia congenita 3 "Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. Syndromes of the Head and Neck. (2nd ed.) New York: McGraw-Hill (pub.) 1976. Pp. 600-603." ENSG00000163374 YY1AP1 27939641 602531 Grange syndrome 9489789 ENSG00000095139 ARCN1 27476655 617164 "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" 9021021 ENSG00000059573 ALDH18A1 26026163 601162 "Spastic paraplegia 9A, autosomal dominant" 8779323 ENSG00000186472 PCLO 25832664 608027 "Pontocerebellar hypoplasia, type 3" 8912329 ENSG00000163599 CTLA4 25329329 616100 "Autoimmune lymphoproliferative syndrome, type V" 7481803 ENSG00000163599 CTLA4 25213377 616100 "Autoimmune lymphoproliferative syndrome, type V" 7481803 ENSG00000198363 ASPH 24768550 601552 Traboulsi syndrome 8749053 ENSG00000071564 TCF3 24216514 616941 "Agammaglobulinemia 8, autosomal dominant" 8001124 ENSG00000161798 AQP5 23830519 600231 "Palmoplantar keratoderma, Bothnian type" 7531539 ENSG00000135454 B4GALNT1 23746551 609195 Spastic paraplegia 26 7864052 ENSG00000185963 BICD2 23664116 615290 "Spinal muscular atrophy, lower extremity-predominant, 2, AD" 8114789 ENSG00000011275 RNF216 23656588 212840 Cerebellar ataxia and hypogonadotropic hypogonadism 8114789 ENSG00000141404 GNAL 23222958 615073 Dystonia 25 8309575 ENSG00000080503 SMARCA2 22366787 601358 Nicolaides-Baraitser syndrome 8287185 ENSG00000178394 HTR1A 21990073 614674 "Periodic fever, menstrual cycle dependent" 7684743 ENSG00000117394 SLC2A1 21832227 601042 Dystonia 9 1575453 ENSG00000171385 KCND3 21349352 616399 Brugada syndrome 9 1309182 ENSG00000105610 KLF1 21055716 613673 "Dyserythropoietic anemia, congenital, type IV " 1659863 ENSG00000143217 NECTIN4 20691405 613573 Ectodermal dysplasia-syndactyly syndrome 1 1646587 ENSG00000144962 SPATA16 17847006 102530 Spermatogenic failure 6 3338587 ENSG00000074181 NOTCH3 8878478 125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 906807 ENSG00000021574 SPAST 9302257 182601 "Spastic paraplegia 4, autosomal dominant" 703033 ENSG00000213689 TREX1 17660820 192315 "Vasculopathy, retinal, with cerebral leukodystrophy" 3174024 ENSG00000117054 ACADM 2393404 201450 "Acyl-CoA dehydrogenase, medium chain, deficiency of" 5567005 ENSG00000131844 MCCC2 11181649 210210 3-Methylcrotonyl-CoA carboxylase 2 deficiency 7128647 ENSG00000140650 PMM2 9140401 212065 "Congenital disorder of glycosylation, type Ia" 685730 ENSG00000197535 MYO5A 9207796 214450 "Griscelli syndrome, type 1" 707528 ENSG00000197746 PSAP 8554069 249900 Metachromatic leukodystrophy due to SAP-b deficiency 15613 ENSG00000090581 GNPTG 10712439 252605 Mucolipidosis III gamma 6461005 ENSG00000108379 WNT3 14872406 273395 Tetra-amelia syndrome 4076260 ENSG00000005893 LAMP2 10972294 300257 Danon disease 6450334 ENSG00000022267 FHL1 18179888 300696 "Emery-Dreifuss muscular dystrophy 6, X-linked" 2685312 ENSG00000022267 FHL1 18179888 300696 "Myopathy, X-linked, with postural muscle atrophy" 2685312 ENSG00000157399 ARSE 7720070 302950 "Chondrodysplasia punctata, X-linked recessive" 993917 ENSG00000198814 GK 8651297 307030 Glycerol kinase deficiency 200232 ENSG00000102081 FMR1 9719368 311360 Premature ovarian failure 1 499583 ENSG00000131828 PDHA1 2537010 312170 Pyruvate dehydrogenase E1-alpha deficiency 4313434 ENSG00000138435 CHRNA1 7619526 601462 "Myasthenic syndrome, congenital, 1A, slow-channel" 1011024 ENSG00000145191 EIF2B5 17646634 603896 Leukoencephalopathy with vanishing white matter 3239951 ENSG00000136531 SCN2A 12243921 607745 "Seizures, benign familial infantile, 3" 6660252 ENSG00000112619 PRPH2 8485576 608161 "Macular dystrophy, vitelliform, 3" 4142662 ENSG00000127948 POR 14758361 613571 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 2932643 ENSG00000111716 LDHB 2334429 614128 Lactate dehydrogenase-B deficiency 5119336 ENSG00000198931 APRT 3680503 614723 Adenine phosphoribosyltransferase deficiency 5676523 ENSG00000175084 DES 9697706 601419 "Myopathy, myofibrillar, 1" "Clark, J. R., D'Agostino, A. N., Wilson, J., Brooks, R. R., Cole, G. C. Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics. (Abstract) Neurology 28: 399 only, 1978." ENSG00000168878 SFTPB 8163685 265120 "Surfactant metabolism dysfunction, pulmonary, 1" "Tsubura, E., Kawase, I., Yamamura, Y. Hereditary metabolic diseases of the lung. Rec. Med. 26: 1727 only, 1974. Note: Cited by: Webster et al.: Am. J. Med. 69: 786-789, 1980." ENSG00000200463 SNORD118 27571260 614561 "Leukoencephalopathy, brain calcifications, and cysts" 8628470 ENSG00000184634 MED12 23395478 300895 "Ohdo syndrome, X-linked" 8279489 ENSG00000164087 POC1A 22840364 614813 "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" 1632447 ENSG00000115935 WIPF1 22231303 614493 Wiskott-Aldrich syndrome 2 1515642 ENSG00000111199 TRPV4 20503319 184095 "SED, Maroteaux type" 2229114 ENSG00000183287 CCBE1 19935664 235510 Hennekam lymphangiectasia-lymphedema syndrome 1 2624276 ENSG00000064195 DLX3 10466415 104510 "Amelogenesis imperfecta, type IV" 292959 ENSG00000186081 KRT5 8799157 131960 Epidermolysis bullosa simplex-MP 939040 ENSG00000139219 COL2A1 9800905 132450 "Epiphyseal dysplasia, multiple, with myopia and deafness" 699354 ENSG00000007372 PAX6 8640214 136520 Foveal hypoplasia 1 1247409 ENSG00000165731 RET 16205644 155240 Medullary thyroid carcinoma 3697657 ENSG00000075239 ACAT1 1715688 203750 Alpha-methylacetoacetic aciduria 4143539 ENSG00000059377 TBXAS1 18264100 231095 Ghosal hematodiaphyseal syndrome 3385529 ENSG00000124615 MOCS1 9731530 252150 Molybdenum cofactor deficiency A 117254 ENSG00000005381 MPO 2462938 254600 Myeloperoxidase deficiency 5796360 ENSG00000196743 GM2A 1915858 272750 "GM2-gangliosidosis, AB variant" 5135907 ENSG00000156313 RPGR 10094550 300455 "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness" 450098 ENSG00000147155 EBP 10391219 302960 "Chondrodysplasia punctata, X-linked dominant" 535904 ENSG00000147155 EBP 10391218 302960 "Chondrodysplasia punctata, X-linked dominant" 535904 ENSG00000198910 L1CAM 7920660 303350 CRASH syndrome 4855169 ENSG00000198910 L1CAM 7920659 303350 CRASH syndrome 4855169 ENSG00000119899 SLC17A5 10581036 604369 Salla disease 420628 ENSG00000159921 GNE 11528398 605820 Nonaka myopathy 7252518 ENSG00000131697 NPHP4 12244321 606966 Nephronophthisis 4 7072145 ENSG00000030582 GRN 11220736 607485 "Aphasia, primary progressive" 7470845 ENSG00000030582 GRN 11220736 607485 Frontotemporal lobar degeneration with ubiquitin-positive inclusions 7470845 ENSG00000109846 CRYAB 9731540 608810 "Myopathy, myofibrillar, 2" 570292 ENSG00000138798 EGF 17671655 611718 "Hypomagnesemia 4, renal" 3436090 ENSG00000106992 AK1 2542324 612631 Hemolytic anemia due to adenylate kinase deficiency 4179026 ENSG00000148218 ALAD 2063868 612740 "Porphyria, acute hepatic" 4109097 ENSG00000102383 ZDHHC15 15915161 300577 "Mental retardation, X-linked 91" "Gustavson, K.-H., Anneren, G., Jagell, S. Prader-Willi syndrome in a child with a balanced (X;15) de novo translocation. Clin. Genet. 26: 245-247, 1984." ENSG00000088305 DNMT3B 10647011 242860 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 "Hulten, M. Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. (Abstract) Clin. Genet. 14: 294 only, 1978." ENSG00000073734 ABCB11 9326328 601847 "Cholestasis, progressive familial intrahepatic 2" "Sandor, T., Surinya, M., Monus, Z. Familial occurrence of giant cell hepatitis in infancy. Acta Hepatogastroent. (Stuttg.) 23: 101-104, 1976." ENSG00000125255 SLC10A2 9109432 613291 "Bile acid malabsorption, primary" "Hess Thaysen, E., Pedersen, L. Idiopathic bile acid catharis. Gut 17: 965-970, 1976." ENSG00000147257 GPC3 8589713 312870 "Simpson-Golabi-Behmel syndrome, type 1" "Simpson, J. L., Landey, S., New, M., German, J. A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975." ENSG00000176387 HSD11B2 7670488 218030 Apparent mineralocorticoid excess "Werder, E. A., Zachmann, M., Vollmin, J. A., Veyrat, R., Prader, A. Unusual steroid excretion in a child with low renin hypertension. Res. Steroids 6: 385-389, 1974" ENSG00000105607 GCDH 8541831 231670 "Glutaricaciduria, type I" "Goodman, S. I., Moe, P. G., Markey, S. P. Glutaric aciduria: a 'new' inborn error of amino acid metabolism. (Abstract) Am. J. Hum. Genet. 26: 36A, 1974." ENSG00000118520 ARG1 2365823 207800 Argininemia "Terheggen, H. G., Schwenk, A., Lowenthal, A., Van Sande, M., Colombo, J. P. Argininaemia with arginase deficiency. (Letter) Lancet 294: 748-749, 1969. Note: Originally Volume II." ENSG00000179163 FUCA1 2903667 230000 Fucosidosis "Durand, P., Philippart, M., Borrone, C., Della Cella, G. A new glycolipid storage disease. (Abstract) Pediat. Res. 1: 416 only, 1967." ENSG00000213398 LCAT 3338256 245900 Norum disease "Norum, K. R., Gjone, E. Familial plasma lecithin:cholesterol acyltransferase deficiency: biochemical study of a new inborn error of metabolism. Scand. J. Clin. Lab. Invest. 20: 231-243, 1967." ENSG00000177565 TBL1XR1 26769062 602342 Pierpont syndrome 7640861 ENSG00000067704 IARS2 25130867 616007 "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" 8409271 ENSG00000166341 DCHS1 24056717 601390 Van Maldergem syndrome 1 1633641 ENSG00000088256 GNA11 23802516 145981 "Hypocalciuric hypercalcemia, type II" 1517376 ENSG00000042753 AP2S1 23222959 600740 "Hypocalciuric hypercalcemia, type III" 1524075 ENSG00000187553 CYP26C1 23161670 614974 Focal facial dermal dysplasia 4 1401310 ENSG00000183638 RP1L1 20826268 613587 Occult macular dystrophy 2774037 ENSG00000132963 POMP 20226437 601952 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 2521286 ENSG00000244734 HBB 6179097 141749 Delta-beta thalassemia 14006447 ENSG00000141510 TP53 1978757 151623 Li-Fraumeni syndrome 5360287 ENSG00000135111 TBX3 9207801 181450 Ulnar-mammary syndrome 991870 ENSG00000141837 CACNA1A 8988170 183086 Spinocerebellar ataxia 6 990897 ENSG00000197299 BLM 3808032 210900 Bloom syndrome 5901336 ENSG00000197299 BLM 3808031 210900 Bloom syndrome 5901336 ENSG00000158158 CNNM4 19200527 217080 Jalili syndrome 3236352 ENSG00000141448 GATA6 19666519 217095 Persistent truncus arteriosus 3341225 ENSG00000104774 MAN2B1 9158146 248500 "Mannosidosis, alpha-, types I and II" 1008071 ENSG00000102805 CLN5 9662406 256731 "Ceroid lipofuscinosis, neuronal, 5" 193610 ENSG00000116704 SLC35D1 17952091 269250 Schneckenbecken dysplasia 3799723 ENSG00000154764 WNT7A 16826533 276820 "Ulna and fibula, absence of, with severe limb deficiency" 3981578 ENSG00000156313 RPGR 11857109 304020 "Cone-rod dystrophy, X-linked, 1" 6971088 ENSG00000160801 PTH1R 15525660 600002 Eiken syndrome 6734674 ENSG00000206561 COLQ 9689136 603034 "Myasthenic syndrome, congenital, 5" 214017 ENSG00000119718 EIF2B2 19625339 603896 Leukoencephalopathy with vanishing white matter 3239951 ENSG00000162711 NLRP3 12032915 607115 CINCA syndrome 7252669 ENSG00000198467 TPM2 11738357 609285 CAP myopathy 2 7196531 ENSG00000198467 TPM2 11738357 609285 "Nemaline myopathy 4, autosomal dominant" 7196531 ENSG00000112936 C7 8892662 610102 C7 deficiency 1099121 ENSG00000112936 C7 8871666 610102 C7 deficiency 1099121 ENSG00000178209 PLEC 14675180 612138 Epidermolysis bullosa simplex with pyloric atresia 7136614 ENSG00000087460 GNAS 11788646 612462 Pseudohypoparathyroidism Ic 6265935 ENSG00000181092 ADIPOQ 10918532 612556 Adiponectin deficiency 474565 ENSG00000111669 TPI1 2876430 615512 Hemolytic anemia due to triosephosphate isomerase deficiency 14242501 ENSG00000074047 GLI2 15994174 615849 Culler-Jones syndrome 6726521 ENSG00000105722 ERF 23354439 600775 Craniosynostosis 4 "McComb, J. G. Treatment of functional lambdoid synostosis. Neurosurg. Clin. North Am. 2: 665-672, 1991." ENSG00000161653 NAGS 12594532 237310 N-acetylglutamate synthase deficiency "Bachmann, C., Colombo, J. P., Jaggi, K. N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment. Adv. Exp. Med. Biol. 153: 39-46, 1981." ENSG00000086062 B4GALT1 11901181 607091 "Congenital disorder of glycosylation, type Iid" "Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980." ENSG00000182858 ALG12 11983712 607143 "Congenital disorder of glycosylation, type Ig" "Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980." ENSG00000008196 TFAP2B 10802654 169100 Char syndrome "Char, F. Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome? Birth Defects Orig. Art. Ser. XIV 6B: 303-305, 1978." ENSG00000196924 FLNA 9883725 300049 "Heterotopia, periventricular" "Nezelof, C., Jaubert, F., Lyon, G. Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports. Ann. Anat. Path. (Paris) 21: 401-412, 1976." ENSG00000073734 ABCB11 9806540 601847 "Cholestasis, progressive familial intrahepatic 2" "Sandor, T., Surinya, M., Monus, Z. Familial occurrence of giant cell hepatitis in infancy. Acta Hepatogastroent. (Stuttg.) 23: 101-104, 1976." ENSG00000185479 KRT6B 9618173 615728 Pachyonychia congenita 4 "Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. Syndromes of the Head and Neck. (2nd ed.) New York: McGraw-Hill (pub.) 1976. Pp. 600-603." ENSG00000104313 EYA1 9020840 113650 "Branchiootorenal syndrome 1, with or without cataracts" "Melnick, M., Bixler, D., Silk, K., Yune, H., Nance, W. E. Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig. Art. Ser. XI(5): 121-128, 1975." ENSG00000186575 NF2 7798645 162091 Schwannomatosis "Niimura, M. Neurofibromatosis. Rinsho Derma 15: 653-663, 1973." ENSG00000182492 BGN 27236923 300106 "Spondyloepimetaphyseal dysplasia, X-linked" 8064814 ENSG00000117724 CENPF 25564561 243605 Stromme syndrome 8261651 ENSG00000141759 TXNL4A 25434003 608572 Burn-McKeown syndrome 1342861 ENSG00000148408 CACNA1B 25296916 614860 Dystonia 23 8232359 ENSG00000148400 NOTCH1 25132448 616028 Adams-Oliver syndrome 5 1621771 ENSG00000196739 COL27A1 24986830 615155 Steel syndrome 8423186 ENSG00000113790 EHHADH 24401050 615605 Fanconi renotubular syndrome 3 1627757 ENSG00000141543 EIF4A3 24360810 268305 Robin sequence with cleft mandible and limb anomalies 1632438 ENSG00000149260 CAPN5 23055945 193235 "Vitreoretinopathy, neovascular inflammatory" 2234842 ENSG00000172534 HCFC1 23000143 309541 "Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )" 2378346 ENSG00000179348 GATA2 21670465 614172 Immunodeficiency 21 2543925 ENSG00000170876 TMEM43 21391237 614302 "Emery-Dreifuss muscular dystrophy 7, AD" 2685312 ENSG00000118004 COLEC11 21258343 265050 3MC syndrome 2 2569826 ENSG00000131183 SLC34A1 20335586 613388 Fanconi renotubular syndrome 2 2842681 ENSG00000105392 CRX 9390563 120970 Cone-rod retinal dystrophy-2 1201699 ENSG00000138083 SIX3 10369266 157170 Holoprosencephaly 2 891015 ENSG00000165280 VCP 15034582 167320 Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 7182974 ENSG00000148795 CYP17A1 2843762 202110 "17-alpha-hydroxylase/17,20-lyase deficiency" 4288776 ENSG00000213689 TREX1 16845398 225750 "Aicardi-Goutieres syndrome 1, dominant and recessive" 6712192 ENSG00000131808 FSHB 8220432 229070 Hypogonadotropic hypogonadism 24 without anosmia 5002675 ENSG00000051523 CYBA 2243141 233690 "Chronic granulomatous disease, autosomal, due to deficiency of CYBA" 4384563 ENSG00000164258 NDUFS4 9463323 252010 Mitochondrial complex I deficiency 947896 ENSG00000131238 PPT1 7637805 256730 "Ceroid lipofuscinosis, neuronal, 1" 4698309 ENSG00000183098 GPC6 19481194 258315 Omodysplasia 1 3591839 ENSG00000135744 AGT 16116425 267430 Renal tubular dysgenesis 6638071 ENSG00000143839 REN 16116425 267430 Renal tubular dysgenesis 6638071 ENSG00000144891 AGTR1 16116425 267430 Renal tubular dysgenesis 6638071 ENSG00000151835 SACS 10655055 270550 "Spastic ataxia, Charlevoix-Saguenay type" 647499 ENSG00000134574 DDB2 8798680 278740 "Xeroderma pigmentosum, group E, DDB-negative subtype" 4842087 ENSG00000269335 IKBKG 11047757 300291 "Ectodermal dysplasia, hypohidrotic, with immune deficiency" 117248 ENSG00000170113 NIPA1 14508710 600363 "Spastic paraplegia 6, autosomal dominant" 7310405 ENSG00000152457 DCLRE1C 12055248 602450 "Severe combined immunodeficiency, Athabascan type" 6105560 ENSG00000069974 RAB27A 10835631 607624 "Griscelli syndrome, type 2" 707528 ENSG00000165409 TSHR 7920658 609152 "Hyperthyroidism, nonautoimmune" 5068321 ENSG00000139053 PDE6H 15629837 610024 Achromatopsia 6 6601944 ENSG00000139053 PDE6H 15629837 610024 Retinal cone dystrophy 3 6601944 ENSG00000136104 RNASEH2B 16845400 610181 Aicardi-Goutieres syndrome 2 6712192 ENSG00000172922 RNASEH2C 16845400 610329 Aicardi-Goutieres syndrome 3 6712192 ENSG00000104889 RNASEH2A 16845400 610333 Aicardi-Goutieres syndrome 4 6712192 ENSG00000039537 C6 8690922 612446 C6 deficiency 11344568 ENSG00000272047 GTF2H5 15220921 616395 "Trichothiodystrophy 3, photosensitive" 7082576 ENSG00000213341 CHUK 20961246 613630 Cocoon syndrome "Stevenson, R. E., Saul, R. A., Collins, J., Davis, W. M., Lanford, C. Cocoon fetus--fetal encasement secondary to ectodermal dysplasia. Proc. Greenwood Genet. Center 6: 10-15, 1987." ENSG00000119699 TGFB3 15639475 107970 Arrhythmogenic right ventricular dysplasia 1 7053899 ENSG00000159063 ALG8 12480927 608104 "Congenital disorder of glycosylation, type Ih" "Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Eggermont, E., Eeckels, R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? (Abstract) Pediat. Res. (suppl.) 14: 179 only, 1980." ENSG00000134899 ERCC5 11228268 278780 "Xeroderma pigmentosum, group G/Cockayne syndrome" "Cheesbrough, M. J., Kinmont, P. D. S. Xeroderma pigmentosum--a unique variant with neurologic involvement. Brit. J. Derm. 99 (suppl. 16): 61 only, 1978." ENSG00000198626 RYR2 11208676 604772 "Ventricular tachycardia, catecholaminergic polymorphic, 1" "Coumel, P., Fidelle, J., Lucet, V., Attuel, P., Bouvrain, Y. Catecholaminergic-induced severe ventricular arrhythmias with Adams-Stokes syndrome in children: report of four cases. Brit. Heart J. 40 (suppl.): 28-37, 1978." ENSG00000144285 SCN1A 11359211 607208 "Epileptic encephalopathy, early infantile, 6" "Dravet, C. Les epilepsies graves de l'enfant. Vie Med 8: 543-548, 1978." ENSG00000161610 HCRT 10973318 161400 Narcolepsy 1 "Westphal, C. C. Eigenthumliche mit Einschafen verbundene Anfalle. Arch. Psychiat. Nervenkr. 7: 681-683, 1877." ENSG00000073282 TP63 10535733 106260 Hay-Wells syndrome "Hay, R. J., Wells, R. S. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Brit. J. Derm. 94: 287-289, 1976." ENSG00000135960 EDAR 10431241 129490 "Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" "Zanier, J. H. M., Roubicek, M. M. Hypohidrotic ectodermal dysplasia with autosomal dominant transmission. (Abstract) 5th International Congress of Human Genetics, Mexico City 1976. P. 108." ENSG00000004848 ARX 10353782 308350 "Epileptic encephalopathy, early infantile, 1" "Ohtahara, S., Ishida, T., Oka, E., Yamatogi, Y., Inoue, H., Karita, S., Ohtsuka, Y. On the specific age dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression-burst. No to Hattatsu 8: 270-279, 1976. Note: Article in Japanese." ENSG00000066468 FGFR2 9605588 207410 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis "Antley, R. M., Bixler, D. Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig. Art. Ser. XI(2): 397-401, 1975." ENSG00000157184 CPT2 8358442 255110 "CPT II deficiency, myopathic, stress-induced" "Bressler, R. Carnitine and the twins. (Editorial) New Eng. J. Med. 282: 745-746, 1970. [PubMed: 5416207, related citations] [Full Text]" ENSG00000139219 COL2A1 2543071 183900 SED congenita "Spranger, J. W., Wiedemann, H.-R. Dysplasia spondyloepiphysaria congenita. Helv. Paediat. Acta 21: 598-611, 1966." ENSG00000095380 NANS 27213289 610442 "Spondyloepimetaphyseal dysplasia, Camera-Genevieve type" 8152878 ENSG00000125676 THOC2 26166480 300957 "Mental retardation, X-linked 12/35" 1605217 ENSG00000086848 ALG9 25966638 263210 Gillessen-Kaesbach-Nishimura syndrome 8465860 ENSG00000143951 WDPCP 25427950 217085 "Congenital heart defects, hamartomas of tongue, and polysyndactyly" 1516223 ENSG00000175309 PHYKPL 23242558 615011 Phosphohydroxylysinuria 2387074 ENSG00000130741 EIF2S3 23063529 300987 "Mental retardation, X-linked, syndromic, Borck type" 2635712 ENSG00000136068 FLNB 14991055 112310 Boomerang dysplasia 7194471 ENSG00000107485 GATA3 10935639 146255 "Hypoparathyroidism, sensorineural deafness, and renal dysplasia" 874665 ENSG00000126522 ASL 7250970 207900 Argininosuccinic aciduria 13503250 ENSG00000064490 RFXANK 11313409 209920 "MHC class II deficiency, complementation group B" 650344 ENSG00000120054 CPN1 12560874 212070 Carboxypeptidase N deficiency 7437116 ENSG00000170266 GLB1 1909089 230600 "GM1-gangliosidosis, type II" 4173446 ENSG00000170266 GLB1 1907800 230600 "GM1-gangliosidosis, type II" 4173446 ENSG00000146085 MUT 1977311 251000 "Methylmalonic aciduria, mut(0) type" 6061291 ENSG00000167792 NDUFV1 10080174 252010 Mitochondrial complex I deficiency 947896 ENSG00000135677 GNS 12573255 252940 Mucopolysaccharidosis type IIID 6450420 ENSG00000085998 POMGNT1 11709191 253280 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" 581135 ENSG00000140443 IGF1R 14657428 270450 "Insulin-like growth factor I, resistance to" 6987254 ENSG00000185339 TCN2 7849710 275350 Transcobalamin II deficiency 5096637 ENSG00000137561 TTPA 2298915 277460 Ataxia with isolated vitamin E deficiency 6079812 ENSG00000102125 TAZ 8630491 302060 Barth syndrome 4685904 ENSG00000156925 ZIC3 9354794 306955 "Congenital heart defects, nonsyndromic, 1, X-linked " 4839027 ENSG00000156925 ZIC3 9354794 306955 "Heterotaxy, visceral, 1, X-linked " 4839027 ENSG00000184634 MED12 17369503 309520 Lujan-Fryns syndrome 6711603 ENSG00000169083 AR 2062380 313200 Spinal and bulbar muscular atrophy of Kennedy 4233749 ENSG00000136160 EDNRB 11891690 600501 "ABCD syndrome, " 397773 ENSG00000225830 ERCC6 15486090 600630 UV-sensitive syndrome 1 7264357 ENSG00000182533 CAV3 9537420 607801 "Muscular dystrophy, limb-girdle, type IC" 1146501 ENSG00000117601 SERPINC1 3055413 613118 Thrombophilia due to antithrombin III deficiency 14347873 ENSG00000027697 IFNGR1 10192386 615978 Immunodeficiency 1248490 ENSG00000156650 KAT6B 22265014 606170 Genitopatellar syndrome "Goldblatt, J., Wallis, C., Zieff, S. A syndrome of hypoplastic patellae, mental retardation, skeletal and genitourinary anomalies with normal chromosomes. Dysmorph. Clin. Genet. 2: 91-93, 1988." ENSG00000136068 FLNB 14991055 108720 "Atelosteogenesis, type I" "Rimoin, D. L., Sillence, D. O., Lachman, R. S., Jenkins, T., Riccardi, V. Giant cell chondrodysplasia: a second case of a rare lethal newborn skeletal dysplasia. (Abstract) Am. J. Hum. Genet. 32: 125A only, 1980." ENSG00000134899 ERCC5 11841555 278780 "Xeroderma pigmentosum, group G" "Cheesbrough, M. J., Kinmont, P. D. S. Xeroderma pigmentosum--a unique variant with neurologic involvement. Brit. J. Derm. 99 (suppl. 16): 61 only, 1978." ENSG00000142798 HSPG2 11279527 224410 "Dyssegmental dysplasia, Silverman-Handmaker type" "Handmaker, S. D., Robinson, L. D., Campbell, J. A., Chinwah, O., Gorlin, R. J. Dyssegmental dwarfism: a new syndrome of lethal dwarfism. Birth Defects Orig. Art. Ser. XIII(3D): 79-90, 1977." ENSG00000122691 TWIST1 10465122 180750 Robinow-Sorauf syndrome "Robinow, M., Sorauf, T. J. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects Orig. Art. Ser. XI(5): 99-106, 1975." ENSG00000183918 SH2D1A 9771704 308240 "Lymphoproliferative syndrome, X-linked, 1" "Purtilo, D. T., Cassel, C. K., Yang, J. P. S. Fatal infectious mononucleosis in familial lymphohistiocytosis. (Letter) New Eng. J. Med. 201: 736 only, 1974." ENSG00000038002 AGA 1904874 208400 Aspartylglucosaminuria "Jenner, F. A., Pollitt, R. J. Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem. J. 103: 48P-49P, 1967." ENSG00000038002 AGA 1703489 208400 Aspartylglucosaminuria "Jenner, F. A., Pollitt, R. J. Large quantities of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in the urine of mentally retarded siblings. Biochem. J. 103: 48P-49P, 1967." ENSG00000197249 SERPINA1 2696185 613490 Emphysema due to AAT deficiency "Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965." ENSG00000197249 SERPINA1 2696185 613490 "Emphysema-cirrhosis, due to AAT deficiency" "Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965." ENSG00000197249 SERPINA1 2696185 613490 Hemorrhagic diathesis due to antithrombin Pittsburgh "Eriksson, S. Studies in alpha 1-antitrypsin deficiency. Acta Med. Scand. 177 (suppl. 432): 1-85, 1965." ENSG00000115355 CCDC88A 28335020 260565 PEHO syndrome 8301648 ENSG00000105722 ERF 27738187 617180 Chitayat syndrome 8418638 ENSG00000127980 PEX1 26387595 234580 Heimler syndrome 1 2063923 ENSG00000144354 CDCA7 26216346 616910 Immunodeficiency-centromeric instability-facial anomalies syndrome 3 1999836 ENSG00000196365 LONP1 25574826 600373 CODAS syndrome 1887855 ENSG00000143473 KCNH1 25420144 611816 Temple-Baraitser syndrome 1785628 ENSG00000123104 ITPR2 25329695 106190 "Anhidrosis, isolated, with normal sweat glands" 2401610 ENSG00000152620 NADK2 24847004 616034 "2,4-dienoyl-CoA reductase deficiency" 2332510 ENSG00000184009 ACTG1 22366783 614583 Baraitser-Winter syndrome 2 3351890 ENSG00000178971 CTC1 22267198 612199 Cerebroretinal microangiopathy with calcifications and cysts 3402627 ENSG00000156650 KAT6B 22077973 603736 SBBYSS syndrome 3430551 ENSG00000109705 NKX3-2 20004766 613330 Spondylo-megaepiphyseal-metaphyseal dysplasia 3925497 ENSG00000101384 JAG1 9207788 118450 "Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome 1" 4712776 ENSG00000101384 JAG1 9207787 118450 "Deafness, congenital heart defects, and posterior embryotoxon, Alagille syndrome 1" 4712776 ENSG00000130175 PRKCSH 12577059 174050 Polycystic liver disease 1 508507 ENSG00000141646 SMAD4 15031030 175050 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 7372073 ENSG00000164093 PITX2 15591271 180550 Ring dermoid of cornea 7387508 ENSG00000090534 THPO 9425899 187950 Thrombocythemia 1 4365053 ENSG00000184937 WT1 1655284 194080 Denys-Drash syndrome 4292870 ENSG00000132464 ENAM 14684688 204650 Amelogenesis imperfecta type IC 284277 ENSG00000133111 RFXAP 12368908 209920 "Bare lymphocyte syndrome, type II, complementation group D" 650344 ENSG00000143390 RFX5 12368908 209920 "Bare lymphocyte syndrome, type II, complementation group E" 650344 ENSG00000143390 RFX5 12368908 209920 "Bare lymphocyte syndrome, type II, complementation group C" 650344 ENSG00000197375 SLC22A5 9916797 212140 "Carnitine deficiency, systemic primary" 234182 ENSG00000198331 HYLS1 15843405 236680 Hydrolethalus syndrome 7028327 ENSG00000087299 L2HGDH 15385440 236792 L-2-hydroxyglutaric aciduria 6787330 ENSG00000021826 CPS1 8486760 237300 Carbamoylphosphate synthetase I deficiency 5356974 ENSG00000083720 OXCT1 8751852 245050 "Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)" 4258782 ENSG00000155850 SLC26A2 8571951 256050 Atelosteogenesis II 4644462 ENSG00000155850 SLC26A2 8571951 256050 De la Chapelle dysplasia 4644462 ENSG00000189056 RELN 10973257 257320 Lissencephaly 2 (Norman-Roberts type) 175907 ENSG00000167642 SPINT2 19185281 270420 "Diarrhea 3, secretory sodium, congenital, syndromic" 2860286 ENSG00000139351 SYCP3 14643120 270960 Spermatogenic failure 4 574357 ENSG00000151090 THRB 1991834 274300 "Thyroid hormone resistance, autosomal recessive" 4163616 ENSG00000001626 CFTR 1359500 277180 Congenital bilateral absence of vas deferens 5657013 ENSG00000168216 LMBRD1 19136951 277380 "Methylmalonic aciduria and homocystinuria, cblF type" 4001945 ENSG00000147224 PRPS1 8253776 300661 "Gout, PRPS-related" 5782823 ENSG00000147224 PRPS1 8253776 300661 Phosphoribosylpyrophosphate synthetase superactivity 5782823 ENSG00000124479 NDP 8252044 305390 "Exudative vitreoretinopathy 2, X-linked" 5394449 ENSG00000102302 FGD1 7954831 305400 Aarskog-Scott syndrome 5504078 ENSG00000102302 FGD1 7954831 305400 "Mental retardation, X-linked syndromic " 5504078 ENSG00000139567 ACVRL1 8640225 600376 "Telangiectasia, hereditary hemorrhagic, type 2" 5037289 ENSG00000083937 CHMP2B 16041373 600795 "Dementia, familial, nonspecific" 7470845 ENSG00000116218 NPHS2 10742096 600995 "Nephrotic syndrome, type 2" 997538 ENSG00000025708 TYMP 9924029 603041 Mitochondrial DNA depletion syndrome 1 (MNGIE type) 1219124 ENSG00000107290 SETX 14770181 606002 "Spinocerebellar ataxia, autosomal recessive 1" 7214250 ENSG00000150995 ITPR1 17590087 606658 Spinocerebellar ataxia 15 6133167 ENSG00000198954 KIF1BP 15883926 609460 Goldberg-Shprintzen megacolon syndrome 7338549 ENSG00000108946 PRKAR1A 12213893 610489 "Pigmented nodular adrenocortical disease, primary, 1" 579530 ENSG00000117394 SLC2A1 18451999 612126 "GLUT1 deficiency syndrome 2, childhood onset" 6707673 ENSG00000122550 KLHL7 19520207 612943 Retinitis pigmentosa 42 3976802 ENSG00000183010 PYCR1 19648921 614438 "Cutis laxa, autosomal recessive, type IIIB" 4076251 ENSG00000096968 JAK2 15858187 614521 Thrombocythemia 3 7296002 ENSG00000096968 JAK2 15781101 614521 Thrombocythemia 3 7296002 ENSG00000090776 EFNB1 15124102 304110 Craniofrontonasal dysplasia "Slover, R., Sujansky, E. Frontonasal dysplasia with coronal craniosynostosis in three sibs. Birth Defects Orig. Art. Ser. XV(5B): 75-83, 1979." ENSG00000167654 ATCAY 14556008 601238 "Ataxia, cerebellar, Cayman type" "Johnson, W. G., Murphy, M., Murphy, W. I., Bloom, A. D. Recessive congenital cerebellar disorder in a genetic isolate: CPD type VII? Neurology (Abstract) 28: 352-353, 1978." ENSG00000115648 MLPH 12897212 609227 "Griscelli syndrome, type 3" "C. Griscelli and M. Prunieras: Pigment dilution and immunodeficiency: a new syndrome. International Journal of Dermatology, Philadelphia, December 1978, 17 (10): 788-791 " ENSG00000165474 GJB2 12072059 602540 Hystrix-like ichthyosis with deafness "Gulzow, J., Anton-Lamprecht, I. Ichthyosis hystrix gravior typus Rheydt: ein otologisch-dermatologisches syndrom. Laryng. Rhinol. Otol. (Stuttg.) 56: 949-955, 1977." ENSG00000116690 PRG4 10545950 208250 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome "Jacobs, J. C., Downey, J. A. Juvenile rheumatoid arthritis.In: Downey, J. A.; Low, N. L. (eds.) : The Child with Disabling Illness. Philadelphia: W. B. Saunders (pub.) 1974. Pp. 5-24." ENSG00000182871 COL18A1 8776601 267750 "Knobloch syndrome, type 1" "Knobloch, W. H., Layer, J. M. Retinal detachment and encephalocele. J. Pediat. Ophthal. 8: 181-184, 1971." ENSG00000204248 COL11A2 7859284 215150 Otospondylomegaepiphyseal dysplasia "Nance, W. E., Sweeney, A. A recessively inherited chondrodystrophy. Birth Defects Orig. Art. Ser. VI(4): 25-27, 1970." ENSG00000196767 POU3F4 7839145 304400 "Deafness, X-linked 2" "Nance, W. E., Sweeney, A., McLeod, A. C., Cooper, M. C. Hereditary deafness: a presentation of some recognized types, modes of inheritance, and aids in counseling. Sth. Med. Bull. 58: 41-57, 1970." ENSG00000184058 TBX1 8268909 188400 "Conotruncal anomaly face syndrome, DiGeorge syndrome" "DiGeorge, A. M. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. Birth Defects Orig. Art. Ser. IV(1): 116-121, 1968." ENSG00000130707 ASS1 3570300 215700 Citrullinemia "McMurray, W. C., Mohyuddin, F., Rossiter, R. J., Rathbun, J. C., Valentine, G. H., Koegler, S. J., Zarfas, D. E. Citrullinuria: a new aminoaciduria associated with mental retardation. Lancet 279: 138 only, 1962. Note: Originally Volume I." ENSG00000116957 TBCE 27666369 617207 "Encephalopathy, progressive, with amyotrophy and optic atrophy" 2022963 ENSG00000109775 UFSP2 26428751 142669 "Hip dysplasia, Beukes type, 14" 2389793 ENSG00000196159 FAT4 24913602 616006 Hennekam lymphangiectasia-lymphedema syndrome 2 2624276 ENSG00000166801 FAM111A 23684011 602361 Gracile bone dysplasia 3060039 ENSG00000140090 SLC24A4 23375655 615887 "Amelogenesis imperfecta, type IIA5" 3150442 ENSG00000160131 VMA21 23315026 310440 "Myopathy, X-linked, with excessive autophagy" 2897824 ENSG00000152223 EPG5 23222957 242840 Vici syndrome 3344762 ENSG00000072864 NDE1 22526350 605013 Microhydranencephaly 2884728 ENSG00000166147 FBN1 21683322 102370 Acromicric dysplasia 3728563 ENSG00000111199 TRPV4 20037588 600175 "Spinal muscular atrophy, distal, congenital nonprogressive" 4056805 ENSG00000075891 PAX2 7795640 120330 Papillorenal syndrome 5418855 ENSG00000154803 FLCN 12204536 135150 Birt-Hogg-Dube syndrome 596896 ENSG00000139219 COL2A1 14729840 151210 "Platyspondylic skeletal dysplasia, Torrance type" 448481 ENSG00000196712 NF1 1302608 193520 Watson syndrome 6025371 ENSG00000139352 ASCL1 14532329 209880 Haddad syndrome 713831 ENSG00000109132 PHOX2B 12640453 209880 "Central hypoventilation syndrome, congenital, with or without Hirschsprung disease" 713831 ENSG00000168621 GDNF 12640453 209880 Central hypoventilation syndrome 713831 ENSG00000171316 CHD7 15300250 214800 CHARGE syndrome 469662 ENSG00000165140 FBP1 7763253 229700 "Fructose-1,6-bisphosphatase deficiency" 4193749 ENSG00000160200 CBS 6711564 236200 "Homocystinuria, B6-responsive and nonresponsive types" 14418426 ENSG00000160200 CBS 6711564 236200 "Thrombosis, hyperhomocysteinemic" 14418426 ENSG00000115827 DCAF17 19026396 241080 Woodhouse-Sakati syndrome 6876115 ENSG00000128928 IVD 2063866 243500 Isovaleric acidemia 5229850 ENSG00000092067 CEBPE 10359588 245480 Specific granule deficiency 4129798 ENSG00000103227 LMF1 17994020 246650 "Lipase deficiency, combined" 6961921 ENSG00000198130 HIBCH 17160907 250620 3-hydroxyisobutryl-CoA hydrolase deficiency 7122152 ENSG00000158864 NDUFS2 11220739 252010 Mitochondrial complex I deficiency 947896 ENSG00000205138 SDHAF1 19465911 252011 Mitochondrial complex II deficiency 6318158 ENSG00000102145 GATA1 12200364 314050 "Thrombocytopenia with beta-thalassemia, X-linked" 871527 ENSG00000180902 D2HGDH 15609246 600721 D-2-hydroxyglutaric aciduria 6774165 ENSG00000140521 POLG 12565911 607459 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 632821 ENSG00000187498 COL4A1 16598045 607595 Brain small vessel disease with or without ocular anomalies 7257746 ENSG00000106804 C5 7730648 609536 C5 deficiency 5411128 ENSG00000101347 SAMHD1 19525956 612952 Aicardi-Goutieres syndrome 5 6712192 ENSG00000105220 GPI 8499925 613470 "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" 5672849 ENSG00000126562 WNK4 11498583 614491 "Pseudohypoaldosteronism, type IIB" 964728 ENSG00000105146 AURKC 17435757 243060 Spermatogenic failure 5 "German, J., Rasch, E. M., Huang, C. Y., MacLeod, J., Imperato-McGinley, J. Human infertility due to production of multiple-tailed spermatozoa with excessive amounts of DNA. (Abstract) Am. J. Hum. Genet. 33: 64A only, 1981." ENSG00000148090 AUH 12434311 250950 "3-methylglutaconic aciduria, type I" "Robinson, B. H., Sherwood, W. G., Lampty, M., Lowden, J. A. Beta-methyl glutaconic aciduria: a new disorder of leucine metabolism. (Abstract) Pediat. Res. 10: 371 only, 1976." ENSG00000103449 SALL1 9425907 107480 Townes-Brocks syndrome 4639228 ENSG00000105664 COMP 7670472 177170 Pseudoachondroplasia "Hall, J. G., Dorst, J. P. Pseudoachondroplastic SED, recessive Maroteaux-Lamy type. Birth Defects Orig. Art. Ser. V(4): 254-259, 1969." ENSG00000139219 COL2A1 8434604 108300 "Stickler syndrome, type I" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000188037 CLCN1 1379744 255700 "Myotonia congenita, recessive" "Becker, P. E. Zur Genetik der Myotonien.In: Kuhn, E. : Progressive Muskeldystrophie, Myotonie, Myasthenie. Berlin: Springer-Verlag (pub.) 1966. Pp. 247-255." ENSG00000113273 ARSB 1718978 253200 Mucopolysaccharidosis type VI (Maroteaux-Lamy) "Maroteaux, P., Lamy, M. Hurler's disease, Morquio's disease, and related mucopolysaccharidoses. J. Pediat. 67: 312-323, 1965." ENSG00000172331 BPGM 2542247 222800 Erythrocytosis due to bisphosphoglycerate mutase deficiency "Lohr, G. W., Waller, H. D. Zur Biochemie einiger angeborener haemolytischer Anaemien. Folia Haemat. 8: 377-397, 1963." ENSG00000126814 TRMT5 26189817 616539 Combined oxidative phosphorylation deficiency 2544623 ENSG00000148204 CRB2 25557780 219730 Ventriculomegaly with cystic kidney disease 2478019 ENSG00000180053 NKX2-6 24421281 217095 Persistent truncus arteriosus 3341225 ENSG00000128829 EIF2AK4 24292273 234810 Pulmonary venoocclusive disease 2 3382104 ENSG00000164961 WASHC5 24065355 220210 Ritscher-Schinzel syndrome 1 3812597 ENSG00000185482 STAC3 23736855 255995 Native American myopathy 3631569 ENSG00000109501 WFS1 23531866 116400 Cataract 41 3662912 ENSG00000131779 PEX11B 22581968 614920 Peroxisome biogenesis disorder 14B 3515938 ENSG00000104833 TUBB4A 21956287 128101 "Dystonia 4, torsion, autosomal dominant" 3156966 ENSG00000075702 WDR62 20890279 604317 "Microcephaly 2, primary, autosomal recessive, with or without cortical malformations " 6737015 ENSG00000186395 KRT10 20798280 609165 Ichthyosis with confetti 6529087 ENSG00000156925 ZIC3 20452998 314390 "VACTERL association, X-linked" 6335367 ENSG00000122861 PLAU 20007542 601709 Quebec platelet disorder 6480825 ENSG00000137203 TFAP2A 18423521 113620 Branchiooculofacial syndrome 7200726 ENSG00000131504 DIAPH1 9360932 124900 "Deafness, autosomal dominant 1" 5157378 ENSG00000171862 PTEN 9241266 153480 Bannayan-Riley-Ruvalcaba syndrome 5091590 ENSG00000004939 SLC4A1 1722314 166900 Ovalocytosis SA type 14314234 ENSG00000134376 CRB1 15623792 172870 Pigmented paravenous chorioretinal atrophy 434087 ENSG00000156970 BUB1B 15475955 176430 Premature chromatid separation trait 149087 ENSG00000073861 TBX21 9393345 208550 Asthma and nasal polyps 5155528 ENSG00000225830 ERCC6 10739753 214150 Cerebrooculofacioskeletal syndrome 1 4211825 ENSG00000156970 BUB1B 15475955 257300 Mosaic variegated aneuploidy syndrome 1 149087 ENSG00000092607 TBX15 19068278 260660 Cousin syndrome 7103674 ENSG00000100983 GSS 8896573 266130 Glutathione synthetase deficiency 5486400 ENSG00000011198 ABHD5 11590543 275630 Chanarin-Dorfman syndrome 1139147 ENSG00000130985 UBA1 18179898 301830 "Spinal muscular atrophy, X-linked 2, infantile" 7200838 ENSG00000104884 ERCC2 9195225 601675 "Trichothiodystrophy 1, photosensitive" 5120162 ENSG00000183873 SCN5A 10940383 603829 "Ventricular fibrillation, familial, 1" 4834245 ENSG00000175198 PCCA 3687944 606054 Propionicacidemia 13693094 ENSG00000182533 CAV3 11431690 606072 Rippling muscle disease 1146501 ENSG00000100311 PDGFB 3969118 607174 "Meningioma, SIS-related" 13621270 ENSG00000158014 SLC30A2 17065149 608118 "Zinc deficiency, transient neonatal" 7192074 ENSG00000039139 DNAH5 11788826 608644 "Ciliary dyskinesia, primary, 3, with or without situs inversus" 1084576 ENSG00000134259 NGF 14976160 608654 "Neuropathy, hereditary sensory and autonomic, type V" 77656 ENSG00000205403 CFI 8613545 610984 Complement factor I deficiency 4097977 ENSG00000105877 DNAH11 12142464 611884 "Ciliary dyskinesia, primary, 7, with or without situs inversus" 1084576 ENSG00000110711 AIP 25485838 219090 "Pituitary adenoma, ACTH-secreting" "Swinburn, B. A., Holdaway, I. M. Familial Cushing's disease. Aust. New Zeal. J. Med. 18: 169-171, 1988." ENSG00000138760 SCARB2 18308289 254900 "Epilepsy, progressive myoclonic 4, with or without renal failure" "Andermann, F., Andermann, E., Carpenter, S., Wolfe, L., Nelson, R., Patry, G., Boileau, J., Warren, Y., Barcelo, R. Action myoclonus--renal failure: a new autosomal recessive syndrome in three families. (Abstract) Sixth International Congress of Human Genetics, Jerusalem 1981. P. 199." ENSG00000101115 SALL4 12393809 607323 Duane-radial ray syndrome "Temtamy, S. A., Shoukry, A. S., Ghaly, I., El-Meligy, R., Boulos, S. Y. The Duane radial dysplasia syndrome: an autosomal dominant disorder. Birth Defects Orig. Art. Ser. XI(5): 344-345, 1975." ENSG00000111341 MGP 9916809 245150 Keutel syndrome "Keutel, J., Jorgensen, G., Gabriel, P. A new autosomal recessive syndrome: peripheral pulmonary stenoses, brachytelephalangism, neural hearing loss and abnormal cartilage calcifications-ossification. Birth Defects Orig. Art. Ser. VIII(5): 60-68, 1972." ENSG00000007933 FMO3 9398858 602079 Trimethylaminuria "Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J., O'Brien, D. Trimethylaminuria: the fish-odour syndrome. (Letter) Lancet 296: 770-771, 1970." ENSG00000125965 GDF5 8589725 201250 "Acromesomelic dysplasia, Hunter-Thompson type" "Hall, J. G. Peripheral dysostosis. Birth Defects Orig. Art. Ser. V(4): 371-372, 1969." ENSG00000065618 COL17A1 7550320 226650 "Epidermolysis bullosa, junctional, localisata variant" "Ridley, C. M., Levy, L. S. Epidermolysis bullosa and amyloidosis: a case report. Trans. St. John's Hosp. Derm. Soc. 54: 75-82, 1968." ENSG00000109063 MYH3 25957469 178110 "Arthrogryposis, distal, type 8" 2831369 ENSG00000013375 PGM3 24589341 615816 Immunodeficiency 23 3500672 ENSG00000156709 AIFM1 23217327 310490 Cowchock syndrome 3856385 ENSG00000070019 GUCY2C 22521417 614665 Meconium ileus 4006357 ENSG00000197822 OCLN 20727516 251290 Pseudo-TORCH syndrome 1 6876113 ENSG00000007372 PAX6 12721955 120430 Coloboma of optic nerve 945057 ENSG00000007372 PAX6 12721955 120430 Morning glory disc anomaly 945057 ENSG00000066468 FGFR2 8696350 123790 Beare-Stevenson cutis gyrata syndrome 5781468 ENSG00000106031 HOXA13 9020844 140000 "Hand-foot-uterus syndrome," 5417032 ENSG00000101115 SALL4 17256792 147750 IVIC syndrome 7395922 ENSG00000108946 PRKAR1A 10973256 160980 "Carney complex, type 1" 4729862 ENSG00000029534 ANK1 2675425 182900 "Spherocytosis, type 1" 14474766 ENSG00000120729 MYOT 16380616 182920 "Myopathy, spheroid body" 571956 ENSG00000204842 ATXN2 8896555 183090 Spinocerebellar ataxia 2 5808476 ENSG00000144659 SLC25A38 19412178 205950 "Anemia, sideroblastic, 2, pyridoxine-refractory" 7039309 ENSG00000112761 WISP3 10471507 208230 "Arthropathy, progressive pseudorheumatoid, of childhood" 4657332 ENSG00000112761 WISP3 10471507 208230 Spondyloepiphyseal dysplasia tarda with progressive arthropathy 4657332 ENSG00000001084 GCLC 10515893 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 5058793 ENSG00000178127 NDUFV2 12754703 252010 Mitochondrial complex I deficiency 947896 ENSG00000108395 TRIM37 10888877 253250 Mulibrey nanism 4124529 ENSG00000150753 CCT5 16399879 256840 "Neuropathy, hereditary sensory, with spastic paraplegia" 218673 ENSG00000102893 PHKB 9215682 261750 "Phosphorylase kinase deficiency of liver and muscle, autosomal recessive" 4322108 ENSG00000112964 GHR 8488849 262500 Laron dwarfism 5916640 ENSG00000114480 GBE1 9851430 263570 "Polyglucosan body disease, adult form" 4111956 ENSG00000122643 NT5C3A 11369620 266120 "Anemia, hemolytic, due to UMPH1 deficiency" 4372252 ENSG00000170734 POLH 10385124 278750 "Xeroderma pigmentosum, variant type" 5013606 ENSG00000147168 IL2RG 8462096 300400 "Severe combined immunodeficiency, X-linked" 5322671 ENSG00000196924 FLNA 12612583 304120 "Otopalatodigital syndrome, type II" 975599 ENSG00000196296 ATP2A1 8841193 601003 Brody myopathy 4239835 ENSG00000004864 SLC25A13 10369257 603471 Citrullinemia adult-onset type II 5057291 ENSG00000163069 SGCB 7581448 604286 "Muscular dystrophy, limb-girdle, type 2E" 5637795 ENSG00000132740 IGHMBP2 11528396 604320 "Neuronopathy, distal hereditary motor, type VI" 4809192 ENSG00000140368 PSTPIP1 11971877 604416 "Pyogenic sterile arthritis, pyoderma gangrenosum, and acne" 1165961 ENSG00000099377 HSD3B7 11067870 607765 "Bile acid synthesis defect, congenital, 1" 4795443 ENSG00000174469 CNTNAP2 16571880 610042 Cortical dysplasia-focal epilepsy syndrome "David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184." ENSG00000138375 SMARCAL1 11799392 242900 Schimke immunoosseous dysplasia "Schimke, R. N., Horton, W. A., King, C. R., Martin, N. L. Chondroitin-6-sulfate mucopolysaccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome. Birth Defects Orig. Art. Ser. X(12): 258-266, 1974." ENSG00000103449 SALL1 10928856 107480 Townes-Brocks branchiootorenal-like syndrome 4639228 ENSG00000011600 TYROBP 10888890 221770 Nasu-Hakola disease "Hakola, H. P. A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiat. Neurol. Scand. Suppl. 232: 1-173, 1972." ENSG00000116039 ATP6V1B1 9916796 267300 Renal tubular acidosis with deafness "Nance, W. E., Sweeney, A. Evidence for autosomal recessive inheritance of the syndrome of renal tubular acidosis with deafness. Birth Defects Orig. Art. Ser. VII(4): 70-72, 1971." ENSG00000101871 MID1 9354791 300000 "Opitz GBBB syndrome, type I" "Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. The G syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 95-101, 1969." ENSG00000204248 COL11A2 7859284 184840 "Stickler syndrome, type III" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000108479 GALK1 7670469 230200 Galactokinase deficiency with cataracts "Gitzelmann, R. Hereditary galactokinase deficiency, a newly recognized cause of juvenile cataracts. Pediat. Res. 1: 14-23, 1967." ENSG00000100170 SLC5A1 2008213 606824 Glucose/galactose malabsorption "Lindquist, B., Meeuwisse, G. W., Melin, K. Osmotic diarrhoea in genetically transmitted glucose-galactose malabsorption. Acta Paediat. 52: 217-219, 1963." ENSG00000131187 F12 2882793 234000 Factor XII deficiency "McCain, K. F., Chernoff, A. I., Graham, J. B. Establishment of the inheritance of Hageman defect as an autosomal recessive trait.In: Brinkhous, K. M. : Hemophilia and Other Hemorrhagic States. Chapel Hill: Univ. of North Carolina Press (pub.) 1959. Pp. 179-191." ENSG00000142513 ACP4 27843125 617297 "Amelogenesis imperfecta, type IJ" 3150442 ENSG00000169375 SIN3A 27399968 613406 Witteveen-Kolk syndrome 3198122 ENSG00000113013 HSPA9 26491070 182170 "Anemia, sideroblastic, 4" 3653362 ENSG00000123384 LRP1 26142438 604093 Keratosis pilaris atrophicans 3654209 ENSG00000185624 P4HB 25683117 112240 Cole-Carpenter syndrome 1 3794889 ENSG00000175595 ERCC4 23623389 278760 "Xeroderma pigmentosum, type F/Cockayne syndrome" 3834095 ENSG00000126970 ZC4H2 23623388 314580 Wieacker-Wolff syndrome 4039531 ENSG00000160710 ADAR 23001123 615010 Aicardi-Goutieres syndrome 6 6712192 ENSG00000152104 PTPN14 20826270 613611 Choanal atresia and lymphedema 7158640 ENSG00000198677 TTC37 20176027 222470 Trichohepatoenteric syndrome 1 7073301 ENSG00000163914 RHO 2137202 136880 Retinitis punctata albescens 14459667 ENSG00000164690 SHH 8896572 142945 Holoprosencephaly 3 5647374 ENSG00000130164 LDLR 3549308 143890 "Hypercholesterolemia, familial" 13606151 ENSG00000187498 COL4A1 15905400 175780 Porencephaly 1 561341 ENSG00000066926 FECH 1755842 177000 "Protoporphyria, erythropoietic, autosomal recessive" 14072370 ENSG00000118873 RAB3GAP2 16532399 212720 Martsolf syndrome 677168 ENSG00000242110 AMACR 10655068 214950 "Bile acid synthesis defect, congenital, 4" 5064535 ENSG00000182197 EXT1 7726168 215300 Chondrosarcoma 6015756 ENSG00000174775 HRAS 16170316 218040 Congenital myopathy with excess of muscle spindles 907573 ENSG00000174775 HRAS 16170316 218040 Costello syndrome 907573 ENSG00000040531 CTNS 10556299 219900 "Cystinosis, late-onset juvenile or adolescent nephropathic" 5141767 ENSG00000087116 ADAMTS2 10417273 225410 "Ehlers-Danlos syndrome, type VIIC" 5289249 ENSG00000113889 KNG1 12576314 228960 High molecular weight kininogen deficiency 1202089 ENSG00000036828 CASR 791666 239200 "Hyperparathyroidism, neonatal" 18887540 ENSG00000145494 NDUFS6 15372108 252010 Mitochondrial complex I deficiency 947896 ENSG00000125356 NDUFA1 15293270 252010 Mitochondrial complex I deficiency 947896 ENSG00000213619 NDUFS3 14729820 252010 Mitochondrial complex I deficiency 947896 ENSG00000196811 CHRNG 16826531 265000 Escobar syndrome 655146 ENSG00000196811 CHRNG 16826520 265000 Escobar syndrome 655146 ENSG00000134595 SOX3 15800844 312000 "Panhypopituitarism, X-linked" 192503 ENSG00000155657 TTN 12145747 600334 "Tibial muscular dystrophy, tardive" 4855680 ENSG00000026103 FAS 7540117 601859 "Autoimmune lymphoproliferative syndrome, type IA" 4165068 ENSG00000026103 FAS 7540117 601859 Autoimmune lymphoproliferative syndrome 4165068 ENSG00000087460 GNAS 11067869 603233 Pseudohypoparathyroidism Ib 5011390 ENSG00000134853 PDGFRA 12660384 607685 "Hypereosinophilic syndrome, idiopathic, resistant to imatinib" 1090795 ENSG00000117385 P3H1 17277775 610915 "Osteogenesis imperfecta, type VIII" 458828 ENSG00000124491 F13A1 2895980 613225 Factor XIIIA deficiency 13724728 ENSG00000077782 FGFR1 23812909 615465 Hartsfield syndrome "Hartsfield, J. K., Jr., Bixler, D., DeMyer, W. E. Hypertelorism associated with holoprosencephaly and ectrodactyly. J. Clin. Dysmorph. 2: 27-31, 1984." ENSG00000167985 SDHAF2 19628817 601650 Paragangliomas 2 "van Baars, F. M. Glomustumoren et herediteit. Thesis: Catholic Univ. of Nijmegen (pub.) 1980." ENSG00000120659 TNFSF11 17632511 259710 "Osteopetrosis, autosomal recessive 2" "Burns, J., Kahler, S., Aylsworth, A. Osteopetrosis: the mild recessive form. (Abstract) Am. J. Hum. Genet. 30: 48A only, 1978." ENSG00000196628 TCF4 17436255 610954 Pitt-Hopkins syndrome "David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184." ENSG00000196628 TCF4 17436254 610954 Pitt-Hopkins syndrome "David Pitt and Ian Hopkins: A syndrome of mental retardation, wide mouth and intermittent overbreathing. Australian Paediatric Journal, Melbourne, 1978, 14 (3): 182-184." ENSG00000136068 FLNB 14991055 272460 Spondylocarpotarsal synostosis syndrome "Langer, L. O., Jr., Moe, J. H. A recessive form of congenital scoliosis different from spondylothoracic dysplasia. Birth Defects Orig. Art. Ser. XI(6): 83-86, 1975." ENSG00000198467 TPM2 12592607 108120 "Arthrogryposis multiplex congenita, distal, type 1" 4855665 ENSG00000111846 GCNT2 11739194 116700 Cataract 13 with adult i phenotype "Yamaguchi, H., Okubo, Y., Tanaka, M. A note on possible close linkage between the Ii blood locus and a congenital cataract locus. Proc. Jpn. Acad. 48: 625-628, 1972." ENSG00000128274 A4GALT 10993874 111400 NOR polyagglutination syndrome 4997730 ENSG00000128274 A4GALT 10747952 111400 NOR polyagglutination syndrome 4997730 ENSG00000060718 COL11A1 8872475 604841 "Stickler syndrome, type II" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000139219 COL2A1 7550321 184250 SMED Strudwick type "Kozlowski, K., Budzinska, A. Combined metaphyseal and epiphyseal dysostosis. Am. J. Radiol. 97: 21-30, 1966." ENSG00000198732 SMOC1 2119467 206920 Microphthalmia with limb anomalies "Waardenburg, P. J. Autosomally-recessive anophthalmia with malformations of the hands and feet. In: Waardenburg, P. J.; Franceschetti, A.; Klein, D.: Genetics and Ophthalmology. Vol. 1. Assen, The Netherlands: Royal Van Gorcum (pub.) 1961. P. 773" ENSG00000153113 CAST 25683118 616295 "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" 3527073 ENSG00000155961 RAB39B 25434005 311510 Waisman syndrome 4025396 ENSG00000090020 SLC9A1 25205112 616291 Lichtenstein-Knorr syndrome 3739762 ENSG00000167323 STIM1 24619930 185070 Stormorken syndrome 4085141 ENSG00000132716 DCAF8 24500646 610100 "Giant axonal neuropathy 2, autosomal dominant" 3859241 ENSG00000179456 ZBTB18 24193349 612337 "Mental retardation, autosomal dominant 22" 4073121 ENSG00000169604 ANTXR1 23602711 230740 GAPO syndrome 6507471 ENSG00000150995 ITPR1 22986007 117360 "Spinocerebellar ataxia 29, congenital nonprogressive" 6847426 ENSG00000108474 PIGL 22444671 280000 CHIME syndrome 6192719 ENSG00000117394 SLC2A1 21791420 608885 Stomatin-deficient cryohydrocytosis with neurologic defects 7174793 ENSG00000140968 IRF8 21524210 226990 "Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" 6279813 ENSG00000167548 KMT2D 20711175 147920 Kabuki syndrome 1 7277097 ENSG00000168542 COL3A1 3337712 130050 "Ehlers-Danlos syndrome, type IV" 14426851 ENSG00000112619 PRPH2 1749427 136880 Retinitis punctata albescens 14459667 ENSG00000204539 CDSN 12754508 146520 Hypotrichosis 2 4141628 ENSG00000100345 MYH9 11590545 153650 Epstein syndrome 5011389 ENSG00000095002 MSH2 8931714 158320 Muir-Torre syndrome 6020987 ENSG00000076242 MLH1 8751876 158320 Muir-Torre syndrome 6020987 ENSG00000179142 CYP11B2 8439335 203400 "Hypoaldosteronism, congenital, due to CMO I deficiency" 14250395 ENSG00000167634 NLRP7 16462743 231090 "Hydatidiform mole, recurrent, 1" 561314 ENSG00000116984 MTR 8968736 250940 "Homocystinuria-megaloblastic anemia, cblG complementation type" 5300832 ENSG00000164182 NDUFAF2 16200211 252010 Mitochondrial complex I deficiency 947896 ENSG00000023228 NDUFS1 15824269 252010 Mitochondrial complex I deficiency 947896 ENSG00000119401 TRIM32 11822024 254110 "Muscular dystrophy, limb-girdle, type 2H" 4269389 ENSG00000173599 PC 9585612 266150 Pyruvate carboxylase deficiency 5771860 ENSG00000188158 NHS 14564667 302350 Nance-Horan syndrome 4470901 ENSG00000137868 STRA6 17273977 601186 "Microphthalmia, isolated, with coloboma 8" 724287 ENSG00000137868 STRA6 17273977 601186 "Microphthalmia, syndromic 9" 724287 ENSG00000117560 FASLG 8787672 601859 "Autoimmune lymphoproliferative syndrome, type IB" 4165068 ENSG00000235718 MFRP 15976030 609549 Nanophthalmos 2 1258954 ENSG00000134323 MYCN 15821734 164280 Feingold syndrome 1 "Feingold, M. Case report 30. Synd. Ident. 3: 16-17, 1975." ENSG00000095970 TREM2 12080485 221770 Nasu-Hakola disease "Hakola, H. P. A. Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia. Acta Psychiat. Neurol. Scand. Suppl. 232: 1-173, 1972." ENSG00000270141 TERC 11574891 127550 "Dyskeratosis congenita, autosomal dominant 1" "Scoggins, R. B., Prescott, K. J., Asher, G. H., Blaylock, W. K., Bright, R. W. Dyskeratosis congenita with Fanconi-type anemia: investigations of immunologic and other defects. (Abstract) Clin. Res. 19: 409 only, 1971." ENSG00000136156 ITM2B 10781099 117300 "Dementia, familial Danish" "Stromgrem, E., Dalby, A., Dalby, M. A., Ranheim, B. Cataracts, deafness, cerebellar ataxia, psychosis, and dementia--a new syndrome. Acta Neurol. Scand. 46 (suppl. 43): 261-262, 1970." ENSG00000117479 SLC19A2 10391221 249270 Thiamine-responsive megaloblastic anemia syndrome "Rogers, L. E., Porter, F. S., Sidbury, J. B., Jr. Thiamine-responsive megaloblastic anemia. J. Pediat. 74: 494-504, 1969." ENSG00000139531 SUOX 9428520 272300 Sulfite oxidase deficiency "Irreverre, F., Mudd, S. H., Heizer, W. D., Laster, L. Sulfite oxidase deficiency: studies of a patient with mental retardation, dislocated ocular lenses, and abnormal urinary excretion of S-sulfo-L-cysteine, sulfite and thiosulfate. Biochem. Med. 1: 187-199, 1967." ENSG00000177189 RPS6KA3 8955270 303600 Coffin-Lowry syndrome "Coffin, G. S., Siris, E., Wegienka, L. C. Mental retardation with osteocartilaginous anomalies. Am. J. Dis. Child. 112: 205-213, 1966." ENSG00000066230 SLC9A3 26358773 616868 "Diarrhea 8, secretory sodium, congenital" 3880821 ENSG00000115267 IFIH1 24686847 615846 Aicardi-Goutieres syndrome 7 6712192 ENSG00000125848 FLRT3 23643382 615271 Hypogonadotropic hypogonadism 6881209 ENSG00000158815 FGF17 23643382 615270 Hypogonadotropic hypogonadism 20 6881209 ENSG00000175206 NPPA 23275345 615745 Atrial standstill 2 6225642 ENSG00000130921 C12orf65 23188110 615035 "Spastic paraplegia 55, autosomal recessive" 6303658 ENSG00000069431 ABCC9 22608503 239850 Hypertrichotic osteochondrodysplasia 7076246 ENSG00000066468 FGFR2 7874169 101600 Craniofacial-skeletal-dermatologic dysplasia 14316612 ENSG00000077782 FGFR1 7874169 101600 Pfeiffer syndrome 14316612 ENSG00000182533 CAV3 10746614 123320 "Creatine phosphokinase, elevated serum" 5422556 ENSG00000114270 COL7A1 8618021 132000 "EBD, Bart type" 5910871 ENSG00000122863 CHST3 15215498 143095 Spondyloepiphyseal dysplasia with congenital joint dislocations 4814886 ENSG00000108821 COL1A1 6304100 166210 "Osteogenesis imperfecta, type II" 13139510 ENSG00000164692 COL1A2 6304100 166210 "Osteogenesis imperfecta, type II" 13139510 ENSG00000123700 KCNJ2 11371347 170390 Andersen syndrome 4106724 ENSG00000203859 HSD3B2 1363812 201810 "Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency" 13968789 ENSG00000132549 VPS13B 12730828 216550 Cohen syndrome 4717588 ENSG00000102743 SLC25A15 10369256 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome 5782534 ENSG00000159423 ALDH4A1 9700195 239510 "Hyperprolinemia, type II" 4972625 ENSG00000152592 DMP1 17033625 241520 "Hypophosphatemic rickets, AR" 180907 ENSG00000167306 MYO5B 18724368 251850 Microvillus inclusion disease 100367 ENSG00000196811 CHRNG 16826531 253290 "Multiple pterygium syndrome, lethal type" 933128 ENSG00000196811 CHRNG 16826520 253290 "Multiple pterygium syndrome, lethal type" 933128 ENSG00000115204 MPV17 16582910 256810 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 185990 ENSG00000166794 PPIB 19781681 259440 "Osteogenesis imperfecta, type IX" 458828 ENSG00000170289 CNGB3 10888875 262300 Achromatopsia 3 4192495 ENSG00000204217 BMPR2 12446270 265450 Pulmonary venoocclusive disease 1 4682413 ENSG00000143627 PKLR 1896471 266200 Pyruvate kinase deficiency 13924348 ENSG00000139351 SYCP3 19110213 270960 "Pregnancy loss, recurrent, 4" 574357 ENSG00000172062 SMN1 7658877 271150 Spinal muscular atrophy-4 14295959 ENSG00000171100 MTM1 8640223 310400 "Myotubular myopathy, X-linked" 4954227 ENSG00000177192 PUS1 15108122 600462 "Myopathy, lactic acidosis, and sideroblastic anemia 1" 4364695 ENSG00000120708 TGFBI 9054935 602082 "Corneal dystrophy, Thiel-Behnke type" 5301630 ENSG00000162430 SELENON 11528383 602771 "Muscular dystrophy, rigid spine, 1" 5115748 ENSG00000164951 PDP1 15855260 608782 Pyruvate dehydrogenase phosphatase deficiency 172850 ENSG00000115525 ST3GAL5 15502825 609056 Salt and pepper developmental regression syndrome 4213132 ENSG00000159023 EPB41 3755799 611804 Elliptocytosis-1 13313518 ENSG00000119888 EPCAM 18572020 613217 "Diarrhea 5, with tufting enteropathy, congenital" 100367 ENSG00000074410 CA12 21035102 143860 "Hyperchlorhidrosis, isolated" "Greenburg, F., Schidlow, D., Palmer, N., Huang, N. Isolated hyperchlorhidrosis without evidence of cystic fibrosis in two brothers, a possible autosomal recessive trait. (Abstract) Am. J. Hum. Genet. 31: 73A only, 1979." ENSG00000107796 ACTA2 17994018 611788 "Aortic aneurysm, familial thoracic 6" "Bixler, D., Antley, R. M. Familial aortic dissection with iris anomalies--a new connective tissue disease syndrome? Birth Defects Orig. Art. Ser. XII(5): 229-234, 1976." ENSG00000046651 OFD1 16783569 300209 "Simpson-Golabi-Behmel syndrome, type 2" "J. L. Simpson, S. Landey, M. New, J. German: A previously unrecognized X-linked syndrome of dysmorphia. Birth Defects Original Article Series, New York, 1975, XI(2): 18-24" ENSG00000184056 VPS33B 15052268 208085 "Arthrogryposis, renal dysfunction, and cholestasis 1" "Lutz-Richner, A. R., Landolt, R. F. Familiaere Gallengangmissbildungen mit tubulaerer Niereninsuffizienz. Helv. Paediat. Acta 28: 1-12, 1973." ENSG00000178209 PLEC 11851880 131950 "Epidermolysis bullosa simplex, Ogna type" "Gedde-Dahl, T., Jr. Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study. Baltimore: Johns Hopkins Press (pub.) 1971." ENSG00000134595 SOX3 12428212 300123 "Mental retardation, X-linked, with isolated growth hormone deficiency" "Phelan, P. D., Connelly, J., Martin, F. I. R., Wettenhall, H. N. B. X-linked recessive hypopituitarism. Birth Defects Orig. Art. Ser. VII(6): 24-27, 1971." ENSG00000138796 HADH 11489939 609975 "Hyperinsulinemic hypoglycemia, familial, 4" "Gotlin, R. W., Silver, H. K. Neonatal hypoglycaemia, hyperinsulinism, and absence of pancreatic alpha-cells. (Letter) Lancet 295: 1346 only, 1970." ENSG00000159921 GNE 10330343 269921 Sialuria "Fontaine, G., Biserte, G., Montreuil, A., Dupont, A., Farriaux, J. P. La sialurie: un trouble metabolique original. Helv. Paediat. Acta 23 (suppl. XVII): 1-32, 1968." ENSG00000135636 DYSF 9731526 254130 Miyoshi muscular dystrophy 1 "Miyoshi, K., Saijo, K., Kuryu, T., Tada, Y., Otsuka, Y., Oshima, Y., Nakano, N., Kawai, H., Miyake, M., Okazawa, T., Kohama, T., Kunishige, A. Four cases of distal myopathy in two families. Jpn. J. Hum. Genet. 12: 113, 1967." ENSG00000168447 SCNN1B 7954808 177200 Liddle syndrome "Liddle, G. W., Bledsoe, T., Coppage, W. S., Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Assoc. Am. Phys. 76: 199-213, 1963." ENSG00000179142 CYP11B2 1594605 610600 "Hypoaldosteronism, congenital, due to CMO II deficiency" "Royer, P., Lestradet, H., de Menibus, C. H., Vermeil, G. Hypoaldosteronisme familial chronique a debut neo-natal. Ann. Paediat. 8: 133-138, 1961." ENSG00000042832 TG 1752952 274700 Thyroid dyshormonogenesis 3 "McGirr, E. M., Hutchison, J. H., Clement, W. E., Kennedy, J. S., Currie, A. R. Goitre and cretinism due to the production of an abnormal iodinated thyroid compound. Scot. Med. J. 5: 189-203, 1960." ENSG00000148180 GSN 2176164 105120 "Amyloidosis, Finnish type" "Klaus, E., Freyberger, E., Kavka, G., Vodicka, F. Familial occurrence of a bulbar paralytic form of amyotrophic lateral sclerosis with reticular corneal dystrophy and cutis hyperelastica in 3 sisters. Psychiat. Neurol. 138: 79-97, 1959." ENSG00000139219 COL2A1 26183434 616583 "Spondyloepiphyseal dysplasia, Stanescu type" 6430256 ENSG00000175213 ZNF408 23716654 616468 Exudative vitreoretinopathy 6 6897033 ENSG00000124813 RUNX2 23290074 156510 Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 7137223 ENSG00000147050 KDM6A 22197486 300867 Kabuki syndrome 2 7277096 ENSG00000079616 KIF22 22152677 603546 "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" 7209574 ENSG00000155755 TMEM237 22152675 614424 Joubert syndrome 14 7395917 ENSG00000178814 OPLAH 21651516 260005 5-oxoprolinase deficiency 6113726 ENSG00000139734 DIAPH3 20624953 609129 "Auditory neuropathy, autosomal dominant, 1" 223494 ENSG00000172987 HPSE2 20560209 236730 Urofacial syndrome 1 474623 ENSG00000134160 TRPM1 19878917 613216 "Night blindness, congenital stationary (complete), 1C, autosomal recessive" 308060 ENSG00000066468 FGFR2 7795583 101600 Pfeiffer syndrome 14316612 ENSG00000108821 COL1A1 2767050 130060 "Ehlers-Danlos syndrome, type VIIA" 13539092 ENSG00000164692 COL1A2 2767050 130060 "Ehlers-Danlos syndrome, type VIIB" 13539092 ENSG00000163554 SPTA1 3597773 130600 Elliptocytosis-2 13313518 ENSG00000066084 DIP2B 17236128 136630 "Mental retardation, FRA12A type" 1033912 ENSG00000134371 CDC73 12434154 145001 Hyperparathyroidism-jaw tumor syndrome 5279024 ENSG00000134371 CDC73 12434154 145001 Parathyroid adenoma with cystic changes 5279024 ENSG00000165474 GJB2 11918723 148210 Keratitis-ichthyosis-deafness syndrome 4119872 ENSG00000157404 KIT 10354021 154800 Mast cell disease 4235166 ENSG00000204248 COL11A2 7859284 184840 Weissenbacher-Zweymuller syndrome 14234962 ENSG00000148795 CYP17A1 9326943 202110 "17,20-lyase deficiency, isolated" 4288776 ENSG00000078070 MCCC1 11181649 210200 3-Methylcrotonyl-CoA carboxylase 1 deficiency 4194964 ENSG00000138075 ABCG5 11099417 210250 Sitosterolemia 5374042 ENSG00000143921 ABCG8 11099417 210250 Sitosterolemia 5374042 ENSG00000146648 EGFR 18948947 211980 "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in" 199100 ENSG00000139197 PEX5 7719337 214110 Peroxisome biogenesis disorder 2A (Zellweger) 14169466 ENSG00000242110 AMACR 12512044 214950 "Bile acid synthesis defect, congenital, 4" 5064535 ENSG00000173757 STAT5B 8977385 245590 Growth hormone insensitivity with immunodeficiency 5916640 ENSG00000137806 NDUFAF1 17557076 252010 Mitochondrial complex I deficiency 947896 ENSG00000196924 FLNA 17357080 300048 "Intestinal pseudoobstruction, neuronal" 1269170 ENSG00000102245 CD40LG 7679801 308230 "Immunodeficiency, X-linked, with hyper-IgM" 14451053 ENSG00000015285 WAS 7795648 313900 "Thrombocytopenia, X-linked" 14181113 ENSG00000015285 WAS 7795648 313900 "Thrombocytopenia, X-linked, intermittent" 14181113 ENSG00000124222 STX16 14561710 603233 "Pseudohypoparathyroidism, type IB" 5011390 ENSG00000099956 SMARCB1 19124645 609322 Rhabdoid predisposition syndrome 1 206343 ENSG00000143341 HMCN1 16020313 603075 "Macular degeneration, age-related, 1" "Streiff, E. B., Babel, J. La senescence de la retine. Prog. Ophthal. 13: 1-75, 1963." ENSG00000196218 RYR1 12719381 255320 Minicore myopathy with external ophthalmoplegia "Engel, A. G., Gomez, M. R., Groover, R. V. Multicore disease--a recognised congenital myopathy associated with multifocal degeneration of muscle fibres. Proc. Mayo Clin. 46: 661-681, 1971." ENSG00000081087 OSTM1 12627228 259720 "Osteopetrosis, autosomal recessive 5" "Brown, D. M., Dent, P. B. Pathogenesis of osteopetrosis: a comparison of human and animal spectra. Pediat. Res. 5: 181-191, 1971." ENSG00000157404 KIT 10362788 273300 Germ cell tumors "Hutter, A. M., Lynch, J. J., Shnider, B. I. Malignant testicular tumors in brothers: a case report. JAMA 199: 1009-1010, 1967." ENSG00000080493 SLC4A4 10545938 604278 "Renal tubular acidosis, proximal, with ocular abnormalities " "Soriano, J. R., Boichis, H., Stark, H., Edelmann, C. M., Jr. Proximal renal tubular acidosis: a defect in bicarbonate reabsorption with normal urinary acidification. Pediat. Res. 1: 81-98, 1967." ENSG00000184937 WT1 9529364 256370 "Nephrotic syndrome, type 4" "Rossenbeck, H. G., Margraf, O., Hofmann, D. Ueber das infantile nephrotische Syndrom bei kongenitaler Glomerulonephritis. Dtsch. Med. Wschr. 91: 348-355, 1966." ENSG00000114062 UBE3A 8988171 105830 Angelman syndrome "Angelman, H. 'Puppet children': a report of three cases. Dev. Med. Child Neurol. 7: 681-688, 1965." ENSG00000027697 IFNGR1 8960475 209950 Immunodeficiency "Engbaek, H. C. Three cases in the same family of fatal infection M. avium. Acta Tuberc. Scand. 45: 105-117, 1964." ENSG00000027697 IFNGR1 8960473 209950 Immunodeficiency "Engbaek, H. C. Three cases in the same family of fatal infection M. avium. Acta Tuberc. Scand. 45: 105-117, 1964." ENSG00000090402 SI 8609217 222900 "Sucrase-isomaltase deficiency, congenital" "Durand, P. Disorders Due to Intestinal Defective Carbohydrate Digestion and Absorption. Rome: Il Pensiero Scientifico (pub.) 1964." ENSG00000166828 SCNN1G 7550319 177200 Liddle syndrome "Liddle, G. W., Bledsoe, T., Coppage, W. S., Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans. Assoc. Am. Phys. 76: 199-213, 1963." ENSG00000181523 SGSH 7493035 252900 Mucopolysaccharidosis type IIIA (Sanfilippo A) "Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963." ENSG00000170315 UBB 8105683 119540 "Cleft palate, isolated" "Curtis, E. J., Fraser, F. C., Warburton, D. Congenital cleft lip and palate. Am. J. Dis. Child. 102: 853-857, 1961." ENSG00000007372 PAX6 1334370 106210 Aniridia 17948455 ENSG00000007372 PAX6 1334370 106210 Cataract with late-onset corneal dystrophy 17948455 ENSG00000149131 SERPING1 2723063 106100 "Angioedema, hereditary, types I and II" 13484317 ENSG00000136872 ALDOB 3383242 229600 Fructose intolerance "Chambers, R. A., Pratt, R. T. C. Idiosyncrasy to fructose. Lancet 268: 340 only, 1956. Note: Originally Volume II." ENSG00000185010 F8 2986011 306700 Hemophilia A "Alexander, B., Goldstein, R. Dual hemostatic defect in pseudohemophilia. (Abstract) J. Clin. Invest. 32: 551 only, 1953." ENSG00000178573 MAF 25865493 601088 Ayme-Gripp syndrome 6432966 ENSG00000181722 ZBTB20 25017102 259050 Primrose syndrome 6809950 ENSG00000088256 GNA11 23802516 615361 "Hypocalcemia, autosomal dominant 2" 6278146 ENSG00000115665 SLC5A7 23141292 158580 "Neuronopathy, distal hereditary motor, type VIIA" 7420092 ENSG00000179348 GATA2 21892158 614038 Emberger syndrome 295075 ENSG00000166813 KIF7 21633164 200990 Joubert syndrome 12 457430 ENSG00000166813 KIF7 21552264 200990 Acrocallosal syndrome 457430 ENSG00000112855 HARS2 21464306 614926 Perrault syndrome 2 517579 ENSG00000127241 MASP1 21035106 257920 3MC syndrome 1 690758 ENSG00000060718 COL11A1 21035103 228520 Fibrochondrogenesis 1 749746 ENSG00000152217 SETBP1 20436468 269150 Schinzel-Giedion midface retraction syndrome 665725 ENSG00000143627 PKLR 9090535 102900 "Adenosine triphosphate, elevated, of erythrocytes" 14300761 ENSG00000187098 MITF 8589691 103500 Tietz albinism-deafness syndrome 13985019 ENSG00000118271 TTR 6736244 105210 "Amyloidosis, hereditary, transthyretin-related" 12978172 ENSG00000152591 DSPP 12354781 125420 "Dentin dysplasia, type II" 5273848 ENSG00000103313 MEFV 10787449 134610 "Familial Mediterranean fever, AD" 5678100 ENSG00000177426 TGIF1 10835638 142946 Holoprosencephaly 4 5647374 ENSG00000005339 CREBBP 7630403 180849 Rubinstein-Taybi syndrome 1 13983033 ENSG00000064195 DLX3 9467018 190320 Trichodontoosseous syndrome 5906373 ENSG00000182533 CAV3 1975517 192600 "Cardiomyopathy, familial hypertrophic" 13499764 ENSG00000137700 SLC37A4 10931421 232220 Glycogen storage disease Ib 4300573 ENSG00000101247 NDUFAF5 18940309 252010 Mitochondrial complex 1 deficiency 947896 ENSG00000174886 NDUFA11 18306244 252010 Mitochondrial complex I deficiency 947896 ENSG00000135902 CHRND 18252226 253290 "Multiple pterygium syndrome, lethal type" 933128 ENSG00000138435 CHRNA1 18252226 253290 "Multiple pterygium syndrome, lethal type" 933128 ENSG00000121454 LHX4 11567216 262700 "Pituitary hormone deficiency, combined, 4" 4305958 ENSG00000107798 LIPA 8254026 278000 Cholesteryl ester storage disease 14008104 ENSG00000107798 LIPA 8254026 278000 Wolman disease 14008104 ENSG00000171365 CLCN5 8559248 300009 Dent disease 14169453 ENSG00000122145 TBX22 11559848 303400 Cleft palate with ankyloglossia 5771226 ENSG00000147383 NSDHL 10710235 308050 CHILD syndrome 5696317 ENSG00000184895 SRY 3690661 400044 46XY sex reversal 1 13250193 ENSG00000184895 SRY 9652903 400045 46XX sex reversal 1 4161595 ENSG00000105618 PRPF31 11545739 600138 Retinitis pigmentosa 11 5764686 ENSG00000130529 TRPM4 19726882 604559 "Progressive familial heart block, type IB" 897853 ENSG00000092054 MYH7 14520662 608358 "Myopathy, myosin storage, autosomal dominant" 4104682 ENSG00000171595 DNAI2 18950741 612444 "Ciliary dyskinesia, primary, 9, with or without situs inversus" 1084576 ENSG00000233608 TWIST2 26119818 209885 Barber-Say syndrome "Barber, N., Say, B., Bell, R. F., Merveille, O. C. Macrostomia, ectropion, atrophic skin, hypertrichosis, and growth retardation. Syndrome Ident. 8(1): 6-9, 1982." ENSG00000157933 SKI 23023332 182212 Shprintzen-Goldberg syndrome "Shprintzen, R. J., Goldberg, R. B. Dysmorphic facies, omphalocele, laryngeal and pharyngeal hypoplasia, spinal anomalies, and learning disabilities in a new dominant malformation syndrome. Birth Defects Orig. Art. Ser. XV(5B): 347-353, 1979." ENSG00000134760 DSG1 10332028 148700 "Keratosis palmoplantaris striata I, AD" "Bologna, E. I. Durch vier Generationenen dominant vererblich geschlechtsgebundene Keratosis palmaris striata (linearia). Derm. Wschr. 152: 446-457, 1966." ENSG00000081923 ATP8B1 9500542 211600 "Cholestasis, progressive familial intrahepatic 1" "Clayton, R. J., Iber, F. L., Ruebner, B. H., McKusick, V. A. Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. (Abstract) J. Pediat. 67: 1025-1028, 1965." ENSG00000143224 PPOX 8852667 176200 Porphyria variegata "Hunter, R., Macalpine, I. Three Hundred Years of Psychiatry: 1538-1860. A History Presented in Selected English Texts. London, England: Oxford Univ. Press (pub.) 1963." ENSG00000053918 KCNQ1 8528244 192500 Long QT syndrome 1 "Romano, C., Gemme, G., Pongiglione, R. Aritmie cardiache rare dell' eta pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. (Presentazione del primo caso della letteratura pediatrica Italiana.) Clin. Pediat. 45: 656-683, 1963." ENSG00000108784 NAGLU 8650226 252920 Mucopolysaccharidosis type IIIB (Sanfilippo B) "Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963." ENSG00000198947 DMD 3384440 300376 Becker muscular dystrophy "Becker, P. E., Kiener, F. Eine neue X-chromosomale Muskeldystrophie. Arch . Psychiatr. Nervenkr. Z. Gesamte Neurol. Scand. 193: 427-448, 1955." ENSG00000165821 SALL2 24412933 216820 "Coloboma, ocular, autosomal recessive" 7282780 ENSG00000243649 CFB 24152280 615561 Complement factor B deficiency 6898304 ENSG00000176022 B3GALT6 23664117 271640 "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" 7209574 ENSG00000112367 FIG4 23623387 216340 Yunis-Varon syndrome 7395825 ENSG00000095209 TMEM38B 23054245 615066 "Osteogenesis imperfecta, type XIV" 458828 ENSG00000206013 IFITM5 22863190 610967 "Osteogenesis imperfecta, type V" 458828 ENSG00000104763 ASAH1 22703880 159950 Spinal muscular atrophy with progressive myoclonic epilepsy 534421 ENSG00000075624 ACTB 22366783 243310 Baraitser-Winter syndrome 1 457136 ENSG00000168487 BMP1 22052668 614856 "Osteogenesis imperfecta, type XIII" 458828 ENSG00000163913 IFT122 20493458 218330 Cranioectodermal dysplasia 1 830894 ENSG00000157764 BRAF 16474404 115150 Cardiofaciocutaneous syndrome 4697981 ENSG00000184937 WT1 9398852 136680 Frasier syndrome 14149008 ENSG00000109099 PMP22 9818939 139393 "Neuropathy, inflammatory demyelinating" 4158808 ENSG00000120729 MYOT 10958653 159000 "Muscular dystrophy, limb-girdle, type 1A" 6053567 ENSG00000256269 HMBS 2563167 176000 "Porphyria, acute intermittent" 13354248 ENSG00000256269 HMBS 2563167 176000 "Porphyria, acute intermittent, nonerythroid variant" 13354248 ENSG00000184937 WT1 2163761 194070 "Wilms tumor, type 1" 13487328 ENSG00000126749 EMG1 19463982 211180 Bowen-Conradi syndrome "Bowen, P., Conradi, G. J. Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig. Art. Ser. XII(6): 101-108, 1976." ENSG00000127980 PEX1 9398847 214100 Peroxisome biogenesis disorder 1A (Zellweger) 14169466 ENSG00000154646 TMPRSS15 11719902 226200 Enterokinase deficiency 4180366 ENSG00000117308 GALE 9700591 230350 Galactose epimerase deficiency 5319435 ENSG00000123545 NDUFAF4 19463981 252010 Mitochondrial complex I deficiency 947896 ENSG00000178057 NDUFAF3 19463981 252010 Mitochondrial complex I deficiency 947896 ENSG00000141458 NPC1 9211849 257220 "Niemann-Pick disease, type C1" 17948490 ENSG00000115705 TPO 1401057 274500 Thyroid dyshormonogenesis 2A 13830735 ENSG00000047597 XK 8004674 300842 McLeod syndrome with or without chronic granulomatous disease 13860532 ENSG00000184634 MED12 17334363 305450 Opitz-Kaveggia syndrome 4365204 ENSG00000101981 F9 3001143 306900 Hemophilia B 12997790 ENSG00000165240 ATP7A 7731706 309400 Menkes disease 14472668 ENSG00000169057 MECP2 10508514 312750 Rett syndrome 5300597 ENSG00000169057 MECP2 10508514 312750 "Rett syndrome, atypical" 5300597 ENSG00000169057 MECP2 10508514 312750 "Rett syndrome, preserved speech variant" 5300597 ENSG00000166033 HTRA1 19387015 600142 CARASIL syndrome 971885 ENSG00000109501 WFS1 11709537 600965 "Deafness, autosomal dominant 6/14/38" 5663381 ENSG00000186868 MAPT 9029080 601104 "Supranuclear palsy, progressive" 14107684 ENSG00000113594 LIFR 14740318 601559 Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome 4105362 ENSG00000128573 FOXP2 11586359 602081 Speech-language disorder-1 5657070 ENSG00000235590 GNAS-AS1 15592469 603233 "Pseudohypoparathyroidism, type IB" 5011390 ENSG00000166349 RAG1 9630231 603554 Omenn syndrome 14328107 ENSG00000114054 PCCB 8188292 606054 Propionicacidemia 13693094 ENSG00000127415 IDUA 7550242 607015 Mucopolysaccharidosis Ih/s 14498144 ENSG00000127415 IDUA 7550242 607016 Mucopolysaccharidosis Is 14498144 ENSG00000119977 TCTN3 22883145 258860 Orofaciodigital syndrome IV "Temtamy, S. A., McKusick, V. A. The Genetics of Hand Malformations. New York: Alan R. Liss (pub.) 1978." ENSG00000127472 PLA2G5 22137173 228980 "Fleck retina, familial benign" "rill, A. E. Hereditary Retinal and Choroidal Diseases: Flecked Retina Disease. Vol. 2. Hagerstown: Harper and Row (pub.) 1977. Pp. 739-819." ENSG00000204655 MOG 21907016 614250 Narcolepsy 7 "Westphal, C. C. Eigenthumliche mit Einschafen verbundene Anfalle. Arch. Psychiat. Nervenkr. 7: 681-683, 1877." ENSG00000139679 LPAR6 18297072 278150 Hypotrichosis 8 "Hutchinson, P. E., Cairns, R. J., Wells, R. S. Woolly hair: clinical and general aspects. Trans. St. John's Hosp. Derm. Soc. 60: 160-177, 1974." ENSG00000139679 LPAR6 18297072 278150 "Woolly hair, autosomal recessive 1, with or without hypotrichosis" "Hutchinson, P. E., Cairns, R. J., Wells, R. S. Woolly hair: clinical and general aspects. Trans. St. John's Hosp. Derm. Soc. 60: 160-177, 1974." ENSG00000124370 MCEE 16752391 251120 Methylmalonyl-CoA epimerase deficiency "Kang, E. S., Snodgrass, P. J., Gerald, P. S. Methylmalonyl-CoA racemase defect: another cause of methylmalonic aciduria. (Abstract) Pediat. Res. 6: 393 only, 1972." ENSG00000154134 ROBO3 15105459 607313 "Gaze palsy, horizontal, with progressive scoliosis" "Dretakis, E. K. [Familial idiopathic scoliosis associated with congenital encephalopathy in three children of the same family]. Acta Orthop. Traumatol. Hellenica 22: 51-55, 1970." ENSG00000265107 GJA5 12522116 108770 "Atrial standstill, digenic (GJA5/SCN5A)" 16188595 ENSG00000053747 LAMA3 11810295 226650 "Epidermolysis bullosa, generalized atrophic benign" "Ridley, C. M., Levy, L. S. Epidermolysis bullosa and amyloidosis: a case report. Trans. St. John's Hosp. Derm. Soc. 54: 75-82, 1968." ENSG00000091262 ABCC6 10835643 177850 "Pseudoxanthoma elasticum, forme fruste" "Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471." ENSG00000091262 ABCC6 10835642 177850 "Pseudoxanthoma elasticum, forme fruste" "Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471." ENSG00000091262 ABCC6 10811882 177850 "Pseudoxanthoma elasticum, forme fruste" "Wise, D. Hereditary disorders of connective tissues.In: Gottron, H.; Schnyder, U. : Vererbung von Hautkrankheiten. Berlin: Springer-Verlag (pub.) 1966. P. 471." ENSG00000075043 KCNQ2 9430594 121200 Myokymia "Rett, A., Teubel, R. Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie. Wien. Klin. Wschr. 76: 609-613, 1964." ENSG00000075043 KCNQ2 9430594 121200 "Seizures, benign neonatal, 1" "Rett, A., Teubel, R. Neugeborenenkraempfe im Rahmen einer epileptisch belasteten Familie. Wien. Klin. Wschr. 76: 609-613, 1964." ENSG00000204386 NEU1 8985184 256550 "Sialidosis, type I" "Sanfilippo, S. J., Yunis, J. J., Worthen, H. G. An unusual storage disease resembling the Hurler-Hunter syndrome. (Abstract) Am. J. Dis. Child. 104: 553 only, 1962." ENSG00000204386 NEU1 8985184 256550 "Sialidosis, type II" "Sanfilippo, S. J., Yunis, J. J., Worthen, H. G. An unusual storage disease resembling the Hurler-Hunter syndrome. (Abstract) Am. J. Dis. Child. 104: 553 only, 1962." ENSG00000074803 SLC12A1 8640224 601678 "Bartter syndrome, type 1" "F. C. Bartter, P. Pronove, J. R. Gill Jr, R. C. MacCardle: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. American Journal of Medicine, New York, 1962, 33: 811-828." ENSG00000068078 FGFR3 7670477 146000 Hypochondroplasia "Lamy, M., Maroteaux, P. Les Chondrodystrophies Genotypiques. Paris: L'Expansion Scientifique Francaise (pub.) 1961. P. 26." ENSG00000185231 MC2R 8227361 202200 "Glucocorticoid deficiency, due to ACTH unresponsiveness" "Shepard, T. H., Landing, B. H., Mason, D. G. Familial Addison's disease. Case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. Am. J. Dis. Child. 97: 154-162, 1959." ENSG00000185231 MC2R 8094489 202200 "Glucocorticoid deficiency, due to ACTH unresponsiveness" "Shepard, T. H., Landing, B. H., Mason, D. G. Familial Addison's disease. Case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. Am. J. Dis. Child. 97: 154-162, 1959." ENSG00000155850 SLC26A2 1345170 222600 Diastrophic dysplasia "Mau, H. Wesen und Bedeutung der enchondralen Dysostosen. Stuttgart: Georg Thieme Verlag (pub.) 1958. P. 108ff." ENSG00000155850 SLC26A2 1345170 222600 "Diastrophic dysplasia, broad bone-platyspondylic variant" "Mau, H. Wesen und Bedeutung der enchondralen Dysostosen. Stuttgart: Georg Thieme Verlag (pub.) 1958. P. 108ff." ENSG00000188690 UROS 2331520 263700 "Porphyria, congenital erythropoietic" "Watson, C. J., Perman, V., Spurrell, F. A., Hoyt, H. H., Schwartz, S. Some studies of the comparative biology of human and bovine porphyria erythropoietica. Trans. Assoc. Am. Phys. 71: 196-209, 1956." ENSG00000163631 ALB 3353369 616000 Analbuminemia "Bennhold, H., Peters, H., Roth, E. Ueber einen Fall von kompletter Analbuminaemie ohne wesentliche klinische Krankheitszeichen. Verh. Dtsch. Ges. Inn. Med. 60: 630-634, 1954." ENSG00000167468 GPX4 24706940 250220 "Spondylometaphyseal dysplasia, Sedaghatian type" 7211944 ENSG00000115657 ABCB6 23180570 609153 "Pseudohyperkalemia, familial, 2, due to red cell leak" 89283 ENSG00000173175 ADCY5 22782511 606703 "Dyskinesia, familial, with facial myokymia" 152174 ENSG00000065135 GNAI3 22560091 602483 Auriculocondylar syndrome 1 694432 ENSG00000118777 ABCG2 22246507 614490 Junior blood group system 567888 ENSG00000110074 FOXRED1 20818383 252010 Mitochondrial complex I deficiency 1027147 ENSG00000151413 NUBPL 20818383 252010 Mitochondrial complex I deficiency 1027147 ENSG00000169105 CHST14 20004762 601776 "Ehlers-Danlos syndrome, musculocontractural type 1" 1184396 ENSG00000160801 PTH1R 19061984 125350 "Failure of tooth eruption, primary" 4851123 ENSG00000182197 EXT1 7550340 133700 "Exostoses, multiple, type 1" 13754517 ENSG00000204843 DCTN1 19136952 168605 Perry syndrome 1122173 ENSG00000115474 KCNJ13 18179896 193230 Snowflake vitreoretinal degeneration 4812083 ENSG00000197969 VPS13A 11381253 200150 Choreoacanthocytosis 4255726 ENSG00000159459 UBR1 16311597 243800 Johanson-Blizzard syndrome 5171616 ENSG00000141458 NPC1 9634529 257220 "Niemann-Pick disease, type D" 17948490 ENSG00000171105 INSR 2121734 262190 Rabson-Mendenhall syndrome 13302174 ENSG00000172893 DHCR7 9653161 270400 Smith-Lemli-Opitz syndrome 14119520 ENSG00000172893 DHCR7 9634533 270400 Smith-Lemli-Opitz syndrome 14119520 ENSG00000196924 FLNA 12612583 305620 Frontometaphyseal dysplasia 1 5807657 ENSG00000102172 SMS 14508504 309583 "Mental retardation, X-linked, Snyder-Robinson type" 5823961 ENSG00000105610 KLF1 18487511 111150 Blood group--Lutheran inhibitor 4682512 ENSG00000160299 PCNT 18174396 210720 "Microcephalic osteodysplastic primordial dwarfism, type II" "Brizard, J., Mimouni, M., Seneze, J., Thoyer-Rozat, J. Sur un cas de nanisme extreme a debut intra-uterin vraisemblablement du type Seckel. Ann. Pediat. 20: 655-660, 1973." ENSG00000133020 MYH8 15282353 158300 Trismus-pseudocamptodactyly syndrome "Hecht, F., Beals, R. K. Inability to open the mouth fully: an autosomal dominant phenotype with facultative camptodactyly and short stature. Birth Defects Orig. Art. Ser. V(3): 96-98, 1969." ENSG00000160882 CYP11B1 2022736 202010 "Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency" "Eberlein, W. R., Bongiovanni, A. M. Plasma and urinary corticosteroids in the hypertensive form of adrenal hyperplasia. J. Biol. Chem. 223: 85-94, 1956." ENSG00000165168 CYBB 2556453 306400 "Chronic granulomatous disease, X-linked" "Janeway, C. A., Craig, J., Davidson, M., Downey, W., Gitlin, D., Sullivan, J. C. Hypergammaglobulinemia associated with severe recurrent and chronic nonspecific infection. Am. J. Dis. Child 88: 388-392, 1954." ENSG00000101868 POLA1 27019227 301220 "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" 6794369 ENSG00000134504 KCTD1 23541344 181270 Scalp-ear-nipple syndrome 708615 ENSG00000100014 SPECC1L 21703590 600251 "Facial clefting, oblique, 1" 820824 ENSG00000164946 FREM1 21507892 248450 Manitoba oculotrichoanal syndrome 820824 ENSG00000143183 TMCO1 20018682 213980 "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" 1204988 ENSG00000172572 PDE3A 18086950 112410 Hypertension and brachydactyly syndrome 4774535 ENSG00000136997 MYC 8220424 113970 Burkitt lymphoma 13628987 ENSG00000136352 NKX2-1 11971878 118700 "Chorea, hereditary benign" 4225827 ENSG00000073282 TP63 12766194 129400 Orofacial cleft 8 5713637 ENSG00000073282 TP63 12766194 129400 Rapp-Hodgkin syndrome 5713637 ENSG00000162551 ALPL 1409720 146300 "Hypophosphatasia, adult" 13410963 ENSG00000162551 ALPL 1409720 146300 Odontohypophosphatasia 13410963 ENSG00000145888 GLRA1 8298642 149400 "Hyperekplexia, hereditary 1, autosomal dominant or recessive" 13594585 ENSG00000171714 ANO5 15124103 166260 Gnathodiaphyseal dysplasia 5816667 ENSG00000162551 ALPL 1409720 241510 "Hypophosphatasia, childhood" 13410963 ENSG00000109861 CTSC 10662807 245010 Haim-Munk syndrome 14252683 ENSG00000248098 BCKDHA 2703538 248600 "Maple syrup urine disease, type Ia" 13214961 ENSG00000112077 RHAG 8563755 268150 "Anemia, hemolytic, Rh-null, regulator type" 13782143 ENSG00000130203 APOE 11095479 269600 Sea-blue histiocyte disease 14320759 ENSG00000133104 SPART 12134148 275900 Troyer syndrome 6022528 ENSG00000165704 HPRT1 11891689 300323 HPRT-related gout 4291947 ENSG00000147044 CASK 19377476 300422 "Mental retardation, with or without nystagmus" 4365204 ENSG00000147044 CASK 19200522 300422 FG syndrome 4 4365204 ENSG00000137745 MMP13 16167086 602111 Metaphyseal anadysplasia 1 4252978 ENSG00000137745 MMP13 16167086 602111 "Spondyloepimetaphyseal dysplasia, Missouri type" 4252978 ENSG00000128683 GAD1 15571623 603513 "Cerebral palsy, spastic quadriplegic, 1" 5824822 ENSG00000184908 CLCNKB 9326936 607364 "Bartter syndrome, type 3" 13969763 ENSG00000135541 AHI1 15322546 608629 Joubert syndrome-3 5816874 ENSG00000144061 NPHP1 15138899 609583 Joubert syndrome 4 5816874 ENSG00000183691 NOG 17668388 611377 "Brachydactyly, type B2" 4648959 ENSG00000166396 SERPINB7 24207119 615598 "Palmoplantar keratoderma, Nagashima type" "Nagashima, M. Palmoplantar keratoses.In: Miura, O.; Ochiai, K. (eds.) : Clinics and Genetics. Vol. 9. Inheritance of Dermatological and Urological Diseases. Tokyo: Igaku-Shoin 1977. Pp. 23-27." ENSG00000165458 INPPL1 23273567 258480 Opsismodysplasia "Zonana, J., Rimoin, D. L., Lachman, R. S., Cohen, A. H. A unique chondrodysplasia secondary to a defect in chondroosseous transformation.In: Bergsma, D.; Lowry, R. B. : Embryology and Pathogenesis and Prenatal Diagnosis. New York: Alan R. Liss (pub.) 1977." ENSG00000167522 ANKRD11 21782149 148050 KBG syndrome "Herrmann, J., Pallister, P. D., Tiddy, W., Opitz, J. M. The KBG syndrome--a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig. Art. Ser. XI(5): 7-18, 1975." ENSG00000119121 TRPM6 12032570 602014 "Hypomagnesemia 1, intestinal" "Salet, J., Polonovski, C., De Gouyon, F., Pean, G., Melekian, B., Fournet, J.-P. Tetanie hypocalcemique recidivante par hypomagnesemie congenitale: une maladie metabolique nouvelle. Arch. Franc. Pediat. 23: 749-768, 1966." ENSG00000119121 TRPM6 12032568 602014 "Hypomagnesemia 1, intestinal" "Salet, J., Polonovski, C., De Gouyon, F., Pean, G., Melekian, B., Fournet, J.-P. Tetanie hypocalcemique recidivante par hypomagnesemie congenitale: une maladie metabolique nouvelle. Arch. Franc. Pediat. 23: 749-768, 1966." ENSG00000077782 FGFR1 11297579 147950 Hypogonadotropic hypogonadism 2 with or without anosmia "Rosen, S. W. The syndrome of hypogonadism, anosmia and midline cranial anomalies. (Abstract) Proceedings of the 47th Meeting of the Endocrine Society, New York 1965." ENSG00000183691 NOG 11545688 186570 Tarsal-carpal coalition syndrome "Strasburger, A. K., Hawkins, M. R., Eldridge, R., Hargrave, R. L., McKusick, V. A. Symphalangism: genetic and clinical aspects. Bull. Johns Hopkins Hosp. 117: 108-127, 1965" ENSG00000163132 MSX1 11369996 189500 "Ectodermal dysplasia 3, Witkop type" "Witkop, C. J., Jr. Genetic disease of the oral cavity.In: Tiecke, R. W. (ed.) : Oral Pathology. New York: McGraw-Hill (pub.) 1965. Pp. 810-814." ENSG00000160211 G6PD 1611091 300908 Hemolytic anemia due to G6PD deficiency "Carson, P. E., Flanagan, C. L., Ickes, C. E., Alving, A. S. Enzymatic deficiency in primaquine-sensitive erythrocytes. Science 124: 484-485, 1956." ENSG00000081014 AP4E1 26544806 184450 "Stuttering, familial persistent, 1" 554863 ENSG00000156709 AIFM1 25986071 300614 "Deafness, X-linked 5" 223494 ENSG00000120498 TEX11 25970010 309120 "Spermatogenic failure, X-linked, 2" 574357 ENSG00000122145 TBX22 22784330 302905 "Abruzzo-Erickson syndrome," 839509 ENSG00000119013 NDUFB3 22277967 252010 Mitochondrial complex I deficiency 947896 ENSG00000171456 ASXL1 21706002 605039 Bohring-Opitz syndrome 1190170 ENSG00000168237 GLYCTK 20949620 220120 D-glyceric aciduria 4434100 ENSG00000196924 FLNA 20583181 300244 Terminal osseous dysplasia 4452723 ENSG00000171714 ANO5 20096397 611307 "Muscular dystrophy, limb-girdle, type 2L" 4834543 ENSG00000111676 ATN1 8136840 125370 Dentatorubro-pallidoluysian atrophy 13517487 ENSG00000196218 RYR1 18765655 145600 King-Denborough syndrome 4109748 ENSG00000179295 PTPN11 12058348 151100 LEOPARD syndrome 1 5921856 ENSG00000004939 SLC4A1 9312167 179800 "Renal tubular acidosis, distal, AD " 13739450 ENSG00000163666 HESX1 9620767 182230 Growth hormone deficiency with pituitary anomalies 13884418 ENSG00000163666 HESX1 9620767 182230 "Pituitary hormone deficiency, combined, 5" 13884418 ENSG00000163666 HESX1 9620767 182230 Septooptic dysplasia 13884418 ENSG00000231852 CYP21A2 1644925 201910 "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency" 13286340 ENSG00000141510 TP53 12619118 202300 Adrenal cortical carcinoma 6016796 ENSG00000088836 SLC4A11 17220209 217400 Corneal endothelial dystrophy and perceptive deafness 5312820 ENSG00000125863 MKKS 10802661 236700 McKusick-Kaufman syndrome 14172277 ENSG00000090487 SPG21 14564668 248900 Mast syndrome 6024251 ENSG00000277893 SRD5A2 1944596 264600 Pseudovaginal perineoscrotal hypospadias 13292210 ENSG00000022267 FHL1 18274675 300717 "Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset" 4117299 ENSG00000126953 TIMM8A 8841189 304700 Mohr-Tranebjaerg syndrome 13771732 ENSG00000044446 PHKA2 7847371 306000 "Glycogen storage disease, type IXa1" 13646331 ENSG00000105929 ATP6V0A4 10973252 602722 "Renal tubular acidosis, distal, autosomal recessive" 14194734 ENSG00000175097 RAG2 11313270 603554 Omenn syndrome 14328107 ENSG00000183873 SCN5A 14523039 608567 Sick sinus syndrome 1 6029120 ENSG00000106367 AP1S1 19057675 609313 MEDNIK syndrome 4342731 ENSG00000115486 GGCX 17110937 610842 Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 5548470 ENSG00000088926 F11 2813350 612416 "Factor XI deficiency, autosomal dominant" 13037836 ENSG00000088926 F11 2813350 612416 "Factor XI deficiency, autosomal recessive" 13037836 ENSG00000164953 TMEM67 19508969 613550 Nephronophthisis 11 4688793 ENSG00000179270 C2orf71 20398886 613428 Retinitis pigmentosa 54 "Pinckers, A., Otto, A. J., Van den Heuvel, J. E. A. A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism. Acta Ophthal. (Copenh.) 51: 445-460, 1973." ENSG00000187796 CARD9 19864672 212050 "Candidiasis, familial, 2, autosomal recessive" "Higgs, J. M., Wells, R. S. Chronic muco-cutaneous candidiasis: associated abnormalities of iron metabolism. Brit. J. Derm. 86 (suppl. 8): 88-102, 1972." ENSG00000187676 B3GLCT 16909395 261540 Peters-plus syndrome "Krause, U., Koivisto, M., Rantakallio, P. A case of Peters syndrome with spontaneous corneal perforation. J. Pediat. Ophthal. 6: 145-149, 1969." ENSG00000106105 GARS 12690580 600794 "Neuropathy, distal hereditary motor, type VA" "Silver, J. R. Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29: 135-144, 1966." ENSG00000183072 NKX2-5 9651244 108900 "Atrial septal defect 7, with or without AV conduction defects" 13783833 ENSG00000111713 GYS2 9691087 240600 "Glycogen storage disease 0, liver" "Broberger, O., Zetterstrom, R. Hypoglycemia with an inability to increase the epinephrine secretion in insulin-induced hypoglycemia. J. Pediat. 59: 215-222, 1961." ENSG00000144061 NPHP1 9856524 266900 Senior-Loken syndrome-1 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000105928 GSDME 9771715 600994 "Deafness, autosomal dominant 5" "Dolowitz, D. A., Stephens, F. E. Hereditary nerve deafness. Ann. Otolaryng. 70: 851-859, 1961." ENSG00000171862 PTEN 9140396 158350 Cowden syndrome 1 "Riley, H. D., Jr., Smith, W. R. Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics 26: 293-300, 1960." ENSG00000107521 HPS1 8896559 203300 Hermansky-Pudlak syndrome 1 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000196218 RYR1 8220423 117000 Central core disease "Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956" ENSG00000196218 RYR1 8220423 117000 "Neuromuscular disease, congenital, with uniform type 1 fiber" "Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956" ENSG00000196218 RYR1 8220422 117000 Central core disease "Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956" ENSG00000196218 RYR1 8220422 117000 "Neuromuscular disease, congenital, with uniform type 1 fiber" "Shy, G. M., Magee, K. R. A new congenital non-progressive myopathy. Brain 79: 610-621, 1956" ENSG00000128739 SNRPN 8242060 176270 Prader-Willi syndrome "Prader, A., Labhart, A., Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956." ENSG00000133059 DSTYK 28157540 270750 Spastic paraplegia 23 7441281 ENSG00000001497 LAS1L 25644381 309585 Wilson-Turner syndrome 758423 ENSG00000197594 ENPP1 24075184 615522 Cole disease 132904 ENSG00000196924 FLNA 23037936 300048 Congenital short bowel syndrome 1269170 ENSG00000006530 AGK 22277967 212350 Sengers syndrome 1168700 ENSG00000106688 SLC1A1 21123949 222730 Dicarboxylic aminoaciduria 4810805 ENSG00000174705 SH3PXD2B 20137777 249420 Frank-ter Haar syndrome 4805907 ENSG00000089225 TBX5 8988165 142900 Holt-Oram syndrome 14402857 ENSG00000089225 TBX5 8988164 142900 Holt-Oram syndrome 14402857 ENSG00000162337 LRP5 12579474 144750 "Hyperostosis, endosteal" 5329553 ENSG00000162337 LRP5 12579474 144750 Osteosclerosis 5329553 ENSG00000165474 GJB2 15482471 149200 Bart-Pumphrey syndrome 6015974 ENSG00000204217 BMPR2 10973254 178600 "Pulmonary hypertension, familial primary, 1, with or without HHT" 14053563 ENSG00000204217 BMPR2 10903931 178600 "Pulmonary hypertension, familial primary, 1, with or without HHT" 14053563 ENSG00000049540 ELN 8132745 185500 Supravalvar aortic stenosis 13408018 ENSG00000183072 NKX2-5 10587520 187500 Tetralogy of Fallot 13943847 ENSG00000168303 MPLKIP 15645389 234050 "Trichothiodystrophy 4, nonphotosensitive" 5645693 ENSG00000107099 DOCK8 19776401 243700 "Hyper-IgE recurrent infection syndrome, autosomal recessive" 5059313 ENSG00000083123 BCKDHB 2022752 248600 "Maple syrup urine disease, type Ib, 248" 13214961 ENSG00000137992 DBT 1990841 248600 "Maple syrup urine disease, type II" 13214961 ENSG00000166311 SMPD1 2023926 257200 "Niemann-Pick disease, type A" 13138710 ENSG00000105641 SLC5A5 9171822 274400 Thyroid dyshormonogenesis 1 13833727 ENSG00000132763 MMACHC 16311595 277400 "Methylmalonic aciduria and homocystinuria, cblC type" 5792556 ENSG00000185344 ATP6V0A2 18157129 278250 Wrinkly skin syndrome 5579863 ENSG00000165194 PCDH19 18469813 300088 "Epileptic encephalopathy, early infantile, 9" 5116697 ENSG00000044446 PHKA2 8733134 306000 "Glycogen storage disease, type IXa2" 13646331 ENSG00000196924 FLNA 12612583 309350 Melnick-Needles syndrome 5938049 ENSG00000123560 PLP1 8012387 312920 "Spastic paraplegia 2, X-linked" 13406703 ENSG00000170835 CEL 16369531 609812 "Maturity-onset diabetes of the young, type VIII" 4183910 ENSG00000011465 DCN 15671264 610048 "Corneal dystrophy, congenital stromal" 5304426 ENSG00000198707 CEP290 16682973 610188 Joubert syndrome 5 5816874 ENSG00000187240 DYNC2H1 19442771 613091 Short-rib thoracic dysplasia 3 with or without polydactyly 5058513 ENSG00000198286 CARD11 18323416 616452 B-cell expansion with NFKB and T-cell anergy 5540480 ENSG00000145675 PIK3R1 23810378 269880 SHORT syndrome "Gorlin, R. J. A selected miscellany. Birth Defects Orig. Art. Ser. XI(2): 46-48, 1975." ENSG00000135925 WNT10A 19559398 224750 Schopf-Schulz-Passarge syndrome "Schopf, E., Schulz, H.-J., Passarge, E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig. Art. Ser. VII(8): 219-221, 1971." ENSG00000153283 CD96 17847009 211750 C syndrome "Opitz, J. M., Johnson, R. C., McCreadie, S. R., Smith, D. W. The C syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 161-166, 1969." ENSG00000166710 B2M 16549777 241600 Immunodeficiency 43 "Waldmann, T. A., Miller, E. J., Terry, W. D. Hypercatabolism of IgG and albumin: a new familial disorder. (Abstract) Clin. Res. 16: 45 only, 1968" ENSG00000111670 GNPTAB 15633164 252500 Mucolipidosis II alpha/beta "Demars, R. I., Leroy, J. G. The remarkable cells cultured from a human with Hurler's syndrome. An approach to visual selection for in vitro genetic studies. In Vitro 2: 107, 1967." ENSG00000152137 HSPB8 15122253 158590 "Neuropathy, distal hereditary motor, type IIA" "Nelson, J. W., Amick, L. D. Heredofamilial progressive spinal muscular atrophy: a clinical and electromyographic study of a kinship. (Abstract) Neurology 16: 306 only, 1966." ENSG00000168000 BSCL2 14981520 600794 "Neuropathy, distal hereditary motor, type VA" "Silver, J. R. Familial spastic paraplegia with amyotrophy of the hands. J. Neurol. Neurosurg. Psychiat. 29: 135-144, 1966." ENSG00000179295 PTPN11 11704759 163950 Noonan syndrome 1 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000269900 RMRP 11207361 250250 Cartilage-hair hypoplasia "Theodorou, S. D., Adams, J. An unusual case of metaphyseal dysplasia. J. Bone Joint Surg. Br. 45: 364-369, 1963." ENSG00000165029 ABCA1 10431236 205400 Tangier disease "Fredrickson, D. S., Altrocchi, P. H., Avioli, L. V., Goodman, D. S., Goodman, H. C. Tangier disease. Ann. Intern. Med. 55: 1016-1031, 1961." ENSG00000106692 FKTN 9690476 253800 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "Fukuyama, Y., Kawazura, M., Haruna, H. A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. Paediat. Univ. Tokyo 4: 5-8, 1960." ENSG00000120708 TGFBI 9054935 122200 "Corneal dystrophy, lattice type I" "Frayer, W. C., Blodi, F. C. The lattice type of familial corneal degeneration: a histopathologic study. Arch. Ophthal. 61: 712-719, 1959." ENSG00000120156 TEK 8980225 600195 "Venous malformations, multiple cutaneous and mucosal" "Bean, W. B. Vascular Spiders and Related Lesions of the Skin. Springfield, Ill.: Charles C. Thomas (pub.) 1958. Pp. 178-185." ENSG00000177409 SAMD9L 27259050 159550 Ataxia-pancytopenia syndrome 283689 ENSG00000074181 NOTCH3 25394726 130720 Lateral meningocele syndrome 830893 ENSG00000181192 DHTKD1 23141293 204750 2-aminoadipic 2-oxoadipic aciduria 4442872 ENSG00000203667 COX20 23125284 220110 Mitochondrial complex IV deficiency 1127539 ENSG00000103335 PIEZO1 22529292 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 4851153 ENSG00000067836 ROGDI 22424600 226750 Kohlschutter-Tonz syndrome 4372200 ENSG00000106462 EZH2 22177091 277590 Weaver syndrome 4366187 ENSG00000119686 FLVCR2 20206334 225790 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 4555262 ENSG00000165671 NSD1 11896389 117550 Sotos syndrome 1 14148233 ENSG00000104237 RP1 10391211 180100 Retinitis pigmentosa 1 13860992 ENSG00000147465 STAR 7892608 201710 Lipoid adrenal hyperplasia 13512944 ENSG00000168447 SCNN1B 16207733 211400 Bronchiectasis with or without elevated sweat chloride 1 5006763 ENSG00000142798 HSPG2 11101850 255800 "Schwartz-Jampel syndrome, type 1" 13909723 ENSG00000114491 UMPS 9042911 258900 Orotic aciduria 13651334 ENSG00000168000 BSCL2 14981520 270685 Silver spastic paraplegia syndrome 5964029 ENSG00000159650 UROC1 19304569 276880 Urocanase deficiency 5124677 ENSG00000168288 MMADHC 18385497 277410 "Homocystinuria, cblD type, variant 1" 5524089 ENSG00000168288 MMADHC 18385497 277410 "Methylmalonic aciduria and homocystinuria, cblD type" 5524089 ENSG00000168288 MMADHC 18385497 277410 "Methylmalonic aciduria, cblD type, variant 2" 5524089 ENSG00000169297 NR0B1 7990958 300200 "Adrenal hypoplasia, congenital" 13381433 ENSG00000126895 AVPR2 15872203 300539 Nephrogenic syndrome of inappropriate antidiuresis 5337379 ENSG00000102001 CACNA1F 12111638 300600 Aland Island eye disease 14230113 ENSG00000049089 COL9A2 8528240 600204 "Epiphyseal dysplasia, multiple, 2" 13560805 ENSG00000164953 TMEM67 17160906 610688 Joubert syndrome 6 5816874 ENSG00000103494 RPGRIP1L 17558409 611560 Joubert syndrome 7 5816874 ENSG00000112619 PRPH2 8485576 613105 "Choriodal dystrophy, central areolar 2" 13410569 ENSG00000080603 SRCAP 22265015 136140 Floating-Harbor syndrome "Pelletier, G., Feingold, M. Case report 1. Syndrome Ident. 1: 8-9, 1973." ENSG00000108950 FAM20A 21549343 204690 "Amelogenesis imperfecta, type IG (enamel-renal syndrome)" "MacGibbon, D. Generalized enamel hypoplasia and renal dysfunction. Aust. Dent. J. 17: 61-63, 1972." ENSG00000204406 MBD5 17847001 156200 "Mental retardation, autosomal dominant 1" "Dekaban, A. S., Klein, D. Familial mental retardation. Acta Genet. Statist. Med. 18: 206-228, 1968." ENSG00000104313 EYA1 16441263 166780 Otofaciocervical syndrome "Fara, M., Chlupackova, V., Hrivnakova, J. Dismorphia oto-facio-cervicalis familiaris. Acta Chir. Plast. 9: 255-268, 1967." ENSG00000197496 SLC2A10 16550171 208050 Arterial tortuosity syndrome "Ertugrel, A. Diffuse tortuosity and lengthening of the arteries. Circulation 36: 400-407, 1967." ENSG00000139219 COL2A1 16752401 609508 "Stickler sydrome, type I, nonsyndromic ocular" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000112280 COL9A1 16909383 614134 "Stickler syndrome, type IV" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000110243 APOA5 16200213 144650 "Hyperchylomicronemia, late-onset" "Fredrickson, D. S., Lees, R. S. Familial hyperlipoproteinemia.In: Stanbury, J. B.; Wyngaarden, J. B.; Fredrickson, D. S. (eds.) : The Metabolic Basis of Inherited Disease. (2nd ed.) New York: McGraw-Hill (pub.) 1966." ENSG00000167749 KLK4 15235027 204700 "Amelogenesis imperfecta, type IIA1" "Witkop, C. J., Jr. Genetic disease of the oral cavity.In: Tiecke, R. W. : Oral Pathology. New York: McGraw-Hill (pub.) 1965." ENSG00000198836 OPA1 12566046 125250 Optic atrophy plus syndrome "Gernet, H. Hereditaere Opticusatrophie in Kombination mit Taubheit. Dtsch. Ophthal. Ges. 65: 545-547, 1964." ENSG00000087460 GNAS 11784876 166350 "Osseous heteroplasia, progressive" "Peterson, W. C., Jr., Mandel, S. L. Primary osteomas of skin. Arch. Derm. 87: 626-632, 1963." ENSG00000162399 BSND 11687798 602522 Sensorineural deafness with mild renal dysfunction "F. C. Bartter, P. Pronove, J. R. Gill Jr, R. C. MacCardle: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. American Journal of Medicine, New York, 1962, 33: 811-828." ENSG00000139330 KERA 10802664 217300 "Cornea plana 2, autosomal recessive" "Felix, C. H. Congenitale familiaere Cornea plana. Klin. Monatsbl. Augenheilkd. 74: 710-716, 1925. Note: See Also: Pedigree, Fig. 345, P. 448 of Waardenburg, P. J., Franceschetti, A. and Klein, D. (eds.): Genetics and Ophthalmology. Vol. 1. Springfield, Ill.: Charles C Thomas, 1961." ENSG00000104763 ASAH1 8955159 228000 Farber lipogranulomatosis "Farber, S., Cohen, J., Uzman, L. L. Lipogranulomatosis: a new lipo-glyco-protein 'storage' disease. J. Mt. Sinai Hosp. 24: 816-837, 1957" ENSG00000180210 F2 7740448 613679 Hypoprothrombinemia "Quick, A. J., Pisciotta, A. V., Hussey, C. V. Congenital hypoprothrombinemic states. Arch. Intern. Med. 95: 2-14, 1955." ENSG00000196712 NF1 2134734 162200 "Neurofibromatosis, type 1" "Borberg, A. Clinical and genetic investigations into tuberous sclerosis and Recklinghausen's neurofibromatosis: contribution to elucidation of interrelationship and eugenics of the syndromes. Acta Psychiat. Neurol. 71 (suppl.): 1-239, 1951." ENSG00000123342 MMP19 25581579 611543 Cavitary optic disc anomalies 945057 ENSG00000256053 APOPT1 25175347 220110 Mitochondrial complex IV deficiency 1127539 ENSG00000229833 PET100 24462369 220110 Mitochondrial complex IV deficiency 1127539 ENSG00000069011 PITX1 23022097 186550 Liebenberg syndrome 4702300 ENSG00000008441 NFIX 20673863 602535 Marshall-Smith syndrome 4321601 ENSG00000179295 PTPN11 20577567 156250 Metachondromatosis 5313319 ENSG00000197603 C5orf42 20512146 277170 Orofaciodigital syndrome VI 5146584 ENSG00000166546 BEAN1 19878914 117210 Spinocerebellar ataxia 31 5535038 ENSG00000080819 CPOX 8012360 121300 "Coproporphyria, Harderoporphyria" 14378650 ENSG00000070193 FGF10 16630169 149730 LADD syndrome 6066655 ENSG00000066468 FGFR2 16501574 149730 LADD syndrome 6066655 ENSG00000068078 FGFR3 16501574 149730 LADD syndrome 6066655 ENSG00000140521 POLG 11756592 157640 "Progressive external ophthalmoplegia, autosomal dominant 1" 14467368 ENSG00000079805 DNM2 16227997 160150 "Myopathy, centronuclear" 4954227 ENSG00000204217 BMPR2 12358323 178600 "Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated" 14053563 ENSG00000092054 MYH7 17336526 181430 "Scapuloperoneal syndrome, myopathic type" 5696602 ENSG00000101384 JAG1 11152664 187500 Tetralogy of Fallot 13943847 ENSG00000162711 NLRP3 11687797 191900 Muckle-Wells syndrome 14476827 ENSG00000121966 CXCR4 12692554 193670 WHIM syndrome 14122792 ENSG00000091513 TF 11110675 209300 Atransferrinemia 13906010 ENSG00000100504 PYGL 9529348 232700 Glycogen storage disease VI 13646331 ENSG00000126524 SBDS 12496757 260400 Shwachman-Diamond syndrome 14221166 ENSG00000168509 HFE2 14647275 602390 "Hemochromatosis, type 2A" 14314226 ENSG00000048342 CC2D2A 18950740 612285 Joubert syndrome 9 5816874 ENSG00000048342 CC2D2A 18387594 612285 Joubert syndrome 9 5816874 ENSG00000169379 ARL13B 18674751 612291 Joubert syndrome 8 5816874 ENSG00000164344 KLKB1 15461630 612423 Fletcher factor (prekallikrein) deficiency 5845778 ENSG00000100985 MMP9 19615667 613073 Metaphyseal anadysplasia 2 4252978 ENSG00000120149 MSX2 14571277 168550 Parietal foramina with cleidocranial dysplasia "Eckstein, H. B., Hoare, R. D. Congenital parietal 'foramina' associated with faulty ossification of the clavicles. Brit. J. Radiol. 36: 220-221, 1963." ENSG00000196712 NF1 12707950 601321 Neurofibromatosis-Noonan syndrome "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000204370 SDHD 12007193 114900 "Carcinoid tumors, intestinal" "Eschbach, J. W., Rinaldo, J. A., Jr. Metastatic carcinoid: a familial occurrence. Ann. Intern. Med. 57: 647-650, 1962" ENSG00000154122 ANKH 12297987 118600 Chondrocalcinosis 2 "McCarty, D. J., Jr., Kohn, N. N., Faires, J. S. The significance of calcium phosphate crystals in the synovial fluid of arthritic patients. The 'pseudogout syndrome.' I. Clinical aspects. Ann. Intern. Med. 56: 711-737, 1962." ENSG00000147133 TAF1 11714101 314250 "Dystonia-Parkinsonism, X-linked" "Johnston, A. W., McKusick, V. A. Sex-linked recessive inheritance in spastic paraplegia and parkinsonism. In: Gedda, L. (ed.): Proceedings of the Second International Congress on Human Genetics, Rome, Sept. 6-12, 1961. Vol. 3. Rome: Instituto G. Mendel (pub.) 1963. Pp. 1652-1654." ENSG00000241635 UGT1A1 11061796 237900 "Hyperbilirubinemia, familial transient neonatal" "Lucey, J. F., Arias, I. M., McKay, R. J., Jr. Transient familial neonatal hyperbilirubinemia. Am. J. Dis. Child. 100: 787-789, 1960." ENSG00000008311 AASS 10775527 238700 Hyperlysinemia "Woody, N. C., Hutzler, J., Dancis, J. Further studies of hyperlysinemia. Am. J. Dis. Child. 112: 577-580, 1960." ENSG00000132842 AP3B1 10024875 608233 Hermansky-Pudlak syndrome 2 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000111012 CYP27B1 9486994 264700 "Vitamin D-dependent rickets, type I" "Fraser, D., Salter, R. B. The diagnosis and management of the various types of rickets. Pediat. Clin. N. Am. 5: 417-441, 1958." ENSG00000008710 PKD1 8004675 173900 "Polycystic kidney disease, adult type I" "Poinso, R., Monges, H., Payan, H. La maladie kystique du foie. Paris: Expansion Scientifique Francaise (pub.) 1954." ENSG00000083444 PLOD1 8449506 225400 "Ehlers-Danlos syndrome, type VI, 225400 (3)" "Durham, D. G. Cutis hyperelastica (Ehlers-Danlos syndrome) with blue scleras, microcornea, and glaucoma. Arch. Ophtal. (Paris) 49: 220, 1953." ENSG00000128617 OPN1SW 1531728 190900 "Colorblindness, tritan" "Wright, W. D. The characteristics of tritanopia. J. Ophthal. Soc. Am. 42: 509-521, 1952." ENSG00000164751 PEX2 1546315 614866 Peroxisome biogenesis disorder 5A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000171204 TMEM126B 27374773 252010 Mitochondrial complex I deficiency 947896 ENSG00000183421 RIPK4 22197488 263650 "Popliteal pterygium syndrome, Bartsocas-Papas type" 4339984 ENSG00000101152 DNAJC5 21820099 162350 "Ceroid lipofuscinosis, neuronal, 4, Parry type" 5132971 ENSG00000160796 NBEAL2 21765413 139090 Gray platelet syndrome 5129551 ENSG00000160796 NBEAL2 21765412 139090 Gray platelet syndrome 5129551 ENSG00000160796 NBEAL2 21765411 139090 Gray platelet syndrome 5129551 ENSG00000137601 NEK1 21211617 263520 Short-rib thoracic dysplasia 6 with or without polydactyly 4331366 ENSG00000060642 PIGV 20802478 239300 Hyperphosphatasia with mental retardation syndrome 1 5465362 ENSG00000143815 LBR 20522425 613471 Reynolds syndrome 5448799 ENSG00000255974 CYP2A6 14656880 122700 Coumarin resistance 14187664 ENSG00000158104 HPD 11073718 140350 Hawkinsinuria 16748849 ENSG00000170881 RNF139 7690964 144700 Renal cell carcinoma 13070329 ENSG00000060718 COL11A1 9529347 154780 Marshall syndrome 13520885 ENSG00000007314 SCN4A 1659948 170500 Hyperkalemic periodic paralysis type 2 14832379 ENSG00000134982 APC 1651563 175100 Adenomatous polyposis coli 14902760 ENSG00000134982 APC 1651563 175100 Brain tumor-polyposis syndrome 2 14902760 ENSG00000134982 APC 1651563 175100 Gardner syndrome 14902760 ENSG00000134982 APC 1651174 175100 Adenomatous polyposis coli 14902760 ENSG00000134982 APC 1651174 175100 Brain tumor-polyposis syndrome 2 14902760 ENSG00000134982 APC 1651174 175100 Gardner syndrome 14902760 ENSG00000151623 NR3C2 9662404 177735 "Pseudohypoaldosteronism type I, autosomal dominant" 13545877 ENSG00000004939 SLC4A1 16227998 185020 Cryohydrocytosis 1850 14296416 ENSG00000148384 INPP5E 19668216 213300 Joubert syndrome 1 5816874 ENSG00000053918 KCNQ1 9020846 220400 Jervell and Lange-Nielsen syndrome 13435203 ENSG00000114480 GBE1 8613547 232500 Glycogen storage disease IV 13279125 ENSG00000172062 SMN1 8782046 253400 Spinal muscular atrophy-3 13312732 ENSG00000158104 HPD 10942115 276710 "Tyrosinemia, type III" 16748849 ENSG00000046651 OFD1 19800048 300804 Joubert syndrome 10 5816874 ENSG00000156531 PHF6 12415272 301900 Borjeson-Forssman-Lehmann syndrome 13871358 ENSG00000107290 SETX 15106121 602433 "Amyotrophic lateral sclerosis 4, juvenile" 14236005 ENSG00000152457 DCLRE1C 15731174 603554 Omenn syndrome 14328107 ENSG00000076351 SLC46A1 17129779 229050 "Folate malabsorption, hereditary" "Luhby, A. L., Cooperman, J. M., Pesci-Bourel, A. A new inborn error of metabolism: folic acid responsive megaloblastic anemia, ataxia, mental retardation, and convulsions. (Abstract) J. Pediat. 67: 1052 only, 1965." ENSG00000131697 NPHP4 12205563 606996 Senior-Loken syndrome 4 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000139219 COL2A1 7981752 156550 Kniest dysplasia "Kniest, W. Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie. Z. Kinderheilk. 43: 633-640, 1952." ENSG00000241635 UGT1A1 8276413 606785 "Crigler-Najjar syndrome, type II" "J. F.Crigler, V. A. Najjar: Congenital familial nonhemolytic jaundice with kernicterus. Pediatrics, Evanston, Illinois, 1952, 10: 169-180. " ENSG00000104783 KCNN4 26148990 616689 Dehydrated hereditary stomatocytosis 2 4851153 ENSG00000154277 UCHL1 23359680 615491 "Spastic paraplegia 79, autosomal recessive" 4514348 ENSG00000151148 UBE3B 23200864 244450 Kaufman oculocerebrofacial syndrome 5006210 ENSG00000105409 ATP1A3 22842232 614820 Alternating hemiplegia of childhood 2 5089756 ENSG00000114251 WNT5A 19918918 180700 "Robinow syndrome, autosomal dominant 1" 5771504 ENSG00000110711 AIP 16728643 102200 "Pituitary adenoma, growth hormone-secreting" 5320367 ENSG00000135697 BCO1 17951468 115300 "Hypercarotenemia and vitamin A deficiency, autosomal dominant" 5955354 ENSG00000117118 SDHB 11404820 115310 Paragangliomas 4 13811705 ENSG00000118271 TTR 16433699 115430 "Carpal tunnel syndrome, familial" 14341079 ENSG00000115904 SOS1 11868160 135300 "Fibromatosis, gingival, 1" 13787614 ENSG00000143631 FLG 16444271 146700 Ichthyosis vulgaris 11850936 ENSG00000168610 STAT3 17676033 147060 Hyper-IgE recurrent infection syndrome 4161105 ENSG00000169946 ZFPM2 14517948 187500 Tetralogy of Fallot 13943847 ENSG00000104447 TRPS1 10615131 190350 "Trichorhinophalangeal syndrome, type I" 13621640 ENSG00000143178 TBX19 11290323 201400 Adrenocorticotropic hormone deficiency 14428277 ENSG00000197561 ELANE 11001877 202700 "Neutropenia, severe congenital 1, autosomal dominant" 13626582 ENSG00000110911 SLC11A2 15459009 206100 "Anemia, hypochromic microcytic, with iron overload 1" 14135503 ENSG00000241635 UGT1A1 8276413 218800 "Crigler-Najjar syndrome, type I" 12983120 ENSG00000141627 DYM 12554689 223800 Dyggve-Melchior-Clausen disease 21032395 ENSG00000100033 PRODH 12217952 239500 "Hyperprolinemia, type I" 13910063 ENSG00000170927 PKHD1 11919560 263200 Polycystic kidney and hepatic disease 13764315 ENSG00000072210 ALDH3A2 9027499 270200 Sjogren-Larsson syndrome 13354244 ENSG00000160323 ADAMTS13 11586351 274150 "Thrombotic thrombocytopenic purpura, familial" 14443744 ENSG00000122126 OCRL 15627218 300555 Dent disease 2 14169453 ENSG00000010671 BTK 8380905 300755 "Agammaglobulinemia, X-linked 1" 14929630 ENSG00000102103 PQBP1 14634649 309500 Renpenning syndrome 13981686 ENSG00000196924 FLNA 12612583 311300 "Otopalatodigital syndrome, type I" 13919903 ENSG00000172037 LAMB2 15367484 609049 Pierson syndrome 14136829 ENSG00000111199 TRPV4 19232556 184252 "Spondylometaphyseal dysplasia, Kozlowski type" "Kozlowski, K., Maroteaux, P., Spranger, J. W. La dysostose spondylo-metaphysaire. Presse Med. 75: 2769-2774, 1967." ENSG00000074582 BCS1L 17314340 262000 Bjornstad syndrome "Bjornstad, R. Pili torti and sensory-neural loss of hearing. (Abstract) Proc. 7th Meeting Northern Derm. Soc., Copenhagen, May , 1965." ENSG00000124164 VAPB 15372378 182980 "Spinal muscular atrophy, late-onset, Finkel type" "Finkel, N. A forma pseudomiopatica tardia da atrofia muscular progressiva heredo-familial. Arquiv. Neuropsiquiatr. 20: 307-322, 1962." ENSG00000181449 SOX2 12612584 206900 "Microphthalmia, syndromic 3" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000181449 SOX2 12612584 206900 Optic nerve hypoplasia and abnormalities of the central nervous system "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000152700 SAR1B 12692552 246700 Chylomicron retention disease "Anderson, C. M., Townley, R. R. W., Freeman, M., Johansen, P. Unusual causes of steatorrhoea in infancy and childhood. Med. J. Aust. 2: 617-622, 1961." ENSG00000160789 LMNA 12075506 248370 Mandibuloacral dysplasia "Cavallazzi, C., Cremoncini, R., Quadri, A. Su di un caso di disostosi cleido-cranica. [A case of cleidocranial dysostosis]. Riv. Clin. Pediat. 65: 313-326, 1960" ENSG00000087266 SH3BP2 11381256 118400 Cherubism "Thompson, N. Cherubism: familial fibrous dysplasia of the jaws. Brit. J. Plast. Surg. 12: 89-103, 1959." ENSG00000163755 HPS3 11455388 614072 Hermansky-Pudlak syndrome 3 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000118972 FGF23 11062477 193100 "Hypophosphatemic rickets, autosomal dominant" 13565132 ENSG00000133710 SPINK5 10835624 256500 Netherton syndrome "Netherton, E. W. A unique case of trichorrhexis nodosa: 'bamboo hairs'. Arch. Derm. 78: 483-487, 1958." ENSG00000197561 ELANE 10581030 162800 "Neutropenia, cyclic" "Page, A. R., Good, R. A. Studies on cyclic neutropenia. A clinical and experimental investigation. Am. J. Dis. Child. 94: 623-661, 1957." ENSG00000161270 NPHS1 9660941 256300 "Nephrotic syndrome, type 1" "Hallman, N., Hjelt, L., Ahvenainen, E. K. Nephrotic syndrome in newborn and young infants. Ann. Paediat. Fenn. 2: 227-241, 1956." ENSG00000160224 AIRE 9398839 240300 "Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia" "Craig, J. M., Schiff, L. H., Boone, J. E. Chronic moniliasis associated with Addison's disease. Am. J. Dis. Child. 89: 669-684, 1955." ENSG00000104044 OCA2 7920637 203200 "Albinism, brown oculocutaneous" "Magnussen, K. Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen. Z. Morph. Anthrop. 44: 127-135, 1952." ENSG00000104044 OCA2 7920637 203200 "Albinism, oculocutaneous, type II" "Magnussen, K. Beitrag zur Genetik und Histologie eines isolierten Augenalbinismus beim Kaninchen. Z. Morph. Anthrop. 44: 127-135, 1952." ENSG00000174951 FUT1 7912436 616754 Bombay phenotype "Bhende, Y. M., Deshpande, C. K., Bhatia, H. M., Sanger, R., Race, R. R., Morgan, W. T. J., Watkins, W. M. A 'new' blood group character related to the ABO system. Lancet I: 903-904, 1952." ENSG00000104826 LHB 1727547 228300 Hypogonadotropic hypogonadism 23 with or without anosmia "Pasqualini, R. Q., Bur, G. E. Sindrome hipoandrogenico con gametogenesis conservada: clasificacion de la insuficiencia testicular. Rev. Asoc. Med. Argent. 64: 6-10, 1950." ENSG00000121691 CAT 2308162 614097 Acatalasemia "Takahara, S., Miyamoto, H. Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948." ENSG00000233608 TWIST2 26119818 200110 Ablepharon-macrostomia syndrome 4774831 ENSG00000143324 XPR1 25938945 616413 "Basal ganglia calcification, idiopathic, 6" 4795427 ENSG00000115267 IFIH1 25620204 182250 Singleton-Merten syndrome 1 4272099 ENSG00000135241 PNPLA8 25512002 251950 Mitochondrial myopathy with lactic acidosis 4725145 ENSG00000118402 ELOVL4 24566826 133190 Spinocerebellar ataxia 34 5048218 ENSG00000068724 TTC7A 23423984 243150 Gastrointestinal defects and immunodeficiency syndrome 5091250 ENSG00000118058 KMT2A 22795537 605130 Wiedemann-Steiner syndrome 5519603 ENSG00000187535 IFT140 22503633 266920 Short-rib thoracic dysplasia 9 with or without polydactyly 4991086 ENSG00000049618 ARID1B 22405089 135900 Coffin-Siris syndrome 1 5442442 ENSG00000144535 DIS3L2 22306653 267000 Perlman syndrome 4315293 ENSG00000095015 MAP3K1 21129722 613762 46XY sex reversal 6 4295620 ENSG00000162736 NCSTN 20929727 142690 "Acne inversa, familial, 1" 4864515 ENSG00000151611 MMAA 20556797 251100 "Methylmalonic aciduria, vitamin B12-responsive" 5648598 ENSG00000166147 FBN1 20375004 184900 Stiff skin syndrome 5718921 ENSG00000120708 TGFBI 16652336 121820 "Corneal dystrophy, epithelial basement membrane" 14269893 ENSG00000133895 MEN1 9103196 131100 Multiple endocrine neoplasia 1 13259432 ENSG00000140522 RLBP1 14718298 136880 Retinitis punctata albescens 14459667 ENSG00000067182 TNFRSF1A 10199409 142680 "Periodic fever, familial" 13458215 ENSG00000134371 CDC73 12434154 145000 "Hyperparathyroidism, familial primary" 13691344 ENSG00000111262 KCNA1 7842011 160120 Episodic ataxia/myokymia syndrome 14943316 ENSG00000169344 UMOD 12471200 162000 "Hyperuricemic nephropathy, familial juvenile 1" 13818629 ENSG00000038945 MSR1 12244320 176807 "Prostate cancer, hereditary" 13845929 ENSG00000101282 RSPO4 17041604 206800 Anonychia congenita 14126263 ENSG00000068976 PYGM 8316268 232600 McArdle disease 24540673 ENSG00000163541 SUCLG1 17668387 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 14288452 ENSG00000144455 SUMF1 12757706 272200 Multiple sulfatase deficiency 14476546 ENSG00000144455 SUMF1 12757705 272200 Multiple sulfatase deficiency 14476546 ENSG00000115486 GGCX 9845520 277450 "Vitamin K-dependent clotting factors, combined deficiency of, 1" 13313579 ENSG00000198910 L1CAM 16650080 304100 "Corpus callosum, partial agenesis of" 14158525 ENSG00000196924 FLNA 17190868 314400 "Cardiac valvular dysplasia, X-linked" 5845248 ENSG00000104313 EYA1 9359046 602588 Branchiootic syndrome 1 13269867 ENSG00000132031 MATN3 11479597 607078 "Epiphyseal dysplasia, multiple, 5" 13849708 ENSG00000163600 ICOS 12577056 607594 "Immunodeficiency, common variable, 1" 13786420 ENSG00000100393 EP300 15706485 613684 Rubinstein-Taybi syndrome 2 13983033 ENSG00000171302 CANT1 19853239 251450 Desbuquois dysplasia 1 "Desbuquois, G., Grenier, B., Michel, J., Rossignol, C. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch. Franc. Pediat. 23: 573-587, 1966." ENSG00000165102 HGSNAT 16960811 252930 Mucopolysaccharidosis type IIIC (Sanfilippo C) "Sanfilippo, S. J., Podosin, R., Langer, L. O., Jr., Good, R. A. Mental retardation associated with acid mucopolysacchariduria (heparitin sulfate type). J. Pediat. 63: 837-838, 1963." ENSG00000133703 KRAS 16474405 609942 Noonan syndrome 3 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000183337 BCOR 15004558 300166 "Microphthalmia, syndromic 2" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000119614 VSX2 15257456 610093 "Microphthalmia, isolated 2" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000134438 RAX 14662654 611038 "Microphthalmia, isolated 3" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000175054 ATR 12640452 210600 Seckel syndrome 1 "Seckel, H. P. G. Bird-headed Dwarfs: Studies in Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960." ENSG00000116127 ALMS1 11941369 203800 Alstrom syndrome "Alstrom, C. H., Hallgren, B., Nilsson, L. B., Asander, H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat. Neurol. Scand. 34 (suppl. 129): 1-35, 1959." ENSG00000100099 HPS4 11836498 614073 Hermansky-Pudlak syndrome 4 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000164690 SHH 11471164 147250 Single median maxillary central incisor "Scott, D. C. Absence of upper central incisor. Brit. Dent. J. 104: 247 only, 1958." ENSG00000106617 PRKAG2 11407343 194200 Wolff-Parkinson-White syndrome "Warner, A. D., McKusick, V. A. Wolff-Parkinson-White syndrome: a genetic study. (Abstract) Clin. Res. 6: 18 only, 1958." ENSG00000158125 XDH 9153281 278300 "Xanthinuria, type I" "Dent, C. E., Philpot, G. R. Xanthinuria: an inborn error of metabolism. La ncet I: 182-185, 1954." ENSG00000169607 CKAP2L 25439729 272440 Filippi syndrome 4323269 ENSG00000029993 HMGB3 24993872 300915 "Microphthalmia, syndromic 13" 4998085 ENSG00000092621 PHGDH 24836451 256520 Neu-Laxova syndrome 1 5547878 ENSG00000137693 YAP1 24462371 120433 "Coloboma, ocular" 4997531 ENSG00000137693 YAP1 24462371 120433 "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" 4997531 ENSG00000078401 EDN1 23315542 612798 "Question mark ears, isolated" 4919280 ENSG00000157227 MMP14 22922033 277950 Winchester syndrome 4238825 ENSG00000197603 C5orf42 22425360 614615 Joubert syndrome 17 5816874 ENSG00000105993 DNAJB6 22334415 603511 "Muscular dystrophy, limb-girdle, type 1E" 5780363 ENSG00000166250 CLMP 22155368 615237 Congenital short bowel syndrome 5765427 ENSG00000177119 ANO6 21107324 262890 Scott syndrome 6029953 ENSG00000187323 DCC 20431009 157600 Mirror movements 1 6026070 ENSG00000258947 TUBB3 20074521 600638 "Fibrosis of extraocular muscles, congenital, 3A" 6050846 ENSG00000137869 CYP19A1 12736278 139300 Aromatase excess syndrome 13762869 ENSG00000138622 HCN4 12750403 163800 Sick sinus syndrome 2 13685714 ENSG00000125741 OPA3 15342707 165300 Optic atrophy 3 with cataract 13703570 ENSG00000138823 MTTP 8111381 200100 Abetalipoproteinemia 15411425 ENSG00000115919 KYNU 17334708 236800 Hydroxykynureninuria 14169454 ENSG00000095002 MSH2 11809679 276300 Mismatch repair cancer syndrome 13839882 ENSG00000129991 TNNI3 15070570 611880 "Cardiomyopathy, dilated, 2A" 13687796 ENSG00000128159 TUBGCP6 22279524 251270 "Microcephaly and chorioretinopathy, autosomal recessive, 1" "Koch, G. Genealogisch-demographische Untersuchungen ueber Mikrocephalie in Westfalen. Forschungsberichte des Landes Nordrhein-Westfalen, No. 1963 (pub.) 1968. P. 99 only." ENSG00000049089 COL9A2 21671392 614284 "Stickler syndrome, type V" "G. B. Stickler, D. G. Pugh: Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500. " ENSG00000264229 RNU4ATAC 21474760 210710 "Microcephalic osteodysplastic primordial dwarfism, type I" "Taybi, H., Linder, D. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89: 275-281, 1967." ENSG00000228716 DHFR 21310277 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency "Walters, T. R. Congenital megaloblastic anemia responsive to N(5)-formyltetrahydrofolic acid administration. J. Pediat. 70: 686-687, 1967." ENSG00000228716 DHFR 21310276 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency "Walters, T. R. Congenital megaloblastic anemia responsive to N(5)-formyltetrahydrofolic acid administration. J. Pediat. 70: 686-687, 1967." ENSG00000184058 TBX1 19948535 187500 Tetralogy of Fallot "Lynch, H. T., Tips, R. I., Krush, A. J. Tetralogy of Fallot in two siblings. Am. J. Dis. Child. 11: 304-307, 1966." ENSG00000187045 TMPRSS6 18408718 206200 Iron-refractory iron deficiency anemia "Nash, D. J., Kent, E., Dickie, M. M., Russell, E. S. The inheritance of 'mick,' a new anemia in the house mouse. Am. Zoologist 14: 404-405, 1964." ENSG00000115904 SOS1 17143285 610733 Noonan syndrome 4 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000115904 SOS1 17143282 610733 Noonan syndrome 4 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000132155 RAF1 17603483 611553 Noonan syndrome 5 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000115170 ACVR1 16642017 135100 Fibrodysplasia ossificans progressiva "Viparelli, V. La miosite ossificante progressiva. Ann. Neuropsichiat. Psicoanal. 9: 297-324, 1962." ENSG00000198569 SLC34A3 16358214 241530 Hypophosphatemic rickets with hypercalciuria "Royer, P., Mathieu, H., Gerbeaux, S., Frederich, A., Rodriguez-Soriano, J., Dartois, A. M., Cuisinier, P. L'hypercalciurie idiopathique avec nanisme et alteinte renale chez l'enfant. Ann. Pediat. 38: 147-163, 1962" ENSG00000173226 IQCB1 15723066 609254 Senior-Loken syndrome 5 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000165588 OTX2 15846561 610125 "Microphthalmia, syndromic 5" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173" ENSG00000165588 OTX2 15846561 610125 "Retinal dystrophy, early-onset, with or without pituitary dysfunction" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173" ENSG00000110756 HPS5 12548288 614074 Hermansky-Pudlak syndrome 5 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000166189 HPS6 12548288 614075 Hermansky-Pudlak syndrome 6 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000047579 DTNBP1 12923531 614076 Hermansky-Pudlak syndrome 7 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000074695 LMAN1 9546392 227300 Combined factor V and VIII deficiency "Oeri, J., Matter, M., Isenschmid, H., Hauser, F., Koller, F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brudern. Mod. Probl. Paediatr. 1: 575-588, 1954." ENSG00000124587 PEX6 8670792 614862 Peroxisome biogenesis disorder 4A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000103876 FAH 8028615 276700 "Tyrosinemia, type I" "Himsworth, H. P. Lectures on the Liver and its Diseases. (2nd ed.) Oxford: Blackwell (pub.) 1950." ENSG00000127507 ADGRE2 26841242 125630 Vibratory urticaria 5050327 ENSG00000130449 ZSWIM6 25105228 603671 Acromelic frontonasal dysostosis 5444583 ENSG00000162065 TBC1D24 24291220 220500 DOOR syndrome 5458564 ENSG00000108946 PRKAR1A 21651393 101800 "Acrodysostosis 1, with or without hormone resistance" 6020652 ENSG00000167580 AQP2 8140421 125800 "Diabetes insipidus, nephrogenic" 14785081 ENSG00000091483 FH 11865300 150800 Leiomyomatosis and renal cell cancer 13520698 ENSG00000128422 KRT17 7539673 167210 Pachyonychia congenita 2 14885876 ENSG00000109861 CTSC 10662808 170650 "Periodontitis 1, juvenile" 13322427 ENSG00000139687 RB1 7795591 180200 Retinoblastoma 14868057 ENSG00000168453 HR 9758627 209500 Atrichia with papular lesions 13150805 ENSG00000023839 ABCC2 9425227 237500 Dubin-Johnson syndrome 13193360 ENSG00000136003 ISCU 18304497 255125 "Myopathy with lactic acidosis, hereditary" 14213465 ENSG00000073578 SDHA 7550341 256000 Leigh syndrome 14874135 ENSG00000198947 DMD 8361506 302045 "Cardiomyopathy, dilated, 3B" 18113470 ENSG00000198707 CEP290 16682973 610189 Senior-Loken syndrome 6 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000182636 NDN 11230184 176270 Prader-Willi syndrome "Prader, A., Labhart, A., Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus und Oligophrenie nach Myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med. Wschr. 86: 1260-1261, 1956." ENSG00000180210 F2 10651742 613679 Dysprothrombinemia "Quick, A. J., Pisciotta, A. V., Hussey, C. V. Congenital hypoprothrombinemic states. Arch. Intern. Med. 95: 2-14, 1955." ENSG00000125965 GDF5 9288098 200700 "Chondrodysplasia, Grebe type" "Grebe, H. Die Achondrogenesis: ein einfach rezessives Erbmerkmal. Folia Hered. Path. 2: 23-28, 1952" ENSG00000122126 OCRL 9199559 309000 Lowe syndrome "Lowe, C. U., Terrey, M., MacLachlan, E. A. Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation. Am. J. Dis. Child. 83: 164-184, 1952." ENSG00000108733 PEX12 9090384 614859 Peroxisome biogenesis disorder 3A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000092529 CAPN3 7720071 253600 "Muscular dystrophy, limb-girdle, type 2A" "Pfaendler, U. Eine einfach rezessive Form der Dystrophia musculorum progressiva mit einer Sippenstammtafel aus dem Emmental (Schweiz). Dtsch. Med. Wschr. 75: 1221-1225, 1950" ENSG00000171105 INSR 8105179 246200 Leprechaunism "Donohue, W. L. Dysendocrinism. J. Pediat. 32: 739-748, 1948." ENSG00000104936 DMPK 1346923 160900 Myotonic dystrophy 1 "Bell, J. Dystrophia myotonica and allied disease. In: Penrose, L. S.: Treasury of Human Inheritance. (4th ed.) Cambridge: Cambridge Univ. Press (pub.) 1947. Pp. 343-410." ENSG00000101596 SMCHD1 28067909 603457 Bosma arhinia microphthalmia syndrome 5032329 ENSG00000160688 FLAD1 25058219 255100 Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 4179573 ENSG00000032444 PNPLA6 24355708 215470 Boucher-Neuhauser syndrome 5806782 ENSG00000156471 PTDSS1 24241535 151050 Lenz-Majewski hyperostotic dwarfism 5249155 ENSG00000168028 RPSA 23579497 271400 "Asplenia, isolated congenital" 5685358 ENSG00000110921 MVK 22983302 175900 "Porokeratosis 3, multiple types" 4864722 ENSG00000198380 GFPT1 21310273 610542 "Myasthenia, congenital, 12, with tubular aggregates" 5910898 ENSG00000145623 OSMR 18179886 105250 "Amyloidosis, primary localized cutaneous, 1" 13976058 ENSG00000152591 DSPP 9541230 125500 "Dentinogenesis imperfecta, Shields type III" 13120119 ENSG00000100234 TIMP3 7894485 136900 Sorsby fundus dystrophy 18111349 ENSG00000136574 GATA4 18055909 187500 Tetralogy of Fallot 13943847 ENSG00000143669 LYST 9215680 214500 Chediak-Higashi syndrome 13004553 ENSG00000143669 LYST 9215679 214500 Chediak-Higashi syndrome 13004553 ENSG00000131482 G6PC 8211187 232200 Glycogen storage disease Ia 16748235 ENSG00000070915 SLC12A3 8528245 263800 Gitelman syndrome 14877834 ENSG00000102312 PORCN 17546030 305600 Focal dermal hypoplasia 13948891 ENSG00000104313 EYA1 10655545 602588 Anterior segment anomalies with or without cataract 13269867 ENSG00000141627 DYM 12491225 607326 Smith-McCort dysplasia 13489517 ENSG00000100014 SPECC1L 25412741 145410 "Opitz GBBB syndrome, type II" "Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. The G syndrome of multiple congenital anomalies. Birth Defects Orig. Art. Ser. V(2): 95-101, 1969." ENSG00000125084 WNT1 23499309 615220 "Osteogenesis imperfecta, type XV" "Lane, P. W. Swaying. Mouse News Lett. 36: 40 only, 1967." ENSG00000237412 PRSS56 21397065 613517 "Microphthalmia, isolated 6" "Franceschetti, A., Gernet, H. Diagnostic ultrasonique d'une microphtalmie sans microcornee, avec macrophakie, haute hypermetropie associee a une degenerescence tapeto-retinienne, une disposition glaucomateuse et des anomalies dentaires (nouveau syndrome familial). Arch. Ophtal. Rev. Gen. Ophtal. (Paris) 25: 105-116, 1965." ENSG00000108061 SHOC2 19684605 607721 Noonan-like syndrome with loose anagen hair "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000157764 BRAF 19206169 613706 Noonan syndrome 7 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000107859 PITX3 9620774 107250 "Anterior segment dysgenesis 1, multiple subtypes" "Friedmann, M. W., Wright, E. S. Hereditary microcornea and cataract in 5 generations. Am. J. Ophthal. 35: 1017-1021, 1952." ENSG00000157911 PEX10 9683594 614870 Peroxisome biogenesis disorder 6A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000157911 PEX10 9683594 614871 Peroxisome biogenesis disorder 6B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000121680 PEX16 9837814 614876 Peroxisome biogenesis disorder 8A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000143387 CTSK 8703060 265800 Pycnodysostosis "Seigman, E. L., Kilby, W. C. Osteopetrosis: report of a case and review of recent literature. Am. J. Roentgen. 63: 865-874, 1950." ENSG00000123500 COL10A1 8220429 156500 "Metaphyseal chondrodysplasia, Schmid type" "Schmid, F. Beitrag zur Dysostosis enchondralis metaphysarea. Mschr. Kinderheilk. 97: 393-397, 1949." ENSG00000169083 AR 1598912 312300 "Androgen insensitivity, partial, with or without breast cancer" "Reifenstein, E. C., Jr. Hereditary familial hypogonadism. (Abstract) Proc. Am. Fed. Clin. Res. 3: 86 only, 1946." ENSG00000087460 GNAS 2829196 103580 Pseudohypoparathyroidism Ia "Albright, F., Burnett, C. H., Smith, P. H., Parson, W. Pseudo-hypoparathyroidism--an example of 'Seabright-Bantam syndrome': report of three cases. Endocrinology 30: 922-932, 1942." ENSG00000077782 FGFR1 26942290 613001 Encephalocraniocutaneous lipomatosis 4902772 ENSG00000044115 CTNNA1 26691986 608970 "Macular dystrophy, patterned, 2" 5442145 ENSG00000196230 TUBB 26637975 156610 "Symmetric circumferential skin creases, congenital, 1" 4980758 ENSG00000177082 WDR73 25466283 251300 Galloway-Mowat syndrome 5713646 ENSG00000142949 PTPRF 24781087 616001 "Breasts and/or nipples, aplasia or hypoplasia of, 2" 5635066 ENSG00000123453 SARDH 22825317 268900 Sarcosinemia 5936868 ENSG00000138160 KIF11 22284827 152950 "Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" 5936364 ENSG00000141646 SMAD4 22158539 139210 Myhre syndrome 14272366 ENSG00000130508 PXDN 21907015 269400 "Anterior segment dysgenesis 7, with sclerocornea" 4954614 ENSG00000182872 RBM10 20451169 311900 TARP syndrome 14293686 ENSG00000254647 INS 18192540 125852 "Diabetes mellitus, insulin-dependent, 2" 13937884 ENSG00000036828 CASR 8255296 145980 "Hypocalciuric hypercalcemia, type I" 20290361 ENSG00000081923 ATP8B1 15888793 147480 "Cholestasis, intrahepatic, of pregnancy, 1" 13661186 ENSG00000167995 BEST1 15452077 193220 "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma" 13534955 ENSG00000167995 BEST1 15452077 193220 Vitreoretinochoroidopathy 13534955 ENSG00000168453 HR 9445480 203655 Alopecia universalis 14944849 ENSG00000188021 UBQLN2 21857683 300857 "Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" "DeMyer, W., Harter, D. H., Zeman, W. Familial spasticity, hyperkinesia and dementia: clinicopathologic observations and comments on the nosology of Hallervorden-Spatz disease. Acta Neuropath. 4: 28-45, 1964." ENSG00000110395 CBL 20619386 613563 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000111199 TRPV4 20503319 168400 Parastremmatic dwarfism "Rask, M. R. Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions. J. Bone Joint Surg. Am. 45: 561-570, 1963." ENSG00000213281 NRAS 19966803 613224 Noonan syndrome 6 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000125378 BMP4 18252212 607932 "Microphthalmia, syndromic 6" "Francois, J. Heredity in Ophthalmology. St. Louis: C. V. Mosby (pub.) 1961. P. 173." ENSG00000189114 BLOC1S3 16385460 614077 Hermansky-Pudlak syndrome 8 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000148400 NOTCH1 16025100 109730 Aortic valve disease 1 "McKusick, V. A. Cardiovascular Sound in Health and Disease. Baltimore: Williams and Wilkins (pub.) 1958. Pp. 36-38." ENSG00000111846 GCNT2 12424189 110800 Adult i phenotype without cataract 13292836 ENSG00000154122 ANKH 11326338 123000 Craniometaphyseal dysplasia "Jackson, W. P. U., Albright, F., Drewry, G., Hanelin, J., Rubin, M. I. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954." ENSG00000154122 ANKH 11326272 123000 Craniometaphyseal dysplasia "Jackson, W. P. U., Albright, F., Drewry, G., Hanelin, J., Rubin, M. I. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954." ENSG00000046651 OFD1 11179005 311200 Orofaciodigital syndrome I "Papillon-Leage, Mme, Psaume, J. Dysmorphie des freins buccaux: huit observations. Actual. Odontostomatol. 25: 7-26, 1954." ENSG00000164751 PEX2 10528859 614867 Peroxisome biogenesis disorder 5B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000162928 PEX13 10332040 614883 Peroxisome biogenesis disorder 11A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000162928 PEX13 10441568 614885 Peroxisome biogenesis disorder 11B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000162735 PEX19 10051604 614886 Peroxisome biogenesis disorder 12A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000158578 ALAS2 1570328 300751 "Anemia, sideroblastic, 1" "Cooley, T. B. A severe type of hereditary anemia with elliptocytosis: interesting sequence of splenectomy. Am. J. Med. Sci. 209: 561-568, 1945." ENSG00000166801 FAM111A 23684011 127000 "Kenny-Caffey syndrome, type 2" 5322798 ENSG00000103591 AAGAB 23000146 148600 "Keratoderma, palmoplantar, punctate type IA" 14272392 ENSG00000233608 TWIST2 20691403 227260 "Focal facial dermal dysplasia 3, Setleis type" 14069095 ENSG00000125398 SOX9 8001137 114290 Campomelic dysplasia with autosomal sex reversal 18918277 ENSG00000125398 SOX9 7990924 114290 Campomelic dysplasia 18918277 ENSG00000117595 IRF6 11668635 119300 van der Woude syndrome 13158329 ENSG00000167768 KRT1 11286616 146590 "Ichthyosis histrix, Curth-Macklin type" 14349943 ENSG00000003393 ALS2 11586298 205100 "Amyotrophic lateral sclerosis 2, juvenile" 13133050 ENSG00000003393 ALS2 11586297 205100 "Amyotrophic lateral sclerosis 2, juvenile" 13133050 ENSG00000140199 SLC12A6 12368912 218000 Agenesis of the corpus callosum with peripheral neuropathy 14397896 ENSG00000148290 SURF1 9843204 256000 "Leigh syndrome, due to COX IV deficiency" 14874135 ENSG00000110717 NDUFS8 9837812 256000 Leigh syndrome due to mitochondrial complex I deficiency 14874135 ENSG00000121075 TBX4 15106123 147891 Ischiocoxopodopatellar syndrome "Renwick, J. H. The genetics of the nail-patella syndrome. Ph.D. Thesis: Univ. of London , 1956." ENSG00000174358 SLC6A19 15286787 234500 Hartnup disorder "Baron, D. N., Dent, C. E., Harris, H., Hart, E. W., Jepson, J. B. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria and other bizarre biochemical features. Lancet 268: 421-428, 1956. Note: Originally Volume II." ENSG00000175065 DSG4 12705872 607903 Hypotrichosis 6 "Hanhart, E. Erstmaliger Hinweis auf das Vorkommen eines monohybridrezessiven Erbgangs bei Monilethrix (Moniletrichosis). Arch. Klaus Stift. Vererbungsforsch. 30: 1-11, 1955." ENSG00000072840 EVC 10700184 193530 Weyers acrodental dysostosis "Weyers, H. Ueber eine korrelierte Missbildung der Kiefer und Extremitatenakren (Dysostosis acro-facialis). Fortschr. Geb. Roentgenstr. 77: 562-567, 1952." ENSG00000034693 PEX3 10958759 614882 Peroxisome biogenesis disorder 10A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000112357 PEX7 9090383 215100 "Rhizomelic chondrodysplasia punctata, type 1" "De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949." ENSG00000112357 PEX7 9090382 215100 "Rhizomelic chondrodysplasia punctata, type 1" "De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949." ENSG00000112357 PEX7 9090381 215100 "Rhizomelic chondrodysplasia punctata, type 1" "De Lange, C., Janssen, T. Congenital chondrodystrophia calcificans of infant in association with other abnormalities: case. Maandschr. Kindergeneesk. 17: 67-74, 1949." ENSG00000163581 SLC2A2 9354798 227810 Fanconi-Bickel syndrome "G. Fanconi, H. Bickel: Die chronische Aminoacidurie (Aminosäurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helvetica paediatrica acta, Basel, 1949, 4: 359-396. " ENSG00000120708 TGFBI 9054935 608470 "Corneal dystrophy, Reis-Bucklers type" "Bucklers, M. Ueber eine weitere familiaere Hornhautdystrophie (Reis). Klin. Monatsbl. Augenheilkd. 114: 386-397, 1949." ENSG00000156313 RPGR 8673101 300029 Retinitis pigmentosa 3 "Falls, H. F., Cotterman, C. W. Choroidoretinal degeneration: a sex-linked form in which heterozygous women exhibit a tapetal-like retinal reflex. Arch. Ophthal. 40: 685-703, 1948." ENSG00000011201 ANOS1 1594017 308700 Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) "Kallmann, F. J., Schoenfeld, W. A., Barrera, S. E. The genetic aspects of primary eunuchoidism. Am. J. Ment. Defic. 48: 203-236, 1944." ENSG00000162551 ALPL 3174660 241500 "Hypophosphatasia, infantile" "Macey, H. B. Multiple pseudofractures: report of a case. Proc. Staff Meet. Mayo Clinic 15: 789-791, 1940." ENSG00000125835 SNRPB 25047197 117650 Cerebrocostomandibular syndrome 5928011 ENSG00000105221 AKT2 21979934 240900 Hypoinsulinemic hypoglycemia with hemihypertrophy 13952653 ENSG00000141448 GATA6 20581743 187500 Tetralogy of Fallot 13943847 ENSG00000115020 PIKFYVE 15902656 121850 Corneal fleck dystrophy 13446668 ENSG00000112077 RHAG 18931342 185000 Overhydrated hereditary stomatocytosis 13762977 ENSG00000152661 GJA1 12457340 186100 "Syndactyly, type III" 14361398 ENSG00000139618 BRCA2 15689453 194070 Wilms tumor 13487328 ENSG00000152661 GJA1 11470490 241550 Hypoplastic left heart syndrome 1 13050604 ENSG00000115286 NDUFS7 10330338 256000 Leigh syndrome 14874135 ENSG00000116062 MSH6 17557300 276300 Mismatch repair cancer syndrome 13839882 ENSG00000122512 PMS2 17557300 276300 "Mismatch repair cancer syndrome, " 13839882 ENSG00000076242 MLH1 17440981 276300 Mismatch repair cancer syndrome 13839882 ENSG00000173218 VANGL1 17409324 600145 Caudal regression syndrome 13641302 ENSG00000100749 VRK1 19646678 607596 Pontocerebellar hypoplasia type 1A 13729575 ENSG00000169692 AGPAT2 11967537 608594 "Lipodystrophy, congenital generalized, type 1" 13130666 ENSG00000054282 SDCCAG8 20835237 613615 Senior-Loken syndrome 7 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000062038 CDH3 15805154 225280 "Ectodermal dysplasia, ectrodactyly, and macular dystrophy" "Albrectsen, B., Svendsen, I. B. Hypotrichosis, syndactyly, and retinal degeneration in two siblings. Acta Derm. Venerol. 1: 96-101, 1956." ENSG00000180398 MCFD2 12717434 613625 "Factor V and factor VIII, combined deficiency of" "Oeri, J., Matter, M., Isenschmid, H., Hauser, F., Koller, F. Angeborener Mangel an Faktor V (Parahaemophilie) verbunden mit echter Haemophilie A bei zwei Brudern. Mod. Probl. Paediatr. 1: 575-588, 1954." ENSG00000147804 SLC39A4 12068297 201100 Acrodermatitis enteropathica "Dillaha, C. J., Lorincz, A. L., Aavik, O. R. Acrodermatitis enteropathica: review of the literature and report of a case successfully treated with diodoquin. JAMA 152: 509-512, 1953." ENSG00000124587 PEX6 11355018 614863 Peroxisome biogenesis disorder 4B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000114270 COL7A1 8541842 131850 "Epidermolysis bullosa, pretibial" "Kuske, H. Epidermolysis traumatica, regionar ueber beiden Tibiae zur Atrophie fuhrend, mit dominanter Vererbung. Dermatologica 91: 304-305, 1946." ENSG00000188419 CHM 1598901 303100 Choroideremia "Shapira, T. M., Sitney, J. A. Choroideremia. Am. J. Ophthal. 26: 182-183, 1943." ENSG00000188419 CHM 1302003 303100 Choroideremia "Shapira, T. M., Sitney, J. A. Choroideremia. Am. J. Ophthal. 26: 182-183, 1943." ENSG00000143632 ACTA1 25938801 616852 "Myopathy, scapulohumeroperoneal" 4952447 ENSG00000093072 ADA2 25075847 182410 Sneddon syndrome 14278790 ENSG00000154864 PIEZO2 24726473 248700 Marden-Walker syndrome 4953364 ENSG00000167323 STIM1 23332920 160565 "Myopathy, tubular aggregate 1" 14187309 ENSG00000130283 GDF1 20807224 187500 Tetralogy of Fallot 13943847 ENSG00000027847 B4GALT7 10506123 130070 Ehlers-Danlos syndrome with short stature and limb anomalies 14779259 ENSG00000027847 B4GALT7 10473568 130070 Ehlers-Danlos syndrome with short stature and limb anomalies 14779259 ENSG00000138463 DIRC2 11996788 144700 Renal cell carcinoma 13070329 ENSG00000101311 FERMT1 12668616 173650 Kindler syndrome 13149722 ENSG00000128422 KRT17 9008238 184500 Steatocystoma multiplex 18098741 ENSG00000113971 NPHP3 18371931 208540 Renal-hepatic-pancreatic dysplasia 1 13626573 ENSG00000072121 ZFYVE26 18394578 270700 "Spastic paraplegia 15, autosomal recessive" 14409555 ENSG00000143622 RIT1 23791108 615355 Noonan syndrome 8 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000112357 PEX7 12325024 614879 Peroxisome biogenesis disorder 9B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000197594 ENPP1 9662402 208000 "Arterial calcification, generalized, of infancy, 1" "Menten, M. L., Fetterman, G. H. Coronary sclerosis in infancy: report of three autopsied cases, two in siblings. Am. J. Clin. Path. 18: 805-810, 1948." ENSG00000141837 CACNA1A 8898206 108500 "Episodic ataxia, type 2" "Parker, H. L. Periodic ataxia. In: Hewlett, R. M.; Nevling, A. B.; Minor, J. R.: Collected Papers of the Mayo Clinic. Philadelphia: W. B. Saunders (pub.) 1946. Pp. 642-645." ENSG00000172062 SMN1 7813012 253300 Spinal muscular atrophy-1 "Hanhart, E. Die infantile progressive spinale Muskelatrophie (Werdnig-Hoffmann) als einfach-rezessive, subletale Mutation auf Grund von 29 Faellen in 14 Sippen. Helv. Paediat. Acta 1: 110-133, 1945." ENSG00000135341 MAP3K7 27426734 157800 Cardiospondylocarpofacial syndrome 5901343 ENSG00000032444 PNPLA6 25480986 275400 Oliver-McFarlane syndrome 14318490 ENSG00000154864 PIEZO2 24726473 114300 "Arthrogryposis, distal, type 3" 14335841 ENSG00000105983 LMBR1 24456159 135750 Laurin-Sandrow syndrome 14104303 ENSG00000175535 PNLIP 24262094 614338 Pancreatic lipase deficiency 14169458 ENSG00000184564 SLITRK6 23543054 221200 Deafness and myopia 14042467 ENSG00000167941 SOST 21221996 122860 "Craniodiaphyseal dysplasia, autosomal dominant" 13760661 ENSG00000160789 LMNA 10580070 115200 "Cardiomyopathy, dilated, 1A" 18113470 ENSG00000107779 BMPR1A 9582123 174900 "Juvenile polyposis syndrome, infantile form" 17859198 ENSG00000141646 SMAD4 9582123 174900 "Polyposis, juvenile intestinal" 17859198 ENSG00000074582 BCS1L 11528392 256000 Leigh syndrome 14874135 ENSG00000164258 NDUFS4 11181577 256000 Leigh syndrome 14874135 ENSG00000004455 AK2 19043417 267500 Reticular dysgenesis 13840590 ENSG00000170370 EMX2 8528262 269160 Schizencephaly 21026933 ENSG00000182173 TSEN54 18711368 277470 Pontocerebellar hypoplasia type 2A 13576165 ENSG00000183072 NKX2-5 14607454 614435 Hypoplastic left heart syndrome 2 13050604 ENSG00000157542 KCNJ6 25620207 614098 Keppen-Lubinsky syndrome "Lane, P. W. New mutation: Weaver, wv. Mouse News Lett. 30: 32-33, 1964." ENSG00000182117 NOP10 17507419 224230 "Dyskeratosis congenita, autosomal recessive 1" "Costello, M. J., Buncke, C. M. Dyskeratosis congenita. Arch. Derm. 73: 123-132, 1956." ENSG00000143575 HAX1 17187068 610738 "Neutropenia, severe congenital 3, autosomal recessive" "Kostmann, R. Infantile Genetic Agranulocytosis (agranulocytosis infantilis hereditaria): a new recessive lethal disease in man. Uppsala: Almqvist and Wiksells Boktryckeri (pub.) 1956." ENSG00000215193 PEX26 12851857 614872 Peroxisome biogenesis disorder 7A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000215193 PEX26 12717447 614873 Peroxisome biogenesis disorder 7B "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000107537 PHYH 9326939 266500 Refsum disease "Refsum, S. Heredopathica atactica polyneuritiformis: a familial syndrome not hitherto described. Acta Psychiat. Scand. Suppl. 38: :1-303, 1946." ENSG00000130600 H19 18836444 194071 Wilms tumor 2 13487328 ENSG00000198734 F5 9576178 227400 Factor V deficiency 20293060 ENSG00000265241 RBM8A 17236129 274000 Thrombocytopenia-absent radius syndrome 13418935 ENSG00000099949 LZTR1 25795793 616564 Noonan syndrome 10 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000100485 SOS2 25795793 616559 Noonan syndrome 9 "J. A. Noonan, D.A. Ehmke: Associated noncardiac malformations in children with congenital heart disease. [Abstract] Journal of Pediatrics, St. Louis, 1963, 63: 468-470. " ENSG00000165702 GFI1B 24325358 187900 "Bleeding disorder, platelet-type, 17" "Quick, A. J., Hussey, C. V. Hereditary thrombasthenia-thrombocytopenia. J. Lab. Clin. Med. 60: 1006 only, 1962." ENSG00000196878 LAMB3 23958762 104530 "Amelogenesis imperfecta, type IA" "Steinberg, A. G., Warren, J. F., Warren, L. M. Hereditary generalized microdontia. J. Dent. Res. 40: 58-62, 1961." ENSG00000157796 WDR19 23559409 616307 Senior-Loken syndrome 8 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000104164 BLOC1S6 21665000 614171 Hermansky-pudlak syndrome 9 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000184381 PLA2G6 16783378 256600 Infantile neuroaxonal dystrophy 1 "Seitelberger, F. Eine unbekannte Form von infantiler lipoid-Speicher Krankheit des Gehirns. Proc. 1st Int. Cong. of Neuropathology, Rome, Sept. 8-13, 1952. Vol. 3. Turin: Rosenberg and Sellier (pub.) 1954. Pp. 323-333." ENSG00000159899 NPR2 15146390 602875 "Acromesomelic dysplasia, Maroteaux type" "Grebe, H. Die Achondrogenesis: ein einfach rezessives Erbmerkmal. Folia Hered. Path. 2: 23-28, 1952." ENSG00000142655 PEX14 15146459 614887 Peroxisome biogenesis disorder 13A (Zellweger) "H. U. Zellweger, L. Giaccai, M. Zabnienska: [A case of craniostenosis with multiple epiphyseal abnormalities and luxations.] Helvetica paediatrica acta, Basel, April 1952, 7 (2): 185-192." ENSG00000100299 ARSA 1684088 250100 Metachromatic leukodystrophy "Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939." ENSG00000100299 ARSA 1678251 250100 Metachromatic leukodystrophy "Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939." ENSG00000100299 ARSA 1676699 250100 Metachromatic leukodystrophy "Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939." ENSG00000100299 ARSA 1673291 250100 Metachromatic leukodystrophy "Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939." ENSG00000100299 ARSA 1670590 250100 Metachromatic leukodystrophy "Van Bogaert, L. V., Dewulf, A. Diffuse progressive leukodystrophy in the adult with production of metachromatic degenerative products (Alzheimer-Baroncini). Arch. Neurol. Psychiat. 42: 1083-1097, 1939." ENSG00000126088 UROD 2920211 176100 Porphyria cutanea tarda "Waldenstrom, J. Studien ueber Porphyrie. Acta Med. Scand. 82 (suppl.): 1-254, 1937." ENSG00000126088 UROD 2920211 176100 "Porphyria, hepatoerythropoietic" "Waldenstrom, J. Studien ueber Porphyrie. Acta Med. Scand. 82 (suppl.): 1-254, 1937." ENSG00000101439 CST3 3495457 105150 Cerebral amyloid angiopathy "Arnason, A. Apoplexie und ihre Vererbung. Acta Psychiat. Neurol. 7 (suppl.): 1-180, 1935." ENSG00000171759 PAH 3008810 261600 "Hyperphenylalaninemia, non-PKU mild" "Folling, A. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr. Physiol. Chem. 227: 169-176, 1934." ENSG00000171759 PAH 3008810 261600 Phenylketonuria "Folling, A. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Ztschr. Physiol. Chem. 227: 169-176, 1934." ENSG00000108821 COL1A1 4031065 166200 "Osteogenesis imperfecta, type I" "Bierring, K. Contribution to the perception of osteogenesis imperfecta congenita and osteopsathyrosis idiopathica as identical disorders. Acta Chir. Scand. 70: 481-492, 1933." ENSG00000019186 CYP24A1 21675912 143880 "Hypercalcemia, infantile, 1" 13674824 ENSG00000085840 ORC1 21358633 224690 Meier-Gorlin syndrome 1 13672525 ENSG00000135100 HNF1A 15649945 144700 Renal cell carcinoma 13070329 ENSG00000130600 H19 16086014 180860 Silver-Russell syndrome 13099907 ENSG00000060237 WNK1 15060842 201300 "Neuropathy, hereditary sensory and autonomic, type II" 12976160 ENSG00000131095 GFAP 11138011 203450 Alexander disease 15409268 ENSG00000110719 TCIRG1 10888887 259700 "Osteopetrosis, autosomal recessive 1" 18865120 ENSG00000164904 ALDH7A1 16491085 266100 "Epilepsy, pyridoxine-dependent" 13133562 ENSG00000088451 TGDS 25480037 616145 Catel-Manzke syndrome "Catel, W. Differentialdiagnose von Krankheitssymptomen bei Kindern und Jugendlichen. Vol. 1. (3rd ed.) Stuttgart: G. Thieme (pub.) 1961. Pp. 218-220." ENSG00000104164 BLOC1S6 22461475 614171 Hermansky-pudlak syndrome 9 "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000081248 CACNA1S 8004673 170400 "Hypokalemic periodic paralysis, type 1" "Talbott, J. H. Periodic paralysis: a clinical syndrome. Medicine 20: 85-143, 1941." ENSG00000171867 PRNP 2564168 137440 "Cerebral amyloid angiopathy, PRNP-related" "Gerstmann, J., Straussler, E., Scheinker, I. Ueber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Z. Ges. Neurol. Psychiat. 154: 736-762, 1936." ENSG00000139219 COL2A1 2572591 200610 "Achondrogenesis, type II or hypochondrogenesis" "Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936." ENSG00000213930 GALT 5289034 230400 Galactosemia "Goppert, F. Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronischem Leberleiden. Klin. Wschr. 54: 473-477, 1917." ENSG00000147416 ATP6V1B2 24913193 124480 "Deafness, congenital, with onychodystrophy, autosomal dominant" 13892065 ENSG00000120457 KCNJ5 21311022 613677 "Hyperaldosteronism, familial, type III" 13521591 ENSG00000102575 ACP5 21217755 607944 Spondyloenchondrodysplasia with immune dysregulation 13524805 ENSG00000183454 GRIN2A 20890276 245570 "Epilepsy, focal, with speech disorder and with or without mental retardation" 13451887 ENSG00000107779 BMPR1A 11381269 174900 "Polyposis, juvenile intestinal" 17859198 ENSG00000014919 COX15 15235026 256000 Leigh syndrome due to cytochrome c oxidase deficiency 14874135 ENSG00000213619 NDUFS3 14729820 256000 Leigh syndrome due to mitochondrial complex I deficiency 14874135 ENSG00000204104 TRAF3IP1 26487268 616629 Senior-Loken syndrome 9 "B. Senior, A. I. Friedmann, J. L. Brando: Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. American Journal of Ophthalmology, Chicago, 1961, 52: 625-633. " ENSG00000142173 COL6A2 18852439 255600 "Myosclerosis, congenital" "Lowenthal, A. Un groupe heredodegeneratif nouveau: les myoscleroses heredofamiliales. Acta Neurol. Belg. 54: 155-165, 1954." ENSG00000173040 EVC2 16404586 193530 Weyers acrofacial dysostosis "Weyers, H. Ueber eine korrelierte Missbildung der Kiefer und Extremitatenakren (Dysostosis acro-facialis). Fortschr. Geb. Roentgenstr. 77: 562-567, 1952." ENSG00000077782 FGFR1 15625620 166250 Osteoglophonic dysplasia "Fairbank, T. An Atlas of General Affections of the Skeleton. Edinburgh: Churchill Livingstone (pub.) 1951. Pp. 181-183." ENSG00000198650 TAT 1357662 276600 "Tyrosinemia, type II" "Richner, H. Hornhautaffektion bei Keratoma palmare et plantare hereditarium. Klin. Monatsbl. Augenheilkd. 100: 580-588, 1938." ENSG00000135929 CYP27A1 2019602 213700 Cerebrotendinous xanthomatosis "Van Bogaert, L., Scherer, H. J., Epstein, E. Une forme cerebrale de la cholesterinose generalisee. Paris: Masson (pub.) 1937." ENSG00000125363 AMELX 1916828 301200 "Amelogenesis imperfecta, type 1E" "Haldane, J. B. S. A probable new sex-linked dominant in man. J. Hered. 28: 58-60, 1937." ENSG00000099810 MTAP 22464254 112250 Diaphyseal medullary stenosis with malignant fibrous histiocytoma 13511301 ENSG00000136068 FLNB 14991055 150250 Larsen syndrome 14779259 ENSG00000160789 LMNA 10587585 151660 "Lipodystrophy, familial partial, type 2" 20982387 ENSG00000143382 ADAMTSL4 19200529 225100 "Ectopia lentis, isolated, autosomal recessive" 14388006 ENSG00000009765 IYD 18434651 274800 Thyroid dyshormonogenesis 4 13183981 ENSG00000107890 ANKRD26 21211618 188000 Thrombocytopenia 2 "Wooley, E. J. S. Familial idiopathic thrombocytopenic purpura. Brit. Med. J. 1: 440 only, 1956." ENSG00000134324 LPIN1 18817903 268200 "Myoglobinuria, acute recurrent, autosomal recessive" "Hed, R. Myoglobinuria. Arch. Intern. Med. 92: 825-832, 1953." ENSG00000172062 SMN1 8782046 253550 Spinal muscular atrophy-2 "Haldane, J. B. S. The relative importance of principal and modifying genes in determining some human diseases. J. Genet. 41: 149-157, 1941." ENSG00000156150 ALX3 19409524 136760 Frontonasal dysplasia 1 13206986 ENSG00000100345 MYH9 10973259 155100 May-Hegglin anomaly 21009925 ENSG00000135899 SP110 16648851 235550 Hepatic venoocclusive disease with immunodeficiency 14868767 ENSG00000100345 MYH9 10973259 155100 Sebastian syndrome 21009925 ENSG00000187498 COL4A1 25228067 180000 "Retinal arteries, tortuosity of" "Beyer, E. Familiaere Tortuositas der kleinen Netzhautarterien mit Makulablutung (Familial tortuosity of the small retinal arteries with macular hemorrhage). Klin. Monatsbl. Augenheilkd. 132: 532-539, 1958." ENSG00000160957 RECQL4 15964893 218600 Baller-Gerold syndrome "aller, F. Radiusaplasie und Inzucht. Z. Menschl. Vererb. Konstitutionsl. 29: 782-790, 1950." ENSG00000132464 ENAM 11487571 104500 "Amelogenesis imperfecta, type IB" "Weinmann, J. P., Svoboda, J. F., Woods, R. W. Hereditary disturbances of enamel formation and calcification. J. Am. Dent. Assoc. 32: 397-418, 1945." ENSG00000091138 SLC26A3 11524734 214700 "Diarrhea 1, secretory chloride, congenital" "Darrow, D. C. Congenital alkalosis with diarrhea. J. Pediat. 26: 519-532, 1945." ENSG00000140521 POLG 11431686 258450 "Progressive external ophthalmoplegia, autosomal recessive 1" "Franceschetti, A., De Morsier, G., Klein, D. Ueber eine neue mit Ophthalmoplegia externa progressiva kombinierte infantile Form von zerebellarer Heredoataxie (P. Marie) bei vier Geschwistern. Arch. Klaus Stift. Vererbungsforsch. 20 (suppl.): 59-81, 1945." ENSG00000003393 ALS2 11586298 606353 "Primary lateral sclerosis, juvenile" "Stark, F. M., Moersch, F. P. Primary lateral sclerosis: a distinct clinical entity. J. Nerv. Ment. Dis. 102: 332-337, 1945." ENSG00000183196 CHST6 11017086 217800 Macular corneal dystrophy "Blum, J. D. Relations entre les degenerescences heredo-familiales et les opacites congenitales de la cornee (etude clinique et genealogique). Ophthalmologica 109: 123-136, 1944." ENSG00000187079 TEAD1 7795606 108985 Sveinsson chorioretinal atrophy "Sveinsson, K. Chorioiditis areata. Acta Ophthal. 17: 73-80, 1939." ENSG00000152591 DSPP 7573043 125490 "Dentinogenesis imperfecta, Shields type II" "Roberts, E., Schour, I. Hereditary opalescent dentine--dentinogenesis imperfecta. Am. J. Orthodont. 25: 267-276, 1939." ENSG00000152661 GJA1 25168385 104100 Palmoplantar keratoderma with congenital alopecia 13834517 ENSG00000179981 TSHZ1 22152683 607842 "Aural atresia, congenital" 13259384 ENSG00000164022 AIMP1 21092922 260600 "Leukodystrophy, hypomyelinating, 3" 13205987 ENSG00000174437 ATP2A2 12542527 101900 Acrokeratosis verruciformis 20251558 ENSG00000065000 AP3D1 26744459 617050 "Hermansky-Pudlak syndrome 10," "F. Hermansky, P. Pudlak: Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood, New York, 1959, 14: 162-169. " ENSG00000172867 KRT2 7524919 146800 Ichthyosis bullosa of Siemens "Siemens, H. W. Dichtung und Wahrheit ueber die Ichthyosis bullosa, mit Bemerkungen zur Systematik der Epidermolysen. Arch. Derm. Syph. 175: 590-608, 1937" ENSG00000015285 WAS 8069912 301000 Wiskott-Aldrich syndrome "Wiskott, A. Familiarer, angeborener Morbus Werlhofii? Mschr. Kinderheilk. 68: 212-216, 1937." ENSG00000157404 KIT 1717985 172800 Piebaldism "Keeler, C. E. The heredity of a congenital white spotting in Negroes. JAMA 103: 179-180, 1934." ENSG00000204103 MAFB 22387013 166300 Multicentric carpotarsal osteolysis syndrome 13263344 ENSG00000135318 NT5E 21288095 211800 Calcification of joints and arteries 13149051 ENSG00000154803 FLCN 15657874 173600 "Pneumothorax, primary spontaneous" 18867168 ENSG00000244682 FCGR2C 17827395 188030 "Thrombocytopenic purpura, autoimmune" 14850832 ENSG00000131495 NDUFA2 18513682 256000 Leigh syndrome due to mitochondrial complex I deficiency 14874135 ENSG00000147894 C9orf72 21944779 105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 "Robertson, E. E. Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment. Arch. Neurol. Psychiat. 69: 197-207, 1953." ENSG00000147894 C9orf72 21944778 105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 "Robertson, E. E. Progressive bulbar paralysis showing heredofamilial incidence and intellectual impairment. Arch. Neurol. Psychiat. 69: 197-207, 1953." ENSG00000184675 AMER1 19079258 300373 Osteopathia striata with cranial sclerosis "Fairbank, T. An Atlas of General Affections of the Skeleton. Baltimore: Williams and Wilkins (pub.) 1951." ENSG00000000971 CFH 18252232 126700 Basal laminar drusen "Evans, P. J. Five cases of familial retinal abiotrophy. Trans. Ophthal. Soc. U.K. 70: 96, 1950." ENSG00000120370 GORAB 18997784 231070 Geroderma osteodysplasticum "Bamatter, F., Franceschetti, A., Klein, D., Sierro, A. Gerodermie osteodysplastique hereditaire. Ann. Pediat. 174: 126-127, 1950." ENSG00000128714 HOXD13 12649808 113300 "Brachydactyly, type E" "Brailsford, J. F. Familial brachydactyly. Brit. J. Radiol. 18: 167-172, 1945." ENSG00000164099 PRSS12 12459588 249500 "Mental retardation, autosomal recessive 1" "Friedman, A. P., Roy, J. E. An unusual familial syndrome. J. Nerv. Ment. Dis. 99: 42-44, 1944." ENSG00000174437 ATP2A2 10441323 124200 Darier disease "Hitch, J. M., Callaway, J. L., Moseley, V. Familial Darier's disease (keratosis follicularis). Sth. Med. J. 34: 578-586, 1941." ENSG00000144191 CNGA3 9662398 216900 Achromatopsia 2 "Holm, E., Lodberg, C. V. Family with total color-blindness. Acta Ophthal. 18: 224-258, 1940." ENSG00000187242 KRT12 9171831 122100 Meesmann corneal dystrophy "Meesmann, A., Wilke, F. Klinische und anatomische Untersuchungen ueber eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut. Klin. Monatsbl. Augenheilkd. 103: 361-391, 1939." ENSG00000105664 COMP 7670472 132400 "Epiphyseal dysplasia, multiple, 1" "Ribbing, S. Studien ueber hereditaere, multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937." ENSG00000105664 COMP 7670471 132400 "Epiphyseal dysplasia, multiple, 1" "Ribbing, S. Studien ueber hereditaere, multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937." ENSG00000102174 PHEX 7550339 307800 "Hypophosphatemic rickets, X-linked dominant" "Albright, F., Butler, A. M., Bloomberg, E. Rickets resistant to vitamin D therapy. Am. J. Dis. Child. 54: 529-547, 1937." ENSG00000135903 PAX3 1347148 193500 "Waardenburg syndrome, type 1" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000171298 GAA 2203258 232300 Glycogen storage disease II "Pompe, J. C. Over idiopathische hypertrophie van het hart. Ned. Tijdschr. Geneeskd. 76: 304-312, 1932." ENSG00000129667 RHBDF2 22265016 148500 Tylosis with esophageal cancer 13209063 ENSG00000015133 CCDC88C 21031079 236600 "Hydrocephalus, nonsyndromic, autosomal recessive" 13019226 ENSG00000130283 GDF1 20413652 208530 Right atrial isomerism 14929628 ENSG00000163635 ATXN7 7477379 164500 Spinocerebellar ataxia 7 "Froment, J., Bonnet, P., Colrat, A. Heredo-degenerations retinienne et spino-cerebelleuse: variantes ophtalmoscopiques et neurologiques presentees par trois generations successives. J. Med. Lyon 153-163, 1937." ENSG00000152661 GJA1 23951358 218400 "Craniometaphyseal dysplasia, autosomal recessive" "Jackson, W. P. U., Hanelin, J., Albright, F. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions: familial metaphyseal dysplasia and craniometaphyseal dysplasia: their relation to leontiasis ossea and osteopetrosis: disorders of 'bone remodeling'. Arch. Intern. Med. 94: 871-885, 1954." ENSG00000133835 HSD17B4 20673864 233400 Perrault syndrome 1 "Perrault, M., Klotz, B., Housset, E. Deux cas de syndrome de Turner avec surdi-mutite dans une meme fratrie. Bull. Mem. Soc. Med. Hop. Paris 16: 79-84, 1951." ENSG00000176692 FOXC2 11078474 153400 Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus "Bloom, D. Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J. Med. 41: 856-863, 1941." ENSG00000176692 FOXC2 11078474 153400 Lymphedema-distichiasis syndrome "Bloom, D. Hereditary lymphedema (Nonne-Milroy-Meige). Report of a family with hereditary lymphedema associated with ptosis of the eyelids in several generations. New York J. Med. 41: 856-863, 1941." ENSG00000156574 NODAL 9354794 270100 "Heterotaxy, visceral, 5" "Cockayne, E. A. The genetics of transposition of the viscera. Quart. J. Med. 7: 479-493, 1938." ENSG00000135903 PAX3 8447316 148820 "Waardenburg syndrome, type 3" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000101846 STS 3474618 308100 "Ichthyosis, X-linked" "Csorsz, K. Ichthyosis (X-linked). Mschr. Unfallheilk. Med. 2: 180, 1928. Note: Alternate: Haut. Geschlechtskr. 26: 463, 1928." ENSG00000102030 NAA10 24431331 309800 "Microphthalmia, syndromic 1" 13300470 ENSG00000170477 KRT4 7493030 193900 White sponge nevus 1 "Cannon, A. B. White sponge nevus of the mucosa (naevus spongiosus albus mucosae). Arch. Derm. Syph. 31: 365-370, 1935." ENSG00000162738 VANGL2 20558380 182940 Neural tube defects "Record, R. G., McKeown, T. Congenital malformation of the central nervous system. III. Risk of malformations in sibs of malformed individuals. Brit. J. Prev. Soc. Med. 4: 217-220, 1950." ENSG00000069011 PITX1 18950742 119800 "Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly" "Book, J. A. A contribution to the genetics of congenital clubfoot. Hereditas 34: 289-300, 1948." ENSG00000088836 SLC4A11 16767101 217700 "Corneal endothelial dystrophy, autosomal recessive" "Redmond, S. P. Three sisters showing congenital opacities in the cornea. Trans. Ophthal. Soc. U.K. 66: 367-368, 1946." ENSG00000108821 COL1A1 15864348 114000 Caffey disease "Caffey, J., Silverman, W. Infantile cortical hyperostosis, preliminary report on new syndrome. Am. J. Roentgen. 54: 1-16, 1945." ENSG00000147100 SLC16A2 14661163 300523 Allan-Herndon-Dudley syndrome "Allan, W., Herndon, C. N., Dudley, F. C. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am. J. Ment. Defic. 48: 325-334, 1944." ENSG00000130714 POMT1 12369018 236670 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" "Walker, A. E. Lissencephaly. Arch. Neurol. Psychiat. 48: 13-29, 1942." ENSG00000132781 MUTYH 10192393 132600 "Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas" "Kawamura, T., Sekimura, T. Zwei Faelle von bei Bruder and Schwester vorkommendem verkalktem Epitheliom. Jpn. J. Derm. Urol. 45: 41 only, 1939." ENSG00000196459 TRAPPC2 10431248 313400 Spondyloepiphyseal dysplasia tarda "Jacobsen, A. W. Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations. JAMA 113: 121-124, 1939." ENSG00000109501 WFS1 9817917 222300 Wolfram syndrome "Wolfram, D. J., Wagener, H. P. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin. Proc. 13: 715-718, 1938." ENSG00000163132 MSX1 8696335 106600 "Tooth agenesis, selective, 1, with or without orofacial cleft" "Gruneberg, H. Two independent inherited tooth anomalies in one family. J. Hered. 27: 225-228, 1936." ENSG00000171867 PRNP 8698234 137440 Gerstmann-Straussler disease "Gerstmann, J., Straussler, E., Scheinker, I. Ueber eine eigenartige hereditaer-familiaere Erkrankung des Zentralnervensystems. Z. Ges. Neurol. Psychiat. 154: 736-762, 1936." ENSG00000155850 SLC26A2 8528239 600972 Achondrogenesis Ib "Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936." ENSG00000187098 MITF 7874167 193510 "Waardenburg syndrome, type 2A" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000136160 EDNRB 8001158 277580 "Waardenburg syndrome, type 4A" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000137845 ADAM10 23666529 615537 Reticulate acropigmentation of Kitamura 13068777 ENSG00000184752 NDUFA12 21617257 256000 Leigh syndrome due to mitochondrial complex 1 deficiency 14874135 ENSG00000149922 TBX6 23335591 122600 Spondylocostal dysostosis 5 "Van de Sar, A. Hereditary multiple hemivertebrae. Doc. Med. Geograph. Trop. 4: 23-28, 1952." ENSG00000010361 FUZ 21840926 182940 Neural tube defects "Record, R. G., McKeown, T. Congenital malformation of the central nervous system. III. Risk of malformations in sibs of malformed individuals. Brit. J. Prev. Soc. Med. 4: 217-220, 1950." ENSG00000130158 DOCK6 21820096 614219 Adams-Oliver syndrome 2 "Kahn, E. A., Olmedo, L. Congenital defect of the scalp: with a note on the closure of the scalp defects in general. Plast. Reconstr. Surg. 6: 435-440, 1950." ENSG00000174842 GLMN 11845407 138000 Glomuvenous malformations "Kaufman, L. R., Clark, W. T. Glomus tumors: report of 4 cases in same family. Ann. Surg. 114: 1102-1105, 1941." ENSG00000162711 NLRP3 11687797 120100 Familial cold-induced inflammatory syndrome 1 "Kile, R. L., Rusk, H. A. A case of cold urticaria with unusual family history. JAMA 114: 1067-1068, 1940." ENSG00000017260 ATP2C1 10615129 169600 Hailey-Hailey disease "Hailey, H., Hailey, H. Familial benign chronic pemphigus: report of 13 cases in 4 generations of a family and report of 9 additional cases in 4 generations of a family. Arch. Derm. Syphilol. 39: 679-685, 1939. Note: See Also: Arch. Derm. 118: 774-780, 1982." ENSG00000105372 RPS19 9988267 105650 Diamond-Blackfan anemia 1 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000090932 DLL3 10364530 277300 "Spondylocostal dysostosis 1, autosomal recessive" "Jarcho, S., Levin, P. M. Hereditary malformation of the vertebral bodies. Bull. Johns Hopkins Hosp. 62: 216-226, 1938." ENSG00000165699 TSC1 9529362 606690 Lymphangioleiomyomatosis "Van Stossel, E. Ueber muskulare cirrhose der lunge. Beitr. Klin. Tuberk. 90: 432-442, 1937." ENSG00000164093 PITX2 8944018 180500 "Axenfeld-Rieger syndrome, type 1" "Rieger, H. Beitraege zur Kenntnis seltener Missbildungen der Iris: ueber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 133: 602-635, 1935." ENSG00000160801 PTH1R 7701349 156400 "Metaphyseal chondrodysplasia, Murk Jansen type" "Jansen, M. Ueber atypische Chondrodystrophie (Achondroplasie) und ueber eine noch nicht beschriebene angeborene Wachstumsstoerung des Knochensystems: Metaphysaere Dysostosis. Z. Orthop. Chir. 61: 253-286, 1934." ENSG00000090382 LYZ 8464497 105200 "Amyloidosis, renal" "Ostertag, B. Demonstration einer eigenartigen familiaeren Paramyloidose. Zbl. Path. 56: 253-254, 1932." ENSG00000171867 PRNP 2563037 123400 Creutzfeldt-Jakob disease "Heidenhain, A. Klinische und anatomische Untersuchungen uber eine eigenartige organische Erkrankung des Zentralnervensystems im Praesenium. Z. Gesamte Neurologie Psychiatrie. 118: 49-114, 1928." ENSG00000139180 NDUFA9 22114105 256000 Leigh syndrome due to mitochondrial complex I deficiency 14874135 ENSG00000149541 B3GAT3 21763480 245600 "Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects" 14779259 ENSG00000139219 COL2A1 17394019 150600 Legg-Calve-Perthes disease 20988421 ENSG00000103241 FOXF1 19500772 265380 Alveolar capillary dysplasia with misalignment of pulmonary veins 18874417 ENSG00000181027 FKRP 15121789 613153 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" "A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29." ENSG00000109501 WFS1 12107816 614296 "Wolfram-like syndrome, autosomal dominant" "Samuelson, A. Familjart upptradande synnervsatrofi och dovhet. Nordisk Med. (Hygiea) 6: 769-772, 1940." ENSG00000155850 SLC26A2 10465113 226900 "Epiphyseal dysplasia, multiple, 4" "Ribbing, S. Studien ueber hereditaere multiple Epiphysenstoerungen. Acta Radiol. Suppl. 34: 7-107, 1937." ENSG00000165699 TSC1 9242607 191100 Tuberous sclerosis-1 "Gunther, M., Penrose, L. S. Genetics of epiloia. J. Genet. 31: 413-430, 1935." ENSG00000124205 EDN3 8630502 613265 "Waardenburg syndrome, type 4B" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000049167 ERCC8 7664335 216400 "Cockayne syndrome, type A" "Cockayne, E. A. Inherited Abnormalities of the Skin and its Appendages. London: Oxford Univ. Press (pub.) 1933." ENSG00000108381 ASPA 8252036 271900 Canavan disease "M. M. Canavan: Schilder's encephalitis periaxialis diffusa. Report of a case in a child aged sixteen and one-half months. Archives of Neurology and Psychiatry, Chicago, 1931, 25: 299-308. " ENSG00000170266 GLB1 1928092 253010 Mucopolysaccharidosis type IVB (Morquio) "Morquio, L. Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediat. Paris 27: 145-152, 1929." ENSG00000110799 VWF 3258663 277480 "von Willibrand disease, type 3" "von Willebrand, E. A. Hereditar pseudohemofili. Finska Lakar. Hand. 68: 87-112, 1926" ENSG00000182578 CSF1R 22197934 221820 "Leukoencephalopathy, diffuse hereditary, with spheroids" 18153924 ENSG00000125398 SOX9 19449405 114290 Acampomelic campomelic dysplasia 18918277 ENSG00000180921 FAM83H 18252228 130900 "Amelogenesis imperfecta, type III" "Weinmann, J. P., Svoboda, J. F., Woods, R. W. Hereditary disturbances of enamel formation and calcification. J. Am. Dent. Assoc. 32: 397-418, 1945." ENSG00000239672 NME1 18334619 256700 Neuroblastoma "Dodge, H. J., Benner, M. C. Neuroblastoma of the adrenal medulla in siblings. Rocky Mt. Med. J. 42: 35-38, 1945." ENSG00000215612 HMX1 18423520 612109 Oculoauricular syndrome "Franceschetti, A., Valerio, M. Malformations associees des yeux et des oreilles. Confin. Neurol. 6: 255-257, 1945." ENSG00000009830 POMT2 15894594 613150 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" "A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29." ENSG00000134086 VHL 11987242 263400 "Erythrocytosis, familial, 2" "Nadler, S. B., Cohn, I. Familial polycythemia. Am. J. Med. Sci. 198: 41-48, 1939." ENSG00000001631 KRIT1 10508515 116860 Cerebral cavernous malformations-1 "Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936." ENSG00000122735 DNAI1 10577904 244400 "Ciliary dyskinesia, primary, 1, with or without situs inversus" "Kartagener, M., Horlacher, A. Situs viscerum inversus und Polyposis nasi in einem Falle familiaerer Bronchiektasien. Beitr. Klin. Tuberk. 87: 331-333, 1936." ENSG00000077498 TYR 9158138 103470 "Waardenburg syndrome/albinism, digenic" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000187098 MITF 9158138 103470 "Waardenburg syndrome/ocular albinism, digenic" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000070814 TCOF1 8875242 154500 Treacher Collins syndrome 1 "Collins, E. T. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of the malar bones. Trans. Ophthal. Soc. U.K. 20: 190-192, 1933." ENSG00000100243 CYB5R3 7668255 250800 "Methemoglobinemia, type II" "Hitzenberger, K. Autotoxic cyanosis due to intraglobular methemoglobinemia. Wien. Arch. Med. 23: 85-96, 1932." ENSG00000106571 GLI3 1650914 175700 Greig cephalopolysyndactyly syndrome "Greig, D. M. Oxycephaly. Edinburgh Med. J. 33: 189-218, 1928." ENSG00000134250 NOTCH2 21378985 102500 Hajdu-Cheney syndrome 18918373 ENSG00000164690 SHH 19533790 269160 Schizencephaly 21026933 ENSG00000188153 COL4A5 2349482 301050 Alport syndrome 20773074 ENSG00000143368 SF3B4 22541558 154400 "Acrofacial dysostosis 1, Nager type" "Nager, F. R., de Reynier, J. P. Das Gehoerorgan bei den angeborenen Kopfmissbildungen. Pract. Otorhinolaryng. 10 (suppl. 2): 1-128, 1948." ENSG00000153029 MR1 15262732 118800 Paroxysmal nonkinesigenic dyskinesia "Mount, L. A., Reback, S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940." ENSG00000132470 ITGB4 12485428 131800 Epidermolysis bullosa of hands and feet "Cockayne, E. A. Recurrent bullous eruption of the feet. Brit. J. Derm. Syph. 50: 358-362, 1938." ENSG00000070748 CHAT 11172068 254210 "Myasthenic syndrome, congenital, 6, presynaptic" "Rothbart, H. B. Myasthenia gravis in children: its familial incidence. JAMA 108: 715-717, 1937." ENSG00000001631 KRIT1 10814716 116860 Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations "Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936." ENSG00000100146 SOX10 9462749 613266 "Waardenburg syndrome, type 4C" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000104899 AMH 2023927 261550 "Persistent Mullerian duct syndrome, type I" "Von Seemen, H. Pseudohermaphroditismus masculinus internus-kryptochismus-Hernia inguinalis congenita. Bruns' Beitr. Klin. Chir. 141: 370-379, 1927." ENSG00000138083 SIX3 20157829 269160 Schizencephaly 21026933 ENSG00000185303 SFTPA2 19100526 178500 "Pulmonary fibrosis, idiopathic" "Hamman, L., Rich, A. R. Acute diffuse interstitial fibrosis of the lungs. Bull. Johns Hopkins Hosp. 74: 177-212, 1944." ENSG00000133424 LARGE1 17436019 613154 "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" "A. E. Walker: Lissencephaly. Archives of Neurology and Psychiatry, Chicago, 1942, 48: 13-29." ENSG00000113368 LMNB1 16951681 169500 "Leukodystrophy, adult-onset, autosomal dominant" "Camp, C. D., Lowenberg, K. An American family with Pelizaeus-Merzbacher disease. Arch. Neurol. Psychiat. 45: 261-264, 1941." ENSG00000117984 CTSD 16685649 610127 "Ceroid lipofuscinosis, neuronal, 10" "Norman, R. M., Wood, N. A congenital form of amaurotic family idiocy. J. Neurol. Psychiat. 4: 175-190, 1941." ENSG00000147852 VLDLR 16080122 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 "Norman, R. M. Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 63: 365-379, 1940." ENSG00000117595 IRF6 12219090 119500 Popliteal pterygium syndrome 1 "Kopits, E. Die als 'Flughaut' bezeichneten Missbildungen und deren operative Behandlung (Musculo-dysplasia congenita). Arch. Orthop. Unfallchir. 37: 539-541, 1937." ENSG00000100146 SOX10 10441344 611584 "Waardenburg syndrome, type 2E, with or without neurologic involvement" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000158169 FANCC 1574115 227645 "Fanconi anemia, complementation group C" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000244734 HBB 78154 603903 Sickle cell anemia "Herrick, J. B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch. Intern. Med. 6: 517-521, 1910." ENSG00000244734 HBB 49057 603903 Sickle cell anemia "Herrick, J. B. Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. Arch. Intern. Med. 6: 517-521, 1910." ENSG00000130595 TNNT3 12865991 601680 "Arthyrgryposis, distal, type 2B" 21032118 ENSG00000130598 TNNI2 12592607 601680 "Arthrogryposis multiplex congenita, distal, type 2B" 21032118 ENSG00000031081 ARHGAP31 21565291 100300 Adams-Oliver syndrome 1 "Adams, F. H., Oliver, C. P. Hereditary deformities in man due to arrested development. J. Hered. 36: 3-7, 1945." ENSG00000001631 KRIT1 11831930 116860 Cavernous malformations of CNS and retina "Michael, J. C., Levin, P. M. Multiple telangiectases of brain: a discussion of hereditary factors in their development. Arch. Neurol. Psychiat. 36: 514-536, 1936." ENSG00000062038 CDH3 11544476 601553 "Hypotrichosis, congenital, with juvenile macular dystrophy" "Wagner, H. Maculaaffektion, vergesellschaftet mit Haarabnormitat von Lanugotypus, beide vielleicht angeboren bei zwei Geschwistern. Graefes Arch. Klin. Exp. Ophthal. 134: 74-81, 1935." ENSG00000100146 SOX10 10762540 609136 PCWH syndrome "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000136156 ITM2B 10391242 176500 "Dementia, familial British" "Worster-Drought, C., Hill, T. R., McMenemey, W. H. Familial presenile dementia with spastic paralysis. J. Neurol. Psychopath. 14: 27-34, 1933." ENSG00000100243 CYB5R3 9695975 250800 "Methemoglobinemia, type I" "Hitzenberger, K. Autotoxic cyanosis due to intraglobular methemoglobinemia. Wien. Arch. Med. 23: 85-96, 1932." ENSG00000102218 RP2 9697692 312600 Retinitis pigmentosa 2 "Waardenburg, P. J. Das menschliche Auge und seine Erbanlagen. 'S-Gravenhage: Martinus Nijhoff (pub.) 1932." ENSG00000054598 FOXC1 9620769 601631 "Anterior segment dysgenesis 3, multiple subtypes" "Berg, F. Erbliches jugendliches Glaukom. Acta Ophthal. 10: 568-587, 1932." ENSG00000122691 TWIST1 8988167 101400 Saethre-Chotzen syndrome "Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931." ENSG00000122691 TWIST1 8988166 101400 Saethre-Chotzen syndrome "Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931." ENSG00000225614 ZNF469 18452888 229200 Brittle cornea syndrome 1 "Badtke, G. Ueber einen eigenartigen Fall von Keratokonus und blauen Skleren bei Geschwistern. Klin. Monatsbl. Augenheilkd. 106: 585-592, 1941." ENSG00000038427 VCAN 16043844 143200 Wagner syndrome 1 "Wagner, H. Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich. Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938." ENSG00000145476 CYP4V2 15042513 210370 Bietti crystalline corneoretinal dystrophy "Bietti, G. Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen. Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937." ENSG00000204370 SDHD 10657297 168000 "Paragangliomas 1, with or without deafness" "Chase, W. H. Familial and bilateral tumours of the carotid body. J. Path. Bact. 36: 1-12, 1933." ENSG00000066468 FGFR2 9585583 101400 Saethre-Chotzen syndrome "Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931." ENSG00000141012 GALNS 8651279 253000 Mucopolysaccharidosis IVA "Morquio, L. Sur une forme de dystrophie osseuse familiale. Bull. Soc. Pediat. Paris 27: 145-152, 1929." ENSG00000110799 VWF 8456432 193400 "von Willebrand disease, type 1" "von Willebrand, E. A. Hereditar pseudohemofili. Finska Lakar. Hand. 68: 87-112, 1926." ENSG00000161904 LEMD2 26788539 212500 "Cataract 46, juvenile-onset" 18143024 ENSG00000174804 FZD4 12172548 133780 Exudative vitreoretinopathy 1 18169329 ENSG00000113721 PDGFRB 23731537 228550 "Myofibromatosis, infantile, 1" "Touraine, A., Ruel, H. La polyfibromatose hereditaire. Ann. Derm. Syph. 29: 1-5, 1945." ENSG00000105983 LMBR1 18417549 186200 "Syndactyly, type IV" "Haas, S. L. Bilateral complete syndactylism of all fingers. Am. J. Surg. 50: 363-366, 1940." ENSG00000186081 KRT5 16465624 179850 Dowling-Degos disease 1 "Dowling, G. B., Freudenthal, W. Acanthosis nigricans. Brit. J. Derm. 50: 467-471, 1938" ENSG00000138326 RPS24 17186470 610629 Diamond-blackfan anemia 3 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000019549 SNAI2 12444107 608890 "Waardenburg syndrome, type 2D" "P. J. Waardenburg: Eine merkwürdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1934, 92: 29-44." ENSG00000127990 SGCE 11528394 159900 "Dystonia-11, myoclonic" "Lindermulder, F. G. Familial myoclonia occurring in three successive generations. J. Nerv. Ment. Dis. 77: 489-491, 1933." ENSG00000225830 ERCC6 10767341 278800 De Sanctis-Cacchione syndrome "de Sanctis, C., Cacchione, A. L'idiozia xerodermica. Rivista Sperimentale di Freniatria e Medicina Legale delle Alienazioni Mentali 56: 269-292, 1932." ENSG00000136944 LMX1B 9590287 161200 Nail-patella syndrome "Oesterreicher, W. Gemeinsame Vererbung von Anonychie bzw. Onychatrophie, Patellardefekt und Luxatio radii. Dominantes Auftreten in 5 Generationen. Ztschr. Konstitutionslehre 15: 465-476, 1930." ENSG00000162688 AGL 8755644 232400 "Glycogen storage disease IIIa, Glycogen storage disease IIIb" "van Creveld, S. Over een bijzondere stoornis in de koolhydraatstof-Wisseling in den kinderleeftijd. Nederl. Maandschr. Geneesk 8: 349-359, 1928." ENSG00000114270 COL7A1 8170945 131750 "Epidermolysis bullosa dystrophica, AD" "Hoffman, E. Ueber den erbgang bei epidermolysis bullosa hereditaria. Arch. Rassen Gesellsch. Biol. 18: 353-368, 1926." ENSG00000185499 MUC1 23396133 174000 Medullary cystic kidney disease 1 "Thorn, G. W., Koepf, G. F., Clinton, M. Renal failure simulating adrenocortical insufficiency. New Eng. J. Med. 231: 76-85, 1944." ENSG00000182774 RPS17 17647292 612527 Diamond-Blackfan anemia 4 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000158813 EDA 16583127 313500 "Tooth agenesis, selective, X-linked 1" "Dahlberg, A. A. Inherited congenital absence of six incisors, deciduous and permanent. J. Dent. Res. 16: 59-62, 1937." ENSG00000115339 GALNT3 15133511 211900 "Tumoral calcinosis, hyperphosphatemic, familial" "Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935." ENSG00000019549 SNAI2 12955764 172800 Piebaldism "Keeler, C. E. The heredity of a congenital white spotting in Negroes. JAMA 103: 179-180, 1934." ENSG00000167207 NOD2 11385576 266600 "Inflammatory bowel disease 1, Crohn disease" "B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329." ENSG00000185960 SHOX 9590293 127300 Leri-Weill dyschondrosteosis "Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929." ENSG00000185960 SHOX 9590293 127300 Leri-Weill dyschondrosteosis "Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929." ENSG00000185960 SHOX 9590292 127300 Leri-Weill dyschondrosteosis "Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929." ENSG00000185960 SHOX 9590292 127300 Leri-Weill dyschondrosteosis "Leri, A., Weill, J. Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull. Mem. Soc. Med. Hop. Paris. 53: 1491-1494, 1929." ENSG00000135409 AMHR2 8872466 261550 "Persistent Mullerian duct syndrome, type II" "Von Seemen, H. Pseudohermaphroditismus masculinus internus-kryptochismus-Hernia inguinalis congenita. Bruns' Beitr. Klin. Chir. 141: 370-379, 1927." ENSG00000138675 FGF5 24989505 190330 Trichomegaly "Gray, H. Trichomegaly or movie lashes. Stanford Med. Bull. 2: 157-158, 1944." ENSG00000163104 SMARCAD1 24664640 129200 Basan syndrome "Ludy, J. B. Congenital absence of fingerprints. Arch. Derm. Syph. 49: 373 only, 1944." ENSG00000182899 RPL35A 18535205 612528 Diamond-Blackfan anemia 5 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000122406 RPL5 19061985 612561 Diamond-Blackfan anemia 6 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000142676 RPL11 19061985 612562 Diamond-Blackfan anemia 7 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000171863 RPS7 19061985 612563 Diamond-Blackfan anemia 8 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000118972 FGF23 15590700 211900 "Tumoral calcinosis, hyperphosphatemic, familial" "Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935." ENSG00000118137 APOA1 12050338 105200 "Amyloidosis, 3 or more types" "Ostertag, B. Demonstration einer eigenartigen familiaeren Paramyloidose. Zbl. Path. 56: 253-254, 1932." ENSG00000165474 GJB2 10369869 124500 Vohwinkel syndrome "Vohwinkel, K. H. Keratoma hereditarium mutilans. Arch. Derm. Syph. 158: 354-364, 1929." ENSG00000112837 TBX18 26235987 143400 Congenital anomalies of kidney and urinary tract 2 19993137 ENSG00000174804 FZD4 15733276 133780 Retinopathy of prematurity 18169329 ENSG00000167371 PRRT2 22101681 128200 Episodic kinesigenic dyskinesia 1 "Mount, L. A., Reback, S. Familial paroxysmal choreoathetosis: preliminary report on a hitherto undescribed clinical syndrome. Arch. Neurol. Psychiat. 44: 841-847, 1940." ENSG00000204264 PSMB8 21129723 256040 "Autoinflammation, lipodystrophy, and dermatosis syndrome" "Nakajo, A. Secondary hypertrophic osteoperiostosis with pernio (Japanese). J. Derm. Urol. 45: 77-86, 1939." ENSG00000116014 KISS1R 18272894 176400 "Precocious puberty, central, 1" "Rush, H. P., Bilderback, J. B., Slocum, D., Rogers, A. Pubertas praecox (macrogenitosomia). Endocrinology 21: 404-411, 1937." ENSG00000185344 ATP6V0A2 18157129 219200 "Cutis laxa, autosomal recessive, type IIA" "Debre, R., Marie, J., Seringe, P. 'Cutis laxa' avec dystrophies osseuses. Bull. Mem. Soc. Med. Hop. Paris 53: 1038-1039, 1937." ENSG00000169432 SCN9A 17145499 167400 Paroxysmal extreme pain disorder "Thaysen, T. E. H. Proctalgia fugax: a little known form of pain in the rectum. Lancet 226: 243-246, 1935. Note: Originally Volume 2." ENSG00000164190 NIPBL 15146185 122470 Cornelia de Lange syndrome 1 "de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933." ENSG00000166147 FBN1 12525539 608328 "Weill-Marchesani syndrome 2, dominant" "G. Weill: Ectopie des cristallins et malformations générales. Annales d’oculistique, Paris, 1932, 169: 21-44. " ENSG00000122691 TWIST1 11977182 101400 Saethre-Chotzen syndrome with eyelid anomalies "Saethre, M. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie). Dtsch. Z. Nervenheilk. 119: 533-555, 1931." ENSG00000186868 MAPT 11601501 172700 Pick disease "Grunthal, E. Ueber ein Bruderpaar mit pickscher Krankheit. Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930." ENSG00000105983 LMBR1 11090342 200500 Acheiropody "Bohomoletz, M. Further light on the handless and footless family of Brazil. Eugen. News 15: 143-145, 1930." ENSG00000142173 COL6A2 11381124 254090 Ullrich congenital muscular dystrophy 1 "Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930." ENSG00000221829 FANCG 9806548 614082 "Fanconi anemia, complementation group G" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000166340 TPP1 9295267 204500 "Ceroid lipofuscinosis, neuronal, 2" "Hassin, G. B. Amaurotic family idiocy: late infantile type (Bielschowsky) with the clinical picture of decerebrate rigidity. Arch. Neurol. Psychiat. 16: 708-727, 1926." ENSG00000121742 GJB6 11017065 129500 "Ectodermal dysplasia 2, Clouston type" 20317409 ENSG00000186442 KRT3 22174841 122100 Meesmann corneal dystrophy "Meesmann, A., Wilke, F. Klinische und anatomische Untersuchungen ueber eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut. Klin. Monatsbl. Augenheilkd. 103: 361-391, 1939." ENSG00000124313 IQSEC2 20473311 309530 "Mental retardation, X-linked 1/78" "Penrose, L. S. A Clinical and Genetic Study of 1,280 Cases of Mental Defect. London: His Majesty's Stationery Office (pub.) 1938." ENSG00000134569 LRP4 20381006 212780 Cenani-Lenz syndactyly syndrome "Liebenam, L. Ueber gleichzeitiges Vorkommen von Gliedmassendefekten und osteosklerotischer Systemerkrunkung. Ztschr. Mensch. Vererbungs-und Konstitutionslehre 21: 697-703, 1938." ENSG00000124614 RPS10 20116044 613308 Diamond-Blackfan anemia 9 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000197728 RPS26 20116044 613309 Diamond-Blackfan anemia 10 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000133116 KL 17710231 211900 "Tumoral calcinosis, hyperphosphatemic" "Teutschlaender, O. Ueber progressive Lipogranulomatose der Muskulatur. Klin. Wschr. 14: 451-453, 1935." ENSG00000142303 ADAMTS10 15368195 277600 "Weill-Marchesani syndrome 1, recessive" "Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932." ENSG00000163359 COL6A3 11992252 254090 Ullrich congenital muscular dystrophy 1 "Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930." ENSG00000109099 PMP22 9543325 180800 Roussy-Levy syndrome "Roussy, G., Levy, G. Sept cas d'une maladie familiale particulaiere. Rev. Neurol. 45: 427-450, 1926." ENSG00000165731 RET 7906866 162300 Multiple endocrine neoplasia IIB "Wagenmann, A. Multiple neurome des auges und der Zunge. Ber. Dtsch. Ophthal. 43: 282-285, 1922." ENSG00000110799 VWF 2385594 613554 "von Willebrand disease, types 2A, 2B, 2M, and 2N" "E. A. von Willebrand: Till kännedom om den aplastiska anämien. Finska Läkaresällskapets Handlingar, 1918, 60: 859-922." ENSG00000164120 HPGD 18500342 259100 Cranioosteoarthropathy "Touraine, A., Solente, G., Gole, L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med. 43: 1820-1824, 1935." ENSG00000164120 HPGD 18500342 259100 "Hypertrophic osteoarthropathy, primary, autosomal recessive 1" "Touraine, A., Solente, G., Gole, L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med. 43: 1820-1824, 1935." ENSG00000157765 SLC34A2 16960801 265100 Pulmonary alveolar microlithiasis "Puhr, L. Mikrolithiasis alveolaris pulmonum. Virchow Arch. Path. Anat. 290: 156-160, 1933" ENSG00000072501 SMC1A 16604071 300590 Cornelia de Lange syndrome 2 "de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933." ENSG00000128714 HOXD13 16222680 186300 "Syndactyly, type V" "Kemp, T., Ravn, J. Ueber erbliche Hand-und Fussdeformitaeten in einem 140-koepfigen Geschlecht, nebst einigen Bemerkungen ueber Poly-und Syndaktylie beim Menschen. Acta Psychiat. Neurol. Scand. 7: 275-296, 1932." ENSG00000136244 IL6 16150725 266600 Crohn disease-associated growth failure "B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329." ENSG00000140521 POLG 15122711 203700 Mitochondrial DNA depletion syndrome 4A (Alpers type) "Alpers, B. J. Diffuse progressive degeneration of gray matter of cerebrum. Arch. Neurol. Psychiat. 25: 469-505, 1931." ENSG00000142156 COL6A1 12840783 254090 Ullrich congenital muscular dystrophy 1 "Ullrich, O. Kongenitale atonisch-sklerotische Muskeldystrophie, ein weiterer Typus der heredodegeneration Erkrankungen des neuromuskularen Systems. Z. Ges. Neurol. Psychiat. 126: 171-201, 1930." ENSG00000112039 FANCE 11001585 600901 "Fanconi anemia, complementation group E" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000183161 FANCF 10615118 603467 "Fanconi anemia, complementation group F" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000158887 MPZ 10553995 180800 Roussy-Levy syndrome "Roussy, G., Levy, G. Sept cas d'une maladie familiale particulaiere. Rev. Neurol. 45: 427-450, 1926." ENSG00000175325 PROP1 9462743 262600 "Pituitary hormone deficiency, combined, 2" "Hanhart, E. Ueber heredodegenerativen Zwergwuchs mit dystrophia adiposogenitalis. An hand von Untersuchungen bei drei Sippen von proportionierten Zwergen. Arch. Klaus Stift. Vererbungsforsch. 1: 181-257, 1925." ENSG00000187266 EPOR 8093406 133100 "Erythrocytosis, familial, 1" "Engelking, E. Ueber familiaere Polyzythaemie und die dabei beobachteten Augenveraenderungen. Klin. Monatsbl. Augenheilkd. 64: 645-664, 1920." ENSG00000179774 ATOH7 21441919 221900 "Persistent hyperplastic primary vitreous, autosomal recessive" 18169555 ENSG00000169031 COL4A3 11044206 104200 "Alport syndrome, autosomal dominant" 20773074 ENSG00000154864 PIEZO2 23487782 108145 "Arthrogryposis, distal, type 5" "Altman, H. S., Davidson, L. T. Amyoplasia congenita (arthrogryposis multiplex congenita). J. Pediat. 15: 551-557, 1939." ENSG00000169567 HINT1 22961002 137200 "Neuromyotonia and axonal neuropathy, autosomal recessive" "Grund, G. Ueber genetische Beziehungen zwischen Myotonie, Muskelkraempfen und Myokymie. (Zugleich Beitrag zur Pathologie der neuralen Muskelatrophie). Dtsch. Z. Nervenheilk. 146: 3-14, 1938." ENSG00000163017 ACTG2 22960657 155310 Visceral myopathy "Weiss, W. Zur Aetiologie des Megaduodenums. Dtsch. Z. Chir. 251: 317-330, 1938." ENSG00000161970 RPL26 22431104 614900 Diamond-Blackfan anemia 11 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000100815 TRIP11 20089971 200600 "Achondrogenesis, type IA " "Parenti, G. C. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 28: 447-462, 1936." ENSG00000108055 SMC3 17273969 610759 Cornelia de Lange syndrome 3 "de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933." ENSG00000109063 MYH3 16642020 193700 "Arthrogryposis, distal, type 2A" "Lundblom, A. On congenital ulnar deviation of the fingers of familial occurrence ('deviation des doigts en coup de vent'). Acta Orthop. Scand. 3: 393-404, 1932." ENSG00000120725 SIL1 16282978 248800 Marinesco-Sjogren syndrome "Marinesco, G., Draganesco, S., Vasiliu, D. Nouvelle maladie familiale caracterisee par une cataracte congenitale et un arret du development somato-neuro-psychique. Encephale 26: 97-109, 1931." ENSG00000080815 PSEN1 15122701 172700 Pick disease "Grunthal, E. Ueber ein Bruderpaar mit pickscher Krankheit. Ztschr. ges. Neurol. Psychiat. 129: 350-375, 1930." ENSG00000143815 LBR 12118250 169400 Pelger-Huet anomaly ENSG00000144554 FANCD2 11239453 227646 "Fanconi anemia, complementation group D2" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000269335 IKBKG 10839543 308300 Incontinentia pigmenti "Bloch, B. Eigentumliche bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Schweiz. Med. Wschr. 7: 404 only, 1926." ENSG00000108255 CRYBA1 9788845 600881 "Cataract 10, multiple types" "Brown, A. L. Hereditary cataract. Am. J. Ophthal. 7: 36-38, 1924." ENSG00000077498 TYR 2511845 203100 "Albinism, oculocutaneous, type IA" "Haldane, J. B. S., Sprunt, A. D., Haldane, N. M. Reduplication in mice. J. Genet. 5: 133-135, 1915" ENSG00000010404 IDS 1901826 309900 Mucopolysaccharidosis II 19979883 ENSG00000174748 RPL15 23812780 615550 Diamond-Blackfan anemia 12 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000111199 TRPV4 18587396 113500 Brachyolmia type 3 "Brown, D. O., MacDonald, C. Three cases of familial osseous dystrophy. Aust. New Zeal. J. Surg. 3: 78-88, 1933." ENSG00000175084 DES 17439987 181400 "Scapuloperoneal syndrome, neurogenic, Kaeser type" "Palmer, H. D. Familial scapuloperoneal amyotrophy. Arch. Neurol. Psychiat. 28: 473-477, 1932." ENSG00000084073 ZMPSTE24 15317753 275210 "Restrictive dermopathy, lethal" "Antoine, T. Ein Fall von allgemeiner, angeborener Haut-atrophie. Monatsschr. Geburtsh. Gynaekol. 81: 276-283, 1929." ENSG00000160789 LMNA 15317753 275210 "Restrictive dermopathy, lethal" "Antoine, T. Ein Fall von allgemeiner, angeborener Haut-atrophie. Monatsschr. Geburtsh. Gynaekol. 81: 276-283, 1929." ENSG00000140675 SLC5A2 12436245 233100 Renal glucosuria "Hjarne, V. Study of orthoglycaemic glycosuria with particular reference to its heritability. Acta Med. Scand. 67: 422-571, 1927." ENSG00000139618 BRCA2 12065746 605724 "Fanconi anemia, complementation group D1" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000109861 CTSC 10581027 245000 Papillon-Lefevre syndrome "Papillon, M. M., Lefevre, P. Deux cas de keratodermie palmaire et plantaire symetrique familiale (maladie de Meleda) chez le frere et la soeur: coexistence dans les deux cas d'alterations dentaires graves. Bull. Soc. Fr. Dermatol. Syphiligr. 31: 82-87, 1924." ENSG00000136827 TOR1A 9288096 128100 "Dystonia-1, torsion" "Wechsler, I. S., Brock, S. Dystonia musculorum deformans with especial reference to a myostatic form and the occurrence of decerebrate rigidity phenomena. A study of six cases. Arch. Neurol. Psychiat. 8: 538-552, 1922." ENSG00000106571 GLI3 9042919 174200 "Polydactyly, postaxial, types A1 and B" "Sverdrup, A. Postaxial polydactylism in six generations of a Norwegian family. J. Genet. 12: 217-240, 1922." ENSG00000213741 RPS29 24829207 615909 Diamond-Blackfan anemia 13 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000169884 WNT10B 18515319 225300 Split-hand/foot malformation 6 "Klein, I. J. Hereditary ectrodactylism in siblings. Am. J. Dis. Child. 43: 136-142, 1932." ENSG00000085978 ATG16L1 18852889 611081 Inflammatory bowel disease (Crohn disease) 10 "B. B. Crohn, L. Ginzburg, G. D. Oppenheimer: Regional ileitis; a pathologic and clinical entity. Journal of the American Medical Association; Chicago, 1932, 99: 1323-1329." ENSG00000174106 LEMD3 15489854 166700 Buschke-Ollendorff syndrome "Buschke, A., Ollendorff, H. Ein Fall von Dermatofibrosis lenticularis disseminata. Derm. Wochenschr. 86: 257-262, 1928." ENSG00000174106 LEMD3 15489854 166700 Osteopoikilosis "Buschke, A., Ollendorff, H. Ein Fall von Dermatofibrosis lenticularis disseminata. Derm. Wochenschr. 86: 257-262, 1928." ENSG00000115392 FANCL 12973351 614083 "Fanconi anemia, complementation group L" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000143369 ECM1 11929856 247100 Urbach-Wiethe disease "Urbach, E., Wiethe, C. Lipoidosis cutis et mucosae. Virchows Arch. Path. Anat. 273: 285-319, 1929." ENSG00000125965 GDF5 9288091 113100 "Brachydactyly, type C" "Pol, D. 'Brachydactylie,' 'Klinodaktylie,' Hyperphalangie und ihre Grundlagen. Virchows Arch. Path. Anat. 229: 388-530, 1921." ENSG00000127415 IDUA 7550242 607014 Mucopolysaccharidosis Ih "G. Hurler: Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Zeitschrift für Kinderheilkunde, Berlin, 1919, 24: 220-234." ENSG00000131469 RPL27 25424902 617408 Diamond-Blackfan anemia "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000177954 RPS27 25424902 617409 Diamond-Blackfan anemia 17 "Diamond, L. K., Blackfan, K. D. Hypoplastic anemia. Am. J. Dis. Child. 56: 464-467, 1938." ENSG00000135925 WNT10A 19559398 150400 "Tooth agenesis, selective, 4" "Schultz, A. H. The hereditary tendency to eliminate the upper lateral incisors. Hum. Biol. 4: 34-40, 1932." ENSG00000140470 ADAMTS17 19836009 613195 Weill-Marchesani-like syndrome "Weill, G. Ectopie du cristillins et malformations generales. Ann. Ocul. (Paris) 169: 21-44, 1932." ENSG00000111670 GNPTAB 15633164 252600 Mucolipidosis III alpha/beta "Schinz, H. R., Furtwaengler, A. Zur Kenntnis einer hereditaeren Osteoarthropathie mit rezessivem Erbgang. Dtsch. Z. Chir. 207: 398-416, 1928." ENSG00000181544 FANCB 15502827 300514 "Fanconi anemia, complementation group B" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000118231 CRYGD 9927684 115700 "Cataract 4, multiple types" "Vogt, A. Weitere Ergebnisse der Spaltlampenmikroskopie des vorderen Bulbusabschnittes. III. (Abschnitt-Fortsetzung). Angeborene und fruh aufgetretene Linsenveranderungen. Graefes Arch. Clin. Exp. Ophthal. 108: 182-191, 1922." ENSG00000118046 STK11 9425897 175200 Peutz-Jeghers syndrome "Peutz, J. L. A. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. (Dutch). Nederl. Maandschr. Geneesk. 10: 134-146, 1921." ENSG00000171862 PTEN 9140396 158350 Lhermitte-Duclos syndrome "Lhermitte, J., Duclos, P. Sur un ganglioneurome diffus du cortex du cervelet. Bull. Assoc. Franc. Cancer 9: 99-107, 1920." ENSG00000166311 SMPD1 2023926 607616 "Niemann-Pick disease, type B" "A. Niemann: Ein unbekanntes Krankheitsbild. Jahrbuch für Kinderheilkunde, Berlin, N F, 1914. Volume 79: 1-10. " ENSG00000116132 PRRX1 21294718 202650 Agnathia-otocephaly complex 17246734 ENSG00000122691 TWIST1 17343269 123100 Craniosynostosis 1 "Duguid, H. An instance of familial scaphocephaly. J. Ment. Sci. 75: 704-706, 1929." ENSG00000106571 GLI3 15811011 174700 "Polydactyly, preaxial, type IV" "Thomsen, O. Einige Eigenthuemlichkeiten der erblichen Poly- und Syndaktylie beim Menschen. Acta Med. Scand. 65: 609-644, 1927." ENSG00000136492 BRIP1 16116423 609054 "Fanconi anemia, complementation group J" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000100987 VSX1 11978762 148300 Keratoconus 1 "Van der Hoeve, J. Vererbbarkeit des Keratokonus. Z. Augenheilkd. 52: 321-336, 1924." ENSG00000125965 GDF5 12121354 228900 Du Pan syndrome "Du Pan, C. M. Absence congenitale du perone sans deformation du tibia: curieuses deformations congenitales des mains. Rev. Orthop. 11: 227-234, 1924." ENSG00000105329 TGFB1 10973241 131300 Camurati-Engelmann disease "Camurati, M. Di uno raro caso di osteite simmetrica ereditaria degli arti inferiori. Chir. Organi Mov. 6: 662-665, 1922." ENSG00000120149 MSX2 10742103 168500 Parietal foramina 1 "Goldsmith, W. M. 'The Catlin mark': the inheritance of an unusual opening in the parietal bones. J. Hered. 13: 69-71, 1922." ENSG00000143632 ACTA1 10508519 161800 "Myopathy, actin, congenital, with cores" "Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921" ENSG00000143632 ACTA1 10508519 161800 "Myopathy, actin, congenital, with excess of thin myofilaments" "Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921" ENSG00000143632 ACTA1 10508519 161800 "Nemaline myopathy 3, autosomal dominant or recessive" "Gibson, A. Muscular infantilism. Arch. Intern. Med. 27: 338-350, 1921" ENSG00000054598 FOXC1 9792859 602482 "Axenfeld-Rieger syndrome, type 3" "T. Axenfeld: Embryotoxon cornea posterius. Berichte der Deutschen ophthalmologischen Gesellschaft, 1920, 42: 301. " ENSG00000092295 TGM1 7824952 242300 "Ichthyosis, congenital, autosomal recessive 1" "MacKee, G. M., Rosen, I. Erythrodermie congenitale ichthyosiforme: report of a case with a discussion of the clinical and histological features and a review of the literature. J. Cutan. Dis. 35: 235-251 and 511-540, 1917." ENSG00000054983 GALC 8297359 245200 Krabbe disease "Krabbe, K. A new familial infantile form of diffuse brain-sclerosis. Brain 39: 74-114, 1916." ENSG00000147099 HDAC8 22889856 300882 Cornelia de Lange syndrome 5 "de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933." ENSG00000164754 RAD21 22633399 614701 Cornelia de Lange syndrome 4 "de Lange, C. Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch. Med. Enfants 36: 713-719, 1933." ENSG00000160710 ADAR 12916015 127400 Dyschromatosis symmetrica hereditaria "Komaya, G. Symmetrische Pigmentanomalie der Extremitaeten. Arch. Derm. Syph. 147: 389-393, 1924." ENSG00000103249 CLCN7 11741829 166600 "Osteopetrosis, autosomal dominant 2" "Ghormley, R. K. A case of congenital osteosclerosis. Bull. Johns Hopkins Hosp. 33: 444-446, 1922." ENSG00000125779 PANK2 11479594 234200 Neurodegeneration with brain iron accumulation 1 "Hallervorden, J., Spatz, H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra.: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z. Ges. Neurol. Psychiat. 79: 254-302, 1922." ENSG00000077943 ITGA8 24439109 191830 Renal hypodysplasia/aplasia 1 "Madisson, H. Ueber das Fehlen beider Nieren (Aplasia renum bilateralis). Centrabl. Path. Anat. 60: 1-8, 1934." ENSG00000145979 TBC1D7 23687350 248000 "Macrocephaly/megalencephaly syndrome, autosomal recessive" "Weil, A. Megalencephaly with diffuse glioblastomatosis of the brain stem and the cerebellum. Arch. Neurol. Psychiat. 30: 795-809, 1933." ENSG00000157766 ACAN 20137779 165800 "Osteochondritis dissecans, short stature, and early-onset osteoarthritis" "Harbin, M., Zollinger, R. M. Osteochondritis of growth centers. Surg. Gynec. Obstet. 51: 145-161, 1930." ENSG00000140525 FANCI 17452773 609053 "Fanconi anemia, complementation group I" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000083093 PALB2 17200672 610832 "Fanconi anemia, complementation group N" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000083093 PALB2 17200671 610832 "Fanconi anemia, complementation group N" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000070193 FGF10 15654336 180920 Aplasia of lacrimal and salivary glands "Blackmar, F. B. Congenital atresia of all lacrimal puncta with absence of salivary glands. Am. J. Ophthal. 8: 139-140, 1925." ENSG00000113262 GRM6 15781871 257270 "Night blindness, congenital stationary (complete), 1B, autosomal recessive" "Gassler, V. J. Ueber eine bis jetzt nicht bekannte recessive Verknuepfung von hochgradiger Myopie mit angeborener Hemeralopie. Arch. Klaus Stift. Vererbungsforsch. 1: 259-272, 1925." ENSG00000128714 HOXD13 12649808 113200 "Brachydactyly, type D" "Breitenbecher, J. K. Hereditary shortness of thumbs. J. Hered. 14: 15-21, 1923." ENSG00000125863 MKKS 10973238 605231 Bardet-Biedl syndrome 6 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000101850 GPR143 7647783 300500 "Ocular albinism, type I, Nettleship-Falls type" "Engelhard, C. F. Eine Familie mit hereditaerem Nystagmus. Z. Ges. Neurol. Psychiat. 28: 319-338, 1915." ENSG00000158813 EDA 8434608 305100 "Ectodermal dysplasia 1, hypohidrotic, X-linked" "J. Christ: Über die kongenitalen ectodermalen Defekte und Ihre Beziehungen zu einander; vikariirendes Pigment für Haarbildung. Archiv für Dermatologie und Syphilis, Berlin, 1913, 116: 685-703. " ENSG00000123560 PLP1 2773936 312080 Pelizaeus-Merzbacher disease "Merzbacher, L. Gesetzmaessigkeiten in der Vererbung und Verbreitung verschiedener hereditaer-familiaerer Erkrankungen. Arch. Rass. Ges. Biol. 6: 172-198, 1909." ENSG00000121905 HPCA 25799108 224500 "Dystonia 2, torsion, autosomal recessive" "Santangelo, G. Contributo clinico alla conoscenza delle forme familiari della dysbasia lordotica progressiva (spasmo di torsione). G. Psychiat. Neuropat. 62: 52-77, 1934." ENSG00000169432 SCN9A 23596073 243000 "HSAN2D, autosomal recessive" "Dearborn, G. A case of congenital general pure analgesia. J. Nerv. Ment. Dis. 75: 612-615, 1932." ENSG00000112562 SMOC2 22152679 125400 "Dentin dysplasia, type I, with microdontia and misshapen teeth" "Herbst, E., Apffelstaedt, M. (eds.). Malformations of the Jaws and Teeth. New York: Oxford University Press , 1930. P. 286." ENSG00000125124 BBS2 11285252 615981 Bardet-Biedl syndrome 2 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000140463 BBS4 11381270 615982 Bardet-Biedl syndrome 4 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000180210 F2 9869612 188050 Thrombophilia due to thrombin defect "Fisher, R. A. Correlation between relatives on the supposition of mendelian inheritance. Trans. Roy. Soc. Edinburgh 52: 399-433, 1918." ENSG00000137474 MYO7A 7870171 276900 "Usher syndrome, type 1B" "Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914." ENSG00000123191 ATP7B 8298639 277900 Wilson disease "Wilson, S. A. K. Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34: 295-507, 1912." ENSG00000165688 PMPCA 25808372 213200 "Spinocerebellar ataxia, autosomal recessive 2" "Scherer, H. J. Beitraege zur pathologischen Anatomie des Kleinhirns: genuine Kleinhirnatrophien. Z. Neurol. Psychiat. 145: 335-405, 1933." ENSG00000187741 FANCA 19423727 227650 "Fanconi anemia, complementation group A" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000186847 KRT14 16960809 161000 Naegeli-Franceschetti-Jadassohn syndrome "Naegeli, B. Familiarer Chromatophorennavus. Schweiz. Med. Wschr. 8: 48 only, 1927." ENSG00000213024 NUP62 16786527 271930 "Striatonigral degeneration, infantile" "Paterson, D., Carmichael, E. A. Form of familial cerebral degeneration chiefly affecting the lenticular nucleus. Brain 47: 207-231, 1924." ENSG00000165694 FRMD7 17013395 310700 "Nystagmus 1, congenital, X-linked" "Hemmes, G. C. Over hereditairen Nystagmus. Thesis: Utrecht (pub.) 1924." ENSG00000165694 FRMD7 17013395 310700 "Nystagmus, infantile periodic alternating, X-linked" "Hemmes, G. C. Over hereditairen Nystagmus. Thesis: Utrecht (pub.) 1924." ENSG00000068078 FGFR3 8078586 100800 Achondroplasia "Weinberg, W. Zur Vererbung des Zwergwuchses. Arch. Rass. Ges. Biol. 9: 710-717, 1912." ENSG00000068078 FGFR3 7913883 100800 Achondroplasia "Weinberg, W. Zur Vererbung des Zwergwuchses. Arch. Rass. Ges. Biol. 9: 710-717, 1912." ENSG00000066468 FGFR2 7987400 123500 Crouzon syndrome "Crouzon, O. Dysostose cranio-faciale hereditaire. Bull. Mem. Soc. Med. Hop. Paris 33: 545-555, 1912." ENSG00000259384 GH1 8288694 173100 "Growth hormone deficiency, isolated, type II" "Rischbieth, H., Barrington, A. Dwarfism. In: Pearson, K. (ed.): Treasury of Human Inheritance. Vol. 1. Part 7. Sec. 15A. London: Dulau and Co. (pub.) 1912. P. 355." ENSG00000169083 AR 7937057 300068 Androgen insensitivity "Dieffenbach, H. Familiaerer Hermaphroditismus. Inaug. Dissert.: Stuttgart (pub.) 1912." ENSG00000165733 BMS1 23785305 107600 "Aplasia cutis congenita, nonsyndromic" 29639888 ENSG00000139190 VAMP1 22958904 108600 "Spastic ataxia 1, autosomal dominant" "Ferguson, F. R., Critchley, M. A clinical study of an heredo-familial disease resembling disseminated sclerosis. Brain 52: 203-225, 1929." ENSG00000108384 RAD51C 20400963 613390 "Fanconi anemia, complementation group O" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000120942 UBIAD1 17668063 121800 "Corneal dystrophy, Schnyder type" "Van Went, J. M., Wibaut, F. Een Zeldzame erfelijke hoornvliesaandoening. Ned. Tijdschr. Geneeskd. 68: 2996-2997, 1924." ENSG00000152661 GJA1 12457340 164200 Oculodentodigital dysplasia "Lohmann, W. Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch. Augenheilk. 86: 136-141, 1920." ENSG00000138686 BBS7 12567324 615984 Bardet-Biedl syndrome 7 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000165533 TTC8 14520415 615985 Bardet-Biedl syndrome 8 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000100836 PABPN1 9462747 164300 Oculopharyngeal muscular dystrophy "Taylor, E. W. Progressive vagus-glossopharyngeal paralysis with ptosis: contribution to group of family diseases. J. Nerv. Ment. Dis. 42: 129-139, 1915." ENSG00000183691 NOG 10080184 185800 "Symphalangism, proximal, 1A" 17245852 ENSG00000183691 NOG 10080184 186500 Multiple synostoses syndrome 1 17245852 ENSG00000188827 SLX4 21240277 613951 "Fanconi anemia, complementation group P" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000168453 HR 19122663 146550 Hypotrichosis 4 "Unna, M. Ueber Hypotrichosis congenita hereditaria. Derm. Wschr. 81: 1167-1178, 1925." ENSG00000144452 ABCA12 15756637 242500 "Ichthyosis, congenital, autosomal recessive 4B (harlequin)" "Thomson, M. S., Wakeley, C. P. G. The harlequin foetus. J. Obstet. Gynaec. Brit. Commun. 28: 190-203, 1921." ENSG00000171320 ESCO2 16380922 269000 SC phocomelia syndrome "O'Brien, H. R., Mustard, H. S. An adult living case of total phocomelia. JAMA 77: 1964-1967, 1921." ENSG00000113966 ARL6 15314642 600151 Bardet-Biedl syndrome 3 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000113966 ARL6 15258860 600151 Bardet-Biedl syndrome 3 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000163093 BBS5 15137946 615983 Bardet-Biedl syndrome 5 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000042781 USH2A 9624053 276901 "Usher syndrome, type 2A" "Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914." ENSG00000198691 ABCA4 8275096 248200 Fundus flavimaculatus "Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909." ENSG00000142192 APP 1908231 104300 "Alzheimer disease 1, familial" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000142192 APP 1678058 104300 "Alzheimer disease 1, familial" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000142192 APP 1671712 104300 "Alzheimer disease 1, familial" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000196468 FGF16 23709756 309630 Metacarpal 4-5 fusion "Orel, H. Kleine Beitrage zur Vererbungswissenschaft. Synostosis metacarpi quarti et quinti. Z. Anat. 14: 244-252, 1928." ENSG00000101076 HNF4A 22802087 616026 "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000167723 TRPV3 22405088 614594 Olmsted syndrome "Olmsted, H. C. Keratodermia palmaris et plantaris congenitalis: report of a case showing associated lesions of unusual location. Am. J. Dis. Child. 33: 757-764, 1927." ENSG00000196584 XRCC2 22232082 617247 "?Fanconi anemia, complementation group U" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000122507 BBS9 16380913 615986 Bardet-Biedl syndrome 9 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000184292 TACSTD2 10192395 204870 "Corneal dystrophy, gelatinous drop-like" "Nakaizumi, K. A rare case of corneal dystrophy. Acta Soc. Ophthal. Jpn. 18: 949-950, 1914" ENSG00000133256 PDE6B 8075643 163500 "Night blindness, congenital stationary, autosomal dominant 2" "Rambusch, S. H. A. Den medfodte Natteblindheds Arvelighedsforhold: oversigt over det Kgl. Danske Videnskabernes Selskabs Forhandlinger 313: 337-347, 1909." ENSG00000175595 ERCC4 23623386 615272 "Fanconi anemia, complementation group Q" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000128973 CLN6 21549341 204300 "Ceroid lipofuscinosis, neuronal, Kufs type, adult onset" "Kufs, H. Ueber eine Spatform der amaurotischen Idiotie und ihre heredofamiliaren Grundlagen. Z. Ges. Neurol. Psychiat. 95: 169-188, 1925." ENSG00000179941 BBS10 16582908 615987 Bardet-Biedl syndrome 10 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000119401 TRIM32 16606853 615988 Bardet-Biedl syndrome 11 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000171320 ESCO2 15821733 268300 Roberts syndrome "Roberts, J. B. A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities. Ann. Surg. 70: 252-254, 1919." ENSG00000105983 LMBR1 12837695 174500 Triphalangeal thumb-polysyndactyly syndrome "Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917." ENSG00000006611 USH1C 10973247 276904 "Usher syndrome, type 1C" "Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914." ENSG00000119655 NPC2 11125141 607625 "Niemann-pick disease, type C2" "A. Niemann: Ein unbekanntes Krankheitsbild. Jahrbuch für Kinderheilkunde, Berlin, N F, 1914. Volume 79: 1-10. " ENSG00000130203 APOE 8346443 104310 Alzheimer disease-2 "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000141837 CACNA1A 8898206 141500 "Migraine, familial hemiplegic, 1" 20765161 ENSG00000143473 KCNH1 25915598 135500 Zimmermann-Laband syndrome 1 "Zimmermann, K. W. Ueber Anomalien des Ektoderms. Vjschr. Zahnheilk. 44: 419-434, 1928." ENSG00000065618 COL17A1 25676728 122400 Epithelial recurrent erosion dystrophy "Franceschetti, A. Hereditaere rezidivierende Erosion der Hornhaut. Z. Augenheilk. 66: 309-316, 1928." ENSG00000181004 BBS12 17160889 615989 Bardet-Biedl syndrome 12 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000163646 CLRN1 11524702 276902 "Usher syndrome, type 3A" "Usher, C. H. On the inheritance of retinitis pigmentosa, with notes of cases. Roy. Lond. Ophthal. Hosp. Rep. 19: 130-236, 1914." ENSG00000107736 CDH23 11138009 601067 "Usher syndrome, type 1D" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000150275 PCDH15 11398101 602083 "Usher syndrome, type 1F" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000189433 GJB4 9843209 133200 Erythrokeratodermia variabilis with erythema gyratum repens "Darier, J. Erythro-keratodermie verruqueuse en nappes, symetrique et progressive. Bull. Soc. Franc. Derm. Syph. 22: 252-264, 1911." ENSG00000112425 EPM2A 9771710 254780 "Epilepsy, progressive myoclonic 2A (Lafora)" "Lafora, G. R., Glueck, B. Beitrag zur histpathologie der myoklonischen Epilepsie. Z. Ges. Neurol. Psychiat. 6: 1-14, 1911." ENSG00000163914 RHO 7846071 610445 "Night blindness, congenital stationary, autosomal dominant 1" "Bordley, J. A family of hemeralopes. Bull. Johns Hopkins Hosp. 19: 278-281, 1908." ENSG00000051180 RAD51 26681308 617244 "Fanconi anemia, complementation group R" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000077152 UBE2T 26046368 616435 "Fanconi anemia, complementation group T" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000011143 MKS1 18327255 615990 Bardet-Biedl syndrome 13 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000198707 CEP290 18327255 615991 Bardet-Biedl syndrome 14 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000130826 DKC1 9590285 305000 "Dyskeratosis congenita, X-linked" "F. Zinsser: Iconographia dermatologica, syphilidologica et urologica, Kyoto, 1910, 5: 219-223. " ENSG00000198691 ABCA4 9054934 248200 "Retinal dystrophy, early-onset severe" "Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909." ENSG00000198691 ABCA4 9054934 248200 Stargardt disease 1 "Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909." ENSG00000130561 SAG 7670478 258100 Oguchi disease-1 "Oguchi, C. Ueber eine Abart von Hemeralopie. Acta Soc. Ophthal. Jpn. 11: 123-134, 1907. Note: Article in Japanese." ENSG00000143801 PSEN2 7638622 606889 Alzheimer disease-4 "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000080815 PSEN1 7596406 607822 "Alzheimer disease, type 3" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000080815 PSEN1 7596406 607822 "Alzheimer disease, type 3, with spastic paraparesis and apraxia" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000080815 PSEN1 7596406 607822 "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques" "Alzheimer, A. Ueber eine eigenartige Erkrankung der Himrinde. Allg. Z. Psychiat. Med. 64: 146-148, 1907." ENSG00000007372 PAX6 8162071 604229 "Anterior segment dysgenesis 5, multiple subtypes" "Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906." ENSG00000116670 MAD2L2 27500492 617243 "Fanconi anemia, complementation group V" "G. Fanconi: Familiäre, infantile perniciosähnliche Anämie (perniziöses Blutbild und Konstitution). Jahrbuch für Kinderheilkunde und physische Erziehung, Wien,1927, 117: 257-280." ENSG00000141527 CARD14 22703878 173200 Pityriasis rubra pilaris "Zeisler, E. P. Pityriasis rubra pilaris--familial type. Arch. Derm. Syph. 7: 195-208, 1923." ENSG00000187091 PLCD1 21665001 151600 "Nail disorder, nonsyndromic congenital, 3, (leukonychia)" "Sibley, K. Leuconychia striata. Brit. J. Derm. Syph. 34: 238-239, 1922." ENSG00000204539 CDSN 20691404 270300 Peeling skin syndrome 1 "Fox, H. Skin shedding (keratolysis exfoliativa congenita): report of a case. (Abstract) Arch. Derm. Syph. 3: 202 only, 1921." ENSG00000182040 USH1G 12588794 606943 "Usher syndrome, type 1G" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000121634 GJA8 9497259 116200 "Cataract 1, multiple types" "Harman, N. B. Congenital cataract, a pedigree of five generations. Trans. Ophthal. Soc. U.K. 29: 101-108, 1909." ENSG00000198691 ABCA4 9781034 248200 Fundus flavimaculatus "Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909." ENSG00000103313 MEFV 9288094 249100 "Familial Mediterranean fever, AR" "Janeway, T. C., Mosenthal, H. O. An unusual paroxysmal syndrome, probably allied to recurrent vomiting, with a study of the nitrogen metabolism. Trans. Assoc. Am. Phys. 23: 504-518, 1908" ENSG00000066468 FGFR2 7719344 101200 Apert syndrome "Apert, M. E. De l'acrocephalosyndactylie. Bull. Mem. Soc. Med. Hop. Paris 23: 1310-1330, 1906." ENSG00000186832 KRT16 7539673 167200 Pachyonychia congenita 1 "Jadassohn, J., Lewandowsky, F. Pachyonychia congenita. In: Jacobs Ikonographia Dermatologica. Vol. 1. Berlin: Urban and Schwarzenberg (pub.) 1906. P. 29." ENSG00000134086 VHL 8493574 193300 von Hippel-Lindau syndrome "von Hippel, E. Ueber eine sehr seltene Erkrankung der Netzhaut. Albrecht von Graefes Arch. Ophthal. 59: 83-106, 1904." ENSG00000141837 CACNA1A 9915947 141500 "Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia" 20765161 ENSG00000054282 SDCCAG8 20835237 615993 Bardet-Biedl syndrome "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000143382 ADAMTSL4 20702823 225200 Ectopia lentis et pupillae "Siemens, H. W. Ueber die Aetiologie der Ectopia lentis et pupillae. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 109: 359-383, 1920." ENSG00000143951 WDPCP 20671153 615992 Bardet-Biedl syndrome 15 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000174483 BBS1 20177705 209900 Bardet-Biedl syndrome 1 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000049130 KITLG 19375057 145250 Hyperpigmentation with or without hypopigmentation "Wende, G. W., Bauckus, H. H. A hitherto undescribed generalized pigmentation of the skin appearing in infancy in brother and sister. J. Cutan. Dis. 37: 685-701, 1919." ENSG00000105983 LMBR1 17152067 174500 "Triphalangeal thumb, type I" "Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917." ENSG00000164199 ADGRV1 14740321 605472 "Usher syndrome, type 2C" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000186862 PDZD7 14740321 605472 "Usher syndrome, type IIC, GPR98/PDZD7 digenic" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000185974 GRK1 9020843 613411 Oguchi disease-2 "C. Oguchi: Über eine Abart von Hemeralopie. [Concerning a variety of night blindness] First published in the Japanese language. Acta Societatis ophthalmologicae Japonicae. Nippon Ganka Gakkai Zasshi, Tokyo, 1907, 11 (3): 123-134." ENSG00000259384 GH1 8288694 262400 "Growth hormone deficiency, isolated, type IA" "Gilford, H. Ateleiosis and progeria: continuous youth and premature old age. Brit. Med. J. 2: 914-918, 1904." ENSG00000164120 HPGD 18805827 119900 "Digital clubbing, isolated congenital" 20769632 ENSG00000101938 CHRDL1 22284829 309300 "Megalocornea 1, X-linked " "Gronholm, V. Ueber die Vererbung der Megalokornea nebst einem Beitrag zur Frage des genetischen Zusammenhanges zwischen Megalokornea und Hydrophthalmus. Klin. Monatsbl. Augenheilkd. 67: 1-15, 1921." ENSG00000105983 LMBR1 18178630 174500 "Polydactyly, preaxial type II" "Atwood, E. S., Pond, C. P. A polydactylous family. J. Hered. 8: 96 only, 1917." ENSG00000107736 CDH23 15537665 601067 "Usher syndrome, type 1D/F digenic" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000150275 PCDH15 15537665 601067 "Usher syndrome, type 1D/F digenic" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000102393 GLA 2539398 301500 Fabry disease "Fabry, J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch. Derm. Syph. 43: 187-200, 1898." ENSG00000102393 GLA 2539398 301500 "Fabry disease, cardiac variant" "Fabry, J. Ein Beitrag Zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa hemorrhagica Hebrae). Arch. Derm. Syph. 43: 187-200, 1898." ENSG00000163818 LZTFL1 22510444 615994 Bardet-Biedl syndrome 17 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000187566 NHLRC1 12958597 254780 "Epilepsy, progressive myoclonic 2B (Lafora)" "Lafora, G. R., Glueck, B. Beitrag zur histpathologie der myoklonischen Epilepsie. Z. Ges. Neurol. Psychiat. 6: 1-14, 1911." ENSG00000102878 HSF4 12089525 116800 "Cataract 5, multiple types" "Harman, N. B. Congenital cataract. In: Treasury of Human Inheritance. Vol. 1. Part 4. London: Cambridge Univ. Press 1910. Pp. 126-169." ENSG00000118402 ELOVL4 11138005 600110 Stargardt disease 3 "K. B. Stargardt: Über familiäre, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Archiv für Ophthalmologie, 1909, 71: 534-550." ENSG00000164093 PITX2 9437321 137600 Anterior segment dysgenesis 4 "Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906." ENSG00000165392 WRN 8602509 277700 Werner syndrome "C. W. O. Werner: Über Katarakt in Verbindung mit Sklerodermie. Doctoral thesis, University of Kiel. Schmidt and Klaunig, Kiel. 1904" ENSG00000188603 CLN3 7553855 204200 "Ceroid lipofuscinosis, neuronal, 3" "Batten, F. E. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Trans. Ophthal. Soc. U.K. 23: 386-390, 1903." ENSG00000090054 SPTLC1 11242114 162400 "Neuropathy, hereditary sensory and autonomic, type IA" 20764666 ENSG00000095397 WHRN 17171570 611383 "Usher syndrome, type 2D" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000163254 CRYGC 10521291 604307 "Cataract 2, multiple types" "Nettleship, E., Ogilvie, F. M. A peculiar form of hereditary congenital cataract. Trans. Ophthal. Soc. U.K. 26: 191-206, 1906" ENSG00000167995 BEST1 9662395 153700 "Macular dystrophy, vitelliform, 2" "Best, F. Ueber eine hereditaere Maculaaffektion. Z. Augenheilk. 13: 199-212, 1905." ENSG00000168477 TNXB 9288108 606408 Ehlers-Danlos syndrome due to tenascin X deficiency "E. L. Ehlers: Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen. Dermatologische Zeitschrift, Berlin, 1901, 8: 173-174." ENSG00000106991 ENG 7894484 187300 "Telangiectasia, hereditary hemorrhagic, type 1" "Osler, W. On a family form of recurring epistaxis, associated with multiple telangiectases of the skin and mucous membranes. Bull. Johns Hopkins Hosp. 7: 333-337, 1901." ENSG00000165240 ATP7A 7842019 304150 Occipital horn syndrome "E. L. Ehlers: Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen. Dermatologische Zeitschrift, Berlin, 1901, 8: 173-174." ENSG00000100360 IFT27 24488770 615996 Bardet-Biedl syndrome 19 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000143061 IGSF3 24372406 149700 Lacrimal duct defect "Schnyder, W. F. Ueber familiaeres Vorkommen resp. die Vererbung von Erkrankungen der Traenenwege. Z. Augenheilk. 44: 257-261, 1920." ENSG00000214413 BBIP1 24026985 615995 Bardet-Biedl syndrome 18 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000119681 LTBP2 20617341 251750 "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" "Fleischer, B. Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren. Arch. Augenheilkd. 80: 248 only, 1916." ENSG00000100345 MYH9 12621333 600208 Macrothrombocytopenia and progressive sensorineural deafness "May, R. Leukozyteneinschlusse. Dtsch. Arch. Klin. Med. 96: 1-6, 1909" ENSG00000113924 HGD 8782815 203500 Alkaptonuria "Garrod, A. E. The incidence of alkaptonuria: a study in chemical individuality. Lancet 160: 1616-1620, 1902. Note: Originally Volume II." ENSG00000124479 NDP 1307245 310600 Norrie disease "Clarke, E. 'Pseudo-glioma' in both eyes. Trans. Ophthal. Soc. U.K. 18: 136-138, 1898." ENSG00000197102 DYNC1H1 22459677 158600 "Spinal muscular atrophy, lower extremity-predominant 1, AD" "Timme, W. Progressive muscular dystrophy as an endocrine disease. Arch. Intern. Med. 19: 79-104, 1917." ENSG00000105983 LMBR1 19847792 188740 Hypoplastic or aplastic tibia with polydactyly "Werner, P. Ueber einen seltenen Fall von Zwergwuchs. Arch. Gynak. 104: 278-300, 1915." ENSG00000007372 PAX6 12721955 120200 "Coloboma, ocular" "Snell, S. Carcinoma of orbit originating in a Meibomian gland. Trans. Ophthal. Soc. U.K. 28: 144-147, 1908." ENSG00000186790 FOXE3 11159941 610256 "Anterior segment dysgenesis 2, multiple subtypes" "Peters, A. Ueber angeborene Defektbildung der Descemetschen Membran. Klin. Monatsbl. Augenheilkd. 44: 27-40 and 105-119, 1906." ENSG00000166147 FBN1 1852208 154700 Marfan syndrome "Marfan, M. A. B. Un cas de deformation congenitale des quatre membres plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bull. Mem. Soc. Med. Hop. Paris 13: 220-226, 1896." ENSG00000096872 IFT74 27486776 617119 Bardet-Biedl syndrome "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000156172 C8orf37 27008867 617406 Bardet-Biedl syndrome 21 "Bardet, G. Sur un syndrome d'obesite infantile avec polydactylie et retinite pigmentaire (contribution a l'etude des formes cliniques de l'obesite hypophysaire). Thesis: Paris 1920. Note: No. 479." ENSG00000164199 ADGRV1 20440071 605472 "Usher syndrome, type 2C, GPR98/PDZD7 digenic" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000156466 GDF6 18425797 118100 "Klippel-Feil syndrome 1, autosomal dominant" "Klippel, M., Feil, A. Un cas d'absence des vertebres cervicales avec cage thoracique remontant jusqu'a la base du crane (cage thoracique cervicale). Nouv. Iconogr. Salpet. 25: 223-250, 1912." ENSG00000170289 CNGB3 15712225 248200 "Macular degeneration, juvenile" "Stargardt, K. Ueber familiare, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 71: 534-549, 1909." ENSG00000068078 FGFR3 7987400 187600 "Thanatophoric dysplasia, type I" "Maygrier, C. Foetus achondroplasique: presentation de photographies, du moulage, d'une radiographie et du squelette. Bull. Soc. Obstet. Gynec. 1: 248-255, 1898." ENSG00000198513 ATL1 11685207 182600 "Spastic paraplegia 3A, autosomal dominant" "Strumpell, A. Die primaere Seitenstrangsklerose (spastische Spinalparalyse). Dtsch. Z. Nervenheilk. 27: 291-339, 1904." ENSG00000136425 CIB2 23023331 614869 "Usher syndrome, type IJ" "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000170445 HARS 22279524 614504 Usher syndrome type 3B "C. H. Usher: On the inheritance of retinitis pigmentosa, with notes of cases. Royal London Ophthalmological Hospital Report, 1914, 19: 130-236. " ENSG00000184344 GDF3 19864492 613702 "Klippel-Feil syndrome 3, autosomal dominant" "M. Klippel, A. Feil: Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu’ à la base du crâne (cage thoracique cervicale). Nouvelle iconographie de la Salpêtrière, Paris, 1912; 25: 223-250. English translation in Bick, Classics of Orthopaedics, 511-516." DISC2 10814723 181500 Schizophrenia "Diefendorf, A. R. Clinical Psychiatry, a Text-Book for Students and Physicians Abstracted and Adapted from the Sixth German Edition of Kraepelin's 'Lehrbuch der Psychiatrie'. New York: Macmillan (pub.) 1902." ENSG00000183873 SCN5A 10471492 113900 "Heart block, nonprogressive" "Morquio, L. Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite. Arch. Med. Enfants 4: 467-475, 1901." ENSG00000183873 SCN5A 10471492 113900 "Heart block, progressive, type IA" "Morquio, L. Sur une maladie infantile et familiale caracterisee par des modifications permanentes du pouls, des attaques syncopales et epileptiformes et la mort subite. Arch. Med. Enfants 4: 467-475, 1901." ENSG00000128714 HOXD13 8614804 186000 Synpolydactyly 1 "Anderson, W. A case of 'angeio-keratoma.'. Brit. J. Derm. 10: 113-117, 1898." ENSG00000112210 RAB23 17503333 201000 Carpenter syndrome 19974019 ENSG00000142627 EPHA2 19005574 116600 "Cataract 6, multiple types" "Nettleship, E. Seven new pedigrees of hereditary cataract. Trans. Ophthal. Soc. U.K. 29: 188-211, 1909" ENSG00000007062 PROM1 18654668 603786 Stargardt disease 4 "K. B. Stargardt: Über familiäre, progressive Degeneration in der Makulagegend des Auges. Albrecht von Graefes Archiv für Ophthalmologie, 1909, 71: 534-550." ENSG00000124813 RUNX2 9182765 119600 Cleidocranial dysplasia "Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898." ENSG00000124813 RUNX2 9182765 119600 "Cleidocranial dysplasia, forme fruste, dental anomalies only" "Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898." ENSG00000124813 RUNX2 9182765 119600 "Cleidocranial dysplasia, forme fruste, with brachydactyly" "Marie, P., Sainton, P. On hereditary cleido-cranial dysostosis. Rev. Neurol. 6: 835 only, 1898." ENSG00000102104 RS1 9326935 312700 Retinoschisis "Haas, J. Ueber das Zusammenvorkommen von Veranderungen der Retina und Chorioidea. Arch. Augenheilk. 37: 343-348, 1898." ENSG00000012174 MBTPS2 19361614 308205 IFAP syndrome with or without BRESHECK syndrome "MacLeod, J. M. H. Three cases of 'ichthyosis follicularis' associated with baldness. Brit. J. Derm. 21: 165-189, 1909." ENSG00000163501 IHH 12525541 112500 "Brachydactyly, type A1" "Farabee, W. C. Hereditary and sexual influence in meristic variation: a study of digital malformations in man. Ph.D. Thesis: Harvard Univ. (pub.) 1903." ENSG00000204983 PRSS1 8841182 167800 "Pancreatitis, hereditary" "Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896." ENSG00000102967 DHODH 19915526 263750 Miller syndrome 17759620 ENSG00000005102 MEOX1 23290072 214300 Klippel-Feil syndrome 2 "M. Klippel, A. Feil: Un cas d'absence des vertèbres cervicales avec cage thoracique remontant jusqu’ à la base du crâne (cage thoracique cervicale). Nouvelle iconographie de la Salpêtrière, Paris, 1912; 25: 223-250. English translation in Bick, Classics of Orthopaedics, 511-516." ENSG00000138829 FBN2 9106527 121050 "Contractural arachnodactyly, congenital" "Marfan, M. A. B. Un cas de deformation congenitale des quatre membres plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement. Bull. Mem. Soc. Med. Hop. Paris 13: 220-226, 1896." ENSG00000091137 SLC26A4 9398842 274600 Pendred syndrome "Pendred, V. Deaf-mutism and goitre. Lancet 148: 532 only, 1896. Note: Originally Volume II." ENSG00000165731 RET 2886917 171400 Multiple endocrine neoplasia IIA "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886" ENSG00000067842 ATP2B3 22912398 302500 "Spinocerebellar ataxia, X-linked 1" "Brandenberg, F. Kasuistische Beitrage zur gleichgeschlechtlichen Vererbung. Arch. Rass. Ges. Biol. 7: 290-305, 1910." ENSG00000188158 NHS 19414485 302200 "Cataract 40, X-linked" "Stieren, E. A study in atavistic descent of congenital cataract through four generations. Ophthal. Rev. 16: 234-238, 1907." ENSG00000066427 ATXN3 7874163 109150 Machado-Joseph disease "Klippel, M., Durante, G. Contribution a l'etude des affections nerveuses familiales et hereditaires. Rev. Med. 12: 745-786, 1892." ENSG00000169738 DCXR 22042873 260800 Pentosuria "Garrod, A. E. The Croonian lectures on inborn errors of metabolism. Lecture IV. Lancet 172: 214-220, 1908. Note: Originally Volume II." ENSG00000170484 KRT74 20346438 194300 "Woolly hair, autosomal dominant" "Gossage, A. M. The inheritance of certain human abnormalities. Quart. J. Med. 1: 331-347, 1907." ENSG00000126233 SLURP1 11285253 248300 Meleda disease "Neumann, (NI). Ueber das Keratoma hereditarium. Arch. Derm. Syph. 42: 163-174, 1898." ENSG00000198836 OPA1 11017080 165500 Optic atrophy 1 "Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897." ENSG00000198836 OPA1 11017079 165500 Optic atrophy 1 "Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897." ENSG00000164266 SPINK1 10835640 167800 "Pancreatitis, hereditary" "Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896." ENSG00000124788 ATXN1 7951322 164400 Spinocerebellar ataxia 1 "Menzel, P. Beitrag zur Kenntniss der hereditaeren Ataxie und Kleinhirnatrophie. Arch. Psychiat. Nervenkr. 22: 160-190, 1890." ENSG00000170442 KRT86 25557232 158000 Monilethrix "Cranston Low, R. Pathology and etiology of monilethrix. J. Pathol. Bact. 14: 230-239, 1910." ENSG00000205426 KRT81 25557232 158000 Monilethrix "Cranston Low, R. Pathology and etiology of monilethrix. J. Pathol. Bact. 14: 230-239, 1910." ENSG00000198836 OPA1 25012220 210000 Behr syndrome "Behr, C. Die komplizierte, hereditaer-familiaere Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex. Klin. Monatsbl. Augenheilkd. 47: 138-160, 1909." ENSG00000012174 MBTPS2 20672378 308800 "Keratosis follicularis spinulosa decalvans, X-linked" "Lameris, H. J. Ichthyosis follicularia. Ned. Tijdschr. Geneeskd. 2: 1524, 1905." ENSG00000160213 CSTB 8596935 254800 "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" "Unverricht, H. Die Myoclonie. Berlin: Franz Deuticke (pub.) 1891." ENSG00000142168 SOD1 8446170 105400 Amyotrophic lateral sclerosis 1 "Hammond, W. A. A Treatise on the Diseases of the Nervous System. (7th ed.) Philadelphia: Blakiston, Son, & Co. (pub.) 1888. P. 351." ENSG00000177628 GBA 2880291 230900 "Gaucher disease, type II" "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000007372 PAX6 12721955 165550 Optic nerve hypoplasia "Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897." ENSG00000037280 FLT4 9817924 153100 "Lymphedema, hereditary, IA" "Milroy, W. F. An undescribed variety of hereditary oedema. N.Y. Med. J. 56: 505-508, 1892." ENSG00000109099 PMP22 1303281 118220 "Charcot-Marie-Tooth disease, type 1A" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000007314 SCN4A 1316765 168300 Paramyotonia congenita "Eulenburg, A. Ueber eine familiare, durch 6 generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt 12: 265-272, 1886." ENSG00000177628 GBA 3353383 230800 "Gaucher disease, type I" "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000120708 TGFBI 9054935 121900 "Corneal dystrophy, Groenouw type I" "Groenouw, A. Knoetchenfoermige Hornhauttruebungen (Noduli corneae). Arch. Augenheilk. 21: 281-289, 1890." ENSG00000158887 MPZ 7693129 118200 "Charcot-Marie-Tooth disease, type 1B" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000169562 GJB1 8266101 302800 "Charcot-Marie-Tooth neuropathy, X-linked dominant, 1" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000213614 HEXA 2848800 272800 "GM2-gangliosidosis, several forms" "W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55." ENSG00000213614 HEXA 2848800 272800 Hex A pseudodeficiency "W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55." ENSG00000213614 HEXA 2848800 272800 Tay-Sachs disease "W. Tay: Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Societies of the United Kingdom, 1881-1882, 1: 55." ENSG00000100345 MYH9 11023810 603622 "Deafness, autosomal dominant 17" "Scheibe, A. A case of deaf-mutism, with auditory atrophy and anomalies of development in the membranous labyrinth of both ears. Arch. Otolaryng. 21: 12-22, 1892." ENSG00000165731 RET 8825918 171300 Pheochromocytoma "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886." ENSG00000134086 VHL 8592333 171300 Pheochromocytoma "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886." ENSG00000197746 PSAP 2060627 610539 "Gaucher disease, atypical, due to saposin C deficiency " "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000133019 CHRM3 22077972 100100 Prune belly syndrome "Osler, W. Congenital absence of the abdominal muscles with distended and hypertrophied urinary bladder. Bull. Johns Hopkins Hosp. 12: 331-333, 1901." ENSG00000083799 CYLD 12190880 605041 "Brooke-Spiegler syndrome, " "Brooke, H. G. Epithelioma adenoides cysticum. Brit. J. Derm. 4: 269-287, 1892" ENSG00000001626 CFTR 17489851 167800 "Pancreatitis, idiopathic" "Chiara, H. Ueber Selbstverdauung des menschlichen Pankreas. Ztschr. Heilkunde 17: 70-96, 1896." ENSG00000083799 CYLD 14632188 601606 "Trichoepithelioma, multiple familial, 1" "Brooke, H. G. Epithelioma adenoides cysticum. Brit. J. Derm. 4: 269-287, 1892." ENSG00000177628 GBA 8244344 231000 "Gaucher disease, type III" "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000116001 TIA1 23401021 604454 Welander distal myopathy 20760370 ENSG00000183770 FOXL2 11175783 110100 "Blepharophimosis, epicanthus inversus, and ptosis, type 1" "Vignes, (NI). Epicanthus hereditaire. Rev. Gen. Ophthal. 8: 438, 1889." ENSG00000183770 FOXL2 11175783 110100 "Blepharophimosis, epicanthus inversus, and ptosis, type 2" "Vignes, (NI). Epicanthus hereditaire. Rev. Gen. Ophthal. 8: 438, 1889." ENSG00000158887 MPZ 9595994 607677 "Charcot-Marie-Tooth disease, type 2I" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000122877 EGR2 9537424 607678 "Charcot-Marie-Tooth disease, type 1D" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000141756 FKBP10 20696291 259450 Bruck syndrome 1 "Bruck, A. Ueber eine seltene Form von Erkrankung der Knochen und Gelenke. Dtsch. Med. Wschr. 23: 152-155, 1897." ENSG00000109099 PMP22 10330345 118300 "Charcot-Marie-Tooth disease, type 1E" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000158887 MPZ 10071056 607736 "Charcot-Marie-Tooth disease, type 2J" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000158887 MPZ 10406984 607791 "Charcot-Marie-Tooth disease, dominant intermediate D" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000177628 GBA 8544197 231005 "Gaucher disease, type IIIC" "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000204370 SDHD 11156372 171300 Pheochromocytoma "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886." ENSG00000087053 MTMR2 10802647 601382 "Charcot-Marie-Tooth disease, type 4B1" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000104419 NDRG1 10831399 601455 "Charcot-Marie-Tooth disease, type 4D" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000277586 NEFL 10841809 607684 "Charcot-Marie-Tooth disease, type 2E" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000177628 GBA 8929950 608013 "Gaucher disease, perinatal lethal" "Gaucher, P. C. E. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Thesis, Faculte-de Medicine: Paris 1882." ENSG00000171403 KRT9 7512862 144200 "Palmoplantar keratoderma, epidermolytic" "Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880." ENSG00000167768 KRT1 7528239 600962 "Palmoplantar keratoderma, nonepidermolytic " "Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880." ENSG00000172817 CYP7B1 18252231 270800 "Spastic paraplegia 5A, autosomal recessive" "Freud, S. Ueber familiaere Formen von cerebralen Diplegien. Neurol. Centrabl. (Mendel) 12: 512-515 and 542-547, 1893." ENSG00000054523 KIF1B 11389829 118210 "Charcot-Marie-Tooth disease, type 2A1" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000105227 PRX 11157804 614895 "Charcot-Marie-Tooth disease, type 4F" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000101200 AVP 10369876 125700 "Diabetes insipidus, neurohypophyseal" "Weil, A. Ueber die hereditaere Form des Diabetes insipidus. Virchows Arch. Path. Anat. 95: 70-95, 1884." ENSG00000101276 SLC52A3 20206331 211530 Brown-Vialetto-Van Laere syndrome 1 "Brown, C. H. Infantile amyotrophic lateral sclerosis of the family type. J. Nerv. Ment. Dis. 21: 707-716, 1894." ENSG00000104381 GDAP1 11743579 214400 "Charcot-Marie-Tooth disease, type 4A" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000160789 LMNA 11799477 605588 "Charcot-Marie-Tooth disease, type 2B1" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000104381 GDAP1 11743580 607706 "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000104381 GDAP1 12499475 608340 "Charcot-Marie-Tooth disease, recessive intermediate, A" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000136936 XPA 2234061 278700 "Xeroderma pigmentosum, group A" "Hebra, F., Kaposi, M. On Diseases of the Skin, Including Exanthemata. Vol. 3. London: New Sydenham Society (pub.) 1874. Pp. 252-258." ENSG00000101276 SLC52A3 21110228 211500 Fazio-Londe disease "Londe, P. Paralysie bulbaire progressive, infantile et familiale. Rev. Med. 14: 212-254, 1894." ENSG00000111199 TRPV4 19232556 156530 Metatropic dysplasia "Kaufmann, E. Untersuchungen ueber die sogenannte foetale Rachitis. (Chondrodystrophia foetalis). Berlin: Georg Reimer (pub.) 1892." ENSG00000100311 PDGFB 17478383 607907 Dermatofibrosarcoma protuberans "Taylor, R. W. Sarcomatous tumors resembling in some respects keloids. Arch. Derm. 8: 384-387, 1890." ENSG00000116688 MFN2 16437557 601152 Hereditary motor and sensory neuropathy VIA "Vizioli, F. Dell' atrofia muscolare progressiva nevrotica. Boll. Accad. Med.-Chir. Napoli No Vol.: 173-183, 1889." ENSG00000160789 LMNA 12714972 176670 Hutchinson-Gilford progeria "Hutchinson, J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet I: 923 only, 1886." ENSG00000075785 RAB7A 12545426 600882 "Charcot-Marie-Tooth disease, type 2B" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000189067 LITAF 12525712 601098 "Charcot-Marie-Tooth disease, type 1C" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000106105 GARS 12690580 601472 "Charcot-Marie-Tooth disease, type 2D" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000169247 SH3TC2 14574644 601596 "Charcot-Marie-Tooth disease, type 4C" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000133812 SBF2 12554688 604563 "Charcot-Marie-Tooth disease, type 4B2" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000104381 GDAP1 12707075 607831 "Charcot-Marie-Tooth disease, axonal, type 2K" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000188037 CLCN1 7981750 160800 "Myotonia congenita, dominant" "Thomsen, J. Tonische Kraempfe in willkuerlich beweglichen Muskeln in Folge von ererbter psychischer Disposition: Ataxia muscularis? Arch. Psychiat. Nervenkr. 6: 702-718, 1876" ENSG00000049540 ELN 16085695 123700 "Cutis laxa, AD" "Kopp, W. Demonstration zweier Faelle von 'cutis laxa'. Muench. Med. Wschr. 35: 259 only, 1888." ENSG00000128710 HOXD10 15146389 192950 "Charcot-Marie-Tooth disease, foot deformity of" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000106211 HSPB1 15122254 606595 "Charcot-Marie-Tooth disease, axonal, type 2F" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000116688 MFN2 15064763 609260 "Charcot-Marie-Tooth disease, axonal, type 2A2A" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000138030 KHK 7833921 229800 Fructosuria "Czapek, F. Eine seltene Form von Diabetes mellitus. Prager Med. Wochenschr. 1: 245-249, 1876." ENSG00000184640 SEPT9 16186812 162100 "Amyotrophy, hereditary neuralgic" "Dreschfeld, J. On some rarer forms of muscular atrophies. Brain 79: 226-232, 1886." ENSG00000079805 DNM2 15731758 606482 "Charcot-Marie-Tooth disease, dominant intermediate B" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000152137 HSPB8 15565283 608673 "Charcot-Marie-Tooth disease, axonal, type 2L" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000091262 ABCC6 10835643 264800 Pseudoxanthoma elasticum "Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881." ENSG00000091262 ABCC6 10835642 264800 Pseudoxanthoma elasticum "Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881." ENSG00000091262 ABCC6 10811882 264800 Pseudoxanthoma elasticum "Rigal, (NI). Observation pour servir a l'histoire de la cheloide diffuse xanthelasmique. Ann. Derm. Syph. 21: 491-501, 1881." ENSG00000198947 DMD 3319190 310200 Duchenne muscular dystrophy "G. B. Duchenne: Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclérosique. Archives générales de médecine, Paris, 6 sér, 1868, 11: 5-25, 179-209, 305-321, 421-443, 552-588." ENSG00000213689 TREX1 17357087 610448 Chilblain lupus 20752149 ENSG00000128710 HOXD10 16450407 192950 "Vertical talus, congenital" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000134684 YARS 16429158 608323 "Charcot-Marie-Tooth disease, dominant intermediate C" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000178235 SLITRK1 16224024 137580 Tourette syndrome "de la Tourette, G. Etude sur une affection nerveuse, characterisee par l'incoordination motrice accompagnee de l'echolalie et de coprolalie. Arch. Neurol. 9: 158-200, 1885." ENSG00000147224 PRPS1 17701900 311070 "Charcot-Marie-Tooth disease, X-linked recessive, 5" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000139132 FGD4 17564972 609311 "Charcot-Marie-Tooth disease, type 4H" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000139132 FGD4 17564959 609311 "Charcot-Marie-Tooth disease, type 4H" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000112367 FIG4 17572665 611228 "Charcot-Marie-Tooth disease, type 4J" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000167768 KRT1 11286630 144200 "Palmoplantar keratoderma, epidermolytic" "Thost, A. Ueber erbliche Ichthyosis palmaris et plantaris cornea. Dissertation: Heidelberg (pub.) 1880." ENSG00000197386 HTT 8458085 143100 Huntington disease "Huntington, G. On chorea. Med. Surg. Reporter 26: 317-321, 1872." ENSG00000054523 KIF1B 18334619 171300 Pheochromocytoma "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886." ENSG00000079805 DNM2 18560793 606482 "Charcot-Marie-Tooth disease, axonal, type 2M" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000116688 MFN2 18458227 617087 "Charcot-Marie-Tooth disease, axonal, type 2A2B" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000112619 PRPH2 1749427 608133 Leber congenital amaurosis 18 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000112619 PRPH2 1749427 608133 Retinitis pigmentosa 7 and digenic "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000104973 MED25 19290556 605589 "Charcot-Marie-Tooth disease, type 2B2" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000141655 TNFRSF11A 10615125 602080 "Paget disease of bone 2, early-onset" "J. Paget: On a form of chronic inflammation of bones (osteitis deformans). Medico-Chirurgical Transactions, London, 1877, 60: 37-63. " ENSG00000065427 KARS 20920668 613641 "Charcot-Marie-Tooth disease, recessive intermediate, B" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000148356 LRSAM1 20865121 614436 "Charcot-Marie-Toothe disease, axonal, type 2P" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000117118 SDHB 20503330 171300 Pheochromocytoma "Frankel, F. Ein Fall von doppelseitigem, vollig latent verlaufenen Nebennierentumor und gleichzeitiger Nephritis mit Veranderungen am Circulationsapparat und Retinitis. Arch. Path. Anat. Physiol. Klin. Med. 103: 244-263, 1886." ENSG00000090861 AARS 20045102 613287 "Charcot-Marie-Tooth disease, axonal, type 2N" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000139116 KIF21A 14595441 135700 "Fibrosis of extraocular muscles, congenital, 1" "Heuck, G. Ueber angeborenen vererbten Beweglichkeitsdefekts der Augen. Klin. Monatsbl. Augenheilkd. 17: 253 only, 1879." ENSG00000115380 EFEMP1 10369267 126600 Doyne honeycomb degeneration of retina "Hutchinson, J., Tay, W. Symmetrical central choroidoretinal disease occurring in senile persons. R. London Ophthal. Hosp. Rep. 8: 231-244, 1875." ENSG00000203485 INF2 22187985 614455 "Charcot-Marie-Tooth disease, dominant intermediate E" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000197102 DYNC1H1 21820100 614228 "Charcot-Marie-Tooth disease, axonal, type 20" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000139116 KIF21A 15223798 135700 "Fibrosis of extraocular muscles, congenital, 3B" "Heuck, G. Ueber angeborenen vererbten Beweglichkeitsdefekts der Augen. Klin. Monatsbl. Augenheilkd. 17: 253 only, 1879." ENSG00000149489 ROM1 8202715 608133 "Retinitis pigmentosa 7, digenic" "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000161011 SQSTM1 11992264 167250 Paget disease of bone 3 20896492 ENSG00000181192 DHTKD1 23141294 615025 "Charcot-Marie-Tooth disease, axonal, type 2Q" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000169432 SCN9A 14985375 133020 "Erythermalgia, primary" "Mitchell, S. W. On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded. Am. J. Med. Sci. 76: 2-36, 1878" ENSG00000169432 SCN9A 14985375 133020 Small fiber neuropathy "Mitchell, S. W. On a rare vaso-motor neurosis of the extremities, and on the maladies with which it may be confounded. Am. J. Med. Sci. 76: 2-36, 1878" ENSG00000148290 SURF1 24027061 616684 "Charcot-Marie-Tooth disease, type 4K" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000171680 PLEKHG5 23777631 615376 "Charcot-Marie-Tooth disease, recessive intermediate C" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000166986 MARS 23729695 616280 "Charcot-Marie-Tooth disease, axonal, type 2U" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000109654 TRIM2 23562820 615490 "Charcot-Marie-Tooth disease, type 2R" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000114450 GNB4 23434117 615185 "Charcot-Marie-Tooth disease, dominant intermediate F" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000067992 PDK3 23297365 300905 "Charcot-Marie-Tooth disease, X-linked dominant, 6" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000170445 HARS 22930593 616625 "Charcot-Marie-Tooth disease, axonal, type 2W" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000132518 GUCY2D 8944027 204000 Leber congenital amaurosis 1 "Leber, T. Ueber Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch. Ophthal. 15: 1-25, 1869." ENSG00000132740 IGHMBP2 25439726 616155 "Charcot-Marie-Tooth disease, axonal, type 2S" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000111775 COX6A1 25152455 616039 "Charcot-Marie-Tooth disease, recessive intermediate D" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000165280 VCP 25125609 616687 "Charcot-Marie-Tooth disease, type 2Y" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000166147 FBN1 15054843 129600 "Ectopia lentis, familial" "Horner, J. F. Die Erblichkeit des Daltonismus. In, Amtlicher Bericht ueber die Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876. Zurich: Druck der Genossenschaftsbuchdruckerei 1876. Pp. 208-211." ENSG00000116745 RPE65 9326927 204100 Leber congenital amaurosis 2 "Leber, T. Ueber Retinitis pigmentosa und angeborene Amaurose. Albrecht von Graefes Arch. Ophthal. 15: 1-25, 1869." ENSG00000108784 NAGLU 25818867 616491 "Charcot-Marie-Tooth disease, axonal, type 2V" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000103546 SLC6A2 10684912 604715 Orthostatic intolerance "Da Costa, J. M. On irritable heart: a clinical study of a form of functional cardiac disorder and its consequences. Am. J. Med. Sci. 61: 17 only, 1871." ENSG00000105392 CRX 9537410 613829 Leber congenital amaurosis 7 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000100285 NEFH 27040688 616924 "Charcot-Marie-Tooth disease, axonal, type 2CC" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000196549 MME 26991897 617017 "Charcot-Marie-Tooth disease, axonal, type 2T" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000104133 SPG11 26556829 616668 "Charcot-Marie-Tooth disease, axonal, type 2X" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000133422 MORC2 26497905 616688 "Charcot-Marie-Tooth disease, axonal, type 2Z" "Charcot, J. M., Marie, P. Sur une forme particuliere d'atrophie musculaire progressive, souvent familiale, debutant par les pieds et les jambes et atteignant plus tard les mains. Rev. Med. 6: 97-138, 1886" ENSG00000163297 ANTXR2 14508707 228600 Hyaline fibromatosis syndrome "Murray, J. On three peculiar cases of molluscum fibrosum in one family. Med. Chir. Trans. London 56: 235-238, 1873." ENSG00000163297 ANTXR2 12973667 228600 Hyaline fibromatosis syndrome "Murray, J. On three peculiar cases of molluscum fibrosum in one family. Med. Chir. Trans. London 56: 235-238, 1873." ENSG00000126895 AVPR2 1356229 304800 "Diabetes insipidus, nephrogenic" "Trousseau, A. Polydipsia. Lecture LXV.In: Clinique Medicale de L'Hotel-Dieu de Paris. Vol. 2. Paris: J.-B. Balliere 1862. P. 607." ENSG00000126895 AVPR2 1303271 304800 "Diabetes insipidus, nephrogenic" "Trousseau, A. Polydipsia. Lecture LXV.In: Clinique Medicale de L'Hotel-Dieu de Paris. Vol. 2. Paris: J.-B. Balliere 1862. P. 607." ENSG00000129221 AIPL1 10873396 604393 Leber congenital amaurosis 4 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000129221 AIPL1 10873396 604393 "Retinitis pigmentosa, juvenile" "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000129221 AIPL1 10615133 604393 Cone-rod dystrophy "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000160957 RECQL4 10319867 268400 Rothmund-Thomson syndrome "Rothmund, A. Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration. Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868." ENSG00000010704 HFE 8696333 235200 Hemochromatosis "Trousseau, A. Clinique Medicale de l'Hotel de Paris. Vol. II. Paris: J.-B. Balliere (pub.) 1865. Pp. 663-698." ENSG00000121207 LRAT 11381255 613341 "Retinal dystrophy, early-onset severe" "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000092200 RPGRIP1 11283794 613826 Leber congenital amaurosis 6 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000134376 CRB1 11231775 613835 Leber congenital amaurosis 8 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000139988 RDH12 15258582 612712 Leber congenital amaurosis 13 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000112041 TULP1 15024725 613843 Leber congenital amaurosis 15 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000165474 GJB2 9139825 220290 "Deafness, autosomal recessive 1A" "Boudin, M. De la necessite des croisements et du danger des unions consanguine dans l'espece humaine et parmi les animaux. Rec. Med. Chir. Pharm. Milit. 7: 193-197, 1862." ENSG00000198570 RD3 17186464 610612 Leber congenital amaurosis 12 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000198707 CEP290 16909394 611755 Leber congenital amaurosis 10 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000121207 LRAT 17011878 613341 Leber congenital amaurosis 14 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000106348 IMPDH1 16384941 613837 Leber congenital amaurosis 11 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000135338 LCA5 17546029 604537 Leber congenital amaurosis 5 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000121207 LRAT 18055821 613341 "Retinitis pigmentosa, juvenile" "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000042317 SPATA7 19268277 604232 Leber congenital amaurosis 3 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000042317 SPATA7 19268277 604232 "Retinitis pigmentosa, juvenile, autosomal recessive" "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000138039 LHCGR 7692306 176410 "Precocious puberty, male" "Stone, R. K. Extraordinary precocity in the development of the male sexual organs and muscular system in a child four years old. Am. J. Med. Sci. 24: 561-564, 1852." ENSG00000115474 KCNJ13 21763485 614186 Leber congenital amaurosis "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000173614 NMNAT1 22842230 608553 Leber congenital amaurosis 9 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000169071 ROR2 10700182 113000 "Brachydactyly, type B1" "MacKinder, D. Deficiency of fingers transmitted through six generations. Brit. Med. J. 1: 845-846, 1857." ENSG00000156466 GDF6 23307924 615360 Leber congenital amaurosis 17 "T. Leber: Über Retinitis pigmentosa und angeborene Amaurose. [Albrecht von Graefes] Archiv für Ophthalmologie, Berlin, 1869, 15, 3: 1-25. " ENSG00000032444 PNPLA6 25480986 245800 Laurence-Moon syndrome "Laurence, J. Z., Moon, R. C. Four cases of retinitis pigmentosa occurring in the same family and accompanied by general imperfection of development. Ophthal. Rev. 2: 32-41, 1866." ENSG00000122194 PLG 9242524 217090 Dysplasminogenemia "Bouisson, M. Ophthalmie sur-aigue avec formation de pseudomembranes a la surface de la conjonctive. Ann. Ocul. (Paris) 17: 100-104, 1847." ENSG00000122194 PLG 9242524 217090 "Plasminogen deficiency, type I" "Bouisson, M. Ophthalmie sur-aigue avec formation de pseudomembranes a la surface de la conjonctive. Ann. Ocul. (Paris) 17: 100-104, 1847." ENSG00000188937 NYX 8434607 310500 "Night blindness, congenital stationary (complete), 1A, X-linked" "Cunier, F. Histoire d'une hemeralopie hereditaire depuis deux siecles dans une famille de la commune de Vendemian pres de Montpelier. Ann. Soc. Med. Gand. 4: 385-395, 1838." ENSG00000147224 PRPS1 20021999 304500 "Deafness, X-linked 1" "Wilde, W. R. Practical Observations on Aural Surgery and the Nature and Diagnosis of Diseases of the Ear. London: Churchill (pub.) 1853." ENSG00000114349 GNAT1 8673138 610444 "Night blindness, congenital stationary, autosomal dominant 3" "Cunier, F. Histoire d'une hemeralopie hereditaire de puis deux siecles dans une famille de al commune de Vendemian pres Montpellier. Ann. Soc. Med. Gand. 4: 385-395, 1838. Note: Alternate: Ann. Ocul. (Paris) 1: 32-34, 1838 (synopsis)." ENSG00000083799 CYLD 10835629 132700 "Cylindromatosis, familial, 13" 20895749 ENSG00000168575 SLC20A2 22327515 213600 "Basal ganglia calcification, idiopathic, 1" "Delacour, A. Ossification des capillaires du cerveau. Ann. Med. Psychol. 2: 458-461, 1850." ENSG00000118197 DDX59 23972372 174300 Orofaciodigital syndrome V "Roux, (NI). Bec-de-lievre unilateral. Gaz. Hop. (2nd series) 9: 274 only, 1847." ENSG00000186575 NF2 8379998 101000 "Neurofibromatosis, type 2" "Wishart, J. H. Case of tumours in the skull, dura mater, and brain. Edinburgh Med. Surg. J. 18: 393-397, 1822." ENSG00000145335 SNCA 9197268 168601 Parkinson disease 1 "Parkinson, J. " ENSG00000185345 PRKN 9560156 600116 "Parkinson disease, juvenile, type 2" "Parkinson, J. " ENSG00000011143 MKS1 16415886 249000 Meckel syndrome 1 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000164953 TMEM67 16415887 607361 Meckel syndrome 3 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000198707 CEP290 17564974 611134 Meckel syndrome 4 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000103494 RPGRIP1L 17558409 611561 Meckel syndrome 5 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000113971 NPHP3 18371931 267010 Meckel syndrome 7 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000048342 CC2D2A 18513680 612284 Meckel syndrome 6 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000145335 SNCA 14593171 605543 Parkinson disease 4 "Parkinson, J. " ENSG00000116288 PARK7 12446870 606324 "Parkinson disease 7, autosomal recessive early-onset" "Parkinson, J. " ENSG00000158828 PINK1 15087508 605909 "Parkinson disease 6, early onset" "Parkinson, J. " ENSG00000188906 LRRK2 15541308 607060 Parkinson disease 8 "Parkinson, J. " ENSG00000187049 TMEM216 20512146 603194 Meckel syndrome 2 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000115317 HTRA2 15961413 610297 Parkinson disease 13 "Parkinson, J. " ENSG00000123810 B9D2 21763481 614175 Meckel syndrome 10 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000168778 TCTN2 21462283 613885 Meckel syndrome 8 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000205084 TMEM231 23349226 615397 Meckel syndrome 11 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000100225 FBXO7 18513678 260300 "Parkinson disease 15, autosomal recessive" "Parkinson, J. " ENSG00000204120 GIGYF2 18358451 607688 Parkinson disease 11 "Parkinson, J. " ENSG00000108641 B9D1 24886560 617120 Meckel syndrome 9 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000118193 KIF14 24128419 616258 Meckel syndrome 12 "Meckel, J. F. Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch. Arch. Physiol. 7: 99-172, 1822." ENSG00000184381 PLA2G6 18570303 612953 "Parkinson disease 14, autosomal recessive" "Parkinson, J. " ENSG00000114867 EIF4G1 21907011 614251 Parkinson disease 18 "Parkinson, J. " ENSG00000069329 VPS35 21763482 614203 Parkinson disease 17 "Parkinson, J. " ENSG00000116675 DNAJC6 22563501 615528 "Parkinson disease 19a, juvenile-onset" "Parkinson, J. " ENSG00000159082 SYNJ1 23804577 615530 Parkinson disease 20 "Parkinson, J. " ENSG00000159082 SYNJ1 23804563 615530 Parkinson disease 20 "Parkinson, J. " ENSG00000182220 ATP6AP2 23595882 300911 "Parkinsonism with spasticity, X-linked" "Parkinson, J. " ENSG00000106153 CHCHD2 25662902 616710 "Parkinson disease 22, autosomal dominant" "Parkinson, J. " ENSG00000129003 VPS13C 26942284 616840 "Parkinson disease 23, autosomal recessive, early onset" "Parkinson, J. " ENSG00000116675 DNAJC6 26528954 615528 "Parkinson disease 19b, early-onset" "Parkinson, J. " ENSG00000164692 COL1A2 2897363 166220 "Osteogenesis imperfecta, type IV" "Ekman, O. J. Descriptionem casus aliquot osteomalacia sistens. Uppsala: Dissertatio Medica. 1788." ENSG00000108821 COL1A1 2745420 166220 "Osteogenesis imperfecta, type IV" "Ekman, O. J. Descriptionem casus aliquot osteomalacia sistens. Uppsala: Dissertatio Medica. 1788." ENSG00000182944 EWSR1 9135495 612219 Ewing sarcoma "Ewing, J. Diffuse endothelioma of bone. Proc. N. Y. Path. Soc. 21: 17-24, 1921" ENSG00000091592 NLRP1 27965258 617388 Autoinflammation with arthritis and dyskeratosis 16918630