Gene stable ID	HGNC symbol	MIM gene accession	Diseases	OMIM ID	pubmed ID
387281	LCRB	152424	"Thalassemia, Hispanic gamma-delta-beta, 613985 (3)"	613985	8314558
ENSG00000000419	DPM1	603503	"Congenital disorder of glycosylation, type Ie, 608799 (3)"	608799	10642597
ENSG00000000971	CFH	134370	"Basal laminar drusen, 126700 (3)"	126700	18252232
ENSG00000000971	CFH	134370	"Complement factor H deficiency, 609814 (3)"	609814	9312129
ENSG00000000971	"CFH, HF1, HUS, ARMD4, AHUS1"	134370	"{Macular degeneration, age-related, 4}, 610698 (3)"	610698	15761122
ENSG00000001084	GCLC	606857	"Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450 (3)"	230450	10515893
ENSG00000001497	"LAS1L, WTS"	300964	"Wilson-Turner syndrome, 309585 (3)"	309585	25644381
ENSG00000001626	CFTR	602421	"Congenital bilateral absence of vas deferens, 277180 (3)"	277180	1359500
ENSG00000001626	CFTR	602421	"Cystic fibrosis, 219700 (3)"	219700	2570460
ENSG00000001626	"CFTR, ABCC7, CF, MRP7"	602421	"{Pancreatitis, idiopathic}, 167800 (3)"	167800	17489851
ENSG00000001631	KRIT1	604214	"Cavernous malformations of CNS and retina, 116860 (3)"	116860	11831930
ENSG00000001631	KRIT1	604214	"Cerebral cavernous malformations-1, 116860 (3)"	116860	10508515
ENSG00000001631	KRIT1	604214	"Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3)"	116860	10814716
ENSG00000003137	CYP26B1	605207	"Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)"	614416	22019272
ENSG00000003393	ALS2	606352	"Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)"	205100	"11586298, 11586297"
ENSG00000003393	"ALS2, ALSJ, PLSJ, IAHSP"	606352	"Primary lateral sclerosis, juvenile, 606353 (3)"	606353	11586298
ENSG00000003393	"ALS2, ALSJ, PLSJ, IAHSP"	606352	"Spastic paralysis, infantile onset ascending, 607225 (3)"	607225	12145748
ENSG00000003400	CASP10	601762	"Autoimmune lymphoproliferative syndrome, type II, 603909 (3)"	603909	10412980
ENSG00000004455	AK2	103020	"Reticular dysgenesis, 267500 (3)"	267500	19043417
ENSG00000004487	KDM1A	609132	"Cleft palate, psychomotor retardation, and distinctive facial features, 616728 (3)"	616728	24838796
ENSG00000004838	ZMYND10	607070	"Ciliary dyskinesia, primary, 22, 615444 (3)"	615444	23891469
ENSG00000004848	ARX	300382	"Epileptic encephalopathy, early infantile, 1, 308350 (3)"	308350	10353782
ENSG00000004848	ARX	300382	"Hydranencephaly with abnormal genitalia, 300215 (3)"	300215	12379852
ENSG00000004848	"ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32"	300382	"Lissencephaly, X-linked 2, 300215 (3)"	300215	12379852
ENSG00000004848	"ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32"	300382	"Mental retardation, X-linked 29 and others, 300419 (3)"	300419	11971879
ENSG00000004848	"ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32"	300382	"Partington syndrome, 309510 (3)"	309510	11889467
ENSG00000004848	"ARX, ISSX, PRTS, MRXS1, MRX36, MRX54, MRX43, MRX87, MRX29, MRX32"	300382	"Proud syndrome, 300004 (3)"	300004	14722918
ENSG00000004864	SLC25A13	603859	"Citrullinemia, adult-onset type II, 603471 (3)"	603471	10369257
ENSG00000004864	SLC25A13	603859	"Citrullinemia, type II, neonatal-onset, 605814 (3)"	605814	11281457
ENSG00000004939	SLC4A1	109270	"Cryohydrocytosis, 185020 (3)"	185020	16227998
ENSG00000004939	"SLC4A1, AE1, EPB3, SPH4, SAO, CHC"	109270	"Ovalocytosis, SA type, 166900 (3)"	166900	1722314
ENSG00000004939	"SLC4A1, AE1, EPB3, SPH4, SAO, CHC"	109270	"Renal tubular acidosis, distal, AD, 179800 (3)"	179800	9312167
ENSG00000004939	"SLC4A1, AE1, EPB3, SPH4, SAO, CHC"	109270	"Renal tubular acidosis, distal, AR, 611590 (3)"	611590	9854053
ENSG00000004939	"SLC4A1, AE1, EPB3, SPH4, SAO, CHC"	109270	"Spherocytosis, type 4, 612653 (3)"	612653	8282779
ENSG00000004961	"HCCS, MCOPS7, LSDMCA1"	300056	"Linear skin defects with multiple congenital anomalies 1, 309801 (3)"	309801	16059943
ENSG00000005073	"HOXA11, HOX1I, RUSAT1"	142958	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, 605432 (3)"	605432	11101832
ENSG00000005102	"MEOX1, MOX1, KFS2"	600147	"Klippel-Feil syndrome 2, 214300 (3)"	214300	23290072
ENSG00000005339	"CREBBP, CBP, RSTS1"	600140	"Rubinstein-Taybi syndrome 1, 180849 (3)"	180849	7630403
ENSG00000005381	MPO	606989	"Myeloperoxidase deficiency, 254600 (3)"	254600	2462938
ENSG00000005471	ABCB4	171060	"Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)"	614972	9419367
ENSG00000005471	ABCB4	171060	"Cholestasis, progressive familial intrahepatic 3, 602347 (3)"	602347	9419367
ENSG00000005884	ITGA3	605025	"Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)"	614748	22512483
ENSG00000005893	LAMP2	309060	"Danon disease, 300257 (3)"	300257	10972294
ENSG00000006016	CRLF1	604237	"Cold-induced sweating syndrome 1, 272430 (3)"	272430	12509788
ENSG00000006042	"TMEM98, NNO4"	615949	"Nanophthalmos 4, 615972 (3)"	615972	24852644
ENSG00000006071	ABCC8	600509	"Diabetes mellitus, transient neonatal 2, 610374 (3)"	610374	16885549
ENSG00000006071	ABCC8	600509	"Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)"	256450	7847376
ENSG00000006283	"CACNA1G, SCA42"	604065	"Spinocerebellar ataxia 42, 616795 (3)"	616795	26456284
ENSG00000006530	AGK	610345	"Cataract 38, autosomal recessive, 614691 (3)"	614691	22415731
ENSG00000006611	USH1C	605242	"Deafness, autosomal recessive 18A, 602092 (3)"	602092	10973247
ENSG00000006611	"USH1C, DFNB18A"	605242	"Usher syndrome, type 1C, 276904 (3)"	276904	10973247
ENSG00000006695	COX10	602125	"Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)"	256000	
ENSG00000006695	COX10	602125	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	10767350
ENSG00000006744	ELAC2	605367	"Combined oxidative phosphorylation deficiency 17, 615440 (3)"	615440	23849775
ENSG00000007062	PROM1	604365	"Cone-rod dystrophy 12, 612657 (3)"	612657	18654668
ENSG00000007062	"PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4"	604365	"Macular dystrophy, retinal, 2, 608051 (3)"	608051	18654668
ENSG00000007062	"PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4"	604365	"Retinitis pigmentosa 41, 612095 (3)"	612095	10587575
ENSG00000007062	"PROM1, PROML1, AC133, RP41, CORD12, CD133, MCDR2, STGD4"	604365	"Stargardt disease 4, 603786 (3)"	603786	18654668
ENSG00000007168	"PAFAH1B1, LIS1"	601545	"Lissencephaly 1, 607432 (3)"	607432	11754098
ENSG00000007168	"PAFAH1B1, LIS1"	601545	"Subcortical laminar heterotopia, 607432 (3)"	607432	11754098
ENSG00000007312	CD79B	147245	"Agammaglobulinemia 6, 612692 (3)"	612692	17675462
ENSG00000007314	SCN4A	603967	"Hyperkalemic periodic paralysis, type 2, 170500 (3)"	170500	1659948
ENSG00000007314	SCN4A	603967	"Hypokalemic periodic paralysis, type 2, 613345 (3)"	613345	10599760
ENSG00000007314	"SCN4A, HYPP, NAC1A, HOKPP2, CMS16"	603967	"Myasthenic syndrome, congenital, 16, 614198 (3)"	614198	12766226
ENSG00000007314	"SCN4A, HYPP, NAC1A, HOKPP2, CMS16"	603967	"Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)"	608390	8308722
ENSG00000007314	"SCN4A, HYPP, NAC1A, HOKPP2, CMS16"	603967	"Paramyotonia congenita, 168300 (3)"	168300	1316765
ENSG00000007372	PAX6	607108	"?Coloboma of optic nerve, 120430 (3)"	120430	12721955
ENSG00000007372	PAX6	607108	"?Coloboma, ocular, 120200 (3)"	120200	12721955
ENSG00000007372	PAX6	607108	"?Morning glory disc anomaly, 120430 (3)"	120430	12721955
ENSG00000007372	PAX6	607108	"Aniridia, 106210 (3)"	106210	1334370
ENSG00000007372	PAX6	607108	"Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)"	604229	8162071
ENSG00000007372	PAX6	607108	"Cataract with late-onset corneal dystrophy, 106210 (3)"	106210	1334370
ENSG00000007372	PAX6	607108	"Foveal hypoplasia 1, 136520 (3)"	136520	8640214
ENSG00000007372	"PAX6, AN2, MGDA, FVH1, ASGD5"	607108	"Keratitis, 148190 (3)"	148190	7668281
ENSG00000007372	"PAX6, AN2, MGDA, FVH1, ASGD5"	607108	"Optic nerve hypoplasia, 165550 (3)"	165550	12721955
ENSG00000007933	"FMO3, TMAU"	136132	"Trimethylaminuria, 602079 (3)"	602079	9398858
ENSG00000008056	SYN1	313440	"Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)"	300491	14985377
ENSG00000008086	CDKL5	300203	"Epileptic encephalopathy, early infantile, 2, 300672 (3)"	300672	"15492925, 15499549"
ENSG00000008196	TFAP2B	601601	"Char syndrome, 169100 (3)"	169100	10802654
ENSG00000008196	"TFAP2B, CHAR, PDA2"	601601	"Patent ductus arteriosus 2, 617035 (3)"	617035	18752453
ENSG00000008311	AASS	605113	"Hyperlysinemia, 238700 (3)"	238700	10775527
ENSG00000008441	"NFIX, NF1A, SOTOS2, MRSHSS"	164005	"Marshall-Smith syndrome, 602535 (3)"	602535	20673863
ENSG00000008441	"NFIX, NF1A, SOTOS2, MRSHSS"	164005	"Sotos syndrome 2, 614753 (3)"	614753	20673863
ENSG00000008710	PKD1	601313	"Polycystic kidney disease, adult type I, 173900 (3)"	173900	8004675
ENSG00000009724	MASP2	605102	"MASP2 deficiency, 613791 (3)"	613791	12904520
ENSG00000009765	"IYD, DEHAL1, TDH4"	612025	"Thyroid dyshormonogenesis 4, 274800 (3)"	274800	18434651
ENSG00000009830	"POMT2, MDDGA2, MDDGB2, MDDGC2"	607439	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)"	613150	15894594
ENSG00000009830	"POMT2, MDDGA2, MDDGB2, MDDGC2"	607439	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)"	613156	17634419
ENSG00000009830	"POMT2, MDDGA2, MDDGB2, MDDGC2"	607439	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)"	613158	17878207
ENSG00000010072	"SPRTN, DVC1, C1orf124, RJALS"	616086	"Ruijs-Aalfs syndrome, 616200 (3)"	616200	25261934
ENSG00000010361	"FUZ, NTD"	610622	"Neural tube defects, 182940 (3)"	182940	21840926
ENSG00000010404	"IDS, MPS2, SIDS"	300823	"Mucopolysaccharidosis II, 309900 (3)"	309900	1901826
ENSG00000010610	CD4	186940	"OKT4 epitope deficiency, 613949 (3)"	613949	"1708753, 1961196"
ENSG00000010671	BTK	300300	"Agammaglobulinemia and isolated hormone deficiency, 307200 (3)"	307200	8013627
ENSG00000010671	BTK	300300	"Agammaglobulinemia, X-linked 1, 300755 (3)"	300755	8380905
ENSG00000010704	HFE	613609	"Hemochromatosis, 235200 (3)"	235200	8696333
ENSG00000010818	"HIVEP2, MRD43"	143054	"Mental retardation, autosomal dominant 43, 616977 (3)"	616977	23020937
ENSG00000011143	MKS1	609883	"Bardet-Biedl syndrome 13, 615990 (3)"	615990	18327255
ENSG00000011143	MKS1	609883	"Joubert syndrome 28, 617121 (3)"	617121	24886560
ENSG00000011143	"MKS1, MKS, BBS13, JBTS28"	609883	"Meckel syndrome 1, 249000 (3)"	249000	16415886
ENSG00000011198	ABHD5	604780	"Chanarin-Dorfman syndrome, 275630 (3)"	275630	11590543
ENSG00000011201	ANOS1	300836	"Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), 308700 (3)"	308700	1594017
ENSG00000011275	RNF216	609948	"Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)"	212840	23656588
ENSG00000011295	"TTC19, MC3DN2"	613814	"Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)"	615157	21278747
ENSG00000011376	LARS2	604544	"?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)"	617021	26537577
ENSG00000011376	"LARS2, PRLTS4, HLASA"	604544	"Perrault syndrome 4, 615300 (3)"	615300	23541342
ENSG00000011426	ANLN	616027	"Focal segmental glomerulosclerosis 8, 616032 (3)"	616032	24676636
ENSG00000011465	DCN	125255	"Corneal dystrophy, congenital stromal, 610048 (3)"	610048	15671264
ENSG00000011600	"TYROBP, PLOSL, DAP12"	604142	"Nasu-Hakola disease, 221770 (3)"	221770	10888890
ENSG00000012061	ERCC1	126380	"Cerebrooculofacioskeletal syndrome 4, 610758 (3)"	610758	17273966
ENSG00000012174	MBTPS2	300294	"?Olmsted syndrome, X-linked, 300918 (3)"	300918	22931912
ENSG00000012174	MBTPS2	300294	"IFAP syndrome with or without BRESHECK syndrome, 308205 (3)"	308205	19361614
ENSG00000012174	"MBTPS2, S2P, IFAP, KFSDX, OLMSX"	300294	"Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)"	308800	20672378
ENSG00000012504	NR1H4	603826	"Cholestasis, progressive familial intrahepatic, 5, 617049 (3)"	617049	26888176
ENSG00000012660	"ELOVL5, HELO1, SCA38"	611805	"Spinocerebellar ataxia 38, 615957 (3)"	615957	25065913
ENSG00000013293	"SLC7A14, KIAA1613, RP68"	615720	"Retinitis pigmentosa 68, 615725 (3)"	615725	24670872
ENSG00000013375	PGM3	172100	"Immunodeficiency 23, 615816 (3)"	615816	24589341
ENSG00000013503	"POLR3B, RPC2, C128, HLD8"	614366	"Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)"	614381	22036171
ENSG00000013573	"DDX11, CHLR1, KRG2"	601150	"Warsaw breakage syndrome, 613398 (3)"	613398	20137776
ENSG00000014216	"CAPN1, SPG76"	114220	"Spastic paraplegia 76, autosomal recessive, 616907 (3)"	616907	27153400
ENSG00000014919	COX15	603646	"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)"	615119	12474143
ENSG00000014919	"COX15, CEMCOX2"	603646	"Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)"	256000	15235026
ENSG00000015133	CCDC88C	611204	"?Spinocerebellar ataxia 40, 616053 (3)"	616053	25062847
ENSG00000015133	CCDC88C	611204	"Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)"	236600	21031079
ENSG00000015171	"ZMYND11, BS69, BRAM1, MRD30"	608668	"Mental retardation, autosomal dominant 30, 616083 (3)"	616083	25217958
ENSG00000015285	"WAS, IMD2, THC1, SCNX"	300392	"Neutropenia, severe congenital, X-linked, 300299 (3)"	300299	11242115
ENSG00000015285	"WAS, IMD2, THC1, SCNX"	300392	"Thrombocytopenia, X-linked, 313900 (3)"	313900	7795648
ENSG00000015285	"WAS, IMD2, THC1, SCNX"	300392	"Thrombocytopenia, X-linked, intermittent, 313900 (3)"	313900	7795648
ENSG00000015285	"WAS, IMD2, THC1, SCNX"	300392	"Wiskott-Aldrich syndrome, 301000 (3)"	301000	8069912
ENSG00000015479	MATR3	164015	"Amyotrophic lateral sclerosis 21, 606070 (3)"	606070	19344878
ENSG00000015532	"XYLT2, XT2, SOS"	608125	"Spondyloocular syndrome, 605822 (3)"	605822	26027496
ENSG00000017260	ATP2C1	604384	"Hailey-Hailey disease, 169600 (3)"	169600	10615129
ENSG00000017427	IGF1	147440	"Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 (3)"	608747	8857020
ENSG00000018236	CNTN1	600016	"?Myopathy, congenital, Compton-North, 612540 (3)"	612540	19026398
ENSG00000018510	"AGPS, ADHAPS, RCDP3"	603051	"Rhizomelic chondrodysplasia punctata, type 3, 600121 (3)"	600121	9553082
ENSG00000018625	ATP1A2	182340	"Alternating hemiplegia of childhood, 104290 (3)"	104290	15174025
ENSG00000018625	"ATP1A2, FHM2, MHP2"	182340	"Migraine, familial basilar, 602481 (3)"	602481	12539047
ENSG00000018625	"ATP1A2, FHM2, MHP2"	182340	"Migraine, familial hemiplegic, 2, 602481 (3)"	602481	12539047
ENSG00000019186	CYP24A1	126065	"Hypercalcemia, infantile, 1, 143880 (3)"	143880	21675912
ENSG00000019549	"SNAI2, SLUG, WS2D"	602150	"Piebaldism, 172800 (3)"	172800	12955764
ENSG00000019549	"SNAI2, SLUG, WS2D"	602150	"Waardenburg syndrome, type 2D, 608890 (3)"	608890	12444107
ENSG00000019991	HGF	142409	"Deafness, autosomal recessive 39, 608265 (3)"	608265	19576567
ENSG00000020922	MRE11	600814	"Ataxia-telangiectasia-like disorder, 604391 (3)"	604391	10612394
ENSG00000021574	"SPAST, SPG4"	604277	"Spastic paraplegia 4, autosomal dominant, 182601 (3)"	182601	9302257
ENSG00000021826	CPS1	608307	"Carbamoylphosphate synthetase I deficiency, 237300 (3)"	237300	8486760
ENSG00000021852	C8B	120960	"C8 deficiency, type II, 613789 (3)"	613789	8098723
ENSG00000022267	FHL1	300163	"Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)"	300696	18179888
ENSG00000022267	"FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B"	300163	"Myopathy, X-linked, with postural muscle atrophy, 300696 (3)"	300696	18179888
ENSG00000022267	"FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B"	300163	"Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3)"	300717	18274675
ENSG00000022267	"FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B"	300163	"Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3)"	300718	18274675
ENSG00000022267	"FHL1, SLIM1, XMPMA, KYOT, FHL1A, FHL1B, RBMX1A, RBMX1B"	300163	"Scapuloperoneal myopathy, X-linked dominant, 300695 (3)"	300695	18179901
ENSG00000022355	GABRA1	137160	"Epileptic encephalopathy, early infantile, 19, 615744 (3)"	615744	24623842
ENSG00000023228	NDUFS1	157655	"Mitochondrial complex I deficiency, 252010 (3)"	252010	15824269
ENSG00000023839	ABCC2	601107	"Dubin-Johnson syndrome, 237500 (3)"	237500	9425227
ENSG00000025708	"TYMP, ECGF1, MNGIE, PDECGF, MEDPS1, MTDPS1"	131222	"Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)"	603041	9924029
ENSG00000025796	"SEC63, PCLD2"	608648	"Polycystic liver disease 2, 617004 (3)"	617004	15133510
ENSG00000026025	VIM	193060	"?Cataract 30, pulverulent, 116300 (3)"	116300	19126778
ENSG00000026103	FAS	134637	"Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)"	601859	7540117
ENSG00000026103	FAS	134637	"{Autoimmune lymphoproliferative syndrome}, 601859 (3)"	601859	7540117
ENSG00000026297	"RNASET2, RNASE6PL"	612944	"Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)"	612951	19525954
ENSG00000027001	MIPEP	602241	"Combined oxidative phosphorylation deficiency 31, 617228 (3)"	617228	27799064
ENSG00000027697	IFNGR1	107470	"Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)"	209950	"8960473, 8960475"
ENSG00000027697	IFNGR1	107470	"Immunodeficiency 27B, mycobacteriosis, AD, 615978 (3)"	615978	10192386
ENSG00000027847	B4GALT7	604327	"Ehlers-Danlos syndrome with short stature and limb anomalies, 130070 (3)"	130070	"10506123, 10473568"
ENSG00000029534	"ANK1, SPH1"	612641	"Spherocytosis, type 1, 182900 (3)"	182900	2675425
ENSG00000029993	HMGB3	300193	"?Microphthalmia, syndromic 13, 300915 (3)"	300915	24993872
ENSG00000030304	"MUSK, CMS9, FADS"	601296	"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)"	616325	15496425
ENSG00000030582	GRN	138945	"Aphasia, primary progressive, 607485 (3)"	607485	11220736
ENSG00000030582	GRN	138945	"Ceroid lipofuscinosis, neuronal, 11, 614706 (3)"	614706	20522652
ENSG00000030582	GRN	138945	"Frontotemporal lobar degeneration with ubiquitin-positive inclusions, 607485 (3)"	607485	11220736
ENSG00000031081	ARHGAP31	610911	"Adams-Oliver syndrome 1, 100300 (3)"	100300	21565291
ENSG00000032444	PNPLA6	603197	"?Laurence-Moon syndrome, 245800 (3)"	245800	25480986
ENSG00000032444	PNPLA6	603197	"Boucher-Neuhauser syndrome, 215470 (3)"	215470	24355708
ENSG00000032444	"PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS"	603197	"Oliver-McFarlane syndrome, 275400 (3)"	275400	25480986
ENSG00000032444	"PNPLA6, NTE, SPG39, NTEMND, BNHS, LNMS, OMCS"	603197	"Spastic paraplegia 39, autosomal recessive, 612020 (3)"	612020	18313024
ENSG00000033011	ALG1	605907	"Congenital disorder of glycosylation, type Ik, 608540 (3)"	608540	"14709599, 14973782, 14973778"
ENSG00000034693	PEX3	603164	"?Peroxisome biogenesis disorder 10B, 617370 (3)"	617370	27557811
ENSG00000034693	"PEX3, PBD10A, PBD10B"	603164	"Peroxisome biogenesis disorder 10A (Zellweger), 614882 (3)"	614882	10958759
ENSG00000035403	VCL	193065	"Cardiomyopathy, dilated, 1W, 611407 (3)"	611407	11815424
ENSG00000036257	"CUL3, PHA2E"	603136	"Pseudohypoaldosteronism, type IIE, 614496 (3)"	614496	22266938
ENSG00000036473	OTC	300461	"Ornithine transcarbamylase deficiency, 311250 (3)"	311250	2983225
ENSG00000036828	CASR	601199	"Hyperparathyroidism, neonatal, 239200 (3)"	239200	791666
ENSG00000036828	CASR	601199	"Hypocalcemia, autosomal dominant, 601198 (3)"	601198	7874174
ENSG00000036828	CASR	601199	"Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3)"	601198	12241879
ENSG00000036828	CASR	601199	"Hypocalciuric hypercalcemia, type I, 145980 (3)"	145980	8255296
ENSG00000037280	"FLT4, VEGFR3, PCL, LMPH1A"	136352	"Lymphedema, hereditary, IA, 153100 (3)"	153100	9817924
ENSG00000037474	"NSUN2, TRM4, SAKI, MISU, MRT5"	610916	"Mental retardation, autosomal recessive 5, 611091 (3)"	611091	22541559
ENSG00000038002	AGA	613228	"Aspartylglucosaminuria, 208400 (3)"	208400	"1703489, 1904874"
ENSG00000038295	TLL1	606742	"Atrial septal defect 6, 613087 (3)"	613087	18830233
ENSG00000038382	"TRIO, MRD44"	601893	"Mental retardation, autosomal dominant 44, 617061 (3)"	617061	26721934
ENSG00000038427	"VCAN, CSPG2, WGN, WGN1, ERVR"	118661	"Wagner syndrome 1, 143200 (3)"	143200	16043844
ENSG00000038945	"MSR1, SCARA1, SRA"	153622	"Prostate cancer, hereditary, 176807 (3)"	176807	12244320
ENSG00000039139	DNAH5	603335	"Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)"	608644	11788826
ENSG00000039537	C6	217050	"C6 deficiency, 612446 (3)Combined C6/C7 deficiency (3)"	612446	8690922
ENSG00000039650	PNKP	605610	"Ataxia-oculomotor apraxia 4, 616267 (3)"	616267	25728773
ENSG00000039650	"PNKP, PNK, MCSZ, EIEE10, MCSZ, AOA4"	605610	"Microcephaly, seizures, and developmental delay, 613402 (3)"	613402	20118933
ENSG00000040531	CTNS	606272	"Cystinosis, atypical nephropathic, 219800 (3)"	219800	9537412
ENSG00000040531	CTNS	606272	"Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)"	219900	10556299
ENSG00000040531	CTNS	606272	"Cystinosis, nephropathic, 219800 (3)"	219800	9537412
ENSG00000040531	CTNS	606272	"Cystinosis, ocular nonnephropathic, 219750 (3)"	219750	10625078
ENSG00000041982	TNC	187380	"Deafness, autosomal dominant 56, 615629 (3)"	615629	23936043
ENSG00000042088	TDP1	607198	"Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3)"	607250	12244316
ENSG00000042317	"SPATA7, HSD3, LCA3"	609868	"Leber congenital amaurosis 3, 604232 (3)"	604232	19268277
ENSG00000042317	"SPATA7, HSD3, LCA3"	609868	"Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)"	604232	19268277
ENSG00000042429	"MED17, CRSP6, CRSP77, TRAP80, DRIP80"	603810	"Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)"	613668	20950787
ENSG00000042753	AP2S1	602242	"Hypocalciuric hypercalcemia, type III, 600740 (3)"	600740	23222959
ENSG00000042781	"USH2A, RP39"	608400	"Retinitis pigmentosa 39, 613809 (3)"	613809	12427073
ENSG00000042781	"USH2A, RP39"	608400	"Usher syndrome, type 2A, 276901 (3)"	276901	9624053
ENSG00000042832	"TG, AITD3, TDH3"	188450	"Thyroid dyshormonogenesis 3, 274700 (3)"	274700	1752952
ENSG00000043355	ZIC2	603073	"Holoprosencephaly 5, 609637 (3)"	609637	9771712
ENSG00000044090	CUL7	609577	"3-M syndrome 1, 273750 (3)"	273750	16142236
ENSG00000044115	"CTNNA1, MDPT2"	116805	"Macular dystrophy, patterned, 2, 608970 (3)"	608970	26691986
ENSG00000044446	PHKA2	300798	"Glycogen storage disease, type IXa1, 306000 (3)"	306000	7847371
ENSG00000044446	PHKA2	300798	"Glycogen storage disease, type IXa2, 306000 (3)"	306000	8733134
ENSG00000046604	DSG2	125671	"Arrhythmogenic right ventricular dysplasia 10, 610193 (3)"	610193	16505173
ENSG00000046604	DSG2	125671	"Cardiomyopathy, dilated, 1BB, 612877 (3)"	612877	18678517
ENSG00000046651	OFD1	300170	"?Retinitis pigmentosa 23, 300424 (3)"	300424	22619378
ENSG00000046651	OFD1	300170	"Joubert syndrome 10, 300804 (3)"	300804	19800048
ENSG00000046651	"OFD1, CXorf5, SGBS2, JBTS10, RP23"	300170	"Orofaciodigital syndrome I, 311200 (3)"	311200	11179005
ENSG00000046651	"OFD1, CXorf5, SGBS2, JBTS10, RP23"	300170	"Simpson-Golabi-Behmel syndrome, type 2, 300209 (3)"	300209	16783569
ENSG00000047457	CP	117700	"Cerebellar ataxia, 604290 (3)"	604290	3574673
ENSG00000047457	CP	117700	"Hemosiderosis, systemic, due to aceruloplasminemia, 604290 (3)"	604290	3574673
ENSG00000047457	CP	117700	"[Hypoceruloplasminemia, hereditary], 604290 (3)"	604290	7820540
ENSG00000047578	KIAA0556	616650	"?Joubert syndrome 26, 616784 (3)"	616784	26714646
ENSG00000047579	DTNBP1	607145	"Hermansky-Pudlak syndrome 7, 614076 (3)"	614076	12923531
ENSG00000047597	"XK, MCLDS"	314850	"McLeod syndrome with or without chronic granulomatous disease, 300842 (3)"	300842	8004674
ENSG00000048342	CC2D2A	612013	"Joubert syndrome 9, 612285 (3)"	612285	"18387594, 18950740"
ENSG00000048342	"CC2D2A, KIAA1345, MKS6"	612013	"Meckel syndrome 6, 612284 (3)"	612284	18513680
ENSG00000048392	"RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B"	604712	"Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)"	612075	17486094
ENSG00000048392	"RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B"	604712	"Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)"	612075	17486094
ENSG00000048392	"RRM2B, P53R2, PEOA5, MTDPS8A, MTDPS8B"	604712	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)"	613077	19664747
ENSG00000048545	GUCA1A	600364	"Cone dystrophy-3, 602093 (3)"	602093	9425234
ENSG00000048545	GUCA1A	600364	"Cone-rod dystrophy 14, 602093 (3)"	602093	9425234
ENSG00000049089	COL9A2	120260	"?Stickler syndrome, type V, 614284 (3)"	614284	21671392
ENSG00000049089	COL9A2	120260	"Epiphyseal dysplasia, multiple, 2, 600204 (3)"	600204	8528240
ENSG00000049130	KITLG	184745	"Deafness, autosomal dominant 69, unilateral or asymmetric, 616697 (3)"	616697	26522471
ENSG00000049130	KITLG	184745	"Hyperpigmentation with or without hypopigmentation, 145250 (3)"	145250	19375057
ENSG00000049167	ERCC8	609412	"Cockayne syndrome, type A, 216400 (3)"	216400	7664335
ENSG00000049167	"ERCC8, CKN1, CSA, UVSS2"	609412	"UV-sensitive syndrome 2, 614621 (3)"	614621	19329487
ENSG00000049239	H6PD	138090	"Cortisone reductase deficiency 1, 604931 (3)"	604931	12858176
ENSG00000049246	PER3	603427	"?Advanced sleep phase syndrome, familial, 3, 616882 (3)"	616882	26903630
ENSG00000049540	ELN	130160	"Cutis laxa, AD, 123700 (3)"	123700	16085695
ENSG00000049540	ELN	130160	"Supravalvar aortic stenosis, 185500 (3)"	185500	8132745
ENSG00000049618	ARID1B	614556	"Coffin-Siris syndrome 1, 135900 (3)"	135900	22405089
ENSG00000049759	"NEDD4L, KIAA0439, RSP5, PVNH7"	606384	"Periventricular nodular heterotopia 7, 617201 (3)"	617201	27694961
ENSG00000049768	FOXP3	300292	"Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)"	304790	11120765
ENSG00000049860	HEXB	606873	"Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)"	268800	3017984
ENSG00000050030	"KIAA2022, MRX98"	300524	"Mental retardation, X-linked 98, 300912 (3)"	300912	23615299
ENSG00000050555	LAMC3	604349	"Cortical malformations, occipital, 614115 (3)"	614115	21572413
ENSG00000051180	RAD51	179617	"?Fanconi anemia, complementation group R, 617244 (3)"	617244	26681308
ENSG00000051180	"RAD51A, RECA, MRMV2, FANCR"	179617	"Mirror movements 2, 614508 (3)"	614508	22305526
ENSG00000051523	CYBA	608508	"Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)"	233690	2243141
ENSG00000052802	"MSMO1, SC4MOL, ERG25, MCCPD"	607545	"Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)"	616834	21285510
ENSG00000052850	ALX4	605420	"Frontonasal dysplasia 2, 613451 (3)"	613451	19692347
ENSG00000052850	"ALX4, PFM2, FPP, FND2, CRS5"	605420	"Parietal foramina 2, 609597 (3)"	609597	11106354
ENSG00000053747	LAMA3	600805	"Epidermolysis bullosa, generalized atrophic benign, 226650 (3)"	226650	11810295
ENSG00000053747	"LAMA3, LOCS"	600805	"Laryngoonychocutaneous syndrome, 245660 (3)"	245660	12915477
ENSG00000053918	KCNQ1	607542	"Atrial fibrillation, familial, 3, 607554 (3)"	607554	12522251
ENSG00000053918	KCNQ1	607542	"Jervell and Lange-Nielsen syndrome, 220400 (3)"	220400	9020846
ENSG00000053918	"KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2"	607542	"Long QT syndrome 1, 192500 (3)"	192500	8528244
ENSG00000053918	"KCNQ1, KCNA9, LQT1, KVLQT1, ATFB3, SQT2"	607542	"Short QT syndrome 2, 609621 (3)"	609621	15159330
ENSG00000054282	SDCCAG8	613524	"Bardet-Biedl syndrome 16, 615993 (3)"	615993	20835237
ENSG00000054523	KIF1B	605995	"?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)"	118210	11389829
ENSG00000054523	"KIF1B, CMT2A, CMT2A1, NBLST1"	605995	"Pheochromocytoma, 171300 (3)"	171300	18334619
ENSG00000054598	FOXC1	601090	"Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)"	601631	9620769
ENSG00000054598	FOXC1	601090	"Axenfeld-Rieger syndrome, type 3, 602482 (3)"	602482	9792859
ENSG00000054654	SYNE2	608442	"Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)"	612999	17761684
ENSG00000054983	GALC	606890	"Krabbe disease, 245200 (3)"	245200	8297359
ENSG00000055118	"KCNH2, LQT2, HERG, SQT1"	152427	"Long QT syndrome 2, 613688 (3)"	613688	7889573
ENSG00000055118	"KCNH2, LQT2, HERG, SQT1"	152427	"Short QT syndrome 1, 609620 (3)"	609620	14676148
ENSG00000055208	TAB2	605101	"Congenital heart defects, nonsyndromic, 2, 614980 (3)"	614980	20493459
ENSG00000056972	TRAF3IP2	607043	"?Candidiasis, familial, 8, 615527 (3)"	615527	24120361
ENSG00000057294	PKP2	602861	"Arrhythmogenic right ventricular dysplasia 9, 609040 (3)"	609040	15489853
ENSG00000057593	F7	613878	"Factor VII deficiency, 227500 (3)"	227500	8652821
ENSG00000058262	SEC61A1	609213	"Hyperuricemic nephropathy, familial juvenile, 4, 617056 (3)"	617056	27392076
ENSG00000059377	TBXAS1	274180	"?Thromboxane synthase deficiency, 614158 (1)"	614158	6101498
ENSG00000059377	TBXAS1	274180	"Ghosal hematodiaphyseal syndrome, 231095 (3)"	231095	18264100
ENSG00000059573	ALDH18A1	138250	"Cutis laxa, autosomal dominant 3, 616603 (3)"	616603	26320891
ENSG00000059573	ALDH18A1	138250	"Cutis laxa, autosomal recessive, type IIIA, 219150 (3)"	219150	11092761
ENSG00000059573	"ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3"	138250	"Spastic paraplegia 9A, autosomal dominant, 601162 (3)"	601162	26026163
ENSG00000059573	"ALDH18A1, PYCS, GSAS, ARCL3A, SPG9A, SPG9B, ADCL3"	138250	"Spastic paraplegia 9B, autosomal recessive, 616586 (3)"	616586	26026163
ENSG00000060069	CTDP1	604927	"Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)"	604168	14517542
ENSG00000060237	"WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2"	605232	"Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)"	201300	15060842
ENSG00000060237	"WNK1, PRKWNK1, KDP, PHA2C, HSAN2, HSN2"	605232	"Pseudohypoaldosteronism, type IIC, 614492 (3)"	614492	11498583
ENSG00000060642	PIGV	610274	"Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)"	239300	20802478
ENSG00000060718	COL11A1	120280	"Fibrochondrogenesis 1, 228520 (3)"	228520	21035103
ENSG00000060718	"COL11A1, STL2"	120280	"Marshall syndrome, 154780 (3)"	154780	9529347
ENSG00000060718	"COL11A1, STL2"	120280	"Stickler syndrome, type II, 604841 (3)"	604841	8872475
ENSG00000060762	"BRP44L, MPC1, MPYCD"	614738	"Mitochondrial pyruvate carrier deficiency, 614741 (3)"	614741	22628558
ENSG00000061455	"PRDM6, PRISM, PDA3"	616982	"Patent ductus arteriosus 3, 617039 (3)"	617039	27181681
ENSG00000062038	CDH3	114021	"Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)"	225280	15805154
ENSG00000062038	CDH3	114021	"Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)"	601553	11544476
ENSG00000062598	"ELMO2, CED12, VMPI"	606421	"Vascular malformation, primary intraosseous, 606893 (3)"	606893	27476657
ENSG00000062822	"POLD1, CRCS10, MDPL"	174761	"Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)"	615381	23770608
ENSG00000063854	"HAGH, GLO2"	138760	"[Glyoxalase II deficiency], 614033 (1)"	614033	5485124
ENSG00000064012	CASP8	601763	"?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)"	607271	12353035
ENSG00000064195	DLX3	600525	"Amelogenesis imperfecta, type IV, 104510 (3)"	104510	10466415
ENSG00000064195	"DLX3, TDO, AI4"	600525	"Trichodontoosseous syndrome, 190320 (3)"	190320	9467018
ENSG00000064309	CDON	608707	"Holoprosencephaly 11, 614226 (3)"	614226	21802063
ENSG00000064313	"TAF2, TAF2B, TAFII150, CIF150, MRT40"	604912	"Mental retardation, autosomal recessive 40, 615599 (3)"	615599	21937992
ENSG00000064419	"TNPO3, TRNSR, LGMD1F"	610032	"Muscular dystrophy, limb-girdle, type 1F, 608423 (3)"	608423	"23543484, 23667635"
ENSG00000064490	RFXANK	603200	"MHC class II deficiency, complementation group B, 209920 (3)"	209920	11313409
ENSG00000064601	CTSA	613111	"Galactosialidosis, 256540 (3)"	256540	"Takano, T., Shimmoto, M., Fukuhara, Y., Itoh, K., Kase, R., Takiyama, N., Kobayashi, T., Oshima, A., Sakuraba, H., Suzuki, Y. Galactosialidosis: clinical and molecular analysis of 19 Japanese patients. Brain Dysfunction 4: 271-280, 1991."
ENSG00000064835	"POU1F1, PIT1, CPHD1"	173110	"Pituitary hormone deficiency, combined, 1, 613038 (3)"	613038	1302000
ENSG00000065000	AP3D1	607246	"?Hermansky-Pudlak syndrome 10, 617050 (3)"	617050	26744459
ENSG00000065057	NTHL1	602656	"Familial adenomatous polyposis 3, 616415 (3)"	616415	25938944
ENSG00000065135	GNAI3	139370	"Auriculocondylar syndrome 1, 602483 (3)"	602483	22560091
ENSG00000065154	OAT	613349	"Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)"	258870	3339136
ENSG00000065361	"ERBB3, LCCS2"	190151	"Lethal congenital contractural syndrome 2, 607598 (3)"	607598	17701904
ENSG00000065427	KARS	601421	"?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3)"	613641	20920668
ENSG00000065427	KARS	601421	"Deafness, autosomal recessive 89, 613916 (3)"	613916	23768514
ENSG00000065534	MYLK	600922	"Aortic aneurysm, familial thoracic 7, 613780 (3)"	613780	21055718
ENSG00000065618	COL17A1	113811	"Epidermolysis bullosa, junctional, localisata variant, 226650 (3)"	226650	7550320
ENSG00000065618	COL17A1	113811	"Epithelial recurrent erosion dystrophy, 122400 (3)"	122400	25676728
ENSG00000065883	CDK13	603309	"Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)"	617360	27479907
ENSG00000066084	"DIP2B, KIAA1463"	611379	"Mental retardation, FRA12A type, 136630 (3)"	136630	17236128
ENSG00000066230	SLC9A3	182307	"Diarrhea 8, secretory sodium, congenital, 616868 (3)"	616868	26358773
ENSG00000066279	"ASPM, MCPH5"	605481	"Microcephaly 5, primary, autosomal recessive, 608716 (3)"	608716	12355089
ENSG00000066427	"ATXN3, MJD, SCA3"	607047	"Machado-Joseph disease, 109150 (3)"	109150	7874163
ENSG00000066468	FGFR2	176943	"Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)"	207410	9605588
ENSG00000066468	FGFR2	176943	"Apert syndrome, 101200 (3)"	101200	7719344
ENSG00000066468	FGFR2	176943	"Beare-Stevenson cutis gyrata syndrome, 123790 (3)"	123790	8696350
ENSG00000066468	FGFR2	176943	"Bent bone dysplasia syndrome, 614592 (3)"	614592	22387015
ENSG00000066468	FGFR2	176943	"Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)"	101600	7874169
ENSG00000066468	FGFR2	176943	"Crouzon syndrome, 123500 (3)"	123500	7987400
ENSG00000066468	"FGFR2, BEK, CFD1, JWS, TK14, BBDS"	176943	"LADD syndrome, 149730 (3)"	149730	16501574
ENSG00000066468	"FGFR2, BEK, CFD1, JWS, TK14, BBDS"	176943	"Pfeiffer syndrome, 101600 (3)"	101600	7795583
ENSG00000066468	"FGFR2, BEK, CFD1, JWS, TK14, BBDS"	176943	"Saethre-Chotzen syndrome, 101400 (3)"	101400	9585583
ENSG00000066468	"FGFR2, BEK, CFD1, JWS, TK14, BBDS"	176943	"Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)"	609579	16061565
ENSG00000066629	EML1	602033	"Band heterotopia, 600348 (3)"	600348	24859200
ENSG00000066923	"STAG3, POF8"	608489	"Premature ovarian failure 8, 615723 (3)"	615723	24597867
ENSG00000066926	"FECH, FCE"	612386	"Protoporphyria, erythropoietic, autosomal recessive, 177000 (3)"	177000	1755842
ENSG00000067177	PHKA1	311870	"Muscle glycogenosis, 300559 (3)"	300559	7874115
ENSG00000067182	"TNFRSF1A, TNFR1, TNFAR, FPF, MS5"	191190	"Periodic fever, familial, 142680 (3)"	142680	10199409
ENSG00000067704	IARS2	612801	"?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, 616007 (3)"	616007	25130867
ENSG00000067836	"ROGDI, KTZS"	614574	"Kohlschutter-Tonz syndrome, 226750 (3)"	226750	22424600
ENSG00000067842	ATP2B3	300014	"?Spinocerebellar ataxia, X-linked 1, 302500 (3)"	302500	22912398
ENSG00000067992	PDK3	300906	"?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 (3)"	300905	23297365
ENSG00000068078	FGFR3	134934	"Achondroplasia, 100800 (3)"	100800	"7913883, 8078586"
ENSG00000068078	FGFR3	134934	"CATSHL syndrome, 610474 (3)"	610474	17033969
ENSG00000068078	FGFR3	134934	"Crouzon syndrome with acanthosis nigricans, 612247 (3)"	612247	7493034
ENSG00000068078	FGFR3	134934	"Hypochondroplasia, 146000 (3)"	146000	7670477
ENSG00000068078	"FGFR3, ACH"	134934	"LADD syndrome, 149730 (3)"	149730	16501574
ENSG00000068078	"FGFR3, ACH"	134934	"Muenke syndrome, 602849 (3)"	602849	9042914
ENSG00000068078	"FGFR3, ACH"	134934	"SADDAN, 616482 (3)"	616482	10053006
ENSG00000068078	"FGFR3, ACH"	134934	"Thanatophoric dysplasia, type I, 187600 (3)"	187600	7987400
ENSG00000068078	"FGFR3, ACH"	134934	"Thanatophoric dysplasia, type II, 187601 (3)"	187601	7773297
ENSG00000068120	"COASY, NBIA6"	609855	"Neurodegeneration with brain iron accumulation 6, 615643 (3)"	615643	24360804
ENSG00000068305	MEF2A	600660	"{Coronary artery disease, autosomal dominant, 1}, 608320 (3)"	608320	14645853
ENSG00000068366	"ACSL4, FACL4, ACS4, MRX63"	300157	"Mental retardation, X-linked 63, 300387 (3)"	300387	11889465
ENSG00000068438	"FTSJ1, JM23, SPB1, MRX44, MRX9"	300499	"Mental retardation, X-linked 9/44, 309549 (3)"	309549	15162322
ENSG00000068615	REEP1	609139	"?Neuronopathy, distal hereditary motor, type VB, 614751 (3)"	614751	22703882
ENSG00000068615	"REEP1, C2ORF23, SPG31, HMN5B"	609139	"Spastic paraplegia 31, autosomal dominant, 610250 (3)"	610250	16826527
ENSG00000068654	POLR1A	616404	"Acrofacial dysostosis, Cincinnati type, 616462 (3)"	616462	25913037
ENSG00000068724	TTC7A	609332	"Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)"	243150	23423984
ENSG00000068796	KIF2A	602591	"Cortical dysplasia, complex, with other brain malformations 3, 615411 (3)"	615411	23603762
ENSG00000068831	RASGRP2	605577	"?Bleeding disorder, platelet-type, 18, 615888 (3)"	615888	24958846
ENSG00000068885	"IFT80, KIAA1374, WDR56, SRTD2, ATD2"	611177	"Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)"	611263	17468754
ENSG00000068976	PYGM	608455	"McArdle disease, 232600 (3)"	232600	8316268
ENSG00000069011	PITX1	602149	"Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)"	119800	18950742
ENSG00000069011	"PITX1, PTX1, BFT, POTX, CCF, LBNBG"	602149	"Liebenberg syndrome, 186550 (4)"	186550	23022097
ENSG00000069329	"VPS35, MEM3, PARK17"	601501	"{Parkinson disease 17}, 614203 (3)"	614203	21763482
ENSG00000069431	ABCC9	601439	"Atrial fibrillation, familial, 12, 614050 (3)"	614050	17245405
ENSG00000069431	ABCC9	601439	"Cardiomyopathy, dilated, 1O, 608569 (3)"	608569	15034580
ENSG00000069431	ABCC9	601439	"Hypertrichotic osteochondrodysplasia, 239850 (3)"	239850	22608503
ENSG00000069482	GAL	137035	"?Epilepsy, familial temporal lobe, 8, 616461 (3)"	616461	25691535
ENSG00000069966	GNB5	604447	"Intellectual developmental disorder with cardiac arrhythmia, 617173 (3)"	617173	27523599
ENSG00000069966	"GNB5, GB5, IDDCA, LADCI"	604447	"Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3)"	617182	27523599
ENSG00000069974	RAB27A	603868	"Griscelli syndrome, type 2, 607624 (3)"	607624	10835631
ENSG00000070018	LRP6	603507	"{Coronary artery disease, autosomal dominant, 2}, 610947 (3)"	610947	17332414
ENSG00000070018	"LRP6, ADCAD2, STHAG7"	603507	"Tooth agenesis, selective, 7, 616724 (3)"	616724	26387593
ENSG00000070019	GUCY2C	601330	"Diarrhea 6, 614616 (3)"	614616	22436048
ENSG00000070019	"GUCY2C, GUC2C, DIAR6, MECIL"	601330	"Meconium ileus, 614665 (3)"	614665	22521417
ENSG00000070182	"SPTB, SPH2, EL3, HS2"	182870	"Spherocytosis, type 2, 616649 (3)"	616649	8102379
ENSG00000070193	FGF10	602115	"Aplasia of lacrimal and salivary glands, 180920 (3)"	180920	15654336
ENSG00000070193	FGF10	602115	"LADD syndrome, 149730 (3)"	149730	16630169
ENSG00000070610	"GBA2, KIAA1605, SPG46"	609471	"Spastic paraplegia 46, autosomal recessive, 614409 (3)"	614409	23332916
ENSG00000070614	"NDST1, HSST, MRT46"	600853	"Mental retardation, autosomal recessive 46, 616116 (3)"	616116	25125150
ENSG00000070669	ASNS	108370	"Asparagine synthetase deficiency, 615574 (3)"	615574	24139043
ENSG00000070729	"CNGB1, CNCG3L, CNCG2, RP45"	600724	"Retinitis pigmentosa 45, 613767 (3)"	613767	11379879
ENSG00000070748	"CHAT, CMS6"	118490	"Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)"	254210	11172068
ENSG00000070785	EIF2B3	606273	"Leukoencephalopathy with vanishing white matter, 603896 (3)"	603896	15054402
ENSG00000070814	"TCOF1, MFD1, TCS1"	606847	"Treacher Collins syndrome 1, 154500 (3)"	154500	8875242
ENSG00000070831	"CDC42, TKS"	116952	"Takenouchi-Kosaki syndrome, 616737 (3)"	616737	26386261
ENSG00000070915	SLC12A3	600968	"Gitelman syndrome, 263800 (3)"	263800	8528245
ENSG00000071553	ATP6AP1	300197	"Immunodeficiency 47, 300972 (3)"	300972	27231034
ENSG00000071564	TCF3	147141	"Agammaglobulinemia 8, autosomal dominant, 616941 (3)"	616941	24216514
ENSG00000072042	RDH11	607849	"?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3)"	616108	24916380
ENSG00000072110	ACTN1	102575	"Bleeding disorder, platelet-type, 15, 615193 (3)"	615193	23434115
ENSG00000072121	"ZFYVE26, KIAA0321, SPG15"	612012	"Spastic paraplegia 15, autosomal recessive, 270700 (3)"	270700	18394578
ENSG00000072163	"LIMS2, PINCH2, LGMD2W"	607908	"Muscular dystrophy, limb-girdle, type 2W, 616827 (3)"	616827	25589244
ENSG00000072195	SPEG	615950	"Centronuclear myopathy 5, 615959 (3)"	615959	25087613
ENSG00000072210	"ALDH3A2, ALDH10, SLS, FALDH"	609523	"Sjogren-Larsson syndrome, 270200 (3)"	270200	9027499
ENSG00000072274	TFRC	190010	"Immunodeficiency 46, 616740 (3)"	616740	26642240
ENSG00000072364	AFF4	604417	"CHOPS syndrome, 616368 (3)"	616368	25730767
ENSG00000072501	SMC1A	300040	"Cornelia de Lange syndrome 2, 300590 (3)"	300590	16604071
ENSG00000072506	HSD17B10	300256	"17-beta-hydroxysteroid dehydrogenase X deficiency, 300438 (3)"	300438	12696021
ENSG00000072682	"P4HA2, MYP25"	600608	"Myopia 25, autosomal dominant, 617238 (3)"	617238	25741866
ENSG00000072756	"TRNT1, SIFD, RPEM"	612907	"Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3)"	616959	26494905
ENSG00000072756	"TRNT1, SIFD, RPEM"	612907	"Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)"	616084	25193871
ENSG00000072778	"ACADVL, VLCAD"	609575	"VLCAD deficiency, 201475 (3)"	201475	7668252
ENSG00000072840	EVC	604831	"Weyers acrodental dysostosis, 193530 (3)"	193530	10700184
ENSG00000072864	NDE1	609449	"?Microhydranencephaly, 605013 (3)"	605013	22526350
ENSG00000072864	"NDE1, NUDE, LIS4, MHAC"	609449	"Lissencephaly 4 (with microcephaly), 614019 (3)"	614019	21529752
ENSG00000073111	MCM2	116945	"?Deafness, autosomal dominant 70, 616968 (3)"	616968	26196677
ENSG00000073282	TP63	603273	"ADULT syndrome, 103285 (3)"	103285	11528512
ENSG00000073282	TP63	603273	"Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3)"	604292	10535733
ENSG00000073282	TP63	603273	"Hay-Wells syndrome, 106260 (3)"	106260	10535733
ENSG00000073282	"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8"	603273	"Limb-mammary syndrome, 603543 (3)"	603543	11462173
ENSG00000073282	"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8"	603273	"Orofacial cleft 8, 129400 (3)"	129400	12766194
ENSG00000073282	"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8"	603273	"Rapp-Hodgkin syndrome, 129400 (3)"	129400	12766194
ENSG00000073282	"TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8"	603273	"Split-hand/foot malformation 4, 605289 (3)"	605289	10839977
ENSG00000073464	"CLCN4, MRX49, MRX15"	302910	"Mental retardation, X-linked 49/15, 300114 (3)"	300114	23647072
ENSG00000073578	SDHA	600857	"Cardiomyopathy, dilated, 1GG, 613642 (3)"	613642	20551992
ENSG00000073578	"SDHA, SDH1, SDHF, CMD1GG, PGL5"	600857	"Leigh syndrome, 256000 (3)"	256000	7550341
ENSG00000073578	"SDHA, SDH1, SDHF, CMD1GG, PGL5"	600857	"Mitochondrial respiratory chain complex II deficiency, 252011 (3)"	252011	7550341
ENSG00000073578	"SDHA, SDH1, SDHF, CMD1GG, PGL5"	600857	"Paragangliomas 5, 614165 (3)"	614165	20484225
ENSG00000073584	SMARCE1	603111	"Coffin-Siris syndrome 5, 616938 (3)"	616938	22426308
ENSG00000073734	ABCB11	603201	"Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)"	605479	15300568
ENSG00000073734	ABCB11	603201	"Cholestasis, progressive familial intrahepatic 2, 601847 (3)"	601847	"9806540, 9326328"
ENSG00000073861	TBX21	604895	"Asthma and nasal polyps, 208550 (3)"	208550	9393345
ENSG00000074047	GLI2	165230	"Culler-Jones syndrome, 615849 (3)"	615849	15994174
ENSG00000074047	GLI2	165230	"Holoprosencephaly 9, 610829 (3)"	610829	14581620
ENSG00000074181	NOTCH3	600276	"?Myofibromatosis, infantile 2, 615293 (3)"	615293	23731542
ENSG00000074181	NOTCH3	600276	"Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)"	125310	8878478
ENSG00000074181	"NOTCH3, CADASIL1, CASIL, IMF2, LMNS"	600276	"Lateral meningocele syndrome, 130720 (3)"	130720	25394726
ENSG00000074410	CA12	603263	"Hyperchlorhidrosis, isolated, 143860 (3)"	143860	21035102
ENSG00000074582	BCS1L	603647	"Bjornstad syndrome, 262000 (3)"	262000	17314340
ENSG00000074582	BCS1L	603647	"GRACILE syndrome, 603358 (3)"	603358	11977179
ENSG00000074582	"BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1"	603647	"Leigh syndrome, 256000 (3)"	256000	11528392
ENSG00000074582	"BCS1L, FLNMS, GRACILE, BJS, PTD, MC3DN1"	603647	"Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)"	124000	11528392
ENSG00000074621	"SLC24A1, NCKX1, CSNB1D"	603617	"Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)"	613830	20850105
ENSG00000074695	LMAN1	601567	"Combined factor V and VIII deficiency, 227300 (3)"	227300	9546392
ENSG00000074803	SLC12A1	600839	"Bartter syndrome, type 1, 601678 (3)"	601678	8640224
ENSG00000075043	KCNQ2	602235	"Epileptic encephalopathy, early infantile, 7, 613720 (3)"	613720	12742592
ENSG00000075239	ACAT1	607809	"Alpha-methylacetoacetic aciduria, 203750 (3)"	203750	1715688
ENSG00000075415	"SLC25A3, PHC"	600370	"Mitochondrial phosphate carrier deficiency, 610773 (3)"	610773	17273968
ENSG00000075624	ACTB	102630	"?Dystonia, juvenile-onset, 607371 (3)"	607371	16685646
ENSG00000075624	ACTB	102630	"Baraitser-Winter syndrome 1, 243310 (3)"	243310	22366783
ENSG00000075643	"MOCOS, MCS, XAN2"	613274	"Xanthinuria, type II, 603592 (3)"	603592	11302742
ENSG00000075702	"WDR62, C19orf14, MCPH2"	613583	"Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)"	604317	20890279
ENSG00000075785	RAB7A	602298	"Charcot-Marie-Tooth disease, type 2B, 600882 (3)"	600882	12545426
ENSG00000075891	PAX2	167409	"Glomerulosclerosis, focal segmental, 7, 616002 (3)"	616002	24676634
ENSG00000075891	"PAX2, PAPRS, FSGS7"	167409	"Papillorenal syndrome, 120330 (3)"	120330	7795640
ENSG00000076242	"MLH1, COCA2, HNPCC2"	120436	"Mismatch repair cancer syndrome, 276300 (3)"	276300	17440981
ENSG00000076242	"MLH1, COCA2, HNPCC2"	120436	"Muir-Torre syndrome, 158320 (3)"	158320	8751876
ENSG00000076248	UNG	191525	"Immunodeficiency with hyper IgM, type 5, 608106 (3)"	608106	12958596
ENSG00000076351	SLC46A1	611672	"Folate malabsorption, hereditary, 229050 (3)"	229050	17129779
ENSG00000076685	"NT5C2, NT5B, PNT5, SPG45"	600417	"Spastic paraplegia 45, autosomal recessive, 613162 (3)"	613162	24482476
ENSG00000076944	STXBP2	601717	"Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)"	613101	19804848
ENSG00000077092	"RARB, HAP, MCOPS12"	180220	"Microphthalmia, syndromic 12, 615524 (3)"	615524	24075189
ENSG00000077150	NFKB2	164012	"Immunodeficiency, common variable, 10, 615577 (3)"	615577	24140114
ENSG00000077152	UBE2T	610538	"Fanconi anemia, complementation group T, 616435 (3)"	616435	26046368
ENSG00000077264	"PAK3, MRX30, MRX47"	300142	"Mental retardation, X-linked 30/47, 300558 (3)"	300558	9731525
ENSG00000077279	"DCX, DBCN, LISX"	300121	"Lissencephaly, X-linked, 300067 (3)"	300067	9489699
ENSG00000077279	"DCX, DBCN, LISX"	300121	"Subcortical laminal heteropia, X-linked, 300067 (3)"	300067	9489699
ENSG00000077498	TYR	606933	"Albinism, oculocutaneous, type IA, 203100 (3)"	203100	2511845
ENSG00000077498	TYR	606933	"Albinism, oculocutaneous, type IB, 606952 (3)"	606952	6770679
ENSG00000077498	"TYR, SHEP3, CMM8, OCA1A, ATN"	606933	"Waardenburg syndrome/albinism, digenic, 103470 (3)"	103470	9158138
ENSG00000077522	ACTN2	102573	"Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)"	612158	14567970
ENSG00000077721	"UBE2A, RAD6A, MRXSN, MRXS30"	312180	"Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)"	300860	16909393
ENSG00000077782	FGFR1	136350	"Encephalocraniocutaneous lipomatosis, 613001 (3)"	613001	26942290
ENSG00000077782	FGFR1	136350	"Hartsfield syndrome, 615465 (3)"	615465	23812909
ENSG00000077782	FGFR1	136350	"Hypogonadotropic hypogonadism 2 with or without anosmia, 147950 (3)"	147950	11297579
ENSG00000077782	"FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL"	136350	"Osteoglophonic dysplasia, 166250 (3)"	166250	15625620
ENSG00000077782	"FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL"	136350	"Pfeiffer syndrome, 101600 (3)"	101600	7874169
ENSG00000077782	"FGFR1, FLT2, OGD, KAL2, HH2, HRTFDS, ECCL"	136350	"Trigonocephaly 1, 190440 (3)"	190440	11173846
ENSG00000077942	FBLN1	135820	"Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)"	608180	11836357
ENSG00000077943	"ITGA8, RHDA1"	604063	"Renal hypodysplasia/aplasia 1, 191830 (3)"	191830	24439109
ENSG00000078070	MCCC1	609010	"3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 (3)"	210200	11181649
ENSG00000078369	"GNB1, MRD42"	139380	"Mental retardation, autosomal dominant 42, 616973 (3)"	616973	27108799
ENSG00000078401	EDN1	131240	"Auriculocondylar syndrome 3, 615706 (3)"	615706	23315542
ENSG00000078401	"EDN1, ARCND3, QME, HDLCQ7"	131240	"Question mark ears, isolated, 612798 (3)"	612798	23315542
ENSG00000078579	FGF20	605558	"?Renal hypodysplasia/aplasia 2, 615721 (3)"	615721	22698282
ENSG00000078747	ITCH	606409	"Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)"	613385	20170897
ENSG00000079215	SLC1A3	600111	"Episodic ataxia, type 6, 612656 (3)"	612656	16116111
ENSG00000079335	CDC14A	603504	"Deafness, autosomal recessive 105, 616958 (3)"	616958	27259055
ENSG00000079435	"LIPE, LHS, FPLD6"	151750	"Lipodystrophy, familial partial, type 6, 615980 (3)"	615980	24848981
ENSG00000079482	"OPHN1, MRX60"	300127	"Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)"	300486	9582072
ENSG00000079616	"KIF22, KNSL4, KID, OBP, SEMDJL2"	603213	"Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)"	603546	22152677
ENSG00000079739	PGM1	171900	"Congenital disorder of glycosylation, type It, 614921 (3)"	614921	19625727
ENSG00000079805	DNM2	602378	"Charcot-Marie-Tooth disease, axonal, type 2M, 606482 (3)"	606482	18560793
ENSG00000079805	DNM2	602378	"Charcot-Marie-Tooth disease, dominant intermediate B, 606482 (3)"	606482	15731758
ENSG00000079805	"DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5"	602378	"Lethal congenital contracture syndrome 5, 615368 (3)"	615368	23092955
ENSG00000079805	"DNM2, CMTDIB, CMTDI1, CMT2M, LCCS5"	602378	"Myopathy, centronuclear, 160150 (3)"	160150	16227997
ENSG00000079841	RIMS1	606629	"Cone-rod dystrophy 7, 603649 (3)"	603649	12659814
ENSG00000080493	"SLC4A4, NBC1, KNBC"	603345	"Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)"	604278	10545938
ENSG00000080503	"SMARCA2, SNF2L2, NCBRS"	600014	"Nicolaides-Baraitser syndrome, 601358 (3)"	601358	22366787
ENSG00000080561	MID2	300204	"?Mental retardation, X-linked 101, 300928 (3)"	300928	24115387
ENSG00000080572	PIH1D3	300933	"Ciliary dyskinesia, primary, 36, X-linked, 300991 (3)"	300991	28041644
ENSG00000080603	SRCAP	611421	"Floating-Harbor syndrome, 136140 (3)"	136140	22265015
ENSG00000080815	PSEN1	104311	"Acne inversa, familial, 3, 613737 (3)"	613737	20929727
ENSG00000080815	PSEN1	104311	"Alzheimer disease, type 3, 607822 (3)"	607822	7596406
ENSG00000080815	PSEN1	104311	"Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822 (3)"	607822	7596406
ENSG00000080815	PSEN1	104311	"Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822 (3)"	607822	7596406
ENSG00000080815	PSEN1	104311	"Cardiomyopathy, dilated, 1U, 613694 (3)"	613694	17186461
ENSG00000080815	PSEN1	104311	"Dementia, frontotemporal, 600274 (3)"	600274	9641683
ENSG00000080815	"PSEN1, AD3"	104311	"Pick disease, 172700 (3)"	172700	15122701
ENSG00000080819	CPOX	612732	"Coproporphyria, 121300 (3)Harderoporphyria, 121300 (3)"	121300	8012360
ENSG00000081014	"AP4E1, SPG51, CPSQ4, STUT1"	607244	"Spastic paraplegia 51, autosomal recessive, 613744 (3)"	613744	20972249
ENSG00000081014	"AP4E1, SPG51, CPSQ4, STUT1"	607244	"Stuttering, familial persistent, 1, 184450 (3)"	184450	26544806
ENSG00000081051	AFP	104150	"Alpha-fetoprotein deficiency, 615969 (3)"	615969	15280901
ENSG00000081051	HPAFP	104150	"[Hereditary persistence of alpha-fetoprotein], 615970 (3)"	615970	7684942
ENSG00000081087	"OSTM1, GL, OPTB5"	607649	"Osteopetrosis, autosomal recessive 5, 259720 (3)"	259720	12627228
ENSG00000081148	"IMPG2, IPM200, RP56, VMD5"	607056	"Macular dystrophy, vitelliform, 5, 616152 (3)"	616152	25085631
ENSG00000081148	"IMPG2, IPM200, RP56, VMD5"	607056	"Retinitis pigmentosa 56, 613581 (3)"	613581	20673862
ENSG00000081189	MEF2C	600662	"Chromosome 5q14.3 deletion syndrome, 613443 (4)"	613443	19592390
ENSG00000081189	"MEF2C, C5DELq14.3, DEL5q14.3"	600662	"Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443 (3)"	613443	19592390
ENSG00000081248	CACNA1S	114208	"Hypokalemic periodic paralysis, type 1, 170400 (3)"	170400	8004673
ENSG00000081277	PKP1	601975	"Ectodermal dysplasia/skin fragility syndrome, 604536 (3)"	604536	9326952
ENSG00000081307	UBA5	610552	"?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3)"	617133	26872069
ENSG00000081307	UBA5	610552	"Epileptic encephalopathy, early infantile, 44, 617132 (3)"	617132	27545674
ENSG00000081479	LRP2	600073	"Donnai-Barrow syndrome, 222448 (3)"	222448	17632512
ENSG00000081923	ATP8B1	602397	"Cholestasis, benign recurrent intrahepatic, 243300 (3)"	243300	9500542
ENSG00000081923	ATP8B1	602397	"Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)"	147480	15888793
ENSG00000081923	ATP8B1	602397	"Cholestasis, progressive familial intrahepatic 1, 211600 (3)"	211600	9500542
ENSG00000082175	PGR	607311	"?Progesterone resistance, 264080 (2)"	264080	217888
ENSG00000082458	"DLG3, NEDLG, SAP102, MRX90"	300189	"Mental retardation, X-linked 90, 300850 (3)"	300850	15185169
ENSG00000083093	PALB2	610355	"Fanconi anemia, complementation group N, 610832 (3)"	610832	"17200671, 17200672"
ENSG00000083123	"BCKDHB, E1B"	248611	"Maple syrup urine disease, type Ib, 248600 (3)"	248600	2022752
ENSG00000083168	"KAT6A, MYST3, MOZ, ZNF220, MRD32"	601408	"Mental retardation, autosomal dominant 32, 616268 (3)"	616268	25728775
ENSG00000083307	GRHL2	608576	"Deafness, autosomal dominant 28, 608641 (3)"	608641	12393799
ENSG00000083307	GRHL2	608576	"Ectodermal dysplasia/short stature syndrome, 616029 (3)"	616029	25152456
ENSG00000083444	PLOD1	153454	"Ehlers-Danlos syndrome, type VI, 225400 (3)"	225400	8449506
ENSG00000083720	"OXCT1, OXCT, SCOT"	601424	"Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)"	245050	8751852
ENSG00000083799	CYLD	605018	"Brooke-Spiegler syndrome, 605041 (3)"	605041	12190880
ENSG00000083799	CYLD	605018	"Cylindromatosis, familial, 132700 (3)"	132700	10835629
ENSG00000083799	"CYLD, CDMT, EAC, MFT1, KIAA0849, BRSS"	605018	"Trichoepithelioma, multiple familial, 1, 601606 (3)"	601606	14632188
ENSG00000083937	CHMP2B	609512	"Amyotrophic lateral sclerosis 17, 614696 (3)"	614696	16807408
ENSG00000083937	CHMP2B	609512	"Dementia, familial, nonspecific, 600795 (3)"	600795	16041373
ENSG00000084073	"ZMPSTE24, FACE1, STE24, MADB"	606480	"Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)"	608612	12913070
ENSG00000084073	"ZMPSTE24, FACE1, STE24, MADB"	606480	"Restrictive dermopathy, lethal, 275210 (3)"	275210	15317753
ENSG00000084110	HAL	609457	"[Histidinemia], 235800 (3)"	235800	15806399
ENSG00000084674	APOB	107730	"Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)"	144010	4368448
ENSG00000084693	"AGBL5, CCP5, RP75"	615900	"Retinitis pigmentosa 75, 617023 (3)"	617023	26720455
ENSG00000084754	HADHA	600890	"Fatty liver, acute, of pregnancy, 609016 (3)"	609016	7811722
ENSG00000084754	HADHA	600890	"HELLP syndrome, maternal, of pregnancy, 609016 (3)"	609016	7846063
ENSG00000084754	"HADHA, MTPA"	600890	"LCHAD deficiency, 609016 (3)"	609016	7811722
ENSG00000084754	"HADHA, MTPA"	600890	"Trifunctional protein deficiency, 609015 (3)"	609015	7738175
ENSG00000084774	CAD	114010	"Epileptic encephalopathy, early infantile, 50, 616457 (3)"	616457	25678555
ENSG00000085063	CD59	107271	"Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3)"	612300	1382994
ENSG00000085224	ATRX	300032	"Alpha-thalassemia/mental retardation syndrome, 301040 (3)"	301040	7697714
ENSG00000085224	"ATRX, XH2, XNP, SHS, SFM1, MRXHF1"	300032	"Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)"	309580	8630485
ENSG00000085276	"MECOM, EVI1, RUSAT2"	165215	"Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738 (3)"	616738	26581901
ENSG00000085382	"HACE1, KIAA1320, SPPRS"	610876	"Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3)"	616756	26424145
ENSG00000085563	"ABCB1, PGY1, MDR1, IBD13, CLCs"	171050	"{Inflammatory bowel disease 13}, 612244 (3)"	612244	14610718
ENSG00000085788	"DDHD2, KIAA0725, SPG54"	615003	"Spastic paraplegia 54, autosomal recessive, 615033 (3)"	615033	23176823
ENSG00000085840	"ORC1, ORC1L"	601902	"Meier-Gorlin syndrome 1, 224690 (3)"	224690	21358633
ENSG00000085978	"ATG16L1, APG16L, IBD10"	610767	"{Inflammatory bowel disease (Crohn disease) 10}, 611081 (3)"	611081	18852889
ENSG00000085998	"POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76"	606822	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)"	253280	11709191
ENSG00000085998	"POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76"	606822	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)"	613151	19067344
ENSG00000085998	"POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76"	606822	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)"	613157	18195152
ENSG00000085998	"POMGNT1, MEB, MDDGA3, MDDGB3, MDDGC3, RP76"	606822	"Retinitis pigmentosa 76, 617123 (3)"	617123	26908613
ENSG00000086062	B4GALT1	137060	"Congenital disorder of glycosylation, type IId, 607091 (3)"	607091	11901181
ENSG00000086288	NME8	607421	"Ciliary dyskinesia, primary, 6, 610852 (3)"	610852	17360648
ENSG00000086300	"SNX10, OPTB8"	614780	"Osteopetrosis, autosomal recessive 8, 615085 (3)"	615085	22499339
ENSG00000086758	"HUWE1, UREB1, KIAA0312, LASU1"	300697	"Mental retardation, X-linked syndromic, Turner type, 300706 (3)"	300706	18252223
ENSG00000086848	ALG9	606941	"Congenital disorder of glycosylation, type Il, 608776 (3)"	608776	15148656
ENSG00000086848	ALG9	606941	"Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)"	263210	25966638
ENSG00000087053	MTMR2	603557	"Charcot-Marie-Tooth disease, type 4B1, 601382 (3)"	601382	10802647
ENSG00000087086	FTL	134790	"Hyperferritinemia-cataract syndrome, 600886 (3)"	600886	7493028
ENSG00000087086	"FTL, NBIA3, LFTD"	134790	"L-ferritin deficiency, dominant and recessive, 615604 (3)"	615604	15173247
ENSG00000087086	"FTL, NBIA3, LFTD"	134790	"Neurodegeneration with brain iron accumulation 3, 606159 (3)"	606159	11438811
ENSG00000087116	ADAMTS2	604539	"Ehlers-Danlos syndrome, type VIIC, 225410 (3)"	225410	10417273
ENSG00000087237	CETP	118470	"Hyperalphalipoproteinemia, 143470 (3)"	143470	2215607
ENSG00000087245	"MMP2, CLG4A, MONA"	120360	"Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)"	259600	11431697
ENSG00000087258	GNAO1	139311	"Epileptic encephalopathy, early infantile, 17, 615473 (3)"	615473	23993195
ENSG00000087266	SH3BP2	602104	"Cherubism, 118400 (3)"	118400	11381256
ENSG00000087299	"L2HGDH, C14orf160, L2HGA"	609584	"L-2-hydroxyglutaric aciduria, 236792 (3)"	236792	15385440
ENSG00000087460	GNAS	139320	"ACTH-independent macronodular adrenal hyperplasia, 219080 (3)"	219080	12727968
ENSG00000087460	"GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C"	139320	"Osseous heteroplasia, progressive, 166350 (3)"	166350	11784876
ENSG00000087460	"GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C"	139320	"Pseudohypoparathyroidism Ia, 103580 (3)"	103580	2829196
ENSG00000087460	"GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C"	139320	"Pseudohypoparathyroidism Ib, 603233 (3)"	603233	11067869
ENSG00000087460	"GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C"	139320	"Pseudohypoparathyroidism Ic, 612462 (3)"	612462	11788646
ENSG00000087460	"GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C"	139320	"Pseudopseudohypoparathyroidism, 612463 (3)"	612463	2122458
ENSG00000087470	DNM1L	603850	"Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)"	614388	17460227
ENSG00000087494	PTHLH	168470	"Brachydactyly, type E2, 613382 (3)"	613382	20170896
ENSG00000088035	ALG6	604566	"Congenital disorder of glycosylation, type Ic, 603147 (3)"	603147	10359825
ENSG00000088053	GP6	605546	"Bleeding disorder, platelet-type, 11, 614201 (3)"	614201	19549989
ENSG00000088256	GNA11	139313	"Hypocalcemia, autosomal dominant 2, 615361 (3)"	615361	23802516
ENSG00000088256	GNA11	139313	"Hypocalciuric hypercalcemia, type II, 145981 (3)"	145981	23802516
ENSG00000088305	DNMT3B	602900	"Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)"	242860	10647011
ENSG00000088367	EPB41L1	602879	"?Mental retardation, autosomal dominant 11, 614257 (3)"	614257	21376300
ENSG00000088451	TGDS	616146	"Catel-Manzke syndrome, 616145 (3)"	616145	25480037
ENSG00000088682	COQ9	612837	"Coenzyme Q10 deficiency, primary, 5, 614654 (3)"	614654	19375058
ENSG00000088836	SLC4A11	610206	"Corneal endothelial dystrophy and perceptive deafness, 217400 (3)"	217400	17220209
ENSG00000088836	SLC4A11	610206	"Corneal endothelial dystrophy, autosomal recessive, 217700 (3)"	217700	16767101
ENSG00000088926	F11	264900	"Factor XI deficiency, autosomal dominant, 612416 (3)"	612416	2813350
ENSG00000088926	F11	264900	"Factor XI deficiency, autosomal recessive, 612416 (3)"	612416	2813350
ENSG00000088970	"KIZ, KIZUNA, C20orf19, RP69"	615757	"Retinitis pigmentosa 69, 615780 (3)"	615780	24680887
ENSG00000089225	TBX5	601620	"Holt-Oram syndrome, 142900 (3)"	142900	"8988165, 8988164"
ENSG00000089280	FUS	137070	"Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, 608030 (3)"	608030	19251627
ENSG00000089280	"FUS, TLS, ALS6, ETM4"	137070	"Tremor, hereditary essential, 4, 614782 (3)"	614782	22863194
ENSG00000089289	IGBP1	300139	"Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, 300472 (3)"	300472	14556245
ENSG00000089597	"GANAB, PKD3"	104160	"Polycyctic kidney disease 3, 600666 (3)"	600666	27259053
ENSG00000089818	NECAP1	611623	"?Epileptic encephalopathy, early infantile, 21, 615833 (3)"	615833	24399846
ENSG00000090006	LTBP4	604710	"Cutis laxa, autosomal recessive, type IC, 613177 (3)"	613177	19836010
ENSG00000090020	SLC9A1	107310	"?Lichtenstein-Knorr syndrome, 616291 (3)"	616291	25205112
ENSG00000090054	"SPTLC1, LBC1, SPT1, HSN1, HSAN"	605712	"Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3)"	162400	11242114
ENSG00000090382	LYZ	153450	"Amyloidosis, renal, 105200 (3)"	105200	8464497
ENSG00000090402	SI	609845	"Sucrase-isomaltase deficiency, congenital, 222900 (3)"	222900	8609217
ENSG00000090487	"ACP33, MAST, SPG21"	608181	"Mast syndrome, 248900 (3)"	248900	14564668
ENSG00000090530	"P3H2, LEPREL1, MCVD"	610341	"Myopia, high, with cataract and vitreoretinal degeneration, 614292 (3)"	614292	21885030
ENSG00000090534	"THPO, MGDF, MPLLG, TPO, THCYT1"	600044	"Thrombocythemia 1, 187950 (3)"	187950	9425899
ENSG00000090581	GNPTAG	607838	"Mucolipidosis III gamma, 252605 (3)"	252605	10712439
ENSG00000090674	"MCOLN1, ML4"	605248	"Mucolipidosis IV, 252650 (3)"	252650	1097326
ENSG00000090776	EFNB1	300035	"Craniofrontonasal dysplasia, 304110 (3)"	304110	15124102
ENSG00000090861	AARS	601065	"Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)"	613287	20045102
ENSG00000090861	AARS	601065	"Epileptic encephalopathy, early infantile, 29, 616339 (3)"	616339	25817015
ENSG00000090889	KIF4A	300521	"?Mental retardation, X-linked 100, 300923 (3)"	300923	24812067
ENSG00000090924	"PLEKHG2, CLG, LDAMD"	611893	"Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)"	616763	26573021
ENSG00000090932	"DLL3, SCDO1"	602768	"Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)"	277300	10364530
ENSG00000091010	POU4F3	602460	"Deafness, autosomal dominant 15, 602459 (3)"	602459	9506947
ENSG00000091106	NLRC4	606831	"?Familial cold autoinflammatory syndrome 4, 616115 (3)"	616115	25385754
ENSG00000091106	NLRC4	606831	"Autoinflammation with infantile enterocolitis, 616050 (3)"	616050	"25217959, 25217960"
ENSG00000091136	"LAMB1, LIS5"	150240	"Lissencephaly 5, 615191 (3)"	615191	23472759
ENSG00000091137	SLC26A4	605646	"Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3)"	600791	9500541
ENSG00000091137	"SLC26A4, PDS, DFNB4, EVA, TDH2B"	605646	"Pendred syndrome, 274600 (3)"	274600	9398842
ENSG00000091138	SLC26A3	126650	"Diarrhea 1, secretory chloride, congenital, 214700 (3)"	214700	11524734
ENSG00000091140	DLD	238331	"Dihydrolipoamide dehydrogenase deficiency, 246900 (3)"	246900	8506365
ENSG00000091262	ABCC6	603234	"Arterial calcification, generalized, of infancy, 2, 614473 (3)"	614473	22209248
ENSG00000091262	"ABCC6, ARA, ABC34, MLP1, PXE, GACI2"	603234	"Pseudoxanthoma elasticum, 264800 (3)"	264800	"10811882, 10835643, 10835642"
ENSG00000091262	"ABCC6, ARA, ABC34, MLP1, PXE, GACI2"	603234	"Pseudoxanthoma elasticum, forme fruste, 177850 (3)"	177850	"10811882, 10835643, 10835642"
ENSG00000091409	ITGA6	147556	"Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)"	226730	7545057
ENSG00000091436	"ZAK, MLTK, MRK, SFMMP"	609479	"Split-foot malformation with mesoaxial polydactyly, 616890 (3)"	616890	26755636
ENSG00000091482	SMPX	300226	"Deafness, X-linked 4, 300066 (3)"	300066	21549336
ENSG00000091483	FH	136850	"Fumarase deficiency, 606812 (3)"	606812	8200987
ENSG00000091483	"FH, HLRCC, MCUL1, FMRD"	136850	"Leiomyomatosis and renal cell cancer, 150800 (3)"	150800	11865300
ENSG00000091513	TF	190000	"Atransferrinemia, 209300 (3)"	209300	11110675
ENSG00000091536	MYO15A	602666	"Deafness, autosomal recessive 3, 600316 (3)"	600316	17851452
ENSG00000091592	NLRP1	606636	"Autoinflammation with arthritis and dyskeratosis, 617388 (3)"	617388	27965258
ENSG00000091592	"NLRP1, NALP1, KIAA0926, DEFCAP, CARD7, SLEV1, VAMAS1, MSPC, AIADK"	606636	"Palmoplantar carcinoma, multiple self-healing, 615255 (3)"	615225	23349227
ENSG00000091622	PITPNM3	608921	"Cone-rod dystrophy 5, 600977 (3)"	600977	17377520
ENSG00000091651	"ORC6, ORC6L"	607213	"Meier-Gorlin syndrome 3, 613803 (3)"	613803	21358632
ENSG00000091831	ESR1	133430	"Estrogen resistance, 615363 (3)"	615363	8090165
ENSG00000092054	MYH7	160760	"Cardiomyopathy, dilated, 1S, 613426 (3)"	613426	11106718
ENSG00000092054	"MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD"	160760	"Laing distal myopathy, 160500 (3)"	160500	15322983
ENSG00000092054	"MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD"	160760	"Left ventricular noncompaction 5, 613426 (3)"	613426	11106718
ENSG00000092054	"MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD"	160760	"Myopathy, myosin storage, autosomal dominant, 608358 (3)"	608358	14520662
ENSG00000092054	"MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD"	160760	"Myopathy, myosin storage, autosomal recessive, 255160 (3)"	255160	17372140
ENSG00000092054	"MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD"	160760	"Scapuloperoneal syndrome, myopathic type, 181430 (3)"	181430	17336526
ENSG00000092067	"CEBPE, CRP1"	600749	"Specific granule deficiency, 245480 (3)"	245480	10359588
ENSG00000092200	RPGRIP1	605446	"Cone-rod dystrophy 13, 608194 (3)"	608194	12920076
ENSG00000092200	"RPGRIP1, LCA6, CORD13"	605446	"Leber congenital amaurosis 6, 613826 (3)"	613826	11283794
ENSG00000092295	TGM1	190195	"Ichthyosis, congenital, autosomal recessive 1, 242300 (3)"	242300	7824952
ENSG00000092330	TINF2	604319	"Dyskeratosis congenita, autosomal dominant 3, 613990 (3)"	613990	18252230
ENSG00000092330	"TINF2, TIN2, DKCA3"	604319	"Revesz syndrome, 268130 (3)"	268130	18252230
ENSG00000092529	"CAPN3, CANP3"	114240	"Muscular dystrophy, limb-girdle, type 2A, 253600 (3)"	253600	7720071
ENSG00000092607	TBX15	604127	"Cousin syndrome, 260660 (3)"	260660	19068278
ENSG00000092621	"PHGDH, NLS1, PHGDHD"	606879	"Neu-Laxova syndrome 1, 256520 (3)"	256520	24836451
ENSG00000092621	"PHGDH, NLS1, PHGDHD"	606879	"Phosphoglycerate dehydrogenase deficiency, 601815 (3)"	601815	11055895
ENSG00000092758	COL9A3	120270	"Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3)"	600969	10090888
ENSG00000092929	UNC13D	608897	"Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)"	608898	14622600
ENSG00000092969	"TGFB2, LDS4"	190220	"Loeys-Dietz syndrome 4, 614816 (3)"	614816	22772368
ENSG00000093009	"CDC45L, CDC45L2, MGORS7"	603465	"Meier-Gorlin syndrome 7, 617063 (3)"	617063	27374770
ENSG00000093072	ADA2	607575	"?Sneddon syndrome, 182410 (3)"	182410	25075847
ENSG00000093072	"CECR1, PAN, SNEDS"	607575	"Polyarteritis nodosa, childhood-onset, 615688 (3)"	615688	24552284
ENSG00000094631	HDAC6	300272	"?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, 300863 (3)"	300863	20181727
ENSG00000094804	CDC6	602627	"?Meier-Gorlin syndrome 5, 613805 (3)"	613805	21358632
ENSG00000094914	AAAS	605378	"Achalasia-addisonianism-alacrimia syndrome, 231550 (3)"	231550	8968764
ENSG00000095002	"MSH2, COCA1, FCC1, HNPCC1"	609309	"Mismatch repair cancer syndrome, 276300 (3)"	276300	11809679
ENSG00000095002	"MSH2, COCA1, FCC1, HNPCC1"	609309	"Muir-Torre syndrome, 158320 (3)"	158320	8931714
ENSG00000095015	MAP3K1	600982	"46XY sex reversal 6, 613762 (3)"	613762	21129722
ENSG00000095139	"ARCN1, SRMMD"	600820	"Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)"	617164	27476655
ENSG00000095209	"TMEM38B, TRICB, OI14"	611236	"Osteogenesis imperfecta, type XIV, 615066 (3)"	615066	23054245
ENSG00000095380	"NANS, SAS, SEMDCG"	605202	"Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)"	610442	27213289
ENSG00000095397	WHRN	607928	"Deafness, autosomal recessive 31, 607084 (3)"	607084	12833159
ENSG00000095397	"WHRN, CIP98, KIAA1526, DFNB31, USH2D"	607928	"Usher syndrome, type 2D, 611383 (3)"	611383	17171570
ENSG00000095464	PDE6C	600827	"Cone dystrophy 4, 613093 (3)"	613093	19615668
ENSG00000095485	"CWF19L1, C19L1, SCAR17"	616120	"Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)"	616127	25361784
ENSG00000095585	BLNK	604515	"Agammaglobulinemia 4, 613502 (3)"	613502	10583958
ENSG00000095777	MYO3A	606808	"Deafness, autosomal recessive 30, 607101 (3)"	607101	12032315
ENSG00000095787	WAC	615049	"Desanto-Shinawi syndrome, 616708 (3)"	616708	26264232
ENSG00000095970	TREM2	605086	"Nasu-Hakola disease, 221770 (3)"	221770	12080485
ENSG00000096696	DSP	125647	"Arrhythmogenic right ventricular dysplasia 8, 607450 (3)"	607450	12373648
ENSG00000096696	DSP	125647	"Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)"	605676	11063735
ENSG00000096696	DSP	125647	"Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)"	615821	16628197
ENSG00000096696	DSP	125647	"Epidermolysis bullosa, lethal acantholytic, 609638 (3)"	609638	16175511
ENSG00000096696	"DSP, KPPS2, PPKS2, DCWHKTA"	125647	"Keratosis palmoplantaris striata II, 612908 (3)"	612908	9887343
ENSG00000096696	"DSP, KPPS2, PPKS2, DCWHKTA"	125647	"Skin fragility-woolly hair syndrome, 607655 (3)"	607655	11841538
ENSG00000096872	IFT74	608040	"?Bardet-Biedl syndrome 20, 617119 (3)"	617119	27486776
ENSG00000096968	"JAK2, THCYT3"	147796	"Thrombocythemia 3, 614521 (3)"	614521	"15781101, 15858187"
ENSG00000096996	IL12RB1	601604	"Immunodeficiency 30, 614891 (3)"	614891	"9603733, 9603732"
ENSG00000099246	"RAB18, WARBM3"	602207	"Warburg micro syndrome 3, 614222 (3)"	614222	21473985
ENSG00000099365	STX1B	601485	"Generalized epilepsy with febrile seizures plus, type 9, 616172 (3)"	616172	25362483
ENSG00000099377	HSD3B7	607764	"Bile acid synthesis defect, congenital, 1, 607765 (3)"	607765	11067870
ENSG00000099769	IGFALS	601489	"Acid-labile subunit, deficiency of, 615961 (3)"	615961	14762184
ENSG00000099797	"TECR, GPSN2, TER, SC2, MRT14"	610057	"Mental retardation, autosomal recessive 14, 614020 (3)"	614020	21212097
ENSG00000099810	MTAP	156540	"Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)"	112250	22464254
ENSG00000099937	"HCF2, HC2, SERPIND1, THPH10"	142360	"Thrombophilia due to heparin cofactor II deficiency, 612356 (3)"	612356	2647747
ENSG00000099940	SNAP29	604202	"Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)"	609528	15968592
ENSG00000099949	"LZTR1, SWNTS2, NS10"	600574	"Noonan syndrome 10, 616564 (3)"	616564	25795793
ENSG00000099956	SMARCB1	601607	"Coffin-Siris syndrome 3, 614608 (3)"	614608	22426308
ENSG00000099956	"SMARCB1, SNF5, INI1, RDT, RTPS1, MRD15, SWNTS1, CSS3"	601607	"{Rhabdoid predisposition syndrome 1}, 609322 (3)"	609322	19124645
ENSG00000100014	SPECC1L	614140	"?Facial clefting, oblique, 1, 600251 (3)"	600251	21703590
ENSG00000100014	"SPECC1L, KIAA0376, OBLFC1, GBBB2"	614140	"Opitz GBBB syndrome, type II, 145410 (3)"	145410	25412741
ENSG00000100024	UPB1	606673	"Beta-ureidopropionase deficiency, 613161 (3)"	613161	15385443
ENSG00000100033	PRODH	606810	"Hyperprolinemia, type I, 239500 (3)"	239500	12217952
ENSG00000100053	CRYBB3	123630	"Cataract 22, 609741 (3)"	609741	15914629
ENSG00000100075	SLC25A1	190315	"Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)"	615182	23561848
ENSG00000100099	HPS4	606682	"Hermansky-Pudlak syndrome 4, 614073 (3)"	614073	11836498
ENSG00000100106	TRIOBP	609761	"Deafness, autosomal recessive 28, 609823 (3)"	609823	16385458
ENSG00000100122	CRYBB1	600929	"Cataract 17, multiple types, 611544 (3)"	611544	12360425
ENSG00000100146	"SOX10, WS4, WS4C, PCWH"	602229	"PCWH syndrome, 609136 (3)"	609136	10762540
ENSG00000100146	"SOX10, WS4, WS4C, PCWH"	602229	"Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3)"	611584	10441344
ENSG00000100146	"SOX10, WS4, WS4C, PCWH"	602229	"Waardenburg syndrome, type 4C, 613266 (3)"	613266	9462749
ENSG00000100150	DEPDC5	614191	"Epilepsy, familial focal, with variable foci 1, 604364 (3)"	604364	23542697
ENSG00000100170	SLC5A1	182380	"Glucose/galactose malabsorption, 606824 (3)"	606824	2008213
ENSG00000100225	"FBXO7, FBX7, FBX, PKPS, PARK15"	605648	"Parkinson disease 15, autosomal recessive, 260300 (3)"	260300	18513678
ENSG00000100234	"TIMP3, SFD"	188826	"Sorsby fundus dystrophy, 136900 (3)"	136900	7894485
ENSG00000100241	SBF1	603560	"Charcot-Marie-Tooth disease, type 4B3, 615284 (3)"	615284	23749797
ENSG00000100243	"CYB5R3, DIA1, B5R"	613213	"Methemoglobinemia, type I, 250800 (3)"	250800	9695975
ENSG00000100243	"CYB5R3, DIA1, B5R"	613213	"Methemoglobinemia, type II, 250800 (3)"	250800	7668255
ENSG00000100246	DNAL4	610565	"?Mirror movements 3, 616059 (3)"	616059	25098561
ENSG00000100285	NEFH	162230	"Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)"	616924	27040688
ENSG00000100288	"CHKB, CHKL, CKEKB, EKB, MDCMC"	612395	"Muscular dystrophy, congenital, megaconial type, 602541 (3)"	602541	21665002
ENSG00000100292	HMOX1	141250	"Heme oxygenase-1 deficiency, 614034 (3)"	614034	9884342
ENSG00000100299	ARSA	607574	"Metachromatic leukodystrophy, 250100 (3)"	250100	"1670590, 1678251, 1673291, 1676699, 1684088"
ENSG00000100311	PDGFB	190040	"Basal ganglia calcification, idiopathic, 5, 615483 (3)"	615483	23913003
ENSG00000100311	PDGFB	190040	"Dermatofibrosarcoma protuberans, 607907 (3)"	607907	17478383
ENSG00000100311	"PDGFB, SIS, IBGC5"	190040	"Meningioma, SIS-related, 607174 (3)"	607174	3969118
ENSG00000100345	MYH9	160775	"Deafness, autosomal dominant 17, 603622 (3)"	603622	11023810
ENSG00000100345	MYH9	160775	"Epstein syndrome, 153650 (3)"	153650	11590545
ENSG00000100345	MYH9	160775	"Fechtner syndrome, 153640 (3)"	153640	10973259
ENSG00000100345	"MYH9, MHA, FTNS, DFNA17, BDPLT6"	160775	"Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3)"	600208	12621333
ENSG00000100345	"MYH9, MHA, FTNS, DFNA17, BDPLT6"	160775	"May-Hegglin anomaly, 155100 (3)"	155100	10973259
ENSG00000100345	"MYH9, MHA, FTNS, DFNA17, BDPLT6"	160775	"Sebastian syndrome, 605249 (3)"	605249	10973259
ENSG00000100348	TXN2	609063	"?Combined oxidative phosphorylation deficiency 29, 616811 (3)"	616811	26626369
ENSG00000100360	IFT27	615870	"?Bardet-Biedl syndrome 19, 615996 (3)"	615996	24488770
ENSG00000100365	NCF4	601488	"?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)"	613960	19692703
ENSG00000100368	"CSF2RB, SMDP5"	138981	"Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)"	614370	21075760
ENSG00000100379	KCTD17	616386	"Dystonia 26, myoclonic, 616398 (3)"	616398	25983243
ENSG00000100393	"EP300, RSTS2"	602700	"Rubinstein-Taybi syndrome 2, 613684 (3)"	613684	15706485
ENSG00000100412	ACO2	100850	"?Optic atrophy 9, 616289 (3)"	616289	25351951
ENSG00000100412	ACO2	100850	"Infantile cerebellar-retinal degeneration, 614559 (3)"	614559	22405087
ENSG00000100416	"TRMU, MTO2"	610230	"Liver failure, transient infantile, 613070 (3)"	613070	19732863
ENSG00000100427	"MLC1, LVM, VL"	605908	"Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)"	604004	11254442
ENSG00000100473	COCH	603196	"Deafness, autosomal dominant 9, 601369 (3)"	601369	9806553
ENSG00000100478	"AP4S1, CPSQ6, SPG52"	607243	"Spastic paraplegia 52, autosomal recessive, 614067 (3)"	614067	21620353
ENSG00000100485	"SOS2, NS9"	601247	"Noonan syndrome 9, 616559 (3)"	616559	25795793
ENSG00000100503	NIN	608684	"?Seckel syndrome 7, 614851 (3)"	614851	22933543
ENSG00000100504	PYGL	613741	"Glycogen storage disease VI, 232700 (3)"	232700	9529348
ENSG00000100523	"DDHD1, PAPLA1, KIAA1705, SPG28"	614603	"Spastic paraplegia 28, autosomal recessive, 609340 (3)"	609340	23176821
ENSG00000100578	KIAA0586	610178	"Joubert syndrome 23, 616490 (3)"	616490	26096313
ENSG00000100578	"KIAA0586, TALPID3, JBTS23, SRTD14"	610178	"Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)"	616546	26166481
ENSG00000100596	"SPTLC2, KIAA0526, SPT2, LCB2, HSN1C, NSAN1C"	605713	"Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)"	613640	20920666
ENSG00000100697	"DICER1, HERNA, KIAA0928, MNG1, RMSE2"	606241	"Pleuropulmonary blastoma, 601200 (3)"	601200	19556464
ENSG00000100697	"DICER1, HERNA, KIAA0928, MNG1, RMSE2"	606241	"Rhabdomyosarcoma, embryonal, 2, 180295 (3)"	180295	21882293
ENSG00000100722	"ZC3H14, SUT2, MRT56"	613279	"Mental retardation, autosomal recessive 56, 617125 (3)"	617125	21734151
ENSG00000100726	"TELO2, TEL2, CLK2, KIAA0683, HCLK2, YHFS"	611140	"You-Hoover-Fong syndrome, 616954 (3)"	616954	27132593
ENSG00000100749	"VRK1, PCH1A"	602168	"Pontocerebellar hypoplasia type 1A, 607596 (3)"	607596	19646678
ENSG00000100815	TRIP11	604505	"Achondrogenesis, type IA, 200600 (3)"	200600	20089971
ENSG00000100836	"PABPN1, PABP2, PAB2"	602279	"Oculopharyngeal muscular dystrophy, 164300 (3)"	164300	9462747
ENSG00000100906	NFKBIA	164008	"Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132 (3)"	612132	14523047
ENSG00000100934	SEC23A	610511	"Craniolenticulosutural dysplasia, 607812 (3)"	607812	16980979
ENSG00000100983	GSS	601002	"Glutathione synthetase deficiency, 266130 (3)"	266130	8896573
ENSG00000100983	GSS	601002	"Hemolytic anemia due to glutathione synthetase deficiency, 231900 (3)"	231900	8896573
ENSG00000100985	"MMP9, CLG4B, MANDP2"	120361	"Metaphyseal anadysplasia 2, 613073 (3)"	613073	19615667
ENSG00000100987	VSX1	605020	"?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)"	614195	15051220
ENSG00000100987	"VSX1, RINX, KTCN1, CAASDS"	605020	"Keratoconus 1, 148300 (3)"	148300	11978762
ENSG00000100997	"ABHD12, PHARC"	613599	"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3)"	612674	20797687
ENSG00000101017	CD40	109535	"Immunodeficiency with hyper-IgM, type 3, 606843 (3)"	606843	11675497
ENSG00000101052	IFT52	617094	"Short-rib thoracic dysplasia 16 with or without polydactyly, 617102 (3)"	617102	26880018
ENSG00000101076	HNF4A	600281	"Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3)"	616026	22802087
ENSG00000101109	"STK4, MST1, KRS2, TIIAC"	604965	"T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, 614868 (3)"	614868	22294732
ENSG00000101115	SALL4	607343	"Duane-radial ray syndrome, 607323 (3)"	607323	12393809
ENSG00000101115	SALL4	607343	"IVIC syndrome, 147750 (3)"	147750	17256792
ENSG00000101126	ADNP	611386	"Helsmoortel-van der Aa syndrome, 615873 (3)"	615873	24531329
ENSG00000101152	DNAJC5	611203	"Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 (3)"	162350	21820099
ENSG00000101161	"PRPF6, PRP6, ANT1, TOM, C20orf14"	613979	"Retinitis pigmentosa 60, 613983 (3)"	613983	21549338
ENSG00000101162	TUBB1	612901	"Macrothrombocytopenia, autosomal dominant, TUBB1-related, 613112 (3)"	613112	15956286
ENSG00000101194	"SLC17A9, C20orf59, POROK8"	612107	"Porokeratosis 8, disseminated superficial actinic type, 616063 (3)"	616063	25180256
ENSG00000101200	AVP	192340	"Diabetes insipidus, neurohypophyseal, 125700 (3)"	125700	10369876
ENSG00000101204	CHRNA4	118504	"Epilepsy, nocturnal frontal lobe, 1, 600513 (3)"	600513	7550350
ENSG00000101210	EEF1A2	602959	"Epileptic encephalopathy, early infantile, 33, 616409 (3)"	616409	23033978
ENSG00000101210	"EEF1A2, EIEE33, MRD38"	602959	"Mental retardation, autosomal dominant 38, 616393 (3)"	616393	24697219
ENSG00000101247	"NDUFAF5, C20orf7"	612360	"Mitochondrial complex 1 deficiency, 252010 (3)"	252010	18940309
ENSG00000101266	"CSNK2A1, CK2A1, OCNDS"	115440	"Okur-Chung neurodevelopmental syndrome, 617062 (3)"	617062	27048600
ENSG00000101276	SLC52A3	613350	"Brown-Vialetto-Van Laere syndrome 1, 211530 (3)"	211530	20206331
ENSG00000101276	SLC52A3	613350	"Fazio-Londe disease, 211500 (3)"	211500	21110228
ENSG00000101282	RSPO4	610573	"Anonychia congenita, 206800 (3)"	206800	17041604
ENSG00000101292	PROKR2	607123	"Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3)"	244200	17054399
ENSG00000101310	SEC23B	610512	"Cowden syndrome 7, 616858 (3)"	616858	26522472
ENSG00000101310	SEC23B	610512	"Dyserythropoietic anemia, congenital, type II, 224100 (3)"	224100	19561605
ENSG00000101311	"KIND1, URP1, C20orf42"	607900	"Kindler syndrome, 173650 (3)"	173650	12668616
ENSG00000101327	"PDYN, SCA23"	131340	"Spinocerebellar ataxia 23, 610245 (3)"	610245	21035104
ENSG00000101333	PLCB4	600810	"Auriculocondylar syndrome 2, 614669 (3)"	614669	22560091
ENSG00000101346	POFUT1	607491	"Dowling-Degos disease 2, 615327 (3)"	615327	23684010
ENSG00000101347	SAMHD1	606754	"?Chilblain lupus 2, 614415 (3)"	614415	21204240
ENSG00000101347	SAMHD1	606754	"Aicardi-Goutieres syndrome 5, 612952 (3)"	612952	19525956
ENSG00000101361	"NOP56, SCA36"	614154	"Spinocerebellar ataxia 36, 614153 (3)"	614153	21683323
ENSG00000101365	"IDH3B, RP46"	604526	"Retinitis pigmentosa 46, 612572 (3)"	612572	18806796
ENSG00000101384	JAG1	601920	"?Deafness, congenital heart defects, and posterior embryotoxon (3)Alagille syndrome 1, 118450 (3)"	118450	"9207787, 9207788"
ENSG00000101384	"JAG1, AGS1, AHD"	601920	"Tetralogy of Fallot, 187500 (3)"	187500	11152664
ENSG00000101400	"SNTA1, SNT1, TACIP1, LQT12"	601017	"Long QT syndrome 12, 612955 (3)"	612955	18591664
ENSG00000101421	CHMP4B	610897	"Cataract 31, multiple types, 605387 (3)"	605387	17701905
ENSG00000101439	CST3	604312	"Cerebral amyloid angiopathy, 105150 (3)"	105150	3495457
ENSG00000101439	"CST3, ARMD11"	604312	"{Macular degeneration, age-related, 11}, 611953 (3)"	611953	11815350
ENSG00000101444	AHCY	180960	"Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)"	613752	15024124
ENSG00000101596	SMCHD1	614982	"Bosma arhinia microphthalmia syndrome, 603457 (3)"	603457	28067909
ENSG00000101680	"LAMA1, PTBHS"	150320	"Poretti-Boltshauser syndrome, 615960 (3)"	615960	25105227
ENSG00000101695	"RNF125, TRAC1, TNORS"	610432	"Tenorio syndrome, 616260 (3)"	616260	25196541
ENSG00000101752	"MIB1, MIB, DIP1, KIAA1323, LVNC7"	608677	"Left ventricular noncompaction 7, 615092 (3)"	615092	23314057
ENSG00000101773	RBBP8	604124	"Jawad syndrome, 251255 (3)"	251255	21998596
ENSG00000101773	"RBBP8, RIM, SCKL2, JWDS"	604124	"Seckel syndrome 2, 606744 (3)"	606744	21998596
ENSG00000101846	STS	300747	"Ichthyosis, X-linked, 308100 (3)"	308100	3474618
ENSG00000101850	"GPR143, OA1, NYS6"	300808	"Nystagmus 6, congenital, X-linked, 300814 (3)"	300814	17516023
ENSG00000101850	"GPR143, OA1, NYS6"	300808	"Ocular albinism, type I, Nettleship-Falls type, 300500 (3)"	300500	7647783
ENSG00000101868	POLA1	312040	"Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3)"	301220	27019227
ENSG00000101871	"MID1, OGS1, BBBG1, FXY, OSX"	300552	"Opitz GBBB syndrome, type I, 300000 (3)"	300000	9354791
ENSG00000101901	ALG13	300776	"?Congenital disorder of glycosylation, type Is, 300884 (3)Epileptic encephalopathy, early infantile, 36, 300884 (3)"	300884	23033978
ENSG00000101935	"AMMECR1, MFHIEN"	300195	"Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3)"	300990	27811305
ENSG00000101938	"CHRDL1, VOPT, MGC1"	300350	"Megalocornea 1, X-linked 309300 (3)"	309300	22284829
ENSG00000101966	"XIAP, BIRC4, API3, XLP2"	300079	"Lymphoproliferative syndrome, X-linked, 2, 300635 (3)"	300635	17080092
ENSG00000101981	F9	300746	"Hemophilia B, 306900 (3)"	306900	3001143
ENSG00000101986	ABCD1	300371	"Adrenoleukodystrophy, 300100 (3)Adrenomyeloneuropathy, adult, 300100 (3)"	300100	8441467
ENSG00000101997	"CCDC22, RTSC2"	300859	"Ritscher-Schinzel syndrome 2, 300963 (3)"	300963	21826058
ENSG00000102001	CACNA1F	300110	"Aland Island eye disease, 300600 (3)"	300600	12111638
ENSG00000102001	CACNA1F	300110	"Cone-rod dystrophy, X-linked, 3, 300476 (3)"	300476	16505158
ENSG00000102001	"CACNA1F, CSNB2, CORDX3, CSNB2A, AIED, OA2"	300110	"Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)"	300071	9662399
ENSG00000102003	"SYP, MRXSYP"	313475	"Mental retardation, X-linked 96, 300802 (3)"	300802	19377476
ENSG00000102024	PLS3	300131	"Bone mineral density QTL18, osteoporosis, 300910 (3)"	300910	24088043
ENSG00000102030	NAA10	300013	"?Microphthalmia, syndromic 1, 309800 (3)"	309800	24431331
ENSG00000102030	"NAA10, ARD1A, ARD1, TE2, NATD, OGDNS, MCOPS1"	300013	"Ogden syndrome, 300855 (3)"	300855	21700266
ENSG00000102081	FMR1	309550	"Fragile X syndrome, 300624 (3)"	300624	1675488
ENSG00000102081	FMR1	309550	"Fragile X tremor/ataxia syndrome, 300623 (3)"	300623	11445641
ENSG00000102081	"FMR1, FRAXA, POF1"	309550	"Premature ovarian failure 1, 311360 (3)"	311360	9719368
ENSG00000102100	SLC35A2	314375	"Congenital disorder of glycosylation, type IIm, 300896 (3)"	300896	23561849
ENSG00000102103	"PQBP1, NPW38, SHS, MRX55, MRXS3, RENS1, MRXS8"	300463	"Renpenning syndrome, 309500 (3)"	309500	14634649
ENSG00000102104	"RS1, XLRS1"	300839	"Retinoschisis, 312700 (3)"	312700	9326935
ENSG00000102119	EMD	300384	"Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)"	310300	7894480
ENSG00000102125	TAZ	300394	"Barth syndrome, 302060 (3)"	302060	8630491
ENSG00000102144	"PGK1, PGKA"	311800	"Phosphoglycerate kinase 1 deficiency, 300653 (3)"	300653	6933565
ENSG00000102145	GATA1	305371	"Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3)"	300835	16783379
ENSG00000102145	"GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP"	305371	"Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3)"	314050	12200364
ENSG00000102145	"GATA1, GF1, ERYF1, NFE1, XLTDA, XLTT, XLANP"	305371	"Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3)"	300367	10700180
ENSG00000102158	MAGT1	300715	"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853 (3)"	300853	21796205
ENSG00000102172	"SMS, SRS, MRSR"	300105	"Mental retardation, X-linked, Snyder-Robinson type, 309583 (3)"	309583	14508504
ENSG00000102174	PHEX	300550	"Hypophosphatemic rickets, X-linked dominant, 307800 (3)"	307800	7550339
ENSG00000102218	RP2	300757	"Retinitis pigmentosa 2, 312600 (3)"	312600	9697692
ENSG00000102245	CD40LG	300386	"Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)"	308230	7679801
ENSG00000102302	FGD1	300546	"Aarskog-Scott syndrome, 305400 (3)"	305400	7954831
ENSG00000102302	"FGD1, FGDY, AAS, MRXS16"	300546	"Mental retardation, X-linked syndromic 16, 305400 (3)"	305400	7954831
ENSG00000102312	PORCN	300651	"Focal dermal hypoplasia, 305600 (3)"	305600	17546030
ENSG00000102316	MAGED2	300470	"Bartter syndrome, type 5, antenatal, transient, 300971 (3)"	300971	27120771
ENSG00000102359	SRPX2	300642	"?Rolandic epilepsy, mental retardation, and speech dyspraxia, 300643 (3)"	300643	16497722
ENSG00000102383	ZDHHC15	300576	"?Mental retardation, X-linked 91, 300577 (3)"	300577	15915161
ENSG00000102393	GLA	300644	"Fabry disease, 301500 (3)"	301500	2539398
ENSG00000102393	GLA	300644	"Fabry disease, cardiac variant, 301500 (3)"	301500	2539398
ENSG00000102452	NALCN	611549	"Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)"	616266	25683120
ENSG00000102452	NALCN	611549	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)"	615419	23749988
ENSG00000102466	"FGF14, FHF4, SCA27"	601515	"Spinocerebellar ataxia 27, 609307 (3)"	609307	12489043
ENSG00000102575	"ACP5, SPENCDI"	171640	"Spondyloenchondrodysplasia with immune dysregulation, 607944 (3)"	607944	21217755
ENSG00000102580	DNAJC3	601184	"?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3)"	616192	25466870
ENSG00000102678	FGF9	600921	"?Multiple synostoses syndrome 3, 612961 (3)"	612961	19589401
ENSG00000102683	"SGCG, LGMD2C, DMDA1, SCG3"	608896	"Muscular dystrophy, limb-girdle, type 2C, 253700 (3)"	253700	7481775
ENSG00000102743	SLC25A15	603861	"Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)"	238970	10369256
ENSG00000102805	CLN5	608102	"Ceroid lipofuscinosis, neuronal, 5, 256731 (3)"	256731	9662406
ENSG00000102878	HSF4	602438	"Cataract 5, multiple types, 116800 (3)"	116800	12089525
ENSG00000102879	CORO1A	605000	"Immunodeficiency 8, 615401 (3)"	615401	19097825
ENSG00000102893	PHKB	172490	"Phosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3)"	261750	9215682
ENSG00000102900	"NUP93, NIC96, KIAA0095, NPHS12"	614351	"Nephrotic syndrome, type 12, 616892 (3)"	616892	26878725
ENSG00000102931	"ARL2BP, BART"	615407	"Retinitis pigmentosa with or without situs inversus, 615434 (3)"	615434	23849777
ENSG00000102935	ZNF423	604557	"Joubert syndrome 19, 614844 (3)"	614844	22863007
ENSG00000102935	"ZNF423, ZFP423, OAZ, KIAA0760, NPHP14, JBTS19"	604557	"Nephronophthisis 14, 614844 (3)"	614844	22863007
ENSG00000102967	"DHODH, URA1, POADS"	126064	"Miller syndrome, 263750 (3)"	263750	19915526
ENSG00000102974	"CTCF, MRD21"	604167	"Mental retardation, autosomal dominant 21, 615502 (3)"	615502	23746550
ENSG00000102977	ACD	609377	"?Dyskeratosis congenita, autosomal dominant 6, 616553 (3)?Dyskeratosis congenita, autosomal recessive 7, 616553 (3)"	616553	25205116
ENSG00000103005	"C16orf57, PN"	613276	"Poikiloderma with neutropenia, 604173 (3)"	604173	20004881
ENSG00000103043	"VAC14, TAX1BP2, TRX, SNDC"	604632	"Striatonigral degeneration, childhood-onset, 617054 (3)"	617054	27292112
ENSG00000103051	COG4	606976	"Congenital disorder of glycosylation, type IIj, 613489 (3)"	613489	19494034
ENSG00000103089	"FA2H, FAAH, FAXDC1, FAH1, SCS7, SPG35"	611026	"Spastic paraplegia 35, autosomal recessive, 612319 (3)"	612319	19068277
ENSG00000103126	AXIN1	603816	"?Caudal duplication anomaly, 607864 (3)"	607864	12376942
ENSG00000103148	NPRL3	600928	"Epilepsy, familial focal, with variable foci 3, 617118 (3)"	617118	26505888
ENSG00000103150	"MLYCD, MCD"	606761	"Malonyl-CoA decarboxylase deficiency, 248360 (3)"	248360	9869665
ENSG00000103197	"TSC2, LAM"	191092	"Tuberous sclerosis-2, 613254 (3)"	613254	7581393
ENSG00000103227	"LMF1, TMEM112"	611761	"Lipase deficiency, combined, 246650 (3)"	246650	17994020
ENSG00000103241	FOXF1	601089	"Alveolar capillary dysplasia with misalignment of pulmonary veins, 265380 (3)"	265380	19500772
ENSG00000103249	"CLCN7, CLC7, OPTA2, OPTB4"	602727	"Osteopetrosis, autosomal dominant 2, 166600 (3)"	166600	11741829
ENSG00000103249	"CLCN7, CLC7, OPTA2, OPTB4"	602727	"Osteopetrosis, autosomal recessive 4, 611490 (3)"	611490	11207362
ENSG00000103264	FBXO31	609102	"?Mental retardation, autosomal recessive 45, 615979 (3)"	615979	24623383
ENSG00000103266	"STUB1, CHIP, SCAR16"	607207	"Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)"	615768	24312598
ENSG00000103313	MEFV	608107	"Familial Mediterranean fever, AD, 134610 (3)"	134610	10787449
ENSG00000103313	MEFV	608107	"Familial Mediterranean fever, AR, 249100 (3)"	249100	9288094
ENSG00000103316	CRYM	123740	"Deafness, autosomal dominant 40, 616357 (3)"	616357	12471561
ENSG00000103335	PIEZO1	611184	"Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)"	194380	22529292
ENSG00000103335	"PIEZO1, FAM38A, MIB, DHS, LMPH3"	611184	"Lymphedema, hereditary, III, 616843 (3)"	616843	26333996
ENSG00000103356	EARS2	612799	"Combined oxidative phosphorylation deficiency 12, 614924 (3)"	614924	22492562
ENSG00000103449	"SALL1, HSAL1, TBS"	602218	"Townes-Brocks branchiootorenal-like syndrome, 107480 (3)"	107480	10928856
ENSG00000103449	"SALL1, HSAL1, TBS"	602218	"Townes-Brocks syndrome, 107480 (3)"	107480	9425907
ENSG00000103489	XYLT1	608124	"Desbuquois dysplasia 2, 615777 (3)"	615777	23982343
ENSG00000103494	RPGRIP1L	610937	"Joubert syndrome 7, 611560 (3)"	611560	17558409
ENSG00000103494	"RPGRIP1L, KIAA1005, JBTS7, MKS5"	610937	"Meckel syndrome 5, 611561 (3)"	611561	17558409
ENSG00000103507	BCKDK	614901	"Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)"	614923	22956686
ENSG00000103522	IL21R	605383	"Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 (3)"	615207	23440042
ENSG00000103546	"SLC6A2, NAT1, NET1"	163970	"Orthostatic intolerance, 604715 (3)"	604715	10684912
ENSG00000103591	"AAGAB, p34, PPKP1A, PPKP1, KPPP1"	614888	"Keratoderma, palmoplantar, punctate type IA, 148600 (3)"	148600	23000146
ENSG00000103657	"HERC1, MDFPMR"	605109	"Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)"	617011	26138117
ENSG00000103671	TRIP4	604501	"?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)"	617066	27008887
ENSG00000103671	"TRIP4, ASC1, SMABF1, MDCDC"	604501	"Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)"	616866	26924529
ENSG00000103707	MTFMT	611766	"Combined oxidative phosphorylation deficiency 15, 614947 (3)"	614947	21907147
ENSG00000103723	AP3B2	602166	"Epileptic encephalopathy, early infantile, 48, 617276 (3)"	617276	27889060
ENSG00000103876	FAH	613871	"Tyrosinemia, type I, 276700 (3)"	276700	8028615
ENSG00000103942	HOMER2	604799	"?Deafness, autosomal dominant 68, 616707 (3)"	616707	25816005
ENSG00000103995	"CEP152, KIAA0912, MCPH9, SCKL5"	613529	"Microcephaly 9, primary, autosomal recessive, 614852 (3)"	614852	20598275
ENSG00000103995	"CEP152, KIAA0912, MCPH9, SCKL5"	613529	"Seckel syndrome 5, 613823 (3)"	613823	21131973
ENSG00000104044	OCA2	611409	"Albinism, brown oculocutaneous, 203200 (3)"	203200	7920637
ENSG00000104044	OCA2	611409	"Albinism, oculocutaneous, type II, 203200 (3)"	203200	7920637
ENSG00000104055	"TGM5, TGX, PSS2"	603805	"Peeling skin syndrome 2, 609796 (3)"	609796	16380904
ENSG00000104093	DMXL2	612186	"?Polyendocrine-polyneuropathy syndrome, 616113 (3)"	616113	25248098
ENSG00000104133	SPG11	610844	"Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)"	602099	20110243
ENSG00000104133	SPG11	610844	"Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)"	616668	26556829
ENSG00000104133	"SPG11, KIAA1840, FLJ21439, ALS5, CMT2X"	610844	"Spastic paraplegia 11, autosomal recessive, 604360 (3)"	604360	17322883
ENSG00000104164	BLOC1S6	604310	"Hermansky-pudlak syndrome 9, 614171 (3)"	614171	"21665000, 22461475"
ENSG00000104218	CSPP1	611654	"Joubert syndrome 21, 615636 (3)"	615636	24360808
ENSG00000104237	"RP1, ORP1"	603937	"Retinitis pigmentosa 1, 180100 (3)"	180100	10391211
ENSG00000104267	CA2	611492	"Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)"	259730	1928091
ENSG00000104313	EYA1	601653	"?Otofaciocervical syndrome, 166780 (3)"	166780	16441263
ENSG00000104313	EYA1	601653	"Anterior segment anomalies with or without cataract, 602588 (3)"	602588	10655545
ENSG00000104313	EYA1	601653	"Branchiootic syndrome 1, 602588 (3)"	602588	9359046
ENSG00000104313	EYA1	601653	"Branchiootorenal syndrome 1, with or without cataracts, 113650 (3)"	113650	9020840
ENSG00000104320	"NBN, NBS1"	602667	"Nijmegen breakage syndrome, 251260 (3)"	251260	"9590180, 9590181"
ENSG00000104321	TRPA1	604775	"Episodic pain syndrome, familial, 615040 (3)"	615040	20547126
ENSG00000104331	IMPAD1	614010	"Chondrodysplasia with joint dislocations, GPAPP type, 614078 (3)"	614078	21549340
ENSG00000104356	POP1	602486	"Anauxetic dysplasia 2, 617396 (3)"	617396	21455487
ENSG00000104365	IKBKB	603258	"Immunodeficiency 15, 615592 (3)"	615592	24369075
ENSG00000104381	GDAP1	606598	"Charcot-Marie-Tooth disease, axonal, type 2K, 607831 (3)"	607831	12707075
ENSG00000104381	GDAP1	606598	"Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, 607706 (3)"	607706	11743580
ENSG00000104381	GDAP1	606598	"Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)"	608340	12499475
ENSG00000104381	GDAP1	606598	"Charcot-Marie-Tooth disease, type 4A, 214400 (3)"	214400	11743579
ENSG00000104419	NDRG1	605262	"Charcot-Marie-Tooth disease, type 4D, 601455 (3)"	601455	10831399
ENSG00000104447	TRPS1	604386	"Trichorhinophalangeal syndrome, type I, 190350 (3)"	190350	10615131
ENSG00000104447	TRPS1	604386	"Trichorhinophalangeal syndrome, type III, 190351 (3)"	190351	11112658
ENSG00000104450	SPAG1	603395	"Ciliary dyskinesia, primary, 28, 615505 (3)"	615505	24055112
ENSG00000104635	SLC39A14	608736	"Hypermanganesemia with dystonia 2, 617013 (3)"	617013	27231142
ENSG00000104723	"TUSC3, M33, D8S1992, MRT7, MRT22"	601385	"Mental retardation, autosomal recessive 7, 611093 (3)"	611093	18452889
ENSG00000104728	ARHGEF10	608136	"?Slowed nerve conduction velocity, AD, 608236 (3)"	608236	14508709
ENSG00000104738	"MCM4, NKGCD, NKCD"	602638	"Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)"	609981	22354167
ENSG00000104763	ASAH1	613468	"Farber lipogranulomatosis, 228000 (3)"	228000	8955159
ENSG00000104763	"ASAH1, AC, SMAPME"	613468	"Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)"	159950	22703880
ENSG00000104774	"MAN2B1, MANB"	609458	"Mannosidosis, alpha-, types I and II, 248500 (3)"	248500	9158146
ENSG00000104783	KCNN4	602754	"Dehydrated hereditary stomatocytosis 2, 616689 (3)"	616689	26148990
ENSG00000104812	GYS1	138570	"Glycogen storage disease 0, muscle, 611556 (3)"	611556	17928598
ENSG00000104826	LHB	152780	"Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)"	228300	1727547
ENSG00000104833	TUBB4A	602662	"Dystonia 4, torsion, autosomal dominant, 128101 (3)"	128101	21956287
ENSG00000104833	"TUBB4A, DYT4, HLD6"	602662	"Leukodystrophy, hypomyelinating, 6, 612438 (3)"	612438	23582646
ENSG00000104835	SARS2	612804	"Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)"	613845	21255763
ENSG00000104884	ERCC2	126340	"Cerebrooculofacioskeletal syndrome 2, 610756 (3)"	610756	11443545
ENSG00000104884	"ERCC2, EM9, XPD, COFS2, TTD1"	126340	"Trichothiodystrophy 1, photosensitive, 601675 (3)"	601675	9195225
ENSG00000104884	"ERCC2, EM9, XPD, COFS2, TTD1"	126340	"Xeroderma pigmentosum, group D, 278730 (3)"	278730	7849702
ENSG00000104889	RNASEH2A	606034	"Aicardi-Goutieres syndrome 4, 610333 (3)"	610333	16845400
ENSG00000104899	"AMH, MIF"	600957	"Persistent Mullerian duct syndrome, type I, 261550 (3)"	261550	2023927
ENSG00000104936	"DMPK, DM, DMK"	605377	"Myotonic dystrophy 1, 160900 (3)"	160900	1346923
ENSG00000104953	"TLE6, GRG6, PREMBL"	612399	"Preimplantation embryonic lethality, 616814 (3)"	616814	26537248
ENSG00000104973	MED25	610197	"?Charcot-Marie-Tooth disease, type 2B2, 605589 (3)"	605589	19290556
ENSG00000104973	MED25	610197	"Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)"	616449	25792360
ENSG00000105048	"TNNT1, ANM, NEM5"	191041	"Nemaline myopathy 5, Amish type, 605355 (3)"	605355	10952871
ENSG00000105141	CASP14	605848	"Ichthyosis, congenital, autosomal recessive 12, 617320 (3)"	617320	27494380
ENSG00000105146	"AURKC, STK13, AIE2, SPGF5"	603495	"Spermatogenic failure 5, 243060 (3)"	243060	17435757
ENSG00000105204	DYRK1B	604556	"Abdominal obesity-metabolic syndrome 3, 615812 (3)"	615812	24827035
ENSG00000105220	GPI	172400	"Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)"	613470	8499925
ENSG00000105221	AKT2	164731	"Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3)"	240900	21979934
ENSG00000105227	PRX	605725	"Charcot-Marie-Tooth disease, type 4F, 614895 (3)"	614895	11157804
ENSG00000105329	TGFB1	190180	"Camurati-Engelmann disease, 131300 (3)"	131300	10973241
ENSG00000105357	MYH14	608568	"?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)"	614369	21480433
ENSG00000105357	MYH14	608568	"Deafness, autosomal dominant 4A, 600652 (3)"	600652	15015131
ENSG00000105369	CD79A	112205	"Agammaglobulinemia 3, 613501 (3)"	613501	10525050
ENSG00000105370	LIM2	154045	"Cataract 19, multiple types, 615277 (3)"	615277	11917274
ENSG00000105372	RPS19	603474	"Diamond-Blackfan anemia 1, 105650 (3)"	105650	9988267
ENSG00000105392	CRX	602225	"Cone-rod retinal dystrophy-2, 120970 (3)"	120970	9390563
ENSG00000105392	"CRX, CORD2, CRD, LCA7"	602225	"Leber congenital amaurosis 7, 613829 (3)"	613829	9537410
ENSG00000105397	TYK2	176941	"Immunodeficiency 35, 611521 (3)"	611521	17088085
ENSG00000105409	ATP1A3	182350	"Alternating hemiplegia of childhood 2, 614820 (3)"	614820	22842232
ENSG00000105409	ATP1A3	182350	"CAPOS syndrome, 601338 (3)"	601338	24468074
ENSG00000105409	ATP1A3	182350	"Dystonia-12, 128235 (3)"	128235	15260953
ENSG00000105429	MEGF8	604267	"Carpenter syndrome 2, 614976 (3)"	614976	23063620
ENSG00000105464	GRIN2D	602717	"Epileptic encephalopathy, early infantile, 46, 617162 (3)"	617162	27616483
ENSG00000105479	CCDC114	615038	"Ciliary dyskinesia, primary, 20, 615067 (3)"	615067	"23261303, 23261302"
ENSG00000105568	"PPP2R1A, MRD36"	605983	"Mental retardation, autosomal dominant 36, 616362 (3)"	616362	25533962
ENSG00000105607	GCDH	608801	"Glutaricaciduria, type I, 231670 (3)"	231670	8541831
ENSG00000105610	KLF1	600599	"Blood group--Lutheran inhibitor, 111150 (3)"	111150	18487511
ENSG00000105610	KLF1	600599	"Dyserythropoietic anemia, congenital, type IV, 613673 (3)"	613673	21055716
ENSG00000105610	KLF1	600599	"[Hereditary persistence of fetal hemoglobin], 613566 (3)"	613566	20676099
ENSG00000105639	"JAK3, JAKL"	600173	"SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)"	600802	7659163
ENSG00000105641	"SLC5A5, NIS, TDH1"	601843	"Thyroid dyshormonogenesis 1, 274400 (3)"	274400	9171822
ENSG00000105647	"PIK3R2, MPPH1"	603157	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)"	603387	22729224
ENSG00000105664	COMP	600310	"Epiphyseal dysplasia, multiple, 1, 132400 (3)"	132400	"7670471, 7670472"
ENSG00000105664	"COMP, EDM1, MED, PSACH"	600310	"Pseudoachondroplasia, 177170 (3)"	177170	"7670471, 7670472"
ENSG00000105695	"MAG, GMA, SPG75"	159460	"Spastic paraplegia 75, autosomal recessive, 616680 (3)"	616680	24482476
ENSG00000105697	HAMP	606464	"Hemochromatosis, type 2B, 613313 (3)"	613313	12469120
ENSG00000105711	SCN1B	600235	"Atrial fibrillation, familial, 13, 615377 (3)"	615377	19808477
ENSG00000105711	SCN1B	600235	"Brugada syndrome 5, 612838 (3)"	612838	18464934
ENSG00000105711	SCN1B	600235	"Cardiac conduction defect, nonspecific, 612838 (3)"	612838	18464934
ENSG00000105711	SCN1B	600235	"Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)"	604233	9697698
ENSG00000105711	SCN1B	600235	"Epileptic encephalopathy, early infantile, 52, 617350 (3)"	617350	19710327
ENSG00000105722	ERF	611888	"Chitayat syndrome, 617180 (3)"	617180	27738187
ENSG00000105722	ERF	611888	"Craniosynostosis 4, 600775 (3)"	600775	23354439
ENSG00000105738	SIPA1L3	616655	"?Cataract 45, 616851 (3)"	616851	25804400
ENSG00000105755	ETHE1	608451	"Ethylmalonic encephalopathy, 602473 (3)"	602473	14732903
ENSG00000105771	SMG9	613176	"Heart and brain malformation syndrome, 616920 (3)"	616920	27018474
ENSG00000105810	CDK6	603368	"?Microcephaly 12, primary, autosomal recessive, 616080 (3)"	616080	23918663
ENSG00000105877	DNAH11	603339	"Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)"	611884	12142464
ENSG00000105880	DLX5	600028	"?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600 (3)"	220600	22121204
ENSG00000105928	DFNA5	608798	"Deafness, autosomal dominant 5, 600994 (3)"	600994	9771715
ENSG00000105929	"ATP6V0A4, ATP6N1B, VPP2, RTA1C, RTADR"	605239	"Renal tubular acidosis, distal, autosomal recessive, 602722 (3)"	602722	10973252
ENSG00000105953	OGDH	613022	"Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)"	203740	7075624
ENSG00000105974	CAV1	601047	"?Lipodystrophy, congenital generalized, type 3, 612526 (3)"	612526	18211975
ENSG00000105974	CAV1	601047	"?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3)"	606721	18237401
ENSG00000105974	"CAV1, BSCL3, CGL3, PPH3, LCCNS"	601047	"Pulmonary hypertension, primary, 3, 615343 (3)"	615343	22474227
ENSG00000105976	MET	164860	"?Deafness, autosomal recessive 97, 616705 (3)"	616705	25941349
ENSG00000105983	LMBR1	605522	"Acheiropody, 200500 (3)"	200500	11090342
ENSG00000105983	LMBR1	605522	"Hypoplastic or aplastic tibia with polydactyly, 188740 (3)"	188740	19847792
ENSG00000105983	"LMBR1, ACHP, C7orf2, PPD2, THYP, LSS"	605522	"Laurin-Sandrow syndrome, 135750 (3)"	135750	24456159
ENSG00000105983	"LMBR1, ACHP, C7orf2, PPD2, THYP, LSS"	605522	"Polydactyly, preaxial type II, 174500 (3)"	174500	18178630
ENSG00000105983	"LMBR1, ACHP, C7orf2, PPD2, THYP, LSS"	605522	"Syndactyly, type IV, 186200 (3)"	186200	18417549
ENSG00000105983	"LMBR1, ACHP, C7orf2, PPD2, THYP, LSS"	605522	"Triphalangeal thumb, type I, 174500 (3)"	174500	17152067
ENSG00000105983	"LMBR1, ACHP, C7orf2, PPD2, THYP, LSS"	605522	"Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)"	174500	12837695
ENSG00000105991	HOXA1	142955	"Athabaskan brainstem dysgenesis syndrome, 601536 (3)"	601536	16155570
ENSG00000105991	HOXA1	142955	"Bosley-Salih-Alorainy syndrome, 601536 (3)"	601536	16155570
ENSG00000105993	"DNAJB6, MRJ, DJ4, LGMD1E"	611332	"Muscular dystrophy, limb-girdle, type 1E, 603511 (3)"	603511	22334415
ENSG00000105996	HOXA2	604685	"?Microtia with or without hearing impairment (AD), 612290 (3)"	612290	23775976
ENSG00000105996	HOXA2	604685	"?Microtia, hearing impairment, and cleft palate (AR), 612290 (3)"	612290	18394579
ENSG00000106003	LFNG	602576	"?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)"	609813	16385447
ENSG00000106009	"BRAT1, BAAT1, C7orf27, RMFSL"	614506	"Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)"	614498	22279524
ENSG00000106025	TSPAN12	613138	"Exudative vitreoretinopathy 5, 613310 (3)"	613310	20159111
ENSG00000106031	HOXA13	142959	"Guttmacher syndrome, 176305 (3)"	176305	11968094
ENSG00000106031	HOXA13	142959	"Hand-foot-uterus syndrome, 140000 (3)"	140000	9020844
ENSG00000106080	FKBP14	614505	"Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)"	614557	22265013
ENSG00000106105	GARS	600287	"Charcot-Marie-Tooth disease, type 2D, 601472 (3)"	601472	12690580
ENSG00000106105	"GARS, SMAD1, CMT2D, HMN5"	600287	"Neuropathy, distal hereditary motor, type VA, 600794 (3)"	600794	12690580
ENSG00000106153	"CHCHD2, PARK22"	616244	"Parkinson disease 22, autosomal dominant, 616710 (3)"	616710	25662902
ENSG00000106211	HSPB1	602195	"Charcot-Marie-Tooth disease, axonal, type 2F, 606595 (3)"	606595	15122254
ENSG00000106211	"HSPB1, HSP27, CMT2F, HMN2B"	602195	"Neuropathy, distal hereditary motor, type IIB, 608634 (3)"	608634	15122254
ENSG00000106290	TAF6	602955	"Alazami-Yuan syndrome, 617126 (3)"	617126	25558065
ENSG00000106327	TFR2	604720	"Hemochromatosis, type 3, 604250 (3)"	604250	10802645
ENSG00000106331	"PAX4, MODY9, KPD"	167413	"Maturity-onset diabetes of the young, type IX, 612225 (3)"	612225	17426099
ENSG00000106344	RBM28	612074	"?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)"	612079	18439547
ENSG00000106348	"IMPDH1, RP10, LCA11"	146690	"Leber congenital amaurosis 11, 613837 (3)"	613837	16384941
ENSG00000106348	"IMPDH1, RP10, LCA11"	146690	"Retinitis pigmentosa 10, 180105 (3)"	180105	11875050
ENSG00000106366	"PAI1, PLANH1, SERPINE1"	173360	"Plasminogen activator inhibitor-1 deficiency, 613329 (3)"	613329	1435917
ENSG00000106367	"AP1S1, CLAPS1, AP19, MEDNIK"	603531	"MEDNIK syndrome, 609313 (3)"	609313	19057675
ENSG00000106397	"PLOD3, LH3"	603066	"Lysyl hydroxylase 3 deficiency, 612394 (3)"	612394	18834968
ENSG00000106410	"NOBOX, POF5"	610934	"Premature ovarian failure 5, 611548 (3)"	611548	17701902
ENSG00000106462	"EZH2, EZH1, WVS"	601573	"Weaver syndrome, 277590 (3)"	277590	22177091
ENSG00000106477	CEP41	610523	"Joubert syndrome 15, 614464 (3)"	614464	22246503
ENSG00000106483	"SFRP4, FRPHE, PYL"	606570	"Pyle disease, 265900 (3)"	265900	27355534
ENSG00000106571	GLI3	165240	"Greig cephalopolysyndactyly syndrome, 175700 (3)"	175700	1650914
ENSG00000106571	"GLI3, PAPA, PAPB"	165240	"Pallister-Hall syndrome, 146510 (3)"	146510	9054938
ENSG00000106571	"GLI3, PAPA, PAPB"	165240	"Polydactyly, postaxial, types A1 and B, 174200 (3)"	174200	9042919
ENSG00000106571	"GLI3, PAPA, PAPB"	165240	"Polydactyly, preaxial, type IV, 174700 (3)"	174700	15811011
ENSG00000106605	BLVRA	109750	"Hyperbiliverdinemia, 614156 (3)"	614156	19580635
ENSG00000106617	PRKAG2	602743	"Glycogen storage disease of heart, lethal congenital, 261740 (3)"	261740	1587727
ENSG00000106617	"PRKAG2, WPWS, CMH6"	602743	"Wolff-Parkinson-White syndrome, 194200 (3)"	194200	11407343
ENSG00000106633	GCK	138079	"Hyperinsulinemic hypoglycemia, familial, 3, 602485 (3)"	602485	9435328
ENSG00000106688	SLC1A1	133550	"Dicarboxylic aminoaciduria, 222730 (3)"	222730	21123949
ENSG00000106692	FKTN	607440	"Cardiomyopathy, dilated, 1X, 611615 (3)"	611615	17036286
ENSG00000106692	"FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4"	607440	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)"	253800	9690476
ENSG00000106692	"FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4"	607440	"Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)"	613152	19299310
ENSG00000106692	"FKTN, FCMD, CMD1X, LGMD2M, MDDGA4, MDDGB4, MDDGC4"	607440	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)"	611588	17044012
ENSG00000106799	"TGFBR1, ALK5, AAT5, LDS1, MSSE"	190181	"Loeys-Dietz syndrome 1, 609192 (3)"	609192	15731757
ENSG00000106804	C5	120900	"C5 deficiency, 609536 (3)"	609536	7730648
ENSG00000106976	DNM1	602377	"Epileptic encephalopathy, early infantile, 31, 616346 (3)"	616346	25262651
ENSG00000106991	"ENG, END, HHT1, ORW"	131195	"Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)"	187300	7894484
ENSG00000106992	AK1	103000	"Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)"	612631	2542324
ENSG00000107099	DOCK8	611432	"Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)"	243700	19776401
ENSG00000107104	KANK1	607704	"Cerebral palsy, spastic quadriplegic, 2, 612900 (3)"	612900	16301218
ENSG00000107147	KCNT1	608167	"Epileptic encephalopathy, early infantile, 14, 614959 (3)"	614959	23086397
ENSG00000107165	TYRP1	115501	"Albinism, oculocutaneous, type III, 203290 (3)"	203290	8651291
ENSG00000107186	MPDZ	603785	"Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)"	615219	23240096
ENSG00000107187	"LHX3, CPHD3"	600577	"Pituitary hormone deficiency, combined, 3, 221750 (3)"	221750	10835633
ENSG00000107201	"DDX58, RIGI, SGMRT2"	609631	"Singleton-Merten syndrome 2, 616298 (3)"	616298	25620203
ENSG00000107249	GLIS3	610192	"Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)"	610199	16715098
ENSG00000107290	SETX	608465	"Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)"	602433	15106121
ENSG00000107290	"SETX, SCAR1, AOA2, ALS4"	608465	"Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)"	606002	14770181
ENSG00000107371	"EXOSC3, RRP40, PCH1B"	606489	"Pontocerebellar hypoplasia, type 1B, 614678 (3)"	614678	22544365
ENSG00000107404	"DVL1, DRS2"	601365	"Robinow syndrome, autosomal dominant 2, 616331 (3)"	616331	25817016
ENSG00000107485	GATA3	131320	"Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3)"	146255	10935639
ENSG00000107521	HPS1	604982	"Hermansky-Pudlak syndrome 1, 203300 (3)"	203300	8896559
ENSG00000107537	"PHYH, PAHX"	602026	"Refsum disease, 266500 (3)"	266500	9326939
ENSG00000107566	"ERLIN1, SPG62"	611604	"Spastic paraplegia 62, 615681 (3)"	615681	24482476
ENSG00000107611	"CUBN, IFCR, MGA1"	602997	"Megaloblastic anemia-1, Finnish type, 261100 (3)"	261100	15024727
ENSG00000107736	CDH23	605516	"Deafness, autosomal recessive 12, 601386 (3)"	601386	11090341
ENSG00000107736	"CDH23, USH1D"	605516	"Usher syndrome, type 1D, 601067 (3)"	601067	11138009
ENSG00000107736	"CDH23, USH1D"	605516	"Usher syndrome, type 1D/F digenic, 601067 (3)"	601067	15537665
ENSG00000107745	"MICU1, CBARA1, MPXPS"	605084	"Myopathy with extrapyramidal signs, 615673 (3)"	615673	24336167
ENSG00000107779	BMPR1A	601299	"Juvenile polyposis syndrome, infantile form, 174900 (3)"	174900	9582123
ENSG00000107779	"BMPR1A, ACVRLK3, ALK3"	601299	"Polyposis syndrome, hereditary mixed, 2, 610069 (3)"	610069	16525031
ENSG00000107779	"BMPR1A, ACVRLK3, ALK3"	601299	"Polyposis, juvenile intestinal, 174900 (3)"	174900	11381269
ENSG00000107796	ACTA2	102620	"Aortic aneurysm, familial thoracic 6, 611788 (3)"	611788	17994018
ENSG00000107796	"ACTA2, ACTSA, AAT6, MYMY5"	102620	"Moyamoya disease 5, 614042 (3)"	614042	19409525
ENSG00000107796	"ACTA2, ACTSA, AAT6, MYMY5"	102620	"Multisystemic smooth muscle dysfunction syndrome, 613834 (3)"	613834	20734336
ENSG00000107798	LIPA	613497	"Cholesteryl ester storage disease, 278000 (3)"	278000	8254026
ENSG00000107798	"LIPA, CESD"	613497	"Wolman disease, 278000 (3)"	278000	8254026
ENSG00000107815	"TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5"	606075	"Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)"	271245	12459258
ENSG00000107815	"TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5"	606075	"Perrault syndrome 5, 616138 (3)"	616138	25355836
ENSG00000107815	"TWNK, C10orf2, TWINKLE, PEOA3, IOSCA, MTDPS7, PRLTS5"	606075	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286 (3)"	609286	11431692
ENSG00000107831	FGF8	600483	"Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3)"	612702	18596921
ENSG00000107859	PITX3	602669	"Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)"	107250	9620774
ENSG00000107859	PITX3	602669	"Cataract 11, multiple types, 610623 (3)"	610623	9620774
ENSG00000107859	PITX3	602669	"Cataract 11, syndromic, 610623 (3)"	610623	9620774
ENSG00000107882	"SUFU, SUFUXL, SUFUH"	607035	"Medulloblastoma, desmoplastic, 155255 (3)"	155255	10969942
ENSG00000107890	"ANKRD26, KIAA1074, THC2"	610855	"Thrombocytopenia 2, 188000 (3)"	188000	21211618
ENSG00000107951	MTPAP	613669	"?Spastic ataxia 4, autosomal recessive, 613672 (3)"	613672	20970105
ENSG00000107960	STN1	613128	"Cerebroretinal microangiopathy with calcifications and cysts 2, 617341 (3)"	617341	27432940
ENSG00000108001	EBF3	607407	"Hypotonia, ataxia, and delayed development syndrome, 617330 (3)"	617330	28017373
ENSG00000108055	SMC3	606062	"Cornelia de Lange syndrome 3, 610759 (3)"	610759	17273969
ENSG00000108061	"SHOC2, SIAA0862, SOC2, SUR8"	602775	"Noonan-like syndrome with loose anagen hair, 607721 (3)"	607721	19684605
ENSG00000108064	TFAM	600438	"?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156 (3)"	617156	27448789
ENSG00000108176	DNAJC12	606060	"Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3)"	617384	28132689
ENSG00000108231	LGI1	604619	"Epilepsy, familial temporal lobe, 1, 600512 (3)"	600512	11810107
ENSG00000108255	CRYBA1	123610	"Cataract 10, multiple types, 600881 (3)"	600881	9788845
ENSG00000108375	"RNF43, RNF124, SSPCS"	612482	"Sessile serrated polyposis cancer syndrome, 617108 (3)"	617108	24512911
ENSG00000108379	WNT3	165330	"?Tetra-amelia syndrome, 273395 (3)"	273395	14872406
ENSG00000108381	ASPA	608034	"Canavan disease, 271900 (3)"	271900	8252036
ENSG00000108384	RAD51C	602774	"Fanconi anemia, complementation group O, 613390 (3)"	613390	20400963
ENSG00000108395	"TRIM37, MUL, KIAA0898"	605073	"Mulibrey nanism, 253250 (3)"	253250	10888877
ENSG00000108433	GOSR2	604027	"Epilepsy, progressive myoclonic 6, 614018 (3)"	614018	21549339
ENSG00000108439	PNPO	603287	"Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)"	610090	15772097
ENSG00000108474	PIGL	605947	"CHIME syndrome, 280000 (3)"	280000	22444671
ENSG00000108479	GALK1	604313	"Galactokinase deficiency with cataracts, 230200 (3)"	230200	7670469
ENSG00000108515	ENO3	131370	"?Glycogen storage disease XIII, 612932 (3)"	612932	11506403
ENSG00000108518	PFN1	176610	"Amyotrophic lateral sclerosis 18, 614808 (3)"	614808	22801503
ENSG00000108556	"CHRNE, SCCMS, CMS4A, CMS4B, CMS4C"	100725	"Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)"	605809	7531341
ENSG00000108556	"CHRNE, SCCMS, CMS4A, CMS4B, CMS4C"	100725	"Myasthenic syndrome, congenital, 4B, fast-channel, 616324 (3)"	616324	8755487
ENSG00000108556	"CHRNE, SCCMS, CMS4A, CMS4B, CMS4C"	100725	"Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 (3)"	608931	8957026
ENSG00000108557	"RAI1, SMCR, SMS"	607642	"Smith-Magenis syndrome, 182290 (3)"	182290	8401506
ENSG00000108641	B9D1	614144	"?Meckel syndrome 9, 614209 (3)Joubert syndrome 27, 617120 (3)"	617120	24886560
ENSG00000108733	"PEX12, PBD3A"	601758	"Peroxisome biogenesis disorder 3A (Zellweger), 614859 (3)"	614859	9090384
ENSG00000108733	"PEX12, PBD3A"	601758	"Peroxisome biogenesis disorder 3B, 266510 (3)"	266510	15184617
ENSG00000108784	NAGLU	609701	"?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)"	616491	25818867
ENSG00000108784	"NAGLU, MPS3B, CMT2V"	609701	"Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)"	252920	8650226
ENSG00000108797	"CNTNAP1, CASPR, P190"	602346	"Lethal congenital contracture syndrome 7, 616286 (3)"	616286	24319099
ENSG00000108813	DLX4	601911	"?Orofacial cleft 15, 616788 (3)"	616788	25954033
ENSG00000108821	COL1A1	120150	"Caffey disease, 114000 (3)"	114000	15864348
ENSG00000108821	COL1A1	120150	"Ehlers-Danlos syndrome, type VIIA, 130060 (3)"	130060	2767050
ENSG00000108821	"COL1A1, OI1, OI2, OI3, OI4, EDSC"	120150	"Osteogenesis imperfecta, type I, 166200 (3)"	166200	4031065
ENSG00000108821	"COL1A1, OI1, OI2, OI3, OI4, EDSC"	120150	"Osteogenesis imperfecta, type II, 166210 (3)"	166210	6304100
ENSG00000108821	"COL1A1, OI1, OI2, OI3, OI4, EDSC"	120150	"Osteogenesis imperfecta, type III, 259420 (3)"	259420	2794057
ENSG00000108821	"COL1A1, OI1, OI2, OI3, OI4, EDSC"	120150	"Osteogenesis imperfecta, type IV, 166220 (3)"	166220	2745420
ENSG00000108823	"SGCA, ADL, DAG2, LGMD2D, DMDA2"	600119	"Muscular dystrophy, limb-girdle, type 2D, 608099 (3)"	608099	8069911
ENSG00000108883	"EFTUD2, KIAA0031, MFDGA"	603892	"Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)"	610536	22305528
ENSG00000108946	PRKAR1A	188830	"Acrodysostosis 1, with or without hormone resistance, 101800 (3)"	101800	21651393
ENSG00000108946	PRKAR1A	188830	"Carney complex, type 1, 160980 (3)"	160980	10973256
ENSG00000108946	"PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1"	188830	"Myxoma, intracardiac, 255960 (3)"	255960	10973256
ENSG00000108946	"PRKAR1A, TSE1, CNC1, CAR, PPNAD1, ACRDYS1"	188830	"Pigmented nodular adrenocortical disease, primary, 1, 610489 (3)"	610489	12213893
ENSG00000108950	FAM20A	611062	"Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)"	204690	21549343
ENSG00000108963	DPH1	603527	"Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)"	616901	25558065
ENSG00000109062	"SLC9A3R1, EBP50, NHERF1, NPHLOP2"	604990	"Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)"	612287	18784102
ENSG00000109063	MYH3	160720	"Arthrogryposis, distal, type 2A, 193700 (3)"	193700	16642020
ENSG00000109063	MYH3	160720	"Arthrogryposis, distal, type 8, 178110 (3)"	178110	25957469
ENSG00000109099	PMP22	601097	"?Neuropathy, inflammatory demyelinating, 139393 (3)"	139393	9818939
ENSG00000109099	PMP22	601097	"Charcot-Marie-Tooth disease, type 1A, 118220 (3)"	118220	1303281
ENSG00000109099	PMP22	601097	"Charcot-Marie-Tooth disease, type 1E, 118300 (3)"	118300	10330345
ENSG00000109099	"PMP22, CMT1A, CMT1E, DSS, CIDP"	601097	"Neuropathy, recurrent, with pressure palsies, 162500 (3)"	162500	8422677
ENSG00000109099	"PMP22, CMT1A, CMT1E, DSS, CIDP"	601097	"Roussy-Levy syndrome, 180800 (3)"	180800	9543325
ENSG00000109101	"FOXN1, WHN"	600838	"T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)"	601705	10206641
ENSG00000109103	UNC119	604011	"?Cone-rod dystrophy (3)?Immunodeficiency 13, 615518 (3)"	615518	22184408
ENSG00000109132	PHOX2B	603851	"Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)"	209880	12640453
ENSG00000109132	"PMX2B, NBPHOX, PHOX2B, NBLST2"	603851	"Neuroblastoma with Hirschsprung disease, 613013 (3)"	613013	15024693
ENSG00000109163	GNRHR	138850	"Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)"	146110	9371856
ENSG00000109320	NFKB1	164011	"Immunodeficiency, common variable, 12, 616576 (3)"	616576	26279205
ENSG00000109323	"MANBA, MANB1"	609489	"Mannosidosis, beta, 248510 (3)"	248510	9384606
ENSG00000109501	WFS1	606201	"?Cataract 41, 116400 (3)"	116400	23531866
ENSG00000109501	WFS1	606201	"Deafness, autosomal dominant 6/14/38, 600965 (3)"	600965	11709537
ENSG00000109501	"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41"	606201	"Wolfram syndrome, 222300 (3)"	222300	9817917
ENSG00000109501	"WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41"	606201	"Wolfram-like syndrome, autosomal dominant, 614296 (3)"	614296	12107816
ENSG00000109618	"SEPSECS, SLA, LP, PCH2D"	613009	"Pontocerebellar hypoplasia type 2D, 613811 (3)"	613811	20920667
ENSG00000109654	TRIM2	614141	"Charcot-Marie-Tooth disease, type 2R, 615490 (3)"	615490	23562820
ENSG00000109705	"NKX3-2, BAPX1, SMMD"	602183	"Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)"	613330	20004766
ENSG00000109738	GLRB	138492	"Hyperekplexia 2, autosomal recessive, 614619 (3)"	614619	11929858
ENSG00000109775	UFSP2	611482	"?Hip dysplasia, Beukes type, 142669 (3)"	142669	26428751
ENSG00000109846	CRYAB	123590	"Cardiomyopathy, dilated, 1II, 615184 (3)"	615184	16483541
ENSG00000109846	CRYAB	123590	"Cataract 16, multiple types, 613763 (3)"	613763	11577372
ENSG00000109846	"CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2"	123590	"Myopathy, myofibrillar, 2, 608810 (3)"	608810	9731540
ENSG00000109846	"CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2"	123590	"Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related, 613869 (3)"	613869	21337604
ENSG00000109861	CTSC	602365	"Haim-Munk syndrome, 245010 (3)"	245010	10662807
ENSG00000109861	"CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD"	602365	"Papillon-Lefevre syndrome, 245000 (3)"	245000	10581027
ENSG00000109861	"CTSC, CPPI, PALS, PLS, HMS, PDON1, JPD"	602365	"Periodontitis 1, juvenile, 170650 (3)"	170650	10662808
ENSG00000109906	"ZBTB16, ZNF145, PLZF"	176797	"Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)"	612447	18611983
ENSG00000109911	ELP4	606985	"?Aniridia 2, 617141 (3)"	617141	17679951
ENSG00000109927	TECTA	602574	"Deafness, autosomal dominant 8/12, 601543 (3)"	601543	9590290
ENSG00000109927	TECTA	602574	"Deafness, autosomal recessive 21, 603629 (3)"	603629	9949200
ENSG00000109929	"SC5DL, ERG3"	602286	"Lathosterolosis, 607330 (3)"	607330	12189593
ENSG00000110060	PUS3	616283	"?Mental retardation, autosomal recessive 55, 617051 (3)"	617051	27055666
ENSG00000110063	DCPS	610534	"Al-Raqad syndrome, 616459 (3)"	616459	25712129
ENSG00000110074	FOXRED1	613622	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	
ENSG00000110074	FOXRED1	613622	"Mitochondrial complex I deficiency, 252010 (3)"	252010	20818383
ENSG00000110090	CPT1A	600528	"CPT deficiency, hepatic, type IA, 255120 (3)"	255120	9691089
ENSG00000110195	FOLR1	136430	"Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)"	613068	19732866
ENSG00000110243	APOA5	606368	"Hyperchylomicronemia, late-onset, 144650 (3)"	144650	16200213
ENSG00000110245	APOC3	107720	"Apolipoprotein C-III deficiency, 614028 (3)"	614028	2022742
ENSG00000110274	"CEP164, KIAA1052"	614848	"Nephronophthisis 15, 614845 (3)"	614845	22863007
ENSG00000110324	IL10RA	146933	"Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)"	613148	19890111
ENSG00000110395	"CBL, CBL2, NSLL"	165360	"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 (3)"	613563	20619386
ENSG00000110400	"NECTIN1, PVRL1, HVEC, PVRR1, PRR1, ED4, OFC7, CLPED1"	600644	"Orofacial cleft 7, 225060 (3)"	225060	10932188
ENSG00000110435	PDX1	608769	"Lacticacidemia due to PDX1 deficiency, 245349 (3)"	245349	9399911
ENSG00000110436	SLC1A2	600300	"Epileptic encephalopathy, early infantile, 41, 617105 (3)"	617105	27476654
ENSG00000110651	CD81	186845	"Immunodeficiency, common variable, 6, 613496 (3)"	613496	20237408
ENSG00000110711	"AIP, XAP2, ARA9"	605555	"Pituitary adenoma, ACTH-secreting, 219090 (3)"	219090	25485838
ENSG00000110711	"AIP, XAP2, ARA9"	605555	"Pituitary adenoma, growth hormone-secreting, 102200 (3)"	102200	16728643
ENSG00000110711	"AIP, XAP2, ARA9"	605555	"Pituitary adenoma, prolactin-secreting, 600634 (3)"	600634	16728643
ENSG00000110717	NDUFS8	602141	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	9837812
ENSG00000110719	"TCIRG1, TIRC7, OC116, OPTB1"	604592	"Osteopetrosis, autosomal recessive 1, 259700 (3)"	259700	10888887
ENSG00000110723	EXPH5	612878	"Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)"	615028	23176819
ENSG00000110756	HPS5	607521	"Hermansky-Pudlak syndrome 5, 614074 (3)"	614074	12548288
ENSG00000110799	"VWF, F8VWF"	613160	"von Willebrand disease, type 1, 193400 (3)"	193400	8456432
ENSG00000110799	"VWF, F8VWF"	613160	"von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)"	613554	2385594
ENSG00000110799	"VWF, F8VWF"	613160	"von Willibrand disease, type 3, 277480 (3)"	277480	3258663
ENSG00000110911	SLC11A2	600523	"Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)"	206100	15459009
ENSG00000110921	MVK	251170	"Hyper-IgD syndrome, 260920 (3)"	260920	"10369262, 10369261"
ENSG00000110921	"MVK, MVLK, POROK3"	251170	"Mevalonic aciduria, 610377 (3)"	610377	12563048
ENSG00000110921	"MVK, MVLK, POROK3"	251170	"Porokeratosis 3, multiple types, 175900 (3)"	175900	22983302
ENSG00000111012	"CYP27B1, VDD1, PDDR"	609506	"Vitamin D-dependent rickets, type I, 264700 (3)"	264700	9486994
ENSG00000111046	"MYF6, CNM3"	159991	"Myopathy, centronuclear, 3, 614408 (3)"	614408	11053684
ENSG00000111199	TRPV4	605427	"?Avascular necrosis of femoral head, primary, 2, 617383 (3)"	617383	27330106
ENSG00000111199	TRPV4	605427	"Brachyolmia type 3, 113500 (3)"	113500	18587396
ENSG00000111199	TRPV4	605427	"Digital arthropathy-brachydactyly, familial, 606835 (3)"	606835	21964574
ENSG00000111199	TRPV4	605427	"Hereditary motor and sensory neuropathy, type IIc, 606071 (3)"	606071	20037588
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"Metatropic dysplasia, 156530 (3)"	156530	19232556
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"Parastremmatic dwarfism, 168400 (3)"	168400	20503319
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"Scapuloperoneal spinal muscular atrophy, 181405 (3)"	181405	20037587
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"SED, Maroteaux type, 184095 (3)"	184095	20503319
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)"	600175	20037588
ENSG00000111199	"TRPV4, VROAC, HMSN2C, CMT2C, SPSMA, SSQTL1, SMAL, BCYM3"	605427	"Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)"	184252	19232556
ENSG00000111262	KCNA1	176260	"Episodic ataxia/myokymia syndrome, 160120 (3)"	160120	7842011
ENSG00000111275	ALDH2	100650	"Alcohol sensitivity, acute, 610251 (3)"	610251	srsly???
ENSG00000111276	"CDKN1B, KIP1, CDKN4, MEN4"	600778	"Multiple endocrine neoplasia, type IV, 610755 (3)"	610755	17030811
ENSG00000111319	SCNN1A	600228	"Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)"	613021	19462466
ENSG00000111319	"SCNN1A, BESC2"	600228	"Pseudohypoaldosteronism, type I, 264350 (3)"	264350	8589714
ENSG00000111341	MGP	154870	"Keutel syndrome, 245150 (3)"	245150	9916809
ENSG00000111361	"EIF2B1, EIF2BA"	606686	"Leukoencephalopathy with vanishing white matter, 603896 (3)"	603896	11835386
ENSG00000111424	VDR	601769	"Rickets, vitamin D-resistant, type IIA, 277440 (3)"	277440	2849209
ENSG00000111537	IFNG	147570	"{Aplastic anemia}, 609135 (3)"	609135	15327519
ENSG00000111581	"NUP107, NUP84, NPHS11"	607617	"Nephrotic syndrome, type 11, 616730 (3)"	616730	26411495
ENSG00000111642	"CHD4, SIHIWES"	603277	"Sifrim-Hitz-Weiss syndrome, 617159 (3)"	617159	27479907
ENSG00000111664	"GNB3, CSNB1H"	139130	"Night blindness, congenital stationary, type 1H, 617024 (3)"	617024	27063057
ENSG00000111669	TPI1	190450	"Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)"	615512	2876430
ENSG00000111670	"GNPTAB, GNPTA"	607840	"Mucolipidosis II alpha/beta, 252500 (3)"	252500	15633164
ENSG00000111670	"GNPTAB, GNPTA"	607840	"Mucolipidosis III alpha/beta, 252600 (3)"	252600	15633164
ENSG00000111676	ATN1	607462	"Dentatorubro-pallidoluysian atrophy, 125370 (3)"	125370	8136840
ENSG00000111678	"C12orf57, C10, TEMTYS"	615140	"Temtamy syndrome, 218340 (3)"	218340	23453665
ENSG00000111713	GYS2	138571	"Glycogen storage disease 0, liver, 240600 (3)"	240600	9691087
ENSG00000111716	LDHB	150100	"[Lactate dehydrogenase-B deficiency], 614128 (3)"	614128	2334429
ENSG00000111732	AICDA	605257	"Immunodeficiency with hyper-IgM, type 2, 605258 (3)"	605258	11007475
ENSG00000111752	PHC1	602978	"?Microcephaly 11, primary, autosomal recessive, 615414 (3)"	615414	23418308
ENSG00000111775	COX6A1	602072	"Charcot-Marie-Tooth disease, recessive intermediate D, 616039 (3)"	616039	25152455
ENSG00000111799	COL12A1	120320	"?Ullrich congenital muscular dystrophy 2, 616470 (3)"	616470	24334604
ENSG00000111799	COL12A1	120320	"Bethlem myopathy 2, 616471 (3)"	616471	24334604
ENSG00000111802	"TDP2, TTRAP"	605764	"Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)"	616949	24658003
ENSG00000111817	DSE	605942	"?Ehlers-Danlos syndrome, musculocontractural type 2, 615539 (3)"	615539	23704329
ENSG00000111834	RSPH4A	612647	"Ciliary dyskinesia, primary, 11, 612649 (3)"	612649	19200523
ENSG00000111837	"MAK, RP62"	154235	"Retinitis pigmentosa 62, 614181 (3)"	614181	21825139
ENSG00000111846	GCNT2	600429	"Adult i phenotype without cataract, 110800 (3)"	110800	12424189
ENSG00000111846	GCNT2	600429	"Cataract 13 with adult i phenotype, 116700 (3)"	116700	11739194
ENSG00000111877	"MCM9, MCMDC1, ODG4"	610098	"Ovarian dysgenesis 4, 616185 (3)"	616185	25480036
ENSG00000111913	RIPOR2	611410	"?Deafness, autosomal recessive 104, 616515 (3)"	616515	24958875
ENSG00000112039	FANCE	613976	"Fanconi anemia, complementation group E, 600901 (3)"	600901	11001585
ENSG00000112041	"TULP1, RP14, LCA15"	602280	"Leber congenital amaurosis 15, 613843 (3)"	613843	15024725
ENSG00000112041	"TULP1, RP14, LCA15"	602280	"Retinitis pigmentosa 14, 600132 (3)"	600132	9462751
ENSG00000112053	"SLC26A8, TAT1, SPGF3"	608480	"Spermatogenic failure 3, 606766 (3)"	606766	23582645
ENSG00000112077	RHAG	180297	"Anemia, hemolytic, Rh-null, regulator type, 268150 (3)"	268150	8563755
ENSG00000112077	"RHAG, RH50A, OHST"	180297	"Overhydrated hereditary stomatocytosis, 185000 (3)"	185000	18931342
ENSG00000112116	IL17F	606496	"?Candidiasis, familial, 6, autosomal dominant, 613956 (3)"	613956	21350122
ENSG00000112144	ICK	612325	"Endocrine-cerebroosteodysplasia, 612651 (3)"	612651	19185282
ENSG00000112210	RAB23	606144	"Carpenter syndrome, 201000 (3)"	201000	17503333
ENSG00000112234	"FBXL4, FBL4, MTDPS13"	605654	"Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)"	615471	23993193
ENSG00000112276	BVES	604577	"?Muscular dystrophy, limb-girdle, type 2X, 616812 (3)"	616812	26642364
ENSG00000112280	COL9A1	120210	"?Epiphyseal dysplasia, multiple, 6, 614135 (3)"	614135	11565064
ENSG00000112280	"COL9A1, EDM6, STL4"	120210	"Stickler syndrome, type IV, 614134 (3)"	614134	16909383
ENSG00000112282	"MED23, MRT18"	605042	"Mental retardation, autosomal recessive 18, 614249 (3)"	614249	21868677
ENSG00000112294	"ALDH5A1, SSADH"	610045	"Succinic semialdehyde dehydrogenase deficiency, 271980 (3)"	271980	9683595
ENSG00000112312	"GMNN, MGORS6"	602842	"Meier-Gorlin syndrome 6, 616835 (3)"	616835	26637980
ENSG00000112319	EYA4	603550	"Cardiomyopathy, dilated, 1J, 605362 (3)"	605362	10769282
ENSG00000112319	EYA4	603550	"Deafness, autosomal dominant 10, 601316 (3)"	601316	11159937
ENSG00000112320	"SOBP, JXC1, MRAMS"	613667	"Mental retardation, anterior maxillary protrusion, and strabismus, 613671 (3)"	613671	21035105
ENSG00000112357	"PEX7, RCDP1, PBD9B"	601757	"Peroxisome biogenesis disorder 9B, 614879 (3)"	614879	12325024
ENSG00000112357	"PEX7, RCDP1, PBD9B"	601757	"Rhizomelic chondrodysplasia punctata, type 1, 215100 (3)"	215100	"9090381, 9090382, 9090383"
ENSG00000112365	ZBTB24	614064	"Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)"	614069	21596365
ENSG00000112367	FIG4	609390	"?Polymicrogyria, bilateral temporooccipital, 612691 (3)"	612691	24598713
ENSG00000112367	FIG4	609390	"Amyotrophic lateral sclerosis 11, 612577 (3)"	612577	19118816
ENSG00000112367	FIG4	609390	"Charcot-Marie-Tooth disease, type 4J, 611228 (3)"	611228	17572665
ENSG00000112367	"FIG4, KIAA0274, SAC3, ALS11, YVS, BTOP"	609390	"Yunis-Varon syndrome, 216340 (3)"	216340	23623387
ENSG00000112414	"ADGRG6, PR126, VIGR, LCCS9"	612243	"Lethal congenital contracture syndrome 9, 616503 (3)"	616503	26004201
ENSG00000112425	EPM2A	607566	"Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)"	254780	9771710
ENSG00000112541	PDE10A	610652	"Dyskinesia, limb and orofacial, infantile-onset, 616921 (3)"	616921	27058446
ENSG00000112541	"PDE10A, IOLOD, ADSD2"	610652	"Striatal degeneration, autosomal dominant, 616922 (3)"	616922	27058447
ENSG00000112562	SMOC2	607223	"Dentin dysplasia, type I, with microdontia and misshapen teeth, 125400 (3)"	125400	22152679
ENSG00000112592	"TBP, SCA17, HDL4"	600075	"Spinocerebellar ataxia 17, 607136 (3)"	607136	10484774
ENSG00000112599	"GUCA1B, GCAP2, GUCA2, RP48"	602275	"Retinitis pigmentosa 48, 613827 (3)"	613827	15452722
ENSG00000112619	PRPH2	179605	"Choriodal dystrophy, central areolar 2, 613105 (3)"	613105	8485576
ENSG00000112619	"PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1"	179605	"Leber congenital amaurosis 18, 608133 (3)"	608133	1749427
ENSG00000112619	"PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1"	179605	"Macular dystrophy, patterned, 1, 169150 (3)"	169150	8251014
ENSG00000112619	"PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1"	179605	"Macular dystrophy, vitelliform, 3, 608161 (3)"	608161	8485576
ENSG00000112619	"PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1"	179605	"Retinitis pigmentosa 7 and digenic, 608133 (3)"	608133	1749427
ENSG00000112619	"PRPH2, DS, RP7, PRPH, AVMD, AOFMD, CACD2, MDBS1"	179605	"Retinitis punctata albescens, 136880 (3)"	136880	1749427
ENSG00000112640	"PPP2R5D, MRD35"	601646	"Mental retardation, autosomal dominant 35, 616355 (3)"	616355	25533962
ENSG00000112706	"IMPG1, IPM150, VMD4"	602870	"Macular dystrophy, vitelliform, 4, 616151 (3)"	616151	23993198
ENSG00000112761	WISP3	603400	"Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)"	208230	10471507
ENSG00000112761	"WISP3, PPAC, PPD"	603400	"Spondyloepiphyseal dysplasia tarda with progressive arthropathy, 208230 (3)"	208230	10471507
ENSG00000112769	LAMA4	600133	"Cardiomyopathy, dilated, 1JJ, 615235 (3)"	615235	17646580
ENSG00000112782	CLIC5	607293	"?Deafness, autosomal recessive 103, 616042 (3)"	616042	24781754
ENSG00000112837	TBX18	604613	"Congenital anomalies of kidney and urinary tract 2, 143400 (3)"	143400	26235987
ENSG00000112855	HARS2	600783	"?Perrault syndrome 2, 614926 (3)"	614926	21464306
ENSG00000112936	C7	217070	"C7 deficiency, 610102 (3)"	610102	"8892662, 8871666"
ENSG00000112964	GHR	600946	"Growth hormone insensitivity, partial, 604271 (3)"	604271	7565946
ENSG00000112964	"GHR, GHIP"	600946	"Laron dwarfism, 262500 (3)"	262500	8488849
ENSG00000112992	NNT	607878	"Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)"	614736	22634753
ENSG00000113013	HSPA9	600548	"Anemia, sideroblastic, 4, 182170 (3)"	182170	26491070
ENSG00000113013	HSPA9	600548	"Even-plus syndrome, 616854 (3)"	616854	26598328
ENSG00000113083	LOX	153455	"Aortic aneurysm, familial thoracic 10, 617168 (3)"	617168	26838787
ENSG00000113140	"SPARC, ON, OI17"	182120	"Osteogenesis imperfecta, type XVII, 616507 (3)"	616507	26027498
ENSG00000113163	"COL4A3BP, GPBP, CERT, MRD34"	604677	"Mental retardation, autosomal dominant 34, 616351 (3)"	616351	25533962
ENSG00000113231	"PDE8B, PPNAD3, ADSD"	603390	"Pigmented nodular adrenocortical disease, primary, 3, 614190 (3)"	614190	18272904
ENSG00000113231	"PDE8B, PPNAD3, ADSD"	603390	"Striatal degeneration, autosomal dominant, 609161 (3)"	609161	20085714
ENSG00000113262	"GRM6, MGLUR6, CSNB1B"	604096	"Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)"	257270	15781871
ENSG00000113263	"ITK, EMT, LPFS1"	186973	"Lymphoproliferative syndrome 1, 613011 (3)"	613011	19425169
ENSG00000113273	"ARSB, MPS6"	611542	"Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)"	253200	1718978
ENSG00000113302	IL12B	161561	"Immunodeficiency 29, mycobacteriosis, 614890 (3)"	614890	9854038
ENSG00000113318	MSH3	600887	"Familial adenomatous polyposis 4, 617100 (3)"	617100	27476653
ENSG00000113327	GABRG2	137164	"Epilepsy, generalized, with febrile seizures plus, type 3, 611277 (3)"	611277	11326274
ENSG00000113327	GABRG2	137164	"Febrile seizures, familial, 8, 611277 (3)"	611277	11326274
ENSG00000113368	"LMNB1, ADLD"	150340	"Leukodystrophy, adult-onset, autosomal dominant, 169500 (3)"	169500	16951681
ENSG00000113448	PDE4D	600129	"Acrodysostosis 2, with or without hormone resistance, 614613 (3)"	614613	22464250
ENSG00000113494	PRLR	176761	"?Hyperprolactinemia, 615555 (3)"	615555	24195502
ENSG00000113494	"PRLR, MFAB, HPRL"	176761	"Multiple fibroadenomas of the breast, 615554 (3)"	615554	18779591
ENSG00000113522	"RAD50, NBSLD"	604040	"Nijmegen breakage syndrome-like disorder, 613078 (3)"	613078	19409520
ENSG00000113569	NUP155	606694	"?Atrial fibrillation 15, 615770 (3)"	615770	19070573
ENSG00000113580	NR3C1	138040	"Glucocorticoid resistance, 615962 (3)"	615962	1704018
ENSG00000113594	"LIFR, STWS, SWS, SJS2"	151443	"Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)"	601559	14740318
ENSG00000113600	C9	120940	"C9 deficiency, 613825 (3)"	613825	9144525
ENSG00000113643	"RARS, HLD9"	107820	"Leukodystrophy, hypomyelinating, 9, 616140 (3)"	616140	24777941
ENSG00000113721	PDGFRB	173410	"Basal ganglia calcification, idiopathic, 4, 615007 (3)"	615007	23255827
ENSG00000113721	"PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS"	173410	"Kosaki overgrowth syndrome, 616592 (3)"	616592	25454926
ENSG00000113721	"PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS"	173410	"Myofibromatosis, infantile, 1, 228550 (3)"	228550	23731537
ENSG00000113721	"PDGFRB, PDGFR, IBGC4, IMF1, PENTT, KOGS"	173410	"Premature aging syndrome, Penttinen type, 601812 (3)"	601812	26279204
ENSG00000113790	EHHADH	607037	"?Fanconi renotubular syndrome 3, 615605 (3)"	615605	24401050
ENSG00000113851	"CRBN, MRT2"	609262	"Mental retardation, autosomal recessive 2, 607417 (3)"	607417	15557513
ENSG00000113889	KNG1	612358	"[High molecular weight kininogen deficiency], 228960 (3)"	228960	12576314
ENSG00000113889	KNG1	612358	"[Kininogen deficiency], 228960 (3)"	228960	7901207
ENSG00000113905	"HRG, THPH11"	142640	"Thrombophilia due to elevated HRG, 613116 (1)"	613116	9414276
ENSG00000113905	"HRG, THPH11"	142640	"Thrombophilia due to HRG deficiency, 613116 (3)"	613116	9414276
ENSG00000113924	HGD	607474	"Alkaptonuria, 203500 (3)"	203500	8782815
ENSG00000113946	CLDN16	603959	"Hypomagnesemia 3, renal, 248250 (3)"	248250	10390358
ENSG00000113966	ARL6	608845	"?Retinitis pigmentosa 55, 613575 (3)"	613575	19956407
ENSG00000113966	ARL6	608845	"Bardet-Biedl syndrome 3, 600151 (3)"	600151	"15258860, 15314642"
ENSG00000113971	"NPHP3, NPH3, RHPD1, MKS7"	608002	"Meckel syndrome 7, 267010 (3)"	267010	18371931
ENSG00000113971	"NPHP3, NPH3, RHPD1, MKS7"	608002	"Nephronophthisis 3, 604387 (3)"	604387	12872122
ENSG00000113971	"NPHP3, NPH3, RHPD1, MKS7"	608002	"Renal-hepatic-pancreatic dysplasia 1, 208540 (3)"	208540	18371931
ENSG00000114054	PCCB	232050	"Propionicacidemia, 606054 (3)"	606054	8188292
ENSG00000114062	UBE3A	601623	"Angelman syndrome, 105830 (3)"	105830	8988171
ENSG00000114209	PDCD10	609118	"Cerebral cavernous malformations 3, 603285 (3)"	603285	15543491
ENSG00000114251	WNT5A	164975	"Robinow syndrome, autosomal dominant 1, 180700 (3)"	180700	19918918
ENSG00000114270	COL7A1	120120	"EBD inversa, 226600 (3)"	226600	8513326
ENSG00000114270	COL7A1	120120	"EBD, Bart type, 132000 (3)"	132000	8618021
ENSG00000114270	COL7A1	120120	"Epidermolysis bullosa dystrophica, AD, 131750 (3)"	131750	8170945
ENSG00000114270	COL7A1	120120	"Epidermolysis bullosa dystrophica, AR, 226600 (3)"	226600	8513326
ENSG00000114270	COL7A1	120120	"Epidermolysis bullosa pruriginosa, 604129 (3)"	604129	9182828
ENSG00000114270	COL7A1	120120	"Epidermolysis bullosa, pretibial, 131850 (3)"	131850	8541842
ENSG00000114270	"COL7A1, NDNC8"	120120	"Toenail dystrophy, isolated, 607523 (3)"	607523	9856844
ENSG00000114270	"COL7A1, NDNC8"	120120	"Transient bullous of the newborn, 131705 (3)"	131705	9406826
ENSG00000114279	FGF12	601513	"?Epileptic encephalopathy, early infantile, 47, 617166 (3)"	617166	27164707
ENSG00000114349	GNAT1	139330	"?Night blindness, congenital stationary, type 1G, 616389 (3)"	616389	22190596
ENSG00000114349	"GNAT1, CSNBAD3, CSNB1G"	139330	"Night blindness, congenital stationary, autosomal dominant 3, 610444 (3)"	610444	8673138
ENSG00000114354	TFG	602498	"?Spastic paraplegia 57, autosomal recessive, 615658 (3)"	615658	23479643
ENSG00000114354	TFG	602498	"Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3)"	604484	22883144
ENSG00000114374	"USP9Y, DFFRY, SPGFY2"	400005	"Spermatogenic failure, Y-linked, 2, 415000 (3)"	415000	8269511
ENSG00000114378	HYAL1	607071	"?Mucopolysaccharidosis type IX, 601492 (3)"	601492	10339581
ENSG00000114388	NPRL2	607072	"Epilepsy, familial focal, with variable foci 2, 617116 (3)"	617116	26505888
ENSG00000114450	GNB4	610863	"Charcot-Marie-Tooth disease, dominant intermediate F, 615185 (3)"	615185	23434117
ENSG00000114480	GBE1	607839	"Glycogen storage disease IV, 232500 (3)"	232500	8613547
ENSG00000114480	"GBE1, GSD4, APBD"	607839	"Polyglucosan body disease, adult form, 263570 (3)"	263570	9851430
ENSG00000114491	"UMPS, OPRT"	613891	"Orotic aciduria, 258900 (3)"	258900	9042911
ENSG00000114573	ATP6V1A	607027	"Cutis laxa, autosomal recessive, type IID, 617403 (3)"	617403	28065471
ENSG00000114686	MRPL3	607118	"Combined oxidative phosphorylation deficiency 9, 614582 (3)"	614582	21786366
ENSG00000114738	MAPKAPK3	602130	"?Macular dystrophy, patterned, 3, 617111 (3)"	617111	26744326
ENSG00000114739	ACVR2B	602730	"Heterotaxy, visceral, 4, autosomal, 613751 (3)"	613751	9916847
ENSG00000114796	KLHL24	611295	"Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294 (3)"	617294	27798626
ENSG00000114854	TNNC1	191040	"Cardiomyopathy, dilated, 1Z, 611879 (3)"	611879	15542288
ENSG00000114859	"CLCN2, EGMA, ECA2, EGI11, EJM8, LKPAT"	600570	"Leukoencephalopathy with ataxia, 615651 (3)"	615651	23707145
ENSG00000114861	"FOXP1, QRF1"	605515	"Mental retardation with language impairment and with or without autistic features, 613670 (3)"	613670	20950788
ENSG00000114867	"EIF4G1, EIF4G, PARK18"	600495	"{Parkinson disease 18}, 614251 (3)"	614251	21907011
ENSG00000114956	"DGUOK, DGK, MTDPS3, PEOB4, NCPH"	601465	"Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)"	251880	11687800
ENSG00000114956	"DGUOK, DGK, MTDPS3, PEOB4, NCPH"	601465	"Portal hypertension, noncirrhotic, 617068 (3)"	617068	26874653
ENSG00000114956	"DGUOK, DGK, MTDPS3, PEOB4, NCPH"	601465	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)"	617070	23043144
ENSG00000114988	LMAN2L	609552	"?Mental retardation, autosomal recessive, 52, 616887 (3)"	616887	26566883
ENSG00000115020	PIKFYVE	609414	"Corneal fleck dystrophy, 121850 (3)"	121850	15902656
ENSG00000115085	ZAP70	176947	"Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)"	617006	26783323
ENSG00000115085	ZAP70	176947	"Immunodeficiency 48, 269840 (3)"	269840	8124727
ENSG00000115107	STEAP3	609671	"?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)"	615234	22031863
ENSG00000115138	POMC	176830	"Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)"	609734	9620771
ENSG00000115155	OTOF	603681	"Auditory neuropathy, autosomal recessive, 1, 601071 (3)"	601071	10192385
ENSG00000115155	OTOF	603681	"Deafness, autosomal recessive 9, 601071 (3)"	601071	10192385
ENSG00000115170	ACVR1	102576	"Fibrodysplasia ossificans progressiva, 135100 (3)"	135100	16642017
ENSG00000115204	"MPV17, MTDPS6"	137960	"Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)"	256810	16582910
ENSG00000115211	EIF2B4	606687	"Leukoencephaly with vanishing white matter, 603896 (3)"	603896	15054402
ENSG00000115211	EIF2B4	606687	"Ovarioleukodystrophy, 603896 (3)"	603896	14566705
ENSG00000115221	ITGB6	147558	"Amelogenesis imperfecta, type IH, 616221 (3)"	616221	24305999
ENSG00000115255	"REEP6, DP1L1, TB2L1, C19orf32, RP77"	609346	"Retinitis pigmentosa 77, 617304 (3)"	617304	27889058
ENSG00000115266	APC2	612034	"?Sotos syndrome 3, 617169 (3)"	617169	25753423
ENSG00000115267	IFIH1	606951	"Aicardi-Goutieres syndrome 7, 615846 (3)"	615846	24686847
ENSG00000115267	"IFIH1, MDA5, AGS7, SGMRT1"	606951	"Singleton-Merten syndrome 1, 182250 (3)"	182250	25620204
ENSG00000115275	MOGS	601336	"Congenital disorder of glycosylation, type IIb, 606056 (3)"	606056	10788335
ENSG00000115286	"NDUFS7, PSST"	601825	"Leigh syndrome, 256000 (3)"	256000	10330338
ENSG00000115317	HTRA2	606441	"3-methylglutaconic aciduria, type VIII, 617248 (3)"	617248	27208207
ENSG00000115317	"HTRA2, OMI, PARK13, PRSS25, MGCA8"	606441	"{Parkinson disease 13}, 610297 (3)"	610297	15961413
ENSG00000115339	"GALNT3, HHS, HFTC"	601756	"Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)"	211900	15133511
ENSG00000115355	"CCDC88A, KIAA1212, HKRP1, GIRDIN, APE, GIV, PEHO"	609736	"PEHO syndrome, 260565 (3)"	260565	28335020
ENSG00000115380	EFEMP1	601548	"Doyne honeycomb degeneration of retina, 126600 (3)"	126600	10369267
ENSG00000115392	FANCL	608111	"Fanconi anemia, complementation group L, 614083 (3)"	614083	12973351
ENSG00000115414	FN1	135600	"Glomerulopathy with fibronectin deposits 2, 601894 (3)"	601894	18268355
ENSG00000115414	"FN1, FN, LETS, FNZ, GFND2"	135600	"Plasma fibronectin deficiency, 614101 (1)"	614101	2869211
ENSG00000115415	STAT1	600555	"Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3)"	614892	11452125
ENSG00000115415	STAT1	600555	"Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3)"	613796	12590259
ENSG00000115415	STAT1	600555	"Immunodeficiency 31C, autosomal dominant, 614162 (3)"	614162	21714643
ENSG00000115459	ELMOD3	615427	"?Deafness, autosomal recessive 88, 615429 (3)"	615429	24039609
ENSG00000115474	"KCNJ13, SVD, LCA16"	603208	"Leber congenital amaurosis 16, 614186 (3)"	614186	21763485
ENSG00000115474	"KCNJ13, SVD, LCA16"	603208	"Snowflake vitreoretinal degeneration, 193230 (3)"	193230	18179896
ENSG00000115486	"GGCX, VKCFD1"	137167	"Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)"	610842	17110937
ENSG00000115486	"GGCX, VKCFD1"	137167	"Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)"	277450	9845520
ENSG00000115525	"SIAT9, ST3GALV, SPDRS"	604402	"Salt and pepper developmental regression syndrome, 609056 (3)"	609056	15502825
ENSG00000115648	MLPH	606526	"Griscelli syndrome, type 3, 609227 (3)"	609227	12897212
ENSG00000115657	ABCB6	605452	"Dyschromatosis universalis hereditaria 3, 615402 (3)"	615402	23519333
ENSG00000115657	"ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2"	605452	"Microphthalmia, isolated, with coloboma 7, 614497 (3)"	614497	22226084
ENSG00000115657	"ABCB6, MTABC3, MCOPCB7, LAN, DUH3, PSHK2"	605452	"Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)"	609153	23180570
ENSG00000115665	"SLC5A7, CHT1, HMN7A, CMS20"	608761	"Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3)"	617143	27569547
ENSG00000115665	"SLC5A7, CHT1, HMN7A, CMS20"	608761	"Neuronopathy, distal hereditary motor, type VIIA, 158580 (3)"	158580	23141292
ENSG00000115705	"TPO, TPX, TDH2A"	606765	"Thyroid dyshormonogenesis 2A, 274500 (3)"	274500	1401057
ENSG00000115718	"PROC, PC, THPH3, THPH4"	612283	"Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3)"	176860	2437584
ENSG00000115718	"PROC, PC, THPH3, THPH4"	612283	"Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)"	612304	10942114
ENSG00000115827	"DCAF17, C20orf37"	612515	"Woodhouse-Sakati syndrome, 241080 (3)"	241080	19026396
ENSG00000115839	"RAB3GAP1, WARBM1, P130"	602536	"Warburg micro syndrome 1, 600118 (3)"	600118	15696165
ENSG00000115840	SLC25A12	603667	"Epileptic encephalopathy, early infantile, 39, 612949 (3)"	612949	19641205
ENSG00000115850	"LCT, LAC, LPH"	603202	"Lactase deficiency, congenital, 223000 (3)"	223000	11788828
ENSG00000115866	DARS	603084	"Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)"	615281	23643384
ENSG00000115902	"SLC1A4, SATT, ASCT1, SPATCCM"	600229	"Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)"	616657	25930971
ENSG00000115904	SOS1	182530	"?Fibromatosis, gingival, 1, 135300 (3)"	135300	11868160
ENSG00000115904	"SOS1, GINGF, GF1, HGF, NS4"	182530	"Noonan syndrome 4, 610733 (3)"	610733	"17143285, 17143282"
ENSG00000115919	KYNU	605197	"?Hydroxykynureninuria, 236800 (3)"	236800	17334708
ENSG00000115935	WIPF1	602357	"?Wiskott-Aldrich syndrome 2, 614493 (3)"	614493	22231303
ENSG00000115947	"ORC4, ORC4L"	603056	"Meier-Gorlin syndrome 2, 613800 (3)"	613800	21358632
ENSG00000116001	"TIA1, WDM"	603518	"Welander distal myopathy, 604454 (3)"	604454	23401021
ENSG00000116014	KISS1R	604161	"?Precocious puberty, central, 1, 176400 (3)"	176400	18272894
ENSG00000116014	KISS1R	604161	"Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)"	614837	14573733
ENSG00000116016	EPAS1	603349	"Erythrocytosis, familial, 4, 611783 (3)"	611783	18184961
ENSG00000116030	"SUMO1, UBL1, SMT3, OFC10"	601912	"Orofacial cleft 10, 613705 (3)"	613705	16990542
ENSG00000116031	CD207	604862	"?[Birbeck granule deficiency], 613393 (3)"	613393	15816828
ENSG00000116039	"ATP6B1, VPP3"	192132	"Renal tubular acidosis with deafness, 267300 (3)"	267300	9916796
ENSG00000116062	"MSH6, GTBP, HNPCC5"	600678	"Mismatch repair cancer syndrome, 276300 (3)"	276300	17557300
ENSG00000116096	SPR	182125	"Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)"	612716	11443547
ENSG00000116127	ALMS1	606844	"Alstrom syndrome, 203800 (3)"	203800	11941369
ENSG00000116132	PRRX1	167420	"Agnathia-otocephaly complex, 202650 (3)"	202650	21294718
ENSG00000116133	DHCR24	606418	"Desmosterolosis, 602398 (3)"	602398	11519011
ENSG00000116171	SCP2	184755	"Leukoencephalopathy with dystonia and motor neuropathy, 613724 (3)"	613724	16685654
ENSG00000116198	CEP104	616690	"Joubert syndrome 25, 616781 (3)"	616781	26477546
ENSG00000116218	"PDCN, NPHS2, SRN1"	604766	"Nephrotic syndrome, type 2, 600995 (3)"	600995	10742096
ENSG00000116288	"DJ1, PARK7"	602533	"Parkinson disease 7, autosomal recessive early-onset, 606324 (3)"	606324	12446870
ENSG00000116337	AMPD2	102771	"?Spastic paraplegia 63, 615686 (3)"	615686	24482476
ENSG00000116337	"AMPD2, SPG63, PCH9"	102771	"Pontocerebellar hypoplasia, type 9, 615809 (3)"	615809	23911318
ENSG00000116353	MECR	608205	"Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)"	617282	27817865
ENSG00000116586	LAMTOR2	610389	"Immunodeficiency due to defect in MAPBP-interacting protein, 610798 (3)"	610798	17195838
ENSG00000116641	DOCK7	615730	"Epileptic encephalopathy, early infantile, 23, 615859 (3)"	615859	24814191
ENSG00000116670	MAD2L2	604094	"?Fanconi anemia, complementation group V, 617243 (3)"	617243	27500492
ENSG00000116675	"DNAJC6, DJC6, KIAA0473, PARK19"	608375	"Parkinson disease 19a, juvenile-onset, 615528 (3)"	615528	22563501
ENSG00000116675	"DNAJC6, DJC6, KIAA0473, PARK19"	608375	"Parkinson disease 19b, early-onset, 615528 (3)"	615528	26528954
ENSG00000116678	"LEPR, OBR, LEPRD"	601007	"Obesity, morbid, due to leptin receptor deficiency, 614963 (3)"	614963	9537324
ENSG00000116688	MFN2	608507	"Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260 (3)"	609260	15064763
ENSG00000116688	MFN2	608507	"Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)"	617087	18458227
ENSG00000116688	MFN2	608507	"Hereditary motor and sensory neuropathy VIA, 601152 (3)"	601152	16437557
ENSG00000116690	PRG4	604283	"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)"	208250	10545950
ENSG00000116701	NCF2	608515	"Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)"	233710	2770793
ENSG00000116704	"SLC35D1, UGTREL7, KIAA0260"	610804	"Schneckenbecken dysplasia, 269250 (3)"	269250	17952091
ENSG00000116745	"RPE65, RP20, LCA2"	180069	"Leber congenital amaurosis 2, 204100 (3)"	204100	9326927
ENSG00000116745	"RPE65, RP20, LCA2"	180069	"Retinitis pigmentosa 20, 613794 (3)"	613794	9326941
ENSG00000116748	"AMPD1, MMDD"	102770	"Myopathy due to myoadenylate deaminase deficiency, 615511 (3)"	615511	1631143
ENSG00000116761	CTH	607657	"Cystathioninuria, 219500 (3)Homocysteine, total plasma, elevated (3)"	219500	12574942
ENSG00000116783	TNNI3K	613932	"?Cardiac conduction disease with or without dilated cardiomyopathy, 616117 (3)"	616117	24925317
ENSG00000116906	"GNPAT, DHAPAT, RCDP2"	602744	"Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)"	222765	9536089
ENSG00000116957	TBCE	604934	"Encephalopathy, progressive, with amyotrophy and optic atrophy, 617207 (3)"	617207	27666369
ENSG00000116957	TBCE	604934	"Hypoparathyroidism-retardation-dysmorphism syndrome, 241410 (3)"	241410	12389028
ENSG00000116957	"TBCE, KCS, KCS1, HRD, PEAMO"	604934	"Kenny-Caffey syndrome, type 1, 244460 (3)"	244460	12389028
ENSG00000116984	MTR	156570	"Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)"	250940	8968736
ENSG00000117013	KCNQ4	603537	"Deafness, autosomal dominant 2A, 600101 (3)"	600101	10025409
ENSG00000117054	ACADM	607008	"Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3)"	201450	2393404
ENSG00000117118	SDHB	185470	"Cowden syndrome 2, 612359 (3)"	612359	18678321
ENSG00000117118	"SDHB, SDH2, SDHIP, PGL4, CWS2"	185470	"Paraganglioma and gastric stromal sarcoma, 606864 (3)"	606864	17804857
ENSG00000117118	"SDHB, SDH2, SDHIP, PGL4, CWS2"	185470	"Paragangliomas 4, 115310 (3)"	115310	11404820
ENSG00000117118	"SDHB, SDH2, SDHIP, PGL4, CWS2"	185470	"Pheochromocytoma, 171300 (3)"	171300	20503330
ENSG00000117298	ECE1	600423	"?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)"	613870	9915973
ENSG00000117305	HMGCL	613898	"HMG-CoA lyase deficiency, 246450 (3)"	246450	8440722
ENSG00000117308	GALE	606953	"Galactose epimerase deficiency, 230350 (3)"	230350	9700591
ENSG00000117322	CR2	120650	"Immunodeficiency, common variable, 7, 614699 (3)"	614699	22035880
ENSG00000117360	"PRPF3, HPRP3, RP18"	607301	"Retinitis pigmentosa 18, 601414 (3)"	601414	11773002
ENSG00000117385	"P3H1, LEPRE1, GROS1, OI8"	610339	"Osteogenesis imperfecta, type VIII, 610915 (3)"	610915	17277775
ENSG00000117394	SLC2A1	138140	"Dystonia 9, 601042 (3)"	601042	21832227
ENSG00000117394	SLC2A1	138140	"GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)"	606777	9462754
ENSG00000117394	SLC2A1	138140	"GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)"	612126	18451999
ENSG00000117394	"SLC2A1, GLUT1, HTLVR, DYT18, PED, GLUT1DS, EIG12, DYT9, SDCHCN"	138140	"Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)"	608885	21791420
ENSG00000117400	"MPL, TPOR, MPLV, THCYT2"	159530	"Thrombocythemia 2, 601977 (3)"	601977	16868251
ENSG00000117400	"MPL, TPOR, MPLV, THCYT2"	159530	"Thrombocytopenia, congenital amegakaryocytic, 604498 (3)"	604498	10077649
ENSG00000117479	"SLC19A2, THTR1, TRMA, THMD1"	603941	"Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)"	249270	10391221
ENSG00000117528	ABCD3	170995	"?Bile acid synthesis defect, congenital, 5, 616278 (3)"	616278	25168382
ENSG00000117560	FASLG	134638	"Autoimmune lymphoproliferative syndrome, type IB, 601859 (3)"	601859	8787672
ENSG00000117593	"DARS2, ASPRS. LBSL"	610956	"Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)"	611105	17384640
ENSG00000117594	HSD11B1	600713	"Cortisone reductase deficiency 2, 614662 (3)"	614662	21325058
ENSG00000117595	"IRF6, VWS, LPS, PIT, PPS1, OFC6"	607199	"{Orofacial cleft 6}, 608864 (3)"	608864	18836445
ENSG00000117595	"IRF6, VWS, LPS, PIT, PPS1, OFC6"	607199	"Popliteal pterygium syndrome 1, 119500 (3)"	119500	12219090
ENSG00000117595	"IRF6, VWS, LPS, PIT, PPS1, OFC6"	607199	"van der Woude syndrome, 119300 (3)"	119300	11668635
ENSG00000117601	"SERPINC1, AT3, AT3D, THPH7"	107300	"Thrombophilia due to antithrombin III deficiency, 613118 (3)"	613118	3055413
ENSG00000117620	SLC35A3	605632	"?Arthrogryposis, mental retardation, and seizures, 615553 (3)"	615553	24031089
ENSG00000117650	NEK2	604043	"?Retinitis pigmentosa 67, 615565 (3)"	615565	24043777
ENSG00000117682	"DHDDS, HDS, RP59"	608172	"Retinitis pigmentosa 59, 613861 (3)"	613861	21295283
ENSG00000117713	ARID1A	603024	"Coffin-Siris syndrome 2, 614607 (3)"	614607	22426308
ENSG00000117724	"CENPF, CILD31, STROMS"	600236	"Stromme syndrome, 243605 (3)"	243605	25564561
ENSG00000117984	CTSD	116840	"Ceroid lipofuscinosis, neuronal, 10, 610127 (3)"	610127	16685649
ENSG00000118004	COLEC11	612502	"3MC syndrome 2, 265050 (3)"	265050	21258343
ENSG00000118046	"STK11, PJS, LKB1"	602216	"Peutz-Jeghers syndrome, 175200 (3)"	175200	9425897
ENSG00000118058	"KMT2A, MLL, HRX, HTRX1, WDSTS"	159555	"Wiedemann-Steiner syndrome, 605130 (3)"	605130	22795537
ENSG00000118137	APOA1	107680	"Amyloidosis, 3 or more types, 105200 (3)"	105200	12050338
ENSG00000118137	APOA1	107680	"Hypoalphalipoproteinemia, 604091 (3)"	604091	10431236
ENSG00000118162	"KPTN, 2E4, MRT41"	615620	"Mental retardation, autosomal recessive 41, 615637 (3)"	615637	24239382
ENSG00000118193	KIF14	611279	"?Meckel syndrome 12, 616258 (3)"	616258	24128419
ENSG00000118194	TNNT2	191045	"Cardiomyopathy, dilated, 1D, 601494 (3)"	601494	11106718
ENSG00000118194	TNNT2	191045	"Cardiomyopathy, familial restrictive, 3, 612422 (3)"	612422	16651346
ENSG00000118194	"TNNT2, CMH2, CMD1D, RCM3, LVNC6"	191045	"Left ventricular noncompaction 6, 601494 (3)"	601494	11106718
ENSG00000118197	"DDX59, OFD5"	615464	"Orofaciodigital syndrome V, 174300 (3)"	174300	23972372
ENSG00000118217	ATF6	605537	"Achromatopsia 7, 616517 (3)"	616517	"26029869, 26063662"
ENSG00000118231	CRYGD	123690	"Cataract 4, multiple types, 115700 (3)"	115700	9927684
ENSG00000118271	TTR	176300	"Amyloidosis, hereditary, transthyretin-related, 105210 (3)"	105210	6736244
ENSG00000118271	TTR	176300	"Carpal tunnel syndrome, familial, 115430 (3)"	115430	16433699
ENSG00000118271	TTR	176300	"[Dystransthyretinemic hyperthyroxinemia], 145680 (3)"	145680	1979335
ENSG00000118402	ELOVL4	605512	"?Spinocerebellar ataxia 34, 133190 (3)"	133190	24566826
ENSG00000118402	ELOVL4	605512	"Ichthyosis, spastic quadriplegia, and mental retardation, 614457 (3)"	614457	22100072
ENSG00000118402	"ELOVL4, ADMD, STGD2, STGD3, ISQMR, SCA34"	605512	"Stargardt disease 3, 600110 (3)"	600110	11138005
ENSG00000118503	TNFAIP3	191163	"Autoinflammatory syndrome, familial, Behcet-like, 616744 (3)"	616744	26642243
ENSG00000118520	ARG1	608313	"Argininemia, 207800 (3)"	207800	2365823
ENSG00000118600	"TMEM5, MDDGA10"	605862	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3)"	615041	23217329
ENSG00000118702	GHRH	139190	?Isolated growth hormone deficiency due to defect in GHRF (1)Gigantism due to GHRF hypersecretion (1)		
ENSG00000118729	CASQ2	114251	"Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)"	611938	11704930
ENSG00000118762	PKD2	173910	"Polycystic kidney disease 2, 613095 (3)"	613095	8650545
ENSG00000118777	ABCG2	603756	"[Junior blood group system], 614490 (3)"	614490	22246507
ENSG00000118873	"RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2"	609275	"Martsolf syndrome, 212720 (3)"	212720	16532399
ENSG00000118873	"RAB3GAP2, RAB3GAP150, p150, KIAA0839, WARBM2"	609275	"Warburg micro syndrome 2, 614225 (3)"	614225	20967465
ENSG00000118965	WDR35	613602	"Cranioectodermal dysplasia 2, 613610 (3)"	613610	20817137
ENSG00000118965	"WDR35, NAOFEN, KIAA1336, CED2, SRTD7"	613602	"Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)"	614091	21473986
ENSG00000118971	"CCND2, MPPH3"	123833	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)"	615938	24705253
ENSG00000118972	FGF23	605380	"Hypophosphatemic rickets, autosomal dominant, 193100 (3)"	193100	11062477
ENSG00000118972	"FGF23, ADHR, HPDR2, PHPTC"	605380	"Tumoral calcinosis, hyperphosphatemic, familial, 211900 (3)"	211900	15590700
ENSG00000119013	NDUFB3	603839	"Mitochondrial complex I deficiency, 252010 (3)"	252010	22277967
ENSG00000119042	SATB2	608148	"Glass syndrome, 612313 (3)"	612313	17377962
ENSG00000119121	TRPM6	607009	"Hypomagnesemia 1, intestinal, 602014 (3)"	602014	"12032568, 12032570"
ENSG00000119139	TJP2	607709	"Cholestasis, progressive familial intrahepatic 4, 615878 (3)"	615878	24614073
ENSG00000119333	"WDR34, SRTD11"	613363	"Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)"	615633	24183449
ENSG00000119392	GLE1	603371	"Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)"	611890	18204449
ENSG00000119392	"GLE1, GLE1L, LCCS, LCCS1"	603371	"Lethal congenital contracture syndrome 1, 253310 (3)"	253310	18204449
ENSG00000119401	TRIM32	602290	"?Bardet-Biedl syndrome 11, 615988 (3)"	615988	16606853
ENSG00000119401	"TRIM32, HT2A, LGMD2H, BBS11"	602290	"Muscular dystrophy, limb-girdle, type 2H, 254110 (3)"	254110	11822024
ENSG00000119509	"INVS, INV, NPHP2, NPH2"	243305	"Nephronophthisis 2, infantile, 602088 (3)"	602088	12872123
ENSG00000119523	ALG2	607905	"?Congenital disorder of glycosylation, type Ii, 607906 (3)"	607906	12684507
ENSG00000119523	"ALG2, CDGII, CMSTA3, CMS14"	607905	"Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)"	616228	23404334
ENSG00000119535	"CSF3R, GCSFR, SCN7"	138971	"Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)"	617014	24753537
ENSG00000119614	"CHX10, HOX10, MCOP2, MCOPCB3"	142993	"Microphthalmia with coloboma 3, 610092 (3)"	610092	10932181
ENSG00000119614	"CHX10, HOX10, MCOP2, MCOPCB3"	142993	"Microphthalmia, isolated 2, 610093 (3)"	610093	15257456
ENSG00000119638	NEK9	609798	"?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)"	614262	26633546
ENSG00000119638	"NEK9, NERCC1, LCCS10, APUG, NC"	609798	"Lethal congenital contracture syndrome 10, 617022 (3)"	617022	26908619
ENSG00000119650	IFT43	614068	"Cranioectodermal dysplasia 3, 614099 (3)"	614099	21378380
ENSG00000119655	"NPC2, HE1"	601015	"Niemann-pick disease, type C2, 607625 (3)"	607625	11125141
ENSG00000119661	DNAL1	610062	"Ciliary dyskinesia, primary, 16, 614017 (3)"	614017	21496787
ENSG00000119681	"LTBP2, LTBP3, GLC3D, MSPKA, WMS3"	602091	"Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)"	251750	20617341
ENSG00000119681	"LTBP2, LTBP3, GLC3D, MSPKA, WMS3"	602091	"Weill-Marchesani syndrome 3, recessive, 614819 (3)"	614819	22539340
ENSG00000119685	TTLL5	612268	"Cone-rod dystrophy 19, 615860 (3)"	615860	24791901
ENSG00000119686	"FLVCR2, C14orf58, CCT, PVHH, EPV"	610865	"Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)"	225790	20206334
ENSG00000119688	"ABCD4, PXMP1L, P79R, PMP69, MAHCJ"	603214	"Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)"	614857	22922874
ENSG00000119699	TGFB3	190230	"Arrhythmogenic right ventricular dysplasia 1, 107970 (3)"	107970	15639475
ENSG00000119699	"TGFB3, ARVD1, RNHF, LDS5"	190230	"Loeys-Dietz syndrome 5, 615582 (3)"	615582	23824657
ENSG00000119711	"ALDH6A1, MMSDH"	603178	"Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3)"	614105	10947204
ENSG00000119714	GPR68	601404	"Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 (3)"	617217	27693231
ENSG00000119715	ESRRB	602167	"Deafness, autosomal recessive 35, 608565 (3)"	608565	18179891
ENSG00000119718	EIF2B2	606454	"Leukoencephalopathy with vanishing white matter, 603896 (3)"	603896	19625339
ENSG00000119718	EIF2B2	606454	"Ovarioleukodystrophy, 603896 (3)"	603896	11704758
ENSG00000119723	COQ6	614647	"Coenzyme Q10 deficiency, primary, 6, 614650 (3)"	614650	21540551
ENSG00000119772	"DNMT3A, TBRS"	602769	"Tatton-Brown-Rahman syndrome, 615879 (3)"	615879	24614070
ENSG00000119866	BCL11A	606557	"Dias-Logan syndrome, 617101 (3)"	617101	27453576
ENSG00000119878	"CRIPT, SSMDF"	604594	"Short stature with microcephaly and distinctive facies, 615789 (3)"	615789	24389050
ENSG00000119888	EPCAM	185535	"Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)"	613217	18572020
ENSG00000119899	"SLC17A5, SIASD, SLD"	604322	"Salla disease, 604369 (3)"	604369	10581036
ENSG00000119899	"SLC17A5, SIASD, SLD"	604322	"Sialic acid storage disorder, infantile, 269920 (3)"	269920	10581036
ENSG00000119969	HELLS	603946	"Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3)"	616911	26216346
ENSG00000119977	TCTN3	613847	"Joubert syndrome 18, 614815 (3)"	614815	22883145
ENSG00000119977	"TCTN3, TECT3, C10orf61, OFD4, JBTS18"	613847	"Orofaciodigital syndrome IV, 258860 (3)"	258860	22883145
ENSG00000120008	WDR11	606417	"Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)"	614858	20887964
ENSG00000120053	GOT1	138180	"Aspartate aminotransferase, serum level of, QTL1, 614419 (3)"	614419	21900944
ENSG00000120054	CPN1	603103	"Carboxypeptidase N deficiency, 212070 (3)"	212070	12560874
ENSG00000120071	"KANSL1, KIAA1267, MSL1V1, KDVS"	612452	"Koolen-De Vries syndrome, 610443 (3)"	610443	22544367
ENSG00000120094	HOXB1	142968	"Facial paresis, hereditary congenital, 3, 614744 (3)"	614744	22770981
ENSG00000120149	MSX2	123101	"Craniosynostosis 2, 604757 (3)"	604757	8106171
ENSG00000120149	"MSX2, CRS2, HOX8"	123101	"Parietal foramina 1, 168500 (3)"	168500	10742103
ENSG00000120149	"MSX2, CRS2, HOX8"	123101	"Parietal foramina with cleidocranial dysplasia, 168550 (3)"	168550	14571277
ENSG00000120156	"TEK, TIE2, VMCM, GLC3E"	600221	"Venous malformations, multiple cutaneous and mucosal, 600195 (3)"	600195	8980225
ENSG00000120370	GORAB	607983	"Geroderma osteodysplasticum, 231070 (3)"	231070	18997784
ENSG00000120437	ACAT2	100678	"?ACAT2 deficiency, 614055 (1)"	614055	20597
ENSG00000120457	KCNJ5	600734	"Hyperaldosteronism, familial, type III, 613677 (3)"	613677	21311022
ENSG00000120457	"KCNJ5, GIRK4, KATP1, LQT13"	600734	"Long QT syndrome 13, 613485 (3)"	613485	20560207
ENSG00000120498	"TEX11, SPGFX2"	300311	"Spermatogenic failure, X-linked, 2, 309120 (3)"	309120	25970010
ENSG00000120659	"TNFSF11, OPGL, TRANCE, OPTB2"	602642	"Osteopetrosis, autosomal recessive 2, 259710 (3)"	259710	17632511
ENSG00000120693	"MADH9, SMAD9, MADH6, PPH2"	603295	"Pulmonary hypertension, primary, 2, 615342 (3)"	615342	19211612
ENSG00000120699	"EXOSC8, OIP2, RRP43, PCH1C"	606019	"Pontocerebellar hypoplasia, type 1C, 616081 (3)"	616081	24989451
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, Avellino type, 607541 (3)"	607541	9054935
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, Groenouw type I, 121900 (3)"	121900	9054935
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, Reis-Bucklers type, 608470 (3)"	608470	9054935
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, Thiel-Behnke type, 602082 (3)"	602082	9054935
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, epithelial basement membrane, 121820 (3)"	121820	16652336
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, lattice type I, 122200 (3)"	122200	9054935
ENSG00000120708	TGFBI	601692	"Corneal dystrophy, lattice type IIIA, 608471 (3)"	608471	9497262
ENSG00000120725	"SIL1, BAP, MSS"	608005	"Marinesco-Sjogren syndrome, 248800 (3)"	248800	16282978
ENSG00000120729	"MYOT, TTOD, MFM3"	604103	"Muscular dystrophy, limb-girdle, type 1A, 159000 (3)"	159000	10958653
ENSG00000120729	"MYOT, TTOD, MFM3"	604103	"Myopathy, myofibrillar, 3, 609200 (3)"	609200	15111675
ENSG00000120729	"MYOT, TTOD, MFM3"	604103	"Myopathy, spheroid body, 182920 (3)"	182920	16380616
ENSG00000120889	"TNFRSF10B, DR5, TRAILR2"	603612	"Squamous cell carcinoma, head and neck, 275355 (3)"	275355	9721851
ENSG00000120903	CHRNA2	118502	"Epilepsy, nocturnal frontal lobe, type 4, 610353 (3)"	610353	16826524
ENSG00000120925	RNF170	614649	"Ataxia, sensory, 1, autosomal dominant, 608984 (3)"	608984	21115467
ENSG00000120942	UBIAD1	611632	"Corneal dystrophy, Schnyder type, 121800 (3)"	121800	17668063
ENSG00000120948	TARDBP	605078	"Amyotrophic lateral sclerosis 10, with or without FTD, 612069 (3)"	612069	18309045
ENSG00000120948	TARDBP	605078	"Frontotemporal lobar degeneration, TARDBP-related, 612069 (3)"	612069	20697052
ENSG00000121053	EPX	131399	"[Eosinophil peroxidase deficiency], 261500 (3)"	261500	7809065
ENSG00000121075	TBX4	601719	"Ischiocoxopodopatellar syndrome, 147891 (3)"	147891	15106123
ENSG00000121207	"LRAT, LCA14"	604863	"Leber congenital amaurosis 14, 613341 (3)"	613341	17011878
ENSG00000121207	"LRAT, LCA14"	604863	"Retinal dystrophy, early-onset severe, 613341 (3)"	613341	11381255
ENSG00000121207	"LRAT, LCA14"	604863	"Retinitis pigmentosa, juvenile, 613341 (3)"	613341	18055821
ENSG00000121350	"PYROXD1, MFM8"	617220	"Myopathy, myofibrillar, 8, 617258 (3)"	617258	27745833
ENSG00000121454	"LHX4, CPHD4"	602146	"Pituitary hormone deficiency, combined, 4, 262700 (3)"	262700	11567216
ENSG00000121552	"CSTA, STFA, STF1, AREI, PSS4"	184600	"Peeling skin syndrome 4, 607936 (3)"	607936	21944047
ENSG00000121634	GJA8	600897	"Cataract 1, multiple types, 116200 (3)"	116200	9497259
ENSG00000121680	"PEX16, PBD8A, PBD8B"	603360	"Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)"	614876	9837814
ENSG00000121680	"PEX16, PBD8A, PBD8B"	603360	"Peroxisome biogenesis disorder 8B, 614877 (3)"	614877	20647552
ENSG00000121691	CAT	115500	"Acatalasemia, 614097 (3)"	614097	2308162
ENSG00000121742	GJB6	604418	"Deafness, autosomal dominant 3B, 612643 (3)"	612643	10471490
ENSG00000121742	GJB6	604418	"Deafness, autosomal recessive 1B, 612645 (3)"	612645	11807148
ENSG00000121742	GJB6	604418	"Ectodermal dysplasia 2, Clouston type, 129500 (3)"	129500	11017065
ENSG00000121743	GJA3	121015	"Cataract 14, multiple types, 601885 (3)"	601885	10205266
ENSG00000121853	GHSR	601898	"Growth hormone deficiency, isolated partial, 615925 (3)"	615925	16511605
ENSG00000121879	PIK3CA	171834	"Cowden syndrome 5, 615108 (3)"	615108	23246288
ENSG00000121897	LIAS	607031	"Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)"	614462	22152680
ENSG00000121905	HPCA	142622	"Dystonia 2, torsion, autosomal recessive, 224500 (3)"	224500	25799108
ENSG00000121957	GPSM2	609245	"Chudley-McCullough syndrome, 604213 (3)"	604213	20602914
ENSG00000121966	"CXCR4, D2S201E, NPY3R, WHIMS"	162643	"WHIM syndrome, 193670 (3)"	193670	12692554
ENSG00000122026	RPL21	603636	"Hypotrichosis 12, 615885 (3)"	615885	21412954
ENSG00000122126	OCRL	300535	"Dent disease 2, 300555 (3)"	300555	15627218
ENSG00000122126	"OCRL, LOCR, OCRL1, NPHL2"	300535	"Lowe syndrome, 309000 (3)"	309000	9199559
ENSG00000122145	TBX22	300307	"?Abruzzo-Erickson syndrome, 302905 (3)"	302905	22784330
ENSG00000122145	TBX22	300307	"Cleft palate with ankyloglossia, 303400 (3)"	303400	11559848
ENSG00000122194	PLG	173350	"Dysplasminogenemia, 217090 (3)"	217090	9242524
ENSG00000122194	PLG	173350	"Plasminogen deficiency, type I, 217090 (3)"	217090	9242524
ENSG00000122218	"COPA, AILJK"	601924	"{Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)"	616414	25894502
ENSG00000122335	SERAC1	614725	"3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)"	614739	22683713
ENSG00000122367	LDB3	605906	"Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)"	601493	14662268
ENSG00000122367	"LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3"	605906	"Left ventricular noncompaction 3, 601493 (3)"	601493	14662268
ENSG00000122367	"LDB3, ZASP, CYPHER, KIAA01613, MFM4, CMD1C, CMH24, LVNC3"	605906	"Myopathy, myofibrillar, 4, 609452 (3)"	609452	15668942
ENSG00000122406	RPL5	603634	"Diamond-Blackfan anemia 6, 612561 (3)"	612561	19061985
ENSG00000122482	"ZNF644, MYP21"	614159	"Myopia 21, autosomal dominant, 614167 (3)"	614167	21695231
ENSG00000122507	BBS9	607968	"Bardet-Biedl syndrome 9, 615986 (3)"	615986	16380913
ENSG00000122512	"PMS2, PMSL2, HNPCC4"	600259	"Mismatch repair cancer syndrome, 276300 (3)"	276300	17557300
ENSG00000122550	KLHL7	611119	"Cold-induced sweating syndrome 3, 617055 (3)"	617055	27392078
ENSG00000122550	"KLHL7, RP42, CISS3"	611119	"Retinitis pigmentosa 42, 612943 (3)"	612943	19520207
ENSG00000122566	HNRNPA2B1	600124	"?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, 615422 (3)"	615422	23455423
ENSG00000122591	"FAM126A, DRCTNNB1A, HLD5"	610531	"Leukodystrophy, hypomyelinating, 5, 610532 (3)"	610532	16951682
ENSG00000122643	NT5C3A	606224	"Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)"	266120	11369620
ENSG00000122691	TWIST1	601622	"Craniosynostosis 1, 123100 (3)"	123100	17343269
ENSG00000122691	"TWIST1, ACS3, SCS, CRS1"	601622	"Robinow-Sorauf syndrome, 180750 (3)"	180750	10465122
ENSG00000122691	"TWIST1, ACS3, SCS, CRS1"	601622	"Saethre-Chotzen syndrome with eyelid anomalies, 101400 (3)"	101400	11977182
ENSG00000122691	"TWIST1, ACS3, SCS, CRS1"	601622	"Saethre-Chotzen syndrome, 101400 (3)"	101400	"8988166, 8988167"
ENSG00000122735	DNAI1	604366	"Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)"	244400	10577904
ENSG00000122787	AKR1D1	604741	"Bile acid synthesis defect, congenital, 2, 235555 (3)"	235555	12970144
ENSG00000122859	NEUROG3	604882	"Diarrhea 4, malabsorptive, congenital, 610370 (3)"	610370	16855267
ENSG00000122861	"PLAU, URK, QPD, BDPLT5"	191840	"Quebec platelet disorder, 601709 (3)"	601709	20007542
ENSG00000122863	"CHST3, C6ST, C6ST1, HSD"	603799	"Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)"	143095	15215498
ENSG00000122877	EGR2	129010	"Charcot-Marie-Tooth disease, type 1D, 607678 (3)"	607678	9537424
ENSG00000122877	"EGR2, KROX20"	129010	"Neuropathy, congenital hypomyelinating, 1, 605253 (3)"	605253	9537424
ENSG00000122966	"CIT, STK21, CRIK, MCPH17"	605629	"Microcephaly 17, primary, autosomal recessive, 617090 (3)"	617090	27453578
ENSG00000122971	ACADS	606885	"Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)"	201470	2808706
ENSG00000123066	"MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD"	608771	"Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)"	616789	23403903
ENSG00000123066	"MED13L, THRAP2, PROSIT240, TRAP240L, KIAA1025, MRFACD"	608771	"Transposition of the great arteries, dextro-looped 1, 608808 (3)"	608808	14638541
ENSG00000123104	ITPR2	600144	"?Anhidrosis, isolated, with normal sweat glands, 106190 (3)"	106190	25329695
ENSG00000123191	"ATP7B, WND"	606882	"Wilson disease, 277900 (3)"	277900	8298639
ENSG00000123240	OPTN	602432	"Amyotrophic lateral sclerosis 12, 613435 (3)"	613435	20428114
ENSG00000123297	TSFM	604723	"Combined oxidative phosphorylation deficiency 3, 610505 (3)"	610505	17033963
ENSG00000123342	MMP19	601807	"Cavitary optic disc anomalies, 611543 (3)"	611543	25581579
ENSG00000123364	HOXC13	142976	"Ectodermal dysplasia 9, hair/nail type, 614931 (3)"	614931	23063621
ENSG00000123384	LRP1	107770	"?Keratosis pilaris atrophicans, 604093 (3)"	604093	26142438
ENSG00000123453	SARDH	604455	"[Sarcosinemia], 268900 (3)"	268900	22825317
ENSG00000123454	DBH	609312	"Dopamine beta-hydroxylase deficiency, 223360 (3)"	223360	11857564
ENSG00000123473	"STIL, SIL, MCPH7"	181590	"Microcephaly 7, primary, autosomal recessive, 612703 (3)"	612703	19215732
ENSG00000123500	COL10A1	120110	"Metaphyseal chondrodysplasia, Schmid type, 156500 (3)"	156500	8220429
ENSG00000123545	"NDUFAF4, HRPAP20, C6orf66"	611776	"Mitochondrial complex I deficiency, 252010 (3)"	252010	19463981
ENSG00000123560	"PLP1, PMD, HLD1, SPG2"	300401	"Pelizaeus-Merzbacher disease, 312080 (3)"	312080	2773936
ENSG00000123560	"PLP1, PMD, HLD1, SPG2"	300401	"Spastic paraplegia 2, X-linked, 312920 (3)"	312920	8012387
ENSG00000123607	"TTC21B, THM1, NPHP12, SRTD4, ATD4"	612014	"Nephronophthisis 12, 613820 (3)"	613820	21258341
ENSG00000123607	"TTC21B, THM1, NPHP12, SRTD4, ATD4"	612014	"Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)"	613819	21258341
ENSG00000123700	KCNJ2	600681	"Andersen syndrome, 170390 (3)"	170390	11371347
ENSG00000123700	KCNJ2	600681	"Atrial fibrillation, familial, 9, 613980 (3)"	613980	15922306
ENSG00000123700	"KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9"	600681	"Short QT syndrome 3, 609622 (3)"	609622	15761194
ENSG00000123810	"B9D2, MKS10"	611951	"Meckel syndrome 10, 614175 (3)"	614175	21763481
ENSG00000123815	"COQ8B, ADCK4, NPHS9"	615567	"Nephrotic syndrome, type 9, 615573 (3)"	615573	24270420
ENSG00000124006	OBSL1	610991	"3-M syndrome 2, 612921 (3)"	612921	19481195
ENSG00000124140	SLC12A5	606726	"Epileptic encephalopathy, early infantile, 34, 616645 (3)"	616645	26333769
ENSG00000124155	PIGT	610272	"?Paroxysmal nocturnal hemoglobinuria 2, 615399 (3)"	615399	23733340
ENSG00000124155	"PIGT, NDAP, PNH2, MCAHS3"	610272	"Multiple congenital anomalies-hypotonia-seizures syndrome 3, 615398 (3)"	615398	23636107
ENSG00000124164	VAPB	605704	"Amyotrophic lateral sclerosis 8, 608627 (3)"	608627	15372378
ENSG00000124164	"VAPB, VAPC, ALS8"	605704	"Spinal muscular atrophy, late-onset, Finkel type, 182980 (3)"	182980	15372378
ENSG00000124172	ATP5E	606153	"?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)"	614053	20566710
ENSG00000124198	"ARFGEF2, BIG2, PVNH2"	605371	"Periventricular heterotopia with microcephaly, 608097 (3)"	608097	14647276
ENSG00000124205	"EDN3, WS4B, HSCR4"	131242	"Waardenburg syndrome, type 4B, 613265 (3)"	613265	8630502
ENSG00000124222	"STX16, SYN16"	603666	"Pseudohypoparathyroidism, type IB, 603233 (3)"	603233	14561710
ENSG00000124253	PCK1	614168	"?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency, 261680 (1)"	261680	179269
ENSG00000124275	MTRR	602568	"Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)"	236270	9501215
ENSG00000124299	PEPD	613230	"Prolidase deficiency, 170100 (3)"	170100	1972707
ENSG00000124302	CHST8	610190	"?Peeling skin syndrome 3, 616265 (3)"	616265	22289416
ENSG00000124313	"IQSEC2, KIAA0522, MRX1, MRX78"	300522	"Mental retardation, X-linked 1/78, 309530 (3)"	309530	20473311
ENSG00000124356	"STAMBP, AMSH, MICCAP"	606247	"Microcephaly-capillary malformation syndrome, 614261 (3)"	614261	23542699
ENSG00000124370	MCEE	608419	"Methylmalonyl-CoA epimerase deficiency, 251120 (3)"	251120	16752391
ENSG00000124429	"FLJ22792, POF1B, POF2B"	300603	"Premature ovarian failure 2B, 300604 (3)"	300604	16773570
ENSG00000124479	NDP	300658	"Exudative vitreoretinopathy 2, X-linked, 305390 (3)"	305390	8252044
ENSG00000124479	"NDP, ND, EVR2"	300658	"Norrie disease, 310600 (3)"	310600	1307245
ENSG00000124486	"USP9X, DFFRX, MRX99, MRXS99F"	300072	"Mental retardation, X-linked 99, 300919 (3)"	300919	24607389
ENSG00000124486	"USP9X, DFFRX, MRX99, MRXS99F"	300072	"Mental retardation, X-linked 99, syndromic, female-restricted, 300968 (3)"	300968	26833328
ENSG00000124491	F13A1	134570	"Factor XIIIA deficiency, 613225 (3)"	613225	2895980
ENSG00000124570	SERPINB6	173321	"?Deafness, autosomal recessive 91, 613453 (3)"	613453	20451170
ENSG00000124587	PEX6	601498	"Heimler syndrome 2, 616617 (3)"	616617	26387595
ENSG00000124587	"PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2"	601498	"Peroxisome biogenesis disorder 4A (Zellweger), 614862 (3)"	614862	8670792
ENSG00000124587	"PEX6, PXAAA1, PAF2, PBD4A, PDB4B, HMLR2"	601498	"Peroxisome biogenesis disorder 4B, 614863 (3)"	614863	11355018
ENSG00000124608	AARS2	612035	"Combined oxidative phosphorylation deficiency 8, 614096 (3)"	614096	21549344
ENSG00000124608	"AARS2, KIAA1270, MTALARS, COXPD8, LKENP"	612035	"Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)"	615889	24808023
ENSG00000124614	RPS10	603632	"Diamond-Blackfan anemia 9, 613308 (3)"	613308	20116044
ENSG00000124615	"MOCS1, MOCODA"	603707	"Molybdenum cofactor deficiency A, 252150 (3)"	252150	9731530
ENSG00000124713	GNMT	606628	"Glycine N-methyltransferase deficiency, 606664 (3)"	606664	11810299
ENSG00000124788	"ATXN1, ATX1, SCA1"	601556	"Spinocerebellar ataxia 1, 164400 (3)"	164400	7951322
ENSG00000124813	RUNX2	600211	"Cleidocranial dysplasia, 119600 (3)"	119600	9182765
ENSG00000124813	RUNX2	600211	"Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3)"	119600	9182765
ENSG00000124813	RUNX2	600211	"Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3)"	119600	9182765
ENSG00000124813	"RUNX2, CBFA1, PEBP2A1, AML3, CCD, CLCD"	600211	"Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3)"	156510	23290074
ENSG00000124827	GCM2	603716	"Hyperparathyroidism 4, 617343 (3)"	617343	27745835
ENSG00000125084	"WNT1, INT1, OI15, BMND16"	164820	"Osteogenesis imperfecta, type XV, 615220 (3)"	615220	23499309
ENSG00000125124	BBS2	606151	"Bardet-Biedl syndrome 2, 615981 (3)"	615981	11285252
ENSG00000125124	"BBS2, RP74"	606151	"Retinitis pigmentosa 74, 616562 (3)"	616562	25541840
ENSG00000125255	SLC10A2	601295	"Bile acid malabsorption, primary, 613291 (3)"	613291	9109432
ENSG00000125351	"UPF3B, RENT3B, MRXS14"	300298	"Mental retardation, X-linked, syndromic 14, 300676 (3)"	300676	17704778
ENSG00000125352	RNF113A	300951	"?Trichothiodystrophy 5, nonphotosensitive, 300953 (3)"	300953	25612912
ENSG00000125356	"NDUFA1, MWFE"	300078	"Mitochondrial complex I deficiency, 252010 (3)"	252010	15293270
ENSG00000125363	AMELX	300391	"Amelogenesis imperfecta, type 1E, 301200 (3)"	301200	1916828
ENSG00000125378	"BMP4, BMP2B1, BMP2B, MCOPS6, OFC11"	112262	"Microphthalmia, syndromic 6, 607932 (3)"	607932	18252212
ENSG00000125378	"BMP4, BMP2B1, BMP2B, MCOPS6, OFC11"	112262	"Orofacial cleft 11, 600625 (3)"	600625	19249007
ENSG00000125398	SOX9	608160	"Acampomelic campomelic dysplasia, 114290 (3)"	114290	19449405
ENSG00000125398	SOX9	608160	"Campomelic dysplasia with autosomal sex reversal, 114290 (3)"	114290	8001137
ENSG00000125398	SOX9	608160	"Campomelic dysplasia, 114290 (3)"	114290	7990924
ENSG00000125414	"MYH2, MYPOP"	160740	"Proximal myopathy and ophthalmoplegia, 605637 (3)"	605637	11114175
ENSG00000125454	"SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4"	606521	"Microcephaly, Amish type, 607196 (3)"	607196	12185364
ENSG00000125454	"SLC25A19, DNC, MUP1, MCPHA, THMD3, THMD4"	606521	"Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)"	613710	19798730
ENSG00000125656	"CLPP, PRLTS3, DFNB81"	601119	"Perrault syndrome 3, 614129 (3)"	614129	23541340
ENSG00000125675	"GRIA3, GLUR3, MRX94"	305915	"Mental retardation, X-linked 94, 300699 (3)"	300699	17989220
ENSG00000125676	"THOC2, THO2, MRX12, MRX35"	300395	"Mental retardation, X-linked 12/35, 300957 (3)"	300957	26166480
ENSG00000125730	C3	120700	"C3 deficiency, 613779 (3)"	613779	1976733
ENSG00000125730	"C3, ARMD9, AHUS5"	120700	"{Macular degeneration, age-related, 9}, 611378 (3)"	611378	17634448
ENSG00000125741	OPA3	606580	"3-methylglutaconic aciduria, type III, 258501 (3)"	258501	11668429
ENSG00000125741	"OPA3, MGA3"	606580	"Optic atrophy 3 with cataract, 165300 (3)"	165300	15342707
ENSG00000125744	"RTN2, NSPL1, SPG12"	603183	"Spastic paraplegia 12, autosomal dominant, 604805 (3)"	604805	22232211
ENSG00000125779	PANK2	606157	"HARP syndrome, 607236 (3)"	607236	12058097
ENSG00000125779	"PANK2, NBIA1, PKAN, HARP"	606157	"Neurodegeneration with brain iron accumulation 1, 234200 (3)"	234200	11479594
ENSG00000125780	TGM3	600238	"?Uncombable hair syndrome 2, 617251 (3)"	617251	27866708
ENSG00000125813	PAX1	167411	"?Otofaciocervical syndrome 2, 615560 (3)"	615560	23851939
ENSG00000125826	"RBCK1, HOIL1, PGBM1, PBMEI"	610924	"Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)"	615895	23104095
ENSG00000125835	SNRPB	182282	"Cerebrocostomandibular syndrome, 117650 (3)"	117650	25047197
ENSG00000125848	FLRT3	604808	"Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3)"	615271	23643382
ENSG00000125850	OVOL2	616441	"Corneal dystrophy, posterior polymorphous, 1, 122000 (3)"	122000	26749309
ENSG00000125863	MKKS	604896	"Bardet-Biedl syndrome 6, 605231 (3)"	605231	10973238
ENSG00000125863	"MKKS, HMCS, KMS, MKS, BBS6"	604896	"McKusick-Kaufman syndrome, 236700 (3)"	236700	10802661
ENSG00000125864	BFSP1	603307	"Cataract 33, 611391 (3)"	611391	17225135
ENSG00000125871	"MGME1, C20orf72, MTDPS11"	615076	"Mitochondrial DNA depletion syndrome 11, 615084 (3)"	615084	23313956
ENSG00000125875	"TBC1D20, C20orf140, WARBM4"	611663	"Warburg micro syndrome 4, 615663 (3)"	615663	24239381
ENSG00000125877	ITPA	147520	"Epileptic encephalopathy, early infantile, 35, 616647 (3)"	616647	26224535
ENSG00000125885	MCM8	608187	"?Premature ovarian failure 10, 612885 (3)"	612885	25437880
ENSG00000125965	GDF5	601146	"?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3)"	201250	8589725
ENSG00000125965	GDF5	601146	"Brachydactyly, type A1, C, 615072 (3)"	615072	20683927
ENSG00000125965	GDF5	601146	"Brachydactyly, type C, 113100 (3)"	113100	9288091
ENSG00000125965	GDF5	601146	"Chondrodysplasia, Grebe type, 200700 (3)"	200700	9288098
ENSG00000125965	GDF5	601146	"Du Pan syndrome, 228900 (3)"	228900	12121354
ENSG00000125965	"GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B"	601146	"{Osteoarthritis-5}, 612400 (3)"	612400	17384641
ENSG00000125965	"GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B"	601146	"Multiple synostoses syndrome 2, 610017 (3)"	610017	16532400
ENSG00000125965	"GDF5, CDMP1, SYNS2, OS5, BDA1C, SYM1B"	601146	"Symphalangism, proximal, 1B, 615298 (3)"	615298	16127465
ENSG00000126012	"KDM5C, JARID1C, SMCX, DXS1272E, XE169, MRXSCJ"	314690	"Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)"	300534	15586325
ENSG00000126088	UROD	613521	"Porphyria cutanea tarda, 176100 (3)"	176100	2920211
ENSG00000126088	UROD	613521	"Porphyria, hepatoerythropoietic, 176100 (3)"	176100	2920211
ENSG00000126091	ST3GAL3	606494	"Epileptic encephalopathy, early infantile, 15, 615006 (3)"	615006	23252400
ENSG00000126091	"ST3GAL3, SIAT6, ST3GALII, MRT12, EIEE15"	606494	"Mental retardation, autosomal recessive 12, 611090 (3)"	611090	21907012
ENSG00000126218	F10	613872	"Factor X deficiency, 227600 (3)"	227600	2790181
ENSG00000126231	PROZ	176895	"[Protein Z deficiency], 614024 (3)"	614024	15626740
ENSG00000126233	"SLURP1, MDM"	606119	"Meleda disease, 248300 (3)"	248300	11285253
ENSG00000126267	COX6B1	124089	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	18499082
ENSG00000126522	ASL	608310	"Argininosuccinic aciduria, 207900 (3)"	207900	7250970
ENSG00000126524	"SBDS, SDS"	607444	"Shwachman-Diamond syndrome, 260400 (3)"	260400	12496757
ENSG00000126562	"WNK4, PRKWNK4, PHA2B"	601844	"Pseudohypoaldosteronism, type IIB, 614491 (3)"	614491	11498583
ENSG00000126583	"PRKCG, PKCC, PKCG, SCA14"	176980	"Spinocerebellar ataxia 14, 605361 (3)"	605361	12644968
ENSG00000126705	"AHDC1, MRD25"	615790	"Xia-Gibbs syndrome, 615829 (3)"	615829	24791903
ENSG00000126749	EMG1	611531	"Bowen-Conradi syndrome, 211180 (3)"	211180	19463982
ENSG00000126759	"PFC, PFD"	300383	"Properdin deficiency, X-linked, 312060 (3)"	312060	8530058
ENSG00000126778	SIX1	601205	"Branchiootic syndrome 3, 608389 (3)"	608389	15141091
ENSG00000126778	SIX1	601205	"Deafness, autosomal dominant 23, 605192 (3)"	605192	15141091
ENSG00000126814	TRMT5	611023	"Combined oxidative phosphorylation deficiency 26, 616539 (3)"	616539	26189817
ENSG00000126870	"WDR60, SRTD8, SRPS6"	615462	"Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)"	615503	23910462
ENSG00000126895	AVPR2	300538	"Diabetes insipidus, nephrogenic, 304800 (3)"	304800	"1356229, 1303271"
ENSG00000126895	"AVPR2, DIR, DI1, ADHR"	300538	"Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3)"	300539	15872203
ENSG00000126934	MAP2K2	601263	"Cardiofaciocutaneous syndrome 4, 615280 (3)"	615280	20358587
ENSG00000126945	"HNRPH2, MRXSB"	300610	"Mental retardation, X-linked, syndromic, Bain type, 300986 (3)"	300986	27545675
ENSG00000126953	"TIMM8A, DFN1, DDP, MTS, DDP1"	300356	"Mohr-Tranebjaerg syndrome, 304700 (3)"	304700	8841189
ENSG00000126970	"ZC4H2, KIAA1166, WRWF"	300897	"Wieacker-Wolff syndrome, 314580 (3)"	314580	23623388
ENSG00000127152	BCL11B	606558	"?Immunodeficiency 49, 617237 (3)"	617237	27959755
ENSG00000127241	MASP1	600521	"3MC syndrome 1, 257920 (3)"	257920	21035106
ENSG00000127415	"IDUA, IDA"	252800	"Mucopolysaccharidosis Ih, 607014 (3)"	607014	7550242
ENSG00000127415	"IDUA, IDA"	252800	"Mucopolysaccharidosis Ih/s, 607015 (3)"	607015	7550242
ENSG00000127415	"IDUA, IDA"	252800	"Mucopolysaccharidosis Is, 607016 (3)"	607016	7550242
ENSG00000127463	EMC1	616846	"Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)"	616875	26942288
ENSG00000127472	PLA2G5	601192	"[Fleck retina, familial benign], 228980 (3)"	228980	22137173
ENSG00000127507	"ADGRE2, EMR2, VBU"	606100	"Vibratory urticaria, 125630 (3)"	125630	26841242
ENSG00000127554	"GFER, ERV1, ALR"	600924	"Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)"	613076	19409522
ENSG00000127616	SMARCA4	603254	"Coffin-Siris syndrome 4, 614609 (3)"	614609	22426308
ENSG00000127616	"SMARCA4, BRG1, RTPS2, MRD16, CSS4"	603254	"{Rhabdoid tumor predisposition syndrome 2}, 613325 (3)"	613325	20137775
ENSG00000127824	TUBA4A	191110	"Amyotrophic lateral sclerosis 22 with or without frontotemoral dementia, 616208 (3)"	616208	25374358
ENSG00000127838	"MR1, TAHCCP2, KIPP1184, BRP17, PNKD, FPD1, PDC, DYT8"	609023	"Paroxysmal nonkinesigenic dyskinesia, 118800 (3)"	118800	15262732
ENSG00000127884	"ECHS1, SCEH, ECHS1D"	602292	"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)"	616277	25125611
ENSG00000127914	AKAP9	604001	"?Long QT syndrome-11, 611820 (3)"	611820	18093912
ENSG00000127948	POR	124015	"Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)"	201750	14758361
ENSG00000127948	POR	124015	"Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)"	613571	14758361
ENSG00000127980	PEX1	602136	"Heimler syndrome 1, 234580 (3)"	234580	26387595
ENSG00000127980	"PEX1, ZWS1, PBD1A, PBD1B, HMLR1"	602136	"Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)"	214100	9398847
ENSG00000127980	"PEX1, ZWS1, PBD1A, PBD1B, HMLR1"	602136	"Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)"	601539	9398847
ENSG00000127990	SGCE	604149	"Dystonia-11, myoclonic, 159900 (3)"	159900	11528394
ENSG00000128039	SRD5A3	611715	"Congenital disorder of glycosylation, type Iq, 612379 (3)"	612379	20637498
ENSG00000128039	SRD5A3	611715	"Kahrizi syndrome, 612713 (3)"	612713	20700148
ENSG00000128039	"SRD5A3, SRD5A2L, CDG1Q, KRIZI"	611715	"Kahrizi syndrome, 612713 (3)"	612713	20700148
ENSG00000128159	"TUBGCP6, GCP6, KIAA1669, MCCRP1"	610053	"Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)"	251270	22279524
ENSG00000128274	"A4GALT, P1PK"	607922	"NOR polyagglutination syndrome, 111400 (3)"	111400	"10747952, 10993874"
ENSG00000128322	IGLL1	146770	"Agammaglobulinemia 2, 613500 (3)"	613500	9419212
ENSG00000128340	RAC2	602049	"Neutrophil immunodeficiency syndrome, 608203 (3)"	608203	10758162
ENSG00000128422	"KRT17, PC2, PCHC1"	148069	"Pachyonychia congenita 2, 167210 (3)"	167210	7539673
ENSG00000128422	"KRT17, PC2, PCHC1"	148069	"Steatocystoma multiplex, 184500 (3)"	184500	9008238
ENSG00000128573	"FOXP2, SPCH1, TNRC10, CAGH44"	605317	"Speech-language disorder-1, 602081 (3)"	602081	11586359
ENSG00000128591	FLNC	102565	")Cardiomyopathy, familial restrictive 5, 617047 (3)"	617047	25351925
ENSG00000128591	"FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5"	102565	"Myopathy, distal, 4, 614065 (3)"	614065	21620354
ENSG00000128591	"FLNC, FLN2, ABPA, ABPL, MFM5, MPD4, CMH26, RCM5"	102565	"Myopathy, myofibrillar, 5, 609524 (3)"	609524	15929027
ENSG00000128604	"IRF5, IBD14, SLEB10"	607218	"{Inflammatory bowel disease 14}, 612245 (3)"	612245	17881657
ENSG00000128610	FEZF1	613301	"Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3)"	616030	25192046
ENSG00000128617	OPN1SW	613522	"Colorblindness, tritan, 190900 (3)"	190900	1531728
ENSG00000128655	"PDE11A, PDE11A1, PDE11A2, PDE11A3, PPNAD2"	604961	"Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)"	610475	16767104
ENSG00000128656	CHN1	118423	"Duane retraction syndrome 2, 604356 (3)"	604356	18653847
ENSG00000128683	GAD1	605363	"?Cerebral palsy, spastic quadriplegic, 1, 603513 (3)"	603513	15571623
ENSG00000128710	HOXD10	142984	"Charcot-Marie-Tooth disease, foot deformity of, 192950 (3)"	192950	15146389
ENSG00000128710	"HOXD10, HOX4D"	142984	"Vertical talus, congenital, 192950 (3)"	192950	16450407
ENSG00000128714	HOXD13	142989	"?Brachydactyly-syndactyly syndrome, 610713 (3)"	610713	17236141
ENSG00000128714	HOXD13	142989	"Brachydactyly, type D, 113200 (3)"	113200	12649808
ENSG00000128714	HOXD13	142989	"Brachydactyly, type E, 113300 (3)"	113300	12649808
ENSG00000128714	"HOXD13, HOX4I, SPD1, BDSD"	142989	"Syndactyly, type V, 186300 (3)"	186300	16222680
ENSG00000128714	"HOXD13, HOX4I, SPD1, BDSD"	142989	"Synpolydactyly 1, 186000 (3)"	186000	8614804
ENSG00000128739	SNRPN	182279	"Prader-Willi syndrome, 176270 (3)"	176270	8242060
ENSG00000128829	"EIF2AK4, GCN2, KIAA1338, PVOD2"	609280	"Pulmonary venoocclusive disease 2, 234810 (3)"	234810	24292273
ENSG00000128881	"TTBK2, SCA11"	611695	"Spinocerebellar ataxia 11, 604432 (3)"	604432	18037885
ENSG00000128917	DLL4	605185	"Adams-Oliver syndrome 6, 616589 (3)"	616589	26299364
ENSG00000128928	IVD	607036	"Isovaleric acidemia, 243500 (3)"	243500	2063866
ENSG00000128973	CLN6	606725	"Ceroid lipofuscinosis, neuronal, 6, 601780 (3)"	601780	"11791207, 11727201"
ENSG00000128973	CLN6	606725	"Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 (3)"	204300	21549341
ENSG00000129003	"VPS13C, KIAA1421, PARK23"	608879	"Parkinson disease 23, autosomal recessive, early onset, 616840 (3)"	616840	26942284
ENSG00000129159	KCNC1	176258	"Epilepsy, progressive myoclonic 7, 616187 (3)"	616187	25401298
ENSG00000129170	CSRP3	600824	"?Cardiomyopathy, dilated, 1M, 607482 (3)"	607482	12507422
ENSG00000129221	AIPL1	604392	"Cone-rod dystrophy, 604393 (3)"	604393	10615133
ENSG00000129221	"AIPL1, LCA4"	604392	"Leber congenital amaurosis 4, 604393 (3)"	604393	10873396
ENSG00000129221	"AIPL1, LCA4"	604392	"Retinitis pigmentosa, juvenile, 604393 (3)"	604393	10873396
ENSG00000129250	"KIF1C, LTXS1, KIAA0706, SPAX2"	603060	"Spastic ataxia 2, autosomal recessive, 611302 (3)"	611302	24319291
ENSG00000129255	MPDU1	604041	"Congenital disorder of glycosylation, type If, 609180 (3)"	609180	"11733564, 11733556"
ENSG00000129295	LRRC6	614930	"Ciliary dyskinesia, primary, 19, 614935 (3)"	614935	23122589
ENSG00000129535	"NRL, D14S46E, RP27"	162080	"Retinitis pigmentosa 27, 613750 (3)"	613750	10192380
ENSG00000129667	"RHBDF2, IRHOM2, TOC"	614404	"Tylosis with esophageal cancer, 148500 (3)"	148500	22265016
ENSG00000129675	"ARHGEF6, MRX46, COOL2"	300267	"Mental retardation, X-linked 46, 300436 (3)"	300436	11017088
ENSG00000129696	"TTI2, C8orf41, MRT39"	614426	"Mental retardation, autosomal recessive 39, 615541 (3)"	615541	21937992
ENSG00000129757	CDKN1C	600856	"IMAGE syndrome, 614732 (3)"	614732	22634751
ENSG00000129810	SGO1	609168	"Chronic atrial and intestinal dysrhythmia, 616201 (3)"	616201	25282101
ENSG00000129910	"CDH15, CDH14, CDH3, MRD3"	114019	"Mental retardation, autosomal dominant 3, 612580 (3)"	612580	19012874
ENSG00000129991	TNNI3	191044	"?Cardiomyopathy, dilated, 2A, 611880 (3)"	611880	15070570
ENSG00000129991	TNNI3	191044	"Cardiomyopathy, dilated, 1FF, 613286 (3)"	613286	19590045
ENSG00000129991	TNNI3	191044	"Cardiomyopathy, familial restrictive, 1, 115210 (3)"	115210	12531876
ENSG00000130005	GAMT	601240	"Cerebral creatine deficiency syndrome 2, 612736 (3)"	612736	8651275
ENSG00000130023	ERMARD	615532	"?Periventricular nodular heterotopia 6, 615544 (3)"	615544	24056535
ENSG00000130037	KCNA5	176267	"Atrial fibrillation, familial, 7, 612240 (3)"	612240	16772329
ENSG00000130158	DOCK6	614194	"Adams-Oliver syndrome 2, 614219 (3)"	614219	21820096
ENSG00000130164	LDLR	606945	"Hypercholesterolemia, familial, 143890 (3)"	143890	3549308
ENSG00000130175	"PRKCSH, G19P1, PCLD1"	177060	"Polycystic liver disease 1, 174050 (3)"	174050	12577059
ENSG00000130203	APOE	107741	"Alzheimer disease-2, 104310 (3)"	104310	8346443
ENSG00000130203	APOE	107741	"Hyperlipoproteinemia, type III, 617347 (3)"	617347	7175379
ENSG00000130203	"APOE, AD2, LPG, LDLCQ5"	107741	"Lipoprotein glomerulopathy, 611771 (3)"	611771	9176854
ENSG00000130203	"APOE, AD2, LPG, LDLCQ5"	107741	"Sea-blue histiocyte disease, 269600 (3)"	269600	11095479
ENSG00000130226	"DPP6, VF2, MRD33"	126141	"{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)"	612956	19285295
ENSG00000130226	"DPP6, VF2, MRD33"	126141	"Mental retardation, autosomal dominant 33, 616311 (3)"	616311	23832105
ENSG00000130283	GDF1	602880	"Double-outlet right ventricle, 217095 (3)"	217095	14585638
ENSG00000130294	"KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9"	601255	"Mental retardation, autosomal dominant 9, 614255 (3)"	614255	21376300
ENSG00000130294	"KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9"	601255	"Neuropathy, hereditary sensory, type IIC, 614213 (3)"	614213	21820098
ENSG00000130294	"KIF1A, ATSV, UNC104, SPG30, HSN2C, MRD9"	601255	"Spastic paraplegia 30, autosomal recessive, 610357 (3)"	610357	21487076
ENSG00000130299	GTPBP3	608536	"Combined oxidative phosphorylation deficiency 23, 616198 (3)"	616198	25434004
ENSG00000130347	"RTN4IP1, NIMP, OPA10"	610502	"Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)"	616732	26593267
ENSG00000130363	RSPH3	615876	"Ciliary dyskinesia, primary, 32, 616481 (3)"	616481	26073779
ENSG00000130385	"BMP15, GDF9B, ODG2, POF4"	300247	"Ovarian dysgenesis 2, 300510 (3)"	300510	15136966
ENSG00000130385	"BMP15, GDF9B, ODG2, POF4"	300247	"Premature ovarian failure 4, 300510 (3)"	300510	15136966
ENSG00000130402	ACTN4	604638	"Glomerulosclerosis, focal segmental, 1, 603278 (3)"	603278	10700177
ENSG00000130414	NDUFA10	603835	"Leigh syndrome, 256000 (3)"	256000	
ENSG00000130449	ZSWIM6	615951	"Acromelic frontonasal dysostosis, 603671 (3)"	603671	25105228
ENSG00000130489	SCO2	604272	"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)"	604377	10545952
ENSG00000130508	PXDN	605158	"Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)"	269400	21907015
ENSG00000130529	"TRPM4, PFHB1B"	606936	"Progressive familial heart block, type IB, 604559 (3)"	604559	19726882
ENSG00000130561	"SAG, RP47"	181031	"Oguchi disease-1, 258100 (3)"	258100	7670478
ENSG00000130561	"SAG, RP47"	181031	"Retinitis pigmentosa 47, 613758 (3)"	613758	9565049
ENSG00000130595	TNNT3	600692	"Arthyrgryposis, distal, type 2B, 601680 (3)"	601680	12865991
ENSG00000130598	TNNI2	191043	"Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)"	601680	12592607
ENSG00000130600	"H19, D11S813E, ASM1, BWS, WT2"	103280	"Silver-Russell syndrome, 180860 (3)"	180860	16086014
ENSG00000130600	"H19, D11S813E, ASM1, BWS, WT2"	103280	"Wilms tumor 2, 194071 (3)"	194071	18836444
ENSG00000130638	"ATXN10, SCA10"	611150	"Spinocerebellar ataxia 10, 603516 (3)"	603516	11017075
ENSG00000130675	MNX1	142994	"Currarino syndrome, 176450 (3)"	176450	9843207
ENSG00000130703	OSBPL2	606731	"Deafness, autosomal dominant 67, 616340 (3)"	616340	25077649
ENSG00000130707	ASS1	603470	"Citrullinemia, 215700 (3)"	215700	3570300
ENSG00000130711	"PRDM12, HSAN8"	616458	"Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)"	616488	26005867
ENSG00000130714	"POMT1, MDDGA1, MDDGB1, MDDGC1"	607423	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)"	236670	12369018
ENSG00000130714	"POMT1, MDDGA1, MDDGB1, MDDGC1"	607423	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)"	613155	16575835
ENSG00000130714	"POMT1, MDDGA1, MDDGB1, MDDGC1"	607423	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)"	609308	15792865
ENSG00000130741	"EIF2S3, EIF2G, MRXSBRK"	300161	"Mental retardation, X-linked, syndromic, Borck type, 300987 (3)"	300987	23063529
ENSG00000130816	DNMT1	126375	"Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)"	604121	22328086
ENSG00000130816	"DNMT1, MCMT, HSN1E, ADCADN"	126375	"Neuropathy, hereditary sensory, type IE, 614116 (3)"	614116	21532572
ENSG00000130821	SLC6A8	300036	"Cerebral creatine deficiency syndrome 1, 300352 (3)"	300352	11326334
ENSG00000130826	DKC1	300126	"Dyskeratosis congenita, X-linked, 305000 (3)"	305000	9590285
ENSG00000130921	C12orf65	613541	"Combined oxidative phosphorylation deficiency 7, 613559 (3)"	613559	20598281
ENSG00000130921	"C12orf65, COXPD7, SPG55"	613541	"Spastic paraplegia 55, autosomal recessive, 615035 (3)"	615035	23188110
ENSG00000130948	"HSD17B3, EDH17B3"	605573	"Pseudohermaphroditism, male, with gynecomastia, 264300 (3)"	264300	6310248
ENSG00000130985	"UBA1, UBE1, GXP1, A1ST, SMAX2, AMCX1"	314370	"Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)"	301830	18179898
ENSG00000131018	SYNE1	608441	"Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998 (3)"	612998	17761684
ENSG00000131018	"SYNE1, KIAA0796, KIAA1756, KIAA1262, SCAR8, EDMD4"	608441	"Spinocerebellar ataxia, autosomal recessive 8, 610743 (3)"	610743	17159980
ENSG00000131055	COX4I2	607976	"Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3)"	612714	19268275
ENSG00000131089	ARHGEF9	300429	"Epileptic encephalopathy, early infantile, 8, 300607 (3)"	300607	15215304
ENSG00000131095	GFAP	137780	"Alexander disease, 203450 (3)"	203450	11138011
ENSG00000131100	ATP6V1E1	108746	"Cutis laxa, autosomal recessive, type IIC, 617402 (3)"	617402	28065471
ENSG00000131127	ZNF141	194648	"?Polydactyly, postaxial, type A6, 615226 (3)"	615226	23160277
ENSG00000131165	"CHMP1A, PCOLN3, PRSM1, PCH8"	164010	"Pontocerebellar hypoplasia, type 8, 614961 (3)"	614961	23023333
ENSG00000131174	"COX7B, LSDMCA2"	300885	"Linear skin defects with multiple congenital anomalies 2, 300887 (3)"	300887	23122588
ENSG00000131183	SLC34A1	182309	"Fanconi renotubular syndrome 2, 613388 (3)"	613388	20335586
ENSG00000131183	SLC34A1	182309	"Hypercalcemia, infantile, 2, 616963 (3)"	616963	26047794
ENSG00000131183	"SLC34A1, SLC17A2, NPT2, NPHLOP1, FRTS2, HCINF2"	182309	"Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)"	612286	12324554
ENSG00000131187	F12	610619	"Angioedema, hereditary, type III, 610618 (3)"	610618	16638441
ENSG00000131187	F12	610619	"Factor XII deficiency, 234000 (3)"	234000	2882793
ENSG00000131238	PPT1	600722	"Ceroid lipofuscinosis, neuronal, 1, 256730 (3)"	256730	7637805
ENSG00000131263	"RNF12, RLIM, MRX61"	300379	"Mental retardation, X-linked 61, 300978 (3)"	300978	25735484
ENSG00000131269	ABCB7	300135	"Anemia, sideroblastic, with ataxia, 301310 (3)"	301310	10196363
ENSG00000131398	"KCNC3, SCA13"	176264	"Spinocerebellar ataxia 13, 605259 (3)"	605259	16501573
ENSG00000131462	TUBG1	191135	"Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)"	615412	23603762
ENSG00000131469	RPL27	607526	"?Diamond-Blackfan anemia 16, 617408 (3)"	617408	25424902
ENSG00000131470	"PSMC3IP, TBPIP, GT198, HOP2, ODG3"	608665	"Ovarian dysgenesis 3, 614324 (3)"	614324	21963259
ENSG00000131482	G6PC	613742	"Glycogen storage disease Ia, 232200 (3)"	232200	8211187
ENSG00000131495	NDUFA2	602137	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	18513682
ENSG00000131504	DIAPH1	602121	"Deafness, autosomal dominant 1, 124900 (3)"	124900	9360932
ENSG00000131504	"DIAPH1, DFNA1, LFHL1, SCBMS"	602121	"Seizures, cortical blindness, microcephaly syndrome, 616632 (3)"	616632	24781755
ENSG00000131652	THOC6	615403	"Beaulieu-Boycott-Innes syndrome, 613680 (3)"	613680	23621916
ENSG00000131697	"NPHP4, SLSN4"	607215	"Nephronophthisis 4, 606966 (3)"	606966	12244321
ENSG00000131697	"NPHP4, SLSN4"	607215	"Senior-Loken syndrome 4, 606996 (3)"	606996	12205563
ENSG00000131779	PEX11B	603867	"?Peroxisome biogenesis disorder 14B, 614920 (3)"	614920	22581968
ENSG00000131808	FSHB	136530	"Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)"	229070	8220432
ENSG00000131828	"PDHA1, PHE1A, PDHAD"	300502	"Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)"	312170	2537010
ENSG00000131844	MCCC2	609014	"3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 (3)"	210210	11181649
ENSG00000131873	"CHSY1, KIAA0990, TPBS"	608183	"Temtamy preaxial brachydactyly syndrome, 605282 (3)"	605282	21129728
ENSG00000131931	THAP1	609520	"Dystonia 6, torsion, 602629 (3)"	602629	19182804
ENSG00000131943	C19orf12	614297	"?Spastic paraplegia 43, autosomal recessive, 615043 (3)"	615043	23857908
ENSG00000131943	"C19orf12, NBIA4, SPG43"	614297	"Neurodegeneration with brain iron accumulation 4, 614298 (3)"	614298	21981780
ENSG00000131979	GCH1	600225	"Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)"	128230	7874165
ENSG00000131979	GCH1	600225	"Hyperphenylalaninemia, BH4-deficient, B, 233910 (3)"	233910	7869202
ENSG00000132024	"CC2D1A, MRT3"	610055	"Mental retardation, autosomal recessive 3, 608443 (3)"	608443	16033914
ENSG00000132031	MATN3	602109	"Epiphyseal dysplasia, multiple, 5, 607078 (3)"	607078	11479597
ENSG00000132031	"MATN3, EDM5, HOA, OS2"	602109	"Spondyloepimetaphyseal dysplasia, 608728 (3)"	608728	15121775
ENSG00000132155	RAF1	164760	"Cardiomyopathy, dilated, 1NN, 615916 (3)"	615916	24777450
ENSG00000132155	"RAF1, CRAF, NS5, CMD1NN"	164760	"LEOPARD syndrome 2, 611554 (3)"	611554	17603483
ENSG00000132155	"RAF1, CRAF, NS5, CMD1NN"	164760	"Noonan syndrome 5, 611553 (3)"	611553	17603483
ENSG00000132170	"PPARG, PPARG1, PPARG2, CIMT1, GLM1"	601487	"Lipodystrophy, familial partial, type 3, 604367 (3)"	604367	10622252
ENSG00000132326	PER2	603426	"Advanced sleep phase syndrome, familial, 1, 604348 (3)"	604348	11232563
ENSG00000132437	DDC	107930	"Aromatic L-amino acid decarboxylase deficiency, 608643 (3)"	608643	"Chang, Y. T., Mues, G., McPherson, J. D., Bedell, J., Marsh, J. L., Hyland, K., Courtwright, K. H., Summers, J. W. Mutations in the human aromatic L-amino acid decarboxylase gene. J. Inherit. Metab. Dis. 21: 4 only, 1998."
ENSG00000132464	ENAM	606585	"Amelogenesis imperfecta, type IB, 104500 (3)"	104500	11487571
ENSG00000132464	ENAM	606585	"Amelogenesis imperfecta, type IC, 204650 (3)"	204650	14684688
ENSG00000132470	ITGB4	147557	"Epidermolysis bullosa of hands and feet, 131800 (3)"	131800	12485428
ENSG00000132470	ITGB4	147557	"Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)"	226730	7545057
ENSG00000132517	"SLC52A1, GPR172B, GPCR42, PAR2, FLJ10060, RBFVD"	607883	"Riboflavin deficiency, 615026 (3)"	615026	21089064
ENSG00000132518	GUCY2D	600179	"Cone-rod dystrophy 6, 601777 (3)"	601777	9618177
ENSG00000132518	"GUCY2D, GUC2D, LCA1, CORD6, RCD2"	600179	"Leber congenital amaurosis 1, 204000 (3)"	204000	8944027
ENSG00000132549	VPS13B	607817	"Cohen syndrome, 216550 (3)"	216550	12730828
ENSG00000132563	REEP2	609347	"?Spastic paraplegia 72, autosomal dominant, 615625 (3)"	615625	24388663
ENSG00000132563	REEP2	609347	"?Spastic paraplegia 72, autosomal recessive, 615625 (3)"	615625	24388663
ENSG00000132600	"PRMT7, KIAA1933, SBIDDS"	610087	"Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3)"	617157	26437029
ENSG00000132639	SNAP25	600322	"?Myasthenic syndrome, congenital, 18, 616330 (3)"	616330	25381298
ENSG00000132646	PCNA	176740	"?Ataxia-telangiectasia-like disorder, 615919 (3)"	615919	24911150
ENSG00000132669	"RIN2, MACS"	610222	"Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)"	613075	19631308
ENSG00000132716	DCAF8	615820	"?Giant axonal neuropathy 2, autosomal dominant, 610100 (3)"	610100	24500646
ENSG00000132740	IGHMBP2	600502	"Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)"	616155	25439726
ENSG00000132740	"IGHMBP2, SMUBP2, CATF1, SMARD1, HMN6, CMT2S"	600502	"Neuronopathy, distal hereditary motor, type VI, 604320 (3)"	604320	11528396
ENSG00000132763	MMACHC	609831	"Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)"	277400	16311595
ENSG00000132781	MUTYH	604933	"Adenomas, multiple colorectal, 608456 (3)"	608456	11818965
ENSG00000132781	MUTYH	604933	"Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)"	132600	10192393
ENSG00000132837	DMGDH	605849	"Dimethylglycine dehydrogenase deficiency, 605850 (3)"	605850	10102904
ENSG00000132842	AP3B1	603401	"Hermansky-Pudlak syndrome 2, 608233 (3)"	608233	10024875
ENSG00000132915	"PDE6A, PDEA, RP43"	180071	"Retinitis pigmentosa 43, 613810 (3)"	613810	7493036
ENSG00000132932	ATP8A2	605870	"?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, 615268 (3)"	615268	22892528
ENSG00000132963	"POMP, UMP1"	613386	"Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)"	601952	20226437
ENSG00000133019	CHRM3	118494	"?Prune belly syndrome, 100100 (3)"	100100	22077972
ENSG00000133020	MYH8	160741	"Carney complex variant, 608837 (3)"	608837	15282353
ENSG00000133020	"MYH8, DA7"	160741	"Trismus-pseudocamptodactyly syndrome, 158300 (3)"	158300	15282353
ENSG00000133028	"SCO1, SCOD1"	603644	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	11013136
ENSG00000133059	"DSTYK, KIAA0472, RIP5, DUSTYPK, CAKUT1, SPG23"	612666	"Spastic paraplegia 23, 270750 (3)"	270750	28157540
ENSG00000133063	CHIT	600031	"[Chitotriosidase deficiency], 614122 (3)"	614122	9748235
ENSG00000133103	COG6	606977	"Congenital disorder of glycosylation, type IIl, 614576 (3)"	614576	20605848
ENSG00000133103	"COG6, COD2, KIAA1134, CDG2L, SHNS"	606977	"Shaheen syndrome, 615328 (3)"	615328	23606727
ENSG00000133104	SPG20	607111	"Troyer syndrome, 275900 (3)"	275900	12134148
ENSG00000133111	RFXAP	601861	"Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)"	209920	"3934559, 12368908"
ENSG00000133116	"KL, KLOTHO"	604824	"Tumoral calcinosis, hyperphosphatemic, 211900 (3)"	211900	17710231
ENSG00000133256	"PDE6B, PDEB, RP40, CSNBAD2"	180072	"Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)"	163500	8075643
ENSG00000133256	"PDE6B, PDEB, RP40, CSNBAD2"	180072	"Retinitis pigmentosa-40, 613801 (3)"	613801	8394174
ENSG00000133392	MYH11	160745	"Aortic aneurysm, familial thoracic 4, 132900 (3)"	132900	14722581
ENSG00000133422	MORC2	616661	"Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)"	616688	26497905
ENSG00000133424	"LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6"	603590	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)"	613154	17436019
ENSG00000133424	"LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6"	603590	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)"	608840	12966029
ENSG00000133703	KRAS	190070	"Cardiofaciocutaneous syndrome 2, 615278 (3)"	615278	16474404
ENSG00000133703	"KRAS, KRAS2, RASK2, NS, CFC2, RALD"	190070	"Noonan syndrome 3, 609942 (3)"	609942	16474405
ENSG00000133703	"KRAS, KRAS2, RASK2, NS, CFC2, RALD"	190070	"RAS-associated autoimmune leukoproliferative disorder, 614470 (3)"	614470	21079152
ENSG00000133706	LARS	151350	"?Infantile liver failure syndrome 1, 615438 (3)"	615438	22607940
ENSG00000133710	"SPINK5, LEKTI"	605010	"Netherton syndrome, 256500 (3)"	256500	10835624
ENSG00000133731	"IMPA1, MRT59"	602064	"Mental retardation, autosomal recessive 59, 617323 (3)"	617323	26416544
ENSG00000133812	SBF2	607697	"Charcot-Marie-Tooth disease, type 4B2, 604563 (3)"	604563	12554688
ENSG00000133835	HSD17B4	601860	"D-bifunctional protein deficiency, 261515 (3)"	261515	9345094
ENSG00000133835	"HSD17B4, PRLTS1"	601860	"Perrault syndrome 1, 233400 (3)"	233400	20673864
ENSG00000133895	MEN1	613733	"Multiple endocrine neoplasia 1, 131100 (3)"	131100	9103196
ENSG00000133937	"GSC, SAMS"	138890	"Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3)"	602471	24290375
ENSG00000134049	"IER3IP1, MEDS"	609382	"Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)"	614231	21835305
ENSG00000134086	VHL	608537	"Erythrocytosis, familial, 2, 263400 (3)"	263400	11987242
ENSG00000134086	VHL	608537	"Pheochromocytoma, 171300 (3)"	171300	8592333
ENSG00000134086	VHL	608537	"von Hippel-Lindau syndrome, 193300 (3)"	193300	8493574
ENSG00000134160	"TRPM1, MLSN1, CSNB1C"	603576	"Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)"	613216	19878917
ENSG00000134183	GNAT2	139340	"Achromatopsia 4, 613856 (3)"	613856	12077706
ENSG00000134240	HMGCS2	600234	"HMG-CoA synthase-2 deficiency, 605911 (3)"	605911	11228257
ENSG00000134250	NOTCH2	600275	"Alagille syndrome 2, 610205 (3)"	610205	16773578
ENSG00000134250	NOTCH2	600275	"Hajdu-Cheney syndrome, 102500 (3)"	102500	21378985
ENSG00000134259	"NGF, NGFB, HSAN5"	162030	"Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)"	608654	14976160
ENSG00000134262	"AP4B1, SPG47, CPSQ5"	607245	"Spastic paraplegia 47, autosomal recessive, 614066 (3)"	614066	21620353
ENSG00000134313	"KIDINS220, ARMS, SINO"	615759	"Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3)"	617296	27005418
ENSG00000134323	MYCN	164840	"Feingold syndrome 1, 164280 (3)"	164280	15821734
ENSG00000134324	LPIN1	605518	"Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)"	268200	18817903
ENSG00000134333	LDHA	150000	"Glycogen storage disease XI, 612933 (3)"	612933	2334430
ENSG00000134343	ANO3	610110	"Dystonia 24, 615034 (3)"	615034	23200863
ENSG00000134371	CDC73	607393	"Hyperparathyroidism-jaw tumor syndrome, 145001 (3)"	145001	12434154
ENSG00000134371	CDC73	607393	"Hyperparathyroidism, familial primary, 145000 (3)"	145000	12434154
ENSG00000134371	"CDC73, HRPT2, C1orf28"	607393	"Parathyroid adenoma with cystic changes, 145001 (3)"	145001	12434154
ENSG00000134371	"CDC73, HRPT2, C1orf28"	607393	"Parathyroid carcinoma, 608266 (3)"	608266	14585940
ENSG00000134376	"CRB1, RP12, LCA8"	604210	"Leber congenital amaurosis 8, 613835 (3)"	613835	11231775
ENSG00000134376	"CRB1, RP12, LCA8"	604210	"Pigmented paravenous chorioretinal atrophy, 172870 (3)"	172870	15623792
ENSG00000134376	"CRB1, RP12, LCA8"	604210	"Retinitis pigmentosa-12, autosomal recessive, 600105 (3)"	600105	10508521
ENSG00000134389	"CFHR5, CFHL5, FHR5, CFHR5D"	608593	"Nephropathy due to CFHR5 deficiency, 614809 (3)"	614809	20800271
ENSG00000134438	"RAX, RX, MCOP3"	601881	"Microphthalmia, isolated 3, 611038 (3)"	611038	14662654
ENSG00000134460	IL2RA	147730	"Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)"	606367	9096364
ENSG00000134504	"KCTD1, SENS"	613420	"Scalp-ear-nipple syndrome, 181270 (3)"	181270	23541344
ENSG00000134516	DOCK2	603122	"Immunodeficiency 40, 616433 (3)"	616433	26083206
ENSG00000134532	"SOX5, LAMSHF"	604975	"Lamb-Shaffer syndrome, 616803 (3)"	616803	22290657
ENSG00000134569	LRP4	604270	"?Myasthenic syndrome, congenital, 17, 616304 (3)"	616304	24234652
ENSG00000134569	LRP4	604270	"Cenani-Lenz syndactyly syndrome, 212780 (3)"	212780	20381006
ENSG00000134569	"LRP4, MEGF7, CLSS, SOST2, CMS17"	604270	"Sclerosteosis 2, 614305 (3)"	614305	21471202
ENSG00000134571	MYBPC3	600958	"Cardiomyopathy, dilated, 1MM, 615396 (3)"	615396	12379228
ENSG00000134571	"MYBPC3, CMH4, CMD1MM, LVNC10"	600958	"Left ventricular noncompaction 10, 615396 (3)"	615396	21551322
ENSG00000134574	DDB2	600811	"Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)"	278740	8798680
ENSG00000134575	ACP2	171650	"?Lysosomal acid phosphatase deficiency, 200950 (1)"	200950	5410815
ENSG00000134595	"SOX3, MRGH"	313430	"Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 (3)"	300123	12428212
ENSG00000134595	"SOX3, MRGH"	313430	"Panhypopituitarism, X-linked, 312000 (3)"	312000	15800844
ENSG00000134684	YARS	603623	"Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)"	608323	16429158
ENSG00000134755	DSC2	125645	"Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, 610476 (3)"	610476	17033975
ENSG00000134755	DSC2	125645	"Arrhythmogenic right ventricular dysplasia 11, 610476 (3)"	610476	18957847
ENSG00000134759	"ELP2, STATIP1, MRT58"	616054	"Mental retardation, autosomal recessive 58, 617270 (3)"	617270	21937992
ENSG00000134760	DSG1	125670	"Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)"	615508	23974871
ENSG00000134760	"DSG1, PPKS1, SPPK1, EPKHE"	125670	"Keratosis palmoplantaris striata I, AD, 148700 (3)"	148700	10332028
ENSG00000134762	DSC3	600271	"?Hypotrichosis and recurrent skin vesicles, 613102 (3)"	613102	19765682
ENSG00000134769	"DTNA, D18S892E, DRP3, LVNC1"	601239	"Left ventricular noncompaction 1, with or without congenital heart defects, 604169 (3)"	604169	11238270
ENSG00000134812	GIF	609342	"Intrinsic factor deficiency, 261000 (3)"	261000	14695536
ENSG00000134851	TMEM165	614726	"Congenital disorder of glycosylation, type IIk, 614727 (3)"	614727	22683087
ENSG00000134853	PDGFRA	173490	"Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)"	607685	12660384
ENSG00000134871	"COL4A2, POREN2, ICH"	120090	"Porencephaly 2, 614483 (3)"	614483	22209246
ENSG00000134899	ERCC5	133530	"Cerebrooculofacioskeletal syndrome 3, 616570 (3)"	616570	9096355
ENSG00000134899	"ERCC5, XPG, COFS3"	133530	"Xeroderma pigmentosum, group G, 278780 (3)"	278780	11841555
ENSG00000134899	"ERCC5, XPG, COFS3"	133530	"Xeroderma pigmentosum, group G/Cockayne syndrome, 278780 (3)"	278780	11228268
ENSG00000134905	CARS2	612800	"Combined oxidative phosphorylation deficiency 27, 616672 (3)"	616672	25787132
ENSG00000134910	STT3A	601134	"?Congenital disorder of glycosylation, type Iw, 615596 (3)"	615596	23842455
ENSG00000134982	APC	611731	"Adenomatous polyposis coli, 175100 (3)"	175100	"1651174, 1651563"
ENSG00000134982	APC	611731	"Brain tumor-polyposis syndrome 2, 175100 (3)"	175100	"1651174, 1651563"
ENSG00000134982	APC	611731	"Desmoid disease, hereditary, 135290 (3)"	135290	8102685
ENSG00000134982	APC	611731	"Gardner syndrome, 175100 (3)"	175100	"1651174, 1651563"
ENSG00000135069	PSAT1	610936	"?Phosphoserine aminotransferase deficiency, 610992 (3)"	610992	17436247
ENSG00000135069	"PSAT1, PSAT, EPIP, PSATD, NLS2"	610936	"Neu-Laxova syndrome 2, 616038 (3)"	616038	25152457
ENSG00000135100	HNF1A	142410	"Diabetes mellitus, insulin-dependent, 20, 612520 (3)"	612520	9313763
ENSG00000135100	"HNF1A, TCF1, MODY3, IDDM20"	142410	"Renal cell carcinoma, 144700 (3)"	144700	15649945
ENSG00000135111	TBX3	601621	"Ulnar-mammary syndrome, 181450 (3)"	181450	9207801
ENSG00000135218	"CD36, CHDS7, BDPLT10"	173510	"Platelet glycoprotein IV deficiency, 608404 (3)"	608404	7686693
ENSG00000135241	PNPLA8	612123	"?Mitochondrial myopathy with lactic acidosis, 251950 (3)"	251950	25512002
ENSG00000135297	MTO1	614667	"Combined oxidative phosphorylation deficiency 10, 614702 (3)"	614702	22608499
ENSG00000135317	"SNX14, SCAR20"	616105	"Spinocerebellar ataxia, autosomal recessive 20, 616354 (3)"	616354	25439728
ENSG00000135318	NT5E	129190	"Calcification of joints and arteries, 211800 (3)"	211800	21288095
ENSG00000135338	"LCA5, C6orf152"	611408	"Leber congenital amaurosis 5, 604537 (3)"	604537	17546029
ENSG00000135341	MAP3K7	602614	"Cardiospondylocarpofacial syndrome, 157800 (3)"	157800	27426734
ENSG00000135341	MAP3K7	602614	"Frontometaphyseal dysplasia 2, 617137 (3)"	617137	27426733
ENSG00000135409	"AMHR2, AMHR"	600956	"Persistent Mullerian duct syndrome, type II, 261550 (3)"	261550	8872466
ENSG00000135424	ITGA7	600536	"Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)"	613204	9590299
ENSG00000135443	KRT85	602767	"Ectodermal dysplasia 4, hair/nail type, 602032 (3)"	602032	16525032
ENSG00000135454	"B4GALNT1, GALGT, GALNACT, SPG26"	601873	"Spastic paraplegia 26, autosomal recessive, 609195 (3)"	609195	23746551
ENSG00000135486	HNRNPA1	164017	"?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3)"	615424	23455423
ENSG00000135486	HNRNPA1	164017	"Amyotrophic lateral sclerosis 20, 615426 (3)"	615426	23455423
ENSG00000135517	MIP	154050	"Cataract 15, multiple types, 615274 (3)"	615274	10802646
ENSG00000135535	CD164	603356	"?Deafness, autosomal dominant 66, 616969 (3)"	616969	26197441
ENSG00000135541	AHI1	608894	"Joubert syndrome-3, 608629 (3)"	608629	15322546
ENSG00000135604	STX11	605014	"Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)"	603552	15703195
ENSG00000135636	"DYSF, LGMD2B, MMD1"	603009	"Miyoshi muscular dystrophy 1, 254130 (3)"	254130	9731526
ENSG00000135636	"DYSF, LGMD2B, MMD1"	603009	"Muscular dystrophy, limb-girdle, type 2B, 253601 (3)"	253601	9731527
ENSG00000135636	"DYSF, LGMD2B, MMD1"	603009	"Myopathy, distal, with anterior tibial onset, 606768 (3)"	606768	9731526
ENSG00000135677	"GNS, G6S"	607664	"Mucopolysaccharidosis type IIID, 252940 (3)"	252940	12573255
ENSG00000135697	BCO1	605748	"Hypercarotenemia and vitamin A deficiency, autosomal dominant, 115300 (3)"	115300	17951468
ENSG00000135744	"AGT, SERPINA8"	106150	"Renal tubular dysgenesis, 267430 (3)"	267430	16116425
ENSG00000135766	EGLN1	606425	"Erythrocytosis, familial, 3, 609820 (3)"	609820	16407130
ENSG00000135775	COG2	606974	"?Congenital disorder of glycosylation, type IIq, 617395 (3)"	617395	24784932
ENSG00000135821	GLUL	138290	"Glutamine deficiency, congenital, 610015 (3)"	610015	16267323
ENSG00000135828	"RNASEL, RNS4, PRCA1, HPC1"	180435	"Prostate cancer 1, 601518 (3)"	601518	11799394
ENSG00000135899	SP110	604457	"Hepatic venoocclusive disease with immunodeficiency, 235550 (3)"	235550	16648851
ENSG00000135900	MRPL44	611849	"?Combined oxidative phosphorylation deficiency 16, 615395 (3)"	615395	23315540
ENSG00000135902	CHRND	100720	"?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3)"	616321	11782989
ENSG00000135902	CHRND	100720	"?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)"	616323	16916845
ENSG00000135902	"CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C"	100720	"Multiple pterygium syndrome, lethal type, 253290 (3)"	253290	18252226
ENSG00000135902	"CHRND, ACHRD, SCCMS, CMS3A, CMS3B, CMS3C"	100720	"Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)"	616322	11435464
ENSG00000135903	PAX3	606597	"Craniofacial-deafness-hand syndrome, 122880 (3)"	122880	7942851
ENSG00000135903	"PAX3, WS1, HUP2, CDHS, WS3"	606597	"Waardenburg syndrome, type 1, 193500 (3)"	193500	1347148
ENSG00000135903	"PAX3, WS1, HUP2, CDHS, WS3"	606597	"Waardenburg syndrome, type 3, 148820 (3)"	148820	8447316
ENSG00000135917	"SLC19A3, THMD2, BBGD"	606152	"Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)"	607483	15871139
ENSG00000135924	"DNAJB2, HSJ1, HSPF3, DSMA5"	604139	"Spinal muscular atrophy, distal, autosomal recessive, 5, 614881 (3)"	614881	22522442
ENSG00000135925	"WNT10A, SSPS, STHAG4, OODD"	606268	"Odontoonychodermal dysplasia, 257980 (3)"	257980	17847007
ENSG00000135925	"WNT10A, SSPS, STHAG4, OODD"	606268	"Schopf-Schulz-Passarge syndrome, 224750 (3)"	224750	19559398
ENSG00000135925	"WNT10A, SSPS, STHAG4, OODD"	606268	"Tooth agenesis, selective, 4, 150400 (3)"	150400	19559398
ENSG00000135929	CYP27A1	606530	"Cerebrotendinous xanthomatosis, 213700 (3)"	213700	2019602
ENSG00000135960	EDAR	604095	"Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)"	129490	10431241
ENSG00000135960	EDAR	604095	"Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)"	224900	10431241
ENSG00000136003	"ISCU, HML"	611911	"Myopathy with lactic acidosis, hereditary, 255125 (3)"	255125	18304497
ENSG00000136051	WASHC4	615748	"?Mental retardation, autosomal recessive 43, 615817 (3)"	615817	21498477
ENSG00000136068	FLNB	603381	"Atelosteogenesis, type I, 108720 (3)"	108720	14991055
ENSG00000136068	FLNB	603381	"Atelosteogenesis, type III, 108721 (3)"	108721	14991055
ENSG00000136068	FLNB	603381	"Boomerang dysplasia, 112310 (3)"	112310	14991055
ENSG00000136068	"FLNB, SCT, AOI, LRS1"	603381	"Larsen syndrome, 150250 (3)"	150250	14991055
ENSG00000136068	"FLNB, SCT, AOI, LRS1"	603381	"Spondylocarpotarsal synostosis syndrome, 272460 (3)"	272460	14991055
ENSG00000136104	RNASEH2B	610326	"Aicardi-Goutieres syndrome 2, 610181 (3)"	610181	16845400
ENSG00000136143	"SUCLA2, MTDPS5"	603921	"Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)"	612073	15877282
ENSG00000136144	"RCBTB1, CLLD7, GLP, RDEOA"	607867	"Retinal dystrophy with or without extraocular anomalies, 617175 (3)"	617175	27486781
ENSG00000136156	ITM2B	603904	"?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, 616079 (3)"	616079	24026677
ENSG00000136156	ITM2B	603904	"Dementia, familial British, 176500 (3)"	176500	10391242
ENSG00000136156	ITM2B	603904	"Dementia, familial Danish, 117300 (3)"	117300	10781099
ENSG00000136160	EDNRB	131244	"ABCD syndrome, 600501 (3)"	600501	11891690
ENSG00000136160	"EDNRB, HSCR2, ABCDS, WS4A"	131244	"Waardenburg syndrome, type 4A, 277580 (3)"	277580	8001158
ENSG00000136244	"IL6, IFNB2, BSF2, HSF, HGF"	147620	"{Crohn disease-associated growth failure}, 266600 (3)"	266600	16150725
ENSG00000136280	CCM2	607929	"Cerebral cavernous malformations-2, 603284 (3)"	603284	14624391
ENSG00000136352	NKX2-1	600635	"Chorea, hereditary benign, 118700 (3)"	118700	11971878
ENSG00000136352	NKX2-1	600635	"Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978 (3)"	610978	9565498
ENSG00000136425	CIB2	605564	"Deafness, autosomal recessive 48, 609439 (3)"	609439	23023331
ENSG00000136425	"CIB2, KIP2"	605564	"Usher syndrome, type IJ, 614869 (3)"	614869	23023331
ENSG00000136463	"TACO1, CCDC44"	612958	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	19503089
ENSG00000136492	BRIP1	605882	"Fanconi anemia, complementation group J, 609054 (3)"	609054	16116423
ENSG00000136531	SCN2A	182390	"Epileptic encephalopathy, early infantile, 11, 613721 (3)"	613721	15028761
ENSG00000136531	"SCN2A, SCN2A1, BFIC3, EIEE11, BFIS3, BFNIS"	182390	"Seizures, benign familial infantile, 3, 607745 (3)"	607745	12243921
ENSG00000136573	"BLK, MODY11"	191305	"Maturity-onset diabetes of the young, type 11, 613375 (3)"	613375	19667185
ENSG00000136574	GATA4	600576	"?Testicular anomalies with or without congenital heart disease, 615542 (3)"	615542	21220346
ENSG00000136574	GATA4	600576	"Atrial septal defect 2, 607941 (3)"	607941	12845333
ENSG00000136574	GATA4	600576	"Atrioventricular septal defect 4, 614430 (3)"	614430	17643447
ENSG00000136574	"GATA4, ASD2, VSD1, TACHD, TOF"	600576	"Tetralogy of Fallot, 187500 (3)"	187500	18055909
ENSG00000136574	"GATA4, ASD2, VSD1, TACHD, TOF"	600576	"Ventricular septal defect 1, 614429 (3)"	614429	18672102
ENSG00000136631	"VPS45A, VPS45, SCN5"	610035	"Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)"	615285	23738510
ENSG00000136689	IL1RN	147679	"Interleukin 1 receptor antagonist deficiency, 612852 (3)"	612852	19494218
ENSG00000136695	"IL36RN, IL1F5, FIL1D, IL1HY1, IL1RP3, PSORP, PSORS14"	605507	"Psoriasis 14, pustular, 614204 (3)"	614204	21848462
ENSG00000136698	CFC1	605194	"Heterotaxy, visceral, 2, autosomal, 605376 (3)"	605376	11062482
ENSG00000136710	CCDC115	613734	"Congenital disorder of glycosylation, type IIo, 616828 (3)"	616828	26833332
ENSG00000136717	"BIN1, AMPHL"	601248	"Myopathy, centronuclear, autosomal recessive, 255200 (3)"	255200	17676042
ENSG00000136720	"HS6ST1, HS6ST, HH15"	604846	"{Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)"	614880	21700882
ENSG00000136758	YME1L1	607472	"?Optic atrophy 11, 617302 (3)"	617302	27495975
ENSG00000136802	LRRC8A	608360	"?Agammaglobulinemia 5, 613506 (3)"	613506	14660746
ENSG00000136827	TOR1A	605204	"Dystonia-1, torsion, 128100 (3)"	128100	9288096
ENSG00000136854	STXBP1	602926	"Epileptic encephalopathy, early infantile, 4, 612164 (3)"	612164	18469812
ENSG00000136861	"CDK5RAP2, KIAA1633, MCPH3"	608201	"Microcephaly 3, primary, autosomal recessive, 604804 (3)"	604804	15793586
ENSG00000136872	ALDOB	612724	"Fructose intolerance, 229600 (3)"	229600	3383242
ENSG00000136875	"PRPF4, PRP4, HPRP4, RP70"	607795	"Retinitis pigmentosa 70, 615922 (3)"	615922	24419317
ENSG00000136908	DPM2	603564	"Congenital disorder of glycosylation, type Iu, 615042 (3)"	615042	23109149
ENSG00000136931	NR5A1	184757	"46XY sex reversal 3, 612965 (3)"	612965	10369247
ENSG00000136931	"NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8"	184757	"Premature ovarian failure 7, 612964 (3)"	612964	19246354
ENSG00000136931	"NR5A1, FTZF1, FTZ1, SF1, AD4BP, POF7, SRXY3, SPGF8"	184757	"Spermatogenic failure 8, 613957 (3)"	613957	20887963
ENSG00000136936	"XPA, XPAC"	611153	"Xeroderma pigmentosum, group A, 278700 (3)"	278700	2234061
ENSG00000136944	"LMX1B, NPS1"	602575	"Nail-patella syndrome, 161200 (3)"	161200	9590287
ENSG00000136997	MYC	190080	"Burkitt lymphoma, 113970 (3)"	113970	8220424
ENSG00000137070	IL11RA	600939	"Craniosynostosis and dental anomalies, 614188 (3)"	614188	21741611
ENSG00000137074	APTX	606350	"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)"	208920	11586299
ENSG00000137106	GRHPR	604296	"Hyperoxaluria, primary, type II, 260000 (3)"	260000	10484776
ENSG00000137203	TFAP2A	107580	"Branchiooculofacial syndrome, 113620 (3)"	113620	18423521
ENSG00000137267	TUBB2A	615101	"Cortical dysplasia, complex, with other brain malformations 5, 615763 (3)"	615763	24702957
ENSG00000137285	"TUBB2B, PMGYSA"	612850	"Polymicrogyria, symmetric or asymmetric, 610031 (3)"	610031	19465910
ENSG00000137288	UQCC2	614461	"?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3)"	615824	24385928
ENSG00000137411	VARS2	612802	"Combined oxidative phosphorylation deficiency 20, 615917 (3)"	615917	25058219
ENSG00000137474	MYO7A	276903	"Deafness, autosomal dominant 11, 601317 (3)"	601317	9354784
ENSG00000137474	MYO7A	276903	"Deafness, autosomal recessive 2, 600060 (3)"	600060	9171833
ENSG00000137474	"MYO7A, USH1B, DFNB2, DFNA11"	276903	"Usher syndrome, type 1B, 276900 (3)"	276900	7870171
ENSG00000137513	NARS2	612803	"Combined oxidative phosphorylation deficiency 24, 616239 (3)"	616239	25385316
ENSG00000137561	TTPA	600415	"Ataxia with isolated vitamin E deficiency, 277460 (3)"	277460	2298915
ENSG00000137601	"NEK1, SRTD6, SRPS2A"	604588	"Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)"	263520	21211617
ENSG00000137672	TRPC6	603652	"Glomerulosclerosis, focal segmental, 2, 603965 (3)"	603965	15879175
ENSG00000137674	MMP20	604629	"Amelogenesis imperfecta, type IIA2, 612529 (3)"	612529	15744043
ENSG00000137693	YAP1	606608	"Coloboma, ocular, 120433 (3)"	120433	24462371
ENSG00000137693	YAP1	606608	"Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, 120433 (3)"	120433	24462371
ENSG00000137700	SLC37A4	602671	"Glycogen storage disease Ib, 232220 (3)"	232220	10931421
ENSG00000137700	SLC37A4	602671	"Glycogen storage disease Ic, 232240 (3)"	232240	9428641
ENSG00000137710	RDX	179410	"Deafness, autosomal recessive 24, 611022 (3)"	611022	17226784
ENSG00000137731	FXYD2	601814	"Hypomagnesemia 2, renal, 154020 (3)"	154020	11062458
ENSG00000137745	"MMP13, CLG3, MANDP1, MDST"	600108	"Metaphyseal anadysplasia 1, 602111 (3)"	602111	16167086
ENSG00000137745	"MMP13, CLG3, MANDP1, MDST"	600108	"Metaphyseal dysplasia, Spahr type, 250400 (3)"	250400	19615667
ENSG00000137745	"MMP13, CLG3, MANDP1, MDST"	600108	"Spondyloepimetaphyseal dysplasia, Missouri type, 602111 (3)"	602111	16167086
ENSG00000137802	"MAPKBP1, JNKBP1, NPHP20"	616786	"Nephronophthisis 20, 617271 (3)"	617271	28089251
ENSG00000137806	"NDUFAF1, CIA30, CGI65"	606934	"Mitochondrial complex I deficiency, 252010 (3)"	252010	17557076
ENSG00000137812	"CASC5, AF15Q14, KIAA1570, D40, MCPH4"	609173	"Microcephaly 4, primary, autosomal recessive, 604321 (3)"	604321	22983954
ENSG00000137822	"TUBGCP4, GCP4, MCCRP3"	609610	"Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)"	616335	25817018
ENSG00000137834	SMAD6	602931	"Aortic valve disease 2, 614823 (3)"	614823	22275001
ENSG00000137845	"ADAM10, MADM, RAK, AD18"	602192	"Reticulate acropigmentation of Kitamura, 615537 (3)"	615537	23666529
ENSG00000137868	"STRA6, MCOPS9, MCOPCB8"	610745	"Microphthalmia, isolated, with coloboma 8, 601186 (3)"	601186	17273977
ENSG00000137868	"STRA6, MCOPS9, MCOPCB8"	610745	"Microphthalmia, syndromic 9, 601186 (3)"	601186	17273977
ENSG00000137869	CYP19A1	107910	"Aromatase excess syndrome, 139300 (3)"	139300	12736278
ENSG00000137869	CYP19A1	107910	"Aromatase deficiency, 613546 (3)"	613546	8265607
ENSG00000137992	"DBT, BCATE2"	248610	"Maple syrup urine disease, type II, 248600 (3)"	248600	1990841
ENSG00000138002	"IFT172, SLB, KIAA1179, SRTD10, RP71"	607386	"Retinitis pigmentosa 71, 616394 (3)"	616394	25168386
ENSG00000138002	"IFT172, SLB, KIAA1179, SRTD10, RP71"	607386	"Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)"	615630	24140113
ENSG00000138029	HADHB	143450	"Trifunctional protein deficiency, 609015 (3)"	609015	8651282
ENSG00000138030	KHK	614058	"[Fructosuria], 229800 (3)"	229800	7833921
ENSG00000138035	PNPT1	610316	"Combined oxidative phosphorylation deficiency 13, 614932 (3)"	614932	23084291
ENSG00000138035	PNPT1	610316	"Deafness, autosomal recessive 70, 614934 (3)"	614934	23084290
ENSG00000138036	"DYNC2LI1, D2LIC, LIC3, SRTD15"	617083	"Short-rib throacic dysplasia 15 with polydactyly, 617088 (3)"	617088	26077881
ENSG00000138039	"LHCGR, LHR, LCGR"	152790	"Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)"	238320	10714363
ENSG00000138039	"LHCGR, LHR, LCGR"	152790	"Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)"	238320	10714363
ENSG00000138039	"LHCGR, LHR, LCGR"	152790	"Luteinizing hormone resistance, female, 238320 (3)"	238320	10714363
ENSG00000138039	"LHCGR, LHR, LCGR"	152790	"Precocious puberty, male, 176410 (3)"	176410	7692306
ENSG00000138061	CYP1B1	601771	"Anterior segment dysgenesis 6, multiple subtypes, 617315 (3)"	617315	11403040
ENSG00000138075	ABCG5	605459	"Sitosterolemia, 210250 (3)"	210250	11099417
ENSG00000138078	PREPL	609557	"?Myasthenic syndrome, congenital, 22, 616224 (3)"	616224	24610330
ENSG00000138083	SIX3	603714	"Holoprosencephaly 2, 157170 (3)"	157170	10369266
ENSG00000138083	"SIX3, HPE2"	603714	"Schizencephaly, 269160 (3)"	269160	20157829
ENSG00000138095	"LRPPRC, LRP130, LSFC"	607544	"Leigh syndrome, French-Canadian type, 220111 (3)"	220111	
ENSG00000138160	"KIF11, KNSL1, MCLMR"	148760	"Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, 152950 (3)"	152950	22284827
ENSG00000138185	"ENTPD1, CD39, SPG64"	601752	"Spastic paraplegia 64, autosomal recessive, 615683 (3)"	615683	24482476
ENSG00000138193	"PLCE1, KIAA1516, NPHS3"	608414	"Nephrotic syndrome, type 3, 610725 (3)"	610725	17086182
ENSG00000138207	"RBP4, RDCCAS, MCOPCB10"	180250	"Microphthalmia, isolated, with coloboma 10, 616428 (3)"	616428	25910211
ENSG00000138207	"RBP4, RDCCAS, MCOPCB10"	180250	"Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3)"	615147	9888420
ENSG00000138303	ASCC1	614215	"?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3)"	616867	26924529
ENSG00000138326	RPS24	602412	"Diamond-blackfan anemia 3, 610629 (3)"	610629	17186470
ENSG00000138346	DNA2	601810	"?Seckel syndrome 8, 615807 (3)"	615807	24389050
ENSG00000138346	"DNA2, DNA2L, KIAA0083, PEOA6, SCKL8"	601810	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)"	615156	23352259
ENSG00000138347	MYPN	608517	"Cardiomyopathy, dilated, 1KK, 615248 (3)"	615248	18006477
ENSG00000138347	MYPN	608517	"Cardiomyopathy, familial restrictive, 4, 615248 (3)"	615248	22286171
ENSG00000138347	"MYPN, CMD1DD, CMH22, RCM4, NEM11"	608517	"Nemaline myopathy 11, autosomal recessive, 617336 (3)"	617336	28017374
ENSG00000138363	ATIC	601731	"AICA-ribosiduria due to ATIC deficiency, 608688 (3)"	608688	15114530
ENSG00000138375	"SMARCAL1, HARP, SIOD"	606622	"Schimke immunoosseous dysplasia, 242900 (3)"	242900	11799392
ENSG00000138379	"GDF8, MSTN, MSLHP"	601788	"Muscle hypertrophy, 614160 (3)"	614160	15215484
ENSG00000138411	"HECW2, NEDL2, KIAA1301, NDHSAL"	617245	"Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3)"	617268	27389779
ENSG00000138435	"CHRNA1, ACHRD, CMS1B, CMS1A"	100690	"Multiple pterygium syndrome, lethal type, 253290 (3)"	253290	18252226
ENSG00000138435	"CHRNA1, ACHRD, CMS1B, CMS1A"	100690	"Myasthenic syndrome, congenital, 1A, slow-channel, 601462 (3)"	601462	7619526
ENSG00000138435	"CHRNA1, ACHRD, CMS1B, CMS1A"	100690	"Myasthenic syndrome, congenital, 1B, fast-channel, 608930 (3)"	608930	10195214
ENSG00000138449	SLC40A1	604653	"Hemochromatosis, type 4, 606069 (3)"	606069	11431687
ENSG00000138463	"DIRC2, RCC4"	602773	"Renal cell carcinoma, 144700 (1)"	144700	11996788
ENSG00000138622	HCN4	605206	"Brugada syndrome 8, 613123 (3)"	613123	19165230
ENSG00000138622	"HCN4, SSS2"	605206	"Sick sinus syndrome 2, 163800 (3)"	163800	12750403
ENSG00000138675	"FGF5, TCMGLY"	165190	"Trichomegaly, 190330 (3)"	190330	24989505
ENSG00000138684	IL21	605384	"?Immunodeficiency, common variable, 11, 615767 (3)"	615767	24746753
ENSG00000138686	BBS7	607590	"Bardet-Biedl syndrome 7, 615984 (3)"	615984	12567324
ENSG00000138696	BMPR1B	603248	"Brachydactyly, type A1, D, 616849 (3)"	616849	25758993
ENSG00000138696	BMPR1B	603248	"Acromesomelic dysplasia, Demirhan type, 609441 (3)"	609441	15805157
ENSG00000138738	PRDM5	614161	"Brittle cornea syndrome 2, 614170 (3)"	614170	21664999
ENSG00000138741	TRPC3	602345	"?Spinocerebellar ataxia 41, 616410 (3)"	616410	25477146
ENSG00000138760	SCARB2	602257	"Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)"	254900	18308289
ENSG00000138777	PPA2	609988	"?Sudden cardiac failure, alcohol-induced, 617223 (3)"	617223	27523597
ENSG00000138777	"PPA2, SCFI, SCFAI"	609988	"Sudden cardiac failure, infantile, 617222 (3)"	617222	27523598
ENSG00000138778	CENPE	117143	"?Microcephaly 13, primary, autosomal recessive, 616051 (3)"	616051	24748105
ENSG00000138796	HADH	601609	"3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)"	231530	"O'Brien, L. K., Rinaldo, P., Sims, H. F., Alonso, E. M., Charrow, J., Jones, P. M., Bennett, M. J., Barycki, J. J., Banaszak, L. J., Strauss, A. W. Fulminant hepatic failure associated with mutations in the medium and short chain L-3-hydroxyacyl-CoA dehydrogenase gene. (Abstract) J. Inherit. Metab. Dis. 23 (suppl. 1): 127 only, 2000."
ENSG00000138796	HADH	601609	"Hyperinsulinemic hypoglycemia, familial, 4, 609975 (3)"	609975	11489939
ENSG00000138798	EGF	131530	"Hypomagnesemia 4, renal, 611718 (3)"	611718	17671655
ENSG00000138821	SLC39A8	608732	"Congenital disorder of glycosylation, type IIn, 616721 (3)"	616721	26637978
ENSG00000138823	MTTP	157147	"Abetalipoproteinemia, 200100 (3)"	200100	8111381
ENSG00000138829	FBN2	612570	"Contractural arachnodactyly, congenital, 121050 (3)"	121050	9106527
ENSG00000138829	"FBN2, CCA, EOMD"	612570	"Macular degeneration, early-onset, 616118 (3)"	616118	24899048
ENSG00000139053	PDE6H	601190	"Achromatopsia 6, 610024 (3)"	610024	15629837
ENSG00000139053	"PDE6H, RCD3, ACHM6"	601190	"Retinal cone dystrophy 3, 610024 (3)"	610024	15629837
ENSG00000139083	"ETV6, TEL, THC5"	600618	"Thrombocytopenia 5, 616216 (3)"	616216	25581430
ENSG00000139116	KIF21A	608283	"Fibrosis of extraocular muscles, congenital, 1, 135700 (3)"	135700	14595441
ENSG00000139116	KIF21A	608283	"Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)"	135700	15223798
ENSG00000139131	"YARS2, TYRRS, MLASA2"	610957	"Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)"	613561	20598274
ENSG00000139132	FGD4	611104	"Charcot-Marie-Tooth disease, type 4H, 609311 (3)"	609311	"17564959, 17564972"
ENSG00000139151	PLCZ1	608075	"?Spermatogenic failure 17, 617214 (3)"	617214	26721930
ENSG00000139174	PRICKLE1	608500	"Epilepsy, progressive myoclonic 1B, 612437 (3)"	612437	18976727
ENSG00000139180	NDUFA9	603834	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	22114105
ENSG00000139190	"VAMP1, SYB1, SPAX1"	185880	"Spastic ataxia 1, autosomal dominant, 108600 (3)"	108600	22958904
ENSG00000139193	"TNFRSF7, CD27, S152. LPFS2"	186711	"Lymphoproliferative syndrome 2, 615122 (3)"	615122	22197273
ENSG00000139197	"PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5"	600414	"Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)"	214110	7719337
ENSG00000139197	"PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5"	600414	"Peroxisome biogenesis disorder 2B, 202370 (3)"	202370	7719337
ENSG00000139197	"PEX5, PXR1, PTS1R, PBD2A, PBD2B, RCDP5"	600414	"Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)"	616716	26220973
ENSG00000139219	COL2A1	120140	"Achondrogenesis, type II or hypochondrogenesis, 200610 (3)"	200610	2572591
ENSG00000139219	COL2A1	120140	"Avascular necrosis of the femoral head, 608805 (3)"	608805	15930420
ENSG00000139219	COL2A1	120140	"Czech dysplasia, 609162 (3)"	609162	8244341
ENSG00000139219	COL2A1	120140	"Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)"	132450	9800905
ENSG00000139219	COL2A1	120140	"Kniest dysplasia, 156550 (3)"	156550	7981752
ENSG00000139219	COL2A1	120140	"Legg-Calve-Perthes disease, 150600 (3)"	150600	17394019
ENSG00000139219	COL2A1	120140	"Osteoarthritis with mild chondrodysplasia, 604864 (3)"	604864	1975693
ENSG00000139219	COL2A1	120140	"Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)"	151210	14729840
ENSG00000139219	COL2A1	120140	"SED congenita, 183900 (3)"	183900	2543071
ENSG00000139219	COL2A1	120140	"SMED Strudwick type, 184250 (3)"	184250	7550321
ENSG00000139219	COL2A1	120140	"Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)"	616583	26183434
ENSG00000139219	COL2A1	120140	"Spondyloperipheral dysplasia, 271700 (3)"	271700	8723097
ENSG00000139219	COL2A1	120140	"Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)"	609508	16752401
ENSG00000139219	COL2A1	120140	"Stickler syndrome, type I, 108300 (3)"	108300	8434604
ENSG00000139304	PTPRQ	603317	"Deafness, autosomal recessive 84A, 613391 (3)"	613391	20346435
ENSG00000139318	DUSP6	602748	"Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)"	615269	23643382
ENSG00000139323	POC1B	614784	"Cone-rod dystrophy 20, 615973 (3)"	615973	25018096
ENSG00000139324	"TMTC3, SMILE, LIS8"	617218	"Lissencephaly 8, 617255 (3)"	617255	27773428
ENSG00000139330	KERA	603288	"Cornea plana 2, autosomal recessive, 217300 (3)"	217300	10802664
ENSG00000139351	"SYCP3, SCP3, COR1, SPGF4, RPRGL4"	604759	"Pregnancy loss, recurrent, 4, 270960 (3)"	270960	19110213
ENSG00000139351	"SYCP3, SCP3, COR1, SPGF4, RPRGL4"	604759	"Spermatogenic failure 4, 270960 (3)"	270960	14643120
ENSG00000139352	ASCL1	100790	"Haddad syndrome, 209880 (3)"	209880	14532329
ENSG00000139428	MMAB	607568	"Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)"	251110	12438653
ENSG00000139515	"PDX1, IPF1, MODY4, PAGEN1"	600733	"Pancreatic agenesis 1, 260370 (3)"	260370	8988180
ENSG00000139531	SUOX	606887	"Sulfite oxidase deficiency, 272300 (3)"	272300	9428520
ENSG00000139537	CCDC65	611088	"Ciliary dyskinesia, primary, 27, 615504 (3)"	615504	"24094744, 23991085"
ENSG00000139540	"SLC39A5, MYP24"	608730	"Myopia 24, autosomal dominant, 615946 (3)"	615946	24891338
ENSG00000139549	DHH	605423	"46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)"	607080	11017805
ENSG00000139549	DHH	605423	"46XY sex reversal 7, 233420 (3)"	233420	15356051
ENSG00000139567	"ACVRL1, ACVRLK1, ALK1, HHT2"	601284	"Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)"	600376	8640225
ENSG00000139618	BRCA2	600185	"Fanconi anemia, complementation group D1, 605724 (3)"	605724	12065746
ENSG00000139618	"BRCA2, FANCD1, BROVCA2, GLM3, PNCA2"	600185	"Wilms tumor, 194070 (3)"	194070	15689453
ENSG00000139648	KRT71	608245	"?Hypotrichosis 13, 615896 (3)"	615896	22592156
ENSG00000139679	LPAR6	609239	"Hypotrichosis 8, 278150 (3)"	278150	18297072
ENSG00000139679	"LPAR6, P2RY5, P2Y5, LAH3, ARWH1, HYPT8"	609239	"Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150 (3)"	278150	18297072
ENSG00000139687	RB1	614041	"Retinoblastoma, 180200 (3)"	180200	7795591
ENSG00000139719	"VPS33A, MPSPS"	610034	"Mucopolysaccharidosis-plus syndrome, 617303 (3)"	617303	27547915
ENSG00000139734	DIAPH3	614567	"Auditory neuropathy, autosomal dominant, 1, 609129 (3)"	609129	20624953
ENSG00000139988	"RDH12, LCA13"	608830	"Leber congenital amaurosis 13, 612712 (3)"	612712	15258582
ENSG00000140090	SLC24A4	609840	"Amelogenesis imperfecta, type IIA5, 615887 (3)"	615887	23375655
ENSG00000140092	FBLN5	604580	"Cutis laxa, autosomal dominant 2, 614434 (3)"	614434	12618961
ENSG00000140092	FBLN5	604580	"Cutis laxa, autosomal recessive, type IA, 219100 (3)"	219100	12189163
ENSG00000140092	"FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD"	604580	"Macular degeneration, age-related, 3, 608895 (3)"	608895	21576112
ENSG00000140092	"FBLN5, ARMD3, ADCL2, ARCL1A, HNARMD"	604580	"Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)"	608895	21576112
ENSG00000140199	SLC12A6	604878	"Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)"	218000	12368912
ENSG00000140262	TCF12	600480	"Craniosynostosis 3, 615314 (3)"	615314	23354436
ENSG00000140274	"DUOXA2, TDH5"	612772	"Thyroid dyshormonogenesis 5, 274900 (3)"	274900	18042646
ENSG00000140279	"DUOX2, THOX2, TDH6"	606759	"Thyroid dyshormonogenesis 6, 607200 (3)"	607200	12110737
ENSG00000140326	CDAN1	607465	"Dyserythropoietic anemia, congenital, type Ia, 224120 (3)"	224120	12434312
ENSG00000140368	"PSTPIP1, PSTPIP, CD2BP1, PAPAS"	606347	"Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, 604416 (3)"	604416	11971877
ENSG00000140416	TPM1	191010	"Cardiomyopathy, dilated, 1Y, 611878 (3)"	611878	11273725
ENSG00000140416	"TPM1, CMH3, CMD1Y , LVNC9"	191010	"Left ventricular noncompaction 9, 611878 (3)"	611878	11273725
ENSG00000140443	IGF1R	147370	"Insulin-like growth factor I, resistance to, 270450 (3)"	270450	14657428
ENSG00000140459	CYP11A1	118485	"Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)"	613743	11502818
ENSG00000140463	BBS4	600374	"Bardet-Biedl syndrome 4, 615982 (3)"	615982	11381270
ENSG00000140470	ADAMTS17	607511	"Weill-Marchesani-like syndrome, 613195 (3)"	613195	19836009
ENSG00000140471	"LINS1, WINS1, FLJ10583, MRT27"	610350	"Mental retardation, autosomal recessive 27, 614340 (3)"	614340	21937992
ENSG00000140521	"POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS"	174763	"Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)"	203700	15122711
ENSG00000140521	"POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS"	174763	"Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)"	613662	12825077
ENSG00000140521	"POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS"	174763	"Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)"	607459	12565911
ENSG00000140521	"POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS"	174763	"Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3)"	157640	11756592
ENSG00000140521	"POLG, POLG1, POLGA, PEO, SANDO, SCAE, MTDPS4A, MTDPS4B, MIRAS"	174763	"Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)"	258450	11431686
ENSG00000140522	RLBP1	180090	"Bothnia retinal dystrophy, 607475 (3)"	607475	10102298
ENSG00000140522	RLBP1	180090	"Newfoundland rod-cone dystrophy, 607476 (3)"	607476	11868161
ENSG00000140522	RLBP1	180090	"Retinitis punctata albescens, 136880 (3)"	136880	14718298
ENSG00000140525	FANCI	611360	"Fanconi anemia, complementation group I, 609053 (3)"	609053	17452773
ENSG00000140623	"SEPT12, SPGF10"	611562	"Spermatogenic failure 10, 614822 (3)"	614822	22479503
ENSG00000140650	PMM2	601785	"Congenital disorder of glycosylation, type Ia, 212065 (3)"	212065	9140401
ENSG00000140675	"SLC5A2, SGLT2"	182381	"Renal glucosuria, 233100 (3)"	233100	12436245
ENSG00000140691	ARMC5	615549	"ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)"	615954	24283224
ENSG00000140694	PARN	604212	"Dyskeratosis congenita, autosomal recessive 6, 616353 (3)"	616353	25893599
ENSG00000140718	FTO	610966	"Growth retardation, developmental delay, facial dysmorphism, 612938 (3)"	612938	19559399
ENSG00000140740	"UQCRC2, MC3DN5"	191329	"Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)"	615160	23281071
ENSG00000140854	"KATNB1, LIS6"	602703	"Lissencephaly 6, with microcephaly, 616212 (3)"	616212	25521378
ENSG00000140873	"ADAMTS18, MMCAT"	607512	"Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)"	615458	23818446
ENSG00000140939	"NOL3, NOP, MYC, ARC, FCM"	605235	"Myoclonus, familial cortical, 614937 (3)"	614937	22926851
ENSG00000140968	IRF8	601565	"Immunodeficiency 32A, mycobacteriosis, autosomal dominant, 614893 (3)"	614893	21524210
ENSG00000140968	IRF8	601565	"Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, 614894 (3)"	614894	21524210
ENSG00000141012	"GALNS, MPS4A"	612222	"Mucopolysaccharidosis IVA, 253000 (3)"	253000	8651279
ENSG00000141013	GAS8	605178	"Ciliary dyskinesia, primary, 33, 616726 (3)"	616726	26387594
ENSG00000141161	UNC45B	611220	"?Cataract 43, 616279 (3)"	616279	24549050
ENSG00000141252	"VPS53, HCCS1, PCH2E"	615850	"Pontocerebellar hypoplasia, type 2E, 615851 (3)"	615851	24577744
ENSG00000141349	G6PC3	611045	"Dursun syndrome, 612541 (3)"	612541	19118303
ENSG00000141349	"G6PC3, UGRP, SCN4"	611045	"Neutropenia, severe congenital 4, autosomal recessive, 612541 (3)"	612541	19118303
ENSG00000141378	PTRH2	608625	"Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3)"	616263	25574476
ENSG00000141384	TAF4B	601689	"?Spermatogenic failure 13, 615841 (3)"	615841	24431330
ENSG00000141385	"AFG3L2, SCA28, SPAX5"	604581	"Spastic ataxia 5, autosomal recessive, 614487 (3)"	614487	22022284
ENSG00000141385	"AFG3L2, SCA28, SPAX5"	604581	"Spinocerebellar ataxia 28, 610246 (3)"	610246	20208537
ENSG00000141404	GNAL	139312	"Dystonia 25, 615073 (3)"	615073	23222958
ENSG00000141431	ASXL3	615115	"Bainbridge-Ropers syndrome, 615485 (3)"	615485	23383720
ENSG00000141448	GATA6	601656	"Atrial septal defect 9, 614475 (3)"	614475	20631719
ENSG00000141448	GATA6	601656	"Atrioventricular septal defect 5, 614474 (3)"	614474	20581743
ENSG00000141448	"GATA6, AVSD5, ASD9, AVSD5, PACHD"	601656	"Pancreatic agenesis and congenital heart defects, 600001 (3)"	600001	22158542
ENSG00000141448	"GATA6, AVSD5, ASD9, AVSD5, PACHD"	601656	"Persistent truncus arteriosus, 217095 (3)"	217095	19666519
ENSG00000141448	"GATA6, AVSD5, ASD9, AVSD5, PACHD"	601656	"Tetralogy of Fallot, 187500 (3)"	187500	20581743
ENSG00000141458	"NPC1, NPC"	607623	"Niemann-Pick disease, type C1, 257220 (3)"	257220	9211849
ENSG00000141458	"NPC1, NPC"	607623	"Niemann-Pick disease, type D, 257220 (3)"	257220	9634529
ENSG00000141485	SLC13A5	608305	"Epileptic encephalopathy, early infantile, 25, 615905 (3)"	615905	24995870
ENSG00000141497	ZMYND15	614312	"?Spermatogenic failure 14, 615842 (3)"	615842	24431330
ENSG00000141499	WRAP53	612661	"Dyskeratosis congenita, autosomal recessive 3, 613988 (3)"	613988	21205863
ENSG00000141506	PIK3R5	611317	"Ataxia-oculomotor apraxia 3, 615217 (3)"	615217	22065524
ENSG00000141510	TP53	191170	"Adrenal cortical carcinoma, 202300 (3)"	202300	12619118
ENSG00000141510	TP53	191170	"Choroid plexus papilloma, 260500 (3)"	260500	10556283
ENSG00000141510	"TP53, P53, LFS1 , BCC7"	191170	"Li-Fraumeni syndrome, 151623 (3)"	151623	1978757
ENSG00000141510	"TP53, P53, LFS1 , BCC7"	191170	"Osteosarcoma, 259500 (3)"	259500	19286668
ENSG00000141519	CCDC40	613799	"Ciliary dyskinesia, primary, 15, 613808 (3)"	613808	21131974
ENSG00000141522	"ARHGDIA, GDIA1, NPHS8"	601925	"Nephrotic syndrome, type 8, 615244 (3)"	615244	23434736
ENSG00000141527	"CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP"	607211	"Pityriasis rubra pilaris, 173200 (3)"	173200	22703878
ENSG00000141527	"CARD14, CARMA2, BIMP2, PSORS2, PSS1, PRP"	607211	"Psoriasis 2, 602723 (3)"	602723	22521418
ENSG00000141543	"DDX48, EIF4A3, MUK34, NMP265, KIAA0111, RCPS"	608546	"Robin sequence with cleft mandible and limb anomalies, 268305 (3)"	268305	24360810
ENSG00000141551	CSNK1D	600864	"Advanced sleep-phase syndrome, familial, 2, 615224 (3)"	615224	15800623
ENSG00000141556	TBCD	604649	"Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)"	617193	27666374
ENSG00000141579	"ZNF750, FLJ13841"	610226	"Seborrhea-like dermatitis with psoriasiform elements, 610227 (3)"	610227	16751772
ENSG00000141627	DYM	607461	"Dyggve-Melchior-Clausen disease, 223800 (3)"	223800	12554689
ENSG00000141627	"DYM, FLJ90130, DMC, SMC"	607461	"Smith-McCort dysplasia, 607326 (3)"	607326	12491225
ENSG00000141646	SMAD4	600993	"Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)"	175050	15031030
ENSG00000141646	"SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS"	600993	"Myhre syndrome, 139210 (3)"	139210	22158539
ENSG00000141646	"SMAD4, MADH4, DPC4, SMAD4, JIP, MYHRS"	600993	"Polyposis, juvenile intestinal, 174900 (3)"	174900	9582123
ENSG00000141655	"TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2"	603499	"{Paget disease of bone 2, early-onset}, 602080 (3)"	602080	10615125
ENSG00000141655	"TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2"	603499	"Osteolysis, familial expansile, 174810 (3)"	174810	10615125
ENSG00000141655	"TNFRSF11A, RANK, ODFR, FEO, OPTB7, PDB2"	603499	"Osteopetrosis, autosomal recessive 7, 612301 (3)"	612301	18606301
ENSG00000141756	FKBP10	607063	"Bruck syndrome 1, 259450 (3)"	259450	20696291
ENSG00000141756	"FKBP10, FKBP65, OI11, BRKS1"	607063	"Osteogenesis imperfecta, type XI, 610968 (3)"	610968	20362275
ENSG00000141759	TXNL4A	611595	"Burn-McKeown syndrome, 608572 (3)"	608572	25434003
ENSG00000141837	CACNA1A	601011	"Epileptic encephalopathy, early infantile, 42, 617106 (3)"	617106	27476654
ENSG00000141837	CACNA1A	601011	"Episodic ataxia, type 2, 108500 (3)"	108500	8898206
ENSG00000141837	"CACNA1A, CACNL1A4, SCA6, EIEE42"	601011	"Migraine, familial hemiplegic, 1, 141500 (3)"	141500	8898206
ENSG00000141837	"CACNA1A, CACNL1A4, SCA6, EIEE42"	601011	"Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)"	141500	9915947
ENSG00000141837	"CACNA1A, CACNL1A4, SCA6, EIEE42"	601011	"Spinocerebellar ataxia 6, 183086 (3)"	183086	8988170
ENSG00000142156	"COL6A1, BTHLM1, UCHMD1"	120220	"Ullrich congenital muscular dystrophy 1, 254090 (3)"	254090	12840783
ENSG00000142168	SOD1	147450	"Amyotrophic lateral sclerosis 1, 105400 (3)"	105400	8446170
ENSG00000142173	COL6A2	120240	"?Myosclerosis, congenital, 255600 (3)"	255600	18852439
ENSG00000142173	"COL6A2, BTHLM1, UCMD1"	120240	"Ullrich congenital muscular dystrophy 1, 254090 (3)"	254090	11381124
ENSG00000142178	SIK1	605705	"Epileptic encephalopathy, early infantile, 30, 616341 (3)"	616341	25839329
ENSG00000142186	"SCYL1, NTKL, SCAR21"	607982	"Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)"	616719	26581903
ENSG00000142192	APP	104760	"Alzheimer disease 1, familial, 104300 (3)"	104300	"1671712, 1678058, 1908231"
ENSG00000142192	APP	104760	"Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3)"	605714	2111584
ENSG00000142208	AKT1	164730	"Cowden syndrome 6, 615109 (3)"	615109	23246288
ENSG00000142303	"ADAMTS10, WMS1"	608990	"Weill-Marchesani syndrome 1, recessive, 277600 (3)"	277600	15368195
ENSG00000142405	NLRP12	609648	"Familial cold autoinflammatory syndrome 2, 611762 (3)"	611762	18230725
ENSG00000142513	ACPT	606362	"Amelogenesis imperfecta, type IJ, 617297 (3)"	617297	27843125
ENSG00000142599	"RERE, NEDBEH"	605226	"Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)"	616975	27087320
ENSG00000142611	PRDM16	605557	"Cardiomyopathy, dilated, 1LL, 615373 (3)"	615373	23768516
ENSG00000142611	"PRDM16, MEL1, LVNC8, CMD1LL"	605557	"Left ventricular noncompaction 8, 615373 (3)"	615373	23768516
ENSG00000142619	"PADI3, UHS1"	606755	"Uncombable hair syndrome, 191480 (3)"	191480	27866708
ENSG00000142627	EPHA2	176946	"Cataract 6, multiple types, 116600 (3)"	116600	19005574
ENSG00000142655	"PEX14, PBD13A"	601791	"Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)"	614887	15146459
ENSG00000142676	RPL11	604175	"Diamond-Blackfan anemia 7, 612562 (3)"	612562	19061985
ENSG00000142731	"PLK4, STK18, SAK, MCCRP2"	605031	"Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)"	616171	25344692
ENSG00000142748	FCN3	604973	"Immunodeficiency due to ficolin 3 deficiency, 613860 (3)"	613860	19535802
ENSG00000142798	HSPG2	142461	"Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)"	224410	11279527
ENSG00000142798	"HSPG2, PLC, SJS, SJA, SJS1"	142461	"Schwartz-Jampel syndrome, type 1, 255800 (3)"	255800	11101850
ENSG00000142867	BCL10	603517	"?Immunodeficiency 37, 616098 (3)"	616098	25365219
ENSG00000142949	PTPRF	179590	"?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)"	616001	24781087
ENSG00000143061	IGSF3	603491	"?Lacrimal duct defect, 149700 (3)"	149700	24372406
ENSG00000143178	TBX19	604614	"Adrenocorticotropic hormone deficiency, 201400 (3)"	201400	11290323
ENSG00000143183	TMCO1	614123	"Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)"	213980	20018682
ENSG00000143217	NECTIN4	609607	"Ectodermal dysplasia-syndactyly syndrome 1, 613573 (3)"	613573	20691405
ENSG00000143224	PPOX	600923	"Porphyria variegata, 176200 (3)"	176200	8852667
ENSG00000143226	"FCGR2C, CD32C"	612169	"Thrombocytopenic purpura, autoimmune, 188030 (1)"	188030	17827395
ENSG00000143252	"SDHC, PGL3"	602413	"Paraganglioma and gastric stromal sarcoma, 606864 (3)"	606864	17804857
ENSG00000143252	"SDHC, PGL3"	602413	"Paragangliomas 3, 605373 (3)"	605373	11062460
ENSG00000143278	F13B	134580	"Factor XIIIB deficiency, 613235 (3)"	613235	8324218
ENSG00000143315	PIGM	610273	"Glycosylphosphatidylinositol deficiency, 610293 (3)"	610293	16767100
ENSG00000143318	"CASQ1, VMCQA"	114250	"Myopathy, vacuolar, with CASQ1 aggregates, 616231 (3)"	616231	25116801
ENSG00000143324	XPR1	605237	"Basal ganglia calcification, idiopathic, 6, 616413 (3)"	616413	25938945
ENSG00000143337	TOR1AIP1	614512	"?Muscular dystrophy, limb-girdle, type 2Y, 617072 (3)"	617072	24856141
ENSG00000143341	"HMCN1, FBLN6, FIBL6, ARMD1"	608548	"{Macular degeneration, age-related, 1}, 603075 (3)"	603075	16020313
ENSG00000143365	RORC	602943	"Immunodeficiency 42, 616622 (3)"	616622	26160376
ENSG00000143368	SF3B4	605593	"Acrofacial dysostosis 1, Nager type, 154400 (3)"	154400	22541558
ENSG00000143369	"ECM1, URBWD"	602201	"Urbach-Wiethe disease, 247100 (3)"	247100	11929856
ENSG00000143373	"ZNF687, KIAA1441, PDB6"	610568	"Paget disease of bone 6, 616833 (3)"	616833	26849110
ENSG00000143374	TARS2	612805	"?Combined oxidative phosphorylation deficiency 21, 615918 (3)"	615918	24827421
ENSG00000143382	ADAMTSL4	610113	"Ectopia lentis et pupillae, 225200 (3)"	225200	20702823
ENSG00000143382	ADAMTSL4	610113	"Ectopia lentis, isolated, autosomal recessive, 225100 (3)"	225100	19200529
ENSG00000143387	CTSK	601105	"Pycnodysostosis, 265800 (3)"	265800	8703060
ENSG00000143390	RFX5	601863	"Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)"	209920	"3934559, 12368908"
ENSG00000143390	RFX5	601863	"Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)"	209920	"3934559, 12368908"
ENSG00000143442	"POGZ, KIAA0461, MRD37, WHSUS"	614787	"White-Sutton syndrome, 616364 (3)"	616364	25533962
ENSG00000143469	"SYT14, SCAR11"	610949	"Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)"	614229	21835308
ENSG00000143473	"KCNH1, EAG, TMBTS, ZLS1"	603305	"Temple-Baraitser syndrome, 611816 (3)"	611816	25420144
ENSG00000143473	"KCNH1, EAG, TMBTS, ZLS1"	603305	"Zimmermann-Laband syndrome 1, 135500 (3)"	135500	25915598
ENSG00000143549	TPM3	191030	"CAP myopathy 1, 609284 (3)"	609284	7704029
ENSG00000143549	"TPM3, NEM1, CFTD, CAPM1"	191030	"Myopathy, congenital, with fiber-type disproportion, 255310 (3)"	255310	18300303
ENSG00000143549	"TPM3, NEM1, CFTD, CAPM1"	191030	"Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)"	609284	7704029
ENSG00000143575	"HAX1, SCN3"	605998	"Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)"	610738	17187068
ENSG00000143614	"GATAD2B, KIAA1150, p68, MRD18"	614998	"Mental retardation, autosomal dominant 18, 615074 (3)"	615074	23033978
ENSG00000143622	"RIT1, RIT, ROC1, NS8"	609591	"Noonan syndrome 8, 615355 (3)"	615355	23791108
ENSG00000143627	PKLR	609712	"Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)"	102900	9090535
ENSG00000143627	"PKLR, PK1"	609712	"Pyruvate kinase deficiency, 266200 (3)"	266200	1896471
ENSG00000143631	FLG	135940	"Ichthyosis vulgaris, 146700 (3)"	146700	16444271
ENSG00000143632	ACTA1	102610	"?Myopathy, scapulohumeroperoneal, 616852 (3)"	616852	25938801
ENSG00000143632	"ACTA1, ASMA, NEM3, CFTD1, SHPM"	102610	"Myopathy, actin, congenital, with cores, 161800 (3)"	161800	10508519
ENSG00000143632	"ACTA1, ASMA, NEM3, CFTD1, SHPM"	102610	"Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3)"	161800	10508519
ENSG00000143632	"ACTA1, ASMA, NEM3, CFTD1, SHPM"	102610	"Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)"	255310	15468086
ENSG00000143632	"ACTA1, ASMA, NEM3, CFTD1, SHPM"	102610	"Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3)"	161800	10508519
ENSG00000143669	LYST	606897	"Chediak-Higashi syndrome, 214500 (3)"	214500	"9215680, 9215679"
ENSG00000143801	PSEN2	600759	"Alzheimer disease-4, 606889 (3)"	606889	7638622
ENSG00000143801	PSEN2	600759	"Cardiomyopathy, dilated, 1V, 613697 (3)"	613697	17186461
ENSG00000143811	"PYCR2, HLD10"	616406	"Leukodystrophy, hypomyelinating, 10, 616420 (3)"	616420	25865492
ENSG00000143815	LBR	600024	"?Reynolds syndrome, 613471 (3)"	613471	20522425
ENSG00000143815	LBR	600024	"Greenberg skeletal dysplasia, 215140 (3)"	215140	12618959
ENSG00000143815	"LBR, PHA"	600024	"Pelger-Huet anomaly, 169400 (3)"	169400	12118250
ENSG00000143839	REN	179820	"Hyperuricemic nephropathy, familial juvenile 2, 613092 (3)"	613092	19664745
ENSG00000143839	"REN, HNFJ2"	179820	"Renal tubular dysgenesis, 267430 (3)"	267430	16116425
ENSG00000143858	"SYT2, CMS7, MYSPC"	600104	"Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)"	616040	25192047
ENSG00000143921	"ABCG8, GBD4"	605460	"Sitosterolemia, 210250 (3)"	210250	11099417
ENSG00000143933	"CALM2, LQT15"	114182	"Long QT syndrome 15, 616249 (3)"	616249	23388215
ENSG00000143951	WDPCP	613580	"?Bardet-Biedl syndrome 15, 615992 (3)"	615992	20671153
ENSG00000143951	WDPCP	613580	"?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3)"	217085	25427950
ENSG00000143970	"ASXL2, KIAA1685, SHAPNS"	612991	"Shashi-Pena syndrome, 617190 (3)"	617190	27693232
ENSG00000144028	"SNRNP200, ASCC3L1, KIAA0788, RP33"	601664	"Retinitis pigmentosa 33, 610359 (3)"	610359	19878916
ENSG00000144061	NPHP1	607100	"Joubert syndrome 4, 609583 (3)"	609583	15138899
ENSG00000144061	"NPHP1, NPH1, SLSN1, JBTS4"	607100	"Nephronophthisis 1, juvenile, 256100 (3)"	256100	"9361039, 9326933"
ENSG00000144061	"NPHP1, NPH1, SLSN1, JBTS4"	607100	"Senior-Loken syndrome-1, 266900 (3)"	266900	9856524
ENSG00000144182	"LIPT1, LIPT1D"	610284	"Lipoyltransferase 1 deficiency, 616299 (3)"	616299	24341803
ENSG00000144191	CNGA3	600053	"Achromatopsia 2, 216900 (3)"	216900	9662398
ENSG00000144285	SCN1A	182389	"Epilepsy, generalized, with febrile seizures plus, type 2, 604403 (3)"	604403	10742094
ENSG00000144285	SCN1A	182389	"Epileptic encephalopathy, early infantile, 6, 607208 (3)"	607208	11359211
ENSG00000144285	SCN1A	182389	"Febrile seizures, familial, 3A, 604403 (3)"	604403	16326807
ENSG00000144285	"SCN1A, GEFSP2, SMEI, FEB3A, EIEE6, FHM3"	182389	"Migraine, familial hemiplegic, 3, 609634 (3)"	609634	16054936
ENSG00000144354	CDCA7	609937	"Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3)"	616910	26216346
ENSG00000144381	"HSPD1, SPG13, HSP60, HLD4"	118190	"Leukodystrophy, hypomyelinating, 4, 612233 (3)"	612233	18571143
ENSG00000144381	"HSPD1, SPG13, HSP60, HLD4"	118190	"Spastic paraplegia 13, autosomal dominant, 605280 (3)"	605280	11898127
ENSG00000144406	UNC80	612636	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)"	616801	26708751
ENSG00000144452	ABCA12	607800	"Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3)"	242500	15756637
ENSG00000144452	ABCA12	607800	"Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)"	601277	"10094194, 8845852"
ENSG00000144455	"SUMF1, FGE"	607939	"Multiple sulfatase deficiency, 272200 (3)"	272200	"12757705, 12757706"
ENSG00000144535	"DIS3L2, PRLMNS"	614184	"Perlman syndrome, 267000 (3)"	267000	22306653
ENSG00000144554	FANCD2	613984	"Fanconi anemia, complementation group D2, 227646 (3)"	227646	11239453
ENSG00000144591	GMPPA	615495	"Alacrima, achalasia, and mental retardation syndrome, 615510 (3)"	615510	24035193
ENSG00000144647	"POMGNT2, GTDC2, C3orf39, AGO61, MDDGA8"	614828	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)"	614830	22958903
ENSG00000144659	SLC25A38	610819	"Anemia, sideroblastic, 2, pyridoxine-refractory, 205950 (3)"	205950	19412178
ENSG00000144730	IL17RD	606807	"Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3)"	615267	23643382
ENSG00000144741	SLC25A26	611037	"Combined oxidative phosphorylation deficiency 28, 616794 (3)"	616794	26522469
ENSG00000144891	"AGTR1, AGTR1A, AT2R1"	106165	"Renal tubular dysgenesis, 267430 (3)"	267430	16116425
ENSG00000144962	SPATA16	609856	"?Spermatogenic failure 6, 102530 (3)"	102530	17847006
ENSG00000145016	RUBCN	613516	"?Spinocerebellar ataxia, autosomal recessive 15, 615705 (3)"	615705	20826435
ENSG00000145075	CCDC39	613798	"Ciliary dyskinesia, primary, 14, 613807 (3)"	613807	21131972
ENSG00000145103	ILDR1	609739	"Deafness, autosomal recessive 42, 609646 (3)"	609646	21255762
ENSG00000145191	"EIF2B5, LVWM, CACH, CLE"	603945	"Leukoencephalopathy with vanishing white matter, 603896 (3)"	603896	17646634
ENSG00000145191	"EIF2B5, LVWM, CACH, CLE"	603945	"Ovarioleukodystrophy, 603896 (3)"	603896	11704758
ENSG00000145217	SLC26A1	610130	"?Nephrolithiasis, calcium oxalate, 167030 (3)"	167030	27210743
ENSG00000145244	"CORIN, CRN, TMPRSS10, ATC2, PEE5"	605236	"Preeclampsia/eclampsia 5, 614595 (3)"	614595	22437503
ENSG00000145331	"TRMT10A, RG9MTD2, MSSGM1"	616013	"Microcephaly, short stature, and impaired glucose metabolism 1, 616033 (3)"	616033	24204302
ENSG00000145335	"SNCA, NACP, PARK1, PARK4"	163890	"Parkinson disease 1, 168601 (3)"	168601	9197268
ENSG00000145335	"SNCA, NACP, PARK1, PARK4"	163890	"Parkinson disease 4, 605543 (3)"	605543	14593171
ENSG00000145348	TBCK	616899	"Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)"	616900	25558065
ENSG00000145354	"CISD2, WFS2, ZCD2, ERIS"	611507	"Wolfram syndrome 2, 604928 (3)"	604928	17846994
ENSG00000145362	ANK2	106410	"Cardiac arrhythmia, ankyrin-B-related, 600919 (3)"	600919	12571597
ENSG00000145362	"ANK2, LQT4"	106410	"Long QT syndrome 4, 600919 (3)"	600919	12571597
ENSG00000145375	SPATA5	613940	"Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3)"	616577	26299366
ENSG00000145476	CYP4V2	608614	"Bietti crystalline corneoretinal dystrophy, 210370 (3)"	210370	15042513
ENSG00000145494	NDUFS6	603848	"Mitochondrial complex I deficiency, 252010 (3)"	252010	15372108
ENSG00000145623	OSMR	601743	"Amyloidosis, primary localized cutaneous, 1, 105250 (3)"	105250	18179886
ENSG00000145675	PIK3R1	171833	"?Agammaglobulinemia 7, autosomal recessive, 615214 (3)"	615214	22351933
ENSG00000145675	PIK3R1	171833	"Immunodeficiency 36, 616005 (3)"	616005	25133428
ENSG00000145675	"PIK3R1, GRB1, AGM7, SHORT, IMD36"	171833	"SHORT syndrome, 269880 (3)"	269880	23810378
ENSG00000145715	RASA1	139150	"Capillary malformation-arteriovenous malformation, 608354 (3)"	608354	14639529
ENSG00000145715	"RASA1, GAP, CMAVM, PKWS"	139150	"Parkes Weber syndrome, 608355 (3)"	608355	14639529
ENSG00000145794	"MEGF10, KIAA1780, EMARDD"	612453	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)"	614399	22101682
ENSG00000145794	"MEGF10, KIAA1780, EMARDD"	612453	"Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3)"	614399	22101682
ENSG00000145868	"FBXO38, FBX38, MOKA, HMN2D"	608533	"Neuronopathy, distal hereditary motor, type IID, 615575 (3)"	615575	24207122
ENSG00000145888	GLRA1	138491	"Hyperekplexia, hereditary 1, autosomal dominant or recessive, 149400 (3)"	149400	8298642
ENSG00000145912	NHP2	606470	"Dyskeratosis congenita, autosomal recessive 2, 613987 (3)"	613987	18523010
ENSG00000145979	"TBC1D7, PIG51, TBC7, MGCPH"	612655	"Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000 (3)"	248000	23687350
ENSG00000145982	FARS2	611592	"?Spastic paraplegia 77, autosomal recessive, 617046 (3)"	617046	26553276
ENSG00000145982	FARS2	611592	"Combined oxidative phosphorylation deficiency 14, 614946 (3)"	614946	22499341
ENSG00000146021	"KLHL3, PHA2D"	605775	"Pseudohypoaldosteronism, type IID, 614495 (3)"	614495	22266938
ENSG00000146038	DCDC2	605755	"?Deafness, autosomal recessive 66, 610212 (3)"	610212	25601850
ENSG00000146038	"DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC"	605755	"Nephronophthisis 19, 616217 (3)"	616217	25557784
ENSG00000146038	"DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC"	605755	"Sclerosing cholangitis, neonatal, 617394 (3)"	617394	27319779
ENSG00000146070	"PLA2G7, PAFAH, PAFAD"	601690	"Platelet-activating factor acetylhydrolase deficiency, 614278 (3)"	614278	8675689
ENSG00000146085	"MUT, MCM"	609058	"Methylmalonic aciduria, mut(0) type, 251000 (3)"	251000	1977311
ENSG00000146282	"RARS2, RARSL, PCH6"	611524	"Pontocerebellar hypoplasia, type 6, 611523 (3)"	611523	17847012
ENSG00000146648	EGFR	131550	"?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)"	616069	24691054
ENSG00000146648	EGFR	131550	"Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)"	211980	18948947
ENSG00000146701	MDH2	154100	"Epileptic encephalopathy, early infantile, 51, 617339 (3)"	617339	27989324
ENSG00000146733	"PSPH, PSP, PSPHD"	172480	"Phosphoserine phosphatase deficiency, 614023 (3)"	614023	14673469
ENSG00000147044	CASK	300172	"FG syndrome 4, 300422 (3)"	300422	19200522
ENSG00000147044	"CASK, MICPCH, FGS4, CMG, MRXSNA"	300172	"Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 (3)"	300749	19165920
ENSG00000147044	"CASK, MICPCH, FGS4, CMG, MRXSNA"	300172	"Mental retardation, with or without nystagmus, 300422 (3)"	300422	19377476
ENSG00000147050	KDM6A	300128	"Kabuki syndrome 2, 300867 (3)"	300867	22197486
ENSG00000147050	"KDM6A, UTX, KABUK2"	300128	"Kabuki syndrome 2, 300867 (3)"	300867	22197486
ENSG00000147065	MSN	309845	"Immunodeficiency 50, 300988 (3)"	300988	27405666
ENSG00000147099	HDAC8	300269	"Cornelia de Lange syndrome 5, 300882 (3)"	300882	22889856
ENSG00000147100	SLC16A2	300095	"Allan-Herndon-Dudley syndrome, 300523 (3)"	300523	14661163
ENSG00000147123	"NDUFB11, LSDMCA3"	300403	"Linear skin defects with multiple congenital anomalies 3, 300952 (3)"	300952	25772934
ENSG00000147133	TAF1	313650	"Dystonia-Parkinsonism, X-linked, 314250 (3)"	314250	11714101
ENSG00000147133	"TAF1, TAF2A, CCG1, BA2R, DYT3, MRXS33"	313650	"Mental retardation, X-linked, syndromic 33, 300966 (3)"	300966	26637982
ENSG00000147140	"NONO, NRB54, MRXS34"	300084	"Mental retardation, X-linked, syndromic 34, 300967 (3)"	300967	26571461
ENSG00000147155	EBP	300205	"Chondrodysplasia punctata, X-linked dominant, 302960 (3)"	302960	"10391218, 10391219"
ENSG00000147155	"EBP, CDPX2, CPXD, CPX, MEND"	300205	"MEND syndrome, 300960 (3)"	300960	12503101
ENSG00000147168	IL2RG	308380	"Combined immunodeficiency, X-linked, moderate, 312863 (3)"	312863	7883965
ENSG00000147168	"IL2RG, SCIDX1, SCIDX, IMD4"	308380	"Severe combined immunodeficiency, X-linked, 300400 (3)"	300400	8462096
ENSG00000147180	"ZNF711, ZNF6, CMPX1, MRX97"	314990	"Mental retardation, X-linked 97, 300803 (3)"	300803	19377476
ENSG00000147202	"DIAPH2, DIA, POF2"	300108	"Premature ovarian failure, 300511 (3)"	300511	9497258
ENSG00000147224	PRPS1	311850	"Arts syndrome, 301835 (3)"	301835	17701896
ENSG00000147224	PRPS1	311850	"Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3)"	311070	17701900
ENSG00000147224	PRPS1	311850	"Deafness, X-linked 1, 304500 (3)"	304500	20021999
ENSG00000147224	PRPS1	311850	"Gout, PRPS-related, 300661 (3)"	300661	8253776
ENSG00000147224	"PRPS1, CMTX5, DFNX1, DFN2"	311850	"Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3)"	300661	8253776
ENSG00000147257	"GPC3, SDYS, SGBS1"	300037	"Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)"	312870	8589713
ENSG00000147274	RBMX	300199	"?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)"	300238	25256757
ENSG00000147316	MCPH1	607117	"Microcephaly 1, primary, autosomal recessive, 251200 (3)"	251200	12046007
ENSG00000147383	NSDHL	300275	"CHILD syndrome, 308050 (3)"	308050	10710235
ENSG00000147383	NSDHL	300275	"CK syndrome, 300831 (3)"	300831	19377476
ENSG00000147416	ATP6V1B2	606939	"Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3)"	124480	24913193
ENSG00000147416	"ATP6B1B2, ATP6B2, VPP3, DOOD, ZLS2"	606939	"Zimmermann-Laband syndrome 2, 616455 (3)"	616455	25915598
ENSG00000147437	GNRH1	152760	"?Hypogonadotropic hypogonadism 12 with or without anosmia, 614841 (3)"	614841	19535795
ENSG00000147465	STAR	600617	"Lipoid adrenal hyperplasia, 201710 (3)"	201710	7892608
ENSG00000147471	PLPBP	604436	"Epilepsy, early-onset, vitamin B6-dependent, 617290 (3)"	617290	27912044
ENSG00000147475	"ERLIN2, SPFH2, C8orf2, SPG18"	611605	"Spastic paraplegia 18, autosomal recessive, 611225 (3)"	611225	21330303
ENSG00000147647	DPYS	613326	"Dihydropyrimidinuria, 222748 (3)"	222748	9718352
ENSG00000147804	SLC39A4	607059	"Acrodermatitis enteropathica, 201100 (3)"	201100	12068297
ENSG00000147852	VLDLR	192977	"Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)"	224050	16080122
ENSG00000147889	"CDKN2A, MTS1, P16, MLM, CMM2"	600160	"Melanoma and neural system tumor syndrome, 155755 (3)"	155755	10797439
ENSG00000147889	"CDKN2A, MTS1, P16, MLM, CMM2"	600160	"Pancreatic cancer/melanoma syndrome, 606719 (3)"	606719	7666917
ENSG00000147894	C9orf72	614260	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)"	105550	"21944778, 21944779"
ENSG00000147955	SIGMAR1	601978	"?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)"	614373	21842496
ENSG00000147955	SIGMAR1	601978	"?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)"	605726	26078401
ENSG00000148019	CEP78	617110	"Cone-rod dystrophy and hearing loss, 617236 (3)"	617236	27588451
ENSG00000148053	NTRK2	600456	"?Obesity, hyperphagia, and developmental delay, 613886 (3)"	613886	15494731
ENSG00000148090	AUH	600529	"3-methylglutaconic aciduria, type I, 250950 (3)"	250950	12434311
ENSG00000148180	GSN	137350	"Amyloidosis, Finnish type, 105120 (3)"	105120	2176164
ENSG00000148204	CRB2	609720	"Focal segmental glomerulosclerosis 9, 616220 (3)"	616220	25557779
ENSG00000148204	"CRB2, FSGS9, VMCKD"	609720	"Ventriculomegaly with cystic kidney disease, 219730 (3)"	219730	25557780
ENSG00000148218	"ALAD, ALADH, PBGS"	125270	"Porphyria, acute hepatic, 612740 (3)"	612740	2063868
ENSG00000148290	SURF1	185620	"Charcot-Marie-Tooth disease, type 4K, 616684 (3)"	616684	24027061
ENSG00000148290	"SURF1, CMT4K"	185620	"Leigh syndrome, due to COX IV deficiency, 256000 (3)"	256000	9843204
ENSG00000148356	LRSAM1	610933	"Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)"	614436	20865121
ENSG00000148384	INPP5E	613037	"Joubert syndrome 1, 213300 (3)"	213300	19668216
ENSG00000148384	"INPP5E, MORMS, JBTS1, CORS1"	613037	"Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)"	610156	19668215
ENSG00000148400	NOTCH1	190198	"Adams-Oliver syndrome 5, 616028 (3)"	616028	25132448
ENSG00000148400	NOTCH1	190198	"Aortic valve disease 1, 109730 (3)"	109730	16025100
ENSG00000148408	CACNA1B	601012	"?Dystonia 23, 614860 (3)"	614860	25296916
ENSG00000148459	PDSS1	607429	"Coenzyme Q10 deficiency, primary, 2, 614651 (3)"	614651	17332895
ENSG00000148516	ZEB1	189909	"Corneal dystrophy, posterior polymorphous, 3, 609141 (3)"	609141	16252232
ENSG00000148600	CDHR1	609502	"Cone-rod dystrophy 15, 613660 (3)"	613660	"20087419, 20805371"
ENSG00000148600	"CDHR1, PCDH21, PRCAD, CORD15, RP65"	609502	"Retinitis pigmentosa 65, 613660 (3)"	613660	20805371
ENSG00000148604	"RGR, RP44"	600342	"Retinitis pigmentosa 44, 613769 (3)"	613769	10581022
ENSG00000148606	"POLR3A, RPC1, RPC155, ADDH, HLD7"	614258	"Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)"	607694	21855841
ENSG00000148655	LRMDA	614537	"Albinism, oculocutaneous, type VII, 615179 (3)"	615179	23395477
ENSG00000148672	GLUD1	138130	"Hyperinsulinism-hyperammonemia syndrome, 606762 (3)"	606762	9571255
ENSG00000148700	ADD3	601568	"Cerebral palsy, spastic quadriplegic, 3, 617008 (3)"	617008	23836506
ENSG00000148702	HABP2	603924	"{?Thyroid cancer, nonmedullary, 5}, 616535 (3)"	616535	26222560
ENSG00000148704	VAX1	604294	"?Microphthalmia, syndromic 11, 614402 (3)"	614402	22095910
ENSG00000148795	CYP17A1	609300	"17,20-lyase deficiency, isolated, 202110 (3)"	202110	9326943
ENSG00000148795	CYP17A1	609300	"17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)"	202110	2843762
ENSG00000148842	CNNM2	607803	"Hypomagnesemia 6, renal, 613882 (3)"	613882	21397062
ENSG00000148842	CNNM2	607803	"Hypomagnesemia, seizures, and mental retardation, 616418 (3)"	616418	24699222
ENSG00000148985	PGAP2	615187	"Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)"	614207	23561846
ENSG00000149131	SERPING1	606860	"Angioedema, hereditary, types I and II, 106100 (3)"	106100	2723063
ENSG00000149131	SERPING1	606860	"Complement component 4, partial deficiency of, 120790 (3)"	120790	7883978
ENSG00000149196	"C11orf73, HIKESHI, HLD13"	614908	"Leukodystrophy, hypomyelinating, 13, 616881 (3)"	616881	26545878
ENSG00000149256	"TENM4, ODZ4, TNM4, DOC4, KIAA1302, ETM5"	610084	"Tremor, hereditary essential, 5, 616736 (3)"	616736	26188006
ENSG00000149257	"SERPINH1, SERPINH2, PPROM, CBP2, CBP1, OI10"	600943	"Osteogenesis imperfecta, type X, 613848 (3)"	613848	20188343
ENSG00000149260	"CAPN5, HTRA3, VRNI"	602537	"Vitreoretinopathy, neovascular inflammatory, 193235 (3)"	193235	23055945
ENSG00000149311	ATM	607585	"Ataxia-telangiectasia, 208900 (3)"	208900	7792600
ENSG00000149418	ST14	606797	"Ichthyosis, congenital, autosomal recessive 11, 602400 (3)"	602400	17273967
ENSG00000149483	TMEM138	614459	"Joubert syndrome 16, 614465 (3)"	614465	22282472
ENSG00000149489	"ROM1, ROSP1, RP7"	180721	"Retinitis pigmentosa 7, digenic, 608133 (3)"	608133	8202715
ENSG00000149506	"ZP1, OOMD1"	195000	"Oocyte maturation defect 1, 615774 (3)"	615774	24670168
ENSG00000149541	"B3GAT3, GLCATI, JDSCD"	606374	"Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3)"	245600	21763480
ENSG00000149571	"KIRREL3, NEPH2, KIAA1867, KIRRE, MRD4"	607761	"Mental retardation, autosomal dominant 4, 612581 (3)"	612581	19012874
ENSG00000149575	SCN2B	601327	"Atrial fibrillation, familial, 14, 615378 (3)"	615378	19808477
ENSG00000149781	"KIND3, URP2, MIG2B, FERMT3"	607901	"Leukocyte adhesion deficiency, type III, 612840 (3)"	612840	19234463
ENSG00000149922	"TBX6, SCDO5"	602427	"Spondylocostal dysostosis 5, 122600 (3)"	122600	23335591
ENSG00000149925	ALDOA	103850	"Glycogen storage disease XII, 611881 (3)"	611881	2825199
ENSG00000150275	PCDH15	605514	"Deafness, autosomal recessive 23, 609533 (3)"	609533	14570705
ENSG00000150275	"PCDH15, DFNB23, USH1F"	605514	"Usher syndrome, type 1D/F digenic, 601067 (3)"	601067	15537665
ENSG00000150275	"PCDH15, DFNB23, USH1F"	605514	"Usher syndrome, type 1F, 602083 (3)"	602083	11398101
ENSG00000150540	"HNMT, MRT51"	605238	"Mental retardation, autosomal recessive 51, 616739 (3)"	616739	26206890
ENSG00000150630	"VEGFC, VRP, LMPH1D"	601528	"Lymphedema, hereditary, ID, 615907 (3)"	615907	23410910
ENSG00000150753	"CCT5, KIAA0098, CCTE"	610150	"Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)"	256840	16399879
ENSG00000150768	"DLAT, PDCE2"	608770	"Pyruvate dehydrogenase E2 deficiency, 245348 (3)"	245348	16049940
ENSG00000150787	PTS	612719	"Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)"	261640	8178819
ENSG00000150961	SEC24D	607186	"Cole-Carpenter syndrome 2, 616294 (3)"	616294	25683121
ENSG00000150995	ITPR1	147265	"Gillespie syndrome, 206700 (3)"	206700	27108797
ENSG00000150995	"ITPR1, SCA15, SCA16, SCA29"	147265	"Spinocerebellar ataxia 15, 606658 (3)"	606658	17590087
ENSG00000150995	"ITPR1, SCA15, SCA16, SCA29"	147265	"Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)"	117360	22986007
ENSG00000151062	"CACNA2D4, RCD4"	608171	"Retinal cone dystrophy 4, 610478 (3)"	610478	17033974
ENSG00000151067	CACNA1C	114205	"Brugada syndrome 3, 611875 (3)"	611875	15655131
ENSG00000151067	"CACNA1C, CACNL1A1, CCHL1A1, TS"	114205	"Timothy syndrome, 601005 (3)"	601005	15454078
ENSG00000151090	"THRB, ERBA2, THR1, PRTH"	190160	"Thyroid hormone resistance, 188570 (3)"	188570	2510172
ENSG00000151090	"THRB, ERBA2, THR1, PRTH"	190160	"Thyroid hormone resistance, autosomal recessive, 274300 (3)"	274300	1991834
ENSG00000151090	"THRB, ERBA2, THR1, PRTH"	190160	"Thyroid hormone resistance, selective pituitary, 145650 (3)"	145650	8381821
ENSG00000151092	NGLY1	610661	"Congenital disorder of deglycosylation, 615273 (3)"	615273	22581936
ENSG00000151148	"UBE3B, BPIDS, KOS"	608047	"Kaufman oculocerebrofacial syndrome, 244450 (3)"	244450	23200864
ENSG00000151150	ANK3	600465	"?Mental retardation, autosomal recessive, 37, 615493 (3)"	615493	23390136
ENSG00000151224	MAT1A	610550	"Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)"	250850	7560086
ENSG00000151224	"MAT1A, MATA1, SAMS1"	610550	"Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)"	250850	7560086
ENSG00000151348	EXT2	608210	"?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3)"	616682	26246518
ENSG00000151348	EXT2	608210	"Exostoses, multiple, type 2, 133701 (3)"	133701	8782816
ENSG00000151413	"NUBPL, IND1"	613621	"Mitochondrial complex I deficiency, 252010 (3)"	252010	20818383
ENSG00000151445	VIPAS39	613401	"Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)"	613404	20190753
ENSG00000151474	FRMD4A	616305	"?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)"	616819	25388005
ENSG00000151490	"PTPRO, GLEPP1, NPHS6"	600579	"Nephrotic syndrome, type 6, 614196 (3)"	614196	21722858
ENSG00000151491	EPS8	600206	"?Deafness, autosomal recessive 102, 615974 (3)"	615974	24741995
ENSG00000151498	ACAD8	604773	"Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)"	611283	12359132
ENSG00000151552	QDPR	612676	"Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)"	261630	2116088
ENSG00000151611	MMAA	607481	"Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)"	251100	20556797
ENSG00000151617	"EDNRA, MFDA"	131243	"Mandibulofacial dysostosis with alopecia, 616367 (3)"	616367	25772936
ENSG00000151623	NR3C2	600983	"Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)"	605115	10884226
ENSG00000151623	"NR3C2, MLR, MCR"	600983	"Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)"	177735	9662404
ENSG00000151694	ADAM17	603639	"?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)"	614328	22010916
ENSG00000151704	KCNJ1	600359	"Bartter syndrome, type 2, 241200 (3)"	241200	9326936
ENSG00000151729	"SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2"	103220	"Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3)"	617184	27693233
ENSG00000151729	"SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2"	103220	"Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3)"	615418	16155110
ENSG00000151729	"SLC25A4, ANT1, T1, PEO3, PEO2, MTDPS12A, PEOA2"	103220	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3)"	609283	10926541
ENSG00000151779	NBAS	608025	"Infantile liver failure syndrome 2, 616483 (3)"	616483	26073778
ENSG00000151779	"NBAS, NAG, SOPH, ILFS2"	608025	"Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)"	614800	20577004
ENSG00000151806	GUF1	617064	"?Epileptic encephalopathy, early infantile, 40, 617065 (3)"	617065	26486472
ENSG00000151835	"SACS, ARSACS"	604490	"Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)"	270550	10655055
ENSG00000151849	CENPJ	609279	"?Seckel syndrome 4, 613676 (3)"	613676	20522431
ENSG00000151849	"CENPJ, CPAP, MCPH6, SCKL4"	609279	"Microcephaly 6, primary, autosomal recessive, 608393 (3)"	608393	15793586
ENSG00000151914	DST	113810	"?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)"	614653	22522446
ENSG00000151914	DST	113810	"Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)"	615425	20164846
ENSG00000151929	BAG3	603883	"Cardiomyopathy, dilated, 1HH, 613881 (3)"	613881	"21898660, 21353195"
ENSG00000151929	"BAG3, MFM6"	603883	"Myopathy, myofibrillar, 6, 612954 (3)"	612954	19085932
ENSG00000152104	PTPN14	603155	"Choanal atresia and lymphedema, 613611 (3)"	613611	20826270
ENSG00000152137	HSPB8	608014	"Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)"	608673	15565283
ENSG00000152137	"HSPB8, H11, E2IG1, DHMN2, CMT2L, HMN2A"	608014	"Neuropathy, distal hereditary motor, type IIA, 158590 (3)"	158590	15122253
ENSG00000152208	"GRID2, SCAR18"	602368	"Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)"	616204	23611888
ENSG00000152217	"SETBP1, KIAA0437, SEB, MRD29"	611060	"Mental retardation, autosomal dominant 29, 616078 (3)"	616078	25217958
ENSG00000152217	"SETBP1, KIAA0437, SEB, MRD29"	611060	"Schinzel-Giedion midface retraction syndrome, 269150 (3)"	269150	20436468
ENSG00000152223	"EPG5, KIAA1632, HEEW1, VICIS"	615068	"Vici syndrome, 242840 (3)"	242840	23222957
ENSG00000152234	ATP5A1	164360	"?Combined oxidative phosphorylation deficiency 22, 616045 (3)"	616045	23596069
ENSG00000152234	ATP5A1	164360	"?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)"	615228	23599390
ENSG00000152422	"XRCC4, SSMED"	194363	"Short stature, microcephaly, and endocrine dysfunction, 616541 (3)"	616541	24389050
ENSG00000152457	"DCLRE1C, ARTEMIS, SCIDA"	605988	"Omenn syndrome, 603554 (3)"	603554	15731174
ENSG00000152457	"DCLRE1C, ARTEMIS, SCIDA"	605988	"Severe combined immunodeficiency, Athabascan type, 602450 (3)"	602450	12055248
ENSG00000152492	CCDC50	611051	"?Deafness, autosomal dominant 44, 607453 (3)"	607453	17503326
ENSG00000152556	PFKM	610681	"Glycogen storage disease VII, 232800 (3)"	232800	2140573
ENSG00000152591	DSPP	125485	"Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)"	605594	11175790
ENSG00000152591	DSPP	125485	"Dentin dysplasia, type II, 125420 (3)"	125420	12354781
ENSG00000152591	DSPP	125485	"Dentinogenesis imperfecta, Shields type II, 125490 (3)"	125490	7573043
ENSG00000152591	DSPP	125485	"Dentinogenesis imperfecta, Shields type III, 125500 (3)"	125500	9541230
ENSG00000152592	DMP1	600980	"Hypophosphatemic rickets, AR, 241520 (3)"	241520	17033625
ENSG00000152620	NADK2	615787	"?2,4-dienoyl-CoA reductase deficiency, 616034 (3)"	616034	24847004
ENSG00000152642	GPD1L	611778	"Brugada syndrome 2, 611777 (3)"	611777	17967977
ENSG00000152661	GJA1	121014	"Atrioventricular septal defect 3, 600309 (3)"	600309	11470490
ENSG00000152661	GJA1	121014	"Craniometaphyseal dysplasia, autosomal recessive, 218400 (3)"	218400	23951358
ENSG00000152661	GJA1	121014	"Hypoplastic left heart syndrome 1, 241550 (3)"	241550	11470490
ENSG00000152661	"GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP"	121014	"Oculodentodigital dysplasia, 164200 (3)"	164200	12457340
ENSG00000152661	"GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP"	121014	"Oculodentodigital dysplasia, autosomal recessive, 257850 (3)"	257850	16816024
ENSG00000152661	"GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP"	121014	"Palmoplantar keratoderma with congenital alopecia, 104100 (3)"	104100	25168385
ENSG00000152661	"GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP"	121014	"Syndactyly, type III, 186100 (3)"	186100	12457340
ENSG00000152669	CCNO	607752	"Ciliary dyskinesia, primary, 29, 615872 (3)"	615872	24747639
ENSG00000152700	SAR1B	607690	"Chylomicron retention disease, 246700 (3)"	246700	12692552
ENSG00000152779	SLC16A12	611910	"Cataract 47, juvenile, with microcornea, 612018 (3)"	612018	18304496
ENSG00000152784	PRDM8	616639	"?Epilepsy, progressive myoclonic, 10, 616640 (3)"	616640	22961547
ENSG00000152795	"HNRNPDL, HNRPDL, JKTBP, LGMD1G"	607137	"Muscular dystrophy, limb-girdle, type 1G, 609115 (3)"	609115	24647604
ENSG00000152822	"GRM1, MGLUR1, GRM1A, SCAR13"	604473	"Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)"	614831	22901947
ENSG00000152939	MARVELD2	610572	"Deafness, autosomal recessive 49, 610153 (3)"	610153	17186462
ENSG00000152952	PLOD2	601865	"Bruck syndrome 2, 609220 (3)"	609220	12881513
ENSG00000152977	ZIC1	600470	"Craniosynostosis 6, 616602 (3)"	616602	26340333
ENSG00000153113	"CAST, PLACK"	114090	"Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)"	616295	25683118
ENSG00000153187	HNRNPU	602869	"Epileptic encephalopathy, early infantile, 54, 617391 (3)"	617391	23708187
ENSG00000153208	"MERTK, RP38"	604705	"Retinitis pigmentosa 38, 613862 (3)"	613862	11062461
ENSG00000153283	CD96	606037	"C syndrome, 211750 (3)"	211750	17847009
ENSG00000153563	CD8A	186910	"CD8 deficiency, familial, 608957 (3)"	608957	11435463
ENSG00000153574	RPIA	180430	"?Ribose 5-phosphate isomerase deficiency, 608611 (3)"	608611	14988808
ENSG00000153933	"DGKE, NPHS7, AHUS7"	601440	"Nephrotic syndrome, type 7, 615008 (3)"	615008	23274426
ENSG00000153989	NUS1	610463	"?Congenital disorder of glycosylation, type 1aa, 617082 (3)"	617082	25066056
ENSG00000154099	DNAAF1	613190	"Ciliary dyskinesia, primary, 13, 613193 (3)"	613193	19944400
ENSG00000154118	JPH3	605268	"Huntington disease-like 2, 606438 (3)"	606438	15468075
ENSG00000154122	ANKH	605145	"Chondrocalcinosis 2, 118600 (3)"	118600	12297987
ENSG00000154122	ANKH	605145	"Craniometaphyseal dysplasia, 123000 (3)"	123000	"11326272, 11326338"
ENSG00000154124	OTULIN	615712	"Autoinflammation, panniculitis, and dermatosis syndrome, 617099 (3)"	617099	27523608
ENSG00000154134	ROBO3	608630	"Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)"	607313	15105459
ENSG00000154153	"FAM134B, HSAN2B"	613114	"Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)"	613115	19838196
ENSG00000154227	CERS3	615276	"Ichthyosis, congenital, autosomal recessive 9, 615023 (3)"	615023	21093221
ENSG00000154277	"UCHL1, PARK5, SPG79, NDGOA"	191342	"Spastic paraplegia 79, autosomal recessive, 615491 (3)"	615491	23359680
ENSG00000154310	"TNIK, KIAA0551, MRT54"	610005	"Mental retardation, autosomal recessive 54, 617028 (3)"	617028	27106596
ENSG00000154485	MMP21	608416	"Heterotaxy, visceral, 7, autosomal, 616749 (3)"	616749	26429889
ENSG00000154646	TMPRSS15	606635	"Enterokinase deficiency, 226200 (3)"	226200	11719902
ENSG00000154743	"TSEN2, SEN2, PCH2B"	608753	"Pontocerebellar hypoplasia type 2B, 612389 (3)"	612389	18711368
ENSG00000154764	WNT7A	601570	"Fuhrmann syndrome, 228930 (3)"	228930	16826533
ENSG00000154764	WNT7A	601570	"Ulna and fibula, absence of, with severe limb deficiency, 276820 (3)"	276820	16826533
ENSG00000154767	"XPC, XPCC"	613208	"Xeroderma pigmentosum, group C, 278720 (3)"	278720	8298653
ENSG00000154781	CCDC174	616735	"Hypotonia, infantile, with psychomotor retardation, 616816 (3)"	616816	26358778
ENSG00000154803	FLCN	607273	"Birt-Hogg-Dube syndrome, 135150 (3)"	135150	12204536
ENSG00000154803	"FLCN, BHD"	607273	"Pneumothorax, primary spontaneous, 173600 (3)"	173600	15657874
ENSG00000154856	APCDD1	607479	"Hypotrichosis 1, 605389 (3)"	605389	20393562
ENSG00000154864	PIEZO2	613629	"?Marden-Walker syndrome, 248700 (3)"	248700	24726473
ENSG00000154864	PIEZO2	613629	"Arthrogryposis, distal, type 3, 114300 (3)"	114300	24726473
ENSG00000154864	PIEZO2	613629	"Arthrogryposis, distal, type 5, 108145 (3)"	108145	23487782
ENSG00000154864	PIEZO2	613629	"Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)"	617146	27653382
ENSG00000155016	"CYP2U1, SPG56"	610670	"Spastic paraplegia 56, autosomal recessive, 615030 (3)"	615030	23176821
ENSG00000155256	"ZFYVE27, SPG33"	610243	"Spastic paraplegia 33, autosomal dominant, 610244 (3)"	610244	16826525
ENSG00000155380	SLC16A1	600682	"Erythrocyte lactate transporter defect, 245340 (3)"	245340	10590411
ENSG00000155380	SLC16A1	600682	"Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)"	610021	12502513
ENSG00000155380	"SLC16A1, MCT1, HHF7, MCT1D"	600682	"Monocarboxylate transporter 1 deficiency, 616095 (3)"	616095	25390740
ENSG00000155465	"SLC7A7, LPI"	603593	"Lysinuric protein intolerance, 222700 (3)"	222700	10080182
ENSG00000155561	NUP205	614352	"?Nephrotic syndrome, type 13, 616893 (3)"	616893	26878725
ENSG00000155657	TTN	188840	"Cardiomyopathy, dilated, 1G, 604145 (3)"	604145	11788824
ENSG00000155657	TTN	188840	"Cardiomyopathy, familial hypertrophic, 9, 613765 (3)"	613765	10462489
ENSG00000155657	"TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC"	188840	"Muscular dystrophy, limb-girdle, type 2J, 608807 (3)"	608807	12145747
ENSG00000155657	"TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC"	188840	"Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)"	611705	17444505
ENSG00000155657	"TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC"	188840	"Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)"	603689	10053013
ENSG00000155657	"TTN, CMD1G, TMD, LGMD2J, MPRM, HMERF, EOMFC"	188840	"Tibial muscular dystrophy, tardive, 600334 (3)"	600334	12145747
ENSG00000155719	OTOA	607038	"Deafness, autosomal recessive 22, 607039 (3)"	607039	11972037
ENSG00000155755	TMEM237	614423	"Joubert syndrome 14, 614424 (3)"	614424	22152675
ENSG00000155816	"FMN2, MRT47"	606373	"Mental retardation, autosomal recessive 47, 616193 (3)"	616193	25480035
ENSG00000155850	SLC26A2	606718	"Achondrogenesis Ib, 600972 (3)"	600972	8528239
ENSG00000155850	SLC26A2	606718	"Atelosteogenesis II, 256050 (3)"	256050	8571951
ENSG00000155850	SLC26A2	606718	"De la Chapelle dysplasia, 256050 (3)"	256050	8571951
ENSG00000155850	SLC26A2	606718	"Diastrophic dysplasia, 222600 (3)"	222600	1345170
ENSG00000155850	SLC26A2	606718	"Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3)"	222600	1345170
ENSG00000155850	SLC26A2	606718	"Epiphyseal dysplasia, multiple, 4, 226900 (3)"	226900	10465113
ENSG00000155906	RMND1	614917	"Combined oxidative phosphorylation deficiency 11, 614922 (3)"	614922	23022099
ENSG00000155961	RAB39B	300774	"?Waisman syndrome, 311510 (3)"	311510	25434005
ENSG00000155961	"RAB39B, MRX72, WSMN"	300774	"Mental retardation, X-linked 72, 300271 (3)"	300271	20159109
ENSG00000155962	CLIC2	300138	"?Mental retardation, X-linked, syndromic 32, 300886 (3)"	300886	22814392
ENSG00000155966	"AFF2, FMR2, FRAXE, MRX2"	300806	"Mental retardation, X-linked, FRAXE type, 309548 (3)"	309548	1301146
ENSG00000155975	"VPS37A, HCRP1, SPG53"	609927	"Spastic paraplegia 53, autosomal recessive, 614898 (3)"	614898	22717650
ENSG00000155980	"KIF5A, NKHC, SPG10, NEIMY"	602821	"Myoclonus, intractable, neonatal, 617235 (3)"	617235	27463701
ENSG00000155980	"KIF5A, NKHC, SPG10, NEIMY"	602821	"Spastic paraplegia 10, autosomal dominant, 604187 (3)"	604187	12355402
ENSG00000156110	ADK	102750	"Hypermethioninemia due to adenosine kinase deficiency, 614300 (3)"	614300	21963049
ENSG00000156113	KCNMA1	600150	"Generalized epilepsy and paroxysmal dyskinesia, 609446 (3)"	609446	15937479
ENSG00000156150	ALX3	606014	"Frontonasal dysplasia 1, 136760 (3)"	136760	19409524
ENSG00000156170	"NDUFAF6, C8orf38"	612392	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	
ENSG00000156171	DRAM2	613360	"Cone-rod dystrophy 21, 616502 (3)"	616502	25983245
ENSG00000156172	C8orf37	614477	"Bardet-Biedl syndrome 21, 617406 (3)"	617406	"27008867, 27008867"
ENSG00000156172	C8orf37	614477	"Cone-rod dystrophy 16, 614500 (3)"	614500	22177090
ENSG00000156172	"C8orf37, CORD16, RP64, BBS21"	614477	"Retinitis pigmentosa 64, 614500 (3)"	614500	22177090
ENSG00000156298	"TSPAN7, TM4SF2, MXS1, A15, MRX58"	300096	"Mental retardation, X-linked 58, 300210 (3)"	300210	12070254
ENSG00000156313	RPGR	312610	"Cone-rod dystrophy, X-linked, 1, 304020 (3)"	304020	11857109
ENSG00000156313	"RPGR, RP3, CRD, RP15, COD1, CORDX1"	312610	"Macular degeneration, X-linked atrophic, 300834 (3)"	300834	12160730
ENSG00000156313	"RPGR, RP3, CRD, RP15, COD1, CORDX1"	312610	"Retinitis pigmentosa 3, 300029 (3)"	300029	8673101
ENSG00000156313	"RPGR, RP3, CRD, RP15, COD1, CORDX1"	312610	"Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3)"	300455	10094550
ENSG00000156413	FUT6	136836	"Fucosyltransferase 6 deficiency, 613852 (3)"	613852	8175676
ENSG00000156466	"GDF6, MCOP4, KFS1, MCOPCB6, LCA17"	601147	"Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)"	118100	18425797
ENSG00000156466	"GDF6, MCOP4, KFS1, MCOPCB6, LCA17"	601147	"Leber congenital amaurosis 17, 615360 (3)"	615360	23307924
ENSG00000156466	"GDF6, MCOP4, KFS1, MCOPCB6, LCA17"	601147	"Microphthalmia with coloboma 6, digenic, 613703 (3)"	613703	19864492
ENSG00000156466	"GDF6, MCOP4, KFS1, MCOPCB6, LCA17"	601147	"Microphthalmia, isolated 4, 613094 (3)"	613094	19129173
ENSG00000156467	"UQCRB, UQBP, QPC, MC3DN3"	191330	"Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)"	615158	12709789
ENSG00000156471	"PTDSS1, PSS1, KIAA0024, LMHD"	612792	"Lenz-Majewski hyperostotic dwarfism, 151050 (3)"	151050	24241535
ENSG00000156475	PPP2R2B	604325	"Spinocerebellar ataxia 12, 604326 (3)"	604326	10581021
ENSG00000156515	HK1	142600	"Hemolytic anemia due to hexokinase deficiency, 235700 (3)"	235700	7655856
ENSG00000156515	"HK1, HKD, HMSNR"	142600	"Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)"	605285	19536174
ENSG00000156531	PHF6	300414	"Borjeson-Forssman-Lehmann syndrome, 301900 (3)"	301900	12415272
ENSG00000156574	NODAL	601265	"Heterotaxy, visceral, 5, 270100 (3)"	270100	9354794
ENSG00000156650	KAT6B	605880	"Genitopatellar syndrome, 606170 (3)"	606170	22265014
ENSG00000156650	"KAT6B, MYST4, MORF, GTPTS"	605880	"SBBYSS syndrome, 603736 (3)"	603736	22077973
ENSG00000156709	AIFM1	300169	"Combined oxidative phosphorylation deficiency 6, 300816 (3)"	300816	20362274
ENSG00000156709	AIFM1	300169	"Cowchock syndrome, 310490 (3)"	310490	23217327
ENSG00000156709	AIFM1	300169	"Deafness, X-linked 5, 300614 (3)"	300614	25986071
ENSG00000156738	MS4A1	112210	"Immunodeficiency, common variable, 5, 613495 (3)"	613495	20038800
ENSG00000156831	"NSMCE2, NSE2, MMS21"	617246	"Seckel syndrome 10, 617253 (3)"	617253	25105364
ENSG00000156873	PHKG2	172471	"Glycogen storage disease IXc, 613027 (3)"	613027	8896567
ENSG00000156876	SASS6	609321	"?Microcephaly 14, primary, autosomal recessive, 616402 (3)"	616402	24951542
ENSG00000156925	ZIC3	300265	"Congenital heart defects, nonsyndromic, 1, X-linked, 306955 (3)"	306955	9354794
ENSG00000156925	ZIC3	300265	"Heterotaxy, visceral, 1, X-linked 306955 (3)"	306955	9354794
ENSG00000156925	"ZIC3, HTX1, HTX, VACTERLX"	300265	"VACTERL association, X-linked, 314390 (3)"	314390	20452998
ENSG00000156970	BUB1B	602860	"[Premature chromatid separation trait], 176430 (3)"	176430	15475955
ENSG00000156970	"BUB1B, BUBR1, MVA1"	602860	"Mosaic variegated aneuploidy syndrome 1, 257300 (3)"	257300	15475955
ENSG00000156973	PDE6D	602676	"?Joubert syndrome 22, 615665 (3)"	615665	24166846
ENSG00000156983	BRPF1	602410	"Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)"	617333	"27939639, 27939640"
ENSG00000157103	"SLC6A1, GABATR, MAE"	137165	"Myoclonic-atonic epilepsy, 616421 (3)"	616421	25865495
ENSG00000157119	"KLHL40, SYRP, KBTBD5, NEM8"	615340	"Nemaline myopathy 8, autosomal recessive, 615348 (3)"	615348	23746549
ENSG00000157131	C8A	120950	"C8 deficiency, type I, 613790 (3)"	613790	9759902
ENSG00000157184	CPT2	600650	"CPT II deficiency, infantile, 600649 (3)"	600649	1528846
ENSG00000157184	CPT2	600650	"CPT II deficiency, lethal neonatal, 608836 (3)"	608836	11477613
ENSG00000157184	CPT2	600650	"CPT II deficiency, myopathic, stress-induced, 255110 (3)"	255110	8358442
ENSG00000157227	MMP14	600754	"?Winchester syndrome, 277950 (3)"	277950	22922033
ENSG00000157259	GATAD1	614518	"?Cardiomyopathy, dilated, 2B, 614672 (3)"	614672	21965549
ENSG00000157388	"CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA"	114206	"Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3)"	615474	23913001
ENSG00000157388	"CACNA1D, CACNL1A2, CCHL1A2, SANDD, PASNA"	114206	"Sinoatrial node dysfunction and deafness, 614896 (3)"	614896	21131953
ENSG00000157399	ARSE	300180	"Chondrodysplasia punctata, X-linked recessive, 302950 (3)"	302950	7720070
ENSG00000157404	KIT	164920	"Germ cell tumors, 273300 (3)"	273300	10362788
ENSG00000157404	"KIT, PBT"	164920	"Mast cell disease, 154800 (3)"	154800	10354021
ENSG00000157404	"KIT, PBT"	164920	"Piebaldism, 172800 (3)"	172800	1717985
ENSG00000157423	HYDIN	610812	"Ciliary dyskinesia, primary, 5, 608647 (3)"	608647	23022101
ENSG00000157483	MYO1E	601479	"Glomerulosclerosis, focal segmental, 6, 614131 (3)"	614131	21756023
ENSG00000157540	"DYRK1A, MNBH, MNB, MRD7"	600855	"Mental retardation, autosomal dominant 7, 614104 (3)"	614104	21294719
ENSG00000157542	"KCNJ6, GIRK2, KCNJ7, KPLBS"	600877	"Keppen-Lubinsky syndrome, 614098 (3)"	614098	25620207
ENSG00000157764	BRAF	164757	"Cardiofaciocutaneous syndrome, 115150 (3)"	115150	16474404
ENSG00000157764	"BRAF, NS7"	164757	"LEOPARD syndrome 3, 613707 (3)"	613707	19206169
ENSG00000157764	"BRAF, NS7"	164757	"Noonan syndrome 7, 613706 (3)"	613706	19206169
ENSG00000157765	SLC34A2	604217	"Pulmonary alveolar microlithiasis, 265100 (3)"	265100	16960801
ENSG00000157766	"ACAN, AGC1, CSPG1, MSK16, SEDK"	155760	"Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3)"	165800	20137779
ENSG00000157766	"ACAN, AGC1, CSPG1, MSK16, SEDK"	155760	"Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)"	612813	19110214
ENSG00000157766	"ACAN, AGC1, CSPG1, MSK16, SEDK"	155760	"Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)"	608361	16080123
ENSG00000157796	WDR19	608151	"?Cranioectodermal dysplasia 4, 614378 (3)"	614378	22019273
ENSG00000157796	WDR19	608151	"?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)"	614376	22019273
ENSG00000157796	"WDR19, SRTD5, ATD5, NPHP13, CED4"	608151	"Nephronophthisis 13, 614377 (3)"	614377	22019273
ENSG00000157796	"WDR19, SRTD5, ATD5, NPHP13, CED4"	608151	"Senior-Loken syndrome 8, 616307 (3)"	616307	23559409
ENSG00000157856	DRC1	615288	"Ciliary dyskinesia, primary, 21, 615294 (3)"	615294	23354437
ENSG00000157869	RAB28	612994	"Cone-rod dystrophy 18, 615374 (3)"	615374	23746546
ENSG00000157911	"PEX10, NALD, PBD6A, PBD6B"	602859	"Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)"	614870	9683594
ENSG00000157911	"PEX10, NALD, PBD6A, PBD6B"	602859	"Peroxisome biogenesis disorder 6B, 614871 (3)"	614871	9683594
ENSG00000157933	"SKI, SGS"	164780	"Shprintzen-Goldberg syndrome, 182212 (3)"	182212	23023332
ENSG00000157978	LDLRAP1	605747	"Hypercholesterolemia, familial, autosomal recessive, 603813 (3)"	603813	9409298
ENSG00000158014	"SLC30A2, ZNT2, TNZD"	609617	"Zinc deficiency, transient neonatal, 608118 (3)"	608118	17065149
ENSG00000158055	"GRHL3, SOM, TFCP2L4, VWS2"	608317	"Van der Woude syndrome 2, 606713 (3)"	606713	24360809
ENSG00000158104	HPD	609695	"Hawkinsinuria, 140350 (3)"	140350	11073718
ENSG00000158104	HPD	609695	"Tyrosinemia, type III, 276710 (3)"	276710	10942115
ENSG00000158125	"XDH, XAN1"	607633	"Xanthinuria, type I, 278300 (3)"	278300	9153281
ENSG00000158158	CNNM4	607805	"Jalili syndrome, 217080 (3)"	217080	19200527
ENSG00000158169	FANCC	613899	"Fanconi anemia, complementation group C, 227645 (3)"	227645	1574115
ENSG00000158290	"CUL4B, MRXSC, MRXHF2, SFM2, MRXS15"	300304	"Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)"	300354	17236139
ENSG00000158321	"KIAA0442, MRD26"	607270	"Mental retardation, autosomal dominant 26, 615834 (3)"	615834	23332918
ENSG00000158352	SHROOM4	300579	"?Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)"	300434	16249884
ENSG00000158445	KCNB1	600397	"Epileptic encephalopathy, early infantile, 26, 616056 (3)"	616056	25164438
ENSG00000158517	NCF1	608512	"Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)"	233700	2770793
ENSG00000158526	TSR2	300945	"?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 (3)"	300946	24942156
ENSG00000158578	ALAS2	301300	"Anemia, sideroblastic, 1, 300751 (3)"	300751	1570328
ENSG00000158578	"ALAS2, ANH1, ASB, XLEPP, XLSA, ANH1, SIDBA1"	301300	"Protoporphyria, erythropoietic, X-linked, 300752 (3)"	300752	18760763
ENSG00000158615	"PPP1R15B, CREP, MSSGM2"	613257	"Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)"	616817	26159176
ENSG00000158683	PKD1L1	609721	"Heterotaxy, visceral, 8, autosomal, 617205 (3)"	617205	27616478
ENSG00000158813	EDA	300451	"Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)"	305100	8434608
ENSG00000158813	"EDA, ED1, ECTD1, EDA, HED1, STHAGX1"	300451	"Tooth agenesis, selective, X-linked 1, 313500 (3)"	313500	16583127
ENSG00000158815	FGF17	603725	"Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3)"	615270	23643382
ENSG00000158828	"PINK1, PARK6"	608309	"Parkinson disease 6, early onset, 605909 (3)"	605909	15087508
ENSG00000158864	NDUFS2	602985	"Mitochondrial complex I deficiency, 252010 (3)"	252010	11220739
ENSG00000158887	MPZ	159440	"Charcot-Marie-Tooth disease, dominant intermediate D, 607791 (3)"	607791	10406984
ENSG00000158887	MPZ	159440	"Charcot-Marie-Tooth disease, type 1B, 118200 (3)"	118200	7693129
ENSG00000158887	MPZ	159440	"Charcot-Marie-Tooth disease, type 2I, 607677 (3)"	607677	9595994
ENSG00000158887	MPZ	159440	"Charcot-Marie-Tooth disease, type 2J, 607736 (3)"	607736	10071056
ENSG00000158887	"MPZ, CMT1B, CMTDID, CHM, DSS"	159440	"Neuropathy, congenital hypomyelinating, 605253 (3)"	605253	8816708
ENSG00000158887	"MPZ, CMT1B, CMTDID, CHM, DSS"	159440	"Roussy-Levy syndrome, 180800 (3)"	180800	10553995
ENSG00000159023	EPB41	130500	"Elliptocytosis-1, 611804 (3)"	611804	3755799
ENSG00000159063	ALG8	608103	"Congenital disorder of glycosylation, type Ih, 608104 (3)"	608104	12480927
ENSG00000159079	C21orf59	615494	"Ciliary dyskinesia, primary, 26, 615500 (3)"	615500	24094744
ENSG00000159082	SYNJ1	604297	"Epileptic encephalopathy, early infantile, 53, 617389 (3)"	617389	27435091
ENSG00000159082	"SYNJ1, PARK20, EIEE53"	604297	"Parkinson disease 20, early-onset, 615530 (3)"	615530	"23804563, 23804577"
ENSG00000159110	IFNAR2	602376	"?Immunodeficiency 45, 616669 (3)"	616669	26424569
ENSG00000159128	IFNGR2	147569	"Immunodeficiency 28, mycobacteriosis, 614889 (3)"	614889	15924140
ENSG00000159140	"SON, TOKIMS"	182465	"ZTTK syndrome, 617140 (3)"	617140	25590979
ENSG00000159197	KCNE2	603796	"Atrial fibrillation, familial, 4, 611493 (3)"	611493	15368194
ENSG00000159197	"KCNE2, MIRP1, LQT6, ATFB4"	603796	"Long QT syndrome 6, 613693 (3)"	613693	10219239
ENSG00000159216	"RUNX1, CBFA2, AML1"	151385	"Platelet disorder, familial, with associated myeloid malignancy, 601399 (3)"	601399	10508512
ENSG00000159251	ACTC1	102540	"Cardiomyopathy, dilated, 1R, 613424 (3)"	613424	9563954
ENSG00000159251	ACTC1	102540	"Atrial septal defect 5, 612794 (3)"	612794	17947298
ENSG00000159251	"ACTC1, CMD1R, CMH11, ASD5, LVNC4"	102540	"Left ventricular noncompaction 4, 613424 (3)"	613424	17611253
ENSG00000159261	CLDN14	605608	"Deafness, autosomal recessive 29, 614035 (3)"	614035	11163249
ENSG00000159267	HLCS	609018	"Holocarboxylase synthetase deficiency, 253270 (3)"	253270	7842009
ENSG00000159363	"ATP13A2, PARK9, KRPPD, SPG78"	610513	"Kufor-Rakeb syndrome, 606693 (3)"	606693	16964263
ENSG00000159363	"ATP13A2, PARK9, KRPPD, SPG78"	610513	"Spastic paraplegia 78, autosomal recessive, 617225 (3)"	617225	27217339
ENSG00000159403	C1R	613785	"Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)"	130080	27745832
ENSG00000159423	ALDH4A1	606811	"Hyperprolinemia, type II, 239510 (3)"	239510	9700195
ENSG00000159450	TCHH	190370	"?Uncombable hair syndrome 3, 617252 (3)"	617252	27866708
ENSG00000159459	UBR1	605981	"Johanson-Blizzard syndrome, 243800 (3)"	243800	16311597
ENSG00000159579	"RSPRY1, KIAA1972, SEMDFA"	616585	"Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type, 616723 (3)"	616723	26365341
ENSG00000159640	"ACE, DCP1, ACE1, MVCD3, ICH"	106180	"Renal tubular dysgenesis, 267430 (3)"	267430	9350819
ENSG00000159650	UROC1	613012	"?Urocanase deficiency, 276880 (3)"	276880	19304569
ENSG00000159899	NPR2	108961	"Acromesomelic dysplasia, Maroteaux type, 602875 (3)"	602875	15146390
ENSG00000159899	NPR2	108961	"Epiphyseal chondrodysplasia, Miura type, 615923 (3)"	615923	22870295
ENSG00000159899	"NPR2, ANPRB, AMDM, ECDM, SNSK"	108961	"Short stature with nonspecific skeletal abnormalities, 616255 (3)"	616255	16384845
ENSG00000159921	"GNE, GLCNE, IBM2, DMRV, NM"	603824	"Nonaka myopathy, 605820 (3)"	605820	11528398
ENSG00000159921	"GNE, GLCNE, IBM2, DMRV, NM"	603824	"Sialuria, 269921 (3)"	269921	10330343
ENSG00000159958	TNFRSF13C	606269	"Immunodeficiency, common variable, 4, 613494 (3)"	613494	19666484
ENSG00000160111	CPAMD8	608841	"Anterior segement dysgenesis 8, 617319 (3)"	617319	27839872
ENSG00000160131	"VMA21, XMEA"	300913	"Myopathy, X-linked, with excessive autophagy, 310440 (3)"	310440	23315026
ENSG00000160183	TMPRSS3	605511	"Deafness, autosomal recessive 8/10, 601072 (3)"	601072	11137999
ENSG00000160188	RSPH1	609314	"Ciliary dyskinesia, primary, 24, 615481 (3)"	615481	23993197
ENSG00000160200	CBS	613381	"Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)"	236200	6711564
ENSG00000160200	CBS	613381	"Thrombosis, hyperhomocysteinemic, 236200 (3)"	236200	6711564
ENSG00000160202	CRYAA	123580	"Cataract 9, multiple types, 604219 (3)"	604219	9467006
ENSG00000160211	G6PD	305900	"Hemolytic anemia due to G6PD deficiency, 300908 (3)"	300908	1611091
ENSG00000160213	CSTB	601145	"Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)"	254800	8596935
ENSG00000160224	AIRE	607358	"Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)"	240300	9398839
ENSG00000160255	"ITGB2, CD18, LCAMB, LAD"	600065	"Leukocyte adhesion deficiency, 116920 (3)"	116920	2880869
ENSG00000160282	FTCD	606806	"Glutamate formiminotransferase deficiency, 229100 (3)"	229100	12815595
ENSG00000160285	LSS	600909	"Cataract 44, 616509 (3)"	616509	26200341
ENSG00000160299	"PCNT, PCNT2, KEN, SCKL4, MOPD2"	605925	"Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)"	210720	18174396
ENSG00000160323	"ADAMTS13, VWFCP, TTP"	604134	"Thrombotic thrombocytopenic purpura, familial, 274150 (3)"	274150	11586351
ENSG00000160602	NEK8	609799	"?Nephronophthisis 9, 613824 (3)"	613824	18199800
ENSG00000160602	NEK8	609799	"?Renal-hepatic-pancreatic dysplasia 2, 615415 (3)"	615415	23418306
ENSG00000160654	CD3G	186740	"Immunodeficiency 17, CD3 gamma deficient, 615607 (3)"	615607	1635567
ENSG00000160688	"FLAD1, FADS, LSMFLAD"	610595	"Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3)"	255100	25058219
ENSG00000160695	"VPS11, HLD12"	608549	"Leukodystrophy, hypomyelinating, 12, 616683 (3)"	616683	26307567
ENSG00000160710	ADAR	146920	"Aicardi-Goutieres syndrome 6, 615010 (3)"	615010	23001123
ENSG00000160710	ADAR	146920	"Dyschromatosis symmetrica hereditaria, 127400 (3)"	127400	12916015
ENSG00000160716	CHRNB2	118507	"Epilepsy, nocturnal frontal lobe, 3, 605375 (3)"	605375	11062464
ENSG00000160746	"ANO10, TMEM16K, SCAR10"	613726	"Spinocerebellar ataxia, autosomal recessive 10, 613728 (3)"	613728	21092923
ENSG00000160752	"FDPS, FPS, POROK9"	134629	"Porokeratosis 9, multiple types, 616631 (3)"	616631	26202976
ENSG00000160789	LMNA	150330	"Cardiomyopathy, dilated, 1A, 115200 (3)"	115200	10580070
ENSG00000160789	LMNA	150330	"Charcot-Marie-Tooth disease, type 2B1, 605588 (3)"	605588	11799477
ENSG00000160789	LMNA	150330	"Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)"	181350	10080180
ENSG00000160789	LMNA	150330	"Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)"	616516	10739764
ENSG00000160789	LMNA	150330	"Heart-hand syndrome, Slovenian type, 610140 (3)"	610140	18611980
ENSG00000160789	LMNA	150330	"Hutchinson-Gilford progeria, 176670 (3)"	176670	12714972
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Lipodystrophy, familial partial, type 2, 151660 (3)"	151660	10587585
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Malouf syndrome, 212112 (3)"	212112	12927431
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Mandibuloacral dysplasia, 248370 (3)"	248370	12075506
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Muscular dystrophy, congenital, 613205 (3)"	613205	15148145
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Muscular dystrophy, limb-girdle, type 1B, 159001 (3)"	159001	10814726
ENSG00000160789	"LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B"	150330	"Restrictive dermopathy, lethal, 275210 (3)"	275210	15317753
ENSG00000160796	NBEAL2	614169	"Gray platelet syndrome, 139090 (3)"	139090	"21765411, 21765412, 21765413"
ENSG00000160801	PTH1R	168468	"Chondrodysplasia, Blomstrand type, 215045 (3)"	215045	9649554
ENSG00000160801	PTH1R	168468	"Eiken syndrome, 600002 (3)"	600002	15525660
ENSG00000160801	PTH1R	168468	"Failure of tooth eruption, primary, 125350 (3)"	125350	19061984
ENSG00000160801	"PTHR1, PTHR, PFE"	168468	"Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)"	156400	7701349
ENSG00000160877	"NACC1, BTBD14B, NECFM"	610672	"Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3)"	617393	28132692
ENSG00000160882	CYP11B1	610613	"Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)"	202010	2022736
ENSG00000160882	CYP11B1	610613	"Aldosteronism, glucocorticoid-remediable, 103900 (3)"	103900	"1731223, 1472060"
ENSG00000160957	RECQL4	603780	"Baller-Gerold syndrome, 218600 (3)"	218600	15964893
ENSG00000160957	"RECQL4, RTS, RECQ4"	603780	"RAPADILINO syndrome, 266280 (3)"	266280	12952869
ENSG00000160957	"RECQL4, RTS, RECQ4"	603780	"Rothmund-Thomson syndrome, 268400 (3)"	268400	10319867
ENSG00000161011	SQSTM1	601530	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3)"	616437	22084127
ENSG00000161011	"SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV"	601530	"Myopathy, distal, with rimmed vacuoles, 617158 (3)"	617158	26208961
ENSG00000161011	"SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV"	601530	"Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3)"	617145	27545679
ENSG00000161011	"SQSTM1, P62, PDB3, FTDALS3, NADGP, DMRV"	601530	"Paget disease of bone 3, 167250 (3)"	167250	11992264
ENSG00000161202	"DVL3, DRS3"	601368	"Robinow syndrome, autosomal dominant 3, 616894 (3)"	616894	26924530
ENSG00000161217	"PCYT1A, CTPCT, PCYT1, SMDCRD"	123695	"Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)"	608940	24387990
ENSG00000161270	"NPHS1, NPHN"	602716	"Nephrotic syndrome, type 1, 256300 (3)"	256300	9660941
ENSG00000161395	PGAP3	611801	"Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)"	615716	24439110
ENSG00000161533	"ACOX1, ACOX, SCOX"	609751	"Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)"	264470	8040306
ENSG00000161594	"KLHL10, SPGF11"	608778	"Spermatogenic failure 11, 615081 (3)"	615081	17047026
ENSG00000161610	HCRT	602358	"?Narcolepsy 1, 161400 (3)"	161400	10973318
ENSG00000161653	NAGS	608300	"N-acetylglutamate synthase deficiency, 237310 (3)"	237310	12594532
ENSG00000161798	"AQP5, PPKB"	600442	"Palmoplantar keratoderma, Bothnian type, 600231 (3)"	600231	23830519
ENSG00000161904	LEMD2	616312	"Cataract 46, juvenile-onset, 212500 (3)"	212500	26788539
ENSG00000161970	RPL26	603704	"?Diamond-Blackfan anemia 11, 614900 (3)"	614900	22431104
ENSG00000162004	"CCDC78, C16orf25, CNM4"	614666	"Myopathy, centronuclear, 4, 614807 (3)"	614807	22818856
ENSG00000162065	TBC1D24	613577	"DOOR syndrome, 220500 (3)"	220500	24291220
ENSG00000162065	TBC1D24	613577	"Deafness , autosomal recessive 86, 614617 (3)"	614617	24387994
ENSG00000162065	TBC1D24	613577	"Deafness, autosomal dominant 65, 616044 (3)"	616044	"24729539, 24729547"
ENSG00000162065	TBC1D24	613577	"Epileptic encephalopathy, early infantile, 16, 615338 (3)"	615338	23343562
ENSG00000162065	"TBC1D24, KIAA1171, FIME, EIEE16, DOORS, DFNB86, DFNA65"	613577	"Myoclonic epilepsy, infantile, familial, 605021 (3)"	605021	20727515
ENSG00000162129	CLPB	616254	"3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)"	616271	25597510
ENSG00000162337	LRP5	603506	"Exudative vitreoretinopathy 4, 601813 (3)"	601813	15024691
ENSG00000162337	LRP5	603506	"Hyperostosis, endosteal, 144750 (3)"	144750	12579474
ENSG00000162337	"LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4"	603506	"Osteopetrosis, autosomal dominant 1, 607634 (3)"	607634	12579474
ENSG00000162337	"LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4"	603506	"Osteoporosis-pseudoglioma syndrome, 259770 (3)"	259770	11719191
ENSG00000162337	"LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4"	603506	"Osteosclerosis, 144750 (3)"	144750	12579474
ENSG00000162337	"LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4"	603506	"van Buchem disease, type 2, 607636 (3)"	607636	12579474
ENSG00000162399	BSND	606412	"Sensorineural deafness with mild renal dysfunction, 602522 (3)"	602522	11687798
ENSG00000162430	"SELENON, SEPN1, SELN, RSMD1, CFTD"	606210	"Muscular dystrophy, rigid spine, 1, 602771 (3)"	602771	11528383
ENSG00000162430	"SELENON, SEPN1, SELN, RSMD1, CFTD"	606210	"Myopathy, congenital, with fiber-type disproportion, 255310 (3)"	255310	16365872
ENSG00000162551	ALPL	171760	"Hypophosphatasia, adult, 146300 (3)"	146300	1409720
ENSG00000162551	ALPL	171760	"Hypophosphatasia, childhood, 241510 (3)"	241510	1409720
ENSG00000162551	ALPL	171760	"Hypophosphatasia, infantile, 241500 (3)"	241500	3174660
ENSG00000162551	"ALPL, HOPS, TNSALP"	171760	"Odontohypophosphatasia, 146300 (3)"	146300	1409720
ENSG00000162552	WNT4	603490	"?SERKAL syndrome, 611812 (3)"	611812	18179883
ENSG00000162552	"WNT4, SERKAL"	603490	"Mullerian aplasia and hyperandrogenism, 158330 (3)"	158330	15317892
ENSG00000162614	NEXN	613121	"Cardiomyopathy, dilated, 1CC, 613122 (3)"	613122	19881492
ENSG00000162669	"HFM1, MER3, POF9"	615684	"Premature ovarian failure 9, 615724 (3)"	615724	24597873
ENSG00000162676	GFI1	600871	"?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)"	607847	12778173
ENSG00000162676	GFI1	600871	"?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)"	613107	12778173
ENSG00000162688	AGL	610860	"Glycogen storage disease IIIa, 232400 (3)Glycogen storage disease IIIb, 232400 (3)"	232400	8755644
ENSG00000162711	NLRP3	606416	"CINCA syndrome, 607115 (3)"	607115	12032915
ENSG00000162711	NLRP3	606416	"Familial cold-induced inflammatory syndrome 1, 120100 (3)"	120100	11687797
ENSG00000162711	"NLRP3, CIAS1, FCU, FCAS1, NALP3, PYPAF1"	606416	"Muckle-Wells syndrome, 191900 (3)"	191900	11687797
ENSG00000162733	"DDR2, NTRKR3, TKT"	191311	"Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)"	271665	19110212
ENSG00000162735	"PEX19, PXF, HK33, D1S2223E, PBD12A"	600279	"Peroxisome biogenesis disorder 12A (Zellweger), 614886 (3)"	614886	10051604
ENSG00000162736	NCSTN	605254	"Acne inversa, familial, 1, 142690 (3)"	142690	20929727
ENSG00000162738	"VANGL2, LTAP"	600533	"Neural tube defects, 182940 (3)"	182940	20558380
ENSG00000162769	FLVCR1	609144	"Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)"	609033	21070897
ENSG00000162885	"B3GALNT2, MGC39558, MDDGA11"	610194	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)"	615181	23453667
ENSG00000162928	"PEX13, ZWS, NALD, PBD11A, PBD11B"	601789	"Peroxisome biogenesis disorder 11A (Zellweger), 614883 (3)"	614883	10332040
ENSG00000162928	"PEX13, ZWS, NALD, PBD11A, PBD11B"	601789	"Peroxisome biogenesis disorder 11B, 614885 (3)"	614885	10441568
ENSG00000162992	"NEUROD1, NIDDM"	601724	"Maturity-onset diabetes of the young 6, 606394 (3)"	606394	10545951
ENSG00000163017	"ACTG2, ACTA3, VSCM"	102545	"Visceral myopathy, 155310 (3)"	155310	22960657
ENSG00000163050	COQ8A	606980	"Coenzyme Q10 deficiency, primary, 4, 612016 (3)"	612016	"18319072, 18319074"
ENSG00000163069	"SGCB, LGMD2E"	600900	"Muscular dystrophy, limb-girdle, type 2E, 604286 (3)"	604286	7581448
ENSG00000163093	BBS5	603650	"Bardet-Biedl syndrome 5, 615983 (3)"	615983	15137946
ENSG00000163104	SMARCAD1	612761	"Adermatoglyphia, 136000 (3)"	136000	21820097
ENSG00000163104	SMARCAD1	612761	"Basan syndrome, 129200 (3)"	129200	24664640
ENSG00000163132	MSX1	142983	"Ectodermal dysplasia 3, Witkop type, 189500 (3)"	189500	11369996
ENSG00000163132	"MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3"	142983	"Orofacial cleft 5, 608874 (3)"	608874	9683588
ENSG00000163132	"MSX1, HOX7, HYD1, OFC5, STHAG1, ECTD3"	142983	"Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3)"	106600	8696335
ENSG00000163161	"ERCC3, XPB, TTD2"	133510	"Trichothiodystrophy 2, photosensitive, 616390 (3)"	616390	9012405
ENSG00000163161	"ERCC3, XPB, TTD2"	133510	"Xeroderma pigmentosum, group B, 610651 (3)"	610651	2167179
ENSG00000163170	"BOLA3, MMDS2"	613183	"Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299 (3)"	614299	21944046
ENSG00000163254	CRYGC	123680	"Cataract 2, multiple types, 604307 (3)"	604307	10521291
ENSG00000163288	GABRB1	137190	"Epileptic encephalopathy, early infantile, 45, 617153 (3)"	617153	23934111
ENSG00000163297	ANTXR2	608041	"Hyaline fibromatosis syndrome, 228600 (3)"	228600	"12973667, 14508707"
ENSG00000163344	"PMVK, PMK, POROK1"	607622	"Porokeratosis 1, multiple types, 175800 (3)"	175800	26202976
ENSG00000163347	CLDN1	603718	"Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)"	607626	15521008
ENSG00000163359	COL6A3	120250	"Dystonia 27, 616411 (3)"	616411	26004199
ENSG00000163359	"COL6A3, DYT27, BTHLM1, UCMD1"	120250	"Ullrich congenital muscular dystrophy 1, 254090 (3)"	254090	11992252
ENSG00000163374	YY1AP1	607860	"Grange syndrome, 602531 (3)"	602531	27939641
ENSG00000163378	EOGT	614789	"Adams-Oliver syndrome 4, 615297 (3)"	615297	23522784
ENSG00000163380	"LMOD3, NEM10"	616112	"Nemaline myopathy 10, 616165 (3)"	616165	25250574
ENSG00000163382	NAXE	608862	"Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3)"	617186	27122014
ENSG00000163389	POGLUT1	615618	"?Muscular dystrophy, limb-girdle, type 2Z, 617232 (3)"	617232	27807076
ENSG00000163389	POGLUT1	615618	"Dowling-Degos disease 4, 615696 (3)"	615696	24387993
ENSG00000163421	PROK2	607002	"Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3)"	610628	17054399
ENSG00000163453	"IGFBP7, MAC25, RAMSVPS"	602867	"Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)"	614224	21835307
ENSG00000163499	CRYBA2	600836	"?Cataract 42, 115900 (3)"	115900	23508780
ENSG00000163501	IHH	600726	"Acrocapitofemoral dysplasia, 607778 (3)"	607778	12632327
ENSG00000163501	IHH	600726	"Brachydactyly, type A1, 112500 (3)"	112500	12525541
ENSG00000163513	"TGFBR2, HNPCC6, AAT3, MFS2, LDS2"	190182	"Loeys-Dietz syndrome 2, 610168 (3)"	610168	15235604
ENSG00000163527	STT3B	608605	"?Congenital disorder of glycosylation, type Ix, 615597 (3)"	615597	23842455
ENSG00000163536	SERPINI1	602445	"Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3)"	604218	10517635
ENSG00000163541	"SUCLG1, SUCLA1, MTDPS9"	611224	"Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)"	245400	17668387
ENSG00000163554	SPTA1	182860	"Elliptocytosis-2, 130600 (3)"	130600	3597773
ENSG00000163554	"SPTA1, EL2, SPH3, HS3, HPP"	182860	"Pyropoikilocytosis, 266140 (3)"	266140	1541680
ENSG00000163554	"SPTA1, EL2, SPH3, HS3, HPP"	182860	"Spherocytosis, type 3, 270970 (3)"	270970	"Marchesi, S. L., Agre, P. A., Speicher, D. W., Tse, W. T., Forget, B. G. Mutant spectrin alpha-II domain in recessively inherited spherocytosis. Blood Suppl. 1: 682 only, 1989."
ENSG00000163581	SLC2A2	138160	"Fanconi-Bickel syndrome, 227810 (3)"	227810	9354798
ENSG00000163599	CTLA4	123890	"Autoimmune lymphoproliferative syndrome, type V, 616100 (3)"	616100	"25213377, 25329329"
ENSG00000163599	"CTLA4, IDDM12, CELIAC3, ALPS5"	123890	"{Diabetes mellitus, insulin-dependent, 12}, 601388 (3)"	601388	8817351
ENSG00000163600	ICOS	604558	"Immunodeficiency, common variable, 1, 607594 (3)"	607594	12577056
ENSG00000163631	ALB	103600	"Analbuminemia, 616000 (3)"	616000	3353369
ENSG00000163631	ALB	103600	"[Dysalbuminemic hyperthyroxinemia], 615999 (3)"	615999	8064810
ENSG00000163635	"ATXN7, SCA7, OPCA3"	607640	"Spinocerebellar ataxia 7, 164500 (3)"	164500	7477379
ENSG00000163644	PPM1K	611065	"?Maple syrup urine disease, mild variant, 615135 (3)"	615135	23086801
ENSG00000163646	"CLRN1, USH3A, USH3, RP61"	606397	"Retinitis pigmentosa 61, 614180 (3)"	614180	21310491
ENSG00000163646	"CLRN1, USH3A, USH3, RP61"	606397	"Usher syndrome, type 3A, 276902 (3)"	276902	11524702
ENSG00000163666	HESX1	601802	"Growth hormone deficiency with pituitary anomalies, 182230 (3)"	182230	9620767
ENSG00000163666	"HESX1, RPX, CPHD5"	601802	"Pituitary hormone deficiency, combined, 5, 182230 (3)"	182230	9620767
ENSG00000163666	"HESX1, RPX, CPHD5"	601802	"Septooptic dysplasia, 182230 (3)"	182230	9620767
ENSG00000163687	"DNASE1L3, SLEB16"	602244	"Systemic lupus erythematosus 16, 614420 (3)"	614420	22019780
ENSG00000163702	IL17RC	610925	"Candidiasis, familial, 9, 616445 (3)"	616445	25918342
ENSG00000163703	CRELD1	607170	"Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3)"	606217	12632326
ENSG00000163754	GYG1	603942	"?Glycogen storage disease XV, 613507 (3)"	613507	20357282
ENSG00000163754	"GYG1, GSD15"	603942	"Polyglucosan body myopathy 2, 616199 (3)"	616199	25272951
ENSG00000163755	HPS3	606118	"Hermansky-Pudlak syndrome 3, 614072 (3)"	614072	11455388
ENSG00000163795	ZNF513	613598	"?Retinitis pigmentosa 58, 613617 (3)"	613617	20797688
ENSG00000163818	LZTFL1	606568	"Bardet-Biedl syndrome 17, 615994 (3)"	615994	22510444
ENSG00000163820	FYCO1	607182	"Cataract 18, autosomal recessive, 610019 (3)"	610019	21636066
ENSG00000163848	ZNF148	601897	"Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3)"	617260	27964749
ENSG00000163877	"SNIP1, PMRED"	608241	"Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501 (3)"	614501	22279524
ENSG00000163898	LIPH	607365	"Hypotrichosis 7, 604379 (3)"	604379	17095700
ENSG00000163898	"LIPH, LAH2, ARWH2, HYPT7"	607365	"Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 (3)"	604379	17095700
ENSG00000163913	IFT122	606045	"Cranioectodermal dysplasia 1, 218330 (3)"	218330	20493458
ENSG00000163914	"RHO, RP4, OPN2, CSNBAD1"	180380	"Night blindness, congenital stationary, autosomal dominant 1, 610445 (3)"	610445	7846071
ENSG00000163914	"RHO, RP4, OPN2, CSNBAD1"	180380	"Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3)"	613731	2137202
ENSG00000163914	"RHO, RP4, OPN2, CSNBAD1"	180380	"Retinitis punctata albescens, 136880 (3)"	136880	2137202
ENSG00000163930	"BAP1, TPDS"	603089	"Tumor predisposition syndrome, 614327 (3)"	614327	21874003
ENSG00000163931	"TKT, SDDHD"	606781	"Short stature, developmental delay, and congenital heart defects, 617044 (3)"	617044	27259054
ENSG00000163932	PRKCD	176977	"Autoimmune lymphoproliferative syndrome, type III, 615559 (3)"	615559	23319571
ENSG00000163933	RFT1	611908	"Congenital disorder of glycosylation, type In, 612015 (3)"	612015	18313027
ENSG00000163945	"UVSSA, KIAA1530, UVSS3"	614632	"UV-sensitive syndrome 3, 614640 (3)"	614640	22466610
ENSG00000163956	"LRPAP1, A2MRAP, MYP23"	104225	"Myopia 23, autosomal recessive, 615431 (3)"	615431	23830514
ENSG00000163961	RNF168	612688	"RIDDLE syndrome, 611943 (3)"	611943	19203578
ENSG00000164007	CLDN19	610036	"Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)"	248190	17033971
ENSG00000164022	"AIMP1, SCYE1, EMAP2, EMAPII, HLD3"	603605	"Leukodystrophy, hypomyelinating, 3, 260600 (3)"	260600	21092922
ENSG00000164073	MFSD8	611124	"Ceroid lipofuscinosis, neuronal, 7, 610951 (3)"	610951	17564970
ENSG00000164073	"MFSD8, MGC33302, CLN7, CCMD"	611124	"Macular dystrophy with central cone involvement, 616170 (3)"	616170	25227500
ENSG00000164087	"POC1A, PIX2, SOFT"	614783	"Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)"	614813	22840364
ENSG00000164093	PITX2	601542	"Anterior segment dysgenesis 4, 137600 (3)"	137600	9437321
ENSG00000164093	PITX2	601542	"Axenfeld-Rieger syndrome, type 1, 180500 (3)"	180500	8944018
ENSG00000164093	"PITX2, IDG2, RIEG1, RGS, IGDS2, ASGD4"	601542	"Ring dermoid of cornea, 180550 (3)"	180550	15591271
ENSG00000164099	"PRSS12, BSSP3, MRT1"	606709	"Mental retardation, autosomal recessive 1, 249500 (3)"	249500	12459588
ENSG00000164116	"GUCY1A3, GUC1A3, GUCSA3, MYMY6"	139396	"Moyamoya 6 with achalasia, 615750 (3)"	615750	24581742
ENSG00000164120	HPGD	601688	"Cranioosteoarthropathy, 259100 (3)"	259100	18500342
ENSG00000164120	HPGD	601688	"Digital clubbing, isolated congenital, 119900 (3)"	119900	18805827
ENSG00000164120	HPGD	601688	"Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)"	259100	18500342
ENSG00000164171	ITGA2	192974	"?Glycoprotein Ia deficiency, 614200 (1)"	614200	
ENSG00000164172	"MOCS2, MPTS, MOCODB"	603708	"Molybdenum cofactor deficiency B, 252160 (3)"	252160	10053004
ENSG00000164175	SLC45A2	606202	"Albinism, oculocutaneous, type IV, 606574 (3)"	606574	11574907
ENSG00000164182	"NDUFAF2, NDUFA12L, MMTN, B17.2L"	609653	"Leigh syndrome, 256000 (3)"	256000	
ENSG00000164182	"NDUFAF2, NDUFA12L, MMTN, B17.2L"	609653	"Mitochondrial complex I deficiency, 252010 (3)"	252010	16200211
ENSG00000164190	NIPBL	608667	"Cornelia de Lange syndrome 1, 122470 (3)"	122470	15146185
ENSG00000164199	ADGRV1	602851	"?Febrile seizures, familial, 4, 604352 (3)"	604352	12402266
ENSG00000164199	"ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C"	602851	"Usher syndrome, type 2C, 605472 (3)"	605472	14740321
ENSG00000164199	"ADGRV1, GPR98, MASS1, VLGR1, KIAA0686, FEB4, USH2C"	602851	"Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3)"	605472	20440071
ENSG00000164209	"SLC25A46, HMSN6B"	610826	"Neuropathy, hereditary motor and sensory, type VIB, 616505 (3)"	616505	26168012
ENSG00000164258	"NDUFS4, AQDQ"	602694	"Leigh syndrome, 256000 (3)"	256000	11181577
ENSG00000164258	"NDUFS4, AQDQ"	602694	"Mitochondrial complex I deficiency, 252010 (3)"	252010	9463323
ENSG00000164266	"SPINK1, PSTI, PCTT, TATI, TCP"	167790	"Pancreatitis, hereditary, 167800 (3)"	167800	10835640
ENSG00000164266	"SPINK1, PSTI, PCTT, TATI, TCP"	167790	"Tropical calcific pancreatitis, 608189 (3)"	608189	12011155
ENSG00000164306	"CCDC111, MYP22"	615421	"Myopia 22, autosomal dominant, 615420 (3)"	615420	23579484
ENSG00000164344	KLKB1	229000	"Fletcher factor (prekallikrein) deficiency, 612423 (3)"	612423	15461630
ENSG00000164362	"TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9"	187270	"{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)"	613989	16247010
ENSG00000164362	"TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9"	187270	"{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)"	613989	16247010
ENSG00000164362	"TERT, TCS1, EST2, DKCA2, DKCB4, PFBMFT1, CMM9"	187270	"{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)"	614742	15814878
ENSG00000164405	"UQCRQ, QPC, MC3DN4"	612080	"Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)"	615159	18439546
ENSG00000164414	SLC35A1	605634	"Congenital disorder of glycosylation, type IIf, 603585 (3)"	603585	15576474
ENSG00000164418	"GRIK2, GLUR6, MRT6"	138244	"Mental retardation, autosomal recessive, 6, 611092 (3)"	611092	17847003
ENSG00000164442	CITED2	602937	"Atrial septal defect 8, 614433 (3)"	614433	16287139
ENSG00000164442	"CITED2, MRG1, P35SRJ, VSD2, ASD8"	602937	"Ventricular septal defect 2, 614431 (3)"	614431	16287139
ENSG00000164458	"T, TFT, SAVA"	601397	"Sacral agenesis with vertebral anomalies, 615709 (3)"	615709	24253444
ENSG00000164494	PDSS2	610564	"Coenzyme Q10 deficiency, primary, 3, 614652 (3)"	614652	17186472
ENSG00000164509	IL31RA	609510	"Amyloidosis, primary localized cutaneous, 2, 613955 (3)"	613955	19690585
ENSG00000164532	TBX20	606061	"Atrial septal defect 4, 611363 (3)"	611363	17668378
ENSG00000164588	HCN1	602780	"Epileptic encephalopathy, early infantile, 24, 615871 (3)"	615871	24747641
ENSG00000164597	COG5	606821	"Congenital disorder of glycosylation, type IIi, 613612 (3)"	613612	19690088
ENSG00000164610	RP9	607331	"?Retinitis pigmentosa 9, 180104 (3)"	180104	12032732
ENSG00000164619	BMPER	608699	"Diaphanospondylodysostosis, 608022 (3)"	608022	20869035
ENSG00000164690	SHH	600725	"Holoprosencephaly 3, 142945 (3)"	142945	8896572
ENSG00000164690	"SHH, HPE3, HLP3, SMMCI, MCOPCB5"	600725	"Microphthalmia with coloboma 5, 611638 (3)"	611638	12503095
ENSG00000164690	"SHH, HPE3, HLP3, SMMCI, MCOPCB5"	600725	"Schizencephaly, 269160 (3)"	269160	19533790
ENSG00000164690	"SHH, HPE3, HLP3, SMMCI, MCOPCB5"	600725	"Single median maxillary central incisor, 147250 (3)"	147250	11471164
ENSG00000164692	COL1A2	120160	"Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)"	225320	15077201
ENSG00000164692	COL1A2	120160	"Ehlers-Danlos syndrome, type VIIB, 130060 (3)"	130060	2767050
ENSG00000164692	COL1A2	120160	"Osteogenesis imperfecta, type II, 166210 (3)"	166210	6304100
ENSG00000164692	COL1A2	120160	"Osteogenesis imperfecta, type III, 259420 (3)"	259420	9099837
ENSG00000164692	COL1A2	120160	"Osteogenesis imperfecta, type IV, 166220 (3)"	166220	2897363
ENSG00000164708	PGAM2	612931	"Glycogen storage disease X, 261670 (3)"	261670	8447317
ENSG00000164736	"SOX17, VUR3"	610928	"Vesicoureteral reflux 3, 613674 (3)"	613674	20960469
ENSG00000164742	ADCY1	103072	"?Deafness, autosomal recessive 44, 610154 (3)"	610154	24482543
ENSG00000164751	"PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3"	170993	"Peroxisome biogenesis disorder 5A (Zellweger), 614866 (3)"	614866	1546315
ENSG00000164751	"PEX2, PAF1, PMP35, PBD5A, PBD5B, PXMP3"	170993	"Peroxisome biogenesis disorder 5B, 614867 (3)"	614867	10528859
ENSG00000164754	RAD21	606462	"Cornelia de Lange syndrome 4, 614701 (3)"	614701	22633399
ENSG00000164761	"TNFRSF11B, OPG, OCIF, PDB5"	602643	"Paget disease of bone 5, juvenile-onset, 239000 (3)"	239000	12124406
ENSG00000164818	DNAAF5	614864	"Ciliary dyskinesia, primary, 18, 614874 (3)"	614874	23040496
ENSG00000164885	CDK5	123831	"?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3)"	616342	25560765
ENSG00000164904	ALDH7A1	107323	"Epilepsy, pyridoxine-dependent, 266100 (3)"	266100	16491085
ENSG00000164930	"FZD6, NDNC10"	603409	"Nail disorder, nonsyndromic congenital, 10, (claw-shaped nails), 614157 (3)"	614157	21665003
ENSG00000164933	SLC25A32	610815	"?Exercise intolerance, riboflavin-responsive, 616839 (3)"	616839	26933868
ENSG00000164946	FREM1	608944	"Bifid nose with or without anorectal and renal anomalies, 608980 (3)"	608980	19732862
ENSG00000164946	"FREM1, C9orf154, BNAR, MOTA, TRIGNO2"	608944	"Manitoba oculotrichoanal syndrome, 248450 (3)"	248450	21507892
ENSG00000164946	"FREM1, C9orf154, BNAR, MOTA, TRIGNO2"	608944	"Trigonocephaly 2, 614485 (3)"	614485	21931569
ENSG00000164951	"PDP1, PPM2C, PDP1, PDPC"	605993	"Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)"	608782	15855260
ENSG00000164953	TMEM67	609884	"Joubert syndrome 6, 610688 (3)"	610688	17160906
ENSG00000164953	"TMEM67, MKS3, JBTS6, NPHP11"	609884	"Meckel syndrome 3, 607361 (3)"	607361	16415887
ENSG00000164953	"TMEM67, MKS3, JBTS6, NPHP11"	609884	"Nephronophthisis 11, 613550 (3)"	613550	19508969
ENSG00000164961	"KIAA0196, SPG8, RTSC1"	610657	"Ritscher-Schinzel syndrome 1, 220210 (3)"	220210	24065355
ENSG00000164961	"KIAA0196, SPG8, RTSC1"	610657	"Spastic paraplegia 8, autosomal dominant, 603563 (3)"	603563	17160902
ENSG00000165029	ABCA1	600046	"HDL deficiency, type 2, 604091 (3)"	604091	10431236
ENSG00000165029	"ABCA1, ABC1, HDLDT1, TGD"	600046	"Tangier disease, 205400 (3)"	205400	10431236
ENSG00000165059	PRKACG	176893	"?Bleeding disorder, platelet-type, 19, 616176 (3)"	616176	25061177
ENSG00000165060	FXN	606829	"Friedreich ataxia with retained reflexes, 229300 (3)"	229300	10543403
ENSG00000165060	FXN	606829	"Friedreich ataxia, 229300 (3)"	229300	10543403
ENSG00000165078	CPA6	609562	"Epilepsy, familial temporal lobe, 5, 614417 (3)"	614417	21922598
ENSG00000165078	CPA6	609562	"Febrile seizures, familial, 11, 614418 (3)"	614418	21922598
ENSG00000165091	TMC1	606706	"Deafness, autosomal dominant 36, 606705 (3)"	606705	11850618
ENSG00000165091	TMC1	606706	"Deafness, autosomal recessive 7, 600974 (3)"	600974	11850618
ENSG00000165102	"HGSNAT, TMEM76, MPS3C, RP73"	610453	"Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)"	252930	16960811
ENSG00000165102	"HGSNAT, TMEM76, MPS3C, RP73"	610453	"Retinitis pigmentosa 73, 616544 (3)"	616544	25859010
ENSG00000165119	HNRNPK	600712	"Au-Kline syndrome, 616580 (3)"	616580	26173930
ENSG00000165138	"ANKS6, PKDR1, NPHP16"	615370	"Nephronophthisis 16, 615382 (3)"	615382	23793029
ENSG00000165140	FBP1	611570	"Fructose-1,6-bisphosphatase deficiency, 229700 (3)"	229700	7763253
ENSG00000165168	CYBB	300481	"Chronic granulomatous disease, X-linked, 306400 (3)"	306400	2556453
ENSG00000165168	CYBB	300481	"Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3)"	300645	21278736
ENSG00000165194	PCDH19	300460	"Epileptic encephalopathy, early infantile, 9, 300088 (3)"	300088	18469813
ENSG00000165195	"PIGA, PNH1, MCAHS2"	311770	"Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)"	300868	22305531
ENSG00000165240	"ATP7A, MNK, MK, OHS, SMAX3"	300011	"Menkes disease, 309400 (3)"	309400	7731706
ENSG00000165240	"ATP7A, MNK, MK, OHS, SMAX3"	300011	"Occipital horn syndrome, 304150 (3)"	304150	7842019
ENSG00000165240	"ATP7A, MNK, MK, OHS, SMAX3"	300011	"Spinal muscular atrophy, distal, X-linked 3, 300489 (3)"	300489	20170900
ENSG00000165280	VCP	601023	"Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)"	613954	21145000
ENSG00000165280	VCP	601023	"Charcot-Marie-Tooth disease, type 2Y, 616687 (3)"	616687	25125609
ENSG00000165280	VCP	601023	"Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)"	167320	15034582
ENSG00000165282	PIGO	614730	"Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)"	614749	22683086
ENSG00000165288	"BRWD3, MRX93"	300553	"Mental retardation, X-linked 93, 300659 (3)"	300659	17668385
ENSG00000165370	"GPR101, PAGH2"	300393	"Pituitary adenoma, growth hormone-secreting 2, 300943 (3)"	300943	25470569
ENSG00000165392	"RECQL2, RECQ3, WRN"	604611	"Werner syndrome, 277700 (3)"	277700	8602509
ENSG00000165409	TSHR	603372	"Hyperthyroidism, nonautoimmune, 609152 (3)"	609152	7920658
ENSG00000165410	"CFL2, NEM7"	601443	"Nemaline myopathy 7, autosomal recessive, 610687 (3)"	610687	17160903
ENSG00000165458	"INPPL1, OPSMD"	600829	"Opsismodysplasia, 258480 (3)"	258480	23273567
ENSG00000165462	PHOX2A	602753	"Fibrosis of extraocular muscles, congenital, 2, 602078 (3)"	602078	11600883
ENSG00000165474	GJB2	121011	"Bart-Pumphrey syndrome, 149200 (3)"	149200	15482471
ENSG00000165474	GJB2	121011	"Deafness, autosomal dominant 3A, 601544 (3)"	601544	9139825
ENSG00000165474	GJB2	121011	"Deafness, autosomal recessive 1A, 220290 (3)"	220290	9139825
ENSG00000165474	GJB2	121011	"Hystrix-like ichthyosis with deafness, 602540 (3)"	602540	12072059
ENSG00000165474	"GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID"	121011	"Keratitis-ichthyosis-deafness syndrome, 148210 (3)"	148210	11918723
ENSG00000165474	"GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID"	121011	"Keratoderma, palmoplantar, with deafness, 148350 (3)"	148350	10633135
ENSG00000165474	"GJB2, CX26, DFNB1A, PPK, DFNA3A, KID, HID"	121011	"Vohwinkel syndrome, 124500 (3)"	124500	10369869
ENSG00000165478	"HEPACAM, MLC2A, MLC2B"	611642	"Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)"	613925	21419380
ENSG00000165478	"HEPACAM, MLC2A, MLC2B"	611642	"Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)"	613926	21419380
ENSG00000165506	DNAAF2	612517	"Ciliary dyskinesia, primary, 10, 612518 (3)"	612518	19052621
ENSG00000165533	TTC8	608132	"?Retinitis pigmentosa 51, 613464 (3)"	613464	20451172
ENSG00000165533	TTC8	608132	"Bardet-Biedl syndrome 8, 615985 (3)"	615985	14520415
ENSG00000165588	"OTX2, MCOPS5, CPHD6"	600037	"Microphthalmia, syndromic 5, 610125 (3)"	610125	15846561
ENSG00000165588	"OTX2, MCOPS5, CPHD6"	600037	"Pituitary hormone deficiency, combined, 6, 613986 (3)"	613986	18728160
ENSG00000165588	"OTX2, MCOPS5, CPHD6"	600037	"Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3)"	610125	15846561
ENSG00000165671	"NSD1, ARA267, STO, SOTOS1"	606681	"Sotos syndrome 1, 117550 (3)"	117550	11896389
ENSG00000165688	"PMPCA, KIAA0123, SCAR2"	613036	"Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)"	213200	25808372
ENSG00000165694	"FRMD7, NYS1, XIPAN"	300628	"Nystagmus 1, congenital, X-linked, 310700 (3)"	310700	17013395
ENSG00000165694	"FRMD7, NYS1, XIPAN"	300628	"Nystagmus, infantile periodic alternating, X-linked, 310700 (3)"	310700	17013395
ENSG00000165699	"TSC1, LAM"	605284	"Lymphangioleiomyomatosis, 606690 (3)"	606690	9529362
ENSG00000165699	"TSC1, LAM"	605284	"Tuberous sclerosis-1, 191100 (3)"	191100	9242607
ENSG00000165702	GFI1B	604383	"Bleeding disorder, platelet-type, 17, 187900 (3)"	187900	24325358
ENSG00000165704	HPRT1	308000	"HPRT-related gout, 300323 (3)"	300323	11891689
ENSG00000165704	"HPRT1, HPRT"	308000	"Lesch-Nyhan syndrome, 300322 (3)"	300322	6020292
ENSG00000165730	"STOX1, PEE4"	609397	"Preeclampsia/eclampsia 4, 609404 (3)"	609404	15806103
ENSG00000165731	"RET, MEN2A, HSCR1"	164761	"Medullary thyroid carcinoma, 155240 (3)"	155240	16205644
ENSG00000165731	"RET, MEN2A, HSCR1"	164761	"Multiple endocrine neoplasia IIA, 171400 (3)"	171400	2886917
ENSG00000165731	"RET, MEN2A, HSCR1"	164761	"Multiple endocrine neoplasia IIB, 162300 (3)"	162300	7906866
ENSG00000165731	"RET, MEN2A, HSCR1"	164761	"Pheochromocytoma, 171300 (3)"	171300	8825918
ENSG00000165733	BMS1	611448	"?Aplasia cutis congenita, nonsyndromic, 107600 (3)"	107600	23785305
ENSG00000165802	NSMF	608137	"Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3)"	614838	15362570
ENSG00000165821	SALL2	602219	"?Coloboma, ocular, autosomal recessive, 216820 (3)"	216820	24412933
ENSG00000165841	"CYP2C, CYP2C19"	124020	"Mephenytoin poor metabolizer, 609535 (3)"	609535	3442670
ENSG00000165898	"ISCA2, MMDS4"	615317	"Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)"	616370	25539947
ENSG00000165899	OTOGL	614925	"Deafness, autosomal recessive 84B, 614944 (3)"	614944	23122586
ENSG00000165915	SLC39A13	608735	"Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, 612350 (3)"	612350	18513683
ENSG00000165917	"RAPSN, CMS1D, CMS11, FADS"	601592	"Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)"	616326	11791205
ENSG00000165970	SLC6A5	604159	"Hyperekplexia 3, 614618 (3)"	614618	16751771
ENSG00000165995	CACNB2	600003	"Brugada syndrome 4, 611876 (3)"	611876	17224476
ENSG00000166033	HTRA1	602194	"CARASIL syndrome, 600142 (3)"	600142	19387015
ENSG00000166033	HTRA1	602194	"Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3)"	616779	26063658
ENSG00000166033	"HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2"	602194	"{Macular degeneration, age-related, 7}, 610149 (3)"	610149	17053108
ENSG00000166033	"HTRA1, PRSS11, ARMD7, CARASIL, CADASIL2"	602194	"{Macular degeneration, age-related, neovascular type}, 610149 (3)"	610149	17053108
ENSG00000166035	LIPC	151670	"Hepatic lipase deficiency, 614025 (3)"	614025	1883393
ENSG00000166037	"CEP57, PIG8, TSP57, KIAA0092, MVA2"	607951	"Mosaic variegated aneuploidy syndrome 2, 614114 (3)"	614114	21552266
ENSG00000166068	"SPRED1, NFLS"	609291	"Legius syndrome, 611431 (3)"	611431	17704776
ENSG00000166086	JAM3	606871	"Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)"	613730	21109224
ENSG00000166123	"GPT2, ALT2, MRT49"	138210	"Mental retardation, autosomal recessive 49, 616281 (3)"	616281	25758935
ENSG00000166126	AMN	605799	"Megaloblastic anemia-1, Norwegian type, 261100 (3)"	261100	12590260
ENSG00000166147	FBN1	134797	"Acromicric dysplasia, 102370 (3)"	102370	21683322
ENSG00000166147	FBN1	134797	"Ectopia lentis, familial, 129600 (3)"	129600	15054843
ENSG00000166147	FBN1	134797	"Geleophysic dysplasia 2, 614185 (3)"	614185	21683322
ENSG00000166147	"FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS"	134797	"Marfan lipodystrophy syndrome, 616914 (3)"	616914	20979188
ENSG00000166147	"FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS"	134797	"Marfan syndrome, 154700 (3)"	154700	1852208
ENSG00000166147	"FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS"	134797	"MASS syndrome, 604308 (3)"	604308	8406497
ENSG00000166147	"FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS"	134797	"Stiff skin syndrome, 184900 (3)"	184900	20375004
ENSG00000166147	"FBN1, MFS1, WMS2, SSKS, GPHYSD2, ACMICD, ECTOL1, MFLS"	134797	"Weill-Marchesani syndrome 2, dominant, 608328 (3)"	608328	12525539
ENSG00000166189	HPS6	607522	"Hermansky-Pudlak syndrome 6, 614075 (3)"	614075	12548288
ENSG00000166206	GABRB3	137192	"Epileptic encephalopathy, early infantile, 43, 617113 (3)"	617113	23934111
ENSG00000166228	PCBD1	126090	"Hyperphenylalaninemia, BH4-deficient, D, 264070 (3)"	264070	8352282
ENSG00000166250	CLMP	611693	"Congenital short bowel syndrome, 615237 (3)"	615237	22155368
ENSG00000166257	SCN3B	608214	"Atrial fibrillation, familial, 16, 613120 (3)"	613120	20558140
ENSG00000166257	SCN3B	608214	"Brugada syndrome 7, 613120 (3)"	613120	20031595
ENSG00000166278	C2	613927	"C2 deficiency, 217000 (3)"	217000	10.1007/bf01572325
ENSG00000166311	"SMPD1, NPD"	607608	"Niemann-Pick disease, type A, 257200 (3)"	257200	2023926
ENSG00000166311	"SMPD1, NPD"	607608	"Niemann-Pick disease, type B, 607616 (3)"	607616	2023926
ENSG00000166326	TRIM44	612298	"?Aniridia 3, 617142 (3)"	617142	26394807
ENSG00000166340	TPP1	607998	"Ceroid lipofuscinosis, neuronal, 2, 204500 (3)"	204500	9295267
ENSG00000166340	"TPP1, CLN2, SCAR7"	607998	"Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)"	609270	23418007
ENSG00000166341	"DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2"	603057	"Mitral valve prolapse 2, 607829 (3)"	607829	26258302
ENSG00000166341	"DCHS1, PCDH16, FIB1, CDH19, VMLDS1, MVP2"	603057	"Van Maldergem syndrome 1, 601390 (3)"	601390	24056717
ENSG00000166347	CYB5A	613218	"?Methemoglobinemia, type IV, 250790 (3)"	250790	"Steggles, A. W., Kaftory, A., Giordano, S. J. The analysis of type IV methemoglobinemia: identification of a patient lacking cytochrome b5. (Abstract) Am. J. Hum. Genet. 51 (suppl.): A177 only, 1992."
ENSG00000166349	RAG1	179615	"Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)"	609889	16276422
ENSG00000166349	RAG1	179615	"Omenn syndrome, 603554 (3)"	603554	9630231
ENSG00000166349	RAG1	179615	"Severe combined immunodeficiency, B cell-negative, 601457 (3)"	601457	8810255
ENSG00000166396	"SERPINB7, MEGSIN, PPKN"	603357	"Palmoplantar keratoderma, Nagashima type, 615598 (3)"	615598	24207119
ENSG00000166401	"SERPINB8, PI8, CAP2, PSS5"	601697	"Peeling skin syndrome 5, 617115 (3)"	617115	27476651
ENSG00000166402	TUB	601197	"?Retinal dystrophy and obesity, 616188 (3)"	616188	24375934
ENSG00000166415	WDR72	613214	"Amelogenesis imperfecta, type IIA3, 613211 (3)"	613211	19853237
ENSG00000166546	"BEAN, SCA31"	612051	"Spinocerebellar ataxia 31, 117210 (3)"	117210	19878914
ENSG00000166548	TK2	188250	"?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)"	617069	21937588
ENSG00000166548	"TK2, MTDPS2, PEOB3"	188250	"Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)"	609560	11687801
ENSG00000166558	SLC38A8	615585	"Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)"	609218	24045842
ENSG00000166685	COG1	606973	"Congenital disorder of glycosylation, type IIg, 611209 (3)"	611209	16537452
ENSG00000166710	B2M	109700	"Immunodeficiency 43, 241600 (3)"	241600	16549777
ENSG00000166794	"PPIB, CYPB, OI9"	123841	"Osteogenesis imperfecta, type IX, 259440 (3)"	259440	19781681
ENSG00000166801	FAM111A	615292	"Gracile bone dysplasia, 602361 (3)"	602361	23684011
ENSG00000166801	"FAM111A, KIAA1895, KCS2, GCLEB"	615292	"Kenny-Caffey syndrome, type 2, 127000 (3)"	127000	23684011
ENSG00000166813	KIF7	611254	"?Al-Gazali-Bakalinova syndrome, 607131 (3)"	607131	22587682
ENSG00000166813	KIF7	611254	"?Hydrolethalus syndrome 2, 614120 (3)"	614120	21552264
ENSG00000166813	KIF7	611254	"Acrocallosal syndrome, 200990 (3)"	200990	21552264
ENSG00000166813	KIF7	611254	"Joubert syndrome 12, 200990 (3)"	200990	21633164
ENSG00000166819	"PLIN1, PLIN, FPLD4"	170290	"Lipodystrophy, familial partial, type 4, 613877 (3)"	613877	21345103
ENSG00000166828	SCNN1G	600761	"Bronchiectasis with or without elevated sweat chloride 3, 613071 (3)"	613071	18507830
ENSG00000166828	"SCNN1G, PHA1, BESC3"	600761	"Liddle syndrome, 177200 (3)"	177200	7550319
ENSG00000166828	"SCNN1G, PHA1, BESC3"	600761	"Pseudohypoaldosteronism, type I, 264350 (3)"	264350	8640238
ENSG00000166862	CACNG2	602911	"?Mental retardation, autosomal dominant 10, 614256 (3)"	614256	21376300
ENSG00000166863	TAC3	162330	"Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3)"	614839	19079066
ENSG00000166947	"EPB42, SPH5"	177070	"Spherocytosis, type 5, 612690 (3)"	612690	1558976
ENSG00000166948	"TGM6, TG6, TGY, SCA35"	613900	"Spinocerebellar ataxia 35, 613908 (3)"	613908	21106500
ENSG00000166949	"SMAD3, MADH3, LDS3"	603109	"Loeys-Dietz syndrome 3, 613795 (3)"	613795	21217753
ENSG00000166974	"MAPRE2, EB2, RP1, CSCSC2"	605789	"Symmetric circumferential skin creases, congenital, 2, 616734 (3)"	616734	26637975
ENSG00000166986	MARS	156560	"Charcot-Marie-Tooth disease, axonal, type 2U, 616280 (3)"	616280	23729695
ENSG00000166986	MARS	156560	"Interstitial lung and liver disease, 615486 (3)"	615486	24103465
ENSG00000167098	"SUN5, TSARG4, SPAG4L, SPGF16"	613942	"Spermatogenic failure 16, 617187 (3)"	617187	27640305
ENSG00000167113	COQ4	612898	"Coenzyme Q10 deficiency, primary, 7, 616276 (3)"	616276	25658047
ENSG00000167114	SLC27A4	604194	"Ichthyosis prematurity syndrome, 608649 (3)"	608649	19631310
ENSG00000167131	CCDC103	614677	"Ciliary dyskinesia, primary, 17, 614679 (3)"	614679	22581229
ENSG00000167186	COQ7	601683	"?Coenzyme Q10 deficiency, primary, 8, 616733 (3)"	616733	26084283
ENSG00000167207	NOD2	605956	"Blau syndrome, 186580 (3)"	186580	11528384
ENSG00000167207	NOD2	605956	"{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)"	266600	11385576
ENSG00000167207	"NOD2, CARD15, IBD1, CD, YAOS, BLAUS"	605956	"{Yao syndrome}, 617321 (3)"	617321	21914217
ENSG00000167210	LOXHD1	613072	"Deafness, autosomal recessive 77, 613079 (3)"	613079	19732867
ENSG00000167244	IGF2	147470	"?Growth restriction, severe, with distinctive facies, 616489 (3)"	616489	26154720
ENSG00000167286	CD3D	186790	"Immunodeficiency 19, 615617 (3)"	615617	14602880
ENSG00000167306	"MYO5B, KIAA1119"	606540	"Microvillus inclusion disease, 251850 (3)"	251850	18724368
ENSG00000167323	STIM1	605921	"Immunodeficiency 10, 612783 (3)"	612783	19420366
ENSG00000167323	"STIM1, TAM1, IMD10, STRMK"	605921	"Myopathy, tubular aggregate, 1 160565 (3)"	160565	23332920
ENSG00000167323	"STIM1, TAM1, IMD10, STRMK"	605921	"Stormorken syndrome, 185070 (3)"	185070	24619930
ENSG00000167371	PRRT2	614386	"Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 (3)"	602066	22120146
ENSG00000167371	PRRT2	614386	"Episodic kinesigenic dyskinesia 1, 128200 (3)"	128200	22101681
ENSG00000167371	"PRRT2, PKC, DYT10, EKD1, BFIS2, BFIC2, ICCA"	614386	"Seizures, benign familial infantile, 2, 605751 (3)"	605751	22243967
ENSG00000167397	"VKORC1, VKOR, VKCFD2, FLJ00289"	608547	"Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)"	607473	14765194
ENSG00000167434	"CA4, RP17"	114760	"Retinitis pigmentosa 17, 600852 (3)"	600852	15090652
ENSG00000167468	"GPX4, SMDS"	138322	"Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)"	250220	24706940
ENSG00000167508	"MVD, MPD, POROK7"	603236	"Porokeratosis 7, multiple types, 614714 (3)"	614714	26202976
ENSG00000167513	CDT1	605525	"Meier-Gorlin syndrome 4, 613804 (3)"	613804	21358632
ENSG00000167522	ANKRD11	611192	"KBG syndrome, 148050 (3)"	148050	21782149
ENSG00000167522	"ANKRD11, ANCO1, KBGS"	611192	"KBG syndrome, 148050 (3)"	148050	21782149
ENSG00000167548	KMT2D	602113	"Kabuki syndrome 1, 147920 (3)"	147920	20711175
ENSG00000167548	"KMT2D, MLL2, ALR, KABUK1"	602113	"Kabuki syndrome 1, 147920 (3)"	147920	20711175
ENSG00000167552	"TUBA1A, TUBA3, LIS3"	602529	"Lissencephaly 3, 611603 (3)"	611603	"17218254, 17584854"
ENSG00000167580	AQP2	107777	"Diabetes insipidus, nephrogenic, 125800 (3)"	125800	8140421
ENSG00000167588	GPD1	138420	"Hypertriglyceridemia, transient infantile, 614480 (3)"	614480	22226083
ENSG00000167632	"TRAPPC9, NIBP, KIAA1882, MRT13"	611966	"Mental retardation, autosomal recessive 13, 613192 (3)"	613192	20004763
ENSG00000167634	NLRP7	609661	"Hydatidiform mole, recurrent, 1, 231090 (3)"	231090	16462743
ENSG00000167642	SPINT2	605124	"Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3)"	270420	19185281
ENSG00000167646	DNAAF3	614566	"Ciliary dyskinesia, primary, 2, 606763 (3)"	606763	22387996
ENSG00000167654	ATCAY	608179	"Ataxia, cerebellar, Cayman type, 601238 (3)"	601238	14556008
ENSG00000167658	EEF2	130610	"?Spinocerebellar ataxia 26, 609306 (3)"	609306	23001565
ENSG00000167711	SERPINF2	613168	"Alpha-2-plasmin inhibitor deficiency, 262850 (3)"	262850	2572590
ENSG00000167716	WDR81	614218	"Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)"	610185	21885617
ENSG00000167723	TRPV3	607066	"?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)"	616400	25285920
ENSG00000167723	"TRPV3, OLMS, FNEPPK2"	607066	"Olmsted syndrome, 614594 (3)"	614594	22405088
ENSG00000167748	KLK1	147910	"[Kallikrein, decreased urinary activity of], 615953 (3)"	615953	11912256
ENSG00000167749	KLK4	603767	"Amelogenesis imperfecta, type IIA1, 204700 (3)"	204700	15235027
ENSG00000167768	KRT1	139350	"Ichthyosis histrix, Curth-Macklin type, 146590 (3)"	146590	11286616
ENSG00000167768	"KRT1, EPPK, NEPPK, EHK"	139350	"Keratosis palmoplantaris striata III, 607654 (3)"	607654	11982762
ENSG00000167768	"KRT1, EPPK, NEPPK, EHK"	139350	"Palmoplantar keratoderma, epidermolytic, 144200 (3)"	144200	11286630
ENSG00000167768	"KRT1, EPPK, NEPPK, EHK"	139350	"Palmoplantar keratoderma, nonepidermolytic, 600962 (3)"	600962	7528239
ENSG00000167775	"CD320, 8D6, 8D6A, TCBLR"	606475	"Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)"	613646	20524213
ENSG00000167791	CABP2	607314	"Deafness, autosomal recessive 93, 614899 (3)"	614899	22981119
ENSG00000167792	"NDUFV1, UQOR1"	161015	"Mitochondrial complex I deficiency, 252010 (3)"	252010	10080174
ENSG00000167941	SOST	605740	"Craniodiaphyseal dysplasia, autosomal dominant, 122860 (3)"	122860	21221996
ENSG00000167941	"SOST, VBCH, CDD, SOST1"	605740	"Sclerosteosis 1, 269500 (3)"	269500	11179006
ENSG00000167941	"SOST, VBCH, CDD, SOST1"	605740	"Van Buchem disease, 239100 (3)"	239100	11179006
ENSG00000167972	"ABCA3, ABC3, SMDP3"	601615	"Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)"	610921	15044640
ENSG00000167985	"SDHAF2, SDH5, PGL2"	613019	"Paragangliomas 2, 601650 (3)"	601650	19628817
ENSG00000167995	BEST1	607854	"Bestrophinopathy, autosomal recessive, 611809 (3)"	611809	18179881
ENSG00000167995	"BEST1, VMD2, ARB, RP50"	607854	"Macular dystrophy, vitelliform, 2, 153700 (3)"	153700	9662395
ENSG00000167995	"BEST1, VMD2, ARB, RP50"	607854	"Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)"	193220	15452077
ENSG00000167995	"BEST1, VMD2, ARB, RP50"	607854	"Retinitis pigmentosa, concentric, 613194 (3)"	613194	19853238
ENSG00000167995	"BEST1, VMD2, ARB, RP50"	607854	"Retinitis pigmentosa-50, 613194 (3)"	613194	19853238
ENSG00000167995	"BEST1, VMD2, ARB, RP50"	607854	"Vitreoretinochoroidopathy, 193220 (3)"	193220	15452077
ENSG00000167996	FTH1	134770	"?Hemochromatosis, type 5, 615517 (3)"	615517	11389486
ENSG00000168000	BSCL2	606158	"Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)"	615924	23564749
ENSG00000168000	"BSCL2, SPG17, HMN5, PELD"	606158	"Lipodystrophy, congenital generalized, type 2, 269700 (3)"	269700	11479539
ENSG00000168000	"BSCL2, SPG17, HMN5, PELD"	606158	"Neuropathy, distal hereditary motor, type VA, 600794 (3)"	600794	14981520
ENSG00000168000	"BSCL2, SPG17, HMN5, PELD"	606158	"Silver spastic paraplegia syndrome, 270685 (3)"	270685	14981520
ENSG00000168014	C2CD3	615944	"?Orofaciodigital syndrome XIV, 615948 (3)"	615948	24997988
ENSG00000168028	RPSA	150370	"Asplenia, isolated congenital, 271400 (3)"	271400	23579497
ENSG00000168036	"CTNNB1, MRD19"	116806	"Mental retardation, autosomal dominant 19, 615075 (3)"	615075	23033978
ENSG00000168040	FADD	602457	"Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations, 613759 (3)"	613759	21109225
ENSG00000168056	LTBP3	602090	"Dental anomalies and short stature, 601216 (3)"	601216	19344874
ENSG00000168137	"SETD5, KIAA1757"	615743	"Mental retardation, autosomal dominant 23, 615761 (3)"	615761	24680889
ENSG00000168214	RBPJ	147183	"Adams-Oliver syndrome 3, 614814 (3)"	614814	22883147
ENSG00000168216	"LMBRD1, LMBD1, NESI, MAHCF"	612625	"Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)"	277380	19136951
ENSG00000168237	GLYCTK	610516	"D-glyceric aciduria, 220120 (3)"	220120	20949620
ENSG00000168263	"KCNV2, KV11.1, RCD3B"	607604	"Retinal cone dystrophy 3B, 610356 (3)"	610356	16909397
ENSG00000168267	"PTF1A, PACA, PAGEN2"	607194	"Pancreatic agenesis 2, 615935 (3)"	615935	24212882
ENSG00000168267	"PTF1A, PACA, PAGEN2"	607194	"Pancreatic and cerebellar agenesis, 609069 (3)"	609069	15543146
ENSG00000168275	COA6	614772	"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)"	616501	24549041
ENSG00000168280	KIF5C	604593	"Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)"	615282	23603762
ENSG00000168282	MGAT2	602616	"Congenital disorder of glycosylation, type IIa, 212066 (3)"	212066	8808595
ENSG00000168288	MMADHC	611935	"Homocystinuria, cblD type, variant 1, 277410 (3)"	277410	18385497
ENSG00000168288	"C2orf25, MMADHC"	611935	"Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)"	277410	18385497
ENSG00000168288	"C2orf25, MMADHC"	611935	"Methylmalonic aciduria, cblD type, variant 2, 277410 (3)"	277410	18385497
ENSG00000168291	"PDHB, PDHBD"	179060	"Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)"	614111	15138885
ENSG00000168303	"MPLKIP, C7orf11, ABHS, TTDN1, TTD4"	609188	"Trichothiodystrophy 4, nonphotosensitive, 234050 (3)"	234050	15645389
ENSG00000168306	ACOX2	601641	"Bile acid synthesis defect, congenital, 6, 617308 (3)"	617308	27647924
ENSG00000168329	"CX3CR1, GPR13, V28"	601470	"{Macular degeneration, age-related, 12}, 613784 (3)"	613784	15208270
ENSG00000168356	SCN11A	604385	"Episodic pain syndrome, familial, 3, 615552 (3)"	615552	24207120
ENSG00000168356	"SCN11A, HSAN7, FEPS3"	604385	"Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3)"	615548	24036948
ENSG00000168389	"MFSD2A, MCPH15"	614397	"Microcephaly 15, primary, autosomal recessive, 616486 (3)"	616486	26005868
ENSG00000168434	COG7	606978	"Congenital disorder of glycosylation, type IIe, 608779 (3)"	608779	15107842
ENSG00000168447	SCNN1B	600760	"Bronchiectasis with or without elevated sweat chloride 1, 211400 (3)"	211400	16207733
ENSG00000168447	"SCNN1B, BESC1"	600760	"Liddle syndrome, 177200 (3)"	177200	7954808
ENSG00000168447	"SCNN1B, BESC1"	600760	"Pseudohypoaldosteronism, type I, 264350 (3)"	264350	8589714
ENSG00000168453	HR	602302	"Alopecia universalis, 203655 (3)"	203655	9445480
ENSG00000168453	HR	602302	"Atrichia with papular lesions, 209500 (3)"	209500	9758627
ENSG00000168453	HR	602302	"Hypotrichosis 4, 146550 (3)"	146550	19122663
ENSG00000168477	TNXB	600985	"Ehlers-Danlos syndrome due to tenascin X deficiency, 606408 (3)"	606408	9288108
ENSG00000168484	"SFTPC, SFTP2, SMDP2"	178620	"Surfactant metabolism dysfunction, pulmonary, 2, 610913 (3)"	610913	11207353
ENSG00000168487	"BMP1, OI13"	112264	"Osteogenesis imperfecta, type XIII, 614856 (3)"	614856	22052668
ENSG00000168509	HFE2	608374	"Hemochromatosis, type 2A, 602390 (3)"	602390	14647275
ENSG00000168538	"TRAPPC11, C4orf41, LGMD2S"	614138	"Muscular dystrophy, limb-girdle, type 2S, 615356 (3)"	615356	23830518
ENSG00000168542	COL3A1	120180	"Ehlers-Danlos syndrome, type IV, 130050 (3)"	130050	3337712
ENSG00000168575	SLC20A2	158378	"Basal ganglia calcification, idiopathic, 1, 213600 (3)"	213600	22327515
ENSG00000168610	STAT3	102582	"Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3)"	615952	25038750
ENSG00000168610	STAT3	102582	"Hyper-IgE recurrent infection syndrome, 147060 (3)"	147060	17676033
ENSG00000168615	ADAM9	602713	"Cone-rod dystrophy 9, 612775 (3)"	612775	19409519
ENSG00000168621	GDNF	600837	"Central hypoventilation syndrome, 209880 (3)"	209880	12640453
ENSG00000168646	"AXIN2, ODCRCS"	604025	"Oligodontia-colorectal cancer syndrome, 608615 (3)"	608615	15042511
ENSG00000168658	VWA3B	614884	"?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)"	616948	26157035
ENSG00000168685	"IL7R, IL7RA, CD127"	146661	"Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)"	608971	9843216
ENSG00000168778	TCTN2	613846	"?Meckel syndrome 8, 613885 (3)"	613885	21462283
ENSG00000168778	TCTN2	613846	"Joubert syndrome 24, 616654 (3)"	616654	21565611
ENSG00000168827	GFM1	606639	"Combined oxidative phosphorylation deficiency 1, 609060 (3)"	609060	15537906
ENSG00000168878	"SFTPB, SFTB3, SMDP1"	178640	"Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)"	265120	8163685
ENSG00000168944	"CEP120, CCDC100, SRTD13"	613446	"Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)"	616300	25361962
ENSG00000168955	"TM4SF20, SLI5"	615404	"{Specific language impairment 5}, 615432 (3)"	615432	23810381
ENSG00000168958	MFF	614785	"Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)"	617086	22499341
ENSG00000169031	COL4A3	120070	"Alport syndrome, autosomal dominant, 104200 (3)"	104200	11044206
ENSG00000169032	MAP2K1	176872	"Cardiofaciocutaneous syndrome 3, 615279 (3)"	615279	16439621
ENSG00000169057	MECP2	300005	"Encephalopathy, neonatal severe, 300673 (3)"	300673	10577905
ENSG00000169057	"MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16"	300005	"Mental retardation, X-linked syndromic, Lubs type, 300260 (3)"	300260	15689435
ENSG00000169057	"MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16"	300005	"Mental retardation, X-linked, syndromic 13, 300055 (3)"	300055	10986043
ENSG00000169057	MECP2	300005	"Rett syndrome, 312750 (3)"	312750	10508514
ENSG00000169057	"MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16"	300005	"Rett syndrome, atypical, 312750 (3)"	312750	10508514
ENSG00000169057	"MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13, MRX79, MRX16"	300005	"Rett syndrome, preserved speech variant, 312750 (3)"	312750	10508514
ENSG00000169071	ROR2	602337	"Brachydactyly, type B1, 113000 (3)"	113000	10700182
ENSG00000169071	"ROR2, BDB1, BDB, NTRKR2"	602337	"Robinow syndrome, autosomal recessive, 268310 (3)"	268310	10932186
ENSG00000169083	AR	313700	"Androgen insensitivity, 300068 (3)"	300068	7937057
ENSG00000169083	AR	313700	"Androgen insensitivity, partial, with or without breast cancer, 312300 (3)"	312300	1598912
ENSG00000169083	"AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1"	313700	"Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)"	313200	2062380
ENSG00000169105	CHST14	608429	"Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)"	601776	20004762
ENSG00000169126	ARMC4	615408	"Ciliary dyskinesia, primary, 23, 615451 (3)"	615451	23849778
ENSG00000169169	CPT1C	608846	"?Spastic paraplegia 73, autosomal dominant, 616282 (3)"	616282	25751282
ENSG00000169174	PCSK9	607786	"Hypercholesterolemia, familial, 3, 603776 (3)"	603776	12730697
ENSG00000169184	"MN1, MGCR"	156100	"Meningioma, 607174 (3)"	607174	
ENSG00000169218	"RSPO1, FLJ40906"	609595	"Palmoplantar hyperkeratosis and true hermaphroditism, 610644 (3)"	610644	17041600
ENSG00000169218	"RSPO1, FLJ40906"	609595	"Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644 (3)"	610644	17072299
ENSG00000169247	SH3TC2	608206	"Charcot-Marie-Tooth disease, type 4C, 601596 (3)"	601596	14574644
ENSG00000169271	HSPB3	604624	"?Neuronopathy, distal hereditary motor, type IIC, 613376 (3)"	613376	20142617
ENSG00000169297	NR0B1	300473	"46XY sex reversal 2, dosage-sensitive, 300018 (3)"	300018	7951319
ENSG00000169297	NR0B1	300473	"Adrenal hypoplasia, congenital, 300200 (3)"	300200	7990958
ENSG00000169306	"IL1RAPL1, IL1R8, MRX21, MRX34"	300206	"Mental retardation, X-linked 21/34, 300143 (3)"	300143	10471494
ENSG00000169313	P2RY12	600515	"Bleeding disorder, platelet-type, 8, 609821 (3)"	609821	11196645
ENSG00000169344	UMOD	191845	"Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3)"	609886	14570709
ENSG00000169344	UMOD	191845	"Hyperuricemic nephropathy, familial juvenile 1, 162000 (3)"	162000	12471200
ENSG00000169344	"UMOD, HNFJ1, FJHN, MCKD2, ADMCKD2"	191845	"Medullary cystic kidney disease 2, 603860 (3)"	603860	12471200
ENSG00000169359	SLC33A1	603690	"Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)"	614482	22243965
ENSG00000169359	"SLC33A1, ACATN, AT1, SPG42, CCHLND"	603690	"Spastic paraplegia 42, autosomal dominant, 612539 (3)"	612539	19061983
ENSG00000169372	"CRADD, RAIDD, MRT34"	603454	"Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3)"	614499	22279524
ENSG00000169375	"SIN3A, WITKOS"	607776	"Witteveen-Kolk syndrome, 613406 (3)"	613406	27399968
ENSG00000169379	ARL13B	608922	"Joubert syndrome 8, 612291 (3)"	612291	18674751
ENSG00000169427	KCNK9	605874	"Birk-Barel mental retardation dysmorphism syndrome, 612292 (3)"	612292	18678320
ENSG00000169432	SCN9A	603415	"Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)"	613863	19763161
ENSG00000169432	SCN9A	603415	"Erythermalgia, primary, 133020 (3)"	133020	14985375
ENSG00000169432	SCN9A	603415	"Febrile seizures, familial, 3B, 613863 (3)"	613863	19763161
ENSG00000169432	SCN9A	603415	"HSAN2D, autosomal recessive, 243000 (3)"	243000	23596073
ENSG00000169432	"SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D"	603415	"Paroxysmal extreme pain disorder, 167400, (3)"	167400	17145499
ENSG00000169432	"SCN9A, NENA, PN1, FEB3B, GEFSP7, SFNP, HSAN2D"	603415	"Small fiber neuropathy, 133020 (3)"	133020	14985375
ENSG00000169515	CCDC8	614145	"3-M syndrome 3, 614205 (3)"	614205	21737058
ENSG00000169554	"ZEB2, ZFHX1B, SMADIP1, SIP1"	605802	"Mowat-Wilson syndrome, 235730 (3)"	235730	11279515
ENSG00000169562	GJB1	304040	"Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3)"	302800	8266101
ENSG00000169567	"HINT1, PRKCNH1, NMAN"	601314	"Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)"	137200	22961002
ENSG00000169599	"NFU1, HIRIP, MMDS1"	608100	"Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)"	605711	21944046
ENSG00000169604	ANTXR1	606410	"GAPO syndrome, 230740 (3)"	230740	23602711
ENSG00000169607	CKAP2L	616174	"Filippi syndrome, 272440 (3)"	272440	25439729
ENSG00000169692	"AGPAT2, LPAAB, BSCL, BSCL1"	603100	"Lipodystrophy, congenital generalized, type 1, 608594 (3)"	608594	11967537
ENSG00000169696	ASPSCR1	606236	"Alveolar soft-part sarcoma, 606243 (3)"	606243	11244503
ENSG00000169704	GP9	173515	"Bernard-Soulier syndrome, type C, 231200 (3)"	231200	2308962
ENSG00000169714	"ZNF9, CNBP1, DM2, PROMM"	116955	"Myotonic dystrophy 2, 602668 (3)"	602668	11486088
ENSG00000169738	DCXR	608347	"[Pentosuria], 260800 (3)"	260800	22042873
ENSG00000169762	"TAPT1, CMVFR, OCLSBG"	612758	"Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)"	616897	26365339
ENSG00000169814	BTD	609019	"Biotinidase deficiency, 253260 (3)"	253260	7550325
ENSG00000169836	TACR3	162332	"Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3)"	614840	19079066
ENSG00000169884	"WNT10B, SHFM6, STHAG8"	601906	"Split-hand/foot malformation 6, 225300 (3)"	225300	18515319
ENSG00000169884	"WNT10B, SHFM6, STHAG8"	601906	"Tooth agenesis, selective, 8, 617073 (3)"	617073	27321946
ENSG00000169919	"GUSB, MPS7"	611499	"Mucopolysaccharidosis VII, 253220 (3)"	253220	1702266
ENSG00000169933	"FRMPD4, PRESO, KIAA0316, MRX104"	300838	"Mental retardation, X-linked 104, 300983 (3)"	300983	25644381
ENSG00000169946	ZFPM2	603693	"46XY sex reversal 9, 616067 (3)"	616067	24549039
ENSG00000169946	ZFPM2	603693	"Diaphragmatic hernia 3, 610187 (3)"	610187	16103912
ENSG00000169946	"ZFPM2, FOG2, DIH3, SRXY9"	603693	"Tetralogy of Fallot, 187500 (3)"	187500	14517948
ENSG00000170099	SERPINA6	122500	"Corticosteroid-binding globulin deficiency, 611489 (3)"	611489	7061486
ENSG00000170113	"NIPA1, SPG6"	608145	"Spastic paraplegia 6, autosomal dominant, 600363 (3)"	600363	14508710
ENSG00000170175	CHRNB1	100710	"?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 (3)"	616314	10562302
ENSG00000170175	"CHRNB1, ACHRB, SCCMS, CMS2A, CMS2C"	100710	"Myasthenic syndrome, congenital, 2A, slow-channel, 616313 (3)"	616313	8872460
ENSG00000170262	MRAP	609196	"Glucocorticoid deficiency 2, 607398 (3)"	607398	15654338
ENSG00000170264	"FAM161A, RP28"	613596	"Retinitis pigmentosa 28, 606068 (3)"	606068	20705278
ENSG00000170266	GLB1	611458	"GM1-gangliosidosis, type I, 230500 (3)"	230500	"1909089, 1907800"
ENSG00000170266	GLB1	611458	"GM1-gangliosidosis, type II, 230600 (3)"	230600	"1909089, 1907800"
ENSG00000170266	GLB1	611458	"GM1-gangliosidosis, type III, 230650 (3)"	230650	"1909089, 1907800"
ENSG00000170266	"GLB1, MPS4B"	611458	"Mucopolysaccharidosis type IVB (Morquio), 253010 (3)"	253010	1928092
ENSG00000170275	"CRTAP, CASP, OI7"	605497	"Osteogenesis imperfecta, type VII, 610682 (3)"	610682	17055431
ENSG00000170289	CNGB3	605080	"Achromatopsia 3, 262300 (3)"	262300	10888875
ENSG00000170289	"CNGB3, ACHM3, ACHM1"	605080	"Macular degeneration, juvenile, 248200 (3)"	248200	15712225
ENSG00000170315	UBB	191339	"Cleft palate, isolated, 119540 (2)"	119540	8105683
ENSG00000170370	EMX2	600035	"Schizencephaly, 269160 (3)"	269160	8528262
ENSG00000170374	SP7	606633	"?Osteogenesis imperfecta, type XII, 613849 (3)"	613849	20579626
ENSG00000170442	"KRT86, KRTHB6, HB6"	601928	"Monilethrix, 158000 (3)"	158000	25557232
ENSG00000170445	HARS	142810	"Charcot-Marie-Tooth disease, axonal, type 2W, 616625 (3)"	616625	22930593
ENSG00000170445	"HARS, USH3B, CMT2W"	142810	"Usher syndrome type 3B, 614504 (3)"	614504	22279524
ENSG00000170465	"KRT6C, PPKNEFD"	612315	"Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)"	615735	19609311
ENSG00000170477	"KRT4, CYK4, WSN1"	123940	"White sponge nevus 1, 193900 (3)"	193900	7493030
ENSG00000170484	KRT74	608248	"?Ectodermal dysplasia 7, hair/nail type, 614929 (3)"	614929	24714551
ENSG00000170484	KRT74	608248	"?Hypotrichosis 3, 613981 (3)"	613981	21188418
ENSG00000170484	"KRT74, K6IRS4, KRT6IRS4, HTSS2, HYPT3, ADWH"	608248	"Woolly hair, autosomal dominant, 194300 (3)"	194300	20346438
ENSG00000170498	KISS1	603286	"?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)"	614842	22335740
ENSG00000170540	ARL6IP1	607669	"?Spastic paraplegia 61, autosomal recessive, 615685 (3)"	615685	24482476
ENSG00000170581	STAT2	600556	"Immunodeficiency 44, 616636 (3)"	616636	23391734
ENSG00000170615	SLC26A5	604943	"?Deafness, autosomal recessive 61, 613865 (3)"	613865	12719379
ENSG00000170624	SGCD	601411	"Cardiomyopathy, dilated, 1L, 606685 (3)"	606685	10974018
ENSG00000170624	"SGCD, SGD, LGMD2F, CMD1L"	601411	"Muscular dystrophy, limb-girdle, type 2F, 601287 (3)"	601287	8841194
ENSG00000170734	"POLH, XPV"	603968	"Xeroderma pigmentosum, variant type, 278750 (3)"	278750	10385124
ENSG00000170819	BFSP2	603212	"Cataract 12, multiple types, 611597 (3)"	611597	"10739768, 10729115"
ENSG00000170820	"FSHR, ODG1"	136435	"Ovarian dysgenesis 1, 233300 (3)"	233300	7553856
ENSG00000170820	"FSHR, ODG1"	136435	"Ovarian hyperstimulation syndrome, 608115 (3)"	608115	12930927
ENSG00000170820	"FSHR, ODG1"	136435	"Ovarian response to FSH stimulation, 276400 (3)"	276400	11101833
ENSG00000170835	"CEL, BSSL, CELL, MODY8"	114840	"Maturity-onset diabetes of the young, type VIII, 609812 (3)"	609812	16369531
ENSG00000170876	TMEM43	612048	"Arrhythmogenic right ventricular dysplasia 5, 604400 (3)"	604400	18313022
ENSG00000170876	TMEM43	612048	"Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3)"	614302	21391237
ENSG00000170881	"RNF139, TRC8, RCA1"	603046	"Renal cell carcinoma, 144700 (3)"	144700	7690964
ENSG00000170892	TSEN34	608754	"?Pontocerebellar hypoplasia type 2C, 612390 (3)"	612390	18711368
ENSG00000170927	"FCYT, PKHD1, ARPKD"	606702	"Polycystic kidney and hepatic disease, 263200 (3)"	263200	11919560
ENSG00000171100	"MTM1, MTMX"	300415	"Myotubular myopathy, X-linked, 310400 (3)"	310400	8640223
ENSG00000171105	INSR	147670	"Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)"	610549	2544998
ENSG00000171105	INSR	147670	"Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)"	609968	15161766
ENSG00000171105	"INSR, HHF5"	147670	"Leprechaunism, 246200 (3)"	246200	8105179
ENSG00000171105	"INSR, HHF5"	147670	"Rabson-Mendenhall syndrome, 262190 (3)"	262190	2121734
ENSG00000171135	"JAGN1, SCN6"	616012	"Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)"	616022	25129144
ENSG00000171202	"TMEM126A, OPA7"	612988	"Optic atrophy 7, 612989 (3)"	612989	19327736
ENSG00000171204	TMEM126B	615533	"Mitochondrial complex I deficiency, 252010 (3)"	252010	27374773
ENSG00000171298	GAA	606800	"Glycogen storage disease II, 232300 (3)"	232300	2203258
ENSG00000171302	CANT1	613165	"Desbuquois dysplasia 1, 251450 (3)"	251450	19853239
ENSG00000171303	"KCNK3, TASK, PPH4"	603220	"Pulmonary hypertension, primary, 4, 615344 (3)"	615344	23883380
ENSG00000171316	CHD7	608892	"CHARGE syndrome, 214800 (3)"	214800	15300250
ENSG00000171316	CHD7	608892	"Hypogonadotropic hypogonadism 5 with or without anosmia, 612370 (3)"	612370	18834967
ENSG00000171320	ESCO2	609353	"Roberts syndrome, 268300 (3)"	268300	15821733
ENSG00000171320	ESCO2	609353	"SC phocomelia syndrome, 269000 (3)"	269000	16380922
ENSG00000171365	CLCN5	300008	"Dent disease, 300009 (3)"	300009	8559248
ENSG00000171365	CLCN5	300008	"Hypophosphatemic rickets, 300554 (3)"	300554	8559248
ENSG00000171365	"CLCN5, CLCK2, NPHL2, DENTS, NPHL1"	300008	"Nephrolithiasis, type I, 310468 (3)"	310468	8559248
ENSG00000171365	"CLCN5, CLCK2, NPHL2, DENTS, NPHL1"	300008	"Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 (3)"	308990	9062355
ENSG00000171385	KCND3	605411	"Brugada syndrome 9, 616399 (3)"	616399	21349352
ENSG00000171385	"KCND3, KCND3S, KCND3L, SCA19, SCA22, BRGDA9"	605411	"Spinocerebellar ataxia 19, 607346 (3)"	607346	23280837
ENSG00000171401	"KRT13, WSN2"	148065	"White sponge nevus 2, 615785 (3)"	615785	7493031
ENSG00000171403	"KRT9, EPPK"	607606	"Palmoplantar keratoderma, epidermolytic, 144200 (3)"	144200	7512862
ENSG00000171453	"POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11"	610060	"Leukodystrophy, hypomyelinating, 11, 616494 (3)"	616494	26151409
ENSG00000171453	"POLR1C, RPA39, RPA40, RPAC1, RPA5, TCS3, HLD11"	610060	"Treacher Collins syndrome 3, 248390 (3)"	248390	21131976
ENSG00000171456	ASXL1	612990	"Bohring-Opitz syndrome, 605039 (3)"	605039	21706002
ENSG00000171551	ECEL1	605896	"Arthrogryposis, distal, type 5D, 615065 (3)"	615065	23261301
ENSG00000171595	DNAI2	605483	"Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)"	612444	18950741
ENSG00000171608	PIK3CD	602839	"Immunodeficiency 14, 615513 (3)"	615513	16984281
ENSG00000171680	PLEKHG5	611101	"Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)"	615376	23777631
ENSG00000171680	"PLEKHG5, KIAA0720, DSMA4, CMTRIC"	611101	"Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)"	611067	17564964
ENSG00000171714	ANO5	608662	"Gnathodiaphyseal dysplasia, 166260 (3)"	166260	15124103
ENSG00000171714	"ANO5, TMEM16E, GDD1, LGMD2L"	608662	"Miyoshi muscular dystrophy 3, 613319 (3)"	613319	20096397
ENSG00000171714	"ANO5, TMEM16E, GDD1, LGMD2L"	608662	"Muscular dystrophy, limb-girdle, type 2L, 611307 (3)"	611307	20096397
ENSG00000171723	"GPHN, GPH, KIAA1385, GEPH, MOCODC"	603930	"Molybdenum cofactor deficiency C, 615501 (3)"	615501	11095995
ENSG00000171735	CAMTA1	611501	"Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)"	614756	22693284
ENSG00000171759	PAH	612349	"[Hyperphenylalaninemia, non-PKU mild], 261600 (3)"	261600	3008810
ENSG00000171759	"PAH, PKU1"	612349	"Phenylketonuria, 261600 (3)"	261600	3008810
ENSG00000171766	GATM	602360	"Cerebral creatine deficiency syndrome 3, 612718 (3)"	612718	11555793
ENSG00000171772	SYCE1	611486	"?Premature ovarian failure 12, 616947 (3)"	616947	25062452
ENSG00000171772	SYCE1	611486	"?Spermatogenic failure 15, 616950 (3)"	616950	25899990
ENSG00000171793	CTPS1	123860	"Immunodeficiency 24, 615897 (3)"	615897	24870241
ENSG00000171812	COL8A2	120252	"Corneal dystrophy, posterior polymorphous 2, 609140 (3)"	609140	11689488
ENSG00000171862	PTEN	601728	"Bannayan-Riley-Ruvalcaba syndrome, 153480 (3)"	153480	9241266
ENSG00000171862	PTEN	601728	"Cowden syndrome 1, 158350 (3)"	158350	9140396
ENSG00000171862	"PTEN, MMAC1, GLM2, CWS1"	601728	"Lhermitte-Duclos syndrome, 158350 (3)"	158350	9140396
ENSG00000171862	"PTEN, MMAC1, GLM2, CWS1"	601728	"Macrocephaly/autism syndrome, 605309 (3)"	605309	15805158
ENSG00000171862	"PTEN, MMAC1, GLM2, CWS1"	601728	"VATER association with macrocephaly and ventriculomegaly, 276950 (3)"	276950	11748304
ENSG00000171863	RPS7	603658	"Diamond-Blackfan anemia 8, 612563 (3)"	612563	19061985
ENSG00000171865	"RNASEH1, PEOB2"	604123	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)"	616479	26094573
ENSG00000171867	PRNP	176640	"Cerebral amyloid angiopathy, PRNP-related, 137440 (3)"	137440	2564168
ENSG00000171867	PRNP	176640	"Creutzfeldt-Jakob disease, 123400 (3)"	123400	2563037
ENSG00000171867	PRNP	176640	"Gerstmann-Straussler disease, 137440 (3)"	137440	8698234
ENSG00000171867	PRNP	176640	"Huntington disease-like 1, 603218 (3)"	603218	10581230
ENSG00000171867	PRNP	176640	"Insomnia, fatal familial, 600072 (3)"	600072	1439789
ENSG00000171867	"PRNP, PRIP, KURU, CJD"	176640	"Prion disease with protracted course, 606688 (3)"	606688	9266722
ENSG00000171953	"ATPAF2, ATP12, MC5DN1"	608918	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)"	604273	14757859
ENSG00000171954	CYP4F22	611495	"Ichthyosis, congenital, autosomal recessive 5, 604777 (3)"	604777	16436457
ENSG00000172007	"RAB33B, SMC2"	605950	"Smith-McCort dysplasia 2, 615222 (3)"	615222	22652534
ENSG00000172037	"LAMB2, LAMS, NPHS5"	150325	"Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)"	614199	16912710
ENSG00000172037	"LAMB2, LAMS, NPHS5"	150325	"Pierson syndrome, 609049 (3)"	609049	15367484
ENSG00000172053	"QARS, GLNRS, MSCCA"	603727	"Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)"	615760	24656866
ENSG00000172059	"KLF11, TIEG2, FKLF1, FKLF, MODY7"	603301	"Maturity-onset diabetes of the young, type VII, 610508 (3)"	610508	15774581
ENSG00000172071	"EIF2AK3, PEK, PERK, WRS"	604032	"Wolcott-Rallison syndrome, 226980 (3)"	226980	10932183
ENSG00000172115	"CYCS, CYC, THC4"	123970	"Thrombocytopenia 4, 612004 (3)"	612004	18345000
ENSG00000172175	MALT1	604860	"Immunodeficiency 12, 615468 (3)"	615468	23727036
ENSG00000172243	CLEC7A	606264	"Candidiasis, familial, 4, autosomal recessive, 613108 (3)"	613108	19864674
ENSG00000172269	DPAGT1	191350	"Congenital disorder of glycosylation, type Ij, 608093 (3)"	608093	12872255
ENSG00000172269	"DPAGT1, DPAGT2, DGPT, CDG1J, CMSTA2, CMS13"	191350	"Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)"	614750	22742743
ENSG00000172331	BPGM	613896	"Erythrocytosis due to bisphosphoglycerate mutase deficiency, 222800 (3)"	222800	2542247
ENSG00000172339	ALG14	612866	"?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 (3)"	616227	23404334
ENSG00000172361	CFAP53	614759	"Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)"	614779	22577226
ENSG00000172379	ARNT2	606036	"?Webb-Dattani syndrome, 615926 (3)"	615926	24022475
ENSG00000172409	"CLP1, HEAB, PCH10"	608757	"Pontocerebellar hypoplasia, type 10, 615803 (3)"	615803	"24766809, 24766810"
ENSG00000172426	RSPH9	612648	"Ciliary dyskinesia, primary, 12, 612650 (3)"	612650	19200523
ENSG00000172482	AGXT	604285	"Hyperoxaluria, primary, type 1, 259900 (3)"	259900	"1703535, 2039493"
ENSG00000172500	"FIBP, TROFAS"	608296	"Thauvin-Robinet-Faivre syndrome, 617107 (3)"	617107	26660953
ENSG00000172534	"HCFC1, HCF1, MRX3"	300019	"Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)"	309541	23000143
ENSG00000172548	NIPAL4	609383	"Ichthyosis, congenital, autosomal recessive 6, 612281 (3)"	612281	15317751
ENSG00000172572	PDE3A	123805	"Hypertension and brachydactyly syndrome, 112410 (3)"	112410	18086950
ENSG00000172638	EFEMP2	604633	"Cutis laxa, autosomal recessive, type IB, 614437 (3)"	614437	16685658
ENSG00000172817	CYP7B1	603711	"Bile acid synthesis defect, congenital, 3, 613812 (3)"	613812	9802883
ENSG00000172817	"CYP7B1, CBAS3, SPG5A"	603711	"Spastic paraplegia 5A, autosomal recessive, 270800 (3)"	270800	18252231
ENSG00000172867	KRT2	600194	"Ichthyosis bullosa of Siemens, 146800 (3)"	146800	7524919
ENSG00000172893	"DHCR7, SLOS"	602858	"Smith-Lemli-Opitz syndrome, 270400 (3)"	270400	"9634533, 9653161"
ENSG00000172922	RNASEH2C	610330	"Aicardi-Goutieres syndrome 3, 610329 (3)"	610329	16845400
ENSG00000172936	"MYD88, MYD88D"	602170	"Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)"	612260	18669862
ENSG00000172943	"PHF8, ZNF422, KIAA1111, MRXSSD"	300560	"Mental retardation syndrome, X-linked, Siderius type, 300263 (3)"	300263	16199551
ENSG00000172987	"HPSE2, HPA2, UFS1"	613469	"Urofacial syndrome 1, 236730 (3)"	236730	20560209
ENSG00000173040	"EVC2, LBN, WAD"	607261	"Weyers acrofacial dysostosis, 193530 (3)"	193530	16404586
ENSG00000173085	COQ2	609825	"Coenzyme Q10 deficiency, primary, 1, 607426 (3)"	607426	16400613
ENSG00000173175	ADCY5	600293	"Dyskinesia, familial, with facial myokymia, 606703 (3)"	606703	22782511
ENSG00000173218	VANGL1	610132	"Caudal regression syndrome, 600145 (3)"	600145	17409324
ENSG00000173226	"IQCB1, NPHP5, KIAA0036"	609237	"Senior-Loken syndrome 5, 609254 (3)"	609254	15723066
ENSG00000173402	"DAG1, DAG, MDDGC9, MDDGA9"	128239	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, 616538 (3)"	616538	24052401
ENSG00000173402	"DAG1, DAG, MDDGC9, MDDGA9"	128239	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818 (3)"	613818	21388311
ENSG00000173409	ARV1	611647	"Epileptic encephalopathy, early infantile, 38, 617020 (3)"	617020	25558065
ENSG00000173540	"GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14"	615320	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14, 615350 (3)"	615350	23768512
ENSG00000173540	"GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14"	615320	"Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14, 615351 (3)"	615351	23768512
ENSG00000173540	"GMPPB, KIAA1851, MDDGA14, MDDGB14, MDDGC14"	615320	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)"	615352	23768512
ENSG00000173575	CHD2	602119	"Epileptic encephalopathy, childhood-onset, 615369 (3)"	615369	23020937
ENSG00000173588	"CEP83, CCDC41, NPHP18"	615847	"Nephronophthisis 18, 615862 (3)"	615862	24882706
ENSG00000173599	PC	608786	"Pyruvate carboxylase deficiency, 266150 (3)"	266150	9585612
ENSG00000173614	"NMNAT1, NMNAT, PNAT1, LCA9"	608700	"Leber congenital amaurosis 9, 608553 (3)"	608553	22842230
ENSG00000173698	"ADGRG2, GPR64, HE6, CBAVDX"	300572	"Vas deferens, congenital bilateral aplasia of, X-linked, 300985 (3)"	300985	27476656
ENSG00000173757	STAT5B	604260	"Growth hormone insensitivity with immunodeficiency, 245590 (3)"	245590	8977385
ENSG00000173801	JUP	173325	"Arrhythmogenic right ventricular dysplasia 12, 611528 (3)"	611528	17924338
ENSG00000173801	"JUP, DP3, PDGB, ARVD12"	173325	"Naxos disease, 601214 (3)"	601214	10902626
ENSG00000173894	CBX2	602770	"?46XY sex reversal 5, 613080 (3)"	613080	19361780
ENSG00000173898	"SPTBN2, SCA5, SCAR14"	604985	"Spinocerebellar ataxia 5, 600224 (3)"	600224	16429157
ENSG00000173898	"SPTBN2, SCA5, SCAR14"	604985	"Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)"	615386	23236289
ENSG00000173976	RAX2	610362	"?Macular degeneration, age-related, 6, 613757 (3)"	613757	15028672
ENSG00000173976	RAX2	610362	"Cone-rod dystrophy 11, 610381 (3)"	610381	15028672
ENSG00000173991	"TCAP, LGMD2G, CMH25"	604488	"Muscular dystrophy, limb-girdle, type 2G, 601954 (3)"	601954	10655062
ENSG00000174007	"CEP19, C3orf34, MOSPGF"	615586	"Morbid obesity and spermatogenic failure, 615703 (3)"	615703	24268657
ENSG00000174010	"KLHL15, KIAA1677"	300980	"Mental retardation, X-linked 103, 300982 (3)"	300982	24817631
ENSG00000174080	CTSF	603539	"Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)"	615362	23297359
ENSG00000174099	MSRB3	613719	"Deafness, autosomal recessive 74, 613718 (3)"	613718	21185009
ENSG00000174106	LEMD3	607844	"Buschke-Ollendorff syndrome, 166700 (3)"	166700	15489854
ENSG00000174106	"LEMD3, MAN1"	607844	"Osteopoikilosis, 166700 (3)"	166700	15489854
ENSG00000174173	TRMT10C	615423	"Combined oxidative phosphorylation deficiency 30, 616974 (3)"	616974	27132592
ENSG00000174227	"PIGG, GPI7, MRT53"	616918	"Mental retardation, autosomal recessive 53, 616917 (3)"	616917	26996948
ENSG00000174233	ADCY6	600294	"?Lethal congenital contracture syndrome 8, 616287 (3)"	616287	24319099
ENSG00000174358	SLC6A19	608893	"Hartnup disorder, 234500 (3)"	234500	15286787
ENSG00000174405	"LIG4, LIG4S"	601837	"LIG4 syndrome, 606593 (3)"	606593	11779494
ENSG00000174437	ATP2A2	108740	"Acrokeratosis verruciformis, 101900 (3)"	101900	12542527
ENSG00000174437	ATP2A2	108740	"Darier disease, 124200 (3)"	124200	10441323
ENSG00000174469	CNTNAP2	604569	"Cortical dysplasia-focal epilepsy syndrome, 610042 (3)"	610042	16571880
ENSG00000174483	BBS1	209901	"Bardet-Biedl syndrome 1, 209900 (3)"	209900	20177705
ENSG00000174611	"KY, MFM7"	605739	"Myopathy, myofibrillar, 7, 617114 (3)"	617114	27484770
ENSG00000174640	SLCO2A1	601460	"Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)"	614441	22197487
ENSG00000174684	"B3GNT1, IGNT, IGAT, MDDGA13"	605517	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3)"	615287	23359570
ENSG00000174697	"LEP, OB, LEPD"	164160	"Obesity, morbid, due to leptin deficiency, 614962 (3)"	614962	9202122
ENSG00000174705	SH3PXD2B	613293	"Frank-ter Haar syndrome, 249420 (3)"	249420	20137777
ENSG00000174720	LARP7	612026	"Alazami syndrome, 615071 (3)"	615071	22865833
ENSG00000174748	RPL15	604174	"?Diamond-Blackfan anemia 12, 615550 (3)"	615550	23812780
ENSG00000174775	HRAS	190020	"Congenital myopathy with excess of muscle spindles, 218040 (3)"	218040	16170316
ENSG00000174775	HRAS	190020	"Costello syndrome, 218040 (3)"	218040	16170316
ENSG00000174780	SRP72	602122	"Bone marrow failure syndrome 1, 614675 (3)"	614675	22541560
ENSG00000174792	C4orf26	614829	"Amelogenesis imperfecta, type IIA4, 614832 (3)"	614832	22901946
ENSG00000174799	CEP135	611423	"?Microcephaly 8, primary, autosomal recessive, 614673 (3)"	614673	22521416
ENSG00000174804	FZD4	604579	"Exudative vitreoretinopathy 1, 133780 (3)"	133780	12172548
ENSG00000174804	"FZD4, EVR1"	604579	"Retinopathy of prematurity, 133780 (3)"	133780	15733276
ENSG00000174842	GLMN	601749	"Glomuvenous malformations, 138000 (3)"	138000	11845407
ENSG00000174886	NDUFA11	612638	"Mitochondrial complex I deficiency, 252010 (3)"	252010	18306244
ENSG00000174951	FUT1	211100	"[Bombay phenotype], 616754 (3)"	616754	7912436
ENSG00000174990	CA5A	114761	"Hyperammonemia due to carbonic anhydrase VA deficiency, 615751 (3)"	615751	24530203
ENSG00000174996	"KLC2, SPOAN"	611729	"Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)"	609541	26385635
ENSG00000175054	ATR	601215	"?Cutaneous telangiectasia and cancer syndrome, familial, 614564 (3)"	614564	22341969
ENSG00000175054	"ATR, FRP1, SCKL1, FCTCS"	601215	"Seckel syndrome 1, 210600 (3)"	210600	12640452
ENSG00000175065	DSG4	607892	"Hypotrichosis 6, 607903 (3)"	607903	12705872
ENSG00000175084	DES	125660	"?Muscular dystrophy, limb-girdle, type 2R, 615325 (3)"	615325	23687351
ENSG00000175084	DES	125660	"Cardiomyopathy, dilated, 1I, 604765 (3)"	604765	10430757
ENSG00000175084	"DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R"	125660	"Myopathy, myofibrillar, 1, 601419 (3)"	601419	9697706
ENSG00000175084	"DES, CMD1I, MFM1, SCPNK, ARVD7, ARVC7, LGMD2R"	125660	"Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)"	181400	17439987
ENSG00000175097	RAG2	179616	"Omenn syndrome, 603554 (3)"	603554	11313270
ENSG00000175097	RAG2	179616	"Severe combined immunodeficiency, B cell-negative, 601457 (3)"	601457	15025726
ENSG00000175110	MRPS22	605810	"Combined oxidative phosphorylation deficiency 5, 611719 (3)"	611719	17873122
ENSG00000175115	"PACS1, SHMS, MRD17"	607492	"Schuurs-Hoeijmakers syndrome, 615009 (3)"	615009	23159249
ENSG00000175197	"DDIT3, GADD153, CHOP10"	126337	"Myxoid liposarcoma, 613488 (1)"	613488	8913727
ENSG00000175198	PCCA	232000	"Propionicacidemia, 606054 (3)"	606054	3687944
ENSG00000175206	NPPA	108780	"Atrial fibrillation, familial, 6, 612201 (3)"	612201	18614783
ENSG00000175206	NPPA	108780	"Atrial standstill 2, 615745 (3)"	615745	23275345
ENSG00000175213	ZNF408	616454	"?Exudative vitreoretinopathy 6, 616468 (3)"	616468	23716654
ENSG00000175213	"ZNF408, EVR6, RP72"	616454	"Retinitis pigmentosa 72, 616469 (3)"	616469	25882705
ENSG00000175283	DOLK	610746	"Congenital disorder of glycosylation, type Im, 610768 (3)"	610768	17273964
ENSG00000175294	"CATSPER1, CATSPER, SPGF7"	606389	"Spermatogenic failure 7, 612997 (3)"	612997	19344877
ENSG00000175309	AGXT2L2	614683	"[?Phosphohydroxylysinuria], 615011 (3)"	615011	23242558
ENSG00000175334	"BANF1, BAF, NGPS"	603811	"Nestor-Guillermo progeria syndrome, 614008 (3)"	614008	21549337
ENSG00000175426	"PCSK1, NEC1, PC1, PC3, BMIQ12"	162150	"Obesity with impaired prohormone processing, 600955 (3)"	600955	9207799
ENSG00000175445	LPL	609708	"Combined hyperlipidemia, familial, 144250 (3)"	144250	1975179
ENSG00000175505	CLCF1	607672	"Cold-induced sweating syndrome 2, 610313 (3)"	610313	16782820
ENSG00000175535	"PNLIP, PNLIPD"	246600	"Pancreatic lipase deficiency, 614338 (1)"	614338	24262094
ENSG00000175538	KCNE3	604433	"Brugada syndrome 6, 613119 (3)"	613119	19122847
ENSG00000175544	CABP4	608965	"Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)"	610427	16960802
ENSG00000175595	ERCC4	133520	"?XFE progeroid syndrome, 610965 (3)"	610965	17183314
ENSG00000175595	ERCC4	133520	"Fanconi anemia, complementation group Q, 615272 (3)"	615272	23623386
ENSG00000175595	"ERCC4, XPF, FANCQ, XFEPS"	133520	"Xeroderma pigmentosum, group F, 278760 (3)"	278760	8797827
ENSG00000175595	"ERCC4, XPF, FANCQ, XFEPS"	133520	"Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3)"	278760	23623389
ENSG00000175600	SUGCT	609187	"Glutaric aciduria III, 231690 (3)"	231690	18926513
ENSG00000175606	"TMEM70, MC5DN2"	612418	"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)"	614052	18953340
ENSG00000175707	KDF1	616758	"?Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type, 617337 (3)"	617337	27838789
ENSG00000175745	NR2F1	132890	"Bosch-Boonstra-Schaaf optic atrophy syndrome, 615722 (3)"	615722	24462372
ENSG00000175894	TSPEAR	612920	"Deafness, autosomal recessive 98, 614861 (3)"	614861	22678063
ENSG00000175899	A2M	103950	"Alpha-2-macroglobulin deficiency, 614036 (1)"	614036	"94459, 2475424"
ENSG00000175920	"DOK7, C4orf25, CMS10"	610285	"Myasthenic syndrome, congenital, 10, 254300 (3)"	254300	16917026
ENSG00000176022	B3GALT6	615291	"Ehlers-Danlos syndrome, progeroid type, 2, 615349 (3)"	615349	23664117
ENSG00000176022	"B3GALT6, SEMDJL1, EDSP2"	615291	"Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)"	271640	23664117
ENSG00000176058	TPRN	613354	"Deafness, autosomal recessive 79, 613307 (3)"	613307	20170899
ENSG00000176165	FOXG1	164874	"Rett syndrome, congenital variant, 613454 (3)"	613454	18571142
ENSG00000176225	"RTTN, MSSP"	610436	"Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)"	614833	22939636
ENSG00000176387	HSD11B2	614232	"Apparent mineralocorticoid excess, 218030 (3)"	218030	7670488
ENSG00000176619	LMNB2	150341	"?Epilepsy, progressive myoclonic, 9, 616540 (3)"	616540	25954030
ENSG00000176692	"FOXC2, FKHL14, MFH1"	602402	"Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 (3)"	153400	11078474
ENSG00000176692	"FOXC2, FKHL14, MFH1"	602402	"Lymphedema-distichiasis syndrome, 153400 (3)"	153400	11078474
ENSG00000176715	ACSF3	614245	"Combined malonic and methylmalonic aciduria, 614265 (3)"	614265	21841779
ENSG00000176842	IRX5	606195	"Hamamy syndrome, 611174 (3)"	611174	22581230
ENSG00000176884	"GRIN1, NMDAR1, MRD8"	138249	"Mental retardation, autosomal dominant 8, 614254 (3)"	614254	21376300
ENSG00000176887	"SOX11, MRD27"	600898	"Mental retardation, autosomal dominant, 27, 615866 (3)"	615866	24886874
ENSG00000176915	ANKLE2	616062	"?Microcephaly 16, primary, autosomal recessive, 616681 (3)"	616681	25259927
ENSG00000177030	DEAF1	602635	"?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)"	617171	26048982
ENSG00000177030	"DEAF1, SPN, ZMYND5, MRD24"	602635	"Mental retardation, autosomal dominant 24, 615828 (3)"	615828	21076407
ENSG00000177045	SIX5	600963	"Branchiootorenal syndrome 2, 610896 (3)"	610896	17357085
ENSG00000177082	WDR73	616144	"Galloway-Mowat syndrome, 251300 (3)"	251300	25466283
ENSG00000177084	POLE	174762	"FILS syndrome, 615139 (3)"	615139	23230001
ENSG00000177098	SCN4B	608256	"Atrial fibrillation, familial, 17, 611819 (3)"	611819	23604097
ENSG00000177098	"SCN4B, LQT10, ATFB17"	608256	"Long QT syndrome-10, 611819 (3)"	611819	17592081
ENSG00000177119	"ANO6, TMEM16F, SCTS, BDPLT7"	608663	"Scott syndrome, 262890 (3)"	262890	21107324
ENSG00000177156	TALDO1	602063	"Transaldolase deficiency, 606003 (3)"	606003	11283793
ENSG00000177189	RPS6KA3	300075	"Coffin-Lowry syndrome, 303600 (3)"	303600	8955270
ENSG00000177189	"RPS6KA3, RSK2, MRX19"	300075	"Mental retardation, X-linked 19, 300844 (3)"	300844	10319851
ENSG00000177192	"PUS1, MLASA1"	608109	"Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)"	600462	15108122
ENSG00000177239	"MAN1B1, MRT15"	604346	"Mental retardation, autosomal recessive 15, 614202 (3)"	614202	21763484
ENSG00000177301	KCNA2	176262	"Epileptic encephalopathy, early infantile, 32, 616366 (3)"	616366	25477152
ENSG00000177409	SAMD9L	611170	"Ataxia-pancytopenia syndrome, 159550 (3)"	159550	27259050
ENSG00000177426	TGIF1	602630	"Holoprosencephaly 4, 142946 (3)"	142946	10835638
ENSG00000177455	CD19	107265	"Immunodeficiency, common variable, 3, 613493 (3)"	613493	16672701
ENSG00000177469	"PTRF, CAVIN, CGL4"	603198	"Lipodystrophy, congenital generalized, type 4, 613327 (3)"	613327	19726876
ENSG00000177542	SLC25A22	609302	"Epileptic encephalopathy, early infantile, 3, 609304 (3)"	609304	15592994
ENSG00000177565	"TBL1XR1, TBLR1, IRA1, C21, MRD41"	608628	"Mental retardation, autosomal dominant 41 , 616944 (3)"	616944	25102098
ENSG00000177565	"TBL1XR1, TBLR1, IRA1, C21, MRD41"	608628	"Pierpont syndrome, 602342 (3)"	602342	26769062
ENSG00000177628	GBA	606463	"Gaucher disease, perinatal lethal, 608013 (3)"	608013	8929950
ENSG00000177628	GBA	606463	"Gaucher disease, type I, 230800 (3)"	230800	3353383
ENSG00000177628	GBA	606463	"Gaucher disease, type II, 230900 (3)"	230900	2880291
ENSG00000177628	GBA	606463	"Gaucher disease, type III, 231000 (3)"	231000	8244344
ENSG00000177628	GBA	606463	"Gaucher disease, type IIIC, 231005 (3)"	231005	8544197
ENSG00000177646	ACAD9	611103	"Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)"	611126	21057504
ENSG00000177663	IL17RA	605461	"Immunodeficiency 51, 613953 (3)"	613953	21350122
ENSG00000177666	"PNPLA2, TTS2, ATGL"	609059	"Neutral lipid storage disease with myopathy, 610717 (3)"	610717	17187067
ENSG00000177697	"CD151, PETA3, SFA1, MER2"	602243	"Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)"	609057	15265795
ENSG00000177706	"FAM20C, DMP4"	611061	"Raine syndrome, 259775 (3)"	259775	17924334
ENSG00000177807	"KCNJ10, SESAME"	602208	"SESAME syndrome, 612780 (3)"	612780	19289823
ENSG00000177954	RPS27	603702	"?Diamond-Blackfan anemia 17, 617409 (3)"	617409	25424902
ENSG00000177990	"DPY19L2, SPGF9"	613893	"Spermatogenic failure 9, 613958 (3)"	613958	21397063
ENSG00000178057	NDUFAF3	612911	"Mitochondrial complex I deficiency, 252010 (3)"	252010	19463981
ENSG00000178127	NDUFV2	600532	"Mitochondrial complex I deficiency, 252010 (3)"	252010	12754703
ENSG00000178209	PLEC	601282	"?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3)"	616487	25712130
ENSG00000178209	PLEC	601282	"Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3)"	226670	8696340
ENSG00000178209	PLEC	601282	"Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)"	612138	14675180
ENSG00000178209	PLEC	601282	"Epidermolysis bullosa simplex, Ogna type, 131950 (3)"	131950	11851880
ENSG00000178209	"PLEC1, PLEC, PLTN, EBS1, LGMD2Q, EBSOG, EBSPA, EBSMD, EBSND"	601282	"Muscular dystrophy, limb-girdle, type 2Q, 613723 (3)"	613723	21109228
ENSG00000178235	SLITRK1	609678	"?Trichotillomania, 613229 (3)"	613229	16224024
ENSG00000178235	"SLITRK1, KIAA1910, TTM"	609678	"Tourette syndrome, 137580 (3)"	137580	16224024
ENSG00000178394	"HTR1A, ADRB2RL1, PFMCD"	109760	"Periodic fever, menstrual cycle dependent, 614674 (3)"	614674	21990073
ENSG00000178522	AMBN	601259	"Amelogenesis imperfecta, type IF, 616270 (3)"	616270	24858907
ENSG00000178537	SLC25A20	613698	"Carnitine-acylcarnitine translocase deficiency, 212138 (3)"	212138	9399886
ENSG00000178538	CA8	114815	"Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 (3)"	613227	19461874
ENSG00000178568	ERBB4	600543	"Amyotrophic lateral sclerosis 19, 615515 (3)"	615515	24119685
ENSG00000178573	MAF	177075	"Ayme-Gripp syndrome, 601088 (3)"	601088	25865493
ENSG00000178573	MAF	177075	"Cataract 21, multiple types, 610202 (3)"	610202	11772997
ENSG00000178726	"THBD, THRM, AHUS6, THPH12"	188040	"Thrombophilia due to thrombomodulin defect, 614486 (3)"	614486	7811989
ENSG00000178802	MPI	154550	"Congenital disorder of glycosylation, type Ib, 602579 (3)"	602579	9525984
ENSG00000178814	OPLAH	614243	"5-oxoprolinase deficiency, 260005 (3)"	260005	21651516
ENSG00000178919	FOXE1	602617	"Bamforth-Lazarus syndrome, 241850 (3)"	241850	9697705
ENSG00000178952	TUFM	602389	"Combined oxidative phosphorylation deficiency 4, 610678 (3)"	610678	17160893
ENSG00000178971	CTC1	613129	"Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)"	612199	22267198
ENSG00000179085	DPM3	605951	"Congenital disorder of glycosylation, type Io, 612937 (3)"	612937	19576565
ENSG00000179091	"CYC1, MC3DN6"	123980	"Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)"	615453	23910460
ENSG00000179111	"HES7, SCDO4"	608059	"Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)"	613686	18775957
ENSG00000179142	CYP11B2	124080	"Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)"	203400	8439335
ENSG00000179142	CYP11B2	124080	"Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)"	610600	1594605
ENSG00000179148	ALOXE3	607206	"Ichthyosis, congenital, autosomal recessive 3, 606545 (3)"	606545	11773004
ENSG00000179151	EDC3	609842	"?Mental retardation, autosomal recessive 50, 616460 (3)"	616460	25701870
ENSG00000179163	FUCA1	612280	"Fucosidosis, 230000 (3)"	230000	2903667
ENSG00000179270	C2orf71	613425	"Retinitis pigmentosa 54, 613428 (3)"	613428	20398886
ENSG00000179295	"PTPN11, PTP2C, SHP2, NS1, JMML, METCDS"	176876	"LEOPARD syndrome 1, 151100 (3)"	151100	12058348
ENSG00000179295	"PTPN11, PTP2C, SHP2, NS1, JMML, METCDS"	176876	"Metachondromatosis, 156250 (3)"	156250	20577567
ENSG00000179295	"PTPN11, PTP2C, SHP2, NS1, JMML, METCDS"	176876	"Noonan syndrome 1, 163950 (3)"	163950	11704759
ENSG00000179348	GATA2	137295	"Emberger syndrome, 614038 (3)"	614038	21892158
ENSG00000179348	GATA2	137295	"Immunodeficiency 21, 614172 (3)"	614172	21670465
ENSG00000179455	"MKRN3, ZFP127, ZNF127, CPPB2"	603856	"Precocious puberty, central, 2, 615346 (3)"	615346	23738509
ENSG00000179456	ZBTB18	608433	"?Mental retardation, autosomal dominant 22, 612337 (3)"	612337	24193349
ENSG00000179477	ALOX12B	603741	"Ichthyosis, congenital, autosomal recessive 2, 242100 (3)"	242100	11773004
ENSG00000179520	SLC17A8	607557	"Deafness, autosomal dominant 25, 605583 (3)"	605583	18674745
ENSG00000179583	CIITA	600005	"Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)"	209920	
ENSG00000179627	ZBTB42	613915	"?Lethal congenital contracture syndrome 6, 616248 (3)"	616248	25055871
ENSG00000179774	"ATOH7, PHPVAR, NCRNA"	609875	"Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)"	221900	21441919
ENSG00000179855	GIPC3	608792	"Deafness, autosomal recessive 15, 601869 (3)"	601869	21326233
ENSG00000179915	"NRXN1, PTHSL2, SCZD17"	600565	"Pitt-Hopkins-like syndrome 2, 614325 (3)"	614325	19896112
ENSG00000179941	BBS10	610148	"Bardet-Biedl syndrome 10, 615987 (3)"	615987	16582908
ENSG00000179981	TSHZ1	614427	"Aural atresia, congenital, 607842 (3)"	607842	22152683
ENSG00000180053	NKX2-6	611770	"Conotruncal heart malformations, 217095 (3)"	217095	14585638
ENSG00000180053	"NKX2-6, CSX2, CTHM"	611770	"Persistent truncus arteriosus, 217095 (3)"	217095	24421281
ENSG00000180176	"TH, TYH"	191290	"Segawa syndrome, recessive, 605407 (3)"	605407	7814018
ENSG00000180210	F2	176930	"Dysprothrombinemia, 613679 (3)"	613679	10651742
ENSG00000180210	F2	176930	"Hypoprothrombinemia, 613679 (3)"	613679	7740448
ENSG00000180210	"F2, THPH1, RPRGL2"	176930	"Thrombophilia due to thrombin defect, 188050 (3)"	188050	9869612
ENSG00000180228	PRKRA	603424	"Dystonia 16, 612067 (3)"	612067	18243799
ENSG00000180316	PNPLA1	612121	"Ichthyosis, congenital, autosomal recessive 10, 615024 (3)"	615024	22246504
ENSG00000180318	ALX1	601527	"?Frontonasal dysplasia 3, 613456 (3)"	613456	20451171
ENSG00000180398	MCFD2	607788	"Factor V and factor VIII, combined deficiency of, 613625 (3)"	613625	12717434
ENSG00000180509	KCNE1	176261	"Jervell and Lange-Nielsen syndrome 2, 612347 (3)"	612347	9341873
ENSG00000180509	"KCNE1, JLNS, LQT5, JLNS2"	176261	"Long QT syndrome 5, 613695 (3)"	613695	10973849
ENSG00000180644	PRF1	170280	"Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)"	603553	10583959
ENSG00000180875	"GREM2, PRDC, STHAG9"	608832	"Tooth agenesis, selective, 9, 617275 (3)"	617275	26416033
ENSG00000180879	SSR4	300090	"Congenital disorder of glycosylation, type Iy, 300934 (3)"	300934	24218363
ENSG00000180902	D2HGDH	609186	"D-2-hydroxyglutaric aciduria, 600721 (3)"	600721	15609246
ENSG00000180921	FAM83H	611927	"Amelogenesis imperfecta, type III, 130900 (3)"	130900	18252228
ENSG00000181004	BBS12	610683	"Bardet-Biedl syndrome 12, 615989 (3)"	615989	17160889
ENSG00000181027	"FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5"	606596	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)"	613153	15121789
ENSG00000181027	"FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5"	606596	"Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3)"	606612	11592034
ENSG00000181027	"FKRP, MDC1C, LGMD2I, MDDGA5, MDDGB5, MDDGC5"	606596	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3)"	607155	11592034
ENSG00000181038	"METTL23, C17orf95, MRT44"	615262	"Mental retardation, autosomal recessive 44, 615942 (3)"	615942	24501276
ENSG00000181090	"EHMT1, EUHMTASE1, DEL9q34"	607001	"Kleefstra syndrome, 610253 (3)"	610253	16826528
ENSG00000181092	ADIPOQ	605441	"Adiponectin deficiency, 612556 (3)"	612556	10918532
ENSG00000181192	DHTKD1	614984	"2-aminoadipic 2-oxoadipic aciduria, 204750 (3)"	204750	23141293
ENSG00000181192	DHTKD1	614984	"?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)"	615025	23141294
ENSG00000181392	SYNE4	615535	"Deafness, autosomal recessive 76, 615540 (3)"	615540	23348741
ENSG00000181449	"SOX2, MCOPS3"	184429	"Microphthalmia, syndromic 3, 206900 (3)"	206900	12612584
ENSG00000181449	"SOX2, MCOPS3"	184429	"Optic nerve hypoplasia and abnormalities of the central nervous system, 206900 (3)"	206900	12612584
ENSG00000181481	"RNF135, MMFD"	611358	"Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3)"	614192	17632510
ENSG00000181523	"SGSH, MPS3A, SFMD"	605270	"Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900 (3)"	252900	7493035
ENSG00000181541	"MAB21L2, MCOPS14"	604357	"Microphthalmia, syndromic 14, 615877 (3)"	615877	24906020
ENSG00000181544	FANCB	300515	"Fanconi anemia, complementation group B, 300514 (3)"	300514	15502827
ENSG00000181555	"SETD2, SET2, HYPB, HBP231, KIAA1732, LLS"	612778	"Luscan-Lumish syndrome, 616831 (3)"	616831	"22495309, 23160955"
ENSG00000181585	TMIE	607237	"Deafness, autosomal recessive 6, 600971 (3)"	600971	12145746
ENSG00000181656	GPR88	607468	"?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)"	616939	27123486
ENSG00000181722	"ZBTB20, ZNF288, DPZF, PRIMS"	606025	"Primrose syndrome, 259050 (3)"	259050	25017102
ENSG00000181830	SLC35C1	605881	"Congenital disorder of glycosylation, type IIc, 266265 (3)"	266265	"11326279, 11326280"
ENSG00000181873	IBA57	615316	"?Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)"	615330	23462291
ENSG00000181873	IBA57	615316	"?Spastic paraplegia 74, autosomal recessive, 616451 (3)"	616451	25609768
ENSG00000182004	SNRPE	128260	"Hypotrichosis 11, 615059 (3)"	615059	23246290
ENSG00000182040	"SANS, USH1G"	607696	"Usher syndrome, type 1G, 606943 (3)"	606943	12588794
ENSG00000182054	IDH2	147650	"D-2-hydroxyglutaric aciduria 2, 613657 (3)"	613657	20847235
ENSG00000182117	NOP10	606471	"Dyskeratosis congenita, autosomal recessive 1, 224230 (3)"	224230	17507419
ENSG00000182150	ERCC6L2	615667	"Bone marrow failure syndrome 2, 615715 (3)"	615715	24507776
ENSG00000182173	TSEN54	608755	"?Pontocerebellar hypoplasia type 5, 610204 (3)"	610204	21368912
ENSG00000182173	"TSEN54, SEN54, PCH2A, PCH4, PCH5"	608755	"Pontocerebellar hypoplasia type 2A, 277470 (3)"	277470	18711368
ENSG00000182173	"TSEN54, SEN54, PCH2A, PCH4, PCH5"	608755	"Pontocerebellar hypoplasia type 4, 225753 (3)"	225753	18711368
ENSG00000182180	MRPS16	609204	"Combined oxidative phosphorylation deficiency 2, 610498 (3)"	610498	15505824
ENSG00000182187	CRYGB	123670	"Cataract 39, multiple types, autosomal dominant, 615188 (3)"	615188	23288985
ENSG00000182197	EXT1	608177	"Chondrosarcoma, 215300 (3)"	215300	7726168
ENSG00000182197	EXT1	608177	"Exostoses, multiple, type 1, 133700 (3)"	133700	7550340
ENSG00000182220	ATP6AP2	300556	"?Parkinsonism with spasticity, X-linked, 300911 (3)"	300911	23595882
ENSG00000182220	"ATP6AP2, ATP6M8-9, XMRE, MRXSH, XPDS"	300556	"Mental retardation, X-linked, syndromic, Hedera type, 300423 (3)"	300423	15746149
ENSG00000182287	"AP1S2, MRX59, MRXSF, MRXS21, MRXS5, PGS"	300629	"Mental retardation, X-linked syndromic 5, 304340 (3)"	304340	19377476
ENSG00000182326	C1S	120580	"C1s deficiency, 613783 (3)"	613783	9856483
ENSG00000182326	C1S	120580	"Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)"	617174	27745832
ENSG00000182372	CLN8	607837	"Ceroid lipofuscinosis, neuronal, 8, 600143 (3)"	600143	15024724
ENSG00000182372	CLN8	607837	"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, 610003 (3)"	610003	10508524
ENSG00000182389	CACNB4	601949	"Episodic ataxia, type 5, 613855 (3)"	613855	10762541
ENSG00000182492	"BGN, SEMDX, MRLS"	301870	"Meester-Loeys syndrome, 300989 (3)"	300989	27632686
ENSG00000182492	"BGN, SEMDX, MRLS"	301870	"Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)"	300106	27236923
ENSG00000182512	GLRX5	609588	"Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)"	616860	17485548
ENSG00000182512	"GLRX5, C14orf87, PRO1238, FLB4739, PRSA, SIDBA3, SPAHGC"	609588	"Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)"	616859	24334290
ENSG00000182533	CAV3	601253	"Cardiomyopathy, familial hypertrophic, 192600 (3)"	192600	1975517
ENSG00000182533	CAV3	601253	"Creatine phosphokinase, elevated serum, 123320 (3)"	123320	10746614
ENSG00000182533	"CAV3, LGMD1C, LQT9"	601253	"Long QT syndrome 9, 611818 (3)"	611818	17060380
ENSG00000182533	"CAV3, LGMD1C, LQT9"	601253	"Muscular dystrophy, limb-girdle, type IC, 607801 (3)"	607801	9537420
ENSG00000182533	"CAV3, LGMD1C, LQT9"	601253	"Myopathy, distal, Tateyama type, 614321 (3)"	614321	11805270
ENSG00000182533	"CAV3, LGMD1C, LQT9"	601253	"Rippling muscle disease, 606072 (3)"	606072	11431690
ENSG00000182578	"CSF1R, FMS, HDLS"	164770	"Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3)"	221820	22197934
ENSG00000182621	PLCB1	607120	"Epileptic encephalopathy, early infantile, 12, 613722 (3)"	613722	20833646
ENSG00000182636	NDN	602117	"Prader-Willi syndrome, 176270 (3)"	176270	11230184
ENSG00000182774	RPS17	180472	"Diamond-Blackfan anemia 4, 612527 (3)"	612527	17647292
ENSG00000182858	ALG12	607144	"Congenital disorder of glycosylation, type Ig, 607143 (3)"	607143	11983712
ENSG00000182866	LCK	153390	"?Immunodeficiency 22, 615758 (3)"	615758	9664084
ENSG00000182871	"COL18A1, KNO1"	120328	"Knobloch syndrome, type 1, 267750 (3)"	267750	8776601
ENSG00000182872	"RBM10, DXS8237E, KIAA0122, TARPS"	300080	"TARP syndrome, 311900 (3)"	311900	20451169
ENSG00000182899	RPL35A	180468	"Diamond-Blackfan anemia 5, 612528 (3)"	612528	18535205
ENSG00000182923	CEP63	614724	"?Seckel syndrome 6, 614728 (3)"	614728	21983783
ENSG00000182944	EWSR1	133450	"Ewing sarcoma, 612219 (3)"	612219	
ENSG00000183010	PYCR1	179035	"Cutis laxa, autosomal recessive, type IIB, 612940 (3)"	612940	19576563
ENSG00000183010	PYCR1	179035	"Cutis laxa, autosomal recessive, type IIIB, 614438 (3)"	614438	19648921
ENSG00000183044	ABAT	137150	"GABA-transaminase deficiency, 613163 (3)"	613163	10407778
ENSG00000183072	NKX2-5	600584	"Atrial septal defect 7, with or without AV conduction defects, 108900 (3)"	108900	9651244
ENSG00000183072	NKX2-5	600584	"Conotruncal heart malformations, variable, 217095 (3)"	217095	14585638
ENSG00000183072	NKX2-5	600584	"Hypoplastic left heart syndrome 2, 614435 (3)"	614435	14607454
ENSG00000183072	"NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2"	600584	"Tetralogy of Fallot, 187500 (3)"	187500	10587520
ENSG00000183072	"NKX2-5, NKX2E, CSX, CHNG5, VSD3, HLHS2"	600584	"Ventricular septal defect 3, 614432 (3)"	614432	21110066
ENSG00000183091	"NEB, NEM2"	161650	"Nemaline myopathy 2, autosomal recessive, 256030 (3)"	256030	10051637
ENSG00000183098	"GPC6, OMIMD1"	604404	"Omodysplasia 1, 258315 (3)"	258315	19481194
ENSG00000183161	FANCF	613897	"Fanconi anemia, complementation group F, 603467 (3)"	603467	10615118
ENSG00000183196	"CHST6, MCDC1"	605294	"Macular corneal dystrophy, 217800 (3)"	217800	11017086
ENSG00000183230	CTNNA3	607667	"Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)"	615616	23136403
ENSG00000183287	CCBE1	612753	"Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)"	235510	19935664
ENSG00000183337	"BCOR, KIAA1575, MCOPS2, MAA2, ANOP2"	300485	"Microphthalmia, syndromic 2, 300166 (3)"	300166	15004558
ENSG00000183421	"RIPK4, NKRD3, DIK, PPS2"	605706	"Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)"	263650	22197488
ENSG00000183423	"LRIT3, FIGLER4, CSNB1F"	615004	"Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)"	615058	23246293
ENSG00000183454	GRIN2A	138253	"Epilepsy, focal, with speech disorder and with or without mental retardation, 245570 (3)"	245570	20890276
ENSG00000183513	COA5	613920	"?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3)"	616500	21457908
ENSG00000183597	"TANGO2, C22orf25, MECRCN"	616830	"Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)"	616878	26805781
ENSG00000183605	SFXN4	615564	"Combined oxidative phosphorylation deficiency 18, 615578 (3)"	615578	24119684
ENSG00000183638	RP1L1	608581	"Occult macular dystrophy, 613587 (3)"	613587	20826268
ENSG00000183691	NOG	602991	"Brachydactyly, type B2, 611377 (3)"	611377	17668388
ENSG00000183691	"NOG, SYM1, SYNS1A"	602991	"Multiple synostoses syndrome 1, 186500 (3)"	186500	10080184
ENSG00000183691	"NOG, SYM1, SYNS1A"	602991	"Stapes ankylosis with broad thumb and toes, 184460 (3)"	184460	12089654
ENSG00000183691	"NOG, SYM1, SYNS1A"	602991	"Symphalangism, proximal, 1A, 185800 (3)"	185800	10080184
ENSG00000183691	"NOG, SYM1, SYNS1A"	602991	"Tarsal-carpal coalition syndrome, 186570 (3)"	186570	11545688
ENSG00000183733	"FIGLA, POF6"	608697	"Premature ovarian failure 6, 612310 (3)"	612310	18499083
ENSG00000183735	TBK1	604834	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)"	616439	25700176
ENSG00000183762	KREMEN1	609898	"Ectodermal dysplasia 13, hair/tooth type, 617392 (3)"	617392	27049303
ENSG00000183763	"TRAIP, TRIP, RNF206, SCKL9"	605958	"Seckel syndrome 9, 616777 (3)"	616777	26595769
ENSG00000183765	"CHEK2, RAD53, CHK2, CDS1, LFS2"	604373	"Li-Fraumeni syndrome, 609265 (3)"	609265	11479205
ENSG00000183770	FOXL2	605597	"Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3)"	110100	11175783
ENSG00000183770	FOXL2	605597	"Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3)"	110100	11175783
ENSG00000183770	"FOXL2, BPES, BPES1, PFRK, POF3"	605597	"Premature ovarian failure 3, 608996 (3)"	608996	12149404
ENSG00000183785	"TUBA8, TUBAL2"	605742	"Polymicrogyria with optic nerve hypoplasia, 613180 (3)"	613180	19896110
ENSG00000183873	SCN5A	600163	"Atrial fibrillation, familial, 10, 614022 (3)"	614022	16684018
ENSG00000183873	SCN5A	600163	"Brugada syndrome 1, 601144 (3)"	601144	9521325
ENSG00000183873	SCN5A	600163	"Cardiomyopathy, dilated, 1E, 601154 (3)"	601154	15466643
ENSG00000183873	SCN5A	600163	"Heart block, nonprogressive, 113900 (3)"	113900	10471492
ENSG00000183873	SCN5A	600163	"Heart block, progressive, type IA, 113900 (3)"	113900	10471492
ENSG00000183873	"SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2"	600163	"Long QT syndrome-3, 603830 (3)"	603830	7956363
ENSG00000183873	"SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2"	600163	"Sick sinus syndrome 1, 608567 (3)"	608567	14523039
ENSG00000183873	"SCN5A, LQT3, VF1, HB1, SSS1, CMD1E, CDCD2"	600163	"Ventricular fibrillation, familial, 1, 603829 (3)"	603829	10940383
ENSG00000183918	"SH2D1A, LYP, IMD5, XLP, XLPD1"	300490	"Lymphoproliferative syndrome, X-linked, 1, 308240 (3)"	308240	9771704
ENSG00000184009	ACTG1	102560	"Baraitser-Winter syndrome 2, 614583 (3)"	614583	22366783
ENSG00000184009	ACTG1	102560	"Deafness, autosomal dominant 20/26, 604717 (3)"	604717	13680526
ENSG00000184014	DENND5A	617278	"Epileptic encephalopathy, early infantile, 49, 617281 (3)"	617281	27866705
ENSG00000184047	DIABLO	605219	"Deafness, autosomal dominant 64, 614152 (3)"	614152	21722859
ENSG00000184056	VPS33B	608552	"Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)"	208085	15052268
ENSG00000184058	TBX1	602054	"Conotruncal anomaly face syndrome, 217095 (3)DiGeorge syndrome, 188400 (3)"	188400	8268909
ENSG00000184058	"TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR"	602054	"Tetralogy of Fallot, 187500 (3)"	187500	19948535
ENSG00000184058	"TBX1, DGS, CTHM, CAFS, TGA, DORV, VCFS, DGCR"	602054	"Velocardiofacial syndrome, 192430 (3)"	192430	8733128
ENSG00000184144	CNTN2	190197	"?Epilepsy, myoclonic, familial adult, 5, 615400 (3)"	615400	23518707
ENSG00000184154	LRTOMT	612414	"Deafness, autosomal recessive 63, 611451 (3)"	611451	18953341
ENSG00000184156	"KCNQ3, EBN2, BFNC2"	602232	"Seizures, benign neonatal, type 2, 121201 (3)"	121201	9425900
ENSG00000184254	"ALDH1A3, ALDH6, MCOP8"	600463	"Microphthalmia, isolated 8, 615113 (3)"	615113	23312594
ENSG00000184292	TACSTD2	137290	"Corneal dystrophy, gelatinous drop-like, 204870 (3)"	204870	10192395
ENSG00000184302	"SIX6, ODRMD"	606326	"Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)"	212550	23167593
ENSG00000184304	PRKD1	605435	"Congenital heart defects and ectodermal dysplasia, 617364 (3)"	617364	27479907
ENSG00000184344	"GDF3, KFS3, MCOPCB6, MCOP7"	606522	"Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)"	613702	19864492
ENSG00000184344	"GDF3, KFS3, MCOPCB6, MCOP7"	606522	"Microphthalmia with coloboma 6, 613703 (3)"	613703	19864492
ENSG00000184344	"GDF3, KFS3, MCOPCB6, MCOP7"	606522	"Microphthalmia, isolated 7, 613704 (3)"	613704	19864492
ENSG00000184381	PLA2G6	603604	"Infantile neuroaxonal dystrophy 1, 256600 (3)"	256600	16783378
ENSG00000184381	"PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14"	603604	"Neurodegeneration with brain iron accumulation 2B, 610217 (3)"	610217	16783378
ENSG00000184381	"PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14"	603604	"Parkinson disease 14, autosomal recessive, 612953 (3)"	612953	18570303
ENSG00000184500	"PROS1, THPH5, THPH6"	176880	"Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3)"	612336	7545463
ENSG00000184500	"PROS1, THPH5, THPH6"	176880	"Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)"	614514	10063989
ENSG00000184564	SLITRK6	609681	"Deafness and myopia, 221200 (3)"	221200	23543054
ENSG00000184584	"TMEM173, STING, MPYS, SAVI"	612374	"STING-associated vasculopathy, infantile-onset, 615934 (3)"	615934	25029335
ENSG00000184634	"MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX"	300188	"Lujan-Fryns syndrome, 309520 (3)"	309520	17369503
ENSG00000184634	"MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX"	300188	"Ohdo syndrome, X-linked, 300895 (3)"	300895	23395478
ENSG00000184634	"MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1, OHDOX"	300188	"Opitz-Kaveggia syndrome, 305450 (3)"	305450	17334363
ENSG00000184640	40057	604061	"Amyotrophy, hereditary neuralgic, 162100 (3)"	162100	16186812
ENSG00000184675	"AMER1, FAM123B, WTX, OSCS"	300647	"Osteopathia striata with cranial sclerosis, 300373 (3)"	300373	19079258
ENSG00000184743	"ATL3, HSN1F"	609369	"Neuropathy, hereditary sensory, type IF, 615632 (3)"	615632	24459106
ENSG00000184752	NDUFA12	614530	"Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)"	256000	21617257
ENSG00000184895	SRY	480000	"46XX sex reversal 1, 400045 (3)"	400045	9652903
ENSG00000184895	SRY	480000	"46XY sex reversal 1, 400044 (3)"	400044	3690661
ENSG00000184908	CLCNKB	602023	"Bartter syndrome, type 3, 607364 (3)"	607364	9326936
ENSG00000184937	WT1	607102	"Denys-Drash syndrome, 194080 (3)"	194080	1655284
ENSG00000184937	WT1	607102	"Frasier syndrome, 136680 (3)"	136680	9398852
ENSG00000184937	"WT1, NPHS4"	607102	"Meacham syndrome, 608978 (3)"	608978	17853480
ENSG00000184937	"WT1, NPHS4"	607102	"Nephrotic syndrome, type 4, 256370 (3)"	256370	9529364
ENSG00000184937	"WT1, NPHS4"	607102	"Wilms tumor, type 1, 194070 (3)"	194070	2163761
ENSG00000184979	"USP18, UBP43, ISG43, PTORCH2"	607057	"Pseudo-TORCH syndrome 2, 617397 (3)"	617397	27325888
ENSG00000185000	DGAT1	604900	"?Diarrhea 7, 615863 (3)"	615863	23114594
ENSG00000185002	"RFX6, RFXDC1, MTCHRS"	612659	"Mitchell-Riley syndrome, 615710 (3)"	615710	20148032
ENSG00000185008	"ROBO2, SAX3, KIAA1568"	602431	"Vesicoureteral reflux 2, 610878 (3)"	610878	17357069
ENSG00000185010	F8	300841	"Hemophilia A, 306700 (3)"	306700	2986011
ENSG00000185024	BRF1	604902	"Cerebellofaciodental syndrome, 616202 (3)"	616202	25561519
ENSG00000185100	"ADSL1, MPD5"	612498	"Myopathy, distal, 5, 617030 (3)"	617030	26506222
ENSG00000185115	"NSMCE3, NDNL2, MAGEG1, LICS"	608243	"Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3)"	617241	27427983
ENSG00000185129	"PURA, PUR1, MRD31"	600473	"Mental retardation, autosomal dominant 31, 616158 (3)"	616158	25439098
ENSG00000185231	MC2R	607397	"Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)"	202200	"8094489, 8227361"
ENSG00000185245	GP1BA	606672	"Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)"	231200	10706630
ENSG00000185245	GP1BA	606672	"Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)"	153670	1730088
ENSG00000185245	"GP1BA, BSS, BDPLT1, VWDP, BDPLT3"	606672	"von Willebrand disease, platelet-type, 177820 (3)"	177820	2052556
ENSG00000185303	"SFTPA2, SPA2, COLEC5"	178642	"Pulmonary fibrosis, idiopathic, 178500 (3)"	178500	19100526
ENSG00000185313	SCN10A	604427	"Episodic pain syndrome, familial, 2, 615551 (3)"	615551	23115331
ENSG00000185339	"TCN2, TC2"	613441	"Transcobalamin II deficiency, 275350 (3)"	275350	7849710
ENSG00000185344	ATP6V0A2	611716	"Cutis laxa, autosomal recessive, type IIA, 219200 (3)"	219200	18157129
ENSG00000185344	"ATP6V0A2, WSS, ARCL2A"	611716	"Wrinkly skin syndrome, 278250 (3)"	278250	18157129
ENSG00000185345	"PRKN, PARK2, PDJ, LPRS2"	602544	"Parkinson disease, juvenile, type 2, 600116 (3)"	600116	9560156
ENSG00000185479	"KRT6B, PC4"	148042	"Pachyonychia congenita 4, 615728 (3)"	615728	9618173
ENSG00000185482	"STAC3, NAM"	615521	"Native American myopathy, 255995 (3)"	255995	23736855
ENSG00000185499	"MUC1, PUM, MCKD1"	158340	"Medullary cystic kidney disease 1, 174000 (3)"	174000	23396133
ENSG00000185507	IRF7	605047	"?Immunodeficiency 39, 616345 (3)"	616345	25814066
ENSG00000185527	"PDE6G, PDEG, RP57"	180073	"Retinitis pigmentosa 57, 613582 (3)"	613582	20655036
ENSG00000185532	PRKG1	176894	"Aortic aneurysm, familial thoracic 8, 615436 (3)"	615436	23910461
ENSG00000185551	NR2F2	107773	"Congenital heart defects, multiple types, 4, 615779 (3)"	615779	24702954
ENSG00000185624	P4HB	176790	"Cole-Carpenter syndrome 1, 112240 (3)"	112240	25683117
ENSG00000185803	SLC52A2	607882	"Brown-Vialetto-Van Laere syndrome 2, 614707 (3)"	614707	22740598
ENSG00000185811	IKZF1	603023	"Immunodeficiency, common variable, 13, 616873 (3)"	616873	21548011
ENSG00000185818	NAT8L	610647	"?N-acetylaspartate deficiency, 614063 (3)"	614063	19807691
ENSG00000185825	BCAP31	300398	"Deafness, dystonia, and cerebral hypomyelination, 300475 (3)"	300475	24011989
ENSG00000185900	POMK	615247	"?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12, 616094 (3)"	616094	24925318
ENSG00000185900	"POMK, SGK196, MDDGA12, MDDGC12"	615247	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)"	615249	23519211
ENSG00000185920	PTCH1	601309	"Holoprosencephaly 7, 610828 (3)"	610828	11941477
ENSG00000185960	"SHOX, GCFX, SS, PHOG"	312865	"Langer mesomelic dysplasia, 249700 (3)"	249700	9590292
ENSG00000185960	"SHOX, GCFX, SS, PHOG"	312865	"Leri-Weill dyschondrosteosis, 127300 (3)"	127300	"9590292, 9590293"
ENSG00000185960	"SHOX, GCFX, SS, PHOG"	312865	"Short stature, idiopathic familial, 300582 (3)"	300582	9140395
ENSG00000185960	SHOXY	400020	"Langer mesomelic dysplasia, 249700 (3)"	249700	9590292
ENSG00000185960	SHOXY	400020	"Leri-Weill dyschondrosteosis, 127300 (3)"	127300	"9590292, 9590293"
ENSG00000185960	SHOXY	400020	"Short stature, idiopathic familial, 300582 (3)"	300582	9140395
ENSG00000185963	"BICD2, KIAA0699, SMALED2"	609797	"Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 (3)"	615290	23664116
ENSG00000185974	"GRK1, RHOK, RK"	180381	"Oguchi disease-2, 613411 (3)"	613411	9020843
ENSG00000186073	C15orf41	615626	"Dyserythropoietic anemia, congenital, type Ib, 615631 (3)"	615631	23716552
ENSG00000186081	KRT5	148040	"Dowling-Degos disease 1, 179850 (3)"	179850	16465624
ENSG00000186081	KRT5	148040	"Epidermolysis bullosa simplex-MP, 131960 (3)"	131960	8799157
ENSG00000186081	KRT5	148040	"Epidermylysis bullosa simplex-MCR, 609352 (3)"	609352	12925204
ENSG00000186104	CYP2R1	608713	"Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)"	600081	15128933
ENSG00000186111	"PIP5K1C, LCCS3"	606102	"Lethal congenital contractural syndrome 3, 611369 (3)"	611369	17701898
ENSG00000186153	WWOX	605131	"Epileptic encephalopathy, early infantile, 28, 616211 (3)"	616211	24456803
ENSG00000186153	"WWOX, FOR, SCAR12, EIEE28"	605131	"Spinocrebellar ataxia, autosomal recessive 12, 614322 (3)"	614322	24369382
ENSG00000186184	"POLR1D, RPA16, RPAC2, TCS2"	613715	"Treacher Collins syndrome 2, 613717 (3)"	613717	21131976
ENSG00000186197	EDARADD	606603	"Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)"	614940	17354266
ENSG00000186197	EDARADD	606603	"Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)"	614941	11780064
ENSG00000186395	KRT10	148080	"Ichthyosis with confetti, 609165 (3)"	609165	20798280
ENSG00000186417	"GLDN, CRGL2, LCCS11"	608603	"Lethal congenital contracture syndrome 11, 617194 (3)"	617194	27616481
ENSG00000186439	"TRDN, TDN, CPVT5"	603283	"Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)"	615441	22422768
ENSG00000186442	KRT3	148043	"Meesmann corneal dystrophy, 122100 (3)"	122100	22174841
ENSG00000186472	PCLO	604918	"?Pontocerebellar hypoplasia, type 3, 608027 (3)"	608027	25832664
ENSG00000186487	"MYT1L, KIAA1106, MRD39"	613084	"Mental retardation, autosomal dominant 39, 616521 (3)"	616521	23033978
ENSG00000186575	NF2	607379	"Neurofibromatosis, type 2, 101000 (3)"	101000	8379998
ENSG00000186575	NF2	607379	"Schwannomatosis, 162091 (3)"	162091	7798645
ENSG00000186687	"LYRM7, MZM1L, MC3DN8"	615831	"Mitochondrial complex III deficiency, nuclear type 8, 615838 (3)"	615838	24014394
ENSG00000186765	"FSCN2, RFSN, RP30"	607643	"Retinitis pigmentosa 30, 607921 (3)"	607921	11527955
ENSG00000186790	FOXE3	601094	"Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)"	610256	11159941
ENSG00000186790	FOXE3	601094	"Cataract 34, multiple types, 612968 (3)"	612968	27218149
ENSG00000186827	TNFRSF4	600315	"?Immunodeficiency 16, 615593 (3)"	615593	23897980
ENSG00000186832	"KRT16, FNEPPK, PC1"	148067	"Pachyonychia congenita 1, 167200 (3)"	167200	7539673
ENSG00000186832	"KRT16, FNEPPK, PC1"	148067	"Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)"	613000	8595410
ENSG00000186847	KRT14	148066	"Dermatopathia pigmentosa reticularis, 125595 (3)"	125595	16960809
ENSG00000186847	KRT14	148066	"Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)"	161000	16960809
ENSG00000186862	PDZD7	612971	"Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)"	605472	14740321
ENSG00000186868	MAPT	157140	"Dementia, frontotemporal, with or without parkinsonism, 600274 (3)"	600274	9641683
ENSG00000186895	FGF3	164950	"Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)"	610706	17236138
ENSG00000187017	ESPN	606351	"Deafness, autosomal recessive 36, 609006 (3)Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)"	609006	15286153
ENSG00000187045	TMPRSS6	609862	"Iron-refractory iron deficiency anemia, 206200 (3)"	206200	18408718
ENSG00000187049	TMEM216	613277	"Joubert syndrome 2, 608091 (3)"	608091	20036350
ENSG00000187049	"TMEM216, JBTS2, CORS2, MKS2"	613277	"Meckel syndrome 2, 603194 (3)"	603194	20512146
ENSG00000187079	"TEAD1, TCF13, REF1"	189967	"Sveinsson chorioretinal atrophy, 108985 (3)"	108985	7795606
ENSG00000187091	"PLCD1, NDNC3"	602142	"Nail disorder, nonsyndromic congenital, 3, (leukonychia), 151600 (3)"	151600	21665001
ENSG00000187098	MITF	156845	"COMMAD syndrome, 617306 (3)"	617306	27889061
ENSG00000187098	"MITF, WS2A, CMM8, COMMAD"	156845	"Tietz albinism-deafness syndrome, 103500 (3)"	103500	8589691
ENSG00000187098	"MITF, WS2A, CMM8, COMMAD"	156845	"Waardenburg syndrome, type 2A, 193510 (3)"	193510	7874167
ENSG00000187098	"MITF, WS2A, CMM8, COMMAD"	156845	"Waardenburg syndrome/ocular albinism, digenic, 103470 (3)"	103470	9158138
ENSG00000187240	"DYNC2H1, DNCH2, DHC2, ATD3, SRPS2B, SRTD3"	603297	"Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)"	613091	19442771
ENSG00000187266	EPOR	133171	"[Erythrocytosis, familial, 1], 133100 (3)"	133100	8093406
ENSG00000187288	CIDEC	612120	"?Lipodystrophy, familial partial, type 5, 615238 (3)"	615238	20049731
ENSG00000187323	"DCC, MRMV1"	120470	"Mirror movements 1, 157600 (3)"	157600	20431009
ENSG00000187486	KCNJ11	600937	"Diabetes mellitus, transient neonatal, 3, 610582 (3)"	610582	15784703
ENSG00000187486	KCNJ11	600937	"Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)"	606176	15115830
ENSG00000187486	KCNJ11	600937	"Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)"	601820	8923010
ENSG00000187486	"KCNJ11, BIR, PHHI, HHF2, TNDM3, MODY13"	600937	"Maturity-onset diabetes of the young, type 13, 616329 (3)"	616329	15784703
ENSG00000187498	COL4A1	120130	"?Retinal arteries, tortuosity of, 180000 (3)"	180000	25228067
ENSG00000187498	COL4A1	120130	"Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)"	611773	18160688
ENSG00000187498	COL4A1	120130	"Brain small vessel disease with or without ocular anomalies, 607595 (3)"	607595	16598045
ENSG00000187498	"COL4A1, POREN1, HANAC, ICH, BSVD, RATOR"	120130	"Porencephaly 1, 175780 (3)"	175780	15905400
ENSG00000187535	"IFT140, KIAA0590, SRTD9, MZSDS"	614620	"Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)"	266920	22503633
ENSG00000187553	CYP26C1	608428	"Focal facial dermal dysplasia 4, 614974 (3)"	614974	23161670
ENSG00000187566	NHLRC1	608072	"Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)"	254780	12958597
ENSG00000187608	ISG15	147571	"Immunodeficiency 38, 616126 (3)"	616126	22859821
ENSG00000187676	"B3GLCT, B3GALTL, B3GTL"	610308	"Peters-plus syndrome, 261540 (3)"	261540	16909395
ENSG00000187678	SPRY4	607984	"Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3)"	615266	23643382
ENSG00000187714	"SLC18A3, VACHT, CMS21"	600336	"Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)"	617239	27590285
ENSG00000187726	DNAJB13	610263	"Ciliary dyskinesia, primary, 34, 617091 (3)"	617091	27486783
ENSG00000187736	"NHEJ1, XLF"	611290	"Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)"	611291	16439204
ENSG00000187741	FANCA	607139	"Fanconi anemia, complementation group A, 227650 (3)"	227650	19423727
ENSG00000187742	"SECISBP2, SBP2"	607693	"Thyroid hormone metabolism, abnormal, 609698 (3)"	609698	16228000
ENSG00000187796	CARD9	607212	"Candidiasis, familial, 2, autosomal recessive, 212050 (3)"	212050	19864672
ENSG00000187848	P2RX2	600844	"Deafness, autosomal dominant 41, 608224 (3)"	608224	23345450
ENSG00000188021	UBQLN2	300264	"Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 (3)"	300857	21857683
ENSG00000188037	CLCN1	118425	"Myotonia congenita, dominant, 160800 (3)"	160800	7981750
ENSG00000188037	CLCN1	118425	"Myotonia congenita, recessive, 255700 (3)"	255700	1379744
ENSG00000188095	"MESP2, SCDO2"	605195	"Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)"	608681	15122512
ENSG00000188107	"EYS, RP25"	612424	"Retinitis pigmentosa 25, 602772 (3)"	602772	18510646
ENSG00000188153	COL4A5	303630	"Alport syndrome, 301050 (3)"	301050	2349482
ENSG00000188157	"AGRN, CMS8"	103320	"Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)"	615120	19631309
ENSG00000188158	NHS	300457	"Cataract 40, X-linked, 302200 (3)"	302200	19414485
ENSG00000188158	"NHS, CXN, CTRCT40"	300457	"Nance-Horan syndrome, 302350 (3)"	302350	14564667
ENSG00000188162	OTOG	604487	"Deafness, autosomal recessive 18B, 614945 (3)"	614945	23122587
ENSG00000188419	CHM	300390	"Choroideremia, 303100 (3)"	303100	"1598901, 1302003"
ENSG00000188452	"CERKL, RP26"	608381	"Retinitis pigmentosa 26, 608380 (3)"	608380	14681825
ENSG00000188467	SLC24A5	609802	"Albinism, oculocutaneous, type VI, 113750 (3)"	113750	23364476
ENSG00000188517	COL25A1	610004	"Fibrosis of extraocular muscles, congenital, 5, 616219 (3)"	616219	25500261
ENSG00000188536	"HBA2, HBH"	141850	"Thalassemia, alpha-, 604131 (3)"	604131	1115799
ENSG00000188603	CLN3	607042	"Ceroid lipofuscinosis, neuronal, 3, 204200 (3)"	204200	7553855
ENSG00000188613	"NANOS1, NOS1, SPGF12"	608226	"Spermatogenic failure 12, 615413 (3)"	615413	23315541
ENSG00000188641	DPYD	612779	"5-fluorouracil toxicity, 274270 (3)Dihydropyrimidine dehydrogenase deficiency, 274270 (3)"	274270	7832988
ENSG00000188690	UROS	606938	"Porphyria, congenital erythropoietic, 263700 (3)"	263700	2331520
ENSG00000188706	"ZDHHC9, DHHC9, MRXSZ"	300646	"Mental retardation, X-linked syndromic, Raymond type, 300799 (3)"	300799	17436253
ENSG00000188827	SLX4	613278	"Fanconi anemia, complementation group P, 613951 (3)"	613951	21240277
ENSG00000188906	"LRRK2, PARK8"	609007	"{Parkinson disease 8}, 607060 (3)"	607060	15541308
ENSG00000188910	GJB3	603324	"Deafness, autosomal dominant 2B, 612644 (3)"	612644	9843210
ENSG00000188937	"NYX, CSNB1A, NBM1"	300278	"Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)"	310500	8434607
ENSG00000189056	"RELN, RL, LIS2, ETL7"	600514	"{Epilepsy, familial temporal lobe, 7}, 616436 (3)"	616436	26046367
ENSG00000189056	"RELN, RL, LIS2, ETL7"	600514	"Lissencephaly 2 (Norman-Roberts type), 257320 (3)"	257320	10973257
ENSG00000189057	"FAM111B, POIKTMP"	615584	"Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)"	615704	24268661
ENSG00000189067	LITAF	603795	"Charcot-Marie-Tooth disease, type 1C, 601098 (3)"	601098	12525712
ENSG00000189114	BLOC1S3	609762	"Hermansky-Pudlak syndrome 8, 614077 (3)"	614077	16385460
ENSG00000189221	MAOA	309850	"Brunner syndrome, 300615 (3)"	300615	8211186
ENSG00000189221	MAOA	309850	"{Antisocial behavior}, 300615 (3)"	300615	8211186
ENSG00000189241	"TSPYL1, TSPYL, SIDDT"	604714	"Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)"	608800	15273283
ENSG00000189433	GJB4	605425	"Erythrokeratodermia variabilis with erythema gyratum repens, 133200 (3)"	133200	9843209
ENSG00000196091	MYBPC1	160794	"Arthrogryposis, distal, type 1B, 614335 (3)"	614335	20045868
ENSG00000196091	"MYBPC1, LCCS4"	160794	"Lethal congenital contracture syndrome 4, 614915 (3)"	614915	22610851
ENSG00000196116	TDRD7	611258	"Cataract 36, 613887 (3)"	613887	21436445
ENSG00000196159	FAT4	612411	"Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)"	616006	24913602
ENSG00000196159	"FAT4, VMLDS2, HKLLS2"	612411	"Van Maldergem syndrome 2, 615546 (3)"	615546	24056717
ENSG00000196177	ACADSB	600301	"2-methylbutyrylglycinuria, 610006 (3)"	610006	11013134
ENSG00000196189	SEMA4A	607292	"Cone-rod dystrophy 10, 610283 (3)"	610283	16199541
ENSG00000196189	"SEMA4A, SEMB, RP35, CORD10"	607292	"Retinitis pigmentosa 35, 610282 (3)"	610282	16199541
ENSG00000196218	RYR1	180901	"Central core disease, 117000 (3)"	117000	"8220422, 8220423"
ENSG00000196218	"RYR1, MHS, CCO"	180901	"King-Denborough syndrome, 145600 (3)"	145600	18765655
ENSG00000196218	"RYR1, MHS, CCO"	180901	"Minicore myopathy with external ophthalmoplegia, 255320 (3)"	255320	12719381
ENSG00000196218	"RYR1, MHS, CCO"	180901	"Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)"	117000	"8220422, 8220423"
ENSG00000196230	TUBB	191130	"Cortical dysplasia, complex, with other brain malformations 6, 615771 (3)"	615771	23246003
ENSG00000196236	"XPNPEP3, APP3, NPHPL1"	613553	"Nephronophthisis-like nephropathy 1, 613159 (3)"	613159	20179356
ENSG00000196296	ATP2A1	108730	"Brody myopathy, 601003 (3)"	601003	8841193
ENSG00000196305	IARS	600709	"Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)"	617093	27426735
ENSG00000196365	LONP1	605490	"CODAS syndrome, 600373 (3)"	600373	25574826
ENSG00000196431	CRYBA4	123631	"Cataract 23, 610425 (3)"	610425	16960806
ENSG00000196459	"TRAPPC2, SEDL, SEDT"	300202	"Spondyloepiphyseal dysplasia tarda, 313400 (3)"	313400	10431248
ENSG00000196468	"FGF16, MF4"	300827	"Metacarpal 4-5 fusion, 309630 (3)"	309630	23709756
ENSG00000196511	"TPK1, THMD5"	606370	"Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)"	614458	22152682
ENSG00000196517	SLC6A9	601019	"Glycine encephalopathy with normal serum glycine, 617301 (3)"	617301	27481395
ENSG00000196549	MME	120520	"?Spinocerebellar ataxia 43, 617018 (3)"	617018	27583304
ENSG00000196549	MME	120520	"Charcot-Marie-Tooth disease, axonal, type 2T, 617017 (3)"	617017	26991897
ENSG00000196557	CACNA1H	607904	"Hyperaldosteronism, familial, type IV, 617027 (3)"	617027	25907736
ENSG00000196565	HBG2	142250	"Cyanosis, transient neonatal, 613977 (3)"	613977	2483933
ENSG00000196569	"LAMA2, LAMM"	156225	"Muscular dystrophy, congenital merosin-deficient, 607855 (3)"	607855	7550355
ENSG00000196569	"LAMA2, LAMM"	156225	"Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)"	607855	7550355
ENSG00000196584	XRCC2	600375	"?Fanconi anemia, complementation group U, 617247 (3)"	617247	22232082
ENSG00000196586	MYO6	600970	"Deafness, autosomal dominant 22, 606346 (3)"	606346	11468689
ENSG00000196586	MYO6	600970	"Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, 606346 (3)"	606346	15060111
ENSG00000196586	MYO6	600970	"Deafness, autosomal recessive 37, 607821 (3)"	607821	12687499
ENSG00000196611	MMP1	120353	"COPD, rate of decline of lung function in, 606963 (3)"	606963	10631150
ENSG00000196628	"TCF4, SEF2, ITF2, PTHS, FECD3"	602272	"Pitt-Hopkins syndrome, 610954 (3)"	610954	"17436254, 17436255"
ENSG00000196660	SLC30A10	611146	"Hypermanganesemia with dystonia 1, 613280 (3)"	613280	22341972
ENSG00000196663	"TECPR2, KIAA0329, SPG49"	615000	"Spastic paraplegia 49, autosomal recessive, 615031 (3)"	615031	23176824
ENSG00000196712	"NF1, VRNF, WSS, NFNS"	613113	"Neurofibromatosis, familial spinal, 162210 (3)"	162210	9529361
ENSG00000196712	"NF1, VRNF, WSS, NFNS"	613113	"Neurofibromatosis, type 1, 162200 (3)"	162200	2134734
ENSG00000196712	"NF1, VRNF, WSS, NFNS"	613113	"Neurofibromatosis-Noonan syndrome, 601321 (3)"	601321	12707950
ENSG00000196712	"NF1, VRNF, WSS, NFNS"	613113	"Watson syndrome, 193520 (3)"	193520	1302608
ENSG00000196739	COL27A1	608461	"?Steel syndrome, 615155 (3)"	615155	24986830
ENSG00000196743	GM2A	613109	"GM2-gangliosidosis, AB variant, 272750 (3)"	272750	1915858
ENSG00000196767	POU3F4	300039	"Deafness, X-linked 2, 304400 (3)"	304400	7839145
ENSG00000196811	CHRNG	100730	"Escobar syndrome, 265000 (3)"	265000	"16826520, 16826531"
ENSG00000196811	"CHRNG, ACHRG"	100730	"Multiple pterygium syndrome, lethal type, 253290 (3)"	253290	"16826520, 16826531"
ENSG00000196839	ADA	608958	"Adenosine deaminase deficiency, partial, 102700 (3)"	102700	3007108
ENSG00000196839	ADA	608958	"Severe combined immunodeficiency due to ADA deficiency, 102700 (3)"	102700	6198631
ENSG00000196876	SCN8A	600702	"?Cognitive impairment with or without cerebellar ataxia, 614306 (3)"	614306	16236810
ENSG00000196876	SCN8A	600702	"Epileptic encephalopathy, early infantile, 13, 614558 (3)"	614558	22365152
ENSG00000196876	"SCN8A, CIAT, EIEE13, BFIS5"	600702	"Seizures, benign familial infantile, 5, 617080 (3)"	617080	26677014
ENSG00000196878	LAMB3	150310	"Amelogenesis imperfecta, type IA, 104530 (3)"	104530	23958762
ENSG00000196924	FLNA	300017	"Cardiac valvular dysplasia, X-linked, 314400 (3)"	314400	17190868
ENSG00000196924	FLNA	300017	"Congenital short bowel syndrome, 300048 (3)"	300048	23037936
ENSG00000196924	FLNA	300017	"FG syndrome 2, 300321 (3)"	300321	17632775
ENSG00000196924	FLNA	300017	"Frontometaphyseal dysplasia 1, 305620 (3)"	305620	12612583
ENSG00000196924	FLNA	300017	"Heterotopia, periventricular, 300049 (3)"	300049	9883725
ENSG00000196924	FLNA	300017	"Intestinal pseudoobstruction, neuronal, 300048 (3)"	300048	17357080
ENSG00000196924	"FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS"	300017	"Melnick-Needles syndrome, 309350 (3)"	309350	12612583
ENSG00000196924	"FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS"	300017	"Otopalatodigital syndrome, type I, 311300 (3)"	311300	12612583
ENSG00000196924	"FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS"	300017	"Otopalatodigital syndrome, type II, 304120 (3)"	304120	12612583
ENSG00000196924	"FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS"	300017	"Terminal osseous dysplasia, 300244 (3)"	300244	20583181
ENSG00000196998	"WDR45, WIPI4, NBIA5"	300526	"Neurodegeneration with brain iron accumulation 5, 300894 (3)"	300894	23176820
ENSG00000197102	DYNC1H1	600112	"Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)"	614228	21820100
ENSG00000197102	"DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1"	600112	"Mental retardation, autosomal dominant 13, 614563 (3)"	614563	21076407
ENSG00000197102	"DYNC1H1, DNCL, DNECL, CMT20, MRD13, SMALED1"	600112	"Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)"	158600	22459677
ENSG00000197106	"SLC6A17, NTT4, MRT48"	610299	"Mental retardation, autosomal recessive 48, 616269 (3)"	616269	25704603
ENSG00000197121	"PGAP1, MRT42"	611655	"Mental retardation, autosomal recessive 42, 615802 (3)"	615802	24784135
ENSG00000197122	SRC	190090	"?Thrombocytopenia 6, 616937 (3)"	616937	26936507
ENSG00000197249	SERPINA1	107400	"Emphysema due to AAT deficiency, 613490 (3)"	613490	2696185
ENSG00000197249	SERPINA1	107400	"Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)"	613490	2696185
ENSG00000197249	SERPINA1	107400	"Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)"	613490	2696185
ENSG00000197256	"KANK2, ANKRD25, KIAA1518, PPKWH"	614610	"Palmoplantar keratoderma and woolly hair, 616099 (3)"	616099	24671081
ENSG00000197265	"GTF2E2, TTD6"	189964	"Trichothiodystrophy 6, nonphotosensitive, 616943 (3)"	616943	26996949
ENSG00000197283	"SYNGAP1, MRD5"	603384	"Mental retardation, autosomal dominant 5, 612621 (3)"	612621	19196676
ENSG00000197299	BLM	604610	"Bloom syndrome, 210900 (3)"	210900	"3808031, 3808032"
ENSG00000197375	SLC22A5	603377	"Carnitine deficiency, systemic primary, 212140 (3)"	212140	9916797
ENSG00000197386	HTT	613004	"Huntington disease, 143100 (3)"	143100	8458085
ENSG00000197408	CYP2B6	123930	"Efavirenz, poor metabolism of, 614546 (3)"	614546	15622315
ENSG00000197417	SHPK	605060	"[Sedoheptulokinase deficiency], 617213 (3)"	617213	25647543
ENSG00000197467	"COL13A1, CMS19"	120350	"Myasthenic syndrome, congenital, 19, 616720 (3)"	616720	26626625
ENSG00000197496	SLC2A10	606145	"Arterial tortuosity syndrome, 208050 (3)"	208050	16550171
ENSG00000197535	MYO5A	160777	"Griscelli syndrome, type 1, 214450 (3)"	214450	9207796
ENSG00000197563	"PIGN, MCAHS1"	606097	"Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)"	614080	21493957
ENSG00000197565	COL4A6	303631	"?Deafness, X-linked 6, 300914 (3)"	300914	23714752
ENSG00000197579	"TOPORS, P53BP3, LUN, RP31"	609507	"Retinitis pigmentosa 31, 609923 (3)"	609923	17924349
ENSG00000197594	ENPP1	173335	"Arterial calcification, generalized, of infancy, 1, 208000 (3)"	208000	9662402
ENSG00000197594	ENPP1	173335	"Cole disease, 615522 (3)"	615522	24075184
ENSG00000197594	ENPP1	173335	"Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)"	613312	20137773
ENSG00000197601	"FAR1, MLSTD2, PFCRD"	616107	"Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)"	616154	25439727
ENSG00000197603	C5orf42	614571	"Joubert syndrome 17, 614615 (3)"	614615	22425360
ENSG00000197603	"C5orf42, JBTS17, OFD6"	614571	"Orofaciodigital syndrome VI, 277170 (3)"	277170	20512146
ENSG00000197614	MFAP5	601103	"Aortic aneurysm, familial thoracic 9, 616166 (3)"	616166	25434006
ENSG00000197616	MYH6	160710	"Atrial septal defect 3, 614089 (3)"	614089	15735645
ENSG00000197616	MYH6	160710	"Cardiomyopathy, dilated, 1EE, 613252 (3)"	613252	15998695
ENSG00000197616	"MYH6, ASD3, MYHCA, CMD1EE, CMH14, SSS3"	160710	"{Sick sinus syndrome 3}, 614090 (3)"	614090	21378987
ENSG00000197694	SPTAN1	182810	"Epileptic encephalopathy, early infantile, 5, 613477 (3)"	613477	20493457
ENSG00000197728	RPS26	603701	"Diamond-Blackfan anemia 10, 613309 (3)"	613309	20116044
ENSG00000197746	PSAP	176801	"Combined SAP deficiency, 611721 (3)"	611721	1371116
ENSG00000197746	PSAP	176801	"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY 610539"	610539	2060627
ENSG00000197746	"PSAP, SAP1"	176801	"Krabbe disease, atypical, 611722 (3)"	611722	15773042
ENSG00000197746	"PSAP, SAP1"	176801	"Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)"	249900	8554069
ENSG00000197753	LHFPL5	609427	"Deafness, autosomal recessive 67, 610265 (3)"	610265	16459341
ENSG00000197766	CFD	134350	"Complement factor D deficiency, 613912 (3)"	613912	11457876
ENSG00000197785	ATAD3A	612316	"Harel-Yoon syndrome, 617183 (3)"	617183	27640307
ENSG00000197859	ADAMTSL2	612277	"Geleophysic dysplasia 1, 231050 (3)"	231050	18677313
ENSG00000197912	"PGN, SPG7, CMAR, CAR"	602783	"Spastic paraplegia 7, autosomal recessive, 607259 (3)"	607259	9635427
ENSG00000197943	PLCG2	600220	"Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)"	614878	23000145
ENSG00000197943	PLCG2	600220	"Familial cold autoinflammatory syndrome 3, 614468 (3)"	614468	22236196
ENSG00000197969	VPS13A	605978	"Choreoacanthocytosis, 200150 (3)"	200150	11381253
ENSG00000198001	IRAK4	606883	"IRAK4 deficiency, 607676 (3)"	607676	12637671
ENSG00000198001	IRAK4	606883	"Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)"	610799	16950813
ENSG00000198003	CCDC151	615956	"Ciliary dyskinesia, primary, 30, 616037 (3)"	616037	"25192045, 25224326"
ENSG00000198026	ZNF335	610827	"?Microcephaly 10, primary, autosomal recessive, 615095 (3)"	615095	23178126
ENSG00000198087	CD2AP	604241	"Glomerulosclerosis, focal segmental, 3, 607832 (3)"	607832	12764198
ENSG00000198130	HIBCH	610690	"3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)"	250620	17160907
ENSG00000198198	SZT2	615463	"Epileptic encephalopathy, early infantile, 18, 615476 (3)"	615476	23932106
ENSG00000198223	"CSF2RA, SMDP4"	306250	"Surfactant metabolism dysfunction, pulmonary, 4, 300770 (3)"	300770	18955567
ENSG00000198286	CARD11	607210	"B-cell expansion with NFKB and T-cell anergy, 616452 (3)"	616452	18323416
ENSG00000198286	CARD11	607210	"Immunodeficiency 11, 615206 (3)"	615206	"23561803, 23374270"
ENSG00000198331	HYLS1	610693	"Hydrolethalus syndrome, 236680 (3)"	236680	15843405
ENSG00000198336	MYL4	160770	"?Atrial fibrillation, familial, 18, 617280 (3)"	617280	27066836
ENSG00000198363	"ASPH, HAAH, FDLAB"	600582	"Traboulsi syndrome, 601552 (3)"	601552	24768550
ENSG00000198380	"GFPT1, GFAT1, GFPT1L, MSLG, CMS12, CMSTA1"	138292	"Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)"	610542	21310273
ENSG00000198400	"NTRK1, TRKA, MTC"	191315	"Medullary thyroid carcinoma, familial, 155240 (3)"	155240	10443680
ENSG00000198467	TPM2	190990	"Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)"	108120	12592607
ENSG00000198467	TPM2	190990	"CAP myopathy 2, 609285 (3)"	609285	11738357
ENSG00000198467	"TPM2, TMSB, AMCD1, DA1, DA2B, NEM4"	190990	"Nemaline myopathy 4, autosomal dominant, 609285 (3)"	609285	11738357
ENSG00000198513	"ATL1, SPG3A, HSN1D"	606439	"Neuropathy, hereditary sensory, type ID, 613708 (3)"	613708	21194679
ENSG00000198513	"ATL1, SPG3A, HSN1D"	606439	"Spastic paraplegia 3A, autosomal dominant, 182600 (3)"	182600	11685207
ENSG00000198515	"CNGA1, CNCG1, RP49"	123825	"Retinitis pigmentosa 49, 613756 (3)"	613756	7479749
ENSG00000198523	PLN	172405	"Cardiomyopathy, dilated, 1P, 609909 (3)"	609909	12610310
ENSG00000198569	SLC34A3	609826	"Hypophosphatemic rickets with hypercalciuria, 241530 (3)"	241530	16358214
ENSG00000198570	"RD3, LCA12, C1orf36"	180040	"Leber congenital amaurosis 12, 610612 (3)"	610612	17186464
ENSG00000198589	LRBA	606453	"Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)"	614700	22608502
ENSG00000198626	RYR2	180902	"Arrhythmogenic right ventricular dysplasia 2, 600996 (3)"	600996	11159936
ENSG00000198626	"RYR2, VTSIP, ARVD2, ARVC2"	180902	"Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)"	604772	11208676
ENSG00000198650	TAT	613018	"Tyrosinemia, type II, 276600 (3)"	276600	1357662
ENSG00000198668	"CALM1, PHKD, CPVT4, LQT14"	114180	"Long QT syndrome 14, 616247 (3)"	616247	23388215
ENSG00000198668	"CALM1, PHKD, CPVT4, LQT14"	114180	"Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)"	614916	23040497
ENSG00000198677	"TTC37, KIAA0372"	614589	"Trichohepatoenteric syndrome 1, 222470 (3)"	222470	20176027
ENSG00000198682	PAPSS2	603005	"Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)"	612847	9771708
ENSG00000198689	"SLC9A6, NHE6"	300231	"Mental retardation, X-linked syndromic, Christianson type, 300243 (3)"	300243	18342287
ENSG00000198690	FAN1	613534	"Interstitial nephritis, karyomegalic, 614817 (3)"	614817	22772369
ENSG00000198691	ABCA4	601691	"Cone-rod dystrophy 3, 604116 (3)"	604116	9466990
ENSG00000198691	ABCA4	601691	"Fundus flavimaculatus, 248200 (3)"	248200	"9781034, 8275096"
ENSG00000198691	"ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2"	601691	"{Macular degeneration, age-related, 2}, 153800 (3)"	153800	9295268
ENSG00000198691	"ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2"	601691	"Retinal dystrophy, early-onset severe, 248200 (3)"	248200	9054934
ENSG00000198691	"ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2"	601691	"Retinitis pigmentosa 19, 601718 (3)"	601718	9425888
ENSG00000198691	"ABCA4, ABCR, STGD1, FFM, RP19, CORD3, ARMD2"	601691	"Stargardt disease 1, 248200 (3)"	248200	9054934
ENSG00000198707	CEP290	610142	"?Bardet-Biedl syndrome 14, 615991 (3)"	615991	18327255
ENSG00000198707	CEP290	610142	"Joubert syndrome 5, 610188 (3)"	610188	16682973
ENSG00000198707	"CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14"	610142	"Leber congenital amaurosis 10, 611755 (3)"	611755	16909394
ENSG00000198707	"CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14"	610142	"Meckel syndrome 4, 611134 (3)"	611134	17564974
ENSG00000198707	"CEP290, KIAA0373, 3H11AG, JBTS5, SLSN6, LCA10, BBS14"	610142	"Senior-Loken syndrome 6, 610189 (3)"	610189	16682973
ENSG00000198732	"SMOC1, OAS"	608488	"Microphthalmia with limb anomalies, 206920 (3)"	206920	2119467
ENSG00000198734	F5	612309	"Factor V deficiency, 227400 (3)"	227400	9576178
ENSG00000198734	F5	612309	"{Budd-Chiari syndrome}, 600880 (3)"	600880	9245936
ENSG00000198734	"F5, THPH2, RPRGL1"	612309	"Thrombophilia due to activated protein C resistance, 188055 (3)"	188055	8164741
ENSG00000198793	"MTOR, FRAP1, SKS"	601231	"Smith-Kingsmore syndrome, 616638 (3)"	616638	25851998
ENSG00000198799	"LRIG2, LIG2, KIAA0806, UFS2"	608869	"Urofacial syndrome 2, 615112 (3)"	615112	23313374
ENSG00000198805	PNP	164050	"Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)"	613179	3029074
ENSG00000198807	"PAX9, STHAG3"	167416	"Tooth agenesis, selective, 3, 604625 (3)"	604625	10615120
ENSG00000198814	GK	300474	"Glycerol kinase deficiency, 307030 (3)"	307030	8651297
ENSG00000198821	CD247	186780	"?Immunodeficiency 25, 610163 (3)"	610163	16672702
ENSG00000198824	"CHAMP1, ZNF828, C13orf8, KIAA1802, MRD40"	616327	"Mental retardation, autosomal dominant 40, 616579 (3)"	616579	25533962
ENSG00000198835	"GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C"	608803	"Leukodystrophy, hypomyelinating, 2, 608804 (3)"	608804	15192806
ENSG00000198835	"GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C"	608803	"Lymphedema, hereditary, IC, 613480 (3)"	613480	20537300
ENSG00000198835	"GJC2, GJA12, CX47, PMLDAR, HLD2, SPG44, LMPH1C"	608803	"Spastic paraplegia 44, autosomal recessive, 613206 (3)"	613206	19056803
ENSG00000198836	OPA1	605290	"?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3)"	616896	26561570
ENSG00000198836	OPA1	605290	"Behr syndrome, 210000 (3)"	210000	25012220
ENSG00000198836	"OPA1, NTG, NPG, BERHS, MTDPS14"	605290	"Optic atrophy 1, 165500 (3)"	165500	"11017080, 11017079"
ENSG00000198836	"OPA1, NTG, NPG, BERHS, MTDPS14"	605290	"Optic atrophy plus syndrome, 125250 (3)"	125250	12566046
ENSG00000198860	"TSEN15, SEN15, C1orf19, PCH2F"	608756	"Pontocerebellar hypoplasia, type 2F, 617026 (3)"	617026	25558065
ENSG00000198910	L1CAM	308840	"CRASH syndrome, 303350 (3)"	303350	"7920659, 7920660"
ENSG00000198910	L1CAM	308840	"Corpus callosum, partial agenesis of, 304100 (3)"	304100	16650080
ENSG00000198910	"L1CAM, CAML1, HSAS1, MASA, SPG1"	308840	"MASA syndrome, 303350 (3)"	303350	1303258
ENSG00000198920	KIAA0753	617112	"?Orofaciodigital syndrome XV, 617127 (3)"	617127	26643951
ENSG00000198931	APRT	102600	"Adenine phosphoribosyltransferase deficiency, 614723 (3)"	614723	3680503
ENSG00000198947	DMD	300377	"Becker muscular dystrophy, 300376 (3)"	300376	3384440
ENSG00000198947	DMD	300377	"Cardiomyopathy, dilated, 3B, 302045 (3)"	302045	8361506
ENSG00000198947	DMD	300377	"Duchenne muscular dystrophy, 310200 (3)"	310200	3319190
ENSG00000198951	NAGA	104170	"Kanzaki disease, 609242 (3)"	609242	8040340
ENSG00000198951	NAGA	104170	"Kanzaki disease, 609242 (3)"	609242	8040340
ENSG00000198951	NAGA	104170	"Schindler disease, type I, 609241 (3)"	609241	2243144
ENSG00000198951	NAGA	104170	"Schindler disease, type III, 609241 (3)"	609241	8782044
ENSG00000198954	KIF1BP	609367	"Goldberg-Shprintzen megacolon syndrome, 609460 (3)"	609460	15883926
ENSG00000199158	MIR96	611606	"Deafness, autosomal dominant 50, 613074 (3)"	613074	19363479
ENSG00000200463	"SNORD118, LCC"	616663	"Leukoencephalopathy, brain calcifications, and cysts, 614561 (3)"	614561	27571260
ENSG00000203485	INF2	610982	"Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)"	614455	22187985
ENSG00000203485	INF2	610982	"Glomerulosclerosis, focal segmental, 5, 613237 (3)"	613237	20023659
ENSG00000203618	GP1BB	138720	"Bernard-Soulier syndrome, type B, 231200 (3)"	231200	2308962
ENSG00000203618	GP1BB	138720	"Giant platelet disorder, isolated, 231200 (3)"	231200	9116284
ENSG00000203667	"COX20, FAM36A"	614698	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	23125284
ENSG00000203747	FCGR3A	146740	"Immunodeficiency 20, 615707 (3)"	615707	8608639
ENSG00000203782	LOR	152445	"Vohwinkel syndrome with ichthyosis, 604117 (3)"	604117	8673107
ENSG00000203859	HSD3B2	613890	"Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, 201810 (3)"	201810	1363812
ENSG00000203867	RBM20	613171	"Cardiomyopathy, dilated, 1DD, 613172 (3)"	613172	19712804
ENSG00000203877	RIPPLY2	609891	"?Spondylocostal dysostosis 6, 616566 (3)"	616566	25343988
ENSG00000203879	"GDI1, RABGD1A, MRX41, MRX48"	300104	"Mental retardation, X-linked 41, 300849 (3)"	300849	9620768
ENSG00000203883	SOX18	601618	"Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)"	607823	12740761
ENSG00000203883	SOX18	601618	"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3)"	137940	12740761
ENSG00000203908	KHDC3L	611687	"Hydatidiform mole, recurrent, 2, 614293 (3)"	614293	21885028
ENSG00000204020	LIPN	613924	"Ichthyosis, congenital, autosomal recessive 8, 613943 (3)"	613943	21439540
ENSG00000204103	MAFB	608968	"Duane retraction syndrome 3, 617041 (3)"	617041	27181683
ENSG00000204103	"MAFB, KRML, MCTO, DURS3"	608968	"Multicentric carpotarsal osteolysis syndrome, 166300 (3)"	166300	22387013
ENSG00000204104	"TRAF3IP1, MIPT3, SLSN9"	607380	"Senior-Loken syndrome 9, 616629 (3)"	616629	26487268
ENSG00000204120	"GIGYF2, KIAA0642, PARK11"	612003	"{Parkinson disease 11}, 607688 (3)"	607688	18358451
ENSG00000204217	"BMPR2, PPH1, POVD1"	600799	"Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)"	178600	"10973254, 10903931"
ENSG00000204217	"BMPR2, PPH1, POVD1"	600799	"Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3)"	178600	12358323
ENSG00000204217	"BMPR2, PPH1, POVD1"	600799	"Pulmonary venoocclusive disease 1, 265450 (3)"	265450	12446270
ENSG00000204248	COL11A2	120290	"Deafness, autosomal dominant 13, 601868 (3)"	601868	10581026
ENSG00000204248	COL11A2	120290	"Deafness, autosomal recessive 53, 609706 (3)"	609706	16033917
ENSG00000204248	COL11A2	120290	"Fibrochondrogenesis 2, 614524 (3)"	614524	22246659
ENSG00000204264	PSMB8	177046	"Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)"	256040	21129723
ENSG00000204267	TAP2	170261	"Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)"	604571	7517574
ENSG00000204311	DFNB59	610219	"Deafness, autosomal recessive 59, 610220 (3)"	610220	17301963
ENSG00000204370	SDHD	602690	"Carcinoid tumors, intestinal, 114900 (3)"	114900	12007193
ENSG00000204370	SDHD	602690	"Cowden syndrome 3, 615106 (3)"	615106	18678321
ENSG00000204370	"SDHD, PGL1, CWS3"	602690	"Paraganglioma and gastric stromal sarcoma, 606864 (3)"	606864	17804857
ENSG00000204370	"SDHD, PGL1, CWS3"	602690	"Paragangliomas 1, with or without deafness, 168000 (3)"	168000	10657297
ENSG00000204370	"SDHD, PGL1, CWS3"	602690	"Pheochromocytoma, 171300 (3)"	171300	11156372
ENSG00000204406	"MBD5, KIAA1461, MRD1"	611472	"Mental retardation, autosomal dominant 1, 156200 (3)"	156200	17847001
ENSG00000204539	CDSN	602593	"Hypotrichosis 2, 146520 (3)"	146520	12754508
ENSG00000204655	MOG	159465	"?Narcolepsy 7, 614250 (3)"	614250	21907016
ENSG00000204815	TTC25	617095	"Ciliary dyskinesia, primary, 35, 617092 (3)"	617092	27486780
ENSG00000204842	"ATXN2, ATX2, SCA2, ASL13"	601517	"Spinocerebellar ataxia 2, 183090 (3)"	183090	8896555
ENSG00000204843	"DCTN1, HMN7B"	601143	"Neuropathy, distal hereditary motor, type VIIB, 607641 (3)"	607641	12627231
ENSG00000204843	"DCTN1, HMN7B"	601143	"Perry syndrome, 168605 (3)"	168605	19136952
ENSG00000204852	TCTN1	609863	"Joubert syndrome 13, 614173 (3)"	614173	21725307
ENSG00000204897	"KRT25, K25, KRT24IRS1, ARWH3"	616646	"Woolly hair, autosomal recessive 3, 616760 (3)"	616760	26160856
ENSG00000204922	UQCC3	616097	"?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3)"	616111	25008109
ENSG00000204928	GRXCR2	615762	"?Deafness, autosomal recessive 101, 615837 (3)"	615837	24619944
ENSG00000205084	TMEM231	614949	"Joubert syndrome 20, 614970 (3)"	614970	23012439
ENSG00000205084	"TMEM231, JBTS20, MKS11"	614949	"Meckel syndrome 11, 615397 (3)"	615397	23349226
ENSG00000205090	"TMEM240, C1orf70, SCA21"	616101	"Spinocerebellar ataxia 21, 607454 (3)"	607454	25070513
ENSG00000205138	SDHAF1	612848	"Mitochondrial complex II deficiency, 252011 (3)"	252011	19465911
ENSG00000205155	PSENEN	607632	"Acne inversa, familial, 2, 613736 (3)"	613736	20929727
ENSG00000205336	"ADGRG1, GPR56, TM7XN1, BFPP, BPPR"	604110	"Polymicrogyria, bilateral frontoparietal, 606854 (3)"	606854	15044805
ENSG00000205336	"ADGRG1, GPR56, TM7XN1, BFPP, BPPR"	604110	"Polymicrogyria, bilateral perisylvian, 615752 (3)"	615752	24531968
ENSG00000205403	CFI	217030	"Complement factor I deficiency, 610984 (3)"	610984	8613545
ENSG00000205413	"SAMD9, NFTC, MIRAGE"	610456	"MIRAGE syndrome, 617053 (3)"	617053	27182967
ENSG00000205413	"SAMD9, NFTC, MIRAGE"	610456	"Tumoral calcinosis, familial, normophosphatemic, 610455 (3)"	610455	16960814
ENSG00000205420	"KRT6A, PC3"	148041	"Pachyonychia congenita 3, 615726 (3)"	615726	7545493
ENSG00000205426	"KRT81, KRTHB1, HB1"	602153	"Monilethrix, 158000 (3)"	158000	25557232
ENSG00000205678	"TECRL, TERL, SRD5A2L2, GPSN2L, CPVT3"	617242	"Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)"	614021	27861123
ENSG00000205899	BHLHA9	615416	"?Camptosynpolydactyly, complex, 607539 (3)"	607539	27041388
ENSG00000205899	"BHLHA9, BHLHF42, MSSD, CCSPD"	615416	"Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)"	609432	25466284
ENSG00000205981	DNAJC19	608977	"3-methylglutaconic aciduria, type V, 610198 (3)"	610198	16055927
ENSG00000206013	"IFITM5, OI5"	614757	"Osteogenesis imperfecta, type V, 610967 (3)"	610967	22863190
ENSG00000206172	"HBA1, HBH"	141800	"Thalassemias, alpha-, 604131 (3)"	604131	909779
ENSG00000206561	"COLQ, EAD, CMS5"	603033	"Myasthenic syndrome, congenital, 5, 603034 (3)"	603034	9689136
ENSG00000207695	MIR184	613146	"EDICT syndrome, 614303 (3)"	614303	21996275
ENSG00000207935	MIR204	610942	"?Retinal dystrophy and iris coloboma with or without cataract, 616722 (3)"	616722	26056285
ENSG00000211592	IGKC	147200	"Kappa light chain deficiency, 614102 (3)"	614102	3931219
ENSG00000211592	"IGKC, IGKCD"	147200	"Kappa light chain deficiency, 614102 (3)"	614102	3931219
ENSG00000211899	IGHM	147020	"Agammaglobulinemia 1, 601495 (3)"	601495	8890099
ENSG00000213024	"NUP62, SNDI, IBSN"	605815	"Striatonigral degeneration, infantile, 271930 (3)"	271930	16786527
ENSG00000213123	"TCTEX1D2, SRTD17"	617353	"Short-rib thoracic dysplasia 17 with or without polydactyly, 617405 (3)"	617405	26044572
ENSG00000213139	CRYGS	123730	"Cataract 20, multiple types, 116100 (3)"	116100	16141006
ENSG00000213281	"NRAS, ALPS4, NS6, CMNS, NCMS"	164790	"Noonan syndrome 6, 613224 (3)"	613224	19966803
ENSG00000213316	LTC4S	246530	"Leukotriene C4 synthase deficiency, 614037 (1)"	614037	9820300
ENSG00000213341	CHUK	600664	"Cocoon syndrome, 613630 (3)"	613630	20961246
ENSG00000213380	COG8	606979	"Congenital disorder of glycosylation, type IIh, 611182 (3)"	611182	17220172
ENSG00000213398	LCAT	606967	"Fish-eye disease, 136120 (3)"	136120	6428166
ENSG00000213398	LCAT	606967	"Norum disease, 245900 (3)"	245900	3338256
ENSG00000213614	HEXA	606869	"GM2-gangliosidosis, several forms, 272800 (3)"	272800	2848800
ENSG00000213614	HEXA	606869	"[Hex A pseudodeficiency], 272800 (3)"	272800	2848800
ENSG00000213614	"HEXA, TSD"	606869	"Tay-Sachs disease, 272800 (3)"	272800	2848800
ENSG00000213619	NDUFS3	603846	"Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)"	256000	14729820
ENSG00000213619	NDUFS3	603846	"Mitochondrial complex I deficiency, 252010 (3)"	252010	14729820
ENSG00000213638	"ADAT3, TAD3, MRT36"	615302	"Mental retardation, autosomal recessive 36, 615286 (3)"	615286	23620220
ENSG00000213689	TREX1	606609	"Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)"	225750	16845398
ENSG00000213689	TREX1	606609	"Chilblain lupus, 610448 (3)"	610448	17357087
ENSG00000213689	"TREX1, AGS1, CRV, HERNS"	606609	"Vasculopathy, retinal, with cerebral leukodystrophy, 192315 (3)"	192315	17660820
ENSG00000213741	RPS29	603633	"Diamond-Blackfan anemia 13, 615909 (3)"	615909	24829207
ENSG00000213853	"EMP2, NPHS10"	602334	"Nephrotic syndrome, type 10, 615861 (3)"	615861	24814193
ENSG00000213892	CEACAM16	614591	"Deafness, autosomal dominant 4B, 614614 (3)"	614614	21368133
ENSG00000213930	GALT	606999	"Galactosemia, 230400 (3)"	230400	5289034
ENSG00000214113	LYRM4	613311	"?Combined oxidative phosphorylation deficiency 19, 615595 (3)"	615595	23814038
ENSG00000214140	"PRCD, RP36"	610598	"Retinitis pigmentosa 36, 610599 (3)"	610599	16938425
ENSG00000214160	ALG3	608750	"Congenital disorder of glycosylation, type Id, 601110 (3)"	601110	10581255
ENSG00000214274	ANG	105850	"Amyotrophic lateral sclerosis 9, 611895 (3)"	611895	15557516
ENSG00000214413	BBIP1	613605	"?Bardet-Biedl syndrome 18, 615995 (3)"	615995	24026985
ENSG00000214960	"ISPD, MDDGA7, MDDGC7"	614631	"Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)"	614643	22522420
ENSG00000214960	"ISPD, MDDGA7, MDDGC7"	614631	"Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)"	616052	23390185
ENSG00000215193	"PEX26, PBD7A, PBD7B"	608666	"Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)"	614872	12851857
ENSG00000215193	"PEX26, PBD7A, PBD7B"	608666	"Peroxisome biogenesis disorder 7B, 614873 (3)"	614873	12717447
ENSG00000215203	GRXCR1	613283	"Deafness, autosomal recessive 25, 613285 (3)"	613285	20137778
ENSG00000215301	"DDX3X, DDX3, DBX, MRX102"	300160	"Mental retardation, X-linked 102, 300958 (3)"	300958	26235985
ENSG00000215417	MIR17HG	609415	"Feingold syndrome 2, 614326 (3)"	614326	21892160
ENSG00000215612	"HMX1, H6"	142992	"Oculoauricular syndrome, 612109 (3)"	612109	18423520
ENSG00000218336	"TENM3, ODZ3, TNM3, KIAA1455, MCOPCB9"	610083	"Microphthalmia, isolated, with coloboma 9, 615145 (3)"	615145	22766609
ENSG00000221829	FANCG	602956	"Fanconi anemia, complementation group G, 614082 (3)"	614082	9806548
ENSG00000221838	"AP4M1, SPG50, CPSQ3"	602296	"Spastic paraplegia 50, autosomal recessive, 612936 (3)"	612936	19559397
ENSG00000223802	CERS1	606919	"?Epilepsy, progressive myoclonic, 8, 616230 (3)"	616230	24782409
ENSG00000223802	"GDF1, DTGA3, DORV, RAI"	602880	"Right atrial isomerism, 208530 (3)"	208530	20413652
ENSG00000223802	"GDF1, DTGA3, DORV, RAI"	602880	"Tetralogy of Fallot, 187500 (3)"	187500	20807224
ENSG00000223802	"GDF1, DTGA3, DORV, RAI"	602880	"Transposition of great arteries, dextro-looped 3, 613854 (3)"	613854	17924340
ENSG00000223953	"C1QTNF5, CTRP5, LORD"	608752	"Retinal degeneration, late-onset, autosomal dominant, 605670 (3)"	605670	12944416
ENSG00000224389	C4B	120820	"C4B deficiency, 614379 (3)"	614379	7451653
ENSG00000225614	ZNF469	612078	"Brittle cornea syndrome 1, 229200 (3)"	229200	18452888
ENSG00000225830	ERCC6	609413	"Cerebrooculofacioskeletal syndrome 1, 214150 (3)"	214150	10739753
ENSG00000225830	ERCC6	609413	"Cockayne syndrome, type B, 133540 (3)"	133540	9443879
ENSG00000225830	ERCC6	609413	"De Sanctis-Cacchione syndrome, 278800 (3)"	278800	10767341
ENSG00000225830	"ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11"	609413	"Premature ovarian failure 11, 616946 (3)"	616946	26218421
ENSG00000225830	"ERCC6, CKN2, COFS1, CSB, ARMD5, UVSS1, POF11"	609413	"UV-sensitive syndrome 1, 600630 (3)"	600630	15486090
ENSG00000227268	KLLN	612105	"Cowden syndrome 4, 615107 (3)"	615107	21177507
ENSG00000227315	"NEU1, NEU, SIAL1"	608272	"Sialidosis, type I, 256550 (3)"	256550	8985184
ENSG00000227315	"NEU1, NEU, SIAL1"	608272	"Sialidosis, type II, 256550 (3)"	256550	8985184
ENSG00000227801	"COL11A2, STL3, DFNA13, DFNB53, FBCG2"	120290	"Otospondylomegaepiphyseal dysplasia, 215150 (3)"	215150	7859284
ENSG00000227801	"COL11A2, STL3, DFNA13, DFNB53, FBCG2"	120290	"Stickler syndrome, type III, 184840 (3)"	184840	7859284
ENSG00000227801	"COL11A2, STL3, DFNA13, DFNB53, FBCG2"	120290	"Weissenbacher-Zweymuller syndrome, 277610 (3), now 184840"	184840	7859284
ENSG00000228716	DHFR	126060	"Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839 (3)"	613839	"21310276, 21310277"
ENSG00000229807	"XIC, XCE, XIST, SXI1"	314670	"X-inactivation, familial skewed, 300087 (3)"	300087	9354806
ENSG00000229833	"PET100, C19orf79"	614770	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	24462369
ENSG00000230223	"ATXN8OS, SCA8, KLHL1AS"	603680	"Spinocerebellar ataxia 8, 608768 (3)"	608768	10192387
ENSG00000231608	"TNXB, TNX, TNXB1, TNXBS, TNXB2, EDS3, VUR8"	600985	"Vesicoureteral reflux 8, 615963 (3)"	615963	23620400
ENSG00000231852	CYP21A2	613815	"Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)"	201910	1644925
ENSG00000231852	CYP21A2	613815	"Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)"	201910	paper says NO correlation
ENSG00000232575	"TUBB, TUBB5, M40, CDCBM6, CSCSC1"	191130	"Symmetric circumferential skin creases, congenital, 1, 156610 (3)"	156610	26637975
ENSG00000232616	"SKIV2L, SKI2, SKI2W, THES2"	600478	"Trichohepatoenteric syndrome 2, 614602 (3)"	614602	22444670
ENSG00000233276	GPX1	138320	"Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)"	614164	
ENSG00000233608	TWIST2	607556	"Ablepharon-macrostomia syndrome, 200110 (3)"	200110	26119818
ENSG00000233608	TWIST2	607556	"Barber-Say syndrome, 209885 (3)"	209885	26119818
ENSG00000233608	TWIST2	607556	"Focal facial dermal dysplasia 3, Setleis type, 227260 (3)"	227260	20691403
ENSG00000233927	RPS28	603685	"Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3)"	606164	24942156
ENSG00000234438	"KBTBD13, NEM6"	613727	"Nemaline myopathy 6, autosomal dominant, 609273 (3)"	609273	21109227
ENSG00000234906	APOC2	608083	"Hyperlipoproteinemia, type Ib, 207750 (3)"	207750	"3467353, 3225819"
ENSG00000235590	"GNASAS1, GNASAS, SANG, NESPAS"	610540	"Pseudohypoparathyroidism, type IB, 603233 (3)"	603233	15592469
ENSG00000235718	"MFRP, MCOP5, NNO2"	606227	"Microphthalmia, isolated 5, 611040 (3)"	611040	17167404
ENSG00000235718	"MFRP, MCOP5, NNO2"	606227	"Nanophthalmos 2, 609549 (3)"	609549	15976030
ENSG00000236320	SLFN14	614958	"Bleeding disorder, platelet-type, 20, 616913 (3)"	616913	26280575
ENSG00000237165	"CDSN, HTSS1, HYPT2, PSS1"	602593	"Peeling skin syndrome 1, 270300 (3)"	270300	20691404
ENSG00000237412	"PRSS56, MCOP6"	613858	"Microphthalmia, isolated 6, 613517 (3)"	613517	21397065
ENSG00000237693	"IRGM, LRG47, IFI1, IBD19"	608212	"{Inflammatory bowel disease (Crohn disease) 19}, 612278 (3)"	612278	21278745
ENSG00000239474	"KLHL41, KBTBD10, SARCOSIN, NEM9"	607701	"Nemaline myopathy 9, 615731 (3)"	615731	24268659
ENSG00000239672	"NME1, NM23"	156490	"Neuroblastoma, 256700 (3)"	256700	18334619
ENSG00000239900	ADSL	608222	"Adenylosuccinase deficiency, 103050 (3)"	103050	1302001
ENSG00000240505	TNFRSF13B	604907	"Immunodeficiency, common variable, 2, 240500 (3)"	240500	"16007086, 16007087"
ENSG00000241635	UGT1A1	191740	"Crigler-Najjar syndrome, type I, 218800 (3)"	218800	8276413
ENSG00000241635	UGT1A1	191740	"Crigler-Najjar syndrome, type II, 606785 (3)"	606785	8276413
ENSG00000241635	UGT1A1	191740	"Hyperbilirubinemia, familial transient neonatal, 237900 (3)"	237900	11061796
ENSG00000241935	HOGA1	613597	"Hyperoxaluria, primary, type III, 613616 (3)"	613616	20797690
ENSG00000241973	"PI4KA, PIK4CA, PMGYCHA"	600286	"Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)"	616531	25855803
ENSG00000242110	AMACR	604489	"Alpha-methylacyl-CoA racemase deficiency, 614307 (3)"	614307	10655068
ENSG00000242110	AMACR	604489	"Bile acid synthesis defect, congenital, 4, 214950 (3)"	214950	"10655068, 12512044"
ENSG00000242802	"AP5Z1, KIAA0415, SPG48"	613653	"Spastic paraplegia 48, autosomal recessive, 613647 (3)"	613647	20613862
ENSG00000242866	STRC	606440	"Deafness, autosomal recessive 16, 603720 (3)"	603720	11687802
ENSG00000243335	KCTD7	611725	"Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)"	611726	17455289
ENSG00000243646	IL10RB	123889	"Inflammatory bowel disease 25, early onset, autosomal recessive, 612567 (3)"	612567	19890111
ENSG00000243649	CFB	138470	"?Complement factor B deficiency, 615561 (3)"	615561	24152280
ENSG00000243989	ACY1	104620	"Aminoacylase 1 deficiency, 609924 (3)"	609924	16274666
ENSG00000244038	DDOST	602202	"?Congenital disorder of glycosylation, type Ir, 614507 (3)"	614507	22305527
ENSG00000244045	TMEM199	616815	"Congenital disorder of glycosylation, type IIp, 616829 (3)"	616829	26833330
ENSG00000244486	"SCARF2, SREC2, VDEGS"	613619	"Van den Ende-Gupta syndrome, 600920 (3)"	600920	20887961
ENSG00000244731	C4A	120810	"C4a deficiency, 614380 (3)"	614380	7451653
ENSG00000244734	HBB	141900	"Delta-beta thalassemia, 141749 (3)"	141749	6179097
ENSG00000244734	HBB	141900	"Hereditary persistence of fetal hemoglobin, 141749 (3)"	141749	1186896
ENSG00000244734	HBB	141900	"Sickle cell anemia, 603903 (3)"	603903	"49057, 78154"
ENSG00000244734	HBB	141900	"Thalassemia-beta, dominant inclusion-body, 603902 (3)"	603902	2563949
ENSG00000244734	HBB	141900	"Thalassemias, beta-, 613985 (3)"	613985	287080
ENSG00000244752	CRYBB2	123620	"Cataract 3, multiple types, 601547 (3)"	601547	9158139
ENSG00000247626	MARS2	609728	"?Combined oxidative phosphorylation deficiency 25, 616430 (3)"	616430	25754315
ENSG00000247626	"MARS2, SPAX3, COXPD25"	609728	"Spastic ataxia 3, autosomal recessive, 611390 (3)"	611390	22448145
ENSG00000248098	"BCKDHA, MSUD1"	608348	"Maple syrup urine disease, type Ia, 248600 (3)"	248600	2703538
ENSG00000250479	CHCHD10	615903	"?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3)"	616209	25193783
ENSG00000250479	CHCHD10	615903	"Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3)"	615911	24934289
ENSG00000250479	"CHCHD10, FTDALS2, SMAJ, IMMD"	615903	"Spinal muscular atrophy, Jokela type, 615048 (3)"	615048	22535186
ENSG00000251322	SHANK3	606230	"Phelan-McDermid syndrome, 606232 (3)"	606232	16284256
ENSG00000253710	ALG11	613666	"Congenital disorder of glycosylation, type Ip, 613661 (3)"	613661	20080937
ENSG00000253729	PRKDC	600899	"Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)"	615966	19075392
ENSG00000254585	"MAGEL2, NDNL1, SHFYNG"	605283	"Schaaf-Yang syndrome, 615547 (3)"	615547	24076603
ENSG00000254636	"LOC387715, ARMD8"	611313	"{Macular degeneration, age-related, 8}, 613778 (3)"	613778	16174643
ENSG00000254647	INS	176730	"Diabetes mellitus, insulin-dependent, 2, 125852 (3)"	125852	18192540
ENSG00000254647	INS	176730	"Hyperproinsulinemia, 616214 (3)"	616214	381941
ENSG00000254647	"INS, MODY10, IDDM2"	176730	"Maturity-onset diabetes of the young, type 10, 613370 (3)"	613370	18162506
ENSG00000255072	PIGY	610662	"Hyperphosphatasia with mental retardation syndrome 6, 616809 (3)"	616809	26293662
ENSG00000255974	CYP2A6	122720	"Coumarin resistance, 122700 (3)"	122700	14656880
ENSG00000256053	"APOPT1, APOP"	616003	"Mitochondrial complex IV deficiency, 220110 (3)"	220110	25175347
ENSG00000256061	DNAAF4	608706	"Ciliary dyskinesia, primary, 25, 615482 (3)"	615482	23872636
ENSG00000256269	"HMBS, PBGD, UPS"	609806	"Porphyria, acute intermittent, 176000 (3)"	176000	2563167
ENSG00000256269	"HMBS, PBGD, UPS"	609806	"Porphyria, acute intermittent, nonerythroid variant, 176000 (3)"	176000	2563167
ENSG00000256525	"POLG2, POLGB, PEOA4"	604983	"Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)"	610131	16685652
ENSG00000257017	HP	140100	"[Anhaptoglobinemia], 614081 (3)"	614081	9463309
ENSG00000257017	HP	140100	"[Hypohaptoglobinemia], 614081 (3)"	614081	9463309
ENSG00000258366	RTEL1	608833	"Dyskeratosis congenita, autosomal dominant 4, 615190 (3)"	615190	23453664
ENSG00000258366	RTEL1	608833	"Dyskeratosis congenita, autosomal recessive 5, 615190 (3)"	615190	23453664
ENSG00000258366	"RTEL1, C20orf41, NHL, KIAA1088, DKCB5, DKCA4, PFBMFT3"	608833	"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, 616373 (3)"	616373	25848748
ENSG00000258947	TUBB3	602661	"Cortical dysplasia, complex, with other brain malformations 1, 614039 (3)"	614039	20829227
ENSG00000258947	TUBB3	602661	"Fibrosis of extraocular muscles, congenital, 3A, 600638 (3)"	600638	20074521
ENSG00000259384	GH1	139250	"Growth hormone deficiency, isolated, type IA, 262400 (3)"	262400	8288694
ENSG00000259384	GH1	139250	"Growth hormone deficiency, isolated, type II, 173100 (3)"	173100	8288694
ENSG00000259384	"GH1, GHN, IGHD1B"	139250	"Kowarski syndrome, 262650 (3)"	262650	8552145
ENSG00000260230	FRRS1L	604574	"Epileptic encephalopathy, early infantile, 37, 616981 (3)"	616981	27236917
ENSG00000261456	"TUBB8, OOMD2"	616768	"Oocyte maturation defect 2, 616780 (3)"	616780	26789871
ENSG00000261609	GAN	605379	"Giant axonal neuropathy-1, 256850 (3)"	256850	11062483
ENSG00000262327	"AGK, MULK, MTDPS10, CATC5, CTRCT38"	610345	"Sengers syndrome, 212350 (3)"	212350	22277967
ENSG00000262418	"PTPRC, CD45, LCA"	151460	"Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, 608971 (3)"	608971	11145714
ENSG00000262919	"FAM58A, STAR"	300708	"STAR syndrome, 300707 (3)"	300707	18297069
ENSG00000263243	KRT12	601687	"Meesmann corneal dystrophy, 122100 (3)"	122100	9171831
ENSG00000263761	"GDF2, BMP9, HHT5"	605120	"Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3)"	615506	23972370
ENSG00000264229	"RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN"	601428	"Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)"	210710	21474760
ENSG00000264229	"RNU4ATAC, U4ATAC, MOPD1, TALS, RFMN"	601428	"Roifman syndrome, 616651 (3)"	616651	26522830
ENSG00000265107	GJA5	121013	"Atrial fibrillation, familial, 11, 614049 (3)"	614049	16790700
ENSG00000265107	GJA5	121013	"Atrial standstill, digenic (GJA5/SCN5A), 108770 (3)"	108770	12522116
ENSG00000265203	RBP3	180290	"?Retinitis pigmentosa 66, 615233 (3)"	615233	19074801
ENSG00000265241	"RBM8A, RBM8B, TAR, C1DELq21.1, DEL1q21.1"	605313	"Thrombocytopenia-absent radius syndrome, 274000 (3)"	274000	17236129
ENSG00000266173	"STRADA, STRAD, LYK5"	608626	"Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3)"	611087	17522105
ENSG00000267534	S1PR2	605111	"Deafness, autosomal recessive 68, 610419 (3)"	610419	26805784
ENSG00000269058	CALR3	611414	"?Cardiomyopathy, hypertrophic, 19, 613875 (3)"	613875	17655857
ENSG00000269335	IKBKG	300248	"Ectodermal dysplasia, hypohidrotic, with immune deficiency, 300291 (3)"	300291	11047757
ENSG00000269335	IKBKG	300248	"Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)"	300301	11242109
ENSG00000269335	IKBKG	300248	"Immunodeficiency 33, 300636 (3)"	300636	16818673
ENSG00000269335	IKBKG	300248	"Immunodeficiency, isolated, 300584 (3)"	300584	15356572
ENSG00000269335	IKBKG	300248	"Incontinentia pigmenti, 308300 (3)"	308300	10839543
ENSG00000269335	IKBKG	300248	"Invasive pneumococcal disease, recurrent isolated, 2, 300640 (3)"	300640	16950813
ENSG00000269900	"RMRP, RMRPR, CHH"	157660	"Metaphyseal dysplasia without hypotrichosis, 250460 (3)"	250460	11940090
ENSG00000270141	TERC	602322	"Dyskeratosis congenita, autosomal dominant 1, 127550 (3)"	127550	11574891
ENSG00000270141	TERC	602322	"{Aplastic anemia}, 614743 (3)"	614743	9572992
ENSG00000272047	"GTF2H5, TTD3, TFB5, C6orf175, TTDA"	608780	"Trichothiodystrophy 3, photosensitive, 616395 (3)"	616395	15220921
ENSG00000272333	KMT2B	606834	"Dystonia 28, childhood-onset, 617284 (3)"	617284	27839873
ENSG00000273079	GRIN2B	138252	"Epileptic encephalopathy, early infantile, 27, 616139 (3)"	616139	24272827
ENSG00000273079	"GRIN2B, NMDAR2B, MRD6, EIEE27"	138252	"Mental retardation, autosomal dominant 6, 613970 (3)"	613970	20890276
ENSG00000273814	"OCLN, BLCPMG, PTORCH1"	602876	"Pseudo-TORCH syndrome 1, 251290 (3)"	251290	20727516
ENSG00000273820	"USP27X, USP22L, MRX105"	300975	"Mental retardation 105, 300984 (3)"	300984	25644381
ENSG00000274081	"PUF60, FIR, SIAHBP1, VRJS"	604819	"Verheij syndrome, 615583 (3)"	615583	24140112
ENSG00000274121	DISC2	606271	"Schizophrenia, 181500 (2)"	181500	10814723
ENSG00000274247	"PRSS1, TRY1"	276000	"Pancreatitis, hereditary, 167800 (3)"	167800	8841182
ENSG00000274286	ADRA2B	104260	"Epilepsy, myoclonic, familial adult, 2, 607876 (3)"	607876	24114805
ENSG00000274442	"PRPF8, PRPC8, RP13"	607300	"Retinitis pigmentosa 13, 600059 (3)"	600059	11468273
ENSG00000274636	"GLIS2, NPHP7"	608539	"Nephronophthisis 7, 611498 (3)"	611498	17618285
ENSG00000274829	"PARN, DAN, DKCB6, PFBMFT4"	604212	"Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3)"	616371	25848748
ENSG00000275118	"MBOAT7, BB1, LENG4, MRT57"	606048	"Mental retardation, autosomal recessive 57, 617188 (3)"	617188	27616480
ENSG00000275199	"AKT3, PKBG, MPPH2"	611223	"Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937 (3)"	615937	22729224
ENSG00000275349	"SMN1, SMA1, SMA2, SMA3, SMA4"	600354	"Spinal muscular atrophy-1, 253300 (3)"	253300	7813012
ENSG00000275349	"SMN1, SMA1, SMA2, SMA3, SMA4"	600354	"Spinal muscular atrophy-2, 253550 (3)"	253550	8782046
ENSG00000275349	"SMN1, SMA1, SMA2, SMA3, SMA4"	600354	"Spinal muscular atrophy-3, 253400 (3)"	253400	8782046
ENSG00000275349	"SMN1, SMA1, SMA2, SMA3, SMA4"	600354	"Spinal muscular atrophy-4, 271150 (3)"	271150	7658877
ENSG00000275885	"PRPF31, PRP31, RP11"	606419	"Retinitis pigmentosa 11, 600138 (3)"	600138	11545739
ENSG00000276045	ORAI1	610277	"Immunodeficiency 9, 612782 (3)"	612782	16582901
ENSG00000276045	"ORAI1, TMEM142A, CRACM1, IMD9, TAM2"	610277	"Myopathy, tubular aggregate, 2, 615883 (3)"	615883	24591628
ENSG00000276111	"SDCCAG8, CCCAP, SLSN7, BBS16"	613524	"Senior-Loken syndrome 7, 613615 (3)"	613615	20835237
ENSG00000276155	"MAPT, MTBT1, DDPAC, MSTD"	157140	"Pick disease, 172700 (3)"	172700	11601501
ENSG00000276155	"MAPT, MTBT1, DDPAC, MSTD"	157140	"Supranuclear palsy, progressive atypical, 260540 (3)"	260540	11220749
ENSG00000276155	"MAPT, MTBT1, DDPAC, MSTD"	157140	"Supranuclear palsy, progressive, 601104 (3)"	601104	9029080
ENSG00000276194	"HNF1B, TCF2, HNF2, MODY5, FJHN, HPC11"	189907	"Renal cysts and diabetes syndrome, 137920 (3)"	137920	9398836
ENSG00000276469	"GPR179, GPR158L, GPR158L1, CSNB1E"	614515	"Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)"	614565	22325361
ENSG00000276747	"PADI6, PREMBL2"	610363	"Preimplantation embryonic lethality 2, 617234 (3)"	617234	27545678
ENSG00000276802	"HERC2, SHEP1, MRT38"	605837	"Mental retardation, autosomal recessive 38, 615516 (3)"	615516	23065719
ENSG00000276996	"SLC6A3, DAT1, PKDYS"	126455	"Parkinsonism-dystonia, infantile, 613135 (3)"	613135	19478460
ENSG00000277027	RMRP	157660	"Anauxetic dysplasia, 607095 (3)"	607095	16252239
ENSG00000277027	RMRP	157660	"Cartilage-hair hypoplasia, 250250 (3)"	250250	11207361
ENSG00000277111	"PLEKHM1, AP162, KIAA0356, OPTB6"	611466	"Osteopetrosis, autosomal recessive 6, 611497 (3)"	611497	17404618
ENSG00000277161	PIGW	610275	"?Hyperphosphatasia with mental retardation syndrome 5, 616025 (3)"	616025	24367057
ENSG00000277494	GPIHBP1	612757	"Hyperlipoproteinemia, type 1D, 615947 (3)"	615947	17883852
ENSG00000277571	"ELANE, ELA2, SCN1"	130130	"Neutropenia, cyclic, 162800 (3)"	162800	10581030
ENSG00000277571	"ELANE, ELA2, SCN1"	130130	"Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)"	202700	11001877
ENSG00000277586	NEFL	162280	"Charcot-Marie-Tooth disease, type 1F, 607734 (3)"	607734	12566280
ENSG00000277586	NEFL	162280	"Charcot-Marie-Tooth disease, type 2E, 607684 (3)"	607684	10841809
ENSG00000277734	TRAC	186880	"Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)"	615387	21206088
ENSG00000277893	SRD5A2	607306	"Pseudovaginal perineoscrotal hypospadias, 264600 (3)"	264600	1944596
ENSG00000278540	ACACA	200350	"Acetyl-CoA carboxylase deficiency, 613933 (1)"	613933	6114432
ENSG00000278570	NR2E3	604485	"Enhanced S-cone syndrome, 268100 (3)"	268100	10655056
ENSG00000278570	"NR2E3, PNR, ESCS, RP37"	604485	"Retinitis pigmentosa 37, 611131 (3)"	611131	17564971
ENSG00000278728	"CNTNAP2, CASPR2, NRXN4, CDFE, AUTS15, PTHSL1"	604569	"Pitt-Hopkins like syndrome 1, 610042 (3)"	610042	19896112
ENSG00000280635	"PROP1, CPHD2"	601538	"Pituitary hormone deficiency, combined, 2, 262600 (3)"	262600	9462743
ENSG00000281151	"KCNQ2, EBN1, EIEE7, BFNS1"	602235	"Myokymia, 121200 (3)"	121200	9430594
ENSG00000281151	"KCNQ2, EBN1, EIEE7, BFNS1"	602235	"Seizures, benign neonatal, 1, 121200 (3)"	121200	9430594
ENSG00000282228	"PAM16, MAGMAS, SMDMDM"	614336	"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3)"	613320	24786642
ENSG00000282307	"SERPINF1, PEDF, OI6"	172860	"Osteogenesis imperfecta, type VI, 613982 (3)"	613982	21353196
ENSG00000284194	"SCO2, CEMCOX1, MYP6"	604272	"Myopia 6, 608908 (3)"	608908	23643385
ENSG00000284547	MIR2861	613405	"[Bone mineral density QTL 15], 613418 (3)"	613418	19920351
	ATXN8	613289	"Spinocerebellar ataxia 8, 608768 (3)"	608768	16804541
	"DHS6S1, MCDR1"	616842	"Macular dystrophy, North Carolina type, 136550 (3)"	136550	26507665
	MBCS	617352	"Mulchandani-Bhoj-Conlin syndrome, 617352 (3)"	617352	26248010