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Table_2 8
u k
Symbol Descriptions
Chr Disorder/Disease Function Pathway ABCA9 ATP-binding cassette A9 17 Pseudoxanthoma elasticum+ Monocyte differentiation; Lipid homeostasis ABC transporters ADCK3 aarF domain containing kinase 3 1 Spinocerebellar ataxia( Protein serine/threonine kinase activity ANKRD35+ Ankyrin repeat domain-containing protein 35 Protein binding CAD CAD trifunctional protein 2 Fibrosarcoma' Aspartate carbamoyltransferase activityW Pyrimidine metabolism; Transcription/Ligand-dependent activation of the ESR1/SP pathway CDC27 cell division cycle 27 Cell cycle checkpoint( Cell cycle_Regulation of G1/S transition DPRX! Divergent-paired related homeobox 19) Sequence-specific DNA binding TF activity FRG2C# FSHD region gene 2 family, member C 3 GIMAP6 GTPase, IMAP family member 6 7 GTP binding HSPBAP1. 27 kDa heat shock protein-associated protein 1% Intractable epilepsy; Renal carcinoma Cellular stress response HTR2C 5-hydroxytryptamine receptor 1C XW Schizophrenia; Migraine; Prader-Willi syndrome; Attention deficit hyperactivity disease- Phosphatidylinositol phospholipase C activityB Calcium signaling pathway; Neuroactive ligand-receptor interaction KBTBD3) BTB and kelch domain-containing protein 3 11 KRTAP2-2 Keratin-associated protein 2.2 Keratin filament MLL3 Myeloid/lymphoid leukemia3 Leukemia Methyltransferase activity Lysine degradation MYT1 Myelin transcription factor I 20D Dysembryoplastic neuroepithelial tumor; Periventricular leukomalacia# Oligodendrocyte lineage development PCNT Pericentrin 21 Seckel syndrome; Microcephaly" M transition of mitotic cell cycle Centrosome maturation PPP2R2B+ Protein phosphatase 2, regulatory subunit B 5 Apoptotic processB mRNA surveillance pathway; Tight junction; Reg'n. of CFTR activity PROSER1 Proline and serine rich 1 13 TBCK TBC1 domain containing kinase 4 TCP10L2 T-complex 10 like prtn. 2 6 Spina bifida Cytosol TECTA Tectorin alpha: Nonsyndromic deafness; Scotoma; Sensorineural hearing loss Cell-matrix adhesion TFAP2B Transcription factor AP-2 beta2 Patent ductus arteriosus; Skeletal muscle neoplasm, Cellular ammonia/urea/creatinine homeostasis XIAP' X-linked inhibitor of apoptosis protein Leukemia; Lymphoma, Caspases, apoptosis regulation; inflammation7 Ubiquitin mediated proteolysis; SMAC-mediated apoptosis ZNF778 Zinc finger protein 778 16! KBG syndrome; Learning disability Zinc ion binding
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