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Results for C in English, page 153
Caused by mutation in the homolog of the drosophila muscle segment homeo box-2 gene (MSX2, {123101.0002})
Caused by mutation in the homolog of the E. coli DNAJ subfamily C member 19 gene (DNAJC19, {608977.0001})
Caused by mutation in the homolog of the E. coli mutL 1 gene (MLH1, {120436.0003})
Caused by mutation in the homolog of the E. coli mutL 1 gene (MLH1, {120436.0006})
Caused by mutation in the homolog of the E. coli mutS 2 gene (MSH2, {120435.0006})
Caused by mutation in the homolog of the E. coli mutS 2 gene (MSH2, {609309.0014})
Caused by mutation in the homolog of the E. coli mutS 6 gene (MSH6, {600678.0012})
Caused by mutation in the homolog of the mouse aristaless-like 4 gene (ALX4, {605420.0001}).
Caused by mutation in the homolog of the mouse limb region 1 gene (LMBR1, {605522.0001})
Caused by mutation in the homolog of the mouse monogenic audiogenic seizure susceptibility-1 gene (MASS1, {602851.0002})
Caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (MASS1, {602851.0001})
Caused by mutation in the homolog of the mouse Mpv17 gene (MPV17, {137960.0001})
Caused by mutation in the homolog of the mouse Noggin gene (NOG, {602991.0001})
Caused by mutation in the homolog of the mouse Noggin gene (NOG, {602991.0003})
Caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (STRA6, {610745.0007})
Caused by mutation in the homolog of the S. cerevisiae ALG3 gene (ALG3, {608750.0001})
Caused by mutation in the homolog of the S. cerevisiae Alg6 gene (ALG6, {604566.0001})
Caused by mutation in the homolog of the S. cerevisiae postmeiotic segregation increased 2 gene (PMS2, {600259.0001})
Caused by mutation in the homolog of the S. cerevisiae SCO1 gene (SCO1, {603644.0001})
Caused by mutation in the homolog of the S. cerevisiae SCO2 gene (SCO2, {604272.0001})
Caused by mutation in the HSN2 isoform of the protein kinase, lysine-deficient 1 gene (WNK1, {605232.0003})
Caused by mutation in the human homolog A of the S. cerevisiae SEC23 gene (SEC23A, {610511.0001})
Caused by mutation in the human homolog of the Drosophila 'patched' gene 1 (PTCH1, {601309.0001})
Caused by mutation in the human homolog of the Drosophila 'patched' gene 2 (PTCH2, {603673.0003})
Caused by mutation in the human homolog of the mouse noggin gene (NOG, {602991.0012})
Caused by mutation in the HYLS1 gene (HYLS1, {610693.0001})
Caused by mutation in the hypocretin gene (HCRT, {602358.0001})
Caused by mutation in the hypoxanthine phosphoribosyltransferase gene (HPRT1, {308000.0001})
Caused by mutation in the IL1 receptor accessory protein-like 1 gene (IL1RAPL, {300206.0001})
Caused by mutation in the immunoglobulin mu binding protein 2 gene (IGHMBP2, {600502.0001})
Caused by mutation in the immunoglobulin-binding protein-1 gene (IGBP1, {300139.0001})
Caused by mutation in the Indian hedgehog gene (IHH, {600726.0005})
Caused by mutation in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein gene (IKBKAP, {603722.0001})
Caused by mutation in the insulin receptor gene (INSR, {147670.0002})
Caused by mutation in the insulin receptor gene (INSR, {147670.0012})
Caused by mutation in the insulin receptor gene (INSR, {147670.0037})
Caused by mutation in the insulin-like growth factor-1 gene (IGF1, {147440.0001})
Caused by mutation in the insulin-like growth factor-1 receptor gene (IGF1R, {147370.0001})
Caused by mutation in the integrin-alpha-6 gene (ITGA6, {147556.0001})
Caused by mutation in the integrin-beta-4 gene (ITGB4, {147557.0001})
Caused by mutation in the integrin, alpha-2b gene (ITGA2B, {607759.0002})
Caused by mutation in the integrin, beta-3 gene (ITGB3, {173470.0001})
Caused by mutation in the intestinal sodium/glucose transporter gene (SLC5A1, {182380.0001}).
Caused by mutation in the intestinal zinc-specific transporter gene (SLC39A4, {607059.0001})
Caused by mutation in the intrinsic factor-vitamin B12 receptor gene (CUBN, {602997.0001})
Caused by mutation in the IQ motif-containing protein B1 gene (IQCB1, {609237.0001})
Caused by mutation in the ISK-related voltage-gated potassium channel gene (KCNE3, {604433.0001})
Caused by mutation in the isovaleryl Co-A dehydrogenase gene (IVD, {607036.0001}).
Caused by mutation in the jagged 1 gene (JAG1, {601920.0001})
Caused by mutation in the janus kinase 2 gene (JAK2, {147796})
Caused by mutation in the Jumonji, AT-rich interactive domain 1C gene gene (JARID1C, {314690.0001})
Caused by mutation in the junction plakoglobin gene (JUP, {173325.0002}).
Caused by mutation in the keratin 1 gene (KRT1, {139350.0005})
Caused by mutation in the keratin 10 gene (KRT10, {148080.0014})
Caused by mutation in the keratin 16 gene (KRT16, {148067.0001})
Caused by mutation in the keratin 5 gene (KRT5, {148040.0018})
Caused by mutation in the keratin 6A gene (KRT6A, {148041.0001})
Caused by mutation in the keratin-14 gene (KRT14, 148066.0016})
Caused by mutation in the keratin-5 gene (KRT5, {148040.0009})
Caused by mutation in the KIAA1279 gene (KIAA1279, {609367.0001})
Caused by mutation in the kidney chloride channel B gene (CLCNKB, {602023.0001})
Caused by mutation in the kinesin family member 1B gene (KIF1B, {605995.0001})
Caused by mutation in the kinesin family member 21A gene (KIF21A, {608283.0001})
Caused by mutation in the kinesin-5A gene (KIF5A, {602821.0001})
Caused by mutation in the klotho gene (KL, {604824.0002})
Caused by mutation in the Krev interaction trapped 1 gene (KRIT1 {604214.0001}).
Caused by mutation in the L-2-hydroxyglutarate dehydrogenase gene (L2HGDH, {609584.0001})
Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase gene (HAD, {601609.0001}).
Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase, short chain gene (HADHSC, {601609.0003})
Caused by mutation in the L1 cell adhesion molecule gene (L1CAM, {308840.0004})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0003})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0017})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0020})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0021})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0022})
Caused by mutation in the lamin A/C gene (LMNA, {150330.0040})
Caused by mutation in the lamin B receptor (LBR, {600024.0003})
Caused by mutation in the laminin A/C gene (LMNA, {150330.0014})
Caused by mutation in the laminin alpha-3 gene (LAMA3, {600805.0001})
Caused by mutation in the laminin beta-2 gene (LAMB2, {150325.0001})
Caused by mutation in the laminin beta-3 gene (LAMB3, {150310.0001})
Caused by mutation in the laminin gamma-2 gene (LAMC2, {150292.0001})
Caused by mutation in the leucine- and proline-enriched proteoglycan 1 gene (LEPRE1, {610339.0001})
Caused by mutation in the leucine-rich PPR motif-containing protein gene (LRPPRC, {607544.0001})
Caused by mutation in the leucine-rich repeat kinase 2 gene (LRRK2, {609007.0001})
Caused by mutation in the light polypeptide neurofilament protein gene (NEFL, {162280.0001})
Caused by mutation in the lim domain-binding 3 gene (LDB3, {605906.0001})
Caused by mutation in the lipin 1 gene (LPIN1, {605518.0001})
Caused by mutation in the lipopolysaccharide-induced tumor necrosis factor-alpha factor gene (LITAF, {603795.0001})
Caused by mutation in the LMBR1 domain-containing protein 1 gene (LMBRD1, {612625.0001}).
Caused by mutation in the long-chain acyl-CoA dehydrogenase gene (ACALD, {609576.0001})
Caused by mutation in the loricrin gene (LOR, {152445.0002})
Caused by mutation in the low density lipoprotein receptor-related protein 2 gene (LRP2, {600073.0001})
Caused by mutation in the low density lipoprotein receptor-related protein 5 gene (LRP5, {603506.0015})
Caused by mutation in the low density lipoprotein receptor-related protein-5 gene (LRP5, {603506.0020})
Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, {603506.0013})
Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, {603506.0014})
Caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (LRP5, {603506.0015})
Caused by mutation in the lysosome associated membrane protein-2 gene (LAMP2, {309060.0001})
Caused by mutation in the MADS box transcription enhancer factor 2, polypeptide A gene (MEF2A, {600660.0001})
Caused by mutation in the magnesium-dependent protein phosphatase 2C gene (PPM2C, {605993.0001}).
Caused by mutation in the major facilitator superfamily domain-containing protein-8 gene (MFSD8, {611124.0001})
Caused by mutation in the mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase gene (MGAT2, {602616.0001})
Caused by mutation in the matrilin 3 gene (MATN3, {602109.0001})
Caused by mutation in the matrix Gla protein gene (MGP, {154870.0001})
Caused by mutation in the matrix metalloproteinase-13 gene (MMP13, {600108.0001}).
Caused by mutation in the melanocortin-2 receptor accessory protein gene (MRAP, {609196.0001})
Caused by mutation in the melanocortin-2 receptor gene (MC2R, {607397.0001})
Caused by mutation in the melanophilin gene (MLPH, {606526.0001})
Caused by mutation in the membrane cofactor protein gene (MCP, {120920.0001})
Caused by mutation in the membrane-type frizzled-related protein gene (MFRP, {606227.0005})
Caused by mutation in the methionine adenosyltransferase 1 gene (MAT1A, {610550.0001})
Caused by mutation in the methyl-CpG-binding domain protein 5 gene (MBD5, {611472.0001})
Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, {300005.0003})
Caused by mutation in the methyl-CpG-binding protein 2 gene (MECP2, {300005.0009}).
Caused by mutation in the methylmalonyl-CoA epimerase gene (MCEE, 608419.0001})
Caused by mutation in the mevalonate kinase gene (MVK, {251170.0001})
Caused by mutation in the MHC class II transactivator gene (MHC2TA, {600005.0001})
Caused by mutation in the microcephalin gene (MCPH1, {607117.0001})
Caused by mutation in the microtuble-associated protein tau gene (MAPT, {157140.0019})
Caused by mutation in the microtubule-associated tau protein gene (MAPT, {157140.0001})
Caused by mutation in the microtubule-associated tau protein gene (MAPT, {157140.0011})
Caused by mutation in the mitochondial tRNA-serine 2 gene (MTTS2, 590085.0002})
Caused by mutation in the mitochondrial acetoacetyl-CoA thiolase gene (ACAT1, {607809.0001})
Caused by mutation in the mitochondrial complex I, subunit ND1 gene (MTND1, {516000.0012})
Caused by mutation in the mitochondrial complex I, subunit ND4 gene (MTND4, {516003.0003})
Caused by mutation in the mitochondrial complex I, subunit ND6 gene (MTND6, {516006.0002})
Caused by mutation in the mitochondrial elongation factor G1 gene (GFM1, {606639.0001})
Caused by mutation in the mitochondrial ribosomal protein S16 (MRPS16, {609204.0001})
Caused by mutation in the mitochondrial ribosomal protein S22 gene (MRPS22, {605810.0001})
Caused by mutation in the mitochondrial RNA-processing endoribonuclease gene (RMRP, {157660.0009})
Caused by mutation in the mitochondrial transfer RNA, mitochondrial, serine, 1 gene (MTTS1, {590080.0002})
Caused by mutation in the mitochondrial tRNA (leucine)-1 gene (MTTL1, {590050.0011})
Caused by mutation in the mitochondrial tRNA (lysine) gene (MTTK, {590060.0001})
Caused by mutation in the mitochondrial tRNA (valine) gene (MTTV, {590105.0002})
Caused by mutation in the mitochondrial tRNA lysine 1 gene (MTTL1, {590050.0001})
Caused by mutation in the mitochondrial tRNA serine 1 gene (MTTS1, {590080.0003})
Caused by mutation in the mitochondrial tRNA-glutamic acid gene (MTTE, {590025.0001})
Caused by mutation in the mitochondrial Ts elongation factor gene (TSFM, {604723.0001})
Caused by mutation in the mitochondrial-encoded ATP synthase 6 gene (MTATP6, {516060.0005})
Caused by mutation in the mitochondrial-encoded cytochrome b subunit gene (MTCYB, {516020.0001})
Caused by mutation in the mitofusin 2 gene (MFN2, {608507.00001})
Caused by mutation in the mitogen-activated protein kinase kinase 1 gene (MAP2K1, {176872.0001})
Caused by mutation in the mitogen-activated protein kinase kinase 1 gene (MAP2K2, {601263.0001})
Caused by mutation in the MKKS gene (MKKS, {604896.0001})
Caused by mutation in the MKKS gene (MKKS, {604896.0003})
Caused by mutation in the MKS1 gene (MKS1, {609883.0001})
Caused by mutation in the MLC1 gene (MLC1, {605908.0001})
Caused by mutation in the MMAA gene (MMAA, {607481.0001})
Caused by mutation in the MMAB gene (MMAB, {607568.0001})
Caused by mutation in the monocarboxylate transporter 8 gene (MCT8, {300095.0001})
Caused by mutation in the muscle phosphofructokinase gene (PFKM, {610681.0001})
Caused by mutation in the MYC-induced mitochondrial protein gene (MMTN
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0001})
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0004})
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0013})
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0017})
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0018})
Caused by mutation in the myelin protein zero gene (MPZ, {159440.0021})
Caused by mutation in the myeloproliferative leukemia virus oncogene/thrombopoietin receptor gene (MPL, {159530.0010}
Caused by mutation in the myofibrillogenesis regulator 1 gene (MR1, {609023.0001})
Caused by mutation in the myogenic factor-6 gene (MYF6, {159991.0001}).
Caused by mutation in the myosin 5a gene (MYO5A, {160777.0004})
Caused by mutation in the myosin heavy chain 3 gene (MYH3, {160720.0005})
Caused by mutation in the myosin VIIA gene (MYO7A, {276903.0001})
Caused by mutation in the myosin VIIA gene (MYO7A, {276903.0007}).
Caused by mutation in the myosin VIIA gene (MYO7A, {276903.0011})
Caused by mutation in the myosin, heavy chain 14, nonmuscle gene (MYH14, {608568.0001})
Caused by mutation in the myosin, heavy chain 9, non-muscle gene (MYH9, {160775.0005})
Caused by mutation in the myosin, heavy chain 9, nonmuscle gene (MYH9, {160775.0008})
Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, {160775.0001})
Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, {160775.0006})
Caused by mutation in the myotilin gene (TTID, {604103.0001})
Caused by mutation in the myotubularin-related protein-2 gene (MTMR2, {603557.0001})
Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, {607840.0001})
Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, {607840.0003})
Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, gamma subunit gene (GNPTG, {607838.0001})
Caused by mutation in the N-acetylglutamate synthase gene (NAGS, {608300.0001})
Caused by mutation in the N-myc downstream regulated gene-1 (NDRG1, {605262.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 gene (NDUFA1, {300078.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 gene (NDUFA2, {602137.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 1 gene (NDUFS1, {157655.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 1 gene (NDUFV1, {161015.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 2 gene (NDUFS2, {602985.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 3 gene (NDUFS3, {603846.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 3 gene (NDUFV3, {603846.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 gene (NDUFS4, {602694.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 4 gene (NDUFS4, {602694.0004})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 6 gene (NDUFS6, {603848.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 7 gene (NDUFS7, {601825.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) Fe-S protein 8 gene (NDUFS8, {602141.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) flavoprotein 1 gene (NDUFV1, {161015.0001})
Caused by mutation in the NADH dehydrogenase (ubiquinone) flavoprotein 2 gene (NDUFV2, {600532.0001})
Caused by mutation in the NADH dehydrogenase, subunit 2 gene (MTND2, {516001.0006})
Caused by mutation in the NADH dehydrogenase, subunit 3 gene (MTND3, {516002.0003})
Caused by mutation in the NADH dehydrogenase, subunit 5 gene (MTND5, {516005.0003})
Caused by mutation in the NADH dehydrogenase, subunit 6 gene (MTND6, {516006.0002})
Caused by mutation in the NADH-dehydrogenase 1 alpha subcomplex 11 gene (NDUFA11, {612638.0001})
Caused by mutation in the natriuretic peptide precursor A gene (NPPA, {108780.0001})
Caused by mutation in the natriuretic peptide receptor B gene (NPR2, {108961.0001})
Caused by mutation in the nebulin gene (NEB, {160650.0001})
Caused by mutation in the nephrocystin 1 gene (NPHP1, {607100.0001})
Caused by mutation in the nephrocystin 3 gene (NPHP3, {608002.0001})
Caused by mutation in the nephrocystin 3 gene (NPHP3, {608002.0004}).
Caused by mutation in the nephrocystin 4 gene (NPHP4, {607215.0001})
Caused by mutation in the nephrocystin 4 gene (NPHP4, {607215.0006})
Caused by mutation in the nephrocystin gene (NPHP1, {607100.0005})
Caused by mutation in the nerve growth factor-beta gene (NGFB, {162030.0001})
Caused by mutation in the neuraminidase 1 gene (NEU1, {608272.0001})
Caused by mutation in the neurofibromin gene (NF1, {162200.0018})
Caused by mutation in the neurofibromin-2 gene (NF2, {607379.0017})
Caused by mutation in the neurofilament light chain gene (NEFL, {162280.0003})
Caused by mutation in the neurogenin 3 gene (NEUROG3, {604882.0001})
Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 2 gene (CHRNA2, {118502.0001})
Caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (CHRNA4, {118504.0002})
Caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (NTRK1, ({191315.0001})
Caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (NCF1, {608512.0001})
Caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (NCF2, {608515.0001})
Caused by mutation in the Nipped-B-like gene (NIPBL, {608667.0001})
Caused by mutation in the NLR family, pyrin-domain containing 3 gene (NLRP3, {606416.0001})
Caused by mutation in the NLR family, pyrin-domain containing 3 gene (NLRP3, {606416.0004})
Caused by mutation in the nonerythrocytic beta 2 spectrin gene (SPTBN2, {604985.0001})
Caused by mutation in the nonimprinted gene in Prader-Willi syndrome/Angelman syndrome chromosome region-1 (NIPA1, {608145.0001})
Caused by mutation in the norrin gene (NDP, {300658.0001})
Caused by mutation in the NPC1 gene (NPC1, {607623.0001})
Caused by mutation in the nuclear factor of kappa light chain gene enhancer in B cells inhibitor alpha gene (NFKBIA, {164008.0001}).
Caused by mutation in the nuclear receptor binding SET domain protein 1 (NSD1, {606681.0011})
Caused by mutation in the nuclear receptor binding SET domain protein 1 gene (NSD1, {606681.0001})
Caused by mutation in the nuclear receptor subfamily 0, group B, member 1 gene (NR0B1, {300473.0001})
Caused by mutation in the nuclear receptor subfamily 2, group E, member 3 gene (NR2E3, {604485.0006})
Caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene (DGUOK, {601465.0001})
Caused by mutation in the nuclear-encoded mitochondrial DNA polymerase-gamma gene (POLG, {174763.0008})
Caused by mutation in the nuclear-encoded mitochondrial thymidine kinase gene (TK2, {188250.0001})
Caused by mutation in the nucleolar protein family A, member 3 gene (NOLA3, {606471.0001})
Caused by mutation in the OFD1 protein gene (CXorf5, {300170.0001})
Caused by mutation in the oligophrenin 1 gene (OPHN1, {300127.0001})
Caused by mutation in the OPA1 gene (OPA1, {605290.0001})
Caused by mutation in the OPA1 gene (OPA1, {605290.0011})
Caused by mutation in the OPA3 gene (OPA3, {606580.0001})
Caused by mutation in the p21-activated kinase 3 gene (PAK3, {300142.0001})
Caused by mutation in the palmitoyl-protein thioesterase 1 gene (PPT1, {600722.0001}).
Caused by mutation in the pantothenate kinase-2 gene (PANK2, {607157.0001})
Caused by mutation in the pantothenate kinase-2 gene (PANK2, {607157.0011})
Caused by mutation in the paraplegin gene (SPG7, {602783.0001}).
Caused by mutation in the periaxin gene (PRX, {605725.0001})
Caused by mutation in the pericentrin 2 gene (PCNT2, {605925.0004})
Caused by mutation in the peripheral myelin protein-22 gene (PMP22, {601097.0001})
Caused by mutation in the peripheral myelin protein-22 gene (PMP22, {601097.0006})
Caused by mutation in the peripheral myelin protein-22 gene (PMP22, {601097.0010})
Caused by mutation in the perlecan gene (HSPG2, {142461.0001})
Caused by mutation in the peroxisomal membrane protein-3 gene (PXMP3, {170993.0001})
Caused by mutation in the peroxisome biogenesis factor-1 gene (PEX1, {602136.0001})
Caused by mutation in the peroxisome biogenesis factor-12 gene (PEX12, {601758.0001})
Caused by mutation in the peroxisome biogenesis factor-14 gene (PEX14, {601791.0001})
Caused by mutation in the peroxisome biogenesis factor-26 gene (PEX26, {608666.0002})
Caused by mutation in the peroxisome biogenesis factor-3 gene (PEX3, {603164.0001})
Caused by mutation in the peroxisome biogenesis factor-5 gene (PEX5, {600414.0002})
Caused by mutation in the peroxisome biogenesis factor-6 gene (PEX6, {601498.0003})
Caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (PPARG, {601487.0007})
Caused by mutation in the phenylalanine hydroxylase gene (PAH, {261600.0001})
Caused by mutation in the phosphatase and tensin homolog gene (PTEN, {601728.0001})
Caused by mutation in the phosphatase and tensin homolog gene (PTEN, {601728.0004})
Caused by mutation in the phosphatase and tensin homolog gene (PTEN, {601728.0007})
Caused by mutation in the phosphate regulating endopeptidase homolog, X-linked, gene (PHEX, {300550.0001})
Caused by mutation in the phosphatidylinositol glycan, class M gene (PIGM, {610273.0001})
Caused by mutation in the phosphatidylinositol-3-phosphate 5-kinase, type III gene (PIP5K3, {609414.0001})
Caused by mutation in the phosphodiesterase 11A gene (PDE11A, {604961.0001})
Caused by mutation in the phosphoglycerate dehydrogenase gene (PHGDH, {606879.0001})
Caused by mutation in the phosphoglycerate kinase 1 gene (PGK1, {311800.0002}).
Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, {603604.0001})
Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, {603604.0005})
Caused by mutation in the phospholipase C, epsilon-1 gene (PLCE1, {608414.0001})
Caused by mutation in the phosphomannomutase 2 gene (PMM2, {601785.0001})
Caused by mutation in the phosphoribosylpyrophosphate synthetase I gene (PRPS1, {311850.0001})
Caused by mutation in the phosphoserine aminotransferase-1 gene (PSAT1, {610936.0001})
Caused by mutation in the plakoglobin gene (JUP, {173325.0001})
Caused by mutation in the plakophilin-2 gene ({602861.0001})
Caused by mutation in the plasminogen gene (PLG, {173350.0001})
Caused by mutation in the platelet-derived endothelial cell growth factor-1 gene (ECGF1, {131222.0001})
Caused by mutation in the platelet-derived growth factor receptor alpha gene (PDGFRA, {173940.0001})
Caused by mutation in the pleckstrin homology domain-containing protein, family G, member 5 gene (PLEKHG5, {611101.0001})
Caused by mutation in the plectin 1 gene (PLEC1, {601282.0006)}
Caused by mutation in the plectin gene (PLEC1, {601282.0001})
Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, {600644.0001})
Caused by mutation in the poliovirus receptor-like 1 gene (PVRL1, {600644.0002})
Caused by mutation in the polyglutamine-binding protein-1 gene (PQBP1, {300463.0001})
Caused by mutation in the potassium channel tetramerisation domain containing 7 gene (KCTD7, {611725.0001})
Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 11 gene KCNJ11 gene ({600937.0002})
Caused by mutation in the potassium channel, inwardly rectifying, subfamily J, member 2 gene (KCNJ2, {600681.0001})
Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, {600937.0001})
Caused by mutation in the potassium voltage-gated channel, Isk-related family, member 2 gene (KCNE2, {603796.0001})
Caused by mutation in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1, {176261.0001})
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, {192500.0001})
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, {192500.0013})
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 1 gene (KCNQ1, {607542.0032})
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 2 gene (KCNQ2, {602235.0001})
Caused by mutation in the potassium voltage-gated channel, KQT-like subfamily, member 3 gene (KCNQ3, {602232.0001})
Caused by mutation in the potassium voltage-gated channel, KQT-like, member 2 gene (KCNQ2, {602235.0006})
Caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (KCNA1, {176260.0001}).
Caused by mutation in the potassium voltage-gated channel, subfamily H, member 2 gene or human ether-a-go-go related gene (KCNH2, ({152427.0001})
Caused by mutation in the presenilin 2 gene (PSEN2, {600759.0001})
Caused by mutation in the presenilin-1 gene (PSEN1, {104311.0001})
Caused by mutation in the presenilin-1 gene (PSEN1, {104311.0023})
Caused by mutation in the presenilin-1 gene (PSEN1, {104311.0027})
Caused by mutation in the presynaptic glycine transporter-2 gene (SLC6A5, {604159.0001})
Caused by mutation in the prickle-like 1 gene (PRICKLE1, {608500.0001})
Caused by mutation in the prion protein gene (PRNP, {176640.0002})
Caused by mutation in the prion protein gene (PRNP, {176640.0010})
Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 gene (PLOD2, {601865.0001})
Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene (PLOD3, {603066.0001})
Caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase gene (PLOD, {153454.0001})
Caused by mutation in the proline dehydrogenase gene (PRODH, {606810.0001})
Caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1, {606347.0001})
Caused by mutation in the prolyl hydroxylase domain-containing protein 2 gene (EGLN1, {606425.0001})
Caused by mutation in the prominin-1 gene (PROM1, {604365.0013})
Caused by mutation in the proprotein convertase 1 gene (PC1, {162150.0001})
Caused by mutation in the prosaposin gene (PSAP, {176801.0001})
Caused by mutation in the prosaposin gene (PSAP, {176801.0005})
Caused by mutation in the prosaposin gene (PSAP, {176801.0009}).
Caused by mutation in the protease inhibitor 12 gene (PI12, {602445.0001}).
Caused by mutation in the protein C gene (PROC, {612283.0001})
Caused by mutation in the protein C gene (PROC, {612283.0003})
Caused by mutation in the protein kinase C substrate, 80-kD heavy chain gene (PRKCSH, {177060.0001}), or in the gene encoding the human homolog of S. cerevisiae Sec63 (SEC63, {608648.0001})
Caused by mutation in the protein kinase C, gamma polypeptide gene (PRKCG, {176980.0001})
Caused by mutation in the protein kinase, interferon-inducible double-stranded RNA-dependent activator gene (PRKRA, {603424.0001})
Caused by mutation in the protein O-mannosyltransferase-1 gene (POMT1, {607423.0005})
Caused by mutation in the protein S gene (PSA, {176880.0002})
Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type 11 gene (PTPN11, {176876.0004})
Caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11, {176876.0005})
Caused by mutation in the protocadherin 15 gene (PCDH15, {605514.0001})
Caused by mutation in the protocadherin 19 gene (PCDH19, {300460.0001}).
Caused by mutation in the protocadherin-15 gene (PCDH15, {605514.0006})
Caused by mutation in the PTEN-induced putative kinase-1 gene (PINK1, {608309.0001})
Caused by mutation in the puratrophin-1 gene (PLEKHG4, {609526.0001})
Caused by mutation in the purinergic receptor P2Y, G protein-coupled, 12 gene (P2RY12, {600515.0001})
Caused by mutation in the pyridoxamine 5-prime-phosphate oxidase gene (PNPO, {603287.0001})
Caused by mutation in the pyrin gene (MEFV, {608107.0018})
Caused by mutation in the pyruvate carboxylase gene (PC, {608786.0001})
Caused by mutation in the R-spondin family, member 4 gene (RSPO4, {610573.0001})
Caused by mutation in the RAB3 GTPase-activating protein gene (RAB3GAP, {602536.0001})
Caused by mutation in the RAB3 GTPase-activating protein, noncatalytic subunit gene (RAB3GAP2, {609275.0001})
Caused by mutation in the radixin gene (RDX, {179410.0001})
Caused by mutation in the rapsyn gene (RAPSN, {601592.0001})
Caused by mutation in the Ras-associated protein RAB23 gene (RAB23, {606144.0001})
Caused by mutation in the RAS-associated protein RAB7 ({602298.0001})
Caused by mutation in the RB1 gene (RB1, {180200.0001})
Caused by mutation in the receptor expression-enhancing protein-1 gene (REEP1, {609139.0001})
Caused by mutation in the receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, {602337.0004})
Caused by mutation in the recombination-activating gene 1 (RAG1, {179615.0018})
Caused by mutation in the recombination-activating gene 2 (RAG2, {179616.0009})
Caused by mutation in the regulatory factor X-associated protein gene (RFXAP, {601861.0001})
Caused by mutation in the regulatory factor X, 5 gene (RFX5, {601863.0001})
Caused by mutation in the regulatory factor X, ankyrin repeat-containing gene (RFXANK, {603200.0001})
Caused by mutation in the renin gene (REN, {179820.0002})
Caused by mutation in the RET protooncogene (RET, {164761.0013})
Caused by mutation in the retina and anterior neural fold homeobox gene (RAX, {601881.0001})
Caused by mutation in the Rho guanine nucleotide exchange factor 9 gene (ARHGEF9, {300429.0001})
Caused by mutation in the Rho guanine nucleotide exchange factor-6 gene ({300267.0001})
Caused by mutation in the Rho guanine-nucleotide exchange factor-10 gene (ARHGEF10, {608136.0001})
Caused by mutation in the RNA-binding motif protein 28 gene (RBM28
Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, {610937.0005}).
Caused by mutation in the runt-related transcription factor 1 gene (RUNX1, {151385.0001})
Caused by mutation in the runt-related transcription factor 2 gene (RUNX2, {600211.0001})
Caused by mutation in the ryanodine receptor-1 gene (RYR1, {180901.0025}).
Caused by mutation in the S. cerevisiae homolog of mediator of RNA polymerase II transcription, subunit 12 gene (MED12, {300188.0002})
Caused by mutation in the sacsin gene (SACS, {604490.0001})
Caused by mutation in the sal-like 1 gene (SALL1, {602218.0001})
Caused by mutation in the sal-like 4 gene (SALL4, {607323.0001})
Caused by mutation in the SBDS gene (SBDS, {607444.0001})
Caused by mutation in the scaffold protein containing ankyrin repeats and SAM domain gene (SANS, {607696.0001})
Caused by mutation in the seipin gene (BSCL2, {606158.0013})
Caused by mutation in the selenoprotein N, 1 gene (SEPN1, {606210.0008})
Caused by mutation in the semaphorin 4A gene (SEMA4A, {607292.0001})
Caused by mutation in the senataxin gene (SETX, {608465.00006})
Caused by mutation in the septin 9 gene (SEPT9, {604061.0001})
Caused by mutation in the serine protease inhibitor, Kazal type, 5 gene (SPINK5, {605010.0001})
Caused by mutation in the serine protease inhibitor, kazal-type-1 gene (SPINK1, {167790.0001})
Caused by mutation in the serpin peptidase inhibitor, clade A, member 6 gene (SERPINA6, {122500.0001})
Caused by mutation in the set-binding factor-2 gene (SBF2, {607697.0001})
Caused by mutation in the SH3 domain and tetratricopeptide repeat domain 2 gene (SH3TC2, {608206.0001})
Caused by mutation in the SH3 domain-binding protein-2 gene (SH3BP2, {602104.0001})
Caused by mutation in the short chain acyl-CoA dehydrogenase gene (ACADS, {606885.0001}
Caused by mutation in the short/branched-chain acyl-CoA dehydrogenase gene (ACADSB, {600301.0001})
Caused by mutation in the sialyltransferase-9 gene (SIAT9, {604402.0001})
Caused by mutation in the signal transducer and activator of transcription-3 gene (STAT3, {102582.0001}
Caused by mutation in the skeletal muscle alpha-1 actin gene (ACTA1, {102610.0011})
Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, {118425.0001})
Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, {118425.0002})
Caused by mutation in the SMAD-interacting protein 1 gene (SMADIP1, {605802.0001})
Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, {600163.0001})
Caused by mutation in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, {600163.0025})
Caused by mutation in the solute carrier 22 (urate transporter), member 12 gene (SLC22A12, {607096.0001})
Caused by mutation in the solute carrier family 12 (sodium/chloride transporter), member 6 gene (SLC12A6, {604878.0001})
Caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporters), member 1 gene (SLC12A1, {600839.0001})
Caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene (SLC25A22, {609302.0001})
Caused by mutation in the solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 gene (SLC25A15, {603861.0001})
Caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, {606718.0002})
Caused by mutation in the solute carrier family 29 (nucleoside transporter), member 3 gene (SLC29A3, {612373.0001})
Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 1 gene (SLC34A1, {182309.0001})
Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (SLC34A2, {604217.0001})
Caused by mutation in the solute carrier family 34, member 3 gene ({609826.0001})
Caused by mutation in the solute carrier family 35, CMP-sialic acid transporter, member 1 gene (SLC35A1, {605634.0001})
Caused by mutation in the solute carrier family 35, member D1 gene (SLC25D1, {610804.0001})
Caused by mutation in the solute carrier family 39 (zinc transporter), member 13 gene (SLC39A13, {608735.0001})
Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (SLC7A7, {603593.0001})
Caused by mutation in the solute carrier family 9, isoform A3, regulatory factor 1 gene (SLC9A3R1, {604990.0001})
Caused by mutation in the solute carrier family 9, isoform A6 gene (SLC9A6, {300231.0001})
Caused by mutation in the son of sevenless, Drosophila, homolog 1 gene (SOS1, {182530.0001})
Caused by mutation in the sonic hedgehog gene (SHH, {600725.0014})
Caused by mutation in the spartin gene (SPG20, {607111.0001}).
Caused by mutation in the spastin gene (SPG4, {604277.0001}).
Caused by mutation in the spatacsin gene (SPG11, {610844.0001})
Caused by mutation in the spermine synthase gene (SMS, {300105.0001})
Caused by mutation in the SRY (sex determining region Y)-box 2 gene (SOX2, {184427.0001})
Caused by mutation in the SRY-box 18 gene (SOX18, {601618.0001})
Caused by mutation in the SRY-box-10 gene (SOX10, {602229.0001})
Caused by mutation in the SRY-box-10 gene (SOX10, {602229.0006})
Caused by mutation in the sterile alpha motif domain-containing protein-9 gene (SAMD9, {610456.0001}).
Caused by mutation in the steroid sulfatase gene (STS, {300747.0001})
Caused by mutation in the sterol 3-beta-hydroxysteroid-delta-5-desaturase gene (SC5DL, {602286.0001})
Caused by mutation in the subunit 1 phosphatase of the C-terminal domain of RNA polymerase II subunit A gene (CTDP1, {604927.0001})
Caused by mutation in the succinate dehydrogenase complex subunit B gene (SDHB, {185470.0001})
Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, {600857.0001})
Caused by mutation in the succinate-CoA ligase ADP-forming beta-subunit gene (SUCLA2, {603921.0001})
Caused by mutation in the superoxide dismutase-1 gene (SOD-1, {147450.0001}) Susceptibility conferred by mutation in the angiogenin gene (ANG, {105850.0001})
Caused by mutation in the suppression of tumorigenicity 14 gene (ST14, {606797.0001})
Caused by mutation in the surfeit 1 gene (SURF1, {185620.0001})
Caused by mutation in the surfeit-1 gene (SURF1, {185620.0001})
Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, {601607.0005})
Caused by mutation in the synapsin-1 gene (SYN1, {313440.0001})
Caused by mutation in the syntaxin 16 gene (STX16, {603666.0001})
Caused by mutation in the syntaxin-binding protein 1 gene (STXBP1, {602926.0001}).
Caused by mutation in the system B(0) neutral amino acid transporter-1 gene (SLC6A19, {608893.0001})
Caused by mutation in the T7 gene 4-like protein with intramitochondrial nucleoid localization gene (C10orf2, {606075.0012})
Caused by mutation in the telethonin gene (TCAP, {604488.0001}).
Caused by mutation in the telomerase reverse transcriptase gene (TERT, {187270.0007})
Caused by mutation in the telomerase RNA component gene (TERC, {602322.0001})
Caused by mutation in the tenascin XB gene (TNXB, {600985.0001})
Caused by mutation in the testis-specific protein-like 1 gene (TSPYL1, {604714.0001})
Caused by mutation in the tetratricopeptide repeat domain 8 gene (TTC8, {608132.0001})
Caused by mutation in the TFCP2L3 gene ({608576.0001})
Caused by mutation in the thiopurine S-methyltransferase gene (TPMT, {187680.0001})
Caused by mutation in the thrombopoietin gene (THPO, {600044.0001}
Caused by mutation in the thyroid transcription factor 1 gene (TITF1, {600635.0005})
Caused by mutation in the thyroid transcription factor-1 gene (TITF1, {600635.0001})
Caused by mutation in the thyroid-stimulating hormone receptor gene (TSHR, {603372.0004})
Caused by mutation in the thyroid-stimulating hormone receptor gene (TSHR, {603372.0005})
Caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (TSHB, {188540.0001}
Caused by mutation in the titin gene (TTN, {188840.0004})
Caused by mutation in the titin gene (TTN, {188840.0012})
Caused by mutation in the transcription factor AP2-alpha gene (TFAP2A, {107580.0001})
Caused by mutation in the transcription factor-4 gene (TCF4, 602272.0001})
Caused by mutation in the transforming growth factor, beta receptor I, 53kD gene (TGFBR1, {190181.0001})
Caused by mutation in the transforming growth factor, beta receptor II, 70-80kD gene (TGFBR2, {190182.0008})
Caused by mutation in the transforming growth factor, beta-3 gene (TGFB3, {190230.0001})
Caused by mutation in the transforming growth factor, beta-induced, 68kD gene (TGFBI, {601692.0005})
Caused by mutation in the transglutaminase-5 gene (TGM5, {603805.0001})
Caused by mutation in the transient receptor potential cation channel, subfamily M, member 6 gene (TRPM6, {607009.0001})
Caused by mutation in the transmembrane protease, serine 6 gene (TMPRSS6, {609862.0001})
Caused by mutation in the transmembrane protein 15 (TMEM15, {610746.0001})
Caused by mutation in the transmembrane protein 16E gene (TMEM16E, {608662.0001})
Caused by mutation in the transmembrane protein 67 gene (TMEM67, {609884.0006})
Caused by mutation in the transporter, ATP-binding cassette, major histocompatibility complex, 2 gene (TAP2, {170261.0004})
Caused by mutation in the transthyretin gene (TTR, {176300.0001})
Caused by mutation in the TRF1-interacting nuclear factor 2 gene (TINF2, {604319.0001})
Caused by mutation in the TRIO- and F-actin-binding protein (TRIOBP, {609761.0001})
Caused by mutation in the tripartite motif-containing 37 gene (TRIM37, {605073.0001})
Caused by mutation in the tripartite motif-containing protein 32 gene (TRIM32, {602290.0001})
Caused by mutation in the tropomyosin 2 gene (TPM2, {190990.0002})
Caused by mutation in the tropomyosin 2 gene (TPM2, {190990.0004})
Caused by mutation in the tropomyosin-3 gene (TPM3, {191030.0001})
Caused by mutation in the troponin I, fast-twitch skeletal muscle isoform, gene (TNNI2, {191043.0001})
Caused by mutation in the troponin T1 gene (TNNT1, {191041.0001})
Caused by mutation in the troponin T3, fast skeletal muscle gene (TNNT3, {600692.0001})
Caused by mutation in the tubulin-specific chaperone E gene (TCBE, {604934.0001})
Caused by mutation in the tumor necrosis factor receptor superfamily member 1A gene (TNFRSF1A, {191190.0001}).
Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, {603499.0001})
Caused by mutation in the tumor protein p63 gene (TP63, {603273.0001})
Caused by mutation in the tumor protein p73-like gene (TP73L, {603273.0011})
Caused by mutation in the tumor-associated calcium signal transducer 2 gene (TACSTD2, {137290.0001})
Caused by mutation in the TWINKLE gene (C10ORF2, {606075.0001})
Caused by mutation in the TWINKLE gene (C10orf2, {606075.0010})
Caused by mutation in the TWIST transcription factor gene (TWIST, {601622.0001})
Caused by mutation in the type 2 bone morphogenetic protein receptor gene (BMPR2, {600799.0001})
Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, {603967.0009})
Caused by mutation in the type IX, voltage-gated sodium channel, alpha subunit gene (SCN9A, {603415.0008})
Caused by mutation in the tyrosinase gene (TYR, {606933.0001})
Caused by mutation in the tyrosine hydroxylase gene (TH, {191290.0001}).
Caused by mutation in the ubiquinol-cytochrome c reductase-binding protein complex III subunit VII gene (UQCRQ, {612080.0001})
Caused by mutation in the ubiquinol-cytochrome c reductase-binding protein gene (UQCRB, {191330.0001})
Caused by mutation in the ubiquitin protein ligase E3A gene (UBE3A, {601623.0001})
Caused by mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1, {605981.0001})
Caused by mutation in the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 gene (GALNT3, {601756.0001})
Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, {603824.0005})
Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, {603824.0012})
Caused by mutation in the UPF3, B, yeast homolog gene (UPF3B, {300298.0001})
Caused by mutation in the uracil-DNA glycosylase gene (UNG, {191525.0001})
Caused by mutation in the uroporphyrinogen decarboxylase gene (UROD, {176100.0001})
Caused by mutation in the uroporphyrinogen III cosynthase gene (UROS, {606938.0001})
Caused by mutation in the USH3A gene (USH3A, {606397.0001})
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