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Results for C in English, page 152
Caused by a trinucleotide repeat expansion (CTG)n in the dystrophia myotonica-protein kinase gene (DMPK, {605377.0001})
Caused by a trinucleotide repeat expansion (GCG)n in the poly(A)-binding protein-2 gene (PABPN1, {602279.0001})
Caused by a trinucleotide repeat expansion CAG(n) in the junctophilin-3 gene (JPH3, {605268.0001})
Caused by a trinucleotide repeat expnasion CAG(n) in the androgen receptor gene (AR, {313700.0014})
Caused by an interstitial deletion of 17p11.2
Caused by chromosomal mosaicism
Caused by constitutive activation of the AVPR2 receptor
Caused by contiguous gene deletion on chromosome Xp11.3, including the RP2 gene ({312600})
Caused by contraction of a D4Z4 repeat array at chromosome 4q35
Caused by deletion in the nephrocystin gene (NPHP1, {607100.0005})
Caused by deletion of the very low density lipoprotein receptor (VLDLR, {192977.0001})
Caused by deletions of multiple genes in the mitochondrial DNA
Caused by duplication of the methyl-Cp6-binding protein 2 gene (MECP2, {300005.0030})
Caused by duplication or deletion at 11p15.5
CAUSED BY EXERCISE
Caused by expanded CAG trinucleotide repeats in the alpha-1A calcium channel subunit gene (CACNA1A, {601011.0007})
Caused by expanded CAG trinucleotide repeats in the ataxin-1 gene (ATX1, {601556.0001}).
Caused by expanded CAG trinucleotide repeats in the ataxin-2 gene (ATX2, {601517.0001}).
Caused by expanded CAG trinucleotide repeats in the beta subunit of the protein phosphatase 2 gene (PPP2R2B, {604325.0001}).
Caused by fusion of the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1, {610613}) and the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, {124080})
Caused by fusion of the FIP1-like 1 gene (FIP1L1, {607686}) and the platelet-derived growth factor receptor-alpha gene (PDGFRA, {173490})
Caused by fusion of the RET protooncogene ({164761}) with TIF1G ({605769}), D10S170 ({601985}), ELE1 ({601984}), and PRKAR1A ({188830})
Caused by inactivating mutations in the parathyroid hormone receptor 1 gene, in contrast to Jansen type metaphyseal chondrodysplasia, {156400}
Caused by inborn error in bile acid synthesis
Caused by inheritance of the mutation on the maternal allele (imprinting)
Caused by inheritance of the mutation on the paternal allele (imprinting)
Caused by insertion of 8 extra octapeptide repeats in the prion protein gene (PRNP, {176640.0020})
Caused by interstitial or terminal deletion of chromosome 18q
caused by mental factors
Caused by microdeletions of 11p13
Caused by microduplication of 3q29.
Caused by mutation in alkaline phosphatase gene (ALPL, {171760.0003})
Caused by mutation in cadherin 23 (CDH23, {605516.0001})
Caused by mutation in cartilage oligomeric matrix protein (COMP, {600310.0005})
Caused by mutation in cyclin-dependent kinase inhibitor 2A (CDKN2A, {600160.0003})
Caused by mutation in establishment of cohesion 1, S. cerevisiae, homolog of, 2 gene ( ESCO2, {609353.0004})
Caused by mutation in glycoprotein 1b, platelet, alpha polypeptide (GP1A, {606672.0003})
Caused by mutation in homeobox-HB9 gene (HLXB9, {142994.0001})
Caused by mutation in lactase (LCT, {603202.0001})
Caused by mutation in myosin, heavy chain 9, non-muscle gene (MYH9, {160775.0001})
Caused by mutation in ribose 5-phosphate isomerase A (RPIA, {180430.0001})
Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase X gene (HSD17B10, {300256.0004})
Caused by mutation in the 2-methyl-3-hydroxybutyryl Co-A dehydrogenase gene (HADH2, {300256.0001})
Caused by mutation in the 290-kD centrosomal protein gene (CEP290, {610142.0004})
Caused by mutation in the 290-kD centrosomal protein gene (CEP290, {610142.0004}).
Caused by mutation in the 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase gene (HSD3B7, {607764.0001})
Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, {606609.0001})
Caused by mutation in the 3-prime repair exonuclease-1 gene (TREX1, {606609.0005})
Caused by mutation in the 300-KD E1A-binding protein (EP300, {602700.0003})
Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, {609695.0001})
Caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD, {609695.0005})
Caused by mutation in the 62-kd nucleoporin gene (NUP62, {605815.0001})
Caused by mutation in the 73-kD PDZ-domain-containing protein (USH1C, {605242.0001})
Caused by mutation in the abelson helper integration site 1 gene (AHI1, {608894.0001})
Caused by mutation in the abhydrolase domain containing-5 gene (ABHD5, {604780.0001})
Caused by mutation in the abnormal spindle-like, microcephaly-associated gene (ASPM, {605481.0001})
Caused by mutation in the acetylglucosaminyltransferase-like protein (LARGE, {603590.0001})
Caused by mutation in the acid beta glucosidase gene (GBA, {606463.0001})
Caused by mutation in the acid beta-glucocerebrosidase gene (GBA, {606643.0001})
Caused by mutation in the acid beta-glucosidase gene (GBA, {606463.
Caused by mutation in the acid beta-glucosidase gene (GBA, {606463.0001})
Caused by mutation in the acid beta-glucosidase gene (GBA, {606463.0006})
Caused by mutation in the activation-induced cytidine deaminase gene (AICDA, {605257.0001})
Caused by mutation in the acyl-CoA dehydrogenase-9 gene (ACAD9, {611103.0001}).
Caused by mutation in the adaptor-related protein complex 3, beta-1 subunit gene (AP3B1, {603401.0001})
Caused by mutation in the adenosine deaminase, RNA-specific gene (ADAR, {601059.0001})
Caused by mutation in the adenylosuccinate lyase gene (ADSL
Caused by mutation in the aggrecan-1 gene (AGC1, {155760.0001})
Caused by mutation in the AICAR formyltransferase/IMP cyclohydrolase gene (ATIC, {601731.0001})
Caused by mutation in the aladin gene (AAAS, {605378.0001})
Caused by mutation in the aldehyde dehydrogenase 18 family, member A1 gene (ALDH18A1, {138250.0001}).
Caused by mutation in the aldehyde dehydrogenase 5 family, member A1 gene (ALDH5A1, {610045.0001})
Caused by mutation in the aldehyde dehydrogenase 7 family, member A1 gene (ALDH7A1, {107323.0001})
Caused by mutation in the alkaline phosphatase gene (ALPL, {171760.0003})
Caused by mutation in the alkylglycerone-phosphate synthase gene (AGPS, {603051.0001})
Caused by mutation in the ALMS1 gene (ALMS1, {606844.0001})
Caused by mutation in the alpha polypeptide of sodium channel, voltage gated, type I gene (SCN1A, {182389.0007}).
Caused by mutation in the alpha subunit of the 3-methylcrotonyl-CoA carboxylase gene (MCCC1, {609010.0001})
Caused by mutation in the alpha subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHA, {600890.0003})
Caused by mutation in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, {603967.0015})
Caused by mutation in the alpha-1 subunit of the glycine receptor gene (GLRA1, {138491.0001})
Caused by mutation in the alpha-1-subunit of the voltage-gated type II sodium channel gene (SCN2A1, {182390.0002})
Caused by mutation in the alpha-1,4-glucosidase gene (GAA, {606800.0002})
Caused by mutation in the alpha-1S subunit of L-type voltage-dependent calcium channel gene (CACNA1S, {114208.0001})
Caused by mutation in the alpha-B-crystallin gene (CRYAB, {123590.0001})
Caused by mutation in the alpha-mannosidase gene (MAN2B1, {609458.0001})
Caused by mutation in the alpha-methylacyl-CoA racemase gene (AMACR, {604489.0001})
Caused by mutation in the alpha-N-acetylgalactosaminidase gene (NAGA, {104170.0001})
Caused by mutation in the alpha-N-acetylgalactosaminidase gene (NAGA, {104170.0002})
Caused by mutation in the alpha-sarcoglycan gene (SGCA, {600119.0001})
Caused by mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, {139320.0011})
Caused by mutation in the alpha-synuclein gene (SNCA, {163890.0004})
Caused by mutation in the alpha-tectorin gene (TECTA, {602574.0001})
Caused by mutation in the alpha-tubulin 1A gene (TUBA1A, {602529.0001})
Caused by mutation in the alsin gene (ALS2, {606352.0002})
Caused by mutation in the alsin gene (ALS2, {606352.0005})
Caused by mutation in the aminoacylase-1 gene (ACY1, {104620.0001}).
Caused by mutation in the aminomethyltransferase gene (AMT, {238310.0001})
Caused by mutation in the amnionless gene (AMN, {605799.0001})
Caused by mutation in the amyloid precursor protein gene (APP, {104760.0001})
Caused by mutation in the angiotensin II receptor type 1 gene (AGTR1, {106165.0003})
Caused by mutation in the angiotensin-converting enzyme gene (ACE, {106180.0003})
Caused by mutation in the angiotensinogen gene (AGT, {106150.0003})
Caused by mutation in the anthrax toxin receptor 2 gene (ANTXR2, {608041.0001})
Caused by mutation in the antithrombin III gene (AT3, {107300.0001})
Caused by mutation in the apolipoprotein C-II gene (APOC2, {608083.0002})
Caused by mutation in the aprataxin gene (APTX, {606350.0001}).
Caused by mutation in the aquaporin-2 gene (AQP2, {107777.0001})
Caused by mutation in the arginine vasopressin receptor 2 gene (AVPR2, {300538.0021})
Caused by mutation in the arginine vasopressin receptor-2 gene (AVPR2, {300538.0001})
Caused by mutation in the argininosuccinate synthetase gene (ASS, {603470.0001})
Caused by mutation in the artemis gene (ARTEMIS, {605988.0001})
Caused by mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP, {605555.0001})
Caused by mutation in the arylsulfatase A gene (ARSA, {607574.0003})
Caused by mutation in the ataxia-telangiectasia and Rad3-related gene (ATR, {601215.0001})
Caused by mutation in the atlastin gene (SPG3A, {606439.0001})
Caused by mutation in the ATP synthase 6 gene (MTAP6, {516060.0003})
Caused by mutation in the ATP synthase 6 gene (MTATP6, {516060.0001})
Caused by mutation in the ATP-binding cassette, subfamily B, member 11 gene (ABCB11, {603201.0001})
Caused by mutation in the ATP-binding cassette, subfamily B, member 11 gene (ABCB11, {603201.0002})
Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4, {171060.0001})
Caused by mutation in the ATP-binding cassette, subfamily B, member 4 gene (ABCB4, {171060.0002})
Caused by mutation in the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, {600509.0016})
Caused by mutation in the ATP-binding cassette, subfamily G, member 5 gene (ABCG5, {605459.0001})
Caused by mutation in the ATP-binding cassette, subfamily G, member 8 gene (ABCG8, {605460.0001})
Caused by mutation in the ATPase type 13A2 gene (ATP13A2, {610513.0001})
Caused by mutation in the ATPase, Ca(2+)-transporting, type 2C, member 1 gene (ATP2C1, {604384.0001})
Caused by mutation in the ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2 gene (ATP2A2, {108740.0001})
Caused by mutation in the ATPase, Ca++ transporting, slow-twitch, cardiac muscle-2 gene (ATP2A2, {108740})
Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, {602397.0001})
Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, {602397.0004})
Caused by mutation in the ATPase, class I, type 8B, member 1 gene (ATP8B1, {602397.0006})
Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, {300011.0001})
Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, {300011.0002})
Caused by mutation in the ATPase, Cu++ transporting, beta polypeptide gene (ATP7B, {277900.0001})
Caused by mutation in the ATPase, H+ transporting, lysosomal, accessory protein-2 gene (ATP6AP2, {300556.0001})
Caused by mutation in the ATPase, Na+K+ transporting, alpha-2 polypeptide gene (ATP1A2, {182340.0001})
Caused by mutation in the ATPase, Na+K+ transporting, alpha-2 polypeptide gene (ATP1A2, {182340.0005})
Caused by mutation in the ATR-X gene (ATRX, {300032.0001})
Caused by mutation in the AU-specific RNA-binding protein gene (AUH
Caused by mutation in the Aurora kinase C gene (AURKC, {603495.0001})
Caused by mutation in the autoimmune regulator gene (AIRE, {607358.0001})
Caused by mutation in the barttin gene (BSND, {606412.0001})
Caused by mutation in the BBS1 gene (BBS1, {209901.0001})
Caused by mutation in the BBS2 gene (BBS2, {606151.0001})
Caused by mutation in the BBS4 gene (BBS4, {600374.0001})
Caused by mutation in the BBS5 gene (BBS5, {603650.0001})
Caused by mutation in the BBS7 gene (BBS7, {607590.0001})
Caused by mutation in the bcs1, S. cerevisiae, homolog-like gene (BCS1L, {603647.0001})
Caused by mutation in the bcs1, S. cerevisiae, homolog-like gene (BCS1L, {603647.0002})
Caused by mutation in the bestrophin 1 gene (BEST1, {607854.0020})
Caused by mutation in the beta cardiac myosin heavy chain gene (MYH7, {160760.0028})
Caused by mutation in the beta filamin B gene (FLNB, {603381.0001})
Caused by mutation in the beta subunit of the hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (HADHB, {143450.0001})
Caused by mutation in the beta-1 galactosidase gene (GLB1, {611458.0001})
Caused by mutation in the beta-1-galactosidase gene (GLB, {230500.0003})
Caused by mutation in the beta-1-galactosidase gene (GLB1, {230500.0004})
Caused by mutation in the beta-1,4-galactosyltransferase gene (B4GALT1, {137060.0001}).
Caused by mutation in the beta-1,4-mannosyltransferase gene (ALG1, {605907.0001})
Caused by mutation in the beta-2-microglobulin gene (B2M, {109700.0001})
Caused by mutation in the beta-3 gap junction protein gene (GJB3, 603324.0001})
Caused by mutation in the beta-4 gap junction protein gene (GJB4, {605425.0001})
Caused by mutation in the beta-actin gene (ACTB, {102630.0001}).
Caused by mutation in the beta-galactosidase gene (GLB1, {611458.0009})
Caused by mutation in the beta-mannosidase gene (MANBA, {609489.0001})
Caused by mutation in the beta-sarcoglycan gene (SGCB, {600900.0001})
Caused by mutation in the beta-subunit of the glycine receptor gene (GLRB, {138492.0001})
Caused by mutation in the beta-synuclein gene (SNCB, {602569.0001})
Caused by mutation in the beta-ureidopropionase gene (UPB1, {606673.0001})
Caused by mutation in the bone morphogenetic protein 4 (BMP4, {112262.0001})
Caused by mutation in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, {603248.0001})
Caused by mutation in the branched chain keto acid dehydrogenase E1, alpha polypeptide gene (BCKDHA, {608348.0001})
Caused by mutation in the branched chain keto acid dehydrogenase E1, beta polypeptide gene (BCKDHB, {248611.0001})
Caused by mutation in the BRCA2 gene (BRCA2, {600185.0027})
Caused by mutation in the bridging integrator 1 gene (BIN1, {601248.0001})
Caused by mutation in the bromodomain-and WD repeat domain-containing protein 3 gene (BRWD3, {300553.0001})
Caused by mutation in the budding uninhibited by benzimidazoles 1 beta gene (BUB1B, {602860.0003})
Caused by mutation in the C1 esterase inhibitor gene (C1NH, {106100.0001})
Caused by mutation in the C1q- and tumor necrosis factor-related protein 5 gene (C1QTNF5, {608752.0001})
Caused by mutation in the C20ORF7 gene ({612360.0001})
Caused by mutation in the C8ORF38 gene (C8ORF38, {612392.0001})
Caused by mutation in the CACNA1A gene ({601011.0002}).
Caused by mutation in the cadherin 23 gene (CDH23, {605516.0005})
Caused by mutation in the cadherin 3 gene (CDH3, {114021.0001})
Caused by mutation in the calcium-activated large conductance potassium channel subfamily M, alpha member 1 gene (KCNMA1, {600150.0001})
Caused by mutation in the calpain 3 gene (CAPN3, {114240.0001})
Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha gene (PRKAR1A, {188830.0001})
Caused by mutation in the cAMP-dependent protein kinase, regulatory, type I, alpha gene (PRKAR1A, {188830.0009})
Caused by mutation in the cardiac muscle alpha actin gene (ACTC1, {102540.0003})
Caused by mutation in the cardiotrophin-like cytokine gene (CLCF1, {607672.0001})
Caused by mutation in the carnitine palmitoyltransferase IA gene (CPT1A, {600528.0001})
Caused by mutation in the carnitine palmitoyltransferase II gene (CPT2, {600650.0009})
Caused by mutation in the cartilage-associated protein gene (CRTAP, {605497.0001})
Caused by mutation in the cartilage-associated protein gene (CRTAP, {605497.0002})
Caused by mutation in the caspase 8 gene (CASP8, {601763.0001})
Caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (DPM1, {603503.0001})
Caused by mutation in the cathepsin C gene (CTSC, {602365.0006})
Caused by mutation in the cathepsin D gene (CTSD, {116840.0001}).
Caused by mutation in the caveolin-3 gene (CAV3, {601253.0001})
Caused by mutation in the CCM2 gene (CCM2, {607929.0001})
Caused by mutation in the CD19 antigen gene (CD19, {107265.0001})
Caused by mutation in the CD36 antigen gene (CD36, {173510.0001})
Caused by mutation in the CD8 antigen, alpha polypeptide gene (CD8A, {186910.0001})
Caused by mutation in the centromeric protein J gene (CENPJ, {609279.0001})
Caused by mutation in the cereblon gene (CRBN, {609262.0001})
Caused by mutation in the chaperonin-containing t-complex peptide-1 subunit 5 gene (CCT5, {610150.0001})
Caused by mutation in the chloride channel 5 gene (CLCN5, {300008.0001})
Caused by mutation in the chloride channel 5 gene (CLCN5, {300008.0005})
Caused by mutation in the chloride channel 5 gene (CLCN5, {300008.0007})
Caused by mutation in the chloride channel 7 gene (CLCN7, {602727.0004})
Caused by mutation in the chloride channel-2 gene (CLCN2, {600570.0001})
Caused by mutation in the chloride channel-2 gene (CLCN2, {600570.0002})
Caused by mutation in the chloride channel-2 gene (CLCN2, {600570.0003})
Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, {100730.0001})
Caused by mutation in the chondroitin sulfate proteoglycan-2 gene (CSPG2, {118661.0001})
Caused by mutation in the chorein gene (VPS13A, {605978.0001})
Caused by mutation in the chromatin-modifying protein 2B (CHMP2B, {609512.0001})
Caused by mutation in the chromodomain helicase DNA-binding protein 7 gene (CHD7, {608892.0001})
Caused by mutation in the chromosome 10 open reading frame 2 gene (C10ORF2, {606075.0011})
Caused by mutation in the chromosome 2 open reading frame 25 gene (C2ORF25, {611935.0001})
Caused by mutation in the chromosome X open reading frame 5 gene (CXORF5, {300170.0007}).
Caused by mutation in the citrin gene (SLC25A13, {603859.0001}).
Caused by mutation in the claudin 16 gene (CLDN16, {603959.0001})
Caused by mutation in the claudin 19 (CLDN19, {610036.0001})
Caused by mutation in the CLN2 gene (CLN2, {607998.0001})
Caused by mutation in the CLN3 gene (CLN3, {607042.0001}).
Caused by mutation in the CLN5 gene (CLN5, {608102.0001})
Caused by mutation in the CLN8 gene (CLN8, {607837.0001})
Caused by mutation in the coagulation factor IX gene (F9, {300746.0001})
Caused by mutation in the coagulation factor V gene (F5, {612309.0001})
Caused by mutation in the coagulation factor V gene (F5, {612309.0004)
Caused by mutation in the coagulation factor X gene (F10, {227600.0006})
Caused by mutation in the COH1 gene (COH1, {607817.0001})
Caused by mutation in the coiled-coil and C2 domain-containing 1A gene (CC2D1A, {610055.0001}).
Caused by mutation in the coiled-coil and C2 domains-containing protein 2A (CC2D2A, {612013.0001})
Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, {120150.0024})
Caused by mutation in the collagen I, alpha-1 polypeptide gene (COL1A1, {120160.0005})
Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, {120160.0005})
Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, {120160.0045})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0002})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0003})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0005})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0017})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0030})
Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0039})
Caused by mutation in the collagen III, alpha-1 polypeptide gene (COL3A1, {120180.0020})
Caused by mutation in the collagen IV, alpha-1 polypeptide gene (COL4A1, {120130.0003}).
Caused by mutation in the collagen IX, alpha-1 polypeptide gene (COL9A1, {120210.0001})
Caused by mutation in the collagen IX, alpha-3 polypeptide gene (COL9A2, {120270.0001})
Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, {120120.0001}).
Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, {120120.0002}).
Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, {120120.0009}).
Caused by mutation in the collagen type VII, alpha-1 gene (COL7A1, {120120.0014}).
Caused by mutation in the collagen type VIII alpha-2 gene (COL8A2, {120252.0001})
Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, ({120220.0001})
Caused by mutation in the collagen VI, alpha-1 polypeptide gene (COL6A1, ({120220.0007})
Caused by mutation in the collagen VI, alpha-2 polypeptide gene (COL6A2, ({120240.0001})
Caused by mutation in the collagen VI, alpha-3 polypeptide gene (COL6A3, ({120250.0001})
Caused by mutation in the collagen X, alpha-1 polypeptide gene (COL10A1, {120110.0001})
Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, {120280.0001})
Caused by mutation in the collagen XI, alpha-1 polypeptide gene (COL11A1, {120280.0002})
Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, {120290.0001})
Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, {120290.0002})
Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, {120290.0004})
Caused by mutation in the collagen XI, alpha-2 polypeptide gene (COL11A2, {120290.0005})
Caused by mutation in the collagenic tail of endplate acetylcholinesterase gene (COLQ, {603033.0001})
Caused by mutation in the complement factor H gene (CFH, {134370.0002})
Caused by mutation in the complement factor I gene (CFI, {217030.0001})
Caused by mutation in the complex I, subunit ND1 gene (MTND1, {516000.0001})
Caused by mutation in the complex I, subunit ND2 gene (MTND2, {516001.0001})
Caused by mutation in the complex I, subunit ND3 gene (MTND3, {516002.0001})
Caused by mutation in the complex I, subunit ND4 gene (MTND4, {516003.0001})
Caused by mutation in the complex I, subunit ND4L gene (MTND4L, {516004.0002})
Caused by mutation in the complex I, subunit ND5 gene (MTND5, {516005.0001})
Caused by mutation in the complex I, subunit ND6 gene (MTND6, {516006.0001})
Caused by mutation in the complex IV, cytochrome c oxidase subunit I gene (MTCO1, {516030.0001})
Caused by mutation in the component X gene of the pyruvate dehydrogenase complex (PDHX, {608769.0001})
Caused by mutation in the connexin 43 gene (GJA1, {121014.0003})
Caused by mutation in the connexin-32 gene (GJB1, {304040.0001})
Caused by mutation in the coproporphyrinogen oxidase (CPO, {121300.0001})
Caused by mutation in the creatine transporter gene (SLC6A8, {300036.0001})
Caused by mutation in the CREB-binding protein gene (CREBBP, {600140.0001})
Caused by mutation in the cullin 4B gene (CUL4B, {300304.0001})
Caused by mutation in the cullin 7 gene (CUL7, ({609577.0001})
Caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (CNGA3, {600053.0001})
Caused by mutation in the cyclic nucleotide-gated channel, beta-3 gene (CNGB3, {605080.0001})
Caused by mutation in the cyclin-dependent kinase inhibitor 1C gene (CDKN1C, {600856.0001})
Caused by mutation in the cyclin-dependent kinase inhibitor-1B gene (CDKN1B, {600778.0001})
Caused by mutation in the cyclin-dependent kinase-4 gene (CDK4, {123829.0001})
Caused by mutation in the CYLD gene ({605018.0001})
Caused by mutation in the CYLD gene ({605018.0003})
Caused by mutation in the CYLD gene ({605018.0005})
Caused by mutation in the cysteine- and glycine-rich protein 3 gene (CSRP3, {600824.0002})
Caused by mutation in the cystinosin gene (CTNS, {219800.0001})
Caused by mutation in the cytochrome b of complex III gene (MTCYB, {516020.0001})
Caused by mutation in the cytochrome b(-245) alpha subunit gene (CYBA, {608508.0001})
Caused by mutation in the cytochrome b(-245) beta subunit gene (CYBB, {300481.0001})
Caused by mutation in the cytochrome c oxidase III gene (MTCO3, {516050.0001})
Caused by mutation in the cytochrome c oxidase III gene (MTCO3, {516050.0005})
Caused by mutation in the cytochrome c oxidase subunit 15 gene (COX15, {603646})
Caused by mutation in the cytochrome c oxidase subunit I gene (MTCO1, {516030.0004})
Caused by mutation in the cytochrome c oxidase subunit II gene (MTCO2, {516040.0001})
Caused by mutation in the cytochrome c oxidase subunit III gene (MTCO3, {516050.0004})
Caused by mutation in the cytochrome c oxidase subunit VIb, polypeptide 1 gene (COX6B1, {124089.0001})
Caused by mutation in the cytochrome c oxidase subunit X gene (COX10, {602125.0001})
Caused by mutation in the cytochrome c oxidase, subunit 15 gene (COX15, {603646.0001})
Caused by mutation in the cytochrome P450 oxidoreductase gene (POR, {124015.0001})
Caused by mutation in the cytochrome p450 subfamily XIB, polypeptide 2 gene (CYP11B2, {124080.0002})
Caused by mutation in the cytochrome P450, family 7, subfamily B, polypeptide 1 gene (CYP7B1, ({603711.0001}).
Caused by mutation in the cytochrome P450, subfamily IID6 gene (CYP2D6, {124030.0001})
Caused by mutation in the cytochrome P450, subfamily XIB, polypeptide 1 gene (CYP11B1, {610613.0001})
Caused by mutation in the cytochrome P450, subfamily XIB, polypeptide 2 gene (CYP11B2, {124080.0001})
Caused by mutation in the D-2-hydroxyglutarate dehydrogenase gene (D2HGD, {609186.0001})
Caused by mutation in the delta-4-3-oxosteroid 5-beta-reductase gene (AKR1D1, {604741.0001})
Caused by mutation in the delta-aminolevulinate synthase 2 gene (ALAS2, {301300.0001})
Caused by mutation in the dentin sialophosphoprotein gene (DSPP, {125485.0001})
Caused by mutation in the dentin sialophosphoprotein gene (DSPP, {125485.0003})
Caused by mutation in the dentin sialophosphoprotein gene (DSPP, {125485.0005})
Caused by mutation in the desmin gene (DES, {125660.0001})
Caused by mutation in the desmocollin 2 gene (DSC2, {125645.0001})
Caused by mutation in the desmoglein 2 gene (DSG2, {125671.0001})
Caused by mutation in the desmoplakin gene (DSP, {125647.0003})
Caused by mutation in the desmoplakin gene (DSP, {125647.0008}).
Caused by mutation in the DFNA5 gene ({608798.0001})
Caused by mutation in the dihydrolipoamide acetyltransferase gene (DLAT, {608770.0001})
Caused by mutation in the dihydrolipoamide branched chain transacylase gene (DBT, {248610.0001})
Caused by mutation in the dihydrolipoamide dehydrogenase gene (DLD, {238331.0001})
Caused by mutation in the dimethylglycine dehydrogenase gene (DMGDH, {605849.0001})
Caused by mutation in the DJ1 gene ({602533.0001})
Caused by mutation in the DNA ligase-4 gene (LIG4, {601837.0007})
Caused by mutation in the DNA polymerase gamma-2 gene (POLG2, {604983.0001}).
Caused by mutation in the DNA polymerase-gamma gene (POLG, {174763.0002})
Caused by mutation in the DNA polymerase-gamma gene (POLG, {174763.0007})
Caused by mutation in the dolichyl-phosphate N-acetylglucosamine phosphotransferase gene (DPAGT1, {191350.0001})
Caused by mutation in the dopa decarboxylase gene (DDC, {107930.0001})
Caused by mutation in the dopamine beta-hydroxylase gene (DBH, {609312.0002})
Caused by mutation in the doublecortin gene (DCX, {300121.0001})
Caused by mutation in the downstream of tyrosine kinase 7 gene (DOK7, {610285.0001})
Caused by mutation in the dynactin-1 gene (DCTN1, {601143.0001})
Caused by mutation in the dynamin-2 gene (DNM2, {602378.0001})
Caused by mutation in the dynamin-2 gene (DNM2, {602378.0004})
Caused by mutation in the dysferlin gene (DYS, {603009.0001})
Caused by mutation in the dysferlin gene (DYSF, {603009.0003})
Caused by mutation in the dyskerin gene (DKC1, {300126.0001})
Caused by mutation in the E homolog of the Drosophila NK2 transcription factor (NKX2E, {600584.0004})
Caused by mutation in the E1-alpha polypeptide-1 of the pyruvate dehydrogenase complex gene (PDHA1, {312170.0011})
Caused by mutation in the E1-alpha subunit of the pyruvate dehydrogenase complex (PDHA1, {300502.0001})
Caused by mutation in the early growth response-2 gene (EGR2, {129010.0001})
Caused by mutation in the early growth response-2 gene (EGR2, {129010.0002})
Caused by mutation in the early growth response-2 gene (EGR2, {129010.0004})
Caused by mutation in the ectodysplasin A gene (ED1, {300451.0001})
Caused by mutation in the ectodysplasin anhidrotic receptor gene (EDAR, {604095.0001})
Caused by mutation in the ectodysplasin anhidrotic receptor gene (EDAR, {604095.0005})
Caused by mutation in the EDAR-associated death domain gene (EDARADD, {606603.0001})
Caused by mutation in the EDAR-associated death domain gene (EDARADD, {606603.0002})
Caused by mutation in the EF-hand domain (C-terminal)-containing 1 gene EFHC1, ({608815.0006})
Caused by mutation in the EGF-containing fibulin-like extracellular matrix protein 2 gene (EFEMP2, {604633.0001})
Caused by mutation in the elastin gene (ELN, {130160.0008})
Caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (MYH3, {160720.0001}).
Caused by mutation in the emopamil-binding protein gene (EBP, {300205.0001})
Caused by mutation in the enamelin gene (ENAM, {606585.0001})
Caused by mutation in the enamelin gene (ENAM, {606585.0003})
Caused by mutation in the endoglin gene (ENG, {131195.0001})
Caused by mutation in the endothelin receptor, type B gene (EDNRB, {131244.0001})
Caused by mutation in the endothelin-3 gene (EDN3, {131242.0001})
Caused by mutation in the ephrin B1 gene (EFNB1, {300035.0001})
Caused by mutation in the epididymal secretory protein HE1 gene (NPC1, {601015.0001})
Caused by mutation in the epsilon-sarcoglycan gene (SGCE, {604149.0001})
Caused by mutation in the erythropoeitin receptor gene (EPOR, {133171.0001})
Caused by mutation in the establishment of cohesion 1 homolog 2 gene (ESCO2, {609353.0001})
Caused by mutation in the ETHE1 gene (ETHE1, {608451.0001})
Caused by mutation in the euchromatic histone methyltransferase-1 gene (EHMT1, {607001.0001})
Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3, {604032.0001})
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 1 gene (EIF2B1, {606686.0001})
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 2 gene (EIF2B2, {606454.0001})
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 3 gene (EIF2B3, {606273.0001})
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 4 gene (EIF2B4, {606687.0001})
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 5 gene (EIF2B5, {603945.0001})
Caused by mutation in the EVC gene (EVC, {225500.0001})
Caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 6 gene (ERCC6, {133540.0007})
Caused by mutation in the excision-repair cross-complementing group 3 gene (ERCC3, {133510.0001})
Caused by mutation in the excision-repair cross-complementing group 4 gene (ERCC4, {133520.0001})
Caused by mutation in the eyes absent-1 gene (EYA1, {601653.0001})
Caused by mutation in the eyes absent-1 gene (EYA1, {601653.0003})
Caused by mutation in the F-box only protein 7 gene (FBXO7, {605648.0001})
Caused by mutation in the factor H gene (HF1, {134370.0001})
Caused by mutation in the family with sequence similarity 126 gene, member A gene (FAM126A, {610531.0001})
Caused by mutation in the family with sequence similarity 83, member H gene (FAM83H, {611927.0001})
Caused by mutation in the fatty acid 2-hydroxylase gene (FA2H, {611026.0001})
Caused by mutation in the ferm domain-containing 7 gene (FRMD7, {300628.0001})
Caused by mutation in the ferritin light-chain gene (FTL, {134790.0010})
Caused by mutation in the fibrillin-1 gene (FBN1, {134797.0040})
Caused by mutation in the fibroblast growth factor 10 gene (FGF10, {602115.0003})
Caused by mutation in the fibroblast growth factor 23 gene (FGF23, {605380.0001})
Caused by mutation in the fibroblast growth factor 23 gene (FGF23, {605380.0003})
Caused by mutation in the fibroblast growth factor 3 gene (FGF3, {164950.0001})
Caused by mutation in the fibroblast growth factor gene-14 (FGF14, {601515.0001})
Caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2, {176943.0035})
Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, {134934.0014})
Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, {134934.0028})
Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, {134934.0029})
Caused by mutation in the fibroblast growth factor receptor-1 gene (FGFR1, {136350.0001})
Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, {176943.0007})
Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, {176943.0010})
Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, {134934.0001})
Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, {134934.0004})
Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, {134934.0005})
Caused by mutation in the fibulin 5 gene (FBLN5, {604580.0001})
Caused by mutation in the filamin A gene ({300017.0009})
Caused by mutation in the filamin A gene (FLNA, {300017.0010})
Caused by mutation in the filamin A gene (FLNA, {300017.0011})
Caused by mutation in the filamin B gene (FLNB, {603381.0004})
Caused by mutation in the FMR1 gene (FMR1, {309550.0001})
Caused by mutation in the FMS-like tyrosine kinase-4 gene (FLT4, {136352.0001})
Caused by mutation in the folliculin gene (FLCN, {607273.0001})
Caused by mutation in the folliculin gene (FLCN, {607273.0009})
Caused by mutation in the forkhead box C2 gene (FOXC2, {602402.0001})
Caused by mutation in the forkhead box C2 gene (FOXC2, {602402.0007})
Caused by mutation in the forkhead box E3 gene (FOXE3, {601094.0002})
Caused by mutation in the forkhead box P2 gene (FOXP2, {605317.0001})
Caused by mutation in the forkhead box P3 gene (FOXP3, {300292.0001})
Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, {605597.0001})
Caused by mutation in the four-and-a-half LIM domains 1 gene ({FHL1, {300163.0004}).
Caused by mutation in the four-and-a-half LIM domains 1 gene ({FHL1, {300163.0006}).
Caused by mutation in the four-and-a-half lim domains 1 gene (FHL1, {300163.0001})
Caused by mutation in the four-and-a-half LIM domains 1 gene (FHL1, {300163.0002}).
Caused by mutation in the frataxin gene (FXN, {606829.0001})
Caused by mutation in the frizzled 4 gene (FZD4, {604579.0001})
Caused by mutation in the fructose-1,6-bisphosphatase gene (FBP1, {611570.0001})
Caused by mutation in the fukutin gene (FCMD, {253800.0001})
Caused by mutation in the fukutin gene (FCMD, {607440.0005})
Caused by mutation in the fukutin gene (FKTN, {607440.0001})
Caused by mutation in the fukutin-related protein gene (FKRP, {606596.0001})
Caused by mutation in the fukutin-related protein gene (FKRP, {606596.0004})
Caused by mutation in the fumarate hydratase gene (FH, {136850.0001})
Caused by mutation in the fumarate hydratase gene (FH, {136850.0003})
Caused by mutation in the FXYD domain-containing ion transport regulator 2 gene (FXYD2, {601814.0001})
Caused by mutation in the FYVE, RhoGEF, and PH domain-containing protein-4 gene (FGD4, {611104.0001})
Caused by mutation in the G protein-coupled receptor 56 gene (GPR56, {604110.0001})
Caused by mutation in the G-protein, alpha-stimulating 1 gene (GNAS1, {139320.0001})
Caused by mutation in the G-protein, alpha-stimulating 1 gene (GNAS1, {139320.0035})
Caused by mutation in the galactokinase 1 gene (GALK1, {604313.0001})
Caused by mutation in the gamma sarcoglycan gene (SGCG, {253700.0001})
Caused by mutation in the gamma-1 actin gene (ACTG1, {102560.0001})
Caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (GABRG2, {137164.0002})
Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, {606589.0001})
Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, {606598.0002})
Caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (GDAP1, {606598.0006})
Caused by mutation in the gap junction alpha-12 gene (GJA12, {608803.0001})
Caused by mutation in the gap junction protein, beta 2 gene (GJB2, {121011.0020})
Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, {121011.0012})
Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, {121011.0015}
Caused by mutation in the gastric intrinsic factor gene (GIF, {609342.0001}).
Caused by mutation in the GATA-binding protein 1 gene (GATA1, {305371.0006})
Caused by mutation in the gene encoding peripheral myelin protein-22 (PMP22, {601097.0004})
Caused by mutation in the gene encoding the beaded filament structural protein 2 (BFSP2, {603212.0001})
Caused by mutation in the gene encoding the MAPBP-interacting protein gene (MAPBPIP, {610389.0001})
Caused by mutation in the gene for the ATP-binding cassette, subfamily C, member 8 gene (ABCC8, {600509.0001})
Caused by mutation in the gephyrin gene (GPH, {603930.0002})
Caused by mutation in the gigaxonin gene (GAN, {605379.0001})
Caused by mutation in the glioma-inactivated leucine-rich 1 gene (LGI1, {604619.0001})
Caused by mutation in the glucokinase gene (GCK, {138079.0009})
Caused by mutation in the glucokinase gene (GCK, {138079.0011}
Caused by mutation in the glucose-6-phosphate transporter 1 gene (G6PT1, {602671.0001})
Caused by mutation in the glucosidase I gene (GCS1, {601336.0001})
Caused by mutation in the glutamate decarboxylase 1 gene (GAD1, {605363.0001})
Caused by mutation in the glycine cleavage system H protein gene (GCSH, {238330.0001})
Caused by mutation in the glycine dehydrogenase gene (GLDC, {238300.0001})
Caused by mutation in the glycoprotein Ib, platelet, alpha polypeptide gene (GP1BA, {606672.0006})
Caused by mutation in the glycyl tRNA synthetase gene (GARS, {600287.0001})
Caused by mutation in the glycyl tRNA synthetase gene (GARS, {600287.0002})
Caused by mutation in the glypican 3 gene (GPC3, {300037.0001})
Caused by mutation in the GNAS complex locus gene ({139320.0031}
Caused by mutation in the GNAS complex locus, antisense transcript (GNASAS, {610540.0001})
Caused by mutation in the granulin gene (GRN, {138945.0001})
Caused by mutation in the growth/differentiation factor 5 gene (GD5, {601146.0005})
Caused by mutation in the growth/differentiation factor-5 gene (GDF5, {601146.0013})
Caused by mutation in the GTP cyclohydrolase I gene (GCH1, {600225.0001})
Caused by mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide gene (GNAS, {139320.0002})
Caused by mutation in the guanylate cyclase 2D, membrane, retina-specific gene (GUCY2D, 600179.0001})
Caused by mutation in the heat-shock 22-kD protein 8 gene (HSPB8, {608014.0001})
Caused by mutation in the heat-shock 27-kD protein (HSPB1, {602195.0001})
Caused by mutation in the heat-shock 27-kD protein 1 gene (HSPB1, {602195.0001})
Caused by mutation in the heat-shock 60-Kd protein 1 gene (HSPD1, {118190.0002})
Caused by mutation in the heparan-alpha-glucosaminide N-acetyltransferase gene (HGSNAT, {610453.0001})
Caused by mutation in the heparin cofactor II gene (HCF2, {142360.0001})
Caused by mutation in the hepatocyte nuclear factor-1-beta gene (TCF2, {189907.0001}).
Caused by mutation in the hereditary hemochromatosis gene (HFE, {235200.0001})
Caused by mutation in the histidine ammonia lyase gene (HAL, {609457.0001})
Caused by mutation in the holocytochrome C synthase gene (HCCS, {300056.0001})
Caused by mutation in the homeo box-A11 gene (HOXA11, {142958.0001})
Caused by mutation in the homeobox A13 gene (HOXA13, {142959.0001})
Caused by mutation in the homeobox A2 gene (HOXA2, {604685.0001})
Caused by mutation in the homeobox D10 gene (HOXD10, {142984.0001})
Caused by mutation in the homeobox D13 gene (HOXD13, {142989.0001})
Caused by mutation in the homeobox D13 gene (HOXD13, {142989.0008}).
Caused by mutation in the homogentisate 1,2-dioxygenase gene (HGD, {607474.0001})
Caused by mutation in the homolog of S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 gene (MED12, {300188.0001})
Caused by mutation in the homolog of the Drosophila aristaless homeobox gene (ARIX, {602753.0001})
Caused by mutation in the homolog of the Drosophila muscle segment homeo box (MSX1, {142983.0004})
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