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Results for C in English, page 154
Caused by mutation in the usherin gene (USH2A, {608400.0001}).
Caused by mutation in the V-Ha-RAS Harvey rat sarcoma viral oncogene homolog gene (HRAS, {190020.0001})
Caused by mutation in the V-Ki-Ras2 Kirsten rat sarcoma 2 viral oncogene homolog gene (KRAS, {190070.0009})
Caused by mutation in the V-KIT Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog gene (KIT, {164920.0011})
Caused by mutation in the v-Maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF, {177075.0001})
Caused by mutation in the V-Raf murine sarcoma viral oncogene homolog B1 gene (BRAF, {164757.0012})
Caused by mutation in the valosin-containing protein gene (VCP, {601023.0001})
Caused by mutation in the very long-chain acyl-CoA dehydrogenase gene (ACAVLD, {609575.0001})
Caused by mutation in the vesicle-associated membrane protein-associated protein B gene (VAPB, {605704.0001})
Caused by mutation in the VHL gene (VHL, {608537.0014})
Caused by mutation in the voltage-gated potassium channel, Shaw-related subfamily, member 3 gene (KCNC3, {176264.0001})
Caused by mutation in the voltage-gated sodium channel 9 alpha-subunit gene (SCN9A, {603415.0001})
Caused by mutation in the voltage-gated sodium channel, type IX, alpha subunit gene (SCN9A, {603415.0005}).
Caused by mutation in the von Hippel-Lindau gene (VHL, {193300.0001})
Caused by mutation in the WAS gene (WAS, {300392.0004})
Caused by mutation in the WAS gene (WAS, {300392.0012})
Caused by mutation in the Wilms tumor 1 gene (WT1, {607102.0003}).
Caused by mutation in the wingless-type MMTV integration site family, member 10A gene (WNT10A, {606268.0001})
Caused by mutation in the wingless-type MMTV integration site family, member 3 gene (WNT3, {165330.0001})
Caused by mutation in the wingless-type MMTV integration site family, member 4 gene (WNT4, {603490.0001})
Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, {601570.0001})
Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, {601570.0002})
Caused by mutation in the WT1 gene (WT1, {607102.0010})
Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, {300382.0001})
Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, {300382.0002}).
Caused by mutation in the zeta-chain-associated protein kinase 70 gene (ZAP70, {176497.0001})
Caused by mutation in the zinc finger FYVE domain-containing protein 26 (ZFYVE26, {612012.0001}).
Caused by mutation in the zinc finger FYVE-domain containing protein-27 gene (ZFYVE27, {610243.0001})
Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, {606480.0001})
Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, {606480.0003}
Caused by mutation in tumor protein p53 (TP53, {191170.0001})
Caused by mutation in type IX collagen, alpha-2 polypeptide gene (COL9A2, {120260.0001})
Caused by mutation the glycogen branching enzyme gene (GBE1, {607839.0002})
Caused by mutation the in glyceronephosphate O-acyltransferase gene (GNPAT, {602744.0001})
Caused by mutation the laminin alpha-2 chain gene (LAMA2, {156225.0001})
Caused by mutations in a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 gene (ADAMTS10, {608990.0001})
Caused by mutations in alpha-galactosidase A gene (GLA {301500.0001})
Caused by mutations in cartilage oligomeric matrix protein (COMP, {600310.0001})
Caused by mutations in dyskerin (DKC1, {300126.0006})
Caused by mutations in galactose-1-phosphate uridyltransferase gene (GALT, {230400.0001})
Caused by mutations in homolog 3 of the Drosophila 'roundabout' gene (ROBO3, {608630.0001})
Caused by mutations in lecithin:cholesterol acyltransferase gene (LCAT, {606967.0005}).
Caused by mutations in merlin (NF2, {101000.0001})
Caused by mutations in myeloproliferative leukemia virus oncogene (MPL, {159530.0001})
Caused by mutations in Peroxisomal membrane protein-3, 35kD (PXMP3, {170993.0002})
Caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ROR2, {602337.0001})
Caused by mutations in subunit A of the neuronal voltage-gated sodium channel gene (SCN1A, {182389.0012})
Caused by mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 gene (AGPAT2, {603100.0001}).
Caused by mutations in the 17-beta-hydroxysteroid dehydrogenase IV gene (HSD17B4, {601860.0001})
Caused by mutations in the 24-dehydrocholesterol reductase gene (DHCR24, {606418.0001})
Caused by mutations in the 25-hydroxyvitamin D3-1-alpha-hydroxylase gene (CYP27B1, {609506.0001}).
Caused by mutations in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 gene (PAPSS2, {603005.0001})
Caused by mutations in the 45-kD receptor-associated protein of the synapse (RAPSYN, {601592.0001})
Caused by mutations in the 5-alpha-reductase-2 gene (SRD5A2, {607306.0001})
Caused by mutations in the acetylglucosaminyltransferase-like protein gene (LARGE, {603590.0003})
Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, {607608.0001})
Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, {607608.0002})
Caused by mutations in the activin receptor-like kinase gene (ALK1, {601284.0001})
Caused by mutations in the adaptin, beta-3A gene (ADTB3A, {603401.0001})
Caused by mutations in the adenine phosphoribosyltransferase gene (APRT, {102600.0001})
Caused by mutations in the adenomatous polyposis coli gene (APC, {175100.0001})
Caused by mutations in the adenosine deaminase gene (ADA, {102700.0001})
Caused by mutations in the aldehyde dehydrogenase 3 family, member A2 gene (ALDH3A2, {270200.0001})
Caused by mutations in the alkaline phosphatase gene (ALPL, {171760.0001})
Caused by mutations in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, {603967.0001})
Caused by mutations in the alpha-3 laminin gene (LAMA3, {600805.0003})
Caused by mutations in the alpha-3 subunit of the Na+/K+-ATPase gene (ATP1A3, {182350.0001})
Caused by mutations in the alpha-L-fucosidase gene (FUCA1, {230000.0001})
Caused by mutations in the alpha-subunit of the type IV voltage-gated sodium channel gene (SCN4A, {603967.0003})
Caused by mutations in the alsin gene (ALS2, {606352.0001})
Caused by mutations in the amylo-1,6-glucosidase, 4-alpha-glucoanotransferase gene (AGL, {610860.0001})
Caused by mutations in the amyloid beta (A4) precursor protein gene (APP, {104760.0002})
Caused by mutations in the androgen receptor gene (AR, {313700.0001})
Caused by mutations in the androgen receptor gene (AR, {313700.0008})
Caused by mutations in the ankyrin 1 gene (ANK1, {182900.0001})
Caused by mutations in the ankyrin 2 gene (ANK2, {106410.0001})
Caused by mutations in the apolipoprotein A-I gene ({APOA1, {107680.0001})
Caused by mutations in the apolipoprotein B gene (APOB, {107730.0001})
Caused by mutations in the apolipoprotein Lp(a) gene (LPA, {152200.0001})
Caused by mutations in the arginase gene (ARG1, {207800.0001})
Caused by mutations in the argininosuccinate lyase gene (ASL, {608310.0001})
Caused by mutations in the arylsulfatase B gene (ARSB, {611542.0001})
Caused by mutations in the arylsulfatase E gene (ARSE, {300180.0001})
Caused by mutations in the aspartoacylase gene (ASPA, {271900.0001})
Caused by mutations in the ataxia-telangiectasia mutated gene (ATM, {607585.0001})
Caused by mutations in the ataxin 7 gene (SCA7, {607640.0001})
Caused by mutations in the ATP-binding cassette, subfamily B, member 7 gene (ABCB7, {300135.0001}).
Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, {603234.0001})
Caused by mutations in the ATP-binding cassette, subfamily C, member 6 gene (ABCC6, {603234.0005})
Caused by mutations in the BCL6 corepressor gene (BCOR, {300485.0002})
Caused by mutations in the beta-1 transforming growth factor gene (TGFB1, {190180.0001})
Caused by mutations in the beta-2 integrin gene (ITGB2, {600065.0001})
Caused by mutations in the beta-3 laminin gene (LAMB3, {150130.001})
Caused by mutations in the beta-glucuronidase gene (GUSB, {611499.0001})
Caused by mutations in the biotinidase gene (BTD, ({253260.0001})
Caused by mutations in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, {603248.0003})
Caused by mutations in the BRCA1-associated C-terminal helicase 1 gene (BRIP1, {605882.0001})
Caused by mutations in the breast cancer type 1 gene (BRCA1, {113705.0001})
Caused by mutations in the breast cancer type 2 gene (BRCA2, {600185.0001})
Caused by mutations in the Bruton agammaglobulinemia tyrosine kinase gene (BTK, {300300.0001})
Caused by mutations in the Bruton tyrosine kinase gene (BTK, {300300.0004})
Caused by mutations in the butrylcholinesterase gene (BCHE, {177400.0001})
Caused by mutations in the calcium channel, voltage-dependent, beta-4 subunit gene (CACNB4, {601949.0001})
Caused by mutations in the calcium channel, voltage-dependent, P/Q type, alpha 1A subunit gene (CACNA1A, {601011.0005})
Caused by mutations in the calcium-sensing receptor gene (CASR, {601199.0001})
Caused by mutations in the canalicular multispecific organic anion transporter gene (ABCC2, {601107.0001})
Caused by mutations in the carbamoylphosphate synthetase I gene (CPS1, {608307.0001})
Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, {600650.0001})
Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, {600650.0002})
Caused by mutations in the cartilage-derived morphogenetic protein-1 gene (CDMP1, {601146.0005})
Caused by mutations in the caspase 10 gene (CASP10, {601762.0001})
Caused by mutations in the cathepsin C gene (CTSC, {602365.0001})
Caused by mutations in the cathepsin C gene (CTSC, {602365.0012})
Caused by mutations in the cathepsin K gene (CTSK, {601105.0001})
Caused by mutations in the caveolin 3 gene (CAV3, {601253.0001})
Caused by mutations in the CD40 gene (TNFRSF5, {109535.0001}).
Caused by mutations in the cellular retinaldehyde-binding protein-1 gene (RLBP1, {180090.0004})
Caused by mutations in the ceruloplasmin gene (CP, {117700.0001}).
Caused by mutations in the chemokine (C-X-C motif) receptor 4 gene (CXCR4, {162643.0001})
Caused by mutations in the chloride channel 7 gene (CLCN7, {602727.0001})
Caused by mutations in the choline acetyltransferase gene (CHAT, {118490.0001})
Caused by mutations in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (CHRNA1, {100690.0001})
Caused by mutations in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (CHRNA1, {100690.0007})
Caused by mutations in the cholinergic receptor, nicotinic, beta polypeptide-1 gene (CHRNB1, {100710.0001})
Caused by mutations in the cholinergic receptor, nicotinic, beta-1 subunit (CHRNB1, {100710.0003})
Caused by mutations in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, {100720.0001})
Caused by mutations in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, {100720.0002})
Caused by mutations in the cholinergic receptor, nicotinic, epsilon polypeptide gene (CHRNE, {100725.0001})
Caused by mutations in the cholinergic receptor, nicotinic, epsilon polypeptide gene (CHRNE, {100725.0003})
Caused by mutations in the cholinergic receptor, nicotinic, epsilon polypeptide gene (CHRNE, {100725.0004})
Caused by mutations in the claudin-1 gene (CLDN1, {603718.0001})
Caused by mutations in the CLN6 gene (CLN6, {606725.0001})
Caused by mutations in the CLN8 gene (CLN8, {607837.0002})
Caused by mutations in the coagulation factor VIII gene (F8, {306700.0001})
Caused by mutations in the collagen I, alpha-1 polypeptide gene (COL1A1, {120150.0001})
Caused by mutations in the collagen I, alpha-1 polypeptide gene (COL1A1, {120150.0003})
Caused by mutations in the collagen I, alpha-1 polypeptide gene (COL1A1, {120150.0026})
Caused by mutations in the collagen I, alpha-2 polypeptide gene (COL1A2, {120160.0001})
Caused by mutations in the collagen I, alpha-2 polypeptide gene (COL1A2, {120160.0004})
Caused by mutations in the collagen I, alpha-2 polypeptide gene (COL1A2, {120160.0007})
Caused by mutations in the collagen II, alpha-1 polypeptide gene (COL2A1, {120140.0001})
Caused by mutations in the collagen III, alpha-1 polypeptide gene (COL3A1, {120180.0001})
Caused by mutations in the collagen V, alpha-1 polypeptide gene (COL5A1, {120215.0002})
Caused by mutations in the collagen V, alpha-2 polypeptide gene (COL5A2, {120190.0001})
Caused by mutations in the collagen VI, alpha-2 polypeptide gene (COL6A2, ({120240.0002})
Caused by mutations in the collagen VI, alpha-3 polypeptide gene (COL6A3, ({120250.0002})
Caused by mutations in the collagen XVII, alpha-1 polypeptide gene (COL17A2, {113811.0001})
Caused by mutations in the collagen XVIII, alpha-1 polypeptide gene (COL18A1, {120328.0001})
Caused by mutations in the complement component 4A gene (C4A, {120810.0001})
Caused by mutations in the cyclin-dependent kinase inhibitor 2A gene (CDKN2A, {600160.0001})
Caused by mutations in the cystathionase gene (CTH, {607657.0001})
Caused by mutations in the cystathionine beta-synthase gene (CBS, {236200.0001})
Caused by mutations in the cystatin B gene (CSTB, {601145.0001})
Caused by mutations in the cystatin C gene (CST3, {604312.0001})
Caused by mutations in the cysteine-rich protein with EGF-like domain 1 gene (CRELD1, {607170.0001})
Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, {602421.0001})
Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, {602421.0005})
Caused by mutations in the cystinosin gene (CTNS, {219800.0009})
Caused by mutations in the cystinosis gene (CTNS, {219800.0008})
Caused by mutations in the cytochrome P450, subfamily I, dioxin-inducible, polypeptide 1 gene (CYP1B1, {601771.0001})
Caused by mutations in the cytochrome P450, subfamily IID gene (CYP2D, {124030.0001})
Caused by mutations in the cytochrome P450, subfamily XXVIIA, polypeptide 1 gene (CYP27A1, {213700.0001})
Caused by mutations in the cytokine-like factor 1 gene (CRLF1, {604237.0001})
Caused by mutations in the deafness/dystonia-1 gene (TIMM8A, {300356.0001}).
Caused by mutations in the delta-1-pyrroline-5-carboxylate dehydrogenase gene (P5CDH, {606811.0001})
Caused by mutations in the delta-7-dehydrocholesterol reductase gene (DHCR7, {602858.0001})
Caused by mutations in the delta-aminolevulinate dehydratase gene (ALAD, {125270.0001})
Caused by mutations in the dentin sialophosphoprotein gene (DSPP, {125485.0004})
Caused by mutations in the desmoplakin gene (DSP, {125647.0004})
Caused by mutations in the diaphorase gene (DIA1, {250800.0001})
Caused by mutations in the distal-less homeo box-3 gene (DLX3, {600525.0001})
Caused by mutations in the DNA methyl-transferase 3B gene (DNMT3B, {602900.0001})
Caused by mutations in the DNA polymerase gamma gene (POLG, {174763.0001})
Caused by mutations in the dysferlin gene (DYSF, {603009.0002})
Caused by mutations in the dystrophin gene (DMD, {300377.0001})
Caused by mutations in the emerin gene (EMD, {300384.0001})
Caused by mutations in the emopamil-binding protein gene (EBP, {300205.0006})
Caused by mutations in the endothelin 3 gene (EDN3, {131242.0004})
Caused by mutations in the endothelin converting enzyme-1 gene (ECE1, {600423.0001})
Caused by mutations in the endothelin receptor type B gene (EDNRB, {131244.0001})
Caused by mutations in the enolase 3 gene (ENO3, {131370.0001})
Caused by mutations in the erythrocytic protein 4.2 gene (EPB42, {177070.0001})
Caused by mutations in the EVC gene (EVC, {604831.0006})
Caused by mutations in the excision-repair cross-complementing group 6 gene (ERCC6, {609413.0001})
Caused by mutations in the excision-repair cross-complementing group 8 gene (ERCC8, {609412.0001})
Caused by mutations in the exostosin 1 gene (EXT1, {133700.0001})
Caused by mutations in the exostosin 2 gene (EXT2, {133701.0001})
Caused by mutations in the faciogenital dysplasia gene (FGD1, {300546.0001})
Caused by mutations in the Fas antigen gene (FAS, {134637.0001})
Caused by mutations in the Fas ligand gene (FASL, {134638.0001})
Caused by mutations in the ferrochelatase gene (FECH, {177000.0001})
Caused by mutations in the fibrillin 1 gene (FBN1, {134797.0022})
Caused by mutations in the fibrillin 2 gene (FBN2, {121050.0001})
Caused by mutations in the fibrillin-1 gene (FBN1, {134797.0001})
Caused by mutations in the fibroblast growth factor receptor 2 gene (FGFR2, {176943.0001})
Caused by mutations in the fibroblast growth factor receptor-1 gene (FGFR1, {136350.0001})
Caused by mutations in the fibroblast growth factor receptor-2 gene (FGFR2, {176943.0012})
Caused by mutations in the fibroblast growth factor receptor-2 gene (FGFR2, {176943.0015})
Caused by mutations in the fibroblast growth factor receptor-3 gene (FGFR3, {134934.0010})
Caused by mutations in the filamin A gene (FLNA, {300017.0001})
Caused by mutations in the filamin A gene (FLNA, {300017.0012})
Caused by mutations in the filamin C gene (FLNC, {102565.0001})
Caused by mutations in the flavoprotein subunit of succinate dehydrogenase complex (SDHA, {600857.0001})
Caused by mutations in the FLJ14813 gene (FLJ14813, 608221.0001)
Caused by mutations in the FLJ90130 gene (FLJ90130, {607461.0001})
Caused by mutations in the FLJ90140 gene (FLJ90130, {607461.0005})
Caused by mutations in the follicle-stimulating hormone receptor gene (FSHR, {136435.0008})
Caused by mutations in the FRAS1 gene ({607830.0001}) or the FREM2 gene ({608945.0001})
Caused by mutations in the fukutin-related protein gene (FKRP, {606596.0016})
Caused by mutations in the fukutin-related protein gene (FKRP, {606596.0017})
Caused by mutations in the fumarylacetoacetase gene (FAH, {276700.0001})
Caused by mutations in the galactosamine-6-sulfatase gene (GALNS, {253000.0001})
Caused by mutations in the gamma-2 laminin gene (LAMC2, {150292.0006})
Caused by mutations in the gamma-aminobutyric acid receptor, alpha-1 gene (GABRA1, {137160.0001})
Caused by mutations in the gap junction protein, beta-6 gene (GJB6, {604418.0002})
Caused by mutations in the GATA-binding protein-1 gene (GATA1, {305371.0001})
Caused by mutations in the GLI-Kruppel family member 3 gene (GLI3, {165240.0002})
Caused by mutations in the GLI-Kruppel family member GLI3 gene (GLI3, {165240.0001})
Caused by mutations in the glial cell line-derived neurotrophic factor gene (GDNF, {600837.0001})
Caused by mutations in the glial fibrillary acidic protein gene (GFAP, {137780.0001})
Caused by mutations in the glucose-6-phosphatase, catalytic gene (G6PC, {232200.0001})
Caused by mutations in the glutamate dehydrogenase gene (GLUD1, {138130.0001})
Caused by mutations in the glutamate-cysteine ligase, catalytic subunit gene (GCLC, {606857.0001})
Caused by mutations in the glutaryl-CoA dehydrogenase gene (GA1, {231670.0001})
Caused by mutations in the glycine N-methyltransferase gene (GNMT, {606628.0001})
Caused by mutations in the glycogen branching enzyme gene (GBE1, {607839.0001})
Caused by mutations in the glycosylceramidase gene (GALC, {606890.0001})
Caused by mutations in the growth/differentiation factor-5 gene (GDF5, {601146.0001})
Caused by mutations in the growth/differentiation factor-5 gene (GDF5, {601146.0003})
Caused by mutations in the growth/differentiation factor-5 gene (GDF5, {601146.0006})
Caused by mutations in the H19 gene (H19, {103280.0001})
Caused by mutations in the hamartin gene (TSC1, {605284.0001})
Caused by mutations in the hamartin gene (TSC1, {605284.0007})
Caused by mutations in the heat-shock 22-kD protein 8 gene (HSPB8, {608014.0003})
Caused by mutations in the helicase-2 gene (XH2, {300032.0011})
Caused by mutations in the heparan sulfate sulfatase gene (SGSH, {605270.0001})
Caused by mutations in the hexosaminidase A, alpha polypeptide gene (HEXA, {272800.0001})
Caused by mutations in the holocarbyoxylase synthetase gene (HLCS, {253270.0001})
Caused by mutations in the homolog of Drosophila muscle segment homeo box 1 gene (MSX1, {142983.0003})
Caused by mutations in the homolog of the Drosophila Notch 3 gene (NOTCH3, {600276.0001}).
Caused by mutations in the homolog of the mouse ank gene (ANKH, {605145.0006})
Caused by mutations in the homolog of the mouse Noggin gene (NOG, {602991.0006})
Caused by mutations in the homolog of the mouse Noggin gene (NOG, {602991.0013})
Caused by mutations in the homolog of the mouse pink-eyed dilution gene (P, {203200.0001})
Caused by mutations in the homolog of the S. cerevisiae RAD51A gene (RAD51A, {179617.0001}
Caused by mutations in the HPS1 gene ({203300})
Caused by mutations in the HPS3 gene ({606118})
Caused by mutations in the HPS4 gene ({606682})
Caused by mutations in the HPS5 gene ({607521})
Caused by mutations in the HPS6 gene ({607522})
Caused by mutations in the human homolog of the mouse progressive ankylosis gene (ANKH, {605146.0001})
Caused by mutations in the hydroxymethylbilane synthase gene (HMBS, {176000.0001})
Caused by mutations in the hypoxanthine phosphoribosyltransferase gene (HPRT1, {308000.0004})
Caused by mutations in the iduronate-2-sulfatase gene (IDS, {309900.0001})
Caused by mutations in the Indian hedgehog gene (IHH, {600726.0001})
Caused by mutations in the inducible costimulator gene (ICOS, {605448.0001})
Caused by mutations in the interferon regulatory factor 6 gene (IRF6, {607199.0001})
Caused by mutations in the interleukin receptor gamma chain gene (IL2RG, {308380.0001})
Caused by mutations in the interleukin-2 receptor, gamma chain, gene (IL2RG, {308380.0008})
Caused by mutations in the KCNQ1-overlapping transcript 1 gene (KCNQ10T1, {604115.0001})
Caused by mutations in the keratin 17 gene (KRT17, {148069.0001})
Caused by mutations in the keratin 17 gene (KRT17, {148069.0004})
Caused by mutations in the keratin 6B gene (KRT6B, {148042.0001})
Caused by mutations in the kindlin 1 gene (KIND1, {607900.0001})
Caused by mutations in the L1 cell adhesion molecule gene (L1CAM, {308840.0001})
Caused by mutations in the laforin gene (EPM2A, {607566.0001})
Caused by mutations in the lamin A/C gene (LMNA, {150330.0001})
Caused by mutations in the lamin B receptor gene (LBR, {600024.0001})
Caused by mutations in the lecithin:cholesterol acyltransferase gene (LCAT, {606967.0001}).
Caused by mutations in the leukemia inhibitory factor receptor gene (LIFR, {151443.0001})
Caused by mutations in the LIM homeo box transcription factor 1, beta gene (LMX1B, {602575.0001})
Caused by mutations in the limbin gene (EVC2, {607261.0009})
Caused by mutations in the liver glycogen phosphorylase gene (PYG1, {232700.0001})
Caused by mutations in the liver phosphorylase alpha-2 subunit gene (PHKA2, {306000.0001})
Caused by mutations in the long-chain base subunit 1 of the serine palmitoyltransferase gene (SPTLC1, {605712.0001})
Caused by mutations in the low density lipoprotein receptor gene (LDLR, {143890.0001})
Caused by mutations in the low density lipoprotein receptor-related protein-5 gene (LRP5, {603506.0001})
Caused by mutations in the lysosomal trafficking regulator gene (CHS1, {214500.0001})
Caused by mutations in the malin gene (NHLRC1, {608072.0001})
Caused by mutations in the malonyl-CoA decarboxylase gene (MLYCD, {606761.0001}
Caused by mutations in the mannosephosphate isomerase gene (MPI, {154550.0001})
Caused by mutations in the marvel domain-containing protein 2 gene (MARVELD2, {610572.0001})
Caused by mutations in the matrilin 3 gene (MATN3, {602109.0005})
Caused by mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene (ACADM, {607008.0001})
Caused by mutations in the menin gene (MEN1, {131100.0001})
Caused by mutations in the methyl-CpG-binding protein-2 gene (MECP2, {300005.0001})
Caused by mutations in the methylmalonyl-CoA mutase gene (MUT, {251000.0001})
Caused by mutations in the mevalonate kinase gene (MVK, {251170.0002})
Caused by mutations in the microcephalin gene (MCPH1, {607117.0002})
Caused by mutations in the microphthalmia-associated transcription factor gene (MITF, {156845.0001})
Caused by mutations in the microphthalmia-associated transcription factor gene (MITF, {156845.0006})
Caused by mutations in the midline 1 gene (MID1, {300000.0001})
Caused by mutations in the mitochondrial ATP synthase 6 gene (MTATP6, {516060.0001})
Caused by mutations in the mitochondrial RNA-processing endoribonuclease gene (RMRP, {157660.0001})
Caused by mutations in the mitochondrial transfer RNA-leucine gene (MTTL1
Caused by mutations in the mitofusin 2 gene (MFN2, {608507.0009})
Caused by mutations in the MMACHC gene (MMACHC gene ({609831.0001}).
Caused by mutations in the MPV17 mouse homolog gene (MPV17, {136960.0001}).
Caused by mutations in the mucolipin-1 gene (MCOLN1, {605248.0001})
Caused by mutations in the muscle glycogen phosphorylase gene (PYGM, {608455.0001})
Caused by mutations in the muscle-specific phosphorylase kinase subunit A1 gene (PHKA1, {311870.0001})
Caused by mutations in the myelin protein zero gene (MPZ, {159440.0016})
Caused by mutations in the myeloperoxidase gene (MPO, {606989.0001}).
Caused by mutations in the myosin VA gene (MYO5A, {160777.0002})
Caused by mutations in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, {160775.0010})
Caused by mutations in the myotubularin gene (MTM1, {300415.0001}).
Caused by mutations in the N-acetyl-alpha-D-glucosaminidase gene (NAGLU, {609701.0001})
Caused by mutations in the N-acetylglucosamine-6-sulfatase gene (GNS, {607664.0001})
Caused by mutations in the N(5,10)-methylenetetrahydrofolate reductase gene (MTHFR, {607093.0001})
Caused by mutations in the NAD(P)H steroid dehydrogenase-like protein gene (NSDHL, {300275.0001})
Caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN, {164840.0001})
Caused by mutations in the neurofibromin gene (NF1, {162200.0001})
Caused by mutations in the neurofibromin gene (NF1, {162200.0010})
Caused by mutations in the NF-kappa-B essential modulator gene (IKBKG, {300248.0001})
Caused by mutations in the NHS gene (NHS, {300457.0001})
Caused by mutations in the Nijmegen breakage syndrome gene (NBS1, {602667.0001})
Caused by mutations in the nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 gene (NSD1, {606681.0006})
Caused by mutations in the OCRL1 gene (OCRL1, {300535.0001})
Caused by mutations in the ornithine aminotransferase gene (OAT, {258870.0001})
Caused by mutations in the ornithine transcarbamylase gene (OTC, {311250.0001})
Caused by mutations in the otoferlin gene (OTOF, {603681.0001})
Caused by mutations in the paired box 3 gene (PAX3, {193500.0001})
Caused by mutations in the paired box gene 6 gene (PAX6, {607108.0001})
Caused by mutations in the paired box homeotic gene 2 (PAX2, {167409.0001})
Caused by mutations in the paired-like homeodomain transcription factor-2 gene (PITX2, {601542.0001})
Caused by mutations in the parafibromin gene (HRPT2, {607393.0001})
Caused by mutations in the parathyoid hormone receptor 1 gene (PTHR1, {168468.0001})
Caused by mutations in the parathyroid hormone receptor 1 gene (PTHR1, {168468.0003})
Caused by mutations in the parkin gene (PARK2, {602544.0001})
Caused by mutations in the peptidase D gene (PEPD, {170100.0001})
Caused by mutations in the peripheral myelin protein-22 gene (PMP22, {601097.0001})
Caused by mutations in the peroxisomal acyl-CoA oxidase gene (ACOX1, {609751.0001})
Caused by mutations in the peroxisomal biogenesis factor-7 gene (PEX7, {601757.0001})
Caused by mutations in the PHD finger protein 6 gene (PHF6, {300414.0001})
Caused by mutations in the PKHD1 gene ({606702.0001}).
Caused by mutations in the plasma cholesteryl ester transfer protein gene (CETP, {118470.0001})
Caused by mutations in the platelet glycoprotein Ib, alpha polypeptide, gene (GP1BA, {231200.0001})
Caused by mutations in the platelet glycoprotein IIIa gene (ITGB3, {173470.0001})
Caused by mutations in the plectin 1 gene (PLEC1, {601282.0005})
Caused by mutations in the polycystin 1 gene (PKD1, {601313.0001})
Caused by mutations in the polycystin 2 gene (PKD2, {173910.0001})
Caused by mutations in the potassium inwardly-rectifying channel, subfamily J, member 1 gene (KCNJ1, {600359.0001})
Caused by mutations in the potassium voltage-gated channel, Isk-related subfamily, member 1 gene (KCNE1, {176261.0003})
Caused by mutations in the presenilin 1 gene (PSEN1, {104311.0001})
Caused by mutations in the presenilin 2 gene (PSEN2, {600759.0001})
Caused by mutations in the prion protein gene (PRNP, {176640.0001})
Caused by mutations in the prion protein gene (PRNP, {176640.0018})
Caused by mutations in the procollagen I N-proteinase gene (ADAMTS2, {604539.0001})
Caused by mutations in the properdin P factor gene (PFC, {300383.0001})
Caused by mutations in the propionyl Coenzyme A carboxylase, alpha polypeptide gene (PCCA, {232000.0001})
Caused by mutations in the propionyl Coenzyme A carboxylase, beta polypeptide gene (PCCB, {232050.0001})
Caused by mutations in the protease inhibitor 1 gene (PI, {107400.0001})
Caused by mutations in the protein O-mannose beta-1,2-N-acetylglucosaminyltransferase gene (POMGNT1, {606822.0001})
Caused by mutations in the protein O-mannosyltransferase-1 gene (POMT1, {607423.0001})
Caused by mutations in the protein tyrosine kinase-binding protein gene (TYROBP, {604142.0001})
Caused by mutations in the protein tyrosine phosphatase, nonreceptor-type, 11 gene (PTPN11, {176876.0001})
Caused by mutations in the proteolipid protein 1 gene (PLP1, {300401.0001}).
Caused by mutations in the proteolipid protein 1 gene (PLP1, {300401.0012})
Caused by mutations in the protoporphyrinogen oxidase gene (PPOX, {600923.0001})
Caused by mutations in the pseudouridine synthase-1 gene (PUS1, {608109.0001})
Caused by mutations in the purine nucleoside phosphorylase gene (PNP, {164050.0001})
Caused by mutations in the putative protein O-mannosyltransferase 2 gene (POMT2, {607439.0001})
Caused by mutations in the pyrin gene (MEFV, {608107.0001})
Caused by mutations in the Ras-associated protein RAB27A gene (RAB27A, {603868.0001})
Caused by mutations in the recombinase activating gene 1 (RAG1, {179615.0001)}
Caused by mutations in the recombinase activating gene 1 (RAG1, {179615.0005})
Caused by mutations in the recombinase activating gene 2 (RAG2, {179616.0001})
Caused by mutations in the recombinase activating gene 2 (RAG2, {179616.0003})
Caused by mutations in the RecQ protein-like 2 gene (RECQL2, {604611.0001}
Caused by mutations in the RecQ protein-like 3 gene (RECQL3, {604610.0001})
Caused by mutations in the red cell membrane band 3 gene (BND3, {109270.0003})
Caused by mutations in the red cell pyruvate kinase gene (PKRL, {609712.0001}).
Caused by mutations in the Req-like DNA helicase type 4 gene (REQL4, {603780.0001})
Caused by mutations in the RET protoncogene (RET, {1645761.0001})
Caused by mutations in the RET protooncogene (RET, {164761.0014})
Caused by mutations in the ribosomal protein S6 kinase, 90kD, polypeptide 3 gene (RPS6KA3, {300075.0001})
Caused by mutations in the ryanodine receptor 1 gene (RYR1, {180901.0003})
Caused by mutations in the ryanodine receptor gene (RYR1, {180901.0001})
Caused by mutations in the sclerostin gene (SOST, {605740.0001})
Caused by mutations in the secreted LY6/uPAR-related protein 1 gene (SLURP1, {606119.0001})
Caused by mutations in the sedlin gene (SEDL, {300202.0001})
Caused by mutations in the seipin gene (BSCL2, {606158.0001}).
Caused by mutations in the selenoprotein N-1 gene (SEPN1, {606210.0001})
Caused by mutations in the senataxin gene (SETX, {608465.0001})
Caused by mutations in the sequestosome 1 gene (SQSTM1, {601530.0001})
Caused by mutations in the serine/threonine protein kinase 11 gene (STK11, {602216.0001})
Caused by mutations in the SH2 domain protein 1A gene (SH2D1A, {308210.0001})
Caused by mutations in the short stature homeo box gene (SHOX, {312865.0002})
Caused by mutations in the short stature homeo box gene (SHOX, {312865.0003})
Caused by mutations in the sodium channel, voltage-gated, type V, alpha polypeptide gene (SCN5A, {600163.0009})
Caused by mutations in the sodium channel, voltage-gated, type V, alpha subunit gene (SCN5A, {600163.0004})
Caused by mutations in the solute carrier family 16, monocarboxylic acid transporter, member 1 gene (SLC16A1, {600682.0001}).
Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, {604322.0001})
Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, {604322.0002})
Caused by mutations in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, {138140.0001})
Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001})
Caused by mutations in the solute carrier family 25 (mitochondrial carrier) member 4 gene (SLC25A4, {103220.0001})
Caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, {222600.0005})
Caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (SLC26A2, {606718.0001})
Caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (SLC4A4, {603345.0001})
Caused by mutations in the spectrin beta-1 gene (SPTB, {182870.0010})
Caused by mutations in the SRY-box 9 gene (SOX9, {114290.0001})
Caused by mutations in the succinate dehydrogenase complex subunit C gene (SDHC, {602413.0001})
Caused by mutations in the succinate dehydrogenase complex subunit D gene (SDHD, {602690.0001})
Caused by mutations in the sulfite oxidase gene (SUOX, {606887.0001})
Caused by mutations in the survival of motor neuron 1 gene (SMN1, {600354.0002})
Caused by mutations in the survival of motor neuron 1 gene (SMN1, {600354.0003})
Caused by mutations in the survival of motor neuron 1 gene (SMN1, {600354.0011})
Caused by mutations in the SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A-like gene (SMARCAL1, {606622.0001})
Caused by mutations in the synaptosomal-associated protein 29kD gene (SNAP29, {604202.0001})
Caused by mutations in the T-Box 3 gene (TBX3, {601621.0001})
Caused by mutations in the T-box 4 gene (TBX4, {601719.0001})
Caused by mutations in the T-Box 5 gene (TBX5, {601620.0001})
Caused by mutations in the T-cell immune regulator 1 gene (TCIRG1, {604592.0001})
Caused by mutations in the tafazzin gene (TAZ, {300394.0001})
Caused by mutations in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, {600968.0001})
Caused by mutations in the thyroid peroxidase gene (TPO, {606765.0001})
Caused by mutations in the titin immunoglobulin domain protein gene (TTID, {604103.0002}).
Caused by mutations in the torsion dystonia-1 gene (DYT1, {605204.0001}).
Caused by mutations in the transcobalamin II gene (TCN2, {275350.0001})
Caused by mutations in the transcription factor AP-2 beta gene (TFAP2B, {601601.0001})
Caused by mutations in the transforming growth factor, beta-induced, 68kD gene (TGFBI, {601692.0004})
Caused by mutations in the triggering receptor expressed on myeloid cells-2 gene (TREM2, {605086.0001})
Caused by mutations in the tropomyosin 2 gene (TPM2, {190990.0001})
Caused by mutations in the tuberin gene (TSC2, {191092.0001})
Caused by mutations in the tubulin-specific chaperone E gene (TBCE, {604934.0001})
Caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (TNFSF5, {308230.0001})
Caused by mutations in the tumor necrosis factor receptor superfamily, member 11A (TNFRSF11A, {603499.0002})
Caused by mutations in the tumor protein 63 gene (TP63, {603273.0012})
Caused by mutations in the tumor protein p53 gene (TP53, {191170.0023})
Caused by mutations in the tumor protein p63 gene (TP63, {603273.0009})
Caused by mutations in the type II collagen alpha-1 polypeptide (COL2A1, {120140.0012})
Caused by mutations in the type V collagen, alpha-1 gene (COL5A1, {120215.0005}
Caused by mutations in the type V collagen, alpha-2 gene (COL5A2, {120190.0003})
Caused by mutations in the UDP-galactose-4-epimerase gene, 'severe' form (GALE, {606953.0008})
Caused by mutations in the UDP-galaltose-4-epimerase gene, 'mild' form (GALE, {606953.0001}).
Caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, {603824.0001})
Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1, {191740.0001})
Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1, {191740.0005})
Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1A1, {191740.0010})
Caused by mutations in the vitamin D 25-hydroxylase gene (CYP2R1, {608713.0001})
Caused by mutations in the vitamin D receptor gene (VDR, {601769.0001})
Caused by mutations in the voltage-dependent P/Q type calcium channel alpha-1A subunit gene (CACNA1A, {601011.0001})
Caused by mutations in the voltage-gated sodium channel type I, alpha polypeptide gene (SCN1A, {182389.0015})
Caused by mutations in the von Willebrand-cleaving protease gene (ADAMTS13, {604134.0001}).
Caused by mutations in the Wilms tumor 1 gene (WT1, {607102.0001}).
Caused by mutations in the Wilms tumor 1 gene (WT1, {607102.0018}).
Caused by mutations in the Wilms tumor 1 gene (WT1, {607102.0021})
Caused by mutations in the Wiskott-Aldrich syndrome protein gene (WASP, {301000.0001})
Caused by mutations in the WNT1-inducible signalling pathways protein 3 (WISP3, {603400.0001})
Caused by mutations in the wolframin gene (WFS1, {222300.0001})
Caused by mutations in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 gene (B4GALT7, {604327.0001})
Caused by mutations in the zinc finger transcription factor TRPS1 (TRPS1, {604386.0001})
Caused by mutations in the zinc finger transcription factor TRPS1 gene (TRPS1, {604386.0007})
Caused by mutations in Treacle gene (TCOF1, {154500.0001})
Caused by paternally-inherited inactivating GNAS1 mutations
Caused by simultaneous homozygous mutations in both the chloride channel, kidney, A gene (CLCNKA, {602024.0001}) and chloride channel, kidney, B gene (CLCNKB, {602023.0008})
Caused by somatic deletion of 1 allele of the ribosomal protein S14 gene (RPS14, {130620})
Caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (GNAS1, {139320.0008})
Caused by somatic mutation in the beta-1 catenin gene (CTNNB1, {116806.0006})
Caused by somatic mutation in the GNAS gene (GNAS1, {139320.0009})
Caused by somatic mutation in the janus kinase 2 gene (JAK2
Caused by somatic mutations in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (GNAS1, {139320.0008})
caused by the weather
Caused by translocation disrupting the fibulin-1 gene (FBLN1, {135820})
Caused by trinucleotide repeat expansion (CAG)n in the ataxin-3 gene (MJD, {607047.0001}).
Caused by trinucleotide repeat expansion (CAG)n in the DRPLA gene (DRPLA, {607462.0001})
Caused by triplication of the alpha-synuclein gene (SNCA, {163890.0003})
Caused hospitalized
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causes of Alcohol or Other Drug Use, Abuse and Dependence
causes of Alcohol or Other Drugs use, abuse, and dependence (Cause of Alcohol or Other Drug Use, Abuse and Dependence )
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