Diko : en:caused by mutation in the growth factor-independent 1b gene (gfi1b, 604383.0001)

en:caused by mutation in the growth factor-independent 1b gene (gfi1b, 604383.0001)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3806042

Associations d'idées

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1000

en:caused by mutation in the testis-specific protein-like 1 gene (tspyl1, 604714.0001)

•

en:caused by mutation in the r-spondin family, member 4 gene (rspo4, 610573.0001)

•

en:caused by mutation in the set-binding protein-1 gene (setbp1, 611060.0001)

•

en:caused by mutations in the matrilin 3 gene (matn3, 602109.0005)

•

en:caused by mutation in the adaptin, beta-3a gene (adtb3a, 603401.0001)

•

en:caused by mutation in the alpha-b crystallin gene (cryab, 123590.0006)

•

en:caused by mutation in the atpase, cu++ transporting, alpha polypeptide gene (atp7a, 300011.0002)

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0006)

•

en:caused by mutation in the mitochondrial ribosomal protein s16 (mrps16, 609204.0001)

•

en:caused by mutation in the mothers against decapentaplegic, drosophila homolog of, 4 gene (smad4, 600993.0007)

•

en:caused by mutation in the neurofibromin gene (nf1, 162200.0001)

•

en:caused by mutation in the nuclear receptor subfamily 3, group c, member 2 gene (nr3c2, 600983.0001)

•

en:caused by mutation in the peripheral myelin protein-22 gene (pmp22, 601097.0006)

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0007)

•

en:caused by mutation in the homolog of the s. cerevisiae alg11 gene (alg11, 613666.0001)

•

en:caused by mutation in the taf2 ran polymerase ii, tata box-binding protein-associated factor, 150kd gene (taf2, 604912.0001)

•

en:caused by mutation in the guanine nucleotide-binding protein (g-protein), alpha-inhibiting activity polypeptide-3 gene (gnai3, 139370.0001])

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0005)

•

en:caused by mutation in the ribonucleotide reductase, m2 b gene (rrm2b, 604712.0001)

•

en:caused by mutation in the nonerythrocytic alpha-spectrin 1 gene (sptan1, 182810.0001)

•

en:caused by mutation in the kinesin family member 22 gene (kif22, 603213.0001)

•

en:caused by mutation in the homolog of the e. coli mutl 1 gene (mlh1, 120436.0003)

•

en:caused by mutation in the keratin 10 gene (krt10, 148080.0001)

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide gene (gnas, 139320.0002)

•

en:caused by mutation in the glycyl trna synthetase gene (gars, 600287.0002)

•

en:caused by mutation in the fibroblast growth factor 20 gene (fgf20, 605558.0002)

•

en:caused by mutation in the caveolin 3 gene (cav3, 601253.0007)

•

en:caused by disruption of the calmodulin-binding transcription activator 1 gene (camta1, 611501.0001)

•

en:caused by mutation in the platelet-derived growth factor receptor alpha gene (pdgfra, 173490.0001)

•

en:caused by mutation in the homolog of the gle1, (s. cerevisiae) rna export mediator gene (gle1, 603371.0001)

•

en:caused by mutation in the phosphodiesterase 6h, cgmp-specific, cone, gamma gene (pde6h, 601190.0001)

•

en:caused by mutation in the phosphatidylinositol glycan, class a gene (piga, 311770.0011)

•

en:caused by mutation in the mitochondrial trna (lysine) gene (mttk, 590060.0001)

•

en:caused by mutation in the integrin, beta-3 gene (itgb3, 173470.0018)

•

en:caused by mutation in the homolog of the mouse tubby gene (tub, 601197.0001)

•

en:caused by duplication of 0.9 - 1.2 mb on 8q22.1

•

en:caused by mutation in the homolog of s. cerevisiae atp-dependent dna helicase hfm1 gene (hfm1, 615684.0001)

•

en:caused by mutation in the gata-binding protein 1 gene (gata1, 305371.0006)

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0001)

•

en:caused by mutation in the endothelin-3 gene (edn3, 131242.0001)

•

en:caused by mutation in the branched chain keto acid dehydrogenase e1, beta polypeptide gene (bckdhb, 248611.0001)

•

en:caused by mutation in the beta subunit of the nonvoltage-gated sodium channel 1 gene (scnn1b, 600760.0003)

•

en:caused by mutation in the solute carrier family 35, member c1 gene (slc35c1, 605881.0001)

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 1 gene (kcnq1, 607542.0032)

•

en:caused by mutation in the cyclin d2 gene (ccnd2, 123833.0001)

•

en:caused by mutation in the type iv, voltage-gated sodium channel, alpha-subunit gene (scn4a, 603967.0009)

•

en:caused by mutation in the edar-associated death domain gene (edaradd, 606603.0001)

•

en:caused by mutation in the tyrosinase gene (tyr, 606933.0001)

•

en:caused by mutation in the transcription factor-12 gene (tcf12, 600480.0001)

•

en:caused by mutation in the rpgrip1-like gene (rpgrip1l, 610937.0011)

•

en:susceptibility conferred by mutation in the peripherin gene (prph, 170710.0001)

•

en:caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (pnkp, 605610.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (myh9, 160775.0001)

•

en:caused by mutation in the homolog of the s. pombe rad21 gene (rad21, 606462.0001)

•

en:caused by mutation in the was gene (was, 300392.0004)

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0015)

•

en:caused by mutation in the calcium- and integrin-binding protein 2 gene (cib2, 605564.0001)

•

en:caused by mutation in the biliverdin reductase a gene (blvra, 109750.0001)

•

en:caused by mutation in the annexin a5 gene (anxa5, 131230.0001)

•

en:caused by mutation in the adenosine monophosphate deaminase 2 gene (ampd2, 102771.0002)

•

en:caused by mutation in the 135-kd centrosomal protein gene (cep135, 611423.0001)

•

en:susceptibility conferred by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0006).

•

en:caused by mutation in the caspase 8 gene (casp8, 601763.0001)

•

en:caused by mutation in the immunoglobulin mu-binding protein 2 gene (ighmbp2, 600502.0010)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase-protein gene (uqcrb, 191330.0001).

•

en:caused by mutation in the sry-box 17 gene (sox17, 610928.0001)

•

en:caused by mutation in the short stature homeo box gene (shox, 312865.0003)

•

en:caused by mutation in the receptor expression-enhancing protein-1 gene (reep1, 609139.0001)

•

en:caused by mutation in the nuclear receptor subfamily 2, group f, member 2 gene (nr2f2, 107773.0001)

•

en:caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (ltbp2, 602091.0012)

•

en:caused by mutation in the interleukin 10 receptor, alpha gene (il10ra, 146933.0001)

•

en:caused by mutation in the elongation of very long chain fatty acids-like 4 gene (elovl4, 605512.0005)

•

en:caused by mutation in the homolog of the drosophila period 2 gene (per2, 603426.0001)

•

en:caused by mutation in the homolog of chlamydomonas dynein regulatory complex, subunit 1 gene (drc1, 615288.0001)

•

en:caused by mutation in the homeobox-hb9 gene (hlxb9, 142994.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 1 gene (fgfr1, 136350.0011)

•

en:caused by mutation in the component of oligomeric golgi complex 4 gene (cog4, 606976.0001)

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0014).

•

en:caused by mutation in the atpase, na+k+ transporting, alpha-2 polypeptide gene (atp1a2, 182340.0001)

•

en:caused by mutation in the apolipoprotein a-i gene (apoa1, 107680.0001)

•

en:caused by a deletion of 11q23

•

en:caused by mutations in the succinate dehydrogenase complex subunit d gene (sdhd, 602690.0001)

•

en:caused by mutation in the alpha-synuclein gene (snca, 163890.0004)

•

en:caused by mutations in merlin (nf2, 101000.0001)

•

en:caused by mutation in the phospholipase c, beta-4 gene (plcb4, 600810.0001)

•

en:susceptibility conferred by mutations in the mhc class ii transactivator gene (mhc2ta, 600005.0007)

•

en:caused by mutation in the beta acid glucosidase 2 gene (gba2, 609471.0001)

•

en:caused by mutation in the tyrosine kinase 2 gene (tyk2, 176941.0001)

•

en:caused by mutation in the tumor necrosis factor receptor superfamily member 1a gene (tnfrsf1a, 191190.0001).

•

en:caused by mutation in the tho complex, subunit 6 gene (thoc6, 615403.0001)

•

en:caused by mutation in the protein kinase, interferon-inducible double-stranded rna-dependent activator gene (prkra, 603424.0001)

•

en:caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (kcna1, 176260.0001)

•

en:linked to a locus at 7p15-p11.2.

•

en:caused by mutation in the microphthalmia-associated transcription factor gene (mitf, 156845.0001)

•

en:caused by mutation in the l1 cell adhesion molecule gene (l1cam, 308840.0004)

•

en:caused by mutation in the filamin c gene (flnc, 102565.0003)

•

en:caused by mutation in the dynein, axonemal, light chain 1 gene (dnal1, 610062.0001)

•

en:caused by mutation in the cyclin-dependent kinase-like 5 gene (cdkl5, 300203.0001)

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0001)

•

en:caused by mutation in the cln2 gene (cln2, 607998.0001)

•

en:caused by mutation in the cd3 antigen, delta subunit gene (cd3d, 186790.0001)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0017)

•

en:caused by mutation in the family with sequence similarity 83, member h gene (fam83h, 611927.0001)

•

en:caused by mutation in the nucleolar protein-3 gene (nol3, 605235.0001)

•

en:caused by mutation in the leucine- and proline-enriched proteoglycan 1 gene (lepre1, 610339.0001)

•

en:caused by mutation in the homolog of the yeast cleavage and polyadenylation factor i subunit 1 gene (clp1, 608757.0001)

•

en:caused by mutation in the homeobox d13 gene (hoxd13, 142989.0001)

•

en:caused by mutation in the gap junction protein, gamma-2 gene (gjc2, 608803.0008)

•

en:caused by mutation in the gamma sarcoglycan gene (sgcg, 253700.0001)

•

en:caused by mutation in the alsin gene (als2, 606352.0001)

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0008)

•

en:caused by mutation in the deformed epidermal autoregulatory factor 1 homolog gene (deaf1, 602635.0001)

•

en:caused by mutation in the corneodesmosin gene (cdsn, 602593.0003)

•

en:caused by mutation in the centromeric protein j gene (cenpj, 609279.0004)

•

en:caused by mutations in the vitamin d 25-hydroxylase gene (cyp2r1, 608713.0001)

•

en:caused by 750kb to 2.7mb deletion of chromosome 19q13.11

•

en:caused by mutation in the pyrin domain-containing-1 of the nlr family gene (nlrp1, 606626.0002)

•

en:caused by mutation in the phosphatidylinositol polyphosphate 5-phosphatase gene (ocrl, 300535.0005)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 6 gene (ndufs6, 603848.0001)

•

en:caused by a pentanucleotide repeat expansion (attct)n in the ataxin 10 gene (atxn10, 603516.0001).

•

en:caused by mutation in the voltage-gated sodium channel type i, alpha polypeptide gene (scn1a, 182389.0001)

•

en:caused by mutation in the armadillo repeat-containing protein 4 gene (armc4, 615408.0001)

•

en:caused by mutation in the tumor protein p73-like gene (tp73l, 603273.0011)

•

en:caused by mutation in the solute carrier family 52 (riboflavin transporter), member 3 gene (slc52a3, 613350.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4 gene (slc25a4, 103220.0005)

•

en:caused by mutation in the phosphoglycerate dehydrogenase gene (phgdh, 606879.0007)

•

en:caused by mutation in the otogelin gene (otog, 064487.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-12 gene (pex12, 601758.0001)

•

en:caused by mutation in the medium-chain acyl-coa dehydrogenase (mcad) gene (acadm, 607008.0001)

•

en:caused by mutation in the human homolog of the mouse progressive ankylosis gene (ankh, 605145.0001)

•

en:caused by mutation in the homolog of the drosophila jagunal 1 gene (jagn1, 616012.0001)

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide, olfactory type gene (gnal, 139312.0001)

•

en:caused by mutation in the dedicator of cytokinesis-6 gene (dock6, 614194.0001)

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0045)

•

en:caused by mutation in the arylhydrocarbon-interacting receptor protein-like 1 gene (aipl1, 604392.0001)

•

en:caused by mutation in the methyl-cpg-binding protein-2 gene (mecp2, 300005.0001)

•

en:caused by mutation in the renin gene (ren, 179820.0002)

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase gene (plod, 153454.0001)

•

en:caused by mutation in the polymerase i, rna, subunit d gene (polr1d, 613715.0001)

•

en:caused by mutation in the phosphodiesterase 11a gene (pde11a, 604961.0001)

•

en:caused by mutation in the paired-like homeodomain transcription factor-1 gene (pitx1, 602149.0001)

•

en:caused by mutation in the mitofusin 2 gene (mfn2, 608507.00001)

•

en:caused by mutation in the angiopoietin-like-3 gene (angptl3, 604774.0001)

•

en:caused by mutation in the homolog of mouse peripherin 2 (prph2, 179605.0009)

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0002)

•

en:caused by mutation in the cytochrome c oxidase, subunit viib gene (cox7b, 300885.0001)

•

en:caused by mutation in the complement factor d gene (cfd, 134350.0001)

•

en:caused by mutation in the ceramide synthase 1 gene (cers1, 606919.0001)

•

en:caused by mutation in the c1 esterase inhibitor gene (c1nh, 106100.0001)

•

en:caused by mutation in the beta-actin gene (actb, 102630.0001).

•

en:caused by mutation in the solute carrier family 52 (riboflavin transporter), member 2 gene (slc52a2, 607882.0001)

•

en:caused by mutation in the ring finger protein 216 gene (rnf216, 609948.0001)

•

en:caused by mutation in the beta-synuclein gene (sncb, 602569.0001)

•

en:caused by mutation in the transmembrane mucin 1 gene (muc1, 158340.0001).

•

en:caused by mutation in the dicarbonyl/l-xylulose reductase gene (dcxr, 608347.0001)

•

en:caused by duplication of at least 325kb on 10q24

•

en:caused by mutation in the tripartite motif-containing protein 32 gene (trim32, 602290.0002)

•

en:caused by mutation in the pyridoxamine 5-prime-phosphate oxidase gene (pnpo, 603287.0001)

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 1 gene (kcnq1, 192500.0013)

•

en:caused by mutation in the neutrophil cytosolic factor-1 gene, p47-phox (ncf1, 608512.0001)

•

en:caused by mutation in the mitochondrial complex i, subunit nd5 gene (mtnd5, 516005.0004)

•

en:caused by mutation in the methylthioadenosine phosphorylase gene (mtap, 156540.0001)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0018)

•

en:caused by mutation in the cgmp-dependent regulatory protein kinase, type 1 gene (prkg1, 176894.0001)

•

en:caused by mutation in the cardiac myosin-binding protein-c gene (mybpc3, 600958.0024)

•

en:caused by mutation in the beta-3 gap junction protein gene (gjb3, 603324.0001)

•

en:caused by mutation in the alpha subunit of the voltage-gated sodium channel type i gene (scn1a, 182389.0007)

•

en:caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (hpd, 609695.0005)

•

en:caused by mutation in serine protease 56 gene (prss56, 613858.0001)

•

en:caused by mutations in the cholinergic receptor, nicotinic, epsilon polypeptide gene (chrne, 100725.0003)

•

en:caused by mutations in the myosin, heavy polypeptide-9, nonmuscle gene (myh9, 160775.0010)

•

en:caused by mutation in the caveolin-3 gene (cav3, 601253.0001)

•

en:caused by mutation in the cysteine- and glycine-rich protein 3 gene (csrp3, 600824.0002)

•

en:caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2, 300005.0009).

•

en:caused by mutation in the keratin 14 gene (krt14, 148066.0005)

•

en:caused by mutation in the katanin, p80 subunit, b1 gene (katnb1, 602703.0001)

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0005)

•

en:caused by mutation in the folliculin gene (flcn, 607273.0001)

•

en:caused by mutation in origin recognition complex, subunit 6, gene (orc6, 607213.0001)

•

en:caused by mutation in the cln3 gene (cln3, 607042.0001)

•

en:caused by mutation in the chromosome 19 open reading frame 12 gene (c19orf12, 614297.0001)

•

en:caused by mutation in the anoctamin 5 gene (ano5, 608662.0004)

•

en:caused by mutation in the alanyl-trna synthetase gene (aars, 601065.0001)

•

en:caused by mutation in chromosome 6 open reading frame 221 gene (c6orf221, 611687.0001)

•

en:caused by mutations in the peroxisomal acyl-coa oxidase gene (acox1, 609751.0001)

•

en:caused by mutations in the cathepsin k gene (ctsk, 601105.0001)

•

en:caused by mutation in the otogelin-like protein gene (otogl, 614925.0001)

•

en:caused by mutation in the nata catalytic subunit n-alpha-acetyltransferase-10 gene (naa10, 300013.0001)

•

en:caused by mutations in the alpha subunit of the type iv voltage-gated sodium channel gene (scn4a, 603967.0001)

•

en:caused by mutation in the usherin gene (ush2a, 608400.0001).

•

en:caused by mutation in the fibroblast growth factor 10 gene (fgf10, 602115.0003)

•

en:caused by mutation in the solute carrier family 9, isoform a3, regulatory factor 1 gene (slc9a3r1, 604990.0001)

•

en:caused by mutation in the zinc finger mynd domain-containing protein 10 (zmynd10, 607070.0001)

•

en:caused by mutation in the pyruvate carboxylase gene (pc, 608786.0001)

•

en:caused by mutation in the nephrocystin 1 gene (nphp1, 607100.0001)

•

en:caused by mutation in the multiple epidermal growth factor-like domains-8 gene (megf8, 604267.0001)

•

en:caused by mutation in the homolog of the drosophila mothers against decapentaplegic 9 gene (smad9, 603295.0001)

•

en:caused by mutation in the rna-specific adenosine deaminase gene (adar, 146920.0007)

•

en:caused by mutation in the family with sequence similarity 134, member b gene (fam134b, 613114.0001)

•

en:caused by mutation in the collagen, type xxvii, alpha-1 gene (col27a1, 608461.0001)

•

en:caused by mutation in the camp-dependent protein kinase, catalytic, gamma gene (prkacg, 176893.0001)

•

en:caused by mutation in the bbs7 gene (bbs7, 607590.0001)

•

en:caused by mutation in the 290-kd centrosomal protein gene (cep290, 610142.0004).

•

en:caused by mutation in the 164-kd centrosomal protein gene (cep164, 614848.0001)

•

en:caused by 1-mb duplication on chromosome 2q31.1

•

en:caused by mutation in the family with sequence similarity 123, member b gene (fam123b, 300647.0001)

•

en:caused by mutation in the multiple epidermal growth factor-like domains 10 gene (megf10, 612453.0001)

•

en:caused by mutation in the voltage-gated potassium channel, kqt-like subfamily, member 2 gene (kcnq2, 602235.0007)

•

en:caused by mutation in the valosin-containing protein gene (vcp, 601023.0001)

•

en:caused by mutation in the vaccinia-related kinase 1 gene (vrk1, 602168.0001)

•

en:caused by mutation in the transforming growth factor, beta-3 gene (tgfb3, 190230.0001)

•

en:caused by mutation in the cd36 antigen gene (cd36, 173510.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 2 gene (lrp2, 600073.0001)

•

en:caused by mutation in the janus kinase 3 gene (jak3, 600173.0001)

•

en:caused by mutation in the hcls1-associated protein x1 (hax1, 605998.0001).

•

en:caused by mutation in the cytochrome p450, subfamily xxvic, polypeptide 1 gene (cyp26c1, 608428.0001)

•

en:caused by mutation in the alpha-1 subunit of the glycine receptor gene (glra1, 138491.0001)

•

en:a contiguous gene deletion syndrome involving deletion of 1.4mb on chromosome 17q11.2

•

en:full trisomy 21, 94%

•

en:caused by mutation in the collagen vi, alpha-2 polypeptide gene (col6a2, 120240.0001)

•

en:caused by mutations in the myelin protein zero gene (mpz, 159440.0016)

•

en:caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (lrp5, 603506.0014)

•

en:caused by mutation in the taf4b rna polymerase ii, tata box-binding protein-associated factor, 105kd gene (taf4b, 601689.0001)

•

en:caused by mutation in the alpha-b crystallin gene (cryab, 123590.0005)

•

en:caused by mutation in the solute carrier family 16, member 1 gene (slc16a1, 600682.0003)

•

en:caused by mutation in the paired box 3 gene (pax3, 606597.0001)

•

en:caused by mutation in the mitochondrial trna serine 1 gene (mtts1, 590080.0003)

•

en:caused by mutation in the set-binding factor-2 gene (sbf2, 607697.0001)

•

en:caused by mutation in the isovaleryl co-a dehydrogenase gene (ivd, 607036.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor-6 gene (prpf6, 613979.0001)

•

en:caused by mutation in the homolog of the drosophila dicer 1 gene (dicer1, 606241.0001)

•

en:caused by mutation in the bridging integrator 1 gene (bin1, 601248.0001)

•

en:caused by mutation in the atr-x gene (atrx, 300032.0001)

•

en:caused by mutation in the natriuretic peptide precursor-a gene (nppa, 108780.0003)

•

en:caused by mutation in the mitochondrial rna-processing endoribonuclease (rmrp, 157660.0018)

•

en:caused by mutation in the mitochondrial trna-serine 2 gene (mtts2, 590085.0002)

•

en:caused by mutation in the myc-induced mitochondrial protein gene (mmtn, 609653.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0018)

•

en:caused by mutation in the n-acetylglutamate synthase gene (nags, 608300.0001)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 alpha subcomplex 9 gene (ndufa9, 603834.0001)

•

en:caused by mutation in the nadh dehydrogenase, subunit 6 gene (mtnd6, 516006.0002)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 3 gene (ndufv3, 603846.0001)

•

en:caused by mutation in the pancreas/duodenum homeobox protein 1 gene (pdx1, 600733.0001)

•

en:caused by mutation in the natriuretic peptide receptor 2 gene (npr2, 108961)

•

en:caused by mutation in the nicotinamide nucleotide adenylyltransferase-1 gene (nmnat1, 608700.0001)

•

en:caused by mutation in the nuclear factor i/x gene (nfix, 164005.0002)

•

en:caused by mutation in the ornithine transcarbamylase gene (otc, 311250.0001)

•

en:caused by mutation in the paired box gene 6 gene (pax6, 607108.0001)

•

en:caused by mutation in the mitochondrial complex i, subunit nd4 gene (mtnd4, 516003.0003)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, catalytic subunit delta gene (pik3cd, 602839.0001)

•

en:caused by mutation in the plasma cholesteryl ester transfer protein gene (cetp, 118470.0001)

•

en:caused by mutation in the polycystin 2 gene (pkd2, 173910.0001)

•

en:caused by mutation in the polyhomeotic-like 1 gene (phc1, 602978.0001)

•

en:caused by mutation in the mitochondrial glutamic acid transfer rna gene (mtte, 590025.0002)

•

en:caused by mutation in the major facilitator superfamily domain-containing protein-8 gene (mfsd8, 611124.0001)

•

en:caused by mutation in the mitochondrial apoptogenic protein 1 gene (apopt1, 616003.0001)

•

en:caused by mutation in the kinesin family member 11 gene (kif11, 148760.0001)

•

en:caused by mutation in the hps5 gene (hps5, 607521)

•

en:caused by mutation in the iduronate-2-sulfatase gene (ids, 309900.0001)

•

en:caused by mutation in the immunoglobulin superfamily member-3 gene (igsf3, 603491.0001)

•

en:caused by mutation in the insulin-like growth factor-1 receptor gene (igf1r, 147370.0001)

•

en:caused by mutation in the integrin, alpha-8 gene (itga8, 604063.0001)

•

en:caused by mutation in the intestinal sodium/glucose transporter gene (slc5a1, 182380.0001)

•

en:caused by mutation in the jagged 1 gene (jag1, 601920.0001)

•

en:caused by mutation in the kelch-like 41 gene (klhl41, 607701.0001)

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0005)

•

en:caused by mutation in the kit ligand gene (kitlg, 184745.0003)

•

en:caused by mutation in the mesenchyme homeobox 1 gene (meox1, 600147.0001)

•

en:caused by mutation in the krev interaction trapped 1 gene (krit1 604214.0001).

•

en:caused by mutation in the laminin gamma-2 gene (lamc2, 150292.0001)

•

en:caused by mutation in the leucine-rich repeat-containing protein 6 gene (lrrc6, 614930.0001)

•

en:caused by mutation in the leucine-rich repeats- and immunoglobulin-like domains-containing protein 2 gene (lrig2, 608869.0001)

•

en:caused by mutation in the lysyl-trna synthetase gene (lars, 601421.0003)

•

en:caused by mutation in the potassium inwardly-rectifying channel, subfamily j, member 11 gene (kcnj11, 600937.0001)

•

en:caused by mutation in the mastermind-like domain containing 1 gene (mamld1, 300120.0001)

•

en:caused by mutation in the matrix metalloproteinase-13 gene (mmp13, 600108.0001).

•

en:caused by mutation in the melanocortin-2 receptor accessory protein gene (mrap, 609196.0001)

•

en:caused by mutation in the member-5 subfamily-j inwardly rectifying potassium channel gene (kcnj5, 600734.0002)

•

en:caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 5 gene (kcna5, 176267.0001)

•

en:caused by mutation in the ras-associated protein-28 gene (rab28, 612994.0001)

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 1 gene (kcnq1, 192500.0001)

•

en:caused by mutation in the transglutaminase-5 gene (tgm5, 603805.0001)

•

en:caused by mutation in the splicing factor 3b, subunit 4 gene (sf3b4, 605593.0001)

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605921.0008)

•

en:caused by mutation in the stt3, subunit of the oligosaccharyltransferase complex, s. cerevisiae, homolog of, b gene (stt3b, 608605.0001)

•

en:caused by mutation in the surfeit 1 gene (surf1, 185620.0001)

•

en:caused by mutation in the t-box 3 gene (tbx3, 601621.0001)

•

en:caused by mutation in the tau tubulin kinase 2 gene (ttbk2, 611695.0001)

•

en:caused by mutation in the tectonic family, member 1 gene (tctn1, 609863.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain 19 gene (ttc19, 613814.0001)

•

en:caused by mutation in the thymidine phosphorylase gene (tymp, 131222.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0008)

•

en:caused by mutation in the sonic hedgehog gene (shh, 600725.0016)

•

en:caused by mutation in the transmembrane protein 15 gene (tmem15, 610746.0001)

•

en:caused by mutation in the transporter, atp-binding cassette, major histocompatibility complex, 2 gene (tap2, 170261.0004)

•

en:caused by mutation in the tripartite motif-containing 37 gene (trim37, 605073.0001)

•

en:caused by mutation in the tripartite motif-containing protein 32 gene (trim32, 602290.0001)

•

en:caused by mutation in the tropomyosin 2 gene (tpm2, 190990.0004)

•

en:caused by mutation in the tumor-associated calcium signal transducer 2 gene (tacstd2, 137290.0001)

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 13b gene (tnfrsf13b, 604907.0001)

•

en:caused by mutation in the tumor protein p63 gene (tp63, 603273.0007)

•

en:caused by mutation in the voltage-gated sodium channel, type xi, alpha subunit gene (scn11a, 604385.0001)

•

en:caused by mutation in the von willebrand factor gene (vwf, 613160.0028)

•

en:caused by mutation in the spermine synthase gene (sms, 300105.0001)

•

en:caused by mutation in the solute carrier family 7, member 14 gene (slc7a14, 615720.0001)

•

en:caused by mutation in the propionyl coenzyme a carboxylase, beta polypeptide gene (pccb, 232050.0001)

•

en:caused by mutation in the retinol-binding protein-3 gene (rbp3, 180920.0001)

•

en:caused by mutation in the protein o-glucosyltransferase-1 gene (poglut1, 615618.0001)

•

en:caused by mutation in the protocadherin 15 gene (pcdh15, 605514.0001)

•

en:caused by mutation in the pulmonary-associated surfactant protein a2 gene (sftpa2, 178642.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae postmeiotic segregation increased 2 gene (pms2, 600259.0001)

•

en:caused by mutation in the ras-associated protein rab23 gene (rab23, 606144.0001)

•

en:caused by mutation in the rearranged during transfection protooncogene (ret, 164761.0045)

•

en:caused by mutation in the recq protein-like 2 gene (recql2, 604611.0001)

•

en:caused by mutation in the regulatory factor x-associated protein gene (rfxap, 601861.0001)

•

en:caused by mutation in the reticulon 2 gene (rtn2, 603183.0001).

•

en:caused by mutation in the retinoblastoma-binding protein 8 gene (rbbp8, 604124.0003)

•

en:caused by mutation in the retinol dehydrogenase 12 gene (rdh12, 608830.0001)

•

en:caused by mutation in the solute carrier family 38 (amino acid transporter), member 8 gene (slc38a8, 615585.0001)

•

en:caused by mutation in the s. cerevisiae homolog of the trna splicing endonuclease 2 gene (tsen2, 608753.0001)

•

en:caused by mutation in the selenoprotein n, 1 gene (sepn1, 606210.0008)

•

en:caused by mutation in the senataxin gene (setx, 608465.00006)

•

en:caused by mutation in the serine protease inhibitor, kunitz-type, 2 gene (spint2, 605124.0001)

•

en:caused by mutation in the sh3 domain and tetratricopeptide repeat domain 2 gene (sh3tc2, 608206.0001)

•

en:caused by mutation in the small integral membrane protein 1 gene (smim1, 615242.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha polypeptide gene (scn5a, 600163.0025)

•

en:caused by mutation in the solute carrier family 12 (sodium/chloride transporter), member 6 gene (slc12a6, 604878.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 gene (slc25a15, 603861.0001)

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 8 gene (slc26a8, 608480.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae vacuolar protein sorting 53 gene (vps53, 615850.0001)

•

en:caused by mutation in the homeo box gene expressed in es cells (hesx1, 601802.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae mediator of rna polymerase ii transcription, subunit 12 (med12, 300188.0003)

•

en:caused by mutation in the aminoacyl-trna synthetase complex-interacting multifunctional protein 1 gene (aimp1, 603605.0001)

•

en:caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (slc17a5, 604322.0001)

•

en:caused by mutations in the transforming growth factor, beta-induced, 68kd gene (tgfbi, 601692.0004)

•

en:caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (tnfsf5, 308230.0001)

•

en:caused by mutations in the udp-galactose-4-epimerase gene, 'severe' form (gale, 606953.0008)

•

en:caused by mutation in aldo-keto reductase family 1, member c2 gene (akr1c2, 600450.0001)

•

en:caused by mutation in alpha-galactosidase a gene (gla, 300644.0001)

•

en:caused by mutation in the 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase gene (hsd3b7, 607764.0001)

•

en:caused by mutation in the 33-kd acidic cluster protein gene (acp33, 608181.0001)

•

en:caused by mutation in the alpha-1 actinin gene (actn1, 102565.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily a, member 12 gene (abca12, 607800.0006)

•

en:caused by mutations in the procollagen i n-proteinase gene (adamts2, 604539.0001)

•

en:caused by mutation in the atp/gtp-binding protein-like-1 gene (agbl1, 615496.0001)

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, accessory protein-2 gene (atp6ap2, 300556.0001)

•

en:caused by mutation in the autoimmune regulator gene (aire, 607358.0001)

•

en:caused by mutation in the beta retinoic acid receptor (rarb, 180220.0001)

•

en:caused by mutation in the blk nonreceptor tyrosine kinase gene (blk, 191305.0001)

•

en:caused by mutation in the bone morphogenetic protein-1 gene (bmp1, 112264.0001)

•

en:caused by mutation in the c. elegans homolog of the ectopic p-granules autophagy protein 5 gene (epg5, 615068.0001)

•

en:caused by mutation in the calreticulin-3 gene (calr3, 611414.0001)

•

en:caused by mutation in the carbohydrate sulfotransferase-14 gene (chst14, 608429.0001)

•

en:caused by mutation in the casein kinase 1, delta, gene (csnk1d, 600864.0001)

•

en:caused by mutations in the ras-associated protein rab27a gene (rab27a, 603868.0001)

•

en:caused by mutations in the parathyroid hormone receptor 1 gene (pthr1, 168468.0003)

•

en:caused by mutation in the chromosome 2 open reading frame 64 gene (c2orf64, 613920.0001)

•

en:caused by duplication of 59kb on chromosome 2q35

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10a gene (wnt10a, 606268.0002)

•

en:associated with mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

en:a contiguous gene syndrome caused by deletion of the friend leukemia virus integration 1 gene (fli1, 193067) and perhaps other genes in 11q23

•

en:caused by a 1.35-mb deletion of chromosome 1q21

•

en:caused by a 1.37mb deletion on 4q21 encompassing 5 genes

•

en:caused by a trinucleotide repeat expansion cag(n) in the androgen receptor gene (ar, 313700.0014)

•

en:caused by contiguous gene deletion of imprinted region of 11p15.5

•

en:caused by deletion (4.06 mb) of chromosome 14q22.1-q22.3

•

en:caused by duplication of 294 kb to 2.7 mb including the prkaca gene on chromosome 19p13

•

en:caused by expanded cag trinucleotide repeats in the ataxin-2 gene (atx2, 601517.0001).

•

en:caused by mutations in the mitochondrial rna-processing endoribonuclease gene (rmrp, 157660.0001)

•

en:caused by germline mutation in the armadillo repeat-containing protein 5 gene (armc5, 615549.0001) coupled with somatic mutation of the other armc5 allele in the adrenal tumors

•

en:caused by interstitial duplication (3.7mb) of 17p11.2

•

en:caused by mutations in lecithin:cholesterol acyltransferase gene (lcat, 606967.0005).

•

en:caused by mutations in myeloproliferative leukemia virus oncogene (mpl, 159530.0001)

•

en:caused by mutations in the 25-hydroxyvitamin d3-1-alpha-hydroxylase gene (cyp27b1, 609506.0001).

•

en:caused by mutations in the calcium-sensing receptor gene (casr, 601199.0001)

•

en:caused by mutations in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0001)

•

en:caused by mutations in the distal-less homeo box-3 gene (dlx3, 600525.0001)

•

en:caused by mutations in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0010)

•

en:caused by mutations in the lamin b receptor gene (lbr, 600024.0001)

•

en:caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (dpm1, 603503.0001)

•

en:caused by mutation in the class 4 pou domain transcription factor 3 gene (pou4f3, 602460.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae alg3 gene (alg3, 608750.0001)

•

en:caused by mutation in the fumarylacetoacetase gene (fah, 613871.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 4a, isoform 3, gene (eif4a3, 608546.0001)

•

en:caused by mutation in the extracellular matrix protein 1 gene (ecm1, 602201.0001)

•

en:caused by mutation in the eyes absent-1 gene (eya1, 601653.0003)

•

en:caused by mutation in the fas-associated via death domain gene (fadd, 602457.0001)

•

en:caused by mutation in the fas ligand gene (fasl, 134638.0001)

•

en:caused by mutation in the fibroblast growth factor 23 gene (fgf23, 605380.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0029)

•

en:caused by mutation in the filamin a gene (flna, 300017.0010)

•

en:caused by mutation in the fk506-binding protein-14 gene (fkbp14, 614505.0001)

•

en:caused by mutation in the fxyd domain-containing ion transport regulator 2 gene (fxyd2, 601814.0001)

•

en:caused by mutation in the ercc6-like 2 gene (ercc6l2, 615667.0001)

•

en:caused by mutation in the gamma type 1 phosphatidylinositol 4-phosphate 5-kinase gene (pip5k1c, 606102.0001)

•

en:caused by mutation in the glycerate kinase gene (glyctk, 610516.0001)

•

en:caused by mutation in the heat-shock 27-kd protein (hspb1, 602195.0001)

•

en:caused by mutation in the heparanase-2 gene (hpse2, 613469.0001)

•

en:caused by mutation in the hepatocyte cell adhesion molecule gene (hepacam, 611642.0006)

•

en:caused by mutation in the histidyl-trna synthetase gene (hars, 142810.0001)

•

en:caused by mutation in the histone deacetylase 8 gene (hdac8, 300269.0002)

•

en:caused by mutation in the homolog of the drosophila hairy/enhancer of split 7 gene (hes7, 608059.0001)

•

en:caused by mutation in the homolog of the drosophila snail 2 gene (snai2, 602150.0001)

•

en:caused by mutation in the homolog of the rat nexilin gene (nexn, 613121.0004)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 1 gene (eif2b1, 606686.0001)

•

en:caused by mutation in the enolase 3 gene (eno3, 131370.0001)

•

en:caused by mutation in the claudin 19 (cldn19, 610036.0001)

•

en:caused by mutation in the cwf19-like protein 1 gene (cwf19l1, 616120.0001)

•

en:caused by mutation in the coagulation factor v gene (f5, 612309.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 103 (ccdc103, 614677.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 114 gene (ccdc114, 615038.0001)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0005)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0012)

•

en:caused by mutation in the complement component 1, q subcomponent, a chain gene (c1qa, 120550.0001)

•

en:caused by mutation in the complex i, subunit nd1 gene (mtnd1, 516000.0001)

•

en:caused by mutation in the connexin 43 gene (gja1, 121014.0003)

•

en:caused by mutation in the cryptic-protein gene (cfc1, 605194.0004)

•

en:caused by mutation in the cytochrome b-245, beta polypeptide gene (cybb, 300481.0022)

•

en:caused by mutation in the endothelin 1 gene (edn1, 131240.0004)

•

en:caused by mutation in the cytochrome b5 reductase 3 gene (cyb5r3, 613213.0001)

•

en:caused by mutation in the ddb1- and cul4-associated factor 17 gene (dcaf17, 612515.0001)

•

en:caused by mutation in the dedicator of cytokinesis 7 gene (dock7, 615730.0001)

•

en:caused by mutation in the deleted in colorectal carcinoma gene (dcc, 120470.0001)

•

en:caused by mutation in the delta-aminolevulinate synthase 2 gene (alas2, 301300.0001)

•

en:caused by mutation in the dep domain-containing protein 5 gene (depdc, 614191.0001)

•

en:caused by mutation in the desmoglein 1 gene (dsg1, 125670.0008)

•

en:caused by mutation in the distal-less homeobox-5 gene (dlx5, 600028.0002)

•

en:caused by mutation in the dna methyltransferase 1 gene (dnmt1, 126375.0003)

•

en:caused by mutation in the dynein axonemal heavy chain 11 gene (dnah11, 603339.0001)

•

en:caused by mutation in the wd repeat-containing protein 72 gene (wdr72, 613214.0001)

•

en:caused by mutation in the myofibrillogenesis regulator 1 gene (mr1, 609023.0001)

•

en:caused by mutation in the wiskott-aldrich syndrome protein gene (wasp, 301000.0001)

•

en:caused by mutation in the palmitoyl-protein thioesterase 1 gene (ppt1, 600722.0001).

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 1 gene (ndufs1, 157655.0001)

•

en:caused by mutation in the nephrocystin 3 gene (nphp3, 608002.0004)

•

en:caused by mutation in the neurofibromin-2 gene (nf2, 607379.0017)

•

en:caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (ntrk1, 191315.0001)

•

en:caused by mutation in the nlr family, caspase recruitment domain-containing 4 gene (nlrc4, 606831.0003)

•

en:caused by mutation in the nuclear-encoded mitochondrial thymidine kinase gene (tk2, 188250.0001)

•

en:caused by mutation in the nuclear receptor subfamily 3, group c, member 1 gene (nr3c1, 138040.0001)

•

en:caused by mutation in the nucleotide-binding oligomerization domain protein 2 gene (nod2, 605956.0004).

•

en:caused by mutation in the ornithine aminotransferase gene (oat, 258870.0001)

•

en:caused by mutation in the peripheral myelin protein-22 gene (pmp22, 601097.0001)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 beta subcomplex 3 gene (ndufb3, 603839.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-1 gene (pex1, 602136.0001)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory, 1 gene (pik3r1, 171833.0002)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (pik3r1, 171833.0007)

•

en:caused by mutation in the phosphatidylinositol glycan, class t gene (pigt, 610272.0001)

•

en:caused by mutation in the phosphatidylinositol glycan, class w gene (pigw, 610275.0001)

•

en:caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (prps1, 311850.0009)

•

en:caused by mutation in the polo-like kinase 4 gene (plk4, 605031.0001)

•

en:caused by mutation in the post-gpi attachment to proteins 1 gene (pgap1, 611655.0002)

•

en:caused by mutation in the potassium channel, inwardly rectifying, subfamily j, member 11 gene (kcnj11, 600937.0002)

•

en:caused by mutation in the potassium voltage-gated channel, isk-related family, member 2 gene (kcne2, 603796.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 gene (ndufa1, 300078.0001)

•

en:caused by mutation in the n-acylsphingosine amidohydrolase 1 gene (asah1, 613468.0001)

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0027)

•

en:caused by mutation in the l-3-hydroxyacyl-coa dehydrogenase gene (had, 601609.0001).

•

en:caused by mutation in the hps4 gene (hps4, 606682)

•

en:caused by mutation in the human homolog of the drosophila 'patched' gene 1 (ptch1, 601309.0001)

•

en:caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel (hcn1, 602780.0001)

•

en:caused by mutation in the immunoglobulin-like domain-containing receptor 1 gene (ildr1, 609739.0001).

•

en:caused by mutation in the insulin gene (ins, 176730.0014)

•

en:caused by mutation in the integrin-alpha-6 gene (itga6, 147556.0001)

•

en:caused by mutation in the integrin alpha-7 gene (itga7, 600536.0001)

•

en:caused by mutation in the kiaa0196 gene (kiaa0196, 610657.0001)

•

en:caused by mutation in the kn motif- and ankyrin repeat domain-containing protein 2 gene (kank2, 614610.0001)

•

en:caused by mutation in the laminin, gamma-3 gene (lamc3, 604349.0001)

•

en:caused by mutation in the n-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (gnptab, 607840.0003)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0047)

•

en:caused by mutation in the lipase h gene (liph, 607365.0001)

•

en:caused by mutation in the lipin 1 gene (lpin1, 605518.0001)

•

en:caused by mutation in the metabotropic glutamate receptor 1 gene (grm1, 604473.0001)

•

en:caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2, 300005.0003)

•

en:caused by mutation in the mitochondrial transfer rna leucine 1 gene (mttl1, 590050.0001)

•

en:caused by mutation in the mitochondrial transfer rna serine 1 gene (mtts1, 590080.0001)

•

en:caused by mutation in the molybdenum cofactor synthesis gene 2 (mocs2, 603708.0001)

•

en:caused by mutation in the myelin-oligodendrocyte glycoprotein (mog, 159465.0001)

•

en:caused by mutation in the myotubularin-related protein-2 gene (mtmr2, 603557.0001)

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0001)

•

en:caused by mutation in the proline-rich transmembrane protein 2 gene (prrt2, 614386.0001).

•

en:caused by mutation in the homolog of the s. cerevisiae coq6 gene (coq6, 614647.0001)

•

en:caused by mutation in zinc finger mynd-containing protein-15 gene (zmynd15, 614312.0001)

•

en:caused by mutation in the transmembrane protein 70 (tmem70, 612418.0001)

•

en:caused by mutation in the transmembrane protein 98 gene (tmem98, 615949.0001)

•

en:caused by mutation in the trna-specific adenosine deaminase 3 gene (adat3, 615302.0001)

•

en:caused by mutation in the type ix, voltage-gated sodium channel, alpha subunit gene (scn9a, 603415.0008)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase-protein complex iii subunit vii gene (uqcrq, 612080.0001)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase complex assembly factor 2 gene (uqcc2, 614461.0001)

•

en:caused by mutation in the wd repeat-containing protein antisense to tp53 gene (wrap53, 612661.0001)

•

en:caused by mutation in the zinc finger mynd domain-containing protein 11 gene (zmynd11, 608668.0001)

•

en:caused by mutation in the zinc finger protein 423 gene (znf423, 604557.0001)

•

en:caused by postzygotic somatic mosaic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0001)

•

en:caused by mutation in the transmembrane protein 165 gene (tmem165, 614726.0001)

•

en:contiguous duplication of 2.2mb on chromosome 17q23.1-q23.2

•

en:contiguous gene syndrome caused by duplication (1.5 - 3.0 mb) of chromosome 22q11.2

•

en:due to hemizygous deletion of 4p16.3

•

en:susceptibility associated with variants in the frizzled-related protein gene (frzb, 605083.0001)

•

en:susceptibility conferred by allele 2 of the dinucleotide repeat in the dopamine receptor drd5 gene (126453.0001)

•

en:susceptibility conferred by mutation in the platelet thromboxane a2 receptor gene (tbxa2r, 188070.0001)

•

en:susceptibility conferred by mutation in the protection of telomeres 1 gene (pot1, 606478.0001)

•

en:susceptibility conferred by mutation in the transmembrane 4 l6 family, member 20 gene (tm4sf20, 615404.0001)

•

en:thrombasthenia-thrombocytopenia, hereditary

•

en:caused by mutation in the wnk lysine deficient protein kinase 4 gene (wnk4, 601844.0001)

•

en:caused by mutation in the transmembrane protein 231 gene (tmem231, 614949.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0006)

•

en:caused by mutation in the protein-tyrosine phosphatase, receptor-type, o gene (ptpro, 600579.0001)

•

en:caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 gene (slc24a4, 609840.0002)

•

en:caused by mutation in the protein tyrosine phosphatase, nonreceptor-type, 11 gene (ptpn11, 176876.0001)

•

en:caused by mutation in the regulatory factor x, ankyrin repeat-containing gene (rfxank, 603200.0001)

•

en:caused by mutation in the retinol dehydrogenase 11 gene (rdh11, 607849.0001)

•

en:caused by mutation in the rho guanine nucleotide exchange factor 9 gene (arhgef9, 300429.0001)

•

en:caused by mutation in the sal-like 1 gene (sall1, 602218.0001)

•

en:caused by mutation in the sam domain- and hd domain-containing protein 1 gene (samhd1, 606754.0011)

•

en:caused by mutation in the sclerostin gene (sost, 605740.0005)

•

en:caused by mutation in the sh3 domain and tetratricopeptide repeat domain 2 gene (sh3tc2, 608206.0005)

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, gamma gene (scnn1g, 600761.0005)

•

en:caused by mutation in the solute carrier family 25, member 19 gene (mitochondrial thiamine pyrophosphate carrier) (slc25a19, 606521.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain-containing protein 8 gene (ttc8, 608132.0001)

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0004)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0001)

•

en:caused by mutation in the solute carrier family 5 (sodium/glucose cotransporter), member 2 gene (slc5a2, 182381.0001)

•

en:caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (slc7a7, 603593.0001)

•

en:caused by mutation in the sorting nexin 10 gene (snx10, 614780.0001)

•

en:caused by mutation in the subunit 1 phosphatase of the c-terminal domain of rna polymerase ii subunit a gene (ctdp1, 604927.0001)

•

en:caused by mutation in the swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene (smarca2, 600014.0001)

•

en:caused by mutation in the synaptotagmin 14 gene (syt14, 610949.0001)

•

en:caused by mutation in the tar dna-binding protein (tardbp, 605078.0001)

•

en:caused by mutation in the tectonic family, member 3 gene (tctn3, 613847.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae meiotic recombination 11 a gene (mre11a, 600814.0001)

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0015)

•

en:caused by mutation in the homolog of the s. cerevisiae alg6 gene (alg6, 604566.0001)

•

en:caused by mutation in the alpha-aminoadipic semialdehyde synthase gene (aass, 605113.0001)

•

en:caused by mutation in cyclin-dependent kinase inhibitor 2a (cdkn2a, 600160.0003)

•

en:caused by mutation in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 gene (papss2, 603005.0001)

•

en:caused by mutation in the 5-prime nucleotidase, cytosolic ii gene (nt5c2, 600417.0001)

•

en:caused by mutation in the 65-kd yes-associated protein-1 gene (yap1, 606608.0001)

•

en:caused by mutation in the adamts-like protein 2 gene (adamtsl2, 612277.0001)

•

en:caused by mutation in the adenosine deaminase, rna-specific gene (adar, 601059.0001)

•

en:caused by mutation in the aldehyde dehydrogenase 5 family, member a1 gene (aldh5a1, 610045.0001)

•

en:caused by mutation in the alpha-1s subunit of l-type voltage-dependent calcium channel gene (cacna1s, 114208.0001).

•

en:caused by mutation in the alpha-4 laminin gene (lama4, 600133.0001)

•

en:caused by mutation in the alpha subunit of the type v voltage-gated sodium channel gene (scn5a, 600163.0034)

•

en:caused by mutations in the triggering receptor expressed on myeloid cells-2 gene (trem2, 605086.0001)

•

en:caused by mutation in the amnionless gene (amn, 605799.0001)

•

en:caused by mutation in the atpase, na+k+ transporting, alpha-2 polypeptide gene (atp1a2, 182340.0005)

•

en:caused by mutation in the avian myelocytomatosis viral (v-myc) oncogene homolog (myc, 190080.0001)

•

en:caused by mutation in the beta-1 laminin gene (lamb1, 150240.0001)

•

en:caused by mutation in the beta-3 laminin gene (lamb3, 150310.0017)

•

en:caused by mutation in the beta-galactosidase gene (glb1, 611458.0009)

•

en:caused by mutation in the beta subunit of the hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase (hadhb, 143450.0001)

•

en:caused by mutation in the biotinidase gene (btd, 253260.0001)

•

en:caused by mutation in the cartilage-associated protein gene (crtap, 605497.0001)

•

en:caused by mutation in the caspase recruitment domain-containing protein 11 gene (card11, 607210.0003)

•

en:caused by mutations in the vitamin d receptor gene (vdr, 601769.0001)

•

en:caused by mutations in the titin immunoglobulin domain protein gene (ttid, 604103.0002).

•

en:caused by mutation in the cd3 antigen, epsilon subunit gene (cd3e, 186830.0003)

•

en:caused by a 260-kb duplication on chromosome 11q12.2-11q12.3.

•

en:caused by mutation in the homolog of the s. cerevisiae alg13 gene (alg13, 300776.0001)

•

en:caused by partial duplication of mtdna

•

en:caused by simultaneous heterozygous mutation in both the never in mitosis gene a-related kinase 1 gene (nek1, 604588.0003) and the dynein, cytoplasmic-2, heavy chain-1 gene (dyn2ch1, 603297.0016)

•

en:caused by the glycogenin 1 gene (gyg1, 603942.0001)

•

en:caused by trinucleotide repeat expansion (cgg)n in the fragile site mental retardation gene (fmr1, 309550.0004)

•

en:cause by mutation in the homolog of the s. cerevisiae alg2 gene (alg2, 607905.0003)

•

en:contiguous gene syndrome involving mutation of genes on 7q11.2

•

en:caused by mutation in the zinc finger- and btb domain-containing protein 16 gene (zbtb16, 176797.0001)

•

en:a mutation in the homeobox d13 gene (hoxd13, 142989.0012) has been identified in 1 patient.

•

en:caused by contiguous gene deletion on chromosome xp11.3, including the rp2 gene (312600)

•

en:caused by mutations in the t-box 5 gene (tbx5, 601620.0001)

•

en:caused by deletion (1.7mb) of 1q41-q42

•

en:caused by interstitial or terminal deletion of chromosome 18q

•

en:caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ror2, 602337.0001)

•

en:caused by mutations in the canalicular multispecific organic anion transporter gene (abcc2, 601107.0001)

•

en:caused by mutations in the delta-7-dehydrocholesterol reductase gene (dhcr7, 602858.0001)

•

en:caused by mutations in the glial fibrillary acidic protein gene (gfap, 137780.0001)

•

en:caused by mutations in the glycine n-methyltransferase gene (gnmt, 606628.0001)

•

en:caused by mutations in the growth/differentiation factor-5 gene (gdf5, 601146.0001)

•

en:caused by mutations in the low density lipoprotein receptor gene (ldlr, 143890.0001)

•

en:caused by mutations in the menin gene (men1, 131100.0001)

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0010)

•

en:susceptibility conferred by mutations in the protein tyrosine phosphatase, receptor type, c polypeptide gene (ptprc, 151460.0001)

•

en:caused by mutation in the ceramide synthase 3 gene (cers3, 615276.0001)

•

en:caused by mutation in the glycerol-3-phosphate dehydrogenase 1 gene (gpd1, 138420.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 4 gene (eif2ak4, 609280.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 4 gene (ercc4, 133520.0004)

•

en:caused by mutation in the fatty acid 2-hydroxylase gene (fa2h, 611026.0001)

•

en:caused by mutation in the fms-like tyrosine kinase-4 gene (flt4, 136352.0001)

•

en:caused by mutation in the fras1-related extracellular matrix protein 1 gene (frem1, 608944.0004)

•

en:caused by mutation in the gap junction protein, beta-2 gene (gjb2, 121011.0002)

•

en:caused by mutation in the gap junction protein, gamma-2 gene (gjc2, 608803.0009)

•

en:caused by mutation in the gata zinc finger domain-containing protein-1 gene (gatad1, 614518.0001)

•

en:caused by mutation in the gene encoding a disintegrin and metalloproteinase domain-10 (adam10, 602192.0001)

•

en:caused by mutation in the granulin gene (grn, 138945.0001)

•

en:caused by mutation in the endothelin-1 gene (edn1, 131240.0002)

•

en:caused by mutation in the growth/differentiation factor-5 gene (gdf5, 601146.0020)

•

en:caused by mutation in the hect domain and rcc1-like domain 2 (herc2, 605837.0004)

•

en:caused by mutation in the hepatic growth factor gene (hgf, 142409.0001)

•

en:caused by mutation in the histone deacetylase 8 gene (hdac8, 300269.0001)

•

en:caused by mutation in the homolog of s. cerevisiae cell division cycle 6 gene (cdc6, 602627.0001)

•

en:caused by mutation in the homolog of the mouse itchy gene (itch, 606409.0001)

•

en:caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (mass1, 602851.0001)

•

en:caused by mutation in the homolog of the mouse pink-eyed dilution gene (oca2, 611409.0001)

•

en:caused by mutation in the cln5 gene (cln5, 608102.0001)

•

en:caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (stra6, 610745.0007)

•

en:caused by mutation in the ethe1 gene (ethe1, 608451.0001)

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 122 gene (ift122, 606045.0001).

•

en:caused by mutation in the elongation of very long chain fatty acids-like 4 gene (elovl4, 605512.0007)

•

en:caused by mutation in the cytokine-like factor 1 gene (crlf1, 604237.0001)

•

en:caused by mutation in the elg9, c. elegans, homolog of, 1 gene (egln1, 606425.0004)

•

en:caused by mutation in the coiled-coil and c2 domains-containing protein 2a gene (cc2d2a, 612013.0006)

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0004)

•

en:caused by mutation in the complement component 1, q subcomponent, b chain gene (c1qb, 120570.0001)

•

en:caused by mutation in the conserved telomere maintenance component 1 gene (ctc1, 613129.0001)

•

en:caused by mutation in the cullin 7 gene (cul7, 609577.0001)

•

en:caused by mutation in the cyld gene (605018.0003)

•

en:caused by mutation in the cystinosin gene (ctns, 219800.0001)

•

en:caused by mutation in the cytochrome c oxidase, subunit via, polypeptide 1 gene (cox6a1, 602072.0001)

•

en:caused by mutation in the cytochrome p450, subfamily iid6 gene (cyp2d6, 124030.0001)

•

en:caused by mutation in the complement factor h-related 5 gene (cfhr5, 608593.0001)

•

en:caused by mutation in the cytotoxic t lymphocyte-associated 4 gene (ctla4, 123890.0003)

•

en:caused by mutation in the downstream of tyrosine kinase 7 gene (dok7, 610285.0001)

•

en:caused by mutation in the egf domain-specific o-linked n-acetylglucosamine transferase gene (eogt, 614789.0001)

•

en:caused by mutation in the dehydrogenase e1 and transketolase domains-containing protein 1 gene (dhtkd1, 614984.0001)

•

en:caused by mutation in the ef-hand domain (c-terminal)-containing 1 gene efhc1, (608815.0006)

•

en:caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (dync1h1, 600112.0001)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0005)

•

en:caused by mutation in the dna methyltransferase 1 gene (dnmt1, 126375.0001)

•

en:caused by mutation in the disintegrin-like and metalloproteinase with thrombospondin type 1 motif 18 gene (adamts18, 607512.0002)

•

en:caused by mutation in the dihydropyrimidinase gene (dpys, 613326.0001)

•

en:caused by mutation in the deoxyribonuclease i-like 3 gene (dnase1l3, 602244.0001)

•

en:caused by mutation in the mitochondrial phenylalanyl-trna synthetase 2 gene (fars2, 611592.0001)

•

en:caused by mutation in the ionotrophic glutamate receptor, n-methyl-d-aspartate, subunit 2b gene (grin2b, 138252.0010)

•

en:caused by mutation in the homolog of yeast dna replication helicase-2 gene (dna2, 601810.0004)

•

en:caused by mutation in the human homolog a of the s. cerevisiae sec23 gene (sec23a, 610511.0001)

•

en:caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel 4 gene (hcn4, 605206.0001)

•

en:caused by mutation in the immunoglobulin kappa constant region gene (igkc, 147200.0004)

•

en:caused by mutation in the insulin receptor gene (insr, 147670.0037)

•

en:caused by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0001)

•

en:caused by mutation in the intrinsic factor-vitamin b12 receptor gene (cubn, 602997.0001)

•

en:caused by mutation in the keratin 74 gene (krt74, 608248.0004)

•

en:caused by mutation in the keratin 5 gene (krt5, 148040.0001)

•

en:caused by mutation in the mitochondrial ribosomal protein l3 gene (mrpl3, 607118.0001)

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 37 gene (vps37a, 609927.0001)

•

en:caused by mutation in the keratin 83 gene (krt83, 602765.0001)

•

en:caused by mutation in the kinesin family member 4a gene (kif4a, 300521.0001)

•

en:caused by mutation in the lamin b receptor (lbr, 600024.0003)

•

en:caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (lrp5, 603506.0013)

•

en:caused by mutation in the mitochondrial complex i, subunit nd6 gene (mtnd6, 516006.0002)

•

en:caused by mutation in the l-3-hydroxyacyl-coa dehydrogenase gene (hadh, 601609.0003)

•

en:caused by mutation in the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 gene (gpihbp1, 612757.0002)

•

en:caused by mutation in the homolog of the s. cerevisiae sec23 gene b (sec23b, 610512.0001)

•

en:caused by mutation in the glutamate-cysteine ligase, catalytic subunit gene (gclc, 606857.0001)

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0004).

•

en:caused by mutation in the myosin va gene (myo5a, 160777)

•

en:caused by mutation in the frizzled 4 gene (fzd4, 604579.0001)

•

en:caused by mutation in the fukutin gene (fktn, 607440.0005)

•

en:caused by mutation in the gap junction, alpha-3, 46kd protein gene (gja3, 121015.0001)

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0001)

•

en:caused by mutation in the gata-binding protein 2 gene (gata2, 137295.0001)

•

en:caused by mutation in the gdp-mannose pyrophosphorylase a gene (gmppa, 615495.0001)

•

en:caused by mutation in the glutaminyl-trna synthetase gene (qars, 603727.0001)

•

en:caused by mutation in the homolog of the drosophila notch, 3, gene (notch3, 600276.0012)

•

en:caused by mutation in the gonadotropic-releasing hormone 1 gene (gnrh1, 152760.0001)

•

en:caused by mutation in the grainyhead-like-3 gene (grhl3, 608317.0001)

•

en:caused by mutation in the growth/differentiation factor 6 gene (gdf6, 601147.0001)

•

en:caused by mutation in the g protein signaling modulator 2 gene (gpsm2, 609245.0001)

•

en:caused by mutation in the homolog a of s. cerevisiae trna methyltransferase 10 gene (trmt10a, 616013.0001)

•

en:caused by mutation in the homolog of the a. nidulans nude 1 gene (nde1, 609449.0001)

•

en:caused by mutation in the homolog of the drosophila achaete-scute complex, 1 gene (ascl1, 100790.0001)

•

en:caused by mutation in the homolog of the drosophila fat tumor suppressor 4 gene (fat4, 612411.0001)

•

en:caused by mutation in the mlc1 gene (mlc1, 605908.0001)

•

en:caused by mutation in the ribosomal protein l15 gene (rpl15, 604174.0001)

•

en:caused by mutation in the n-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (gnptab, 607840.0001)

•

en:caused by mutation in the solute carrier family 35 (udp-galactose transporter), member 2 gene (slc35a2, 314375.0001)

•

en:caused by mutation in the sacsin gene (sacs, 604490.0001)

•

en:caused by mutation in the sal-like 2 gene (sall2, 602219.0001)

•

en:caused by mutation in the scaffold protein containing ankyrin repeats and sam domain gene (sans, 607696.0001)

•

en:caused by mutation in the serpin peptidase inhibitor, clade a, member 6 gene (serpina6, 122500.0001)

•

en:caused by mutation in the set-binding factor 1 gene (sbf1, 603560.0001)

•

en:caused by mutation in the slit- and ntrk-like family, member-6 gene (slitrk6, 609681.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type ix, alpha subunit gene (scn9a, 603415.0018)

•

en:caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 1 gene (slc34a1, 182309.0001)

•

en:caused by mutation in the solute carrier family 5 (choline transporter), member 7 gene (slc5a7, 608761.0001)

•

en:caused by mutation in the recombination-activating gene 2 (rag2, 179616.0009)

•

en:caused by mutation in the solute carrier family 9, isoform a6 gene (slc9a6, 300231.0001)

•

en:caused by mutation in the succinate-coa ligase adp-forming beta-subunit gene (sucla2, 603921.0001)

•

en:caused by mutation in the succinate dehydrogenase complex assembly factor 1 gene (sdhaf1, 612848.0001)

•

en:caused by mutation in the system b(0) neutral amino acid transporter-1 gene (slc6a19, 608893.0001)

•

en:caused by mutation in the testis/liver gamma-2 subunit of phosphorylase kinase gene (phkg2, 172471.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain-containing protein-7a gene (ttc7a, 609332.0001)

•

en:caused by mutation in the transmembrane protein 67 gene (tmem67, 609884.0018)

•

en:caused by mutation in the tubulin, beta-2a gene (tubb2a, 615101.0001)

•

en:caused by mutation in the ring finger protein 168 gene (rnf168, 612688.0001)

•

en:caused by mutation in the ras-associated protein rab39b (300774.0001)

•

en:caused by mutation in the n-acetylglucosamine-1-phosphotransferase, gamma subunit gene (gnptg, 607838.0001)

•

en:caused by mutation in the paraplegin gene (spg7, 602783.0001)

•

en:caused by mutation in the n-acylsphingosine amidohydrolase 1 gene (asah1, 613468.0006)

•

en:caused by mutation in the nad(p)h steroid dehydrogenase-like protein (nsdhl, 300275.0007)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 12 gene (ndufa12, 614530.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) flavoprotein 1 gene (ndufv1, 161015.0001)

•

en:caused by mutation in the neural retina leucine zipper gene (nrl, 162080.0001)

•

en:caused by mutation in the occludin gene (ocln, 602876.0001)

•

en:caused by mutation in the paired-related homeobox gene 1 (prrx1, 167420.0001)

•

en:caused by mutation in the pantothenate kinase-2 gene (pank2, 607157.0001)

•

en:caused by mutation in the perilipin-1 gene (plin1, 170290.0001)

•

en:caused by mutation in the rab escort protein 1 gene (chm, 300390.0001)

•

en:caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (pparg, 601487.0007)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 2 gene (pik3r2, 603157.0001)

•

en:caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit gene (pafah1b1, 601545.0001)

•

en:caused by mutation in the pleckstrin homology domain-containing protein, family g, member 5 gene (plekhg5, 611101.0002)

•

en:caused by mutation in the prosaposin gene (psap, 176801.0001)

•

en:caused by mutation in the protein o-mannosyltransferase-1 gene (pomt1, 607423.0001)

•

en:caused by mutation in the protein tyrosine phosphatase, receptor type, c polypeptide gene (ptprc, 151460.0002)

•

en:caused by mutation in the pseudouridine synthase-1 gene (pus1, 608109.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0014)

•

en:caused by mutation in the bbs protein complex-interacting protein 1 gene (bbip1, 613605.0001)

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0050)

•

en:caused by mutation in the alkylglycerone-phosphate synthase gene (agps, 603051.0001)

•

en:caused by mutation in both the opsin 1, long-wave-sensitive (red cone pigment) gene (opn1lw, 300822.0001) and opsin 1, medium-wave-sensitive (green cone pigment) gene (opn1mw, 300821.0002)

•

en:caused by mutation in phosphorylase kinase, beta subunit (phkb, 172490.0001)

•

en:caused by mutation in the 15-alpha-hydroxyprostaglandin dehydrogenase gene (hpgd, 601688.0001).

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase 4 gene (hsd17b4, 601860.0008)

•

en:caused by mutation in the acid beta-glucosidase gene (gba, 606463.0006)

•

en:caused by mutation in the adenomatous polyposis coli gene (apc, 611731.0001)

•

en:caused by mutation in the adenylosuccinate lyase gene (adsl, 608222.0001)

•

en:caused by mutation in the alpha-1d subunit of the l-type voltage-dependent calcium channel gene (cacna1d, 114206.0001)

•

en:caused by mutations in the wilms tumor 1 gene (wt1, 607102.0001).

•

en:caused by mutation in the alpha-actin-1 gene (acta1, 102610.0001)

•

en:caused by mutation in the ankyrin 2 gene (ank2, 106410.0001)

•

en:caused by mutation in the aristaless-like homeobox 3 gene (alx3, 606014.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily a, member 3 gene (abca3, 601615.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0012)

•

en:caused by mutation in the bbs5 gene (bbs5, 603650.0001)

•

en:caused by mutation in the beta-1-galactosidase gene (glb1, 230500.0004)

•

en:caused by mutation in the beta-2 transforming growth factor gene (tgfb2, 190220.0001)

•

en:caused by mutations in the xylosylprotein 4-beta-galactosyltransferase, polypeptide 7 gene (b4galt7, 604327.0001)

•

en:caused by mutations in the protein tyrosine kinase-binding protein gene (tyrobp, 604142.0001)

•

en:caused by mutation in the beta choline kinase gene (chkb, 612395.0001)

•

en:caused by mutations in the bone morphogenetic protein receptor, type 1b gene (bmpr1b, 603248.0003)

•

en:caused by mutation in the ubiquitin-protein ligase e3b gene (ube3b, 608047.0001)

•

en:caused by a 5.1-mb duplication of chromosome xq27.3-q28

•

en:caused by by mutations in the prophet of pit1, paired-like homeodomain transcription factor gene (prop1, 601538.0001)

•

en:caused by chromosome 14 paternal uniparental disomy

•

en:caused by deletion of 3.0-30.0mb on 14q11-q22

•

en:caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (smpd1, 607608.0001)

•

en:caused by mutations in the alpha-l-fucosidase gene (fuca1, 230000.0001)

•

en:caused by mutations in the apolipoprotein lp(a) gene (lpa, 152200.0001)

•

en:caused by mutations in the cystinosis gene (ctns, 219800.0008)

•

en:caused by mutations in the n(5,10)-methylenetetrahydrofolate reductase gene (mthfr, 607093.0001)

•

en:caused by mutations in the delta-1-pyrroline-5-carboxylate dehydrogenase gene (p5cdh, 606811.0001)

•

en:caused by mutations in the dentin sialophosphoprotein gene (dspp, 125485.0004)

•

en:caused by mutations in the filamin c gene (flnc, 102565.0001)

•

en:caused by mutations in the flj90140 gene (flj90130, 607461.0005)

•

en:caused by mutations in the galactosamine-6-sulfatase gene (galns, 612222.0001).

•

en:caused by mutations in the gli-kruppel family member 3 gene (gli3, 165240.0002)

•

en:caused by mutations in the glycosylceramidase gene (galc, 606890.0001)

•

en:caused by mutations in the myeloperoxidase gene (mpo, 606989.0001).

•

en:caused by mutation in the beta-3 transforming growth factor gene (tgfb3, 190230.0003)

•

en:caused by mutation in the brain protein 44-like gene (brp44l, 614738.0001)

•

en:caused by mutation in the ferrochelatase gene (fech, 177000.0001)

•

en:caused by mutation in the dna methyl-transferase 3b gene (dnmt3b, 602900.0001)

•

en:caused by mutation in the cytochrome p450, subfamily xib, polypeptide 1 gene (cyp11b1, 610613.0001)

•

en:caused by mutation in the c homolog of the s. cerevisiae rad51 gene (rad51c, 602774.0001)

•

en:caused by mutation in the ddhd domain-containing protein 1 gene (ddhd1, 614603.0001)

•

en:caused by mutation in the dead/h box-11 gene (ddx11, 601150.0001)

•

en:caused by mutation in the diacylglycerol o-acyltransferase 1 gene (dgat1, 604900.0001)

•

en:caused by mutation in the dmx-like 2 gene (dmxl2, 612186.0001)

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily b, member 6 gene (dnajb6, 611332.0001)

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 5 gene (dnajc5, 611203.0001)

•

en:caused by mutation in the downstream of tyrosine kinase 7 gene (dok7, 610285.0009).

•

en:caused by mutation in the complex i, subunit nd3 gene (mtnd3, 516002.0001)

•

en:caused by mutation in the dynein, axonemal, intermediate chain 1 gene (dnai1, 604366.0001).

•

en:caused by mutation in the ectodysplasin a gene (eda, 300451.0014)

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0020)

•

en:caused by mutation in the elastin gene (eln, 130160.0008)

•

en:caused by mutation in the ets2 repressor factor gene (erf, 611888.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 4 gene (ercc4, 133520.0001)

•

en:caused by mutation in the family with sequence similarity 111, member b gene (fam111b, 615584.0001)

•

en:caused by mutation in the fatty acyl coa reductase 1 gene (far1, 616107.0001)

•

en:caused by mutation in the cyclic nucleotide-gated channel, beta-3 gene (cngb3, 605080.0001)

•

en:caused by mutation in the collagen xi, alpha-1 polypeptide gene (col11a1, 120280.0001)

•

en:caused by mutation in the camp-dependent regulatory subunit 1 of protein kinase a gene (prkar1a, 188830.0015)

•

en:caused by mutation in the cochlin gene (coch, 603196.0001)

•

en:caused by mutation in the carbohydrate sulfotransferase 8 gene (chst8, 610190.0001)

•

en:caused by mutation in the caspase recruitment domain-containing protein 14 gene (card14, 607211.0006)

•

en:caused by mutation in the cd3 antigen, gamma subunit gene (cd3g, 186740.0001)

•

en:caused by mutation in the cd79a antigen gene (cd79a, 112205.0001)

•

en:caused by mutation in the cd96 gene (cd96, 606037.0001)

•

en:caused by mutation in the chloride channel 2 gene (clcn2, 600570.0006)

•

en:caused by mutation in the chloride channel 7 gene (clcn7, 602727.0004)

•

en:caused by mutation in the coagulation factor xii gene (f12, 610619.0006)

•

en:caused by mutation in the coenzyme a synthase gene (coasy, 609855.0001)

•

en:caused by mutation in the collagen vi, alpha-3 polypeptide gene (col6a3, 120250.0002)

•

en:caused by mutation in the coiled-coil and c2 domains-containing protein 2a (cc2d2a, 612013.0001)

•

en:caused by mutation in the collagen, type iv, alpha-1 gene (col4a1, 120130.0001)

•

en:caused by mutation in the collagen, type iv, alpha-5 gene (col4a5, 303630.0001)

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0007)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0001)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0003)

•

en:caused by mutation in the collagen iv, alpha-1 polypeptide gene (col4a1, 120130.0007)

•

en:caused by mutation in the collagen vi, alpha-2 gene (col6a2, 120240.0011)

•

en:caused by mutation in the type v collagen, alpha-1 gene (col5a1, 120215.0005)

•

en:caused by mutation in the homolog of the drosophila muscle segment homeo box (msx1, 142983.0004)

•

en:caused by mutation in the udp-gal:beta-gal beta-1,3-galactosyltransferase polypeptide 6 gene (b3galt6, 615291.0007)

•

en:caused by mutation in the plastin 3 gene (pls3, 300131.0001)

•

en:caused by mutation in the nuclear factor kappa-beta, subunit 2 gene (nfkb2, 164012.0001)

•

en:caused by mutation in the ofd1 gene (ofd1, 300170.0007).

•

en:caused by mutation in the ofd1 protein gene (ofd1, 300170.0001)

•

en:caused by mutation in the paired box gene 3 (pax3, 606597.0009)

•

en:caused by mutation in the peptidyl-prolyl isomerase b gene (ppib, 123841.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-2 gene (pex2, 170993.0001)

•

en:caused by mutation in the phosphoserine aminotransferase 1 gene (psat1, 610936.0003)

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene (plod3, 603066.0001)

•

en:caused by mutation in the nonerythrocytic beta 2 spectrin gene (sptbn2, 604985.0001)

•

en:caused by mutation in the protein kinase, amp-activated, noncatalytic, gamma-2 gene (prkag2, 602743.0001)

•

en:caused by mutation in the protein s gene (pros1, 176880.0010)

•

en:caused by mutation in the proteolipid protein 1 gene (plp1, 300401.0001)

•

en:caused by mutation in the pr domain-containing protein-16 gene (prdm16, 605557.0001)

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 1 gene (rab3gap1, 602536.0001)

•

en:caused by mutation in the ranbp-type and c3hc4-type zinc finger-containing 1 gene (rbck1, 610924.0001)

•

en:caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (ripk4, 605706.0001)

•

en:caused by mutation in the recombination-activating gene 1 (rag1, 179615.0018)

•

en:caused by mutation in the nonmuscle myosin heavy chain 14 gene (myh14, 608568.0006)

•

en:caused by mutation in the nerve growth factor-beta gene (ngfb, 162030.0001)

•

en:caused by mutation in the retinal rod photoreceptor cgmp phosphodiesterase, beta subunit gene (pde6b, 180072.0001)

•

en:caused by mutation in the uridine monophosphate synthetase gene (umps, 613891.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae rad51a gene (rad51a, 179617.0001)

•

en:caused by mutation in the immunoglobulin superfamily, member 1 gene (igsf1, 300137.0001)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (itpr1, 147265)

•

en:caused by mutation in the interleukin-36 receptor antagonist gene (il36rn, 605507.0001)

•

en:caused by mutation in the kelch-like 7 gene (klhl7, 611119.0001)

•

en:caused by mutation in the keratin 74 gene (krt74, 608248.0001)

•

en:caused by mutation in the kinesin family member 1a gene (kif1a, 601255.0002)

•

en:caused by mutation in the laminin alpha-3 gene (lama3, 600805.0001)

•

en:caused by mutation in the malonyl-coa decarboxylase gene (mlycd, 606761.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) flavoprotein 2 gene (ndufv2, 600532.0001)

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0009)

•

en:caused by mutation in the microtubule-associated protein tau gene (mapt, 157140.0019)

•

en:caused by mutation in the mitochondrial complex i, subunit nd6 gene (mtnd6, 516006.0005)

•

en:caused by mutation in the mitochondrial genome maintenance exonuclease 1 gene (mgme1, 615076.0001)

•

en:caused by mutation in the mitochondrial rna-processing endoribonuclease gene (rmrp, 157660.0009)

•

en:caused by mutation in the myosin 5a gene (myo5a, 160777.0004)

•

en:caused by mutation in the myosin heavy chain 3 gene (myh3, 160720.0005)

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex 10 gene (ndufa10, 603835.0001)

•

en:caused by mutation in the regulator of telomere elongation helicase 1 gene (rtel1, 608833.0001)

•

en:caused by mutation in the ribonuclease h2, subunit b gene (rnaseh2b, 610326.0001)

•

en:caused by mutation in the homolog of the drosophila orthodenticle 2 gene (otx2, 600038.0006)

•

en: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)

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0001)

•

en:caused by mutation in the ubiquitin carboxyl-terminal esterase l1 gene (uchl1, 191342.0003)

•

en:caused by mutation in the vacuolar protein sorting 13a gene (vps13a, 605978.0001)

•

en:caused by mutation in the vps33b-interacting protein, apical-basolateral polarity regulator gene (vipar, 613401.0001)

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0004)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10a gene (wnt10a, 606268.0001)

•

en:caused by mutation in the wnk lysine deficient protein kinase 1 gene (wnk1, 605232.0001)

•

en:caused by mutation in the x-prolyl aminopeptidase 3 gene (xpnpep3, 613553.0001)

•

en:caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (gnas1, 139320.0008)

•

en:caused by mutation in the tenascin xb gene (tnxb, 600985.0001)

•

en:contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between bp1 and bp2 on 15q11.2

•

en:contiguous gene syndrome caused by deletion (580kb-22.5mb) of 3q13.31

•

en:susceptibility conferred by mutation in the breast cancer 1 gene (brca1, 113705.0001)

•

en:susceptibility conferred by mutation in the cyclin-dependent kinase-4 gene (cdk4, 123829.0001)

•

en:susceptibility conferred by mutation in the homolog of the mouse aristaless-like 4 gene (alx4, 605420.0009)

•

en:susceptibility conferred by mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

en:susceptibility conferred by mutation in the voltage-dependent calcium channel, l type, alpha-1s subunit gene (cacna1s, 114208.0005)

•

en:susceptibility conferred by somatic mutation in the sh2b adaptor protein 3 (sh2b3, 605093.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0030)

•

en:caused by mutation in the telo2-interacting protein 2 gene (tti2, 614426.0001)

•

en:caused by mutation in the ring finger protein 125 gene (rnf125, 610432.0001)

•

en:caused by mutation in the smad nuclear interacting protein-1 gene (snip1, 608241.0001)

•

en:caused by mutation in the rotatin gene (rttn, 610436.0001)

•

en:caused by mutation in the rp9 gene (rp9, 607331.0002)

•

en:caused by mutation in the runt-related transcription factor 2 gene (runx2, 600211.0001)

•

en:caused by mutation in the serpin peptidase inhibitor, clade b (ovalbumin), member 7 gene (serpinb7, 603357.0001)

•

en:caused by mutation in the serpin peptidase inhibitor, clade h, member 1 (serpinh1, 600943.0002)

•

en:caused by mutation in the sh3 domain-binding protein-2 gene (sh3bp2, 602104.0001)

•

en:caused by mutation in the skeletal muscle chloride channel-1 gene (clcn1, 118425.0001)

•

en:caused by mutation in the skeletal muscle receptor tyrosine kinase gene (musk, 601296.0001).

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (slc26a2, 606718.0002)

•

en:caused by mutation in the teashirt zinc finger homeobox-1 gene (tshz1, 614427.0001)

•

en:caused by mutation in the solute carrier family 29 (nucleoside transporter), member 3 gene (slc29a3, 612373.0001)

•

en:caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (slc34a2, 604217.0001)

•

en:caused by mutation in the solute carrier family 6 (dopamine neurotransmitter transporter), member 3 gene (slc6a3, 126455.0002)

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0006)

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0006).

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0003)

•

en:caused by mutation in the synaptic nuclear envelope protein-1 gene (syne1, 608441.0001)

•

en:caused by mutation in the syntaxin 1b gene (stx1b, 601485.0001)

•

en:caused by mutation in the homolog of the e. coli atp-dependent protease clpap, proteolytic subunit gene (clpp, 601119.0001)

•

en:caused by mutation in the lecithin retinol acyltransferase gene (lrat, 604863.0001)

•

en:caused by mutation in the homolog of the drosophila dachsous 1 gene (dchs1, 603057.0001)

•

en:caused by mutation in the homolog of the drosophila bicaudal d, 2 gene (bicd2, 609797.0001)

•

en:caused by mutation in a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 gene (adamts10, 608990.0001)

•

en:caused by mutation in the 6-@pyruvoyl-tetrahydropterin synthase gene pts, (612719.0001)

•

en:caused by mutation in the adenylate kinase-2 gene (ak2, 103020.0001)

•

en:caused by mutation in the alpha-1-subunit of the voltage-gated type ii sodium channel gene (scn2a, 182390.0002)

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0016)

•

en:caused by mutation in the angiotensinogen gene (agt, 106150.0003)

•

en:caused by mutation in the ankyrin 1 gene (ank1, 182900.0001)

•

en:caused by mutation in the arginase gene (arg1, 207800.0001)

•

en:caused by mutation in the aspartate beta-hydroxylase gene (asph, 600582.0001)

•

en:caused by mutations in the solute carrier family 16, monocarboxylic acid transporter, member 1 gene (slc16a1, 600682.0001).

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0008)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily g, member 8 gene (abcg8, 605460.0001)

•

en:caused by mutation in the atpase, cu++ transporting, alpha polypeptide gene (atp7a, 300011.0001)

•

en:caused by mutation in the atp synthase 6 gene (mtatp6, 516060.0001)

•

en:caused by mutation in the bbs10 gene (bbs10, 610148.0001)

•

en:caused by mutation in the bbs4 gene (bbs4, 600374.0001)

•

en:caused by mutation in the beta-1,3-glucuronyltransferase 3 gene (b3gat3, 606374.0001)

•

en:caused by mutations in the succinate dehydrogenase complex subunit c gene (sdhc, 602413.0001)

•

en:caused by mutations in the ret protoncogene (ret, 1645761.0001)

•

en:caused by mutation in the bruton agammaglobulinemia tyrosine kinase gene (btk, 300300.0001)

•

en:caused by somatic mutation in the v-ki-ras2 kirsten rat sarcoma viral oncogene homolog gene (kras, 190070.0005)

•

en:caused by mutation in the voltage-gated sodium channel, type i, beta subunit gene (scn1b, 600235.0001)

•

en:caused by mutation in the von hippel-lindau gene (vhl, 608537.0001)

•

en:caused by mutation in the zeta-chain-associated protein kinase 70 gene (zap70, 176947.0001)

•

en:caused by mutation in the zinc finger and btb-domain containing 20 gene (zbtb20, 606025.0001)

•

en:caused by mutation in the zinc metalloproteinase ste24 gene (zmpste24, 606480.0003)

•

en:caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (gnas1, 139320.0008)

•

en:caused by somatic mutation in the gnas gene (gnas1, 139320.0009)

•

en:caused by somatic mutation in the neuroblastoma ras viral oncogene homolog gene (nras, 164790.0003)

•

en:conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (dstyk, 612666.0001)

•

en:caused by mutations in the pkhd1 gene (606702.0001).

•

en:contiguous gene syndrome involving deletions of the collagen, type iv, alpha-5 (col4a5, 303630) and collagen, type iv, alpha-6 (col4a6, 303631) genes

•

en:due to mutation in the aspartylglucosaminidase gene (aga, 208400.0001)

•

en:due to mutation in the retinol-binding protein 4 gene (rbp4, 180250.0001)

•

en:susceptibility conferred by 9-snp haplotype in malic enzyme 2 (me2, 154270.0001)

•

en:susceptibility conferred by mutation in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0018)

•

en:caused by a (cctg)n repeat expansion in the zinc finger protein 9 gene (znf9, 116955.0001)

•

en:caused by mutations in the atp-binding cassette, subfamily c, member 6 gene (abcc6, 603234.0005)

•

en:caused by mutations in the ocrl1 gene (ocrl1, 300535.0001)

•

en:caused by mutation in the beta-1,3-n-acetylglucosaminyltransferase gene (b3gnt1, 605581.0001)

•

en:caused by mutation in the asparagine synthetase gene (asns, 108370.0001)

•

en:caused by mutation in the calcium/calmodulin-dependent serine protein kinase gene (cask, 300172.0001)

•

en:caused by mutation in the fibroblast growth factor 23 gene (fgf23, 605380.0003)

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0002)

•

en:caused by mutation in the ets variant gene 6 (etv, 600618.0003)

•

en:caused by mutation in the evc gene (evc, 604831.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 8 gene (ercc6, 609413.0009)

•

en:caused by mutation in the exosome component 8 gene (exosc8, 606019.0001)

•

en:caused by mutation in the f-box only protein 31 gene (fbxo31, 609102.0001)

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 2 gene (flvcr2, 610865.0001)

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 121050.0001)

•

en:caused by mutation in the carnitine palmitoyltransferase ia gene (cpt1a, 600528.0001)

•

en:caused by mutation in the dna polymerase, epsilon gene (pole, 174762.0002)

•

en:caused by mutation in the gamma-2 laminin gene (lamc2, 150292.0006)

•

en:caused by mutation in the gata-binding protein-3 gene (gata3, 131320.0001)

•

en:caused by mutation in the gene encoding growth/differentiation factor-g (gdf6, 601147.0001)

•

en:caused by mutation in the glycosyltransferase-like domain-containing protein 2 gene (gtdc2, 614828.0001)

•

en:caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor, beta (csf2rb, 138981.0001)

•

en:caused by mutation in the g protein-coupled receptor-179 gene (gpr179, 614515.0001)

•

en:caused by mutation in the heparan-alpha-glucosaminide n-acetyltransferase gene (hgsnat, 610453.0001)

•

en:caused by mutation in the hexokinase-1 gene (hk1, 142600.0003)

•

en:caused by mutation in the dynactin 1 gene (dctn1, 601143.0006)

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0006).

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 3 gene (dnajc3, 601184.0001)

•

en:caused by mutation in the collagen type viii alpha-2 gene (col8a2, 120252.0001)

•

en:caused by mutation in the dna-activated protein kinase, catalytic subunit gene (prkdc, 600899.0001)

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0001)

•

en:caused by mutation in the cd59 antigen gene (cd59, 107271.0001)

•

en:caused by mutation in the cd79b antigen gene (cd79b, 147245.0001)

•

en:caused by mutation in the cholinergic receptor, nicotinic, beta-1 subunit (chrnb1, 100710.0003)

•

en:caused by mutation in the cofilin 2 gene (cfl2, 601443.0001)

•

en:caused by mutation in the collagen, type iv, alpha-4 gene (col4a4, 120131.0001)

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0001)

•

en:caused by mutation in the chromosome 5 open reading frame 42 gene (c5orf42, 614571.0001)

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0007)

•

en:caused by mutation in the coronin 1a gene (coro1a, 605000.0001)

•

en:caused by mutation in the cyclin-dependent kinase inhibitor 1c gene (cdkn1c, 600856.0007)

•

en:caused by mutation in the cyclin o gene (ccno, 607752.0001)

•

en:caused by mutation in the cystatin b gene (cstb, 601145.0001)

•

en:caused by mutation in the cytochrome b5a gene (cyb5a, 613218.0001)

•

en:caused by mutation in the cytochrome c oxidase, subunit 15 gene (cox15, 603646.0001)

•

en:caused by mutation in the collagen x, alpha-1 polypeptide gene (col10a1, 120110.0001)

•

en:caused by mutation in the dihydrolipoamide acetyltransferase gene (dlat, 608770.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0001).

•

en:caused by mutation in the tubulin beta-1 gene (tubb1, 612901.0001).

•

en:caused by mutation in the trk-fused gene (tfg, 602498.0001)

•

en:caused by mutation in the transmembrane protein 5 gene (tmem5, 605862.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 gene (smarca4, 603254.0001)

•

en:caused by mutation in the thap domain-containing protein 1 gene (thap1, 609520.0001)

•

en:caused by mutation in the tetraspanin-12 gene (tspan12, 613138.0001)

•

en:caused by mutation in the synaptojanin-1 gene (synj1, 604297.0001)

•

en:caused by mutation in the succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 600857.0001)

•

en:caused by mutation in the ventral anterior homeobox-1 gene (vax1, 604924.0001)

•

en:caused by mutation in the tyrosyl-trna synthetase gene (yars, 603623.0001)

•

en:susceptibility conferred by mutation in the methyl-cpg binding protein-2 gene (mecp2, 300005.0011)

•

en:caused by mutation in the vesicle-associated membrane protein 1 gene (vamp1, 185880.0001)

•

en:caused by mutation in the voltage-dependent p/q type calcium channel alpha-1a subunit gene (cacna1a, 601011.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 3 gene (wnt3, 165330.0001)

•

en:caused by mutation in the wolframin gene (wfs1, 222300.0001)

•

en:caused by translocation disrupting the fibulin-1 gene (fbln1, 135820)

•

en:cause by mutation in the homolog of the s. cerevisiae alg2 gene (alg2, 607905.0001)

•

en:cause by mutation in the xylosyltransferase-1 gene (xylt1, 608124.0002)

•

en:contiguous gene deletion syndrome caused by deletion (3.5mb) of 1q32-q44

•

en:mutation in the axis inhibitor 2 gene (axin2, 604025.0003)

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

en:susceptibility conferred by mutation in the toll-like receptor-2 gene (tlr2, 603028.0001)

•

en:caused by mutation in the spatacsin gene (spg11, 610844.0001)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

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