Diko : en:caused by mutation in the ikaros family zinc finger 1 gene (ikzf1, 603023.0001)

(id=9089218)

en:caused by mutation in the ikaros family zinc finger 1 gene (ikzf1, 603023.0001)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

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umls:C4227535

Associations d'idées

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1000

en:contiguous gene deletion syndrome caused by deletion (650kb-3.7mb) of 17p11.2

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en:contiguous gene deletion of 12 mb encompassing 47 genes on 1p32-p31

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en:caused by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0001)

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en:caused by mutation in the ret protooncogene (ret, 164761.0014)

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en:caused by mutation in the mediator complex subunit 13-like gene (med13l, 608771.0001)

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en:caused by mutation in the keratin-14 gene (krt14, 148066.0004).

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en:caused by mutation in the k(lysine) acetyltransferase 6b gene (kat6b, 605880.0005)

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en:caused by mutation in the hps1 gene (hps1, 203300)

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en:caused by mutation in the homolog of the s. cerevisiae bms1 ribosome assembly protein gene (bms1, 611448.0001)

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

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en:caused by mutation in the gap junction protein, beta-6 gene (gjb6, 604418.0001)

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en:caused by mutation in the dystrophin-associated glycoprotein 1 gene (dag1, 128239.0001)

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en:caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (dync1h1, 600112.0002)

•

en:caused by mutation in the distal-less homeobox-4 gene (dlx4, 601911.0001)

•

en:caused by mutation in the cytochrome p450, family 4, subfamily f, polypeptide 22 gene (cyp4f22, 611495.0001)

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en:caused by mutation in the b9 domain-containing protein 2 gene (b9d2, 611951.0001)

•

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

•

en:caused by mutations in the transcription factor ap-2 beta gene (tfap2b, 601601.0001)

•

en:caused by mutations in the properdin p factor gene (pfc, 300383.0001)

•

en:caused by mutations in the parathyoid hormone receptor 1 gene (pthr1, 168468.0001)

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en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0001)

•

en:caused by mutation in the voltage-dependent calcium channel, n type, alpha-1b subunit gene (cacna1b, 601012.0001)

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en:caused by mutation in the ubiquitin-conjugating enzyme e2a gene (ube2a, 312180.0001)

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en:caused by mutation in the solute carrier family 4, anion exchanger, member 1 gene (slc4a1, 109270.0033)

•

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

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

•

en:caused by mutation in the nyctalopin gene (nyx, 300278.0001)

•

en:caused by mutation in the neuraminidase 1 gene (neu1, 608272.0001)

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

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en:caused by mutation in the myopalladin gene (mypn, 608517.0001)

•

en:caused by mutation in the mothers against decapentaplegic, drosophila, homolog of, 3 gene (smad3, 603109.0001)

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en:caused by mutation in the kinesin family member 7 gene (kif7, 611254.0009)

•

en:caused by mutation in the hepatocyte cell adhesion molecule gene (hepacam, 611642.0001)

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en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0005)

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0002)

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en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0029)

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

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en:caused by mutation in the aurora kinase c gene (aurkc, 603495.0001)

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en:caused by mutation in the atpase, class i, type 8b, member 1 gene (atp8b1, 602397.0001)

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0004)

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en:caused by mutations in the homolog of the mouse noggin gene (nog, 602991.0013)

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en:caused by trinucleotide repeat expansion (cag)n in the ataxin-3 gene (mjd, 607047.0001)

•

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

•

en:caused by mutation in the phospholipase a2, group vi gene (pla2g6, 603604.0001)

•

en:caused by mutation in the phosphodiesterase-6g, cgmp-specific, rod, gamma gene (pde6g, 180073.0001)

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en:caused by mutation in the peroxisome biogenesis factor-14 gene (pex14, 601791.0001)

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en:caused by mutation in the hyls1 gene (hyls1, 610693.0001)

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

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en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0013)

•

en:caused by mutation in the 3-prime repair exonuclease 1 gene (trex1, 606609.0008)

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en:caused by trinucleotide repeat expansion (cag)n in the drpla gene (drpla, 607462.0001)

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

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en:caused by mutation in the spartin gene (spg20, 607111.0001)

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

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en:caused by mutation in the ryanodine receptor-1 gene (ryr1, 180901.0025)

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

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

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

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en:caused by mutation in the myeloproliferative leukemia virus oncogene (mpl, 159530.0009)

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en:caused by mutation in the muscarinic cholinergic receptor-3 gene (chrm3, 118494.0001)

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en:caused by mutation in the membrane-type frizzled-related protein gene (mfrp, 606227.0005)

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en:caused by mutation in the kinesin family member 1a gene (kif1a, 601255.0001)

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en:caused by mutation in the grhl2 gene (608576.0001)

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

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en:caused by mutation in the dynein, cytoplasmic 2, heavy chain 1 gene (dync2h1, 603297.0001)

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en:caused by mutation in the dopa decarboxylase gene (ddc, 107930.0001)

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

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en:caused by mutation in the bcl2-associated athanogene 3 gene (bag3, 603883.0001)

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en:caused by imprinting defect on chromosome 14q32

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en:susceptibility conferred by mutation in the melanocortin 2 receptor accessory protein 2 gene (mrap2, 615410.0001)

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en:hcs is a contiguous gene syndrome caused by 23.8-75.5kb deletion containing the slc3a1 (104614) and prepl (609557) genes

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en:caused by mutation in the tubby-like protein 1 gene (tulp1, 602280.0004)

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en:caused by mutation in the tenascin xb gene (tnxb, 600985.0006)

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en:caused by mutation in the retinoschisin gene (rs1, 300839.0001)

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en:caused by mutation in the nicotinamide nucleotide transhydrogenase gene (nnt, 607878.0001)

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en:caused by mutation in the lysyl-trna synthetase gene (kars, 601421.0001)

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

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en:caused by mutation in the cytochrome c oxidase subunit x gene (cox10, 602125.0001)

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

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en:caused by mutation in the collagen ii, alpha-polypeptide gene (col2a1, 120140.0055)

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en:caused by mutation in the camp-dependent protein kinase, regulatory, type i, alpha gene (prkar1a, 188830.0009)

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en:caused by deletion of at least 600kb in 10q26.2

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en:caused by a deletion of 11q23

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

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en:caused by mutation in the voltage-gated sodium channel 9 alpha-subunit gene (scn9a, 603415.0001)

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

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en:caused by mutation in the plectin-1 gene (plec1, 601282.0014)

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en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 4 gene (ndufs4, 602694.0004)

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en:caused by mutation in the mitochondrial rna-processing endoribonuclease gene (rmrp, 157660.0009)

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en:caused by mutation in the long-chain base subunit 1 of the serine palmitoyltransferase gene (sptlc1, 605712.0001)

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en:caused by mutation in the kit ligand gene (kitlg, 184745.0006)

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en:caused by mutation in the iodotyrosine deiodinase gene (iyd, 612025.0001)

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en:caused by mutation in the homolog of s. cerevisiae rad51 gene (rad51, 179617.0003)

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en:caused by mutation in the elongation factor tu gtp-binding domain-containing 2 gene (eftud2, 603892.0001)

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en:caused by mutation in the dolichyl-phosphate n-acetylglucosamine phosphotransferase gene (dpagt1, 191350.0002)

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

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

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en:caused by mutation in the cytochrome c oxidase, subunit iv, isoform 2 gene (cox4i2, 607976.0001)

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en:caused by mutation in the aldehyde dehydrogenase 7 family, member a1 gene (aldh7a1, 107323.0001)

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en:caused by mutation in the activin a receptor, type i gene (acvr1, 102576.0001)

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en:contiguous gene syndrome caused by minimum 660kb deletion within a hotspot on chromosome 15q25.2-q25.3

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en:caused by mutation in the rna-binding motif protein 10 gene (rbm10, 300080.0001)

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en:caused by mutation in the protein phosphatase-1, regulatory subunit-15b gene (ppp1r15b, 613257.0001)

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en:caused by mutation in the protein o-mannosyltransferase 2 gene (pomt2, 607439.0004)

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en:caused by mutation in the protein kinase, amp-activated, noncatalytic, gamma-2 gene (prkag2, 602743.0001)

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en:caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 2 gene (kcna2, 176262.0001)

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en:caused by mutation in the platelet-derived growth factor, beta polypeptide gene (pdgfb, 190040.0003)

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en:caused by mutation in the phosphatidylinositol glycan, class y gene (pigy, 610662.0001) creation date : cassandra l. kniffin : 2/11/2016

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en:caused by mutation in the patatin-like phospholipase domain-containing protein 8 gene (pnpla8, 612123.0001) creation date : john f. jackson : 6/15/1995

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en:caused by mutation in the keratin 14 gene (krt14, 148066.0001)

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en:caused by mutation in the gamma peroxisome proliferator activated receptor gene (pparg, 601487.0001)

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en:caused by mutation in the dynamin 1-like gene (dnm1l, 603850.0001)

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en:caused by mutation in the chromosome alignment-maintaining phosphoprotein 1 gene (champ1, 616327.0001)

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en:caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (chrna1, 100690.0001)

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en:caused by mutation in the caspase recruitment domain containing 9 (card9, 607212.0001)

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en:caused by mutation in the amyloid precursor protein gene (app, 104760.0001)

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en:caused by mutation in the alpha-n-acetylgalactosaminidase gene (naga, 104170.0001)

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en:caused by mutation in the 41-kd centrosomal protein gene (cep41, 610523.0001)

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en:caused by mutation in the wfs1 gene (wfs1, 606201.0032)

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en:caused by mutation in the t-box 15 gene (tbx15, 604127.0001)

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en:caused by mutation in the son of sevenless gene (sos1, 182530.0002)

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en:caused by mutation in the slit- and ntrk-like family, member 1 gene (slitrk1, 609678.0001)

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

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en:caused by mutation in the phospholamban gene (pln, 172405.0002)

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en:caused by mutation in the nadh dehydrogenase, subunit 5 gene (mtnd5, 516005.0003)

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

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en:caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0006)

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

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en:caused by mutation in the growth arrest-specific 8 gene (gas8, 605178.0001)

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en:caused by mutation in the glutaredoxin, cysteine-rich, 2 gene (grxcr2, 615762.0001)

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en:caused by mutation in the forkhead box g1 gene (foxg1, 164874.0001)

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en:caused by mutation in the filamin a gene (flna, 300017.0001)

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en:caused by mutation in the dynamin-2 gene (dnm2, 602378.0001)

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en:caused by mutation in the dna-activated protein kinase, catalytic subunit gene (prkdc, 600899.0001)

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en:caused by mutation in the dihydroorotate dehydrogenase gene (dhodh, 126064.0001)

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en:caused by mutation in the cytochrome c oxidase iii gene (mtco3, 516050.0001)

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en:caused by mutation in the cyclin-dependent kinase 5 gene (cdk5, 123831.0001)

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en:caused by mutation in the complement component 3 gene (c3, 120700.0001)

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en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0002)

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en:caused by mutation in the cd79b antigen gene (cd79b, 147245.0001)

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en:caused by mutation in the alanine-glyoxylate aminotransferase gene (agxt, 604285.0001)

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en:caused by mutations in the atp-binding cassette, subfamily c, member 6 gene (abcc6, 603234.0001)

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en:caused by microdeletions of 11p13

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en:contiguous gene syndrome resulting from hemizygous deletion 1.5 - 1.8 mb on 7q11.2

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en:caused by mutation in the zinc metalloproteinase ste24 gene (zmpste24, 606480.0003)

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en:caused by mutation in the tripartite motif-containing protein 2 gene (trim2, 614141.0001)

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en:caused by mutation in the phosphoribosylpyrophosphate synthetase i gene (prps1, 311850.0001)

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

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en:caused by mutation in the lamin a/c gene (lmna, 150330.0001)

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en:caused by mutation in the kinesin family member 1b gene (kif1b, 605995.0001)

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en:caused by mutation in the intestinal zinc-specific transporter gene (slc39a4, 607059.0001)

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en:caused by mutation in the homolog of drosophila frizzled-6 gene (fzd6, 603409.0001)

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en:caused by mutation in the glutamate decarboxylase 1 gene (gad1, 605363.0001)

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en:caused by mutation in the gap junction alpha-12 gene (gja12, 608803.0001)

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

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en:caused by mutation in the dynein, axonemal, light chain 4 gene (dnal4, 610565.0001)

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en:caused by mutation in the cyclin m2 gene (cnnm2, 607803.0003)

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en:caused by mutation in the cyclin-dependent kinase inhibitor 1c gene (cdkn1c, 600856.0001)

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en:caused by mutation in the arachidonate lipoxygenase-3 gene (aloxe3, 607206.0001)

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en:susceptibility conferred by mutation in the protection of telomeres 1 gene (pot1, 606478.0009)

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en:susceptibility conferred by mutation in the methyl-cpg binding protein-2 gene (mecp2, 300005.0011)

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en:contiguous gene syndrome caused by duplication (700-kb) of chromosome 14q32

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en:caused by somatic mutation in the gnas gene (gnas1, 139320.0009)

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en:caused by mutation in the wolframin gene (wfs1, 222300.0001)

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en:caused by mutation in the wd repeat-containing protein 73 gene (wdr73, 616144.0001)

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en:caused by mutation in the ring finger- and spry domain-containing protein-1 gene (rspry1, 616585.0001)

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en:caused by mutation in the protein-tyrosine phosphatase receptor-type, q gene (ptprq, 603317.0001)

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en:caused by mutation in the pou domain, class 1, transcription factor 1 gene (pou1f1, 173110.0001)

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en:caused by mutation in the potassium inwardly-rectifying channel, subfamily j, member 13 gene (kcnj13, 603208.0002)

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en:caused by mutation in the phosphomannomutase 2 gene (pmm2, 601785.0001)

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en:caused by mutation in the nuclear factor kappa-b, subunit 1 gene (nfkb1, 164011.0001)

•

en:caused by mutation in the integrin, alpha-2b gene (itga2b, 607759.0002)

•

en:caused by mutation in the fk506-binding protein 10 gene (fkbp10, 607063.0001)

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

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en:caused by mutation in the cyclin m2 gene (cnnm2, 607803.0001)

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en:caused by mutation in the atpase, cu++ transporting, beta polypeptide gene (atp7b, 277900.0001)

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en:caused by mutation in the atpase, ca(2+)-transporting, type 2c, member 1 gene (atp2c1, 604384.0001)

•

en:caused by mutation in the aprataxin gene (aptx, 606350.0001).

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en:contiguous gene syndrome caused by deletion of 18p11.21-p11.1

•

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

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

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en:caused by mutation in the transportin 3 gene (tnpo3, 610032.0001)

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en:caused by mutation in the rna polymerase i and transcript release factor gene (ptrf, 603198.0001)

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en:caused by mutation in the reticulon 4-interacting protein-1 gene (rtn4ip1, 610502.0001)

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en:caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 11 (ptpn11, 176876.0005)

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

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en:caused by mutation in the excision repair cross complementing rodent repair deficiency, complementation group 6 gene (ercc6, 133540.0007)

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

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en:caused by mutation in the dystrobrevin-binding protein 1 gene (dtnbp1, 607145.0001)

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en:caused by mutation in the cytochrome c oxidase subunit iii gene (mtco3, 516050.0004)

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en:caused by mutation in the chromosome 7 open reading frame 10 gene (c7orf10, 609187.0001)

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

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en:caused by mutation in the rna polymerase iii, subunit b gene (polr3b, 614366.0001)

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en:caused by mutation in the ret protooncogene (ret, 164761.0013)

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0001)

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

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en:caused by mutation in the mmachc gene (mmachc gene 609831.0001)

•

en:caused by mutation in the lim homeo box gene 4 (lhx4, 602146.0001)

•

en:caused by mutation in the kiss1 receptor gene (kiss1r, 604161.0001)

•

en:caused by mutation in the guanidinoacetate methyltransferase gene (gamt, 601240.0001)

•

en:caused by mutation in the gastric intrinsic factor gene (gif, 609342.0001).

•

en:caused by mutation in the gamma-b crystallin gene (crygb, 123670.0001)

•

en:caused by mutation in the complement factor h gene (cfh, 134370.0002)

•

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

•

en:caused by mutation in the chromosome 8 open reading frame 37 gene (c8orf37, 614477.0001)

•

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 alpha-tubulin 1a gene (tuba1a, 602529.0001)

•

en:caused by mutation in the actin, alpha, skeletal muscle 1 gene (acta1, 102610.0018)

•

en:caused by mutation in the acetylglucosaminyltransferase-like protein (large, 603590.0001)

•

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 beta-3-adrenergic receptor gene (adrb3, 109691.0001)

•

en:caused by mutation in the solute carrier family 26, member 5 gene (slc26a5, 604943.0002)

•

en:caused by mutation in the phosphatidylinositol glycan, class o gene (pigo, 614730.0001)

•

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

•

en:caused by mutation in the matrix metalloproteinase 2 gene (mmp2, 120360.0001)

•

en:caused by mutation in the lamin b receptor gene (lbr, 600024.0007)

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 609309.0014)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0026)

•

en:caused by mutation in the coagulation factor ii gene (f2, 176930.0001)

•

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

•

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

•

en:caused by mutation in the transmembrane protein 173 gene (tmem173, 612374.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily c, member 3 gene (trpc3, 602345.0001)

•

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

•

en:caused by mutation in the myosin viia gene (myo7a, 276903.0001)

•

en:caused by mutation in the mitogen-activated protein kinase kinase 1 gene (map2k2, 601263.0001)

•

en:caused by mutation in the mitochondrial methionyl-trna formyltransferase gene (mtfmt, 611766.0001)

•

en:caused by mutation in the indian hedgehog gene (ihh, 600726.0005)

•

en:caused by mutation in the homolog of c. elegans unc119 gene (unc119, 604011.0002)

•

en:caused by mutation in the gonadtropin-releasing hormone receptor gene (gnrhr, 138850.0001)

•

en:caused by mutation in the glutamate receptor, ionotropic, ampa, 3 gene (gria3, 305915.0001)

•

en:caused by mutation in the collagen vi, alpha-2 polypeptide gene (col6a2, 120240.0002)

•

en:caused by mutation in the camp-dependent protein kinase, regulatory, type i, alpha gene (prkar1a, 188830.0001)

•

en:caused by mutation in the bromodomain-and wd repeat domain-containing protein 3 gene (brwd3, 300553.0001)

•

en:caused by mutation in the argininosuccinate synthetase gene (ass, 603470.0001)

•

en:caused by mutation in the alsin gene (als2, 606352.0005)

•

en:caused by fusion of the fip1-like 1 gene (fip1l1, 607686) and the platelet-derived growth factor receptor-alpha gene (pdgfra, 173490)

•

en:susceptibility conferred by somatic mutation in the serine/threonine protein kinase 11 gene (stk11, 602216.0015)

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0003)

•

en:caused by mutation in the trna nucleotidyltransferase, cca-adding, 1 gene (trnt1, 612907.0001)

•

en:caused by mutation in the tachykinin receptor-3 gene (tac3r, 162332.0001)

•

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

•

en:caused by mutation in the nonerythrocytic beta-spectrin 2 gene (sptbn2, 604985.0004)

•

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

•

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

•

en:caused by mutation in the keratin 3, type ii gene (krt3, 148043.0001)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae nfu1 iron-sulfur cluster scaffold gene (nfu1, 608100.0001)

•

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 excision-repair cross-complementing group 8 gene (ercc8, 609412.0006)

•

en:caused by mutation in the dolichyl-phosphate n-acetylglucosamine phosphotransferase gene (dpagt1, 191350.0001)

•

en:caused by mutation in the dead box polypeptide-58 gene (ddx58, 609631.0001)

•

en:caused by mutation in the ccm2 gene (ccm2, 607929.0001)

•

en:caused by mutation in the calmodulin-2 gene (calm2, 114182.0001)

•

en:caused by mutation in the calcium channel, voltage-dependent, l type, alpha 1d subunit gene (cacna1d, 114206.0002)

•

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

•

en:contiguous gene syndrome caused by deletion of 91.3kb on chromosome 11p11.2 involving the creb3l1 (616215) and dgkz (601441) genes

•

en:caused by mutation in the type iii voltage-gated sodium channel beta subunit gene (scn3b, 608214.0001)

•

en:caused by mutation in the telomerase reverse transcriptase gene (tert, 187270.0007)

•

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

•

en:caused by mutation in the polyribonucleotide nucleotidyltransferase 1 gene (pnpt1, 610316.0001)

•

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

•

en:caused by mutation in the mads box transcription enhancer factor 2, polypeptide a gene (mef2a, 600660.0001)

•

en:caused by mutation in the iq motif-containing protein b1 gene (iqcb1, 609237.0001)

•

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

•

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

•

en:caused by mutation in the bbs12 gene (bbs12, 610683.0001)

•

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

•

en:translocation of cellular oncogene c-abl (189980) to the bcr gene on chromosome 22 resulting in chimeric brc-abl gene

•

en:susceptibility conferred by somatic mutation in the tumor protein 53 gene (tp53, 191170.0027)

•

en:susceptibility conferred by mutation in the thrombomodulin gene (thbd, 188040.0005)

•

en:susceptibility conferred by mutation in the promoter of the nitric oxide synthase-1 gene (nos1, 163731.0001)

•

en:susceptibility conferred by mutation in the paired box gene 4 (pax4, 167413.0022 )

•

en:susceptibility conferred by mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

en:susceptibility conferred by mutation in the adaptor-related protein complex 1, sigma-3 subunit gene (ap1s3, 615781.0001)

•

en:contiguous gene syndrome caused by deletion (580kb-22.5mb) of 3q13.31

•

en:contiguous gene deletion of at least 16mb encompassing 39 genes on 13q14

•

en:caused my mutation in the kallikrein b plasma 1 gene (klkb1, 229000.0001)

•

en:caused by somatic mutation in the neuroblastoma ras viral oncogene homolog gene (nras, 164790.0003)

•

en:caused by mutation in the zinc finger protein of cerebellum-1 gene (zic1, 600470.0001)

•

en:caused by mutation in the zeta-chain-associated protein kinase 70 gene (zap70, 176947.0001)

•

en:caused by mutation in the x-prolyl aminopeptidase 3 gene (xpnpep3, 613553.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 7a gene (wnt7a, 601570.0001)

•

en:caused by mutation in the wd repeat-containing protein 60 gene (wdr60, 615462.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type xi, alpha subunit gene (scn11a, 604385.0002)

•

en:caused by mutation in the voltage-gated, type x, alpha subunit gene (scn10a, 604427.0001)

•

en:caused by mutation in the uridine monophosphate synthetase gene (umps, 613891.0001)

•

en:caused by mutation in the upf3, b, yeast homolog gene (upf3b, 300298.0001)

•

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

•

en:caused by mutation in the trk-fused gene (tfg, 602498.0001)

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0001)

•

en:caused by mutation in the transmembrane protein 240 gene (tmem240, 616101.0001)

•

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

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0014)

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0007)

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0001)

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0001)

•

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 solute carrier family 35, cmp-sialic acid transporter, member 1 gene (slc35a1, 605634.0001)

•

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 solute carrier family 26, member 4 gene (slc26a4, 605646.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, aralar), member 12 gene (slc25a12, 603667.0001)

•

en:caused by mutation in the signal transducer and activator of transcription 2 (stat2, 600556.0001)

•

en:caused by mutation in the short stature homeo box gene (shox, 312865.0002)

•

en:caused by mutation in the sh3 and cystein-rich domains 3 gene (stac3, 615521.0001)

•

en:caused by mutation in the secreted modular calcium-binding protein 2 gene (smoc2, 607223.0001)

•

en:caused by mutation in the scy1-like 1 gene (scyl1, 607982.0001)

•

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

•

en:caused by mutation in the regulator of telomere elongation helicase 1 gene (rtel1, 608833.0001)

•

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

•

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

•

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 pr domain-containing protein 12 gene (prdm12, 616458.0001)

•

en:caused by mutation in the protoporphyrinogen oxidase gene (ppox, 600923.0001)

•

en:caused by mutation in the protein kinase c, gamma polypeptide gene (prkcg, 176980.0001)

•

en:caused by mutation in the proteasome maturation protein gene (pomp, 613386.0001)

•

en:caused by mutation in the proprotein convertase 1 gene (pc1, 162150.0001)

•

en:caused by mutation in the prolyl hydroxylase domain-containing protein 2 gene (egln1, 606425.0001)

•

en:caused by mutation in the prickle-like 1 gene (prickle1, 608500.0001)

•

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

•

en:caused by mutation in the prenyl diphosphate synthase, subunit 1 gene (pdss1, 607429.0001)

•

en:caused by mutation in the pou domain, class 3, transcription factor 4 gene (pou3f4, 300039.0001)

•

en:caused by mutation in the potassium voltage-gated channel, isk-related subfamily, member 1 gene (kcne1, 176261.0001)

•

en:caused by mutation in the potassium channel tetramerisation domain containing 7 gene (kctd7, 611725.0001)

•

en:caused by mutation in the potassium channel, subfamily t, member 1 gene (kcnt1, 608167.0001)

•

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

•

en:caused by mutation in the platelet glycoprotein ib, alpha polypeptide, gene (gp1ba, 606672.0001)

•

en:caused by mutation in the plakophilin-2 gene (602861.0001)

•

en:caused by mutation in the piezo-type mechanosensitive ion channel component 2 gene (piezo2, 613629.0004)

•

en:caused by mutation in the phosphomevalonate kinase gene (pmvk, 607622.0001)

•

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

•

en:caused by mutation in the phosphodiesterase 8b gene (pde8b, 603390.0002).

•

en:caused by mutation in the phosphatidylinositol glycan, class v gene (pigv, 610274.0001)

•

en:caused by mutation in the periaxin gene (prx, 605725.0005)

•

en:caused by mutation in the nuclear receptor subfamily 0, group b, member 1 gene (nr0b1, 300473.0001)

•

en:caused by mutation in the npc1 gene (npc1, 607623.0001)

•

en:caused by mutation in the non-pou domain-containing octamer-binding protein gene (nono, 300084.0001)

•

en:caused by mutation in the neurofibromin gene (nf1, 162200.0018)

•

en:caused by mutation in the nephrocystin gene (nphp1, 607100.0005)

•

en:caused by mutation in the nephrocystin 4 gene (nphp4, 607215.0001)

•

en:caused by mutation in the nephrocystin 3 gene (nphp3, 608002.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 8 gene (ndufs8, 602141.0001)

•

en:caused by mutation in the n-glycanase 1 gene (ngly1, 610661.0001)

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0001)

•

en:caused by mutation in the myelin transcription factor 1-like gene (myt1l, 613084.0001)

•

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

•

en:caused by mutation in the mitochondrial ts translation elongation factor gene (tsfm, 604723.0001)

•

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

•

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

•

en:caused by mutation in the mitochondrial transfer rna, mitochondrial, serine, 1 gene (mtts1, 590080.0002)

•

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

•

en:caused by mutation in the microtubule-associated protein, rp/eb family, member-2 gene (mapre2, 605789.0001)

•

en:caused by mutation in the methionyl-trna synthetase 2 gene (mars2, 609728.0004)

•

en:caused by mutation in the methionine sulfoxide reductase b3 gene (msrb3, 613719.0001)

•

en:caused by mutation in the membrane-bound transcription factor protease, site 2 gene (mbtps2, 300294.0006)

•

en:caused by mutation in the member 5 solute carrier family 39 (zinc transporter) gene (slc39a5, 608730.0001)

•

en:caused by mutation in the mads box transcription enhancer factor 2, polypeptide c gene (mef2c, 600662.0001)

•

en:caused by mutation in the m-phase specific plk1 interacting protein (mplkip, 609188.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein-6 gene (lrp6, 603507.0001)

•

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

•

en:caused by mutation in the lipoxygenase homology domains-containing 1 gene (loxhd1, 613072.0001)

•

en:caused by mutation in the leucine-rich repeat, immunoglobulin-like, and transmembrane domains-containing protein-3 gene (lrit3, 615004.0001)

•

en:caused by mutation in the leptin gene (lep, 164160.0001)

•

en:caused by mutation in the keratin 74 gene (krt74, 608248.0001)

•

en:caused by mutation in the junctophilin-2 gene (jph2, 605267.0001)

•

en:caused by mutation in the iroquois homeobox protein-5 gene (irx5, 606195.0001)

•

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

•

en:caused by mutation in the interferon regulatory factor 8 gene (irf8, 601565.0001)

•

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

•

en:caused by mutation in the inositol monophosphatase domain-containing protein 1 gene (impad1, 614010.0001)

•

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

•

en:caused by mutation in the immunoglobulin-binding protein-1 gene (igbp1, 300139.0001)

•

en:caused by mutation in the hps6 gene (hps6, 607522)

•

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

•

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 homolog of the s. cerevisiae alg11 gene (alg11, 613666.0001)

•

en:caused by mutation in the homolog of the drosophila son of sevenless 2 gene (sos2, 601247.0001)

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 80 gene (ift80, 611177.0001)

•

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 homolog of drosophila twist-2 gene (twist2, 607556.0005)

•

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

•

en:caused by mutation in the histidine triad nucleotide-binding protein 1 gene (hint1, 601314.0001)

•

en:caused by mutation in the hepatic lipase gene (lipc, 151670.0001)

•

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

•

en:caused by mutation in the heat-shock 27-kd protein 3 gene (hspb3, 604624.0001).

•

en:caused by mutation in the g protein-coupled receptor 56 gene (gpr56, 604110.0001)

•

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

•

en:caused by mutation in the glutaredoxin, cysteine-rich, 1 gene (grxcr1, 613283.0001)

•

en:caused by mutation in the gigaxonin gene (gan, 605379.0001)

•

en:caused by mutation in the gdp-mannose pyrophosphorylase b gene (gmppb, 615320.0001)

•

en:caused by mutation in the gata-binding protein-3 gene (gata3, 131320.0001)

•

en:caused by mutation in the gata-binding protein-1 gene (gata1, 305371.0001)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0016)

•

en:caused by mutation in the forkhead box f1 gene (foxf1, 601089.0001)

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0007)

•

en:caused by mutation in the fmr1 gene (fmr1, 309550.0001)

•

en:caused by mutation in the fibroblast growth factor-16 gene (fgf16, 300827.0001)

•

en:caused by mutation in the fibrillin 1 gene (fbn1, 134797.0055)

•

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

•

en:caused by mutation in the endothelin receptor type b gene (ednrb, 131244.0001)

•

en:caused by mutation in the ectodysplasin anhidrotic receptor gene (edar, 604095.0001)

•

en:caused by mutation in the early growth response-2 gene (egr2, 129010.0004)

•

en:caused by mutation in the dystonin gene (dst, 113810.0001)

•

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

•

en:caused by mutation in the drosophila muscle segment homeobox homolog-2 gene (msx2, 123101.0001)

•

en:caused by mutation in the dolichyl-diphosphooligosaccharide-protein glycosyltransferase gene (ddost, 602202.0001)

•

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

•

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

•

en:caused by mutation in the desmocollin 2 gene (dsc2, 125645.0001)

•

en:caused by mutation in the desmin gene (des, 125660.0001)

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0005)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cyclin o gene (ccno, 607752.0001)

•

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

•

en:caused by mutation in the component x gene of the pyruvate dehydrogenase complex (pdhx, 608769.0001)

•

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

•

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

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0001)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 88c gene (ccdc88c, 611204.0004)

•

en:caused by mutation in the coiled-coil and c2 domain-containing 1a gene (cc2d1a, 610055.0001)

•

en:caused by mutation in the cln8 gene (cln8, 607837.0001)

•

en:caused by mutation in the chromosome 11 open reading frame 73 gene (c11orf73, 614908.0001)

•

en:caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (chrng, 100730.0001)

•

en:caused by mutation in the chmp family, member 2b gene (chmp2b, 609512.0003)

•

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

•

en:caused by mutation in the caspase recruitment domain-containing protein-14 gene (card14, 607211.0001)

•

en:caused by mutation in the carnitine palmitoyltransferase ia gene (cpt1a, 600528.0001)

•

en:caused by mutation in the calpastatin gene (cast, 114090.0001)

•

en:caused by mutation in the breast cancer type 1 gene (brca1, 113705.0001)

•

en:caused by mutation in the beta subunit of the 3-methylcrotonyl-coa carboxylase gene (mccc2, 609014.0001)

•

en:caused by mutation in the beta-tubulin gene (tubb, 191130.0001)

•

en:caused by mutation in the beta-sarcoglycan gene (sgcb, 600900.0001)

•

en:caused by mutation in the beta-1,3-glucosyltransferase gene (b3galtl, 610308.0001)

•

en:caused by mutation in the atp synthase 6 gene (mtap6, 516060.0003)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0002)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 11 gene (abcb11, 603201.0002)

•

en:caused by mutation in the aquaporin-2 gene (aqp2, 107777.0001)

•

en:caused by mutation in the anoctamin 5 gene gene (ano5, 608662.0001)

•

en:caused by mutation in the aldolase a, fructose-bisphosphatase gene (aldoa, 103850.0001)

•

en:caused by mutation in the adp-ribosylation factor-like 6 interacting protein 1 gene (arl6ip1, 607669.0001)

•

en:caused by mutation in the adenine phosphoribosyltransferase gene (aprt, 102600.0001)

•

en:caused by mutation in the 5-hydroxytryptamine receptor-1a gene (htr1a, 109760.0001)

•

en:caused by mutation in the 3-beta-hydroxysteroid dehydrogenase-2 gene (hsd3b2, 613890.0001)

•

en:caused by mutation in the 3-@hydroxyisobutyryl-coa hydrolase gene (hibch, 610690.0001)

•

en:caused by mutations in the solute carrier family 16, monocarboxylic acid transporter, member 1 gene (slc16a1, 600682.0001).

•

en:caused by mutations in the pyrin gene (mefv, 608107.0001)

•

en:caused by mutations in the paired-like homeodomain transcription factor-2 gene (pitx2, 601542.0001)

•

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

•

en:caused by mutations in the kindlin 1 gene (kind1, 607900.0001)

•

en:caused by mutations in the indian hedgehog gene (ihh, 600726.0001)

•

en:caused by mutations in the cln8 gene (cln8, 607837.0002)

•

en:caused by mutations in the beta-glucuronidase gene (gusb, 611499.0001)

•

en:caused by mutations in the beta-1 transforming growth factor gene (tgfb1, 190180.0001)

•

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

•

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

•

en:a contiguous gene syndrome caused by deletion of 2.2 to 10.6mb of terminal 1p36

•

en:susceptibility to sle caused by mutation in the receptor for fc fragment of igg, low affinity iia gene (fcgr2a, 146790.0001)

•

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

•

en:susceptibility conferred by mutation in the gamma-aminobutyric acid receptor, delta gene (gabrd, 137163.0001)

•

en:susceptibility conferred by mutation in the complement factor b gene (cfb, 138470.0005)

•

en:susceptibility conferred by mutation in the cocaine- and amphetamine-regulated transcript prepropeptide (cartpt, 602606.0001)

•

en:susceptibility conferred by mutation in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0018)

•

en:dutch, pakistani, and moroccan families have been described

•

en:due to hemizygous deletion of 4p16.3

•

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

•

en:caused by somatic mutation in the v-ki-ras2 kirsten rat sarcoma viral oncogene homolog gene (kras, 190070.0005)

•

en:caused by somatic mutation in the neuroblastoma ras viral (v-ras) oncogene homolog gene (nras, 164790.0002)

•

en:caused by solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 gene (slc24a1, 603617.0001)

•

en:caused by mutation in the zinc finger protein 687 gene (znf687, 610568.0001)

•

en:caused by mutation in the yeast homolog, b, of the vacuolar protein sorting 33 gene (vps33b, 608552.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10a gene (wnt10a, 606268.0001)

•

en:caused by mutation in the wd repeat-containing protein 11 gene (wdr11, 606417.0001)

•

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 vaccinia-related kinase 1 gene (vrk1, 602168.0001)

•

en:caused by mutation in the v-maf musculoaponeurotic fibrosarcoma oncogene family, protein b gene (mafb, 608968.0001)

•

en:caused by mutation in the uroporphyrinogen decarboxylase gene (urod, 176100.0001)

•

en:caused by mutation in the urocanase domain-containing protein 1 gene (uroc1, 613012.0001)

•

en:caused by mutation in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase gene (gne, 603824.0012)

•

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

•

en:caused by mutation in the twinkle gene (c10orf2, 606075.0001)

•

en:caused by mutation in the tumor protein p53 gene (tp53, 191170.0023)

•

en:caused by mutation in the tubulin beta-3 gene (tubb3, 602661.0001)

•

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

•

en:caused by mutation in the transmembrane protein 142a gene (tmem142a, 610277.0001)

•

en:caused by mutation in the transmembrane channel-like protein 1 gene (tmc1, 606706.0001)

•

en:caused by mutation in the transcription factor ap2-alpha gene (tfap2a, 107580.0001)

•

en:caused by mutation in the tho complex, subunit 2 gene (thoc2, 300395.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain 21b gene (ttc21b, 612014.0004)

•

en:caused by mutation in the tachykinin-3 gene (tac3, 162330.0001)

•

en:caused by mutation in the synaptonemal complex protein-3 gene (sycp3, 604759.0001)

•

en:caused by mutation in the sorting nexin 14 gene (snx14, 616105.0001)

•

en:caused by mutation in the solute carrier family 34 (sodium phosphate cotransporter), member 1 gene (slc34a1, 182309.0003)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0019)

•

en:caused by mutation in the solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 gene (cact, 613698.0001)

•

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

•

en:caused by mutation in the skeletal muscle receptor tyrosine kinase gene (musk, 601296.0006)

•

en:caused by mutation in the set-binding protein 1 gene (setbp1, 611060.0006)

•

en:caused by mutation in the semaphorin 4a gene (sema4a, 607292.0001)

•

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

•

en:caused by mutation in the s. cerevisiae homolog of trna splicing endonuclease 54 (tsen54, 608755.0001)

•

en:caused by mutation in the s-antigen gene (sag, 181031.0001)

•

en:caused by mutation in the ripply transcriptional repressor-2 gene (ripply2, 609891.0001)

•

en:caused by mutation in the renin gene (ren, 179820.0004)

•

en:caused by mutation in the recombination signal-binding protein for immunoglobulin kappa j region gene (rbpj, 147183.0001)

•

en:caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (ripk4, 605706.0001)

•

en:caused by mutation in the ras-associated protein rab33b gene (rab33b, 605950.0001)

•

en:caused by mutation in the purinergic receptor p2x, ligand-gated ion channel, 2 gene (p2rx2, 600844.0001)

•

en:caused by mutation in the protocadherin-15 gene (pcdh15, 605514.0006)

•

en:caused by mutation in the proteasome subunit, beta-type, 8 gene (psmb8, 177046.0001)

•

en:caused by mutation in the proline dehydrogenase gene (prodh, 606810.0001)

•

en:caused by mutation in the presynaptic glycine transporter-2 gene (slc6a5, 604159.0001)

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0034)

•

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 potassium channel, inwardly rectifying, subfamily j, member 2 gene (kcnj2, 600681.0001)

•

en:caused by mutation in the piezo-type mechanosensitive ion channel component 2 gene (piezo2, 613629.0001)

•

en:caused by mutation in the phosphoglycerate dehydrogenase gene (phgdh, 606879.0001)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (pik3r1, 171833.0001)

•

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

•

en:caused by mutation in the phosphate regulating endopeptidase homolog, x-linked, gene (phex, 300550.0001)

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-2 gene (pex2, 170993.0001)

•

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

•

en:caused by mutation in the opa1 gene (opa1, 605290.0001)

•

en:caused by mutation in the nucleoporin, 93-kd gene (nup93, 614351.0001)

•

en:caused by mutation in the nucleolar protein family a, member 2 gene (nola2, 606470.0001)

•

en:caused by mutation in the nlr family, caspase recruitment domain-containing 4 gene (nlrc4, 606831.0001)

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex 10 gene (ndufa10, 603835.0001)

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex, assembly factor 1 gene (ndufaf1, 606934.0001)

•

en:caused by mutation in the n-deacetylase/n-sulfotransferase 1 gene (ndst1, 600853.0001)

•

en:caused by mutation in the myotilin gene (ttid, 604103.0001)

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0002)

•

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

•

en:caused by mutation in the muscle glycogen phosphorylase gene (pygm, 608455.0001)

•

en:caused by mutation in the mitochondrion-associated apoptosis-inducing factor 1 gene (aifm1, 300169.0001)

•

en:caused by mutation in the mitochondrial trna-glutamic acid gene (mtte, 590025.0001)

•

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

•

en:caused by mutation in the mitochondrial ribosomal protein s22 gene (mrps22, 605810.0001)

•

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

•

en:caused by mutation in the mitochondrial complex i, subunit nd3 gene (mtnd3, 516002.0004)

•

en:caused by mutation in the mitochondrial aconitase gene (aco2, 100850.0002)

•

en:caused by mutation in the methyltransferase-like 23 gene (mettl23, 615262.0001)

•

en:caused by mutation in the matrix metalloproteinase 21 gene (mmp21, 608416.0001)

•

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

•

en:caused by mutation in the major facilitator superfamily domain-containing protein 2a gene (mfsd2a, 614397.0001)

•

en:caused by mutation in the lysosome associated membrane protein-2 gene (lamp2, 309060.0001)

•

en:caused by mutation in the lyr motif-containing protein 7 gene (lyrm7, 615831.0001)

•

en:caused by mutation in the lymphocyte-specific protein-tyrosine kinase gene (lck, 153390.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein associated protein 1 gene (lrpap1, 104225.0001)

•

en:caused by mutation in the lanosterol synthase gene (lss, 600909.0001)

•

en:caused by mutation in the ketohexokinase gene (khk, 614058.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 11 gene (vps11, 608549.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae vma21 gene (vma21, 300913.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae fig4 gene (fig4, 609390.0001)

•

en:caused by mutation in the homolog of the e. coli elac 2 gene (elac2, 605367.0006)

•

en:caused by mutation in the homolog of the drosophila rogdi gene (rogdi, 614574.0001)

•

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

•

en:caused by mutation in the homolog of drosophila twist-2 gene (twist2, 607556.0004)

•

en:caused by mutation in the homolog of drosophila dachsous-1 gene (dchs1, 603057.0004)

•

en:caused by mutation in the histone deacetylase 6 gene (hdac6, 300272.0001)

•

en:caused by mutation in the histidyl-trna synthetase 2 gene (hars2, 600783.0001)

•

en:caused by mutation in the hereditary hemochromatosis gene (hfe, 613609.0001)

•

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

•

en:caused by mutation in the glycine dehydrogenase gene (gldc, 238300.0001)

•

en:caused by mutation in the gli-kruppel family member 2 gene (gli2, 165230.0001)

•

en:caused by mutation in the gdp-mannose pyrophosphorylase b gene (gmppb, 615320.0004)

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0018)

•

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

•

en:caused by mutation in the gamma-aminobutyric acid receptor, alpha-1 gene (137160.0003)

•

en:caused by mutation in the gamma-aminobutyric acid (gaba) a receptor, gamma-2 gene (gabrg2, 137164.0001)

•

en:caused by mutation in the galactokinase 1 gene (galk1, 604313.0001)

•

en:caused by mutation in the fumarate hydratase gene (fh, 136850.0003)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0004)

•

en:caused by mutation in the fibulin 5 gene (fbln5, 604580.0003)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0001)

•

en:caused by mutation in the fibrillin 1 gene (fbn1, 134797.0001)

•

en:caused by mutation in the fez family zinc finger protein-1 gene (fezf1, 613301.0001)

•

en:caused by mutation in the fancd2/fanci-associated nuclease 1 gene (fan1, 613534.0001)

•

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

•

en:caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (eef1a2, 602959.0002)

•

en:caused by mutation in the enoyl-coenzyme a, hydratase/3-hydroxyacyl coenzyme a dehydrogenase gene (ehhadh, 607037.0001)

•

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

•

en:caused by mutation in the emerin gene (emd, 300384.0001)

•

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

•

en:caused by mutation in the dystrophin-associated glycoprotein-1 gene (dag1, 128239.0004)

•

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

•

en:caused by mutation in the dynamin 1 gene (dnm1, 602377.0001)

•

en:caused by mutation in the dna polymerase gamma-2 gene (polg2, 604983.0001)

•

en:caused by mutation in the dermatan sulfate epimerase gene (dse, 605942.0001)

•

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

•

en:caused by mutation in the delta-like-4 gene (dll4, 605185.0001)

•

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

•

en:caused by mutation in the ddb1- and cul4-associated factor 8 gene (dcaf8, 615820.0001).

•

en:caused by mutation in the cytoskeleton-associated protein 2-like gene (ckap2l, 616174.0001)

•

en:caused by mutation in the cytochrome c oxidase subunit ii gene (mtco2, 516040.0001)

•

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

•

en:caused by mutation in the coronin 1a gene (coro1a, 605000.0001)

•

en:caused by mutation in the complement component 1, q subcomponent, c chain gene (c1qc, 120575.0001)

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0005)

•

en:caused by mutation in the collagen xi, alpha-1 polypeptide gene (col11a1, 120280.0008)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 151 gene (ccdc151, 615956.0001)

•

en:caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (chchd10, 615903.0003)

•

en:caused by mutation in the coagulation factor x gene (f10, 613872.0001).

•

en:caused by mutation in the coagulation factor vii gene (f7, 613878.0001)

•

en:caused by mutation in the chromosome 21 open reading frame 59 gene (c21orf59, 615494.0001)

•

en:caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (chrng, 100730.0002)

•

en:caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (chrnd, 100720.0001)

•

en:caused by mutation in the cd8 antigen, alpha polypeptide gene (cd8a, 186910.0001)

•

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

•

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

•

en:caused by mutation in the carboxyl-ester lipase gene (cel, 114840.0001)

•

en:caused by mutation in the c. elegans mab21 homolog-like 2 gene (mab21l2, 604357.0001)

•

en:caused by mutation in the bmp binding endothelial regulator gene (bmper, 608699.0001)

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0005)

•

en:caused by mutation in the aryl hydrocarbon receptor-interacting protein gene (aip, 605555.0001)

•

en:caused by mutation in the arginase gene (arg1, 207800.0001)

•

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

•

en:caused by mutation in the aminoacylase-1 gene (acy1, 104620.0001).

•

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

•

en:caused by mutation in the alpha-n-acetylgalactosaminidase gene (naga, 104170.0002)

•

en:caused by mutation in the alpha-fetoprotein gene (afp, 104150.0001)

•

en:caused by mutation in the alpha-4a tubulin gene (tuba4a, 191110.0001)

•

en:caused by mutation in the alpha-1 subunit of the thyroid hormone receptor gene (thra, 190120.0001)

•

en:caused by mutation in the adaptor-related protein complex 3, beta-1 subunit gene (ap3b1, 603401.0001)

•

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

•

en:caused by mutation in the aarf domain-containing kinase 3 gene (adck3, 606980.0001)

•

en:caused by mutation in the 300-kd e1a-binding protein gene (ep300, 602700.0003)

•

en:caused by mutation in the 11-beta-hydroxysteroid dehydrogenase, type ii gene (hsd11b2, 614232.0001)

•

en:caused by mutations in the selenoprotein n-1 gene (sepn1, 606210.0001)

•

en:caused by mutations in the mucolipin-1 gene (mcoln1, 605248.0001)

•

en:caused by mutations in the mannosephosphate isomerase gene (mpi, 154550.0001)

•

en:caused by mutations in the low density lipoprotein receptor-related protein-5 gene (lrp5, 603506.0001)

•

en:caused by mutations in the keratin 6b gene (krt6b, 148042.0001)

•

en:caused by mutations in the hexosaminidase a, alpha polypeptide gene (hexa, 272800.0001)

•

en:caused by mutations in the exostosin 1 gene (ext1, 133700.0001)

•

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

•

en:caused by duplication of 72 kb of 5q23.2 including at a minimum the lamin b1 gene (lmnb1, 150340.0001)

•

en:caused by duplication of 186-260kb on 16p13.3

•

en:caused by a ring chromosome 14

•

en:caused by a deletion of chromosome 9p

•

en:caused by a 2.5- to 3.8-kb insertion containing pentanucleotide expansion repeats including (tggaa)n within an intron of the brain-expressed, associated with nedd4 gene (bean, 612051.0001)

•

en:associated with mutation in the p53 tumor protein gene (tp53, 191170.0006)

•

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

•

en:2p21del syndrome is a contiguous gene syndrome caused by 179kb deletion containing the slc3a1 (104614), prepl (609557), ppm1b (603770), and c2orf34 (609559) genes

•

en:immunodeficiency, common variable, 13

•

en:susceptibility conferred by mutation in the uncoupling protein-1 gene (ucp1, 113730.0001)

•

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

•

en:susceptibility conferred by mutation in the breast cancer 1 gene (brca1, 113705.0001)

•

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

•

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

•

en:due to mutation in the retinol-binding protein 4 gene (rbp4, 180250.0001)

•

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:contiguous gene syndrome caused by deletion of 7.1 to 8.7mb of 16p12.2-p11.2

•

en:caused by mutation in the xylosyltransferase-2 gene (xylt2, 608125.0002)

•

en:caused by mutation in the xenotropic and polytropic retrovirus receptor gene (xpr1, 605237.0001)

•

en:caused by mutation in the wd repeat-containing protein-19 (wdr19, 608151.0001)

•

en:caused by mutation in the vps33b-interacting protein, apical-basolateral polarity regulator gene (vipar, 613401.0001)

•

en:caused by mutation in the uroporphyrinogen iii cosynthase gene (uros, 606938.0001)

•

en:caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (ugt1, 191740.0001)

•

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

•

en:caused by mutation in the tyrosyl-trna synthetase gene (yars, 603623.0001)

•

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

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 13c gene (tnfrsf13c, 606269.0001)

•

en:caused by mutation in the tubulin, gamma-1 gene (tubg1, 191135.0001)

•

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

•

en:caused by mutation in the transmembrane protein 67 gene (tmem67, 609884.0001)

•

en:caused by mutation in the transmembrane protein 16e gene (tmem16e, 608662.0003)

•

en:caused by mutation in the transmembrane 43 gene (tmem43, 612048.0002)

•

en:caused by mutation in the transforming growth factor, beta receptor ii, 70-80kd gene (tgfbr2, 190182.0008)

•

en:caused by mutation in the transcription factor-4 gene (tcf4, 602272.0001)

•

en:caused by mutation in the thyroid transcription factor-1 gene (titf1, 600635.0001)

•

en:caused by mutation in the thyroid-stimulating hormone receptor gene (tshr, 603372.0004)

•

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

•

en:caused by mutation in the t7 gene 4-like protein with intramitochondrial nucleoid localization gene (c10orf2, 606075.0012)

•

en:caused by mutation in the syntaxin 16 gene (stx16, 603666.0001)

•

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 suppression of tumorigenicity 14 gene (st14, 606797.0001)

•

en:caused by mutation in the superkiller viralicidic activity 2-like, s. cerevisiae homolog gene (skiv2l, 600478.0001)

•

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 stip1 homologous and u box-containing protein 1 gene (stub1, 607207.0001)

•

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

•

en:caused by mutation in the spatacsin gene (spg11, 610844.0003)

•

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

•

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 35, member d1 gene (slc25d1, 610804.0001)

•

en:caused by mutation in the solute carrier family 30 (zinc transporter), member 10 gene (slc30a10, 611146.0001)

•

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 25 (mitochondrial carrier) member 4 gene (slc25a4, 103220.0001)

•

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 solute carrier family 19, folate transporter, member 3 gene (slc19a3, 606152.0001)

•

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

•

en:caused by mutation in the serologically defined colon cancer antigen 8 gene (sdccag8, 613524.0004)

•

en:caused by mutation in the seipin gene (bscl2, 606158.0013)

•

en:caused by mutation in the scl/tal1-interrupting locus gene (stil, 181590.0001)

•

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

•

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

•

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

•

en:caused by mutation in the rho guanine nucleotide exchange factor-6 gene (300267.0001)

•

en:caused by mutation in the retina and anterior neural fold homeobox gene (rax, 601881.0001)

•

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

•

en:caused by mutation in the recombinase activating gene 2 (rag2, 179616.0003)

•

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

•

en:caused by mutation in the putative protein o-mannosyltransferase 2 gene (pomt2, 607439.0001)

•

en:caused by mutation in the purine-rich element-binding protein a gene (pura, 600473.0001)

•

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

•

en:caused by mutation in the protein s gene (psa, 176880.0002)

•

en:caused by mutation in the protein o-mannose beta-1,2-n-acetylglucosaminyltransferase gene (pomgnt1, 606822.0014)

•

en:caused by mutation in the protein o-mannose beta-1,2-n-acetylglucosaminyltransferase 1 gene (pomgnt1, 606822.0013)

•

en:caused by mutation in the potassium voltage-gated channel, subfamily h, member 2 gene or human ether-a-go-go related gene (kcnh2, 152427.0001)

•

en:caused by mutation in the potassium inwardly-rectifying channel, subfamily j, member 11 gene (kcnj11, 600937.0012)

•

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

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0009)

•

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

•

en:caused by mutation in the phospholipase a2, group vi gene (pla2g6, 603604.0009)

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 5 gene (pik3r5, 611317.0001)

•

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

•

en:caused by mutation in the peptidyl-prolyl isomerase b gene (ppib, 123841.0001)

•

en:caused by mutation in the parathyroid hormone receptor-1 gene (pthr1, 168468.0012)

•

en:caused by mutation in the pancreas transcription factor 1, alpha subunit gene (ptf1a, 607094.0001)

•

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

•

en:caused by mutation in the nonselective sodium leak channel gene (nalcn, 611549.0001)

•

en:caused by mutation in the nlr family, pyrin-domain containing 3 gene (nlrp3, 606416.0004)

•

en:caused by mutation in the neutrophil cytosolic factor 4 gene (ncf4, 601488.0001)

•

en:caused by mutation in the nata catalytic subunit of n-alpha-acetyltransferase-10 gene (naa10, 300013.0002)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) flavoprotein 2 gene (ndufv2, 600532.0001)

•

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

•

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

•

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

•

en:caused by mutation in the myeloid/lymphoid or mixed lineage leukemia gene (mll, 159555.0001)

•

en:caused by mutation in the mothers against decapentaplegic, drosophila, homolog of, 6 gene (smad6, 602931.0001)

•

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

•

en:caused by mutation in the minichromosome maintenance complex component-8 gene (mcm8, 608187.0001)

•

en:caused by mutation in the micro rna 17 host gene (mir17hg, 609415)

•

en:caused by mutation in the mer tyrosine kinase protooncogene (mertk, 604705.0001)

•

en:caused by mutation in the membrane-spanning 4 domains, subfamily a, member 1 gene (ms4a1, 112210.0001)

•

en:caused by mutation in the makorin-3 gene (mkrn3, 603856.0001)

•

en:caused by mutation in the magnesium-dependent protein phosphatase 2c gene (ppm2c, 605993.0001).

•

en:caused by mutation in the lipopolysaccharide-induced tumor necrosis factor-alpha factor gene (litaf, 603795.0001)

•

en:caused by mutation in the la ribonucleoprotein domain family, member 7 gene (larp7, 612026.0001)

•

en:caused by mutation in the l-arginine:glycine amidinotransferase gene (gatm, 602360.0001)

•

en:caused by mutation in the kizuna centrosomal protein gene (kiz, 615757.0001)

•

en:caused by mutation in the kiss1 metastasis suppressor gene (kiss1, 603286.0001)

•

en:caused by mutation in the kiaa2022 gene (300524.0001)

•

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

•

en:caused by mutation in the keratin-6c gene (krt6c, 612315.0001)

•

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

•

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

•

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

•

en:caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (inpp5e, 613037.0002).

•

en:caused by mutation in the il2-inducible t-cell kinase gene (itk, 186973.0001)

•

en:caused by mutation in the hypoxanthine phosphoribosyltransferase gene (hprt1, 308000.0001)

•

en:caused by mutation in the human homolog of the mouse noggin gene (nog, 602991.0012)

•

en:caused by mutation in the human homolog of the drosophila suppressor of fused gene (sufu, 607035.0003)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae fig4 gene (fig4, 609390.0016)

•

en:caused by mutation in the homolog of the mouse seizure threshold 2 gene (szt2, 615463.0001)

•

en:caused by mutation in the homolog of the mouse noggin gene (nog, 602991.0001)

•

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

•

en:caused by mutation in the homolog of the e. coli dnaj subfamily c member 19 gene (dnajc19, 608977.0001)

•

en:caused by mutation in the homolog of the drosophila notch gene 3 (notch3, 600276.0013)

•

en:caused by mutation in the homolog of the drosophila aristaless homeobox gene (arix, 602753.0001)

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 140 gene (ift140, 614620.0001)

•

en:caused by mutation in the homolog of s. cerevisiae fig4 gene (fig4, 609390.0009)

•

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

•

en:caused by mutation in the high-mobility group box 3 gene (hmgb3, 300193.0001)

•

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

•

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

•

en:caused by mutation in the growth/differentiation factor-5 gene (gdf5, 601146.0013)

•

en:caused by mutation in the gli-kruppel family member gli3 gene (gli3, 165240.0004)

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0004)

•

en:caused by mutation in the gaip c-terminus-interacting protein 3 (gipc3, 608792.0001)

•

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

•

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

•

en:caused by mutation in the forkhead box p3 gene (foxp3, 300292.0001)

•

en:caused by mutation in the fibronectin-like domain-containing leucine-rich transmembrane protein 3 gene (flrt3, 604808.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 2 gene (fgfr2, 176943.0035)

•

en:caused by mutation in the fibroblast growth factor receptor 1 gene (fgfr1, 136350.0030)

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0007)

•

en:caused by mutation in the f-box only protein 38 gene (fbxo38, 608533.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 6 gene (ercc6, 609413.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 3 (eif2ak3, 604032.0001)

•

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

•

en:caused by mutation in the establishment of cohesion 1 homolog 2 gene (esco2, 609353.0001)

•

en:caused by mutation in the enamelin gene (enam, 606585.0001)

•

en:caused by mutation in the emopamil-binding protein gene (ebp, 300205.0001)

•

en:caused by mutation in the ectonucleoside triphosphate diphosphohydrolase 1 gene (entpd1, 601752.0001)

•

en:caused by mutation in the dynamin-2 gene (dnm2, 602378.0004).

•

en:caused by mutation in the dual oxidase maturation factor 2 gene (duoxa2, 612772.0001)

•

en:caused by mutation in the dopamine beta-hydroxylase gene (dbh, 609312.0002)

•

en:caused by mutation in the dna polymerase-gamma gene (polg, 174763.0006)

•

en:caused by mutation in the dna ligase-4 gene (lig4, 601837.0007)

•

en:caused by mutation in the dihydrolipoamide dehydrogenase gene (dld, 238331.0001)

•

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

•

en:caused by mutation in the delta-1 phospholipase c gene (plcd1, 602142.0001)

•

en:caused by mutation in the decorin gene (dcn, 125255.0001)

•

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

•

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

•

en:caused by mutation in the cullin 3 gene (cul3, 603136.0001)

•

en:caused by mutation in the coxsackievirus- and adenovirus receptor-like membrane protein gene (clmp, 611693.0001)

•

en:caused by mutation in the complex i, subunit nd4l gene (mtnd4l, 516004.0002)

•

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

•

en:caused by mutation in the collagen type ii alpha-1 gene (col2a1, 120140.0043)

•

en:caused by mutation in the collagen iv, alpha-1 polypeptide gene (col4a1, 120130.0003)

•

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

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0007)

•

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

•

en:caused by mutation in the choline acetyltransferase gene (chat, 118490.0001)

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, beta polypeptide 1 gene (chrnb1, 100710.0003)

•

en:caused by mutation in the centromeric protein j gene (cenpj, 609279.0001)

•

en:caused by mutation in the cd81 antigen gene (cd81, 186845.0001)

•

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

•

en:caused by mutation in the cas-br-m murine ecotropic retroviral transforming sequence homolog gene (cbl, 165360.0001)

•

en:caused by mutation in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0009)

•

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

•

en:caused by mutation in the camp-specific phosphodiesterase 4d gene (pde4d, 600129.0001)

•

en:caused by mutation in the calcium/calmodulin-dependent serine protein kinase gene (cask, 300172.0001)

•

en:caused by mutation in the c2 calcium-dependent domain-containing protein 3 gene (c2cd3, 615944.0001)

•

en:caused by mutation in the b homolog of s. cerevisiae sec23 gene (sec23b, 610512.0007)

•

en:caused by mutation in the bone morphogenetic receptor, type ii gene (bmpr2, 600799.0001)

•

en:caused by mutation in the bone morphogenetic protein 4 (bmp4, 112262.0001)

•

en:caused by mutation in the blood vessel epicardial substance gene (bves, 604577.0001)

•

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

•

en:caused by mutation in the beta-1,4-galactosyltransferase gene (b4galt1, 137060.0001).

•

en:caused by mutation in the atpase, na+k+ transporting, alpha-3 polypeptide gene (atp1a3, 182350.0009)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 9 gene (abcc9, 601439.0004)

•

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

•

en:caused by mutation in the antithrombin iii gene (at3, 107300.0001)

•

en:caused by mutation in the ankyrin repeat- and lem domain-containing protein 2 gene (ankle2, 616062.0001)

•

en:caused by mutation in the angiotensin ii receptor type 1 gene (agtr1, 106165.0003)

•

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

•

en:caused by mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (gnas1, 139320.0011)

•

en:caused by mutation in the alpha-mannosidase gene (man2b1, 609458.0001)

•

en:caused by mutation in the alpha-dystrobrevin gene (dtna, 601239.0001)

•

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

•

en:caused by mutation in the alpha-3 catenin gene (ctnna3, 607667.0001)

•

en:caused by mutation in the alanyl-trna synthetase 2 gene (aars2, 612035.0001)

•

en:caused by mutation in the af4/fmr2 family, member 2 gene (aff2, 300806.0001)

•

en:caused by mutation in the adenosine kinase gene (adk, 102750.0001)

•

en:caused by mutation in the abnormal spindle-like, microcephaly-associated gene (aspm, 605481.0001)

•

en:caused by mutation in the aarf domain-containing kinase 4 gene (adck4, 615567.0001)

•

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

•

en:caused by mutation in the 1,4,5-triphosphate receptor, type 2 gene (itpr2, 600144.0001)

•

en:caused by mutation in paired box gene-1 (pax1, 167411.0001)

•

en:caused by mutation in myosin, heavy chain 9, non-muscle gene (myh9, 160775.0001)

•

en:caused by mutation in homolog of the c. elegans suppressor of clear gene (shoc2, 602775.0001)

•

en:caused by mutation in galactose-1-phosphate uridyltransferase gene (galt, 230400.0001)

•

en:caused by mutation in alkaline phosphatase gene (alpl, 171760.0003)

•

en:caused by mutations in the wilms tumor 1 gene (wt1, 607102.0021)

•

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

•

en:caused by mutations in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase gene (gne, 603824.0001)

•

en:caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (slc4a4, 603345.0001)

•

en:caused by mutations in the recombinase activating gene 1 (rag1, 179615.0001)

•

en:caused by mutations in the holocarbyoxylase synthetase gene (hlcs, 253270.0001)

•

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

•

en:caused by mutations in the follicle-stimulating hormone receptor gene (fshr, 136435.0008)

•

en:caused by mutations in the flj90130 gene (flj90130, 607461.0001)

•

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

•

en:caused by mutations in homolog 3 of the drosophila 'roundabout' gene (robo3, 608630.0001)

•

en:caused by deletion of 1.0-2.5mb on chromosome 17q12

•

en:caused by contiguous gene duplication of 3.2 to 19.8 mb on chromosome 17p12-p11.2

•

en:caused by a trinucleotide repeat expansion cag(n) in the junctophilin-3 gene (jph3, 605268.0001)

•

en:a contiguous gene syndrome caused by deletion of the alpha-1 hemoglobin (141800) and alpha-2 hemoglobin (141850) genes

•

en:a contiguous gene deletion syndrome caused by deletion (5.8 mb) of chromosome 15q26-qter encompassing the igf1r gene (147370)

•

en:translocation 21, 3.3%

•

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

•

en:susceptibility conferred by mutation in the proopiomelanocortin gene (pomc, 176830.0001)

•

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

•

en:susceptibility conferred by mutation in the inwardly rectifying potassium channel, subfamily j, member 18 gene (kcnj18, 613236.0001)

•

en:susceptibility conferred by mutation in the homolog of the mouse agouti gene (agrp, 602311.0001)

•

en:susceptibility conferred by 9-snp haplotype in malic enzyme 2 (me2, 154270.0001)

•

en:cause by mutation in the anthrax toxin receptor 1 gene (antxr1, 606410.0002)

•

en:caused by simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1b1 gene (slco1b1, 604843.0001) and the solute carrier organic anion transporter family, member 1b3 gene (slco1b3, 605495.0001)

•

en:caused by mutation in the zinc finger e box-binding homeobox 2 gene (zeb2, 605802.0001)

•

en:caused by mutation in the zinc finger and btb domain containing 18 gene (zbtb18, 608433.0001)

•

en:caused by mutation in the x-linked small muscle protein gene (smpx, 300226.0001)

•

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

•

en:caused by mutation in the v-ha-ras harvey rat sarcoma viral oncogene homolog gene (hras, 190020.0001)

•

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

•

en:caused by mutation in the tubulin-specific chaperone e gene (tcbe, 604934.0001)

•

en:caused by mutation in the troponin t3, fast skeletal muscle gene (tnnt3, 600692.0001)

•

en:caused by mutation in the transmembrane protein 237 (tmem237, 614423.0001)

•

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

•

en:caused by mutation in the transforming growth factor, beta receptor i, 53kd gene (tgfbr1, 190181.0001)

•

en:caused by mutation in the titin gene (ttn, 188840.0012)

•

en:caused by mutation in the telomerase rna component gene (terc, 602322.0004)

•

en:caused by mutation in the syntaxin 1b gene (stx1b, 601485.0001)

•

en:caused by mutation in the succinate dehydrogenase complex subunit b gene (sdhb, 185470.0001)

•

en:caused by mutation in the succinate dehydrogenase complex assembly factor-2 gene (sdhaf2, 613019.0001)

•

en:caused by mutation in the succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 600857.0005)

•

en:caused by mutation in the sterile alpha motif domain-containing protein-9 gene (samd9, 610456.0001).

•

en:caused by mutation in the sprouty-related evh1 domain-containing protein 1 gene (spred1, 609291.0001)

•

en:caused by mutation in the spatacsin gene (spg11, 610844.0001)

•

en:caused by mutation in the solute carrier family 25, member 38 gene (slc25a38, 610819.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha subunit gene (scn5a, 600163.0004)

•

en:caused by mutation in the sodium channel, voltage-gated, type iv, alpha subunit gene (scn4a, 603967.0018)

•

en:caused by mutation in the small nuclear ribonucleoprotein polypeptide e gene (snrpe, 128160.0001)

•

en:caused by mutation in the sh3 and px domains-containing protein 2b gene (sh3pxd2b, 613293.0001)

•

en:caused by mutation in the set domain-containing protein 5 gene (setd5, 615743.0001)

•

en:caused by mutation in the seryl-trna synthetase 2 gene (sars2, 612804.0001)

•

en:caused by mutation in the sec24-related gene family, member d gene (sec24d, 607186.0001)

•

en:caused by mutation in the scavenger decapping enzyme gene (dcps, 610534.0001)

•

en:caused by mutation in the runt-related transcription factor 1 gene (runx1, 151385.0001)

•

en:caused by mutation in the rna-binding motif protein-20 gene (rbm20, 613171.0001)

•

en:caused by mutation in the rar-related orphan receptor c gene (rorc, 602943.0001)

•

en:caused by mutation in the rab3 gtpase-activating protein (noncatalytic) subunit 2 gene (rab3gap2, 609275.0002)

•

en:caused by mutation in the pyrroline-5-carboxylate reductase 2 gene (pycr2, 616406.0001)

•

en:caused by mutation in the purine nucleoside phosphorylase gene (pnp, 164050.0001)

•

en:caused by mutation in the pr domain-containing protein 8 gene (prdm8, 616639.0001)

•

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

•

en:caused by mutation in the prokineticin receptor-2 gene (prokr2, 607123.0001)

•

en:caused by mutation in the prodynorphin gene (pdyn, 131340.0001)

•

en:caused by mutation in the prenyl diphosphate synthase, subunit 2 gene (pdss2, 610564.0001)

•

en:caused by mutation in the potassium channel tetramerization domain-containing 1 (kctd1, 613420.0001)

•

en:caused by mutation in the potassium channel, voltage-gated, subfamily v, member 2 gene (kcnv2, 607604.0001)

•

en:caused by mutation in the post-gpi attachment to proteins 2 gene (pgap2, 615187.0001)

•

en:caused by mutation in the polyglutamine-binding protein-1 gene (pqbp1, 300463.0001)

•

en:caused by mutation in the polycystin 1 gene (pkd1, 601313.0001)

•

en:caused by mutation in the podocin gene (nphs2, 604766.0001)

•

en:caused by mutation in the platelet-derived growth factor receptor, beta, gene (pdgfrb, 173410.0003)

•

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

•

en:caused by mutation in the phosphodiesterase-6c, cgmp-specific, cone, alpha prime gene (pde6c, 600827.0001)

•

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

•

en:caused by mutation in the peroxisome biogenesis factor 5 gene (pex5, 600414.0003)

•

en:caused by mutation in the peroxisome biogenesis factor-6 gene (pex6, 601498.0003)

•

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

•

en:caused by mutation in the pericentrin 2 gene (pcnt2, 605925.0004)

•

en:caused by mutation in the olfactory receptor, family 2, subfamily j, member 3 gene (or2j3, 615016.0001)

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 gene (nsd1, 606681.0001)

•

en:caused by mutation in the nonmuscle myosin heavy chain 14 gene (myh14, 608568.0006)

•

en:caused by mutation in the nonerythrocytic beta 2 spectrin gene (sptbn2, 604985.0001)

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0004)

•

en:caused by mutation in the neuroblastoma-amplified sequence gene (nbas, 608025.0002)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 2 gene (ndufs2, 602985.0001)

•

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

•

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

•

en:caused by mutation in the myosin iiia gene (myo3a, 606808.0001)

•

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

•

en:caused by mutation in the mitochondrial trna (leucine)-1 gene (mttl1, 590050.0011)

•

en:caused by mutation in the mitochondrial ribosomal protein l44 gene (mrpl44, 611849.0001)

•

en:caused by mutation in the microphthalmia-associated transcription factor gene (mitf, 156845.0006)

•

en:caused by mutation in the microfibrillar-associated protein-5 gene (mfap5, 601103.0001)

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0001)

•

en:caused by mutation in the melanophilin gene (mlph, 606526.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0001)

•

en:caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (lztr1, 600574.0007)

•

en:caused by mutation in the l-2-hydroxyglutarate dehydrogenase gene (l2hgdh, 609584.0001)

•

en:caused by mutation in the kinesin light chain 2 gene (klc2, 611729.0001)

•

en:caused by mutation in the kidney chloride channel b gene (clcnkb, 602023.0001)

•

en:caused by mutation in the kiaa0415 gene (kiaa0415, 613653.0001)

•

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

•

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

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0014)

•

en:caused by mutation in the kat8 regulatory nsl complex subunit 1 gene (kansl1, 612452.0001)

•

en:caused by mutation in the interleukin 7 receptor gene (il7r, 146661.0001)

•

en:caused by mutation in the interferon-induced helicase c domain-containing protein 1 gene (ifih1, 606951.0001)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (itpr1, 147265.0003)

•

en:caused by mutation in the immunoglobulin superfamily, member 1 gene (igsf1, 300137.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 35 gene (vps35, 601501.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae sco1 gene (sco1, 603644.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae iba57 gene (iba57, 615316.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae brf1 gene (brf1, 604902.0001)

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 120435.0006)

•

en:caused by mutation in the homolog of the drosophila atonal 7 gene (atoh7, 609875.0001)

•

en:caused by mutation in the homolog of chlamydomonas intraflagellar transport-172 gene (ift172, 607386.0013)

•

en:caused by mutation in the homeobox a2 gene (hoxa2, 604685.0001)

•

en:caused by mutation in the heterogeneous nuclear ribonucleoprotein d-like protein gene (hnrnpdl, 607137.0001)

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide o gene (gnao1, 139311.0001)

•

en:caused by mutation in the gnas complex locus, antisense transcript (gnasas, 610540.0001)

•

en:caused by mutation in the glutaredoxin 5 gene (glrx5, 609588.0004)

•

en:caused by mutation in the fukutin gene (fktn, 607440.0001)

•

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

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0008)

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0001)

•

en:caused by mutation in the fibroblast growth factor 23 gene (fgf23, 605380.0003)

•

en:caused by mutation in the family with sequence similarity 20, member c gene (fam20c, 611061.0001)

•

en:caused by mutation in the eyes absent-1 gene (eya1, 601653.0001)

•

en:caused by mutation in the eukaryotic translation elongation factor-2 gene (eef2, 130610.0001)

•

en:caused by mutation in the endothelin receptor type a gene (ednra, 131243.0002)

•

en:caused by mutation in the emopamil-binding protein gene (ebp, 300205.0013)

•

en:caused by mutation in the embryonic skeletal muscle heavy chain-3 myosin gene (myh3, 160270.0009)

•

en:caused by mutation in the dystonin gene (dst, 113810.0002)

•

en:caused by mutation in the dynactin-1 gene (dctn1, 601143.0001)

•

en:caused by mutation in the dj1 gene (602533.0001)

•

en:caused by mutation in the dishevelled 1 gene (dvl, 601365.0001)

•

en:caused by mutation in the dihydropyrimidine dehydrogenase gene (dpyd, 612779.0001).

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9089218 • caches: c1=6 c2=1002 c3=1

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