Diko : en:caused by mutation in the multiple pdz domain protein gene (mpdz, 603785.0001)

(id=8234269)

en:caused by mutation in the multiple pdz domain protein gene (mpdz, 603785.0001)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3808842

Associations d'idées

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1000

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

•

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

•

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

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0001)

•

en:caused by mutation in the protease inhibitor 12 gene (pi12, 602445.0001).

•

en:caused by mutation in the norrin gene (ndp, 300658.0001)

•

en:caused by mutation in the fibulin 5 gene (fbln5, 604580.0001)

•

en:caused by mutation in the drosophila homolog of the mothers against decapentaplegic, 4 gene (smad4, 600993.0015)

•

en:caused by mutation in the beta-1-galactosidase gene (glb, 230500.0003)

•

en:caused by mutation in homolog of the c. elegans suppressor of clear gene (shoc2, 602775.0001)

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 4 gene (wnt4, 603490.0001)

•

en:caused by mutation in the tolloid-like 1 gene (tll1, 606742.0001)

•

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

•

en:caused by mutation in the speg complex locus gene (speg, 615950.0001)

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier) member 4 gene (slc25a4, 103220.0001)

•

en:caused by mutation in the serpin peptidase inhibitor, clade e, member 1 gene (serpine1, 173360.0001)

•

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

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0004)

•

en:caused by mutation in the myosin heavy chain 11 gene (myh11, 160745.0001)

•

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

•

en:caused by mutation in the immediate-early response 3-interacting protein 1 (ier3ip1, 609382.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the brca2 gene (brca2, 600185.0027)

•

en:caused by mutation in the beta-2-microglobulin gene (b2m, 109700.0001)

•

en:caused by mutation in the alanyl-trna synthetase 2 gene (aars2, 612035.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605921.0004)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial citrate transporter), member 1 gene (slc25a1, 190315.0001)

•

en:caused by mutation in the signal sequence receptor, delta gene (ssr4, 300090.0001)

•

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

•

en:caused by mutation in the ras and rab interactor 2 gene (rin2, 610222.0001)

•

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

•

en:caused by mutation in the potassium channel, inwardly rectifying, subfamily j, member 2 gene (kcnj2, 600681.0001)

•

en:caused by mutation in the keratin 10 gene (krt10, 148080.0014)

•

en:caused by mutation in the homolog of the mouse peripherin 2 gene (prph2, 179605.0021)

•

en:caused by mutation in the homeo box-a11 gene (hoxa11, 142958.0001)

•

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

•

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

•

en:caused by mutation in the fas antigen gene (fas, 134637.0001)

•

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

•

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

•

en:caused by mutation in the claudin 16 gene (cldn16, 603959.0001)

•

en:caused by mutation in the cd59 antigen gene (cd59, 107271.0001)

•

en:caused by mutations in the mitochondrial atp synthase 6 gene (mtatp6, 516060.0001)

•

en:susceptibility conferred by mutation in the homolog of the drosophila bicaudal c gene (bicc1, 614295.0001)

•

en:caused by mutation in the transthyretin gene (ttr, 176300.0001)

•

en:caused by mutation in the tetratricopeptide repeat domain 37 gene (ttc37, 614589.0001)

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0023)

•

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

•

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

•

en:caused by mutation in the nol1/nop2/sun domain family, member 2 gene nsun2 (610916.0001)

•

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

•

en:caused by mutation in the jumonji, at-rich interactive domain 1c gene gene (jarid1c, 314690.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 5 gene (eif2b5, 603945.0001)

•

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

•

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

•

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

•

en:caused by mutations in the coagulation factor viii gene (f8, 306700.0001)

•

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

•

en:caused by mutation in the protein o-mannosyltransferase-1 gene (pomt1, 607423.0005)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of drosophila odz-3 gene (odz3, 610083.0001)

•

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

•

en:caused by mutation in the complement component 4a gene (c4a, 120810.0001)

•

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

•

en:caused by mutation in the chloride channel-2 gene (clcn2, 600570.0001)

•

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

•

en:caused by deletion of 3.7mb on chromosome 6q13-q14

•

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

•

en:contiguous gene syndrome caused by deletion (minimum 1.3mb) of chromosome 6pter-p24

•

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

•

en:caused by somatic mosaic mutation in the guanine nucleotide-binding protein q gene (gnaq, 600998.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha subunit gene (scn5a, 600163.0033)

•

en:caused by mutation in the phosphoglycerate kinase 1 gene (pgk1, 311800.0002).

•

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

•

en:caused by mutation in the mitochondrial trna (leucine)-1 gene (mttl1, 590050.0011)

•

en:caused by mutation in the mitochondrial trna-lysine gene (mttk, 590060.0005)

•

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

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0001)

•

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

•

en:caused by mutation in the histidine ammonia lyase gene (hal, 609457.0001)

•

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

•

en:caused by mutation in the family with sequence similarity 111, member a, gene (fam111a, 615292.0002)

•

en:caused by mutation in the dfna5 gene (608798.0001)

•

en:caused by mutation in the cyclin-dependent kinase 6 gene (cdk6, 603368.0001)

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, v0 subunit a2 gene (atp6v0a2, 611716.0003)

•

en:caused by mutation in the atpase, cu(2+)-transporting, alpha polypeptide (atp7a, 300011.0015)

•

en:caused by mutation in the abhydrolase domain containing-5 gene (abhd5, 604780.0001)

•

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

•

en:caused by mutations in the ryanodine receptor 1 gene (ryr1, 180901.0003)

•

en:caused by deletion of 1.0-2.5mb on chromosome 17q12

•

en:susceptibility conferred by somatic mutation in the sh2b adaptor protein 3 (sh2b3, 605093.0001)

•

en:caused by mutation in the receptor expression-enhancing protein 1 gene (reep1, 609139.0006)

•

en:caused by mutation in the phenylalanine hydroxylase gene (pah, 261600.0001)

•

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

•

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

•

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

•

en:caused by mutation in the eyes absent-1 gene (eya1, 601653.0001)

•

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

•

en:caused by mutation in the dual-specificity tyrosine phosphorylation-regulated kinase 1b gene (dyrk1b, 604556.0001)

•

en:caused by mutation in the chromosome 12 open reading frame 65 gene (c12orf65, 613541.0003)

•

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

•

en:caused by mutation in the tyrosyl-trna synthetase 2 gene (yars2, 610957.0001)

•

en:caused by mutation in the transmembrane protein 216 gene (tmem216, 613277.0001)

•

en:caused by mutation in the midline 2 gene (mid2, 300204.0001)

•

en:caused by mutation in the krupple-like factor 1 gene (klf1, 600599.0006)

•

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

•

en:caused by mutation in the kinesin-5a gene (kif5a, 602821.0001)

•

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

•

en:caused by mutation in the htra serine peptidase 1 gene (htra1, 602194.0002)

•

en:caused by mutation in the homolog of drosophila mindbomb-1 gene (mib1, 608677.0001)

•

en:caused by mutation in the dyskerin gene (dkc1, 300126.0001)

•

en:caused by mutation in the disintegrin and metalloproteinase domain 17 gene (adam17, 603639.0001)

•

en:caused by mutation in the controller of the opn1lw and opn1mw genes (300824)

•

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

•

en:susceptibility to sle caused by mutation in the tumor necrosis factor ligand superfamily, member 6 gene (tnfsf6, 134638.0001)

•

en:caused by mutation in the solute carrier family 33 (acetyl-coa transporter), member 1 gene (slc33a1, 603690.0001).

•

en:caused by mutation in the solute carrier family 22, member 1-like gene (slc22a1l, 602631.0001)

•

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

•

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

•

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

•

en:caused by mutation in the mmab gene (mmab, 607568.0001)

•

en:caused by mutation in the junctional adhesion molecule 3 gene (jam3, 606871.0001)

•

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

•

en:caused by mutation in the desmocollin 3 gene (dsc3, 600271.0001)

•

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

•

en:caused by mutation in the atpase, class i, type 8b, member 1 gene (atp8b1, 602397.0010)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0016)

•

en:caused by mutation in the actin, alpha, cardiac muscle gene (actc1, 102540.0001)

•

en:caused by mutations in the synaptosomal-associated protein 29kd gene (snap29, 604202.0001)

•

en:caused by mutation in the troponin t3, fast skeletal muscle gene (tnnt3, 600692.0001)

•

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

•

en:caused by mutation in the rhodopsin gene (rho, 180380.0001)

•

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

•

en:caused by mutation in the kat8 regulatory nsl complex subunit 1 gene (kansl1, 612452.0001)

•

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

•

en:caused by mutation in the hepatocyte nuclear factor-1-beta gene (tcf2, 189907.0001)

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (chrnd, 100720.0005)

•

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

•

en:contiguous gene syndrome caused by mosaicism for tetrasomy of chromosome 12p

•

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

•

en:caused by mutation in the ubiquitin carboxyl-terminal esterase l1 gene (uchl1, 191342.0003)

•

en:caused by mutation in the thap domain-containing protein 1 gene (thap1, 609520.0001)

•

en:caused by mutation in the rna, u4, small nuclear, at-ac form gene (rnu4atac, 601428.0001)

•

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

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 2 gene (pnpla2, 609059.0001)

•

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

•

en:caused by mutation in the kiaa1279 gene (kiaa1279, 609367.0001)

•

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

•

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

•

en:caused by mutation in the endoplasmic reticulum lipid raft-associated protein 2 gene (erlin2, 611605.0001)

•

en:caused by mutation in the calcium channel, voltage-dependent, p/q type, alpha 1a subunit gene (cacna1a, 601011.0005)

•

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

•

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

•

en:caused by mutations in the cystinosin gene (ctns, 219800.0009)

•

en:a contiguous gene syndrome caused by deletion of the alpha-1 hemoglobin (141800) and alpha-2 hemoglobin (141850) genes

•

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

•

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

•

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

•

en:caused by mutation in the monocarboxylate transporter 8 gene (mct8, 300095.0001)

•

en:caused by mutation in the inversin gene (invs, 243305.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae sco2 gene (sco2, 604272.0001)

•

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

•

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

•

en:caused by mutation in the forkhead transcription factor foxl2 gene (foxl2, 605597.0001)

•

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

•

en:caused by mutation in the collagen iii, alpha-1 polypeptide gene (col3a1, 120180.0001)

•

en:caused by mutation in the cbp/p300-interacting transactivator, with glu/asp-rich c-terminal domain, 2 gene (cited2, 602937.0001)

•

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

•

en:caused by mutation in the voltage-gated potassium channel, subfamily h, member 1 gene (kcnh1, 603305.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 17 (sodium phosphate cotransporter), member 3 gene (slc17a3, 611034.0001)

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0004)

•

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

•

en:caused by mutation in the glyceronephosphate o-acyltransferase gene (gnpat, 602744.0001)

•

en:caused by mutation in the folliculin gene (flcn, 607273.0009)

•

en:caused by mutation in the fibroblast growth factor 5 gene (fgf5, 165190.0001)

•

en:caused by mutation in the ddhd domain-containing protein 2 gene (ddhd2, 615003.0001)

•

en:caused by mutation in the beta-2b tubulin gene (tubb2b, 612850.0001)

•

en:caused by mutation in the b-cell adhesion molecule gene (bcam, 612773.0001)

•

en:caused by mutation in alkaline phosphatase gene (alpl, 171760.0003)

•

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

•

en:caused by a trinucleotide repeat expansion (ctg)n in the ataxin 8 opposite strand gene (atxn8os, 603680.0001)

•

en:caused by mutation in the pr-domain containing protein-5 gene (prdm5, 614161.0001)

•

en:caused by mutation in the phosphoserine aminotransferase-1 gene (psat1, 610936.0001)

•

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

•

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

•

en:caused by mutation in the ofd1 gene (ofd1, 300170.0011)

•

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

•

en:caused by mutation in the keratin-13 gene (krt13, 148065.0001)

•

en:caused by mutation in the interferon-induced transmembrane protein 5 gene (ifitm5, 614757.0001)

•

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

•

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

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0001)

•

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

•

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

•

en:caused by mutation in the centromeric protein e gene (cenpe, 117143.0001)

•

en:caused by mutation in the beta-ureidopropionase gene (upb1, 606673.0001)

•

en:caused by mutation in the atpase family gene 3-like 2 gene (afg3l2, 604581.0010)

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, beta polypeptide, 58kd gene (atp6b1, 192132.0001)

•

en:caused by mutation in the atpase, class i, type 8b, member 1 gene (atp8b1, 602397.0006)

•

en:caused by mutation in the 45-kd receptor-associated protein of the synapse (rapsyn, 601592.0001)

•

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

•

en:susceptibility conferred by somatic mutation in the homolog of the myeloproliferative leukemia virus gene (mpl, 159530.0011)

•

en:susceptibility conferred by mutation in the toll-like receptor-2 gene (tlr2, 603028.0001)

•

en:susceptibility conferred by mutation in the cd46 antigen gene (cd46, 120920.0001)

•

en:resistance conferred by mutation in the potassium large conductance calcium-activated channel, subfamily m, beta member 1 gene (kcnmb1, 603951.0001)

•

en:microdeletion of 15q11 in 70% of patients confirmed by fluorescent in situ hybridization

•

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

•

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 by triplication of the alpha-synuclein gene (snca, 163890.0003)

•

en:caused by somatic mutation in the v-akt murine thymoma viral oncogene homolog 1 gene (akt1, 164730.0001)

•

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 x-linked aristaless-related homeobox gene (arx, 300382.0015)

•

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

•

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

•

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

•

en:caused by mutation in the was gene (was, 300392.0012)

•

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

•

en:caused by mutation in the voltage-dependent p/q type calcium channel alpha-1a subunit gene (cacna1a, 601011.0001)

•

en:caused by mutation in the very low density lipoprotein receptor (vldlr, 192977.0001)

•

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 ush3a gene (ush3a, 606397.0001)

•

en:caused by mutation in the tropomyosin 2 gene (tpm2, 190990.0002)

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0030)

•

en:caused by mutation in the traf3-interacting protein-2 gene (traf3ip2, 607043.0002)

•

en:caused by mutation in the thyroid transcription factor 1 gene (titf1, 600635.0005)

•

en:caused by mutation in the thioredoxin-like 4a gene (txnl4a, 611595.0001)

•

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

•

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

•

en:caused by mutation in the telomerase rna component gene (terc, 602322.0004)

•

en:caused by mutation in the tbc1 domain family, member 7 gene (tbc1d7, 612655.0001)

•

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 11 gene (stx11, 605014.0001)

•

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

•

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 survival of motor neuron 1 gene (smn1, 600354.0001)

•

en:caused by mutation in the sry-box 18 gene (sox18, 601618.0001)

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0006)

•

en:caused by mutation in the sonic hedgehog gene (shh, 600725.0014)

•

en:caused by mutation in the solute carrier family 46 (folate transporter), member 1 gene (slc46a1, 611672.0001)

•

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 16, member 1 gene (slc16a1, 600682.0003)

•

en:caused by mutation in the smad nuclear interacting protein-1 gene (snip1, 608241.0001)

•

en:caused by mutation in the serpin peptidase inhibitor, clade h, member 1 (serpinh1, 600943.0002)

•

en:caused by mutation in the sepiapterin reductase gene (spr, 182125.0001)

•

en:caused by mutation in the sal-like 4 gene (sall4, 607323.0001)

•

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

•

en:caused by mutation in the ras-associated protein rab39b gene (rab39b, 300774.0003)

•

en:caused by mutation in the r-type arachidonate 12-lipoxygenase gene (alox12b, 603741.0001)

•

en:caused by mutation in the protocadherin 19 gene (pcdh19, 300460.0001).

•

en:caused by mutation in the protein o-fucosyltransferase-1 gene (pofut1, 607491.0001)

•

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

•

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

•

en:caused by mutation in the potassium channel, voltage-gated, subfamily v, member 2 gene (kcnv2, 607604.0001)

•

en:caused by mutation in the potassium channel, subfamily t, member 1 gene (kcnt1, 608167.0005)

•

en:caused by mutation in the pleckstrin homology domain-containing protein, family g, member 5 gene (plekhg5, 611101.0001)

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0001)

•

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

•

en:caused by mutation in the phospholipase c, gamma-2 gene (plcg2, 600220.0001)

•

en:caused by mutation in the phosphoglycerate mutase 2 gene (pgam2, 612931.0001)

•

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

•

en:caused by mutation in the phosphatidylinositol glycan, class l gene (pigl, 605947.0001).

•

en:caused by mutation in the phosphatidylinositol-3-phosphate 5-kinase, type iii gene (pip5k3, 609414.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-6 gene (pex6, 601498.0003)

•

en:caused by mutation in the peroxisome biogenesis factor-3 gene (pex3, 603164.0001)

•

en:caused by mutation in the parathyroid hormone-like hormone gene (pthlh, 168470.0001)

•

en:caused by mutation in the paired box homeotic gene 2 (pax2, 167409.0001)

•

en:caused by mutation in the oligophrenin 1 gene (ophn1, 300127.0001)

•

en:caused by mutation in the nuclear receptor subfamily 2, group f, member 1 gene (nr2f1, 132890.0001)

•

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

•

en:caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene (dguok, 601465.0001).

•

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

•

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

•

en:caused by mutation in the nerve growth factor-beta gene (ngfb, 162030.0001)

•

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 (ubiquinone) fe-s protein 4 gene (ndufs4, 602694.0001)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 2 gene (ndufa2, 602137.0001)

•

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

•

en:caused by mutation in the myosin viia gene (myo7a, 276903.0007)

•

en:caused by mutation in the myosin va gene (myo5a, 160777.0002)

•

en:caused by mutation in the myosin heavy chain 3 gene (myh3, 160720.0005)

•

en:caused by mutation in the myosin 5a gene (myo5a, 160777.0004)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0017)

•

en:caused by mutation in the mitogen-activated protein kinase kinase 1 gene (map2k1, 176872.0001)

•

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

•

en:caused by mutation in the methylmalonyl-coa mutase gene (mut, 251000.0001)

•

en:caused by mutation in the methionyl-trna synthetase 2 gene (mars2, 609728.0001)

•

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

•

en:caused by mutation in the mage-like 2 gene (magel2, 605283.0001)

•

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

•

en:caused by mutation in the latent transforming growth factor-beta binding protein 4 gene (ltbp4, 604710.0001)

•

en:caused by mutation in the kidney chloride channel b gene (clcnkb, 602023.0001)

•

en:caused by mutation in the keratin-14 gene (krt14, 148066.0016)

•

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

•

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

•

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

•

en:caused by mutation in the integrin-beta-4 gene (itgb4, 147557.0001)

•

en:caused by mutation in the insulin receptor gene (insr, 147670.0002)

•

en:caused by mutation in the inositol polyphosphate phosphatase-like 1 gene (inppl1, 600829.0001)

•

en:caused by mutation in the inhibitor of kappa light polypeptide gene enhancer in b cells, kinase of, beta gene (ikbkb, 603258.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the e. coli bola, 3 gene (bola3, 613183.0001)

•

en:caused by mutation in the homolog of the drosophila twist 2 gene (twist2, 607556.0001)

•

en:caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0001)

•

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 frizzled-6 gene (fzd6, 603409.0001)

•

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

•

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

•

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

•

en:caused by mutation in the hemoglobin gamma b gene (hbg2, 142250.0026)

•

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

•

en:caused by mutation in the glucokinase gene (gck, 138079.0011)

•

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

•

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

•

en:caused by mutation in the fukutin gene (fktn, 607440.0009)

•

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

•

en:caused by mutation in the filamin b gene (flnb, 603381.0004)

•

en:caused by mutation in the fibroblast growth factor 23 gene (fgf23, 605380.0003)

•

en:caused by mutation in the ferm domain-containing 7 gene (frmd7, 300628.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 4 gene (eif2b4, 606687.0001)

•

en:caused by mutation in the ets variant gene 6 (etv, 600618.0003)

•

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

•

en:caused by mutation in the ectodysplasin a gene (ed1, 300451.0001)

•

en:caused by mutation in the dyslexia susceptibility 1 candidate 1 gene (dyx1c1, 608706.0001)

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily b, member 2 gene (dnajb2, 604139.0003)

•

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

•

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

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0003)

•

en:caused by mutation in the delta-aminolevulinate synthase 2 gene (alas2, 301300.0015)

•

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

•

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

•

en:caused by mutation in the cytochrome p450, subfamily xib, polypeptide 2 gene (cyp11b2, 124080.0001)

•

en:caused by mutation in the cytochrome b of complex iii gene (mtcyb, 516020.0001)

•

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

•

en:caused by mutation in the collagen xviii, alpha-1 polypeptide gene (col18a1, 120328.0001)

•

en:caused by mutation in the collagen xi, alpha-1 polypeptide gene (col11a1, 120280.0002)

•

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

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0007)

•

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

•

en:caused by mutation in the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (chchd10, 615903.0004)

•

en:caused by mutation in the chromatin licensing and dna replication factor 1 gene (cdt1, 605525.0001)

•

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

•

en:caused by mutation in the chloride intracellular channel-5 gene (clic5, 607293.0001)

•

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

•

en:caused by mutation in the cell death-inducing dffa-like effector c gene (cidec, 612120.0001)

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0012)

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0001)

•

en:caused by mutation in the cardiac troponin t2 gene (tnnt2, 191045.0011)

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0001)

•

en:caused by mutation in the carbonic anhydrase viii gene (ca8, 114815.0001)

•

en:caused by mutation in the branched chain keto acid dehydrogenase e1, alpha polypeptide gene (bckdha, 608348.0001)

•

en:caused by mutation in the beta-1 catenin gene (ctnnb1, 116806.0017)

•

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

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, v0 subunit a2 gene (atp6v0a2, 611716.0001)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0008)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 11 gene (abcb11, 603201.0001)

•

en:caused by mutation in the ataxia-telangiectasia mutated gene (atm, 607585.0001)

•

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

•

en:caused by mutation in the arylsulfatase b gene (arsb, 611542.0001)

•

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

•

en:caused by mutation in the antithrombin iii gene (at3, 107300.0001)

•

en:caused by mutation in the angiopoietin-like 4 gene (angptl4, 605910.0001)

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0020)

•

en:caused by mutation in the alpha-dystrobrevin gene (dtna, 601239.0001)

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0016)

•

en:caused by mutation in the aggrecan gene (acan, 155760.0003)

•

en:caused by mutation in the af4/fmr2 family, member 2 gene (aff2, 300806.0001)

•

en:caused by mutation in the adenylate kinase-2 gene (ak2, 103020.0001)

•

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

•

en:caused by mutation in the adaptor-related protein complex 4, sigma-1 subunit (ap4s1, 607243.0001)

•

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

•

en:caused by mutation in the adamts-like 4 gene (adamtsl4, 610113.0001)

•

en:caused by mutation in the acid beta-glucosidase gene (gba, 606463.0004)

•

en:caused by mutation in the aarf domain-containing kinase 4 gene (adck4, 615567.0001)

•

en:caused by mutation in the 83-kd centrosomal protein gene (cep83, 615847.0001)

•

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

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0001)

•

en:caused by mutations in the survival of motor neuron 1 gene (smn1, 600354.0011)

•

en:caused by mutations in the secreted ly6/upar-related protein 1 gene (slurp1, 606119.0001)

•

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

•

en:caused by mutations in the nijmegen breakage syndrome gene (nbs1, 602667.0001)

•

en:caused by mutations in the homolog of the mouse noggin gene (nog, 602991.0006)

•

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

•

en:caused by fusion of the ret protooncogene (164761) with tif1g (605769), d10s170 (601985), ele1 (601984), and prkar1a (188830)

•

en:caused by deletion of 1.5mb on 3q29 encompassing 22 genes

•

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

•

en:associated with snps in the b-cell cll/lymphoma 11a gene (bcl11a, 606557.0001)

•

en:susceptibility conferred by 9-snp haplotype in malic enzyme 2 (me2, 154270.0001)

•

en:linked to a locus at 16q.

•

en:full trisomy 21, 94%

•

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 partial duplication of mtdna

•

en:caused by mutation in the zinc finger protein 469 gene (znf469, 612078.0001)

•

en:caused by mutation in the xpc gene (xpc, 613208.0001)

•

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

•

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

•

en:caused by mutation in the von willebrand factor gene (vwf, 613160.0001)

•

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

•

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

•

en:caused by mutation in the voltage-gated potassium channel, shaw-related subfamily, member 3 gene (kcnc3, 176264.0001)

•

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 v-ki-ras2 kirsten rat sarcoma viral oncogene homolog gene (kras, 190070.0005)

•

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

•

en:caused by mutation in the thyroid-stimulating hormone receptor gene (tshr, 603372.0005)

•

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

•

en:caused by mutation in the synaptic nuclear envelope protein 1 gene (syne1, 608441.0008).

•

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

•

en:caused by mutation in the spastin gene (spg4, 604277.0001)

•

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

•

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 26, member 4 gene (slc26a4, 605646.0001)

•

en:caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 gene (slc24a5, 609802.0001)

•

en:caused by mutation in the sialyltransferase-9 gene (siat9, 604402.0001)

•

en:caused by mutation in the seryl-trna synthetase 2 gene (sars2, 612804.0001)

•

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

•

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

•

en:caused by mutation in the s. cerevisiae homolog of mediator of rna polymerase ii transcription, subunit 25 gene (med25, 610197.0001).

•

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

•

en:caused by mutation in the rna-binding motif protein 8a gene (rbm8a, 605313.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ras-associated protein rab7 (602298.0001)

•

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

•

en:caused by mutation in the pyrroline-5-carboxylate reductase 1 gene (pycr1, 179035.0001)

•

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

•

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

•

en:caused by mutation in the proliferating cell nuclear antigen gene (pcna, 176740.0001)

•

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

•

en:caused by mutation in the post-gpi attachment to proteins 2 gene (pgap2, 615187.0001)

•

en:caused by mutation in the polymerase (dna-directed), delta 1, catalytic subunit gene (pold1, 174761.0003)

•

en:caused by mutation in the platelet glycoprotein ib, beta polypeptide, gene (gp1bb, 138720.0001)

•

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

•

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

•

en:caused by mutation in the phytanoyl-coa hydroxylase gene (phyh, 602026.0001)

•

en:caused by mutation in the phospholipase c, epsilon-1 gene (plce1, 608414.0001)

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-26 gene (pex26, 608666.0002)

•

en:caused by mutation in the palladin gene (pldn, 604310.0001)

•

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

•

en:caused by mutation in the origin recognition complex, subunit 4, gene (orc4, 603056.0001)

•

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 subfamily 3, group c, member 2 gene (nr3c2, 600983.0001)

•

en:caused by mutation in the nipped-b-like gene (nipbl, 608667.0001)

•

en:caused by mutation in the never in mitosis gene a-related kinase 8 gene (nek8, 609799.0002)

•

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

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex 11 gene (ndufa11, 612638.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-8 gene (myh8, 160741.0001)

•

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

•

en:caused by mutation in the mmaa gene (mmaa, 607481.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 5 gene (lrp5, 603506.0015)

•

en:caused by mutation in the leucine-rich repeat kinase 2 gene (lrrk2, 609007.0001)

•

en:caused by mutation in the latent transforming growth factor beta binding protein 2 gene (ltbp2, 602091.0005)

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0021)

•

en:caused by mutation in the kiaa1033 gene (kiaa1033, 615748.0001)

•

en:caused by mutation in the keratin 5 gene (krt5, 148040.0018)

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0014)

•

en:caused by mutation in the kelch-like 3 gene (klhl3, 605775.0001)

•

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

•

en:caused by mutation in the integrin, alpha-2b gene (itga2b, 607759.0017)

•

en:caused by mutation in the integral membrane protein-2b gene (itm2b, 603904.0003)

•

en:caused by mutation in the human homolog of the iron-sulfur cluster scaffold gene (iscu, 611911.0001)

•

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

•

en:caused by mutation in the hormone-sensitive lipase gene (lipe, 151750.0001)

•

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 pet100 gene (pet100, 614770.0001).

•

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

•

en:caused by mutation in the homolog of the e. coli muts 6 gene (msh6, 600678.0012)

•

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 atp-dependent protease clpap, proteolytic subunit gene (clpp, 601119.0001)

•

en:caused by mutation in the homolog of the drosophila dachsous 1 gene (dchs1, 603057.0001)

•

en:caused by mutation in the holocytochrome c synthase gene (hccs, 300056.0001)

•

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

•

en:caused by mutation in the heat-shock 22-kd protein 8 gene (hspb8, 608014.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fras1-related extracellular matrix protein 2 gene (frem2, 608945.0001)

•

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

•

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

•

en:caused by mutation in the exosome component 3 gene (exosc3, 606489.0001)

•

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

•

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

•

en:caused by mutation in the epidermal growth factor gene (egfr, 131550.0007)

•

en:caused by mutation in the edar-associated death domain gene (edaradd, 606603.0002)

•

en:caused by mutation in the dysferlin gene (dysf, 603009.0002)

•

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

•

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

•

en:caused by mutation in the discoidin domain receptor family, member 2 gene (ddr2, 191311.0001)

•

en:caused by mutation in the dihydropyrimidine dehydrogenase gene (dpyd, 612779.0001).

•

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

•

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 xib, polypeptide 2 gene (cyp11b2, 124080.0002)

•

en:caused by mutation in the cytochrome p450, subfamily iic (mephenytoin 4'-hydroxylase) gene (cyp2c, 124020.0001)

•

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

•

en:caused by mutation in the cyld gene (605018.0005)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 12 open reading frame 65 gene (c12orf65, 613541.0001)

•

en:caused by mutation in the chromosome 10 open reading frame 11 gene (c10orf11, 614537.0001)

•

en:caused by mutation in the cholinergic receptor, nicotinic, epsilon polypeptide gene (chrne, 100725.0004)

•

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

•

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

•

en:caused by mutation in the chloride intracellular channel 2 gene (clic2, 300138.0001)

•

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

•

en:caused by mutation in the cd3 antigen, epsilon subunit gene (cd3e, 186830.0001)

•

en:caused by mutation in the calsequestrin 1 gene (casq1, 114250.0001)

•

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

•

en:caused by mutation in the c8orf38 gene (c8orf38, 612392.0001)

•

en:caused by mutation in the bone morphogenetic protein 4 (bmp4, 112262.0001)

•

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

•

en:caused by mutation in the beta-4 gap junction protein gene (gjb4, 605425.0001)

•

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

•

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

•

en:caused by mutation in the avian sarcoma viral (v-ski) oncogene homolog gene (ski, 164780.0001)

•

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 6 gene (abcc6, 603234.0001)

•

en:caused by mutation in the asparaginyl-trna synthetase 2 gene (nars2, 612803.0001)

•

en:caused by mutation in the arginyl-trna synthetase 1 gene (rars, 107820.0001)

•

en:caused by mutation in the arginine vasopressin receptor-2 gene (avpr2, 300538.0001)

•

en:caused by mutation in the alpha-1,4-glucosidase gene (gaa, 606800.0002)

•

en:caused by mutation in the aldehyde dehydrogenase 1 family, member a3 gene (aldh1a3, 600463.0001)

•

en:caused by mutation in the adp-ribosylation factor guanine nucleotide exchange factor 2 gene (arfgef2, 605371.0001)

•

en:caused by mutation in the additional sex combs-like 1 gene (asxl1, 612990.0001)

•

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

•

en:caused by mutation in the 3-prime repair exonuclease-1 gene (trex1, 606609.0005)

•

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

•

en:caused by mutations in the wilms tumor 1 gene (wt1, 607102.0021)

•

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

•

en:caused by mutations in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase gene (gne, 603824.0001)

•

en:caused by mutations in the tropomyosin 2 gene (tpm2, 190990.0001)

•

en:caused by mutations in the solute carrier family 26 (sulfate transporter), member 2 gene (slc26a2, 606718.0001)

•

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

•

en:caused by mutations in the nlr family, pyrin-domain containing 12 gene (nlrp12, 609648.0001)

•

en:caused by mutations in the helicase-2 gene (xh2, 300032.0011)

•

en:caused by mutations in the bcl6 corepressor gene (bcor, 300485.0001)

•

en:caused by duplication of 8q22.1-qter and deletion of 8pter-p23.1

•

en:caused by contiguous gene duplication (chrx:135.6-136.1, grch37) on xq26.3

•

en:caused by a trinucleotide repeat expansion (cag)n in the tata box-binding protein gene (tbp, 600075.0001)

•

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

•

en:associated with mutation in the beta-1 catenin gene (ctnnb1, 116806.0013)

•

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 allele 2 of the dinucleotide repeat in the dopamine receptor drd5 gene (126453.0001)

•

en:rare cases secondary to chromosome translocation

•

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

•

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

•

en:caused by somatic mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (gnas1, 139320.0008)

•

en:caused by mutation in the zinc metalloproteinase ste24 gene (zmpste24, 606480.0001)

•

en:caused by mutation in the zinc finger protein 335 gene (znf335, 610827.0001)

•

en:caused by mutation in the zinc finger- and btb domain-containing protein-42 (zbtb42, 613915.0001)

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0004)

•

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

•

en:caused by mutation in the ventral anterior homeobox-1 gene (vax1, 604924.0001)

•

en:caused by mutation in the v-kit hardy-zuckerman 4 feline sarcoma viral oncogene homolog gene (kit, 164920.0011)

•

en:caused by mutation in the uv-stimulated scaffold protein a gene (uvssa, 614632.0001)

•

en:caused by mutation in the udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3 gene (galnt3, 601756.0001)

•

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

•

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

•

en:caused by mutation in the tubulin, alpha-8 gene (tuba8, 605472.0001)

•

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

•

en:caused by mutation in the transmembrane protein 67 gene (tmem67, 609884.0013)

•

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 transmembrane protein 126a gene (tmem126a, 612988.0001)

•

en:caused by mutation in the transmembrane protease, serine 6 gene (tmprss6, 609862.0001)

•

en:caused by mutation in the transforming growth factor, beta-induced, 68kd gene (tgfbi, 601692.0005)

•

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

•

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

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0012)

•

en:caused by mutation in the sulfite oxidase gene (suox, 606887.0001)

•

en:caused by mutation in the succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 600857.0001)

•

en:caused by mutation in the stt3, subunit of the oligosaccharyltransferase complex, s. cerevisiae, homolog of, a gene (stt3a, 601134.0001)

•

en:caused by mutation in the solute carrier family 34, member 3 gene (609826.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene (slc25a22, 609302.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrin), member 13 (slc25a13, 603859.0001)

•

en:caused by mutation in the solute carrier family 10 (sodium/bile acid cotransporter family), member 2 gene (slc10a2, 601295.0001)

•

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

•

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

•

en:caused by mutation in the short/branched-chain acyl-coa dehydrogenase gene (acadsb, 600301.0001)

•

en:caused by mutation in the serine protease inhibitor, kazal type, 5 gene (spink5, 605010.0001)

•

en:caused by mutation in the septin 9 gene (sept9, 604061.0001)

•

en:caused by mutation in the sbds gene (sbds, 607444.0001)

•

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

•

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

•

en:caused by mutation in the runt-related transcription factor 2 gene (runx2, 600211.0001)

•

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

•

en:caused by mutation in the rna-binding motif protein 28 gene (rbm28, 612074.0001)

•

en:caused by mutation in the ribonuclease h2, subunit b gene (rnaseh2b, 610326.0001)

•

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

•

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 pterin-4-alpha-carbinolamine dehydratase 1 gene (pcbd1, 126090.0001)

•

en:caused by mutation in the psmc3-interacting protein gene (psmc3ip, 608665.0001)

•

en:caused by mutation in the protein s gene (pros1, 176880.0010)

•

en:caused by mutation in the prominin-1 gene (prom1, 604365.0013)

•

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

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 gene (plod3, 603066.0001)

•

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

•

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 platelet-derived growth factor, beta polypeptide gene (pdgfb, 190040.0003)

•

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

•

en:caused by mutation in the phosphoglucomutase-3 gene (pgm3, 172100.0001)

•

en:caused by mutation in the phosphodiesterase 6d, cgmp-specific, rod, delta gene (pde6d, 602676.0001)

•

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

•

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

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 6 (pnpla6, 603197.0004)

•

en:caused by mutation in the pantothenate kinase-2 gene (pank2, 607157.0011)

•

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

•

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

•

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

•

en:caused by mutation in the nephrocystin 4 gene (nphp4, 607215.0006)

•

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

•

en:caused by mutation in the n-acetylglucosamine-6-sulfatase gene (gns, 607664.0001)

•

en:caused by mutation in the myozenin 2 gene (myoz2, 605602.0001)

•

en:caused by mutation in the myocilin gene (myoc, 601652.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0004)

•

en:caused by mutation in the mitochondrial transfer rna cysteine gene (mttc, 590020.0001)

•

en:caused by mutation in the minichromosome maintenance deficient domain containing-1 gene (mcmdc1, 610098.0001)

•

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 methionine synthase gene (mtr, 156570.0001)

•

en:caused by mutation in the mediator complex subunit 17 gene (med17, 603810.0001)

•

en:caused by mutation in the matrin-3 gene (matr3, 164017.0001)

•

en:caused by mutation in the lysophosphatidic acid receptor 6 gene (p2ry5, 609239.0001)

•

en:caused by mutation in the lim domain-binding 3 gene (ldb3, 605906.0001)

•

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

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0003)

•

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

•

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

•

en:caused by mutation in the keratin 6a gene (krt6a, 148041.0001)

•

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

•

en:caused by mutation in the ionotropic n-methyl-d-aspartate glutamate receptor subunit 2a gene (grin2a, 138253.0001)

•

en:caused by mutation in the inverted formin 2 gene (inf2, 610982.0006)

•

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

•

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 insulin gene (ins, 176730.0001)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (itpr1, 147265.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila diaphanous, 3, gene (diaph3, 614567.0001).

•

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 drosophila sprouty-4 gene (spry4, 607984.0001)

•

en:caused by mutation in the homolog 1 of drosophila notch gene (notch1, 190198.0003)

•

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

•

en:caused by mutation in the hexokinase 1 gene (hk1, 142600.0001)

•

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

•

en:caused by mutation in the glutamyl-trna synthetase 2 gene (ears2, 612799.0001)

•

en:caused by mutation in the gli-kruppel family member gli3 gene (gli3, 165240.0001)

•

en:caused by mutation in the gene encoding the mapbp-interacting protein gene (mapbpip, 610389.0001)

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0007)

•

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

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606598.0006)

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606589.0001)

•

en:caused by mutation in the gamma subunit of the nonvoltage-gated sodium channel 1 gene (scnn1g, 600761.0002)

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0008)

•

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

•

en:caused by mutation in the ferritin light chain gene (ftl, 134790.0018)

•

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 111, member a gene (fam111a, 615292.0001)

•

en:caused by mutation in the factor xiii alpha subunit (f13a1, 134570.0001)

•

en:caused by mutation in the f-box only protein 31 gene (fbxo31, 609102.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 4-gamma, 1 gene (eif4g1, 600495.0001)

•

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

•

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

•

en:caused by mutation in the cytochrome c oxidase, subunit 15 gene (cox15, 603646.0001)

•

en:caused by mutation in the cystatin b gene (cstb, 601145.0001)

•

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

•

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

•

en:caused by mutation in the cyclin-dependent kinase inhibitor 1c gene (cdkn1c, 600856.0007)

•

en:caused by mutation in the connexin 26 gene (gjb2, 121011.0020)

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0012)

•

en:caused by mutation in the collagen vi, alpha-3 polypeptide gene (col6a3, 120250.0001)

•

en:caused by mutation in the collagen type viii alpha-2 gene (col8a2, 120252.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 88c (ccdc88c, 611204.0001)

•

en:caused by mutation in the chromosome 5 open reading frame 42 gene (c5orf42, 614571.0001)

•

en:caused by mutation in the chromosome 2 open reading frame 25 gene (c2orf25, 611935.0001)

•

en:caused by mutation in the chromodomain helicase dna-binding protein 7 gene (chd7, 608892.0001)

•

en:caused by mutation in the chordin-like-1 gene (chrdl1, 300350.0001)

•

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

•

en:caused by mutation in the chloride channel 5 gene (clcn5, 300008.0007)

•

en:caused by mutation in the centrosome spindle pole-associated protein 1 gene (cspp1, 611654.0001)

•

en:caused by mutation in the cd19 antigen gene (cd191, 107265.0001)

•

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

•

en:caused by mutation in the calsequestrin-2 gene (casq2, 114251.0002)

•

en:caused by mutation in the calmodulin-1 gene (calm1, 114180.0003)

•

en:caused by mutation in the calcium-binding protein 2 gene (cabp2, 607314.0001)

•

en:caused by mutation in the c2 calcium-dependent domain-containing protein 3 gene (c2cd3, 615944.0001)

•

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

•

en:caused by mutation in the bestrophin 1 gene (best1, 607854.0020)

•

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

•

en:caused by mutation in the atpase, na+/k+ transporting, alpha-3 polypeptide (atp1a3, 182350.0014)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily g, member 8 gene (abcg8, 605460.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0001)

•

en:caused by mutation in the ataxia-telangiectasia and rad3-related gene (atr, 601215.0001)

•

en:caused by mutation in the aristaless-like 4, mouse, homolog of, gene (alx4, 605420.0008)

•

en:caused by mutation in the arginine vasopressin receptor 2 gene (avpr2, 300538.0021)

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0001)

•

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

•

en:caused by mutation in the 43-kd receptor-association protein of the synapse, gene (rapsn, 601592.0013)

•

en:caused by mutation in the 3-prime repair exonuclease 1 gene (trex1, 606609.0001)

•

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

•

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

•

en:caused by mutation in the 152-kd centrosomal protein gene (cep152, 613529.0001)

•

en:caused by mutations in the zinc finger transcription factor trps1 (trps1, 604386.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the atp-binding cassette, subfamily b, member 7 gene (abcb7, 300135.0001).

•

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

•

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

•

en:a contiguous gene syndrome caused by mutations in the zinc finger transcription factor trps1 (trps1, 604386) and the exostosin 1 gene (ext1, 133700)

•

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

•

en:susceptibility conferred by mutation in the major histocompatibility complex, class i, c gene (hla-c, 142840.0001)

•

en:contiguous gene syndrome caused by duplication (269kb) on 9q21.11 including the tight junction protein 2 (tjp2, 607709) gene and the family with sequence similarity 189, member a2 (fam189a2, 607710) gene

•

en:caused by somatic mutation in the janus kinase 2 gene (jak2, 147796)

•

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 fyve-domain containing protein-27 gene (zfyve27, 610243.0001)

•

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

•

en:caused by mutation in the wd repeat-containing protein-35 gene (wdr35, 613602.0005)

•

en:caused by mutation in the von hippel-lindau gene (vhl, 608537.0001)

•

en:caused by mutation in the vhl gene (vhl, 608537.0014)

•

en:caused by mutation in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (maf, 177075.0001)

•

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

•

en:caused by mutation in the ubiquitin protein ligase e3a gene (ube3a, 601623.0001)

•

en:caused by mutation in the type 2 bone morphogenetic protein receptor gene (bmpr2, 600799.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transmembrane protein-43 gene (tmem43, 612048.0001)

•

en:caused by mutation in the trafficking protein particle complex, subunit 11 gene (trappc11, 614138.0001)

•

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

•

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 t-box 3 gene (tbx3, 601621.0001)

•

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

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene (smarcb1, 601607.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 3 (cystine, dibasic, and neutral amino acid transporter), member 1 gene (slc3a1, 104614.0001)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 10 gene (slc2a10, 606145.0001)

•

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

•

en:caused by mutation in the solute carrier family 19, folate transporter, member 3 gene (slc19a3, 606152.0001)

•

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

•

en:caused by mutation in the signal transducer and activator of transcription 3 gene (stat3, 102582.0008)

•

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

•

en:caused by mutation in the scavenger receptor class f, member 2 gene (scarf2, 613619.0001)

•

en:caused by mutation in the ribonucleotide reductase, m2 b gene (rrm2b, 604712.0006)

•

en:caused by mutation in the ribonuclease h2, subunit a gene (rnaseh2a, 606034.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the receptor tyrosine kinase-like orphan receptor 2 gene (ror2, 602337.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein o-mannose beta-1,2-n-acetylglucosaminyltransferase gene (pomgnt1, 606822.0001)

•

en:caused by mutation in the protein kinase c substrate, 80-kd heavy chain gene (prkcsh, 177060.0001), or in the gene encoding the human homolog of s. cerevisiae sec63 (sec63, 608648.0001)

•

en:caused by mutation in the protein c gene (proc, 612283.0003)

•

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

•

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

•

en:caused by mutation in the potassium inwardly-rectifying channel, subfamily j, member 1 gene (kcnj1, 600359.0001)

•

en:caused by mutation in the potassium channel, inwardly rectifying, subfamily j, member 2 gene (kcnj1, 600681.0014)

•

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

•

en:caused by mutation in the poly-u-binding splicing factor, 60kd gene (puf60, 604819.0001)

•

en:caused by mutation in the poliovirus receptor-like 1 gene (pvrl1, 600644.0002)

•

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

•

en:caused by mutation in the phospholipase c, beta-1 gene (plcb1, 607120.0001)

•

en:caused by mutation in the phosphodiesterase-6c, cgmp-specific, cone, alpha prime gene (pde6c, 600827.0001)

•

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

•

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

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0001)

•

en:caused by mutation in the peroxisome biogenesis factor-5 gene (pex5, 600414.0002)

•

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

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 1 gene (pnpla1, 612121.0001)

•

en:caused by mutation in the p21-activated kinase 3 gene (pak3, 300142.0001)

•

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

•

en:caused by mutation in the nuclear-encoded mitochondrial dna polymerase-gamma gene (polg, 174763.0008)

•

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

•

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

•

en:caused by mutation in the neutrophil cytosolic factor-2 gene, p67-phox (ncf2, 608515.0001)

•

en:caused by mutation in the neurofibromin gene (nf1, 613113.0033)

•

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

•

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

•

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

•

en:caused by mutation in the myosin, heavy chain 9, nonmuscle gene (myh9, 160775.0008)

•

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

•

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

•

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 leucine 1 gene (mttl1, 590050.0001)

•

en:caused by mutation in the mitochondrial transfer rna glutamine gene (mttq, 590030.0003)

•

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, 156845.0001)

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0009)

•

en:caused by mutation in the methylmalonyl-coa epimerase gene (mcee, 608419.0001)

•

en:caused by mutation in the methyl-cpg-binding domain protein 5 gene (mbd5, 611472.0001)

•

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

•

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

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0030)

•

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

•

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

•

en:caused by mutation in the keratin 85 gene (krt85, 602767.0001)

•

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

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0004)

•

en:caused by mutation in the intestinal cell kinase gene (ick, 612325.0001)

•

en:caused by mutation in the integrin, beta-3 gene (itgb3, 173470.0001)

•

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

•

en:caused by mutation in the homolog of the yeast dna replication helicase 2 gene (dna2, 601810.0001)

•

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

•

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

•

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

•

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 the chlamydomonas radial spoke head 1 gene (rsph1, 609314.0001)

•

en:caused by mutation in the homeo box c13 gene (hoxc13, 142976.0001)

•

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

•

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

•

en:caused by mutation in the gene encoding the beaded filament structural protein 2 (bfsp2, 603212.0001)

•

en:caused by mutation in the gap junction protein, beta-2, 26kd gene (gjb2, 121011.0015)

•

en:caused by mutation in the gap junction protein, alpha-1 gene (gja1, 121014.0021)

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606598.0002)

•

en:caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (gabrg2, 137164.0002)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0001)

•

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

•

en:caused by mutation in the ferritin light chain gene (ftl, 134790.0001)

•

en:caused by mutation in the family with sequence similarity 126 gene, member a gene (fam126a, 610531.0001)

•

en:caused by mutation in the faciogenital dysplasia gene (fgd1, 300546.0001)

•

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

•

en:caused by mutation in the evc gene (evc, 604831.0006)

•

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

•

en:caused by mutation in the enteric smooth muscle actin gamma-2 gene (actg2, 102545.0001)

•

en:caused by mutation in the endoglin gene (eng, 131195.0001)

•

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

•

en:caused by mutation in the dystrophin gene (dmd, 300377.0001)

•

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

•

en:caused by mutation in the dna helicase, recq-like, type 4 gene (recql4, 603780.0012)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily b, member 2 gene (dnajb2, 604139.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the connexin-32 gene (gjb1, 304040.0001)

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0002)

•

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

•

en:caused by mutation in the collagen ix, alpha-3 polypeptide gene (col9a3, 120270.0001)

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0004)

•

en:caused by mutation in the cholinergic receptor, nicotinic, beta polypeptide-1 gene (chrnb1, 100710.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cardiotrophin-like cytokine gene (clcf1, 607672.0001)

•

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

•

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

•

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

•

en:caused by mutation in the calmodulin-1 gene (calm1, 114180.0001)

•

en:caused by mutation in the calcium-activated nucleotidase 1 gene (cant1, 613165.0001)

•

en:caused by mutation in the barrier-to-autointegration factor-1 gene (banf1, 603811.0001)

•

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

•

en:caused by mutation in the ataxia-telangiectasia and rad3-related gene (atr, 601215.0002)

•

en:caused by mutation in the arylsulfatase e gene (arse, 300180.0001)

•

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

•

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

•

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

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0001)

•

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

•

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

•

en:caused by mutation in the adenosine deaminase gene (ada, 102700.0001)

•

en:caused by mutation in the activation-induced cytidine deaminase gene (aicda, 605257.0001)

•

en:caused by mutation in the actin, alpha-2, smooth muscle, aorta gene (acta2, 102620.0004)

•

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

•

en:caused by mutation in the 62-kd nucleoporin gene (nup62, 605815.0001)

•

en:caused by mutation in the 290-kd centrosomal protein (cep290, 610142.0013)

•

en:caused by mutation in galactose-1-phosphate uridyltransferase gene (galt, 230400.0001)

•

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

•

en:caused by mutations in the senataxin gene (setx, 608465.0001)

•

en:caused by mutations in the req-like dna helicase type 4 gene (reql4, 603780.0001)

•

en:caused by mutations in the parafibromin gene (hrpt2, 607393.0001)

•

en:caused by mutations in the neurofibromin gene (nf1, 162200.0010)

•

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

•

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

•

en:caused by mutations in the leukemia inhibitory factor receptor gene (lifr, 151443.0001)

•

en:caused by mutations in the homolog of drosophila muscle segment homeo box 1 gene (msx1, 142983.0003)

•

en:caused by mutations in the growth/differentiation factor-5 gene (gdf5, 601146.0003)

•

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

•

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

•

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

•

en:caused by mutations in the 1-acylglycerol-3-phosphate o-acyltransferase 2 gene (agpat2, 603100.0001).

•

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

•

en:caused by duplication of 120-527kb on 17p13.3

•

en:caused by contraction of a d4z4 repeat array at chromosome 4q35

•

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

•

en:caused by an sva retrotransposon insertion in an intron of the tata-binding protein-associated factor-1 gene (taf1, 313650.0001)

•

en:a contiguous gene syndrome involving deletion of the digeorge syndrome chromosome region (dgcr) involving mutations in tup-like enhancer of split 1 (tuple1, 600237) and digeorge critical region gene 2 (dgcr2, 600594)

•

en:a contiguous gene syndrome caused by deletion of chromosome 16q22 including the cbfb gene (121360)

•

en:a contiguous gene syndrome caused by deletion of 180kb encompassing 18 genes on chromosome 17p13.1

•

en:susceptibility conferred by polymorphisms in the brain-derived neurotrophic factor gene (bdnf, 113505.0002 and 113505.0003)

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

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

•

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

•

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

•

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

•

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

•

en:due to mutation in the microsomal triglyceride transfer protein gene (mtp, 157147.0001)

•

en:due to hemizygous deletion of 4p16.3

•

en:caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0003)

•

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 wd repeat-containing protein 62 (wdr62, 613583.0001)

•

en:caused by mutation in the ubiquitin-like modifier-activating enzyme 1 gene (uba1, 314370.0001)

•

en:caused by mutation in the type v collagen, alpha-2 gene (col5a2, 120190.0003)

•

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

•

en:caused by mutation in the troponin t1 gene (tnnt1, 191041.0001)

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily m, member 6 gene (trpm6, 607009.0001)

•

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

•

en:caused by mutation in the teashirt zinc finger homeobox-1 gene (tshz1, 614427.0001)

•

en:caused by mutation in the synaptic nuclear envelope protein 1 gene (syne2, 608442.0001).

•

en:caused by mutation in the superoxide dismutase-1 gene (sod-1, 147450.0001) susceptibility conferred by mutation in the angiogenin gene (ang, 105850.0001)

•

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 stromalin-3 gene (stag3, 608489.0001)

•

en:caused by mutation in the sterol 3-beta-hydroxysteroid-delta-5-desaturase gene (sc5dl, 602286.0001)

•

en:caused by mutation in the spectrin repeat-containing nuclear envelope protein 4 gene (syne4, 615535.0001)

•

en:caused by mutation in the solute carrier organic anion transporter family, member 2a1 gene (slco2a1, 601460.0001)

•

en:caused by mutation in the solute carrier family 6 (dopamine neurotransmitter transporter), member 3 gene (slc6a3, 126455.0002)

•

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

•

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 v, alpha polypeptide gene (scn5a, 600163.0001)

•

en:caused by mutation in the sh3 domain-binding protein-2 gene (sh3bp2, 602104.0001)

•

en:caused by mutation in the ribosomal protein sa gene (rpsa, 150370.0001)

•

en:caused by mutation in the ribose 5-phosphate isomerase a gene (rpia, 180430.0001)

•

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

•

en:caused by mutation in the rho guanine-nucleotide exchange factor-10 gene (arhgef10, 608136.0001)

•

en:caused by mutation in the receptor for the fc fragment of igg, low affinity iiia (fcgr3a, 146740.0002)

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 1 gene (rab3gap1, 602536.0001)

•

en:caused by mutation in the protein c gene (proc, 612283.0001)

•

en:caused by mutation in the prion protein gene (prnp, 176640.0010)

•

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

•

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

•

en:caused by mutation in the poliovirus receptor-like 1 gene (pvrl1, 600644.0001)

•

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 phosphatidylserine synthase 1 gene (ptdss1, 612792.0001)

•

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

•

en:caused by mutation in the pericentrin 2 gene (pcnt2, 605925.0004)

•

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

•

en:caused by mutation in the otoancorin gene (otoa, 607038.0001)

•

en:caused by mutation in the origin recognition complex, subunit 1, gene (orc1, 601902.0001)

•

en:caused by mutation in the opa1 gene (opa1, 605290.0011)

•

en:caused by mutation in the ofd1 protein gene (ofd1, 300170.0001)

•

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

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0021)

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0021)

•

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

•

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

•

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

•

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

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8234269 • caches: c1=6 c2=1002 c3=1

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