Le Diko - en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

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Le Diko - en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

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en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Associations d'idées

1000

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in a downstream enhancer of the alpha subunit of the pancreas transcription factor 1 gene (ptf1a, 607194)

•

en:caused by mutation in myosin, heavy chain 9, non-muscle gene (myh9, 160775.0001)

•

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

•

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

•

en:caused by mutation in the early growth response-2 gene (egr2, 129010.0001)

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 2 gene (flvcr2, 610865.0001)

•

en:caused by mutation in the gap junction protein, beta-2, 26kd gene (gjb2, 121011.0012)

•

en:caused by mutation in the heat repeat-containing protein-2 gene (heatr2, 614864.0001)

•

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

•

en:caused by mutation in the excision repair, complementing defective, in chinese hamster, 5 gene (ercc5, 133530.0003)

•

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

•

en:caused by mutation in the homolog of the drosophila discs large 3 gene (dlg3, 300189.0001)

•

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

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 (nsd1, 606681.0011)

•

en:caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (myh9, 160775.0006)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0022)

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila atonal 7 gene (atoh7, 609875.0001)

•

en:caused by mutation in the evc gene (evc, 604831.0001)

•

en:caused by mutation in the embryonic skeletal muscle heavy chain-3 myosin gene (myh3, 160270.0009)

•

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

•

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

•

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

•

en:caused by mutation in the fyve and coiled-coil domain containing-1 gene (fyco1, 607182.0001)

•

en:caused by mutation in the sipa1-like protein-3 gene (sipa1l3, 616655.0002)

•

en:caused by mutation in the rna-binding motif protein-20 gene (rbm20, 613171.0001)

•

en:caused by mutation in the ribonuclease h2, subunit c gene (rnaseh2c, 610330.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the holocarbyoxylase synthetase gene (hlcs, 253270.0001)

•

en:caused by mutation in the zona pellucida glycoprotein-1 gene (zp1, 195000.0001)

•

en:caused by mutation in the special at-rich sequence-binding protein 2 gene (satb2, 608148.0001)

•

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

•

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

•

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

•

en:caused by mutations in the chemokine (c-x-c motif) receptor 4 gene (cxcr4, 162643.0001)

•

en:caused by mutation in the wfs1 gene (606201)

•

en:caused by mutation in the voltage-gated potassium channel, shaw-related subfamily, member 1 gene (kcnc1, 176258.0001)

•

en:caused by mutation in the very long-chain acyl-coa dehydrogenase gene (acavld, 609575.0001)

•

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

•

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 transmembrane protein 216 gene (tmem216, 613277.0002)

•

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

•

en:caused by mutation in the lim domain binding 3 gene (ldb3, 605906.0005)

•

en:caused by mutation in the leucyl-trna synthetase 2 gene (lars2, 604544.0001)

•

en:caused by mutation in the kinesin family member 7 gene (kif7, 611254.0001)

•

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

•

en:caused by mutation in the alpha subunit of the 3-methylcrotonyl-coa carboxylase gene (mccc1, 609010.0001)

•

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

•

en:caused by mutations in the aldehyde dehydrogenase 3 family, member a2 gene (aldh3a2, 270200.0001)

•

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

•

en:susceptibility conferred by somatic mutation in kirsten rat sarcoma-2 viral (v-ki-ras2) oncogene homolog gene (kras, 190070.0005)

•

en:contiguous gene syndrome caused by deletion (2.2 mb) of chromosome 17q23.1-q23

•

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

•

en:caused by mutation in the tuberin gene (tsc2, 191092.0001)

•

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 retinol dehydrogenase 12 gene (rdh12, 608830.0001)

•

en:caused by mutation in the potassium channel, calcium-activated, intermediate/small conductance, subfamily n, member-4 gene (kcnn4, 602754.0001)

•

en:caused by mutation in the adp ribosylation factor-like 2-binding protein gene (arl2bp, 615407.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the activating signal cointegrator 1 complex, subunit 1 gene (ascc1, 614215.0002)

•

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

•

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

•

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

•

en:caused by mutations in the hamartin gene (tsc1, 605284.0007)

•

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

•

en:caused by mutation in the actin-binding protein anillin gene (anln, 616027.0001)

•

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

•

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

•

en:features other than acd/mpv are variably present

•

en:caused by mutation in the activating transcription factor-6 gene (atf6, 605537.0001)

•

en:caused by mutation in the solute carrier organic anion transporter family, member 2a1 gene (slco2a1, 601460.0001)

•

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

•

en:caused by mutation in the muscle phosphofructokinase gene (pfkm, 610681.0001)

•

en:caused by mutation in the manan-binding lectin serine protease-1 gene (masp1, 600521.0001)

•

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

•

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

•

en:caused by mutation in the stereocilin gene (strc, 606440.0001)

•

en:caused by mutation in the glutathione peroxidase-4 gene (gpx4, 138322.0001)

•

en:caused by mutation in the gene encoding desmoglein-1 (dsg1, 125670.0001)

•

en:caused by mutation in the fat mass- and obesity-associated gene (fto, 610966.0001)

•

en:caused by mutation in the dystrophin gene (dmd, 300377.0001)

•

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

•

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

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0001)

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0001)

•

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

•

en:caused by mutation in the angiotensinogen gene (agt, 106150.0003)

•

en:caused by mutation in the alanyl-trna synthetase gene (aars, 601065.0003)

•

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

•

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

•

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

•

en:caused by mutation in the sphingosine-1-phosphate receptor-2 gene (s1pr2, 605111.0001)

•

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

•

en:caused by mutation in the homolog 2 of drosophila enhancer of zeste (ezh2, 601573.0001)

•

en:caused by mutation in the homolog of the mouse aristaless-like 4 gene (alx4, 605420.0001)

•

en:caused by mutation in the aminomethyltransferase gene (amt, 238310.0001)

•

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

•

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

•

en:caused by mutation in the filamin a gene (300017.0009)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tgf-beta activated kinase 1 binding protein 2 gene (tab2, 605101.0001)

•

en:caused by mutation in the kiaa0586 gene (kiaa0586, 610178.0001)

•

en:caused by duplication of 300kb (chr12:64,803,839-65,098,981 (grch37)) on 12q14

•

en:caused by mutation in the kiaa0442 gene (kiaa0442, 607270.0001)

•

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

•

en:caused by mutation in the telomerase reverse transcriptase gene (tert, 187270.0001)

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605291.0001)

•

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

•

en:caused by mutation in the radixin gene (rdx, 179410.0001)

•

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

•

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

•

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

•

en:caused by mutation in the isoleucyl-trna synthetase 2 gene (iars2, 612801.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the heterogeneous nuclear ribonucleoprotein d-like protein gene (hnrnpdl, 607137.0001)

•

en:caused by mutation in the type i keratin-25 gene (krt25, 616646.0001)

•

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

•

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

•

en:caused by mutation in the phosphatidylinositol glycan, class n gene (pign, 606097.0001)

•

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

•

en:caused by mutation in the nonerythrocytic beta 2 spectrin gene (sptbn2, 604985.0001)

•

en:caused by mutation in the lipoic acid synthase gene (lias, 607031.0001)

•

en:caused by mutation in the laminin beta-2 gene (lamb2, 150325.0001)

•

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

•

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

•

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

•

en:caused by mutation in the glutaryl-coa dehydrogenase gene (gcdh, 608801.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the flj90130 gene (flj90130, 607461.0001)

•

en:caused by deletion of mtdna

•

en:caused by mutation in the salt-inducible kinase 1 gene (sik1, 605705.0001)

•

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

•

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

•

en:caused by mutation in the sec24-related gene family, member d gene (sec24d, 607186.0001)

•

en:caused by mutation in the gene encoding homolog of drosophila nanos-1 (nanos1, 608226.0001)

•

en:caused by somatic mosaic mutation in the harvey rat sarcoma viral (v-ha-ras) oncogene homolog gene (hras, 190020.0017)

•

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

•

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 sorting nexin 14 gene (snx14, 616105.0001)

•

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

•

en:caused by mutation in the member-5 subfamily-j inwardly rectifying potassium channel gene (kcnj5, 600734.0001)

•

en:caused by mutation in the leiomodin 3 (lmod3, 616112.0001)

•

en:caused by mutation in the homeobox a2 gene (hoxa2, 604685.0001)

•

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 e homolog of the drosophila nk2 transcription factor (nkx2e, 600584.0004)

•

en:caused by mutation in the collagen ix, alpha-3 polypeptide gene (col9a3, 120270.0001)

•

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

•

en:caused by mutation in the caspase recruitment domain-containing protein 11 gene (card11, 607210.0001)

•

en:caused by mutation in the cardiac troponin-t2 gene (tnnt2, 191045.0001)

•

en:caused by mutation in the adaptor-related protein complex 4, mu-1 subunit gene (ap4m1, 602296.0001)

•

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 ubiquitin-specific protease 9 gene, x-linked (usp9x, 300072.0004)

•

en:caused by mutation in the excision repair, complementing defective, in chinese hamster, 2 gene (ercc2, 126340.0001)

•

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

•

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

•

en:caused by mutation in the orai calcium release-activated calcium modulator 1 gene (orai1, 610277.0002)

•

en:susceptibility conferred by mutation in the dipeptidylpeptidase vi gene (dpp6, 126141.0001)

•

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

•

en:caused by mutation in the nuclear receptor subfamily 5, group a, member-1 gene (nr5a1, 184757.0001)

•

en:caused by mutation in the contactin 1 gene (cntn1, 600016.0001)

•

en:caused by mutation in the lman2-like protein gene (lman2l, 609552.0001)

•

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

•

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

•

en:caused by mutation in the dystrophin gene (dmd, 300377.0002)

•

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

•

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

•

en:caused by fusion of the cytochrome p450, subfamily xib, polypeptide 1 gene (cyp11b1, 610613) and the cytochrome p450, subfamily xib, polypeptide 2 gene (cyp11b2, 124080)

•

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

•

en:caused by mutation in the glial cell line-derived neurotrophic factor gene (gdnf, 600837.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0001)

•

en:caused by mutation in the protein c gene (proc, 612283.0001)

•

en:caused by mutation in the propionyl coenzyme a carboxylase, alpha polypeptide gene (pcca, 232000.0001)

•

en:caused by mutation in the prokineticin-2 gene (prok2, 607002.0001)

•

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

•

en:caused by mutation in the met protooncogene gene (met, 164860.0012)

•

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

•

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

•

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

•

en:caused by mutation in the forkhead box e3 gene (foxe3, 601094.0002)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 2 gene (eif2b2, 606454.0001)

•

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

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0003)

•

en:caused by mutation in the threonyl-trna synthetase 2 gene (tars2, 612805.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 2 gene (ndufs2, 602985.0001)

•

en:caused by mutation in the heterogeneous nuclear ribonucleoprotein k gene (hnrnpk, 600712.0001)

•

en:caused by mutation in the gnas complex locus gene (gnas, 139320.0031)

•

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

•

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

•

en:caused by mutation in the cytochrome b(-245) beta subunit gene (cybb, 300481.0001)

•

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

•

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

•

en:caused by mutation in the bcs1, s. cerevisiae, homolog-like gene (bcs1l, 603647.0002)

•

en:contiguous gene syndrome associated with duplication (4.5 - 9.2mb) of chromosome xp11.22-p11.23

•

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 tumor protein p63 gene (tp63, 603273.0001)

•

en:susceptibility conferred by mutation in the beta-2-adrenergic receptor gene (adrb2, 109690.0002)

•

en:caused by mutation in the kelch-like 10 gene (klhl10, 608778.0001)

•

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

•

en:susceptibility conferred by mutation in the semaphorin 3a gene (sema3a, 603961.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier 22 (urate transporter), member 12 gene (slc22a12, 607096.0001)

•

en:caused by mutation in the homolog of the mouse t brachyury gene (t, 601397.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the microphthalmia-associated transcription factor gene (mitf, 156845.0006)

•

en:caused by mutation in the membrane-bound transcription factor protease, site 2 gene (mbtps2, 300294.0008)

•

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

•

en:caused by mutation in the gli-kruppel family member 2 gene (gli2, 165230.0008)

•

en:caused by mutation in the f-box and leucine-rich repeat protein 4 gene (fbxl4, 605654.0001)

•

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

•

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

•

en:caused by mutation in the cadherin 3 gene (cdh3, 114021.0003)

•

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

•

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

•

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

•

en:caused by mutations in the ocrl1 gene (ocrl1, 300535.0001)

•

en:caused by mutations in the homolog of the drosophila notch 3 gene (notch3, 600276.0001).

•

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

•

en:caused by mutations in the aspartoacylase gene (aspa, 271900.0001)

•

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

•

en:caused by mutation in the syntaxin 1b gene (stx1b, 601485.0001)

•

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

•

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

•

en:caused by mutation in the kiaa0226 gene (kiaa0226, 613516.0001)

•

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

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0001).

•

en:caused by mutation in the tdp-glucose 4,6-dehydratase gene (tgds, 616146.0001)

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, beta gene (scnn1b, 600760.0009)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the brca1-associated atm activator 1 gene (brat1, 614506.0001)

•

en:caused by mutation in the histidyl-trna synthetase gene (hars, 142810.0002)

•

en:caused by mutation in the guanylate cyclase 2d, membrane, retina-specific gene (gucy2d, 600179.0001)

•

en:caused by mutation in the gap junction protein, alpha-1 gene (gja1, 121014.0021)

•

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

•

en:caused by mutation in the contactin-associated protein-like 1 gene (cntnap1, 602346.0001)

•

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

•

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

•

en:caused by mutations in the nhs gene (nhs, 300457.0001)

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 gene (nsd1, 606681.0001)

•

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

•

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

•

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

•

en:caused by mutation in the oxysterol-binding protein-like protein 2 gene (osbpl2, 606731.0001)

•

en:caused by mutation in the peripheral myelin protein-22 gene (pmp22, 601097.0010)

•

en:caused by mutation in the patched domain-containing protein 1 gene (ptchd1, 300828.0001)

•

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

•

en:caused by mutation in the olfactory receptor, family 2, subfamily j, member 3 gene (or2j3, 615016.0001)

•

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

•

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

•

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

•

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 polyglutamine-binding protein-1 gene (pqbp1, 300463.0001)

•

en:caused by mutation in the potassium channel tetramerization domain-containing 1 (kctd1, 613420.0001)

•

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

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 2 gene (kcnq2, 602235.0001)

•

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

•

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

•

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

•

en:caused by mutation in the nonmuscle myosin heavy chain 14 gene (myh14, 608568.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial arginyl-trna synthetase gene (rars2, 611524.0001)

•

en:caused by mutation in the lactate dehydrogenase a gene (ldha, 150000.0001)

•

en:caused by mutation in the laminin, alpha-1 gene (lama1, 150320.0001)

•

en:caused by mutation in the laminin alpha-2 chain gene (lama2, 156225.0001)

•

en:caused by mutation in the leucine-rich repeat- and sterile alpha motif-containing 1 gene (lrsam1, 610933.0001)

•

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

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0001)

•

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

•

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

•

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

•

en:caused by mutation in the malonyl-coa decarboxylase gene (mlycd, 606761.0001)

•

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

•

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

•

en:caused by mutation in the never-in-mitosis gene a-related kinase-2 gene (nek2, 604043.0001)

•

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

•

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

•

en:caused by mutation in the rar-related orphan receptor c gene (rorc, 602943.0001)

•

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

•

en:caused by mutation in the mkks gene (mkks, 604896.0003)

•

en:caused by mutation in the myeloid/lymphoid or mixed lineage leukemia 2 gene (mll2, 602113.0001)

•

en:caused by mutation in the myosin viia gene (myo7a, 276903.0011)

•

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

•

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

•

en:caused by mutation in the natriuretic peptide receptor b gene (npr2, 108961.0001)

•

en:caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 4 gene (chrna4, 118504.0002)

•

en:caused by mutation in the rab3 gtpase-activating protein (noncatalytic) subunit 2 gene (rab3gap2, 609275.0002)

•

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

•

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

•

en:caused by mutation in the vesicle-associated membrane protein 1 gene (vamp1, 185880.0001)

•

en:caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (tshb, 188540.0001)

•

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

•

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

•

en:caused by mutation in the transmembrane protein 126a gene (tmem126a, 612988.0001)

•

en:caused by mutation in the transmembrane protein 5 gene (tmem5, 605862.0001)

•

en:caused by mutation in the trio- and f-actin-binding protein (triobp, 609761.0001)

•

en:caused by mutation in the tubulin-specific chaperone e gene (tcbe, 604934.0001)

•

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

•

en:caused by mutation in the type 1b bone morphogenetic protein receptor gene (bmpr1b, 603248.0008)

•

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

•

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

•

en:caused by mutation in the x-ray repair complementing defective repair in chinese hamster cells-4 gene (xrcc4, 194363.0001)

•

en:caused by mutation in the teashirt zinc finger homeobox-1 gene (tshz1, 614427.0001)

•

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

•

en:caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0003)

•

en:cause by mutation in the anthrax toxin receptor 1 gene (antxr1, 606410.0002)

•

en:cause by mutation in the homolog of the s. cerevisiae alg2 gene (alg2, 607905.0001)

•

en:remainder of cases secondary to maternal disomy

•

en:susceptibility conferred by mutations in the matrilin-3 gene (matn3, 602109.0003)

•

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

•

en:susceptibility conferred by mutation in the cyclin-dependent kinase-4 gene (cdk4, 123829.0001)

•

en:susceptibility conferred by mutation in the dynactin 1 gene (dctn1, 601143.0002)

•

en:susceptibility conferred by mutation in the uncoupling protein-2 gene (ucp2, 601693.0001)

•

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

•

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

•

en:caused by mutation in the t-cell immune regulator 1 gene (tcirg1, 604592.0001)

•

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

•

en:caused by mutation in the small nuclear ribonucleoprotein polypeptide e gene (snrpe, 128160.0001)

•

en:caused by mutation in the retinol-binding protein-4 gene (rbp4, 180250.0004)

•

en:caused by mutation in the rhesus blood group-associated glycoprotein gene (rhag, 180297.0011)

•

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

•

en:caused by mutation in the ribose 5-phosphate isomerase a gene (rpia, 180430.0001)

•

en:caused by mutation in the ribosomal protein s19 gene (rps19, 603474.0001)

•

en:caused by mutation in the ribosomal protein s28 gene (rps28, 603685.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha polypeptide gene (scn5a, 600163.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, folate), member 32 gene (slc25a32, 610815.0001)

•

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 34 (sodium/phosphate cotransporter), member 1 gene (slc34a1, 182309.0001)

•

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

•

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

•

en:caused by mutation in the spermatogenesis-associated protein 16 gene (spata16, 609856.0001)

•

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

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0001)

•

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

•

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

•

en:caused by mutation in the interphotoreceptor matrix proteoglycan-1 gene (impg1, 602870)

•

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

•

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

•

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

•

en:caused by mutation in the alpha-fetoprotein gene (afp, 104150.0002)

•

en:caused by mutation in the angiotensin-converting enzyme gene (ace, 106180.0003)

•

en:caused by mutation in the ankyrin repeat domain-containing protein 11 gene (ankrd11, 611192.0001)

•

en:caused by mutation in the arylsulfatase e gene (arse, 300180.0001)

•

en:caused by mutation in the atlastin gtpase 3 gene (atl3, 609369.0001)

•

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

•

en:caused by mutation in the bbs10 gene (bbs10, 610148.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cardiac troponin i gene (tnni3, 191044.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coatomer protein complex, subunit alpha gene (copa, 601924.0001)

•

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

•

en:caused by mutation in the adaptor-related protein complex 4, beta-1 subunit gene (ap4b1, 607245.0001)

•

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

•

en:caused by mutations in the nf-kappa-b essential modulator gene (ikbkg, 300248.0001)

•

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

•

en:a contiguous gene syndrome caused by deletion of the stereocilin gene (strc, 606440) and the sperm-associated cation channel-2 gene (catsper2, 607249) gene

•

en:caused by chromosomal mosaicism

•

en:caused by complex genomic rearrangement resulting in misexpression of the paired-like homeodomain transcription factor-1 gene (pitx1, 602149)

•

en:caused by deletion of 539.77kb (grch37 chr8 77226464-77766239) on chromosome 8q21.11

•

en:caused by duplication of 0.25 to 1.08 mb on chromosome 5p13

•

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

•

en:caused by mutations in the follicle-stimulating hormone receptor gene (fshr, 136435.0008)

•

en:caused by mutations in the growth/differentiation factor-5 gene (gdf5, 601146.0006)

•

en:caused by mutations in the heat-shock 22-kd protein 8 gene (hspb8, 608014.0003)

•

en:caused by mutations in the mitofusin 2 gene (mfn2, 608507.0009)

•

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

•

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

•

en:caused by mutations in the plectin 1 gene (plec1, 601282.0005)

•

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

•

en:caused by mutations in the senataxin gene (setx, 608465.0001)

•

en:caused by mutations in the sh2 domain protein 1a gene (sh2d1a, 300490.0001)

•

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

•

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

•

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

•

en:caused by mutation in the 11-beta-hydroxysteroid dehydrogenase type 1 gene (hsd11b1, 600713.0002)

•

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

•

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

•

en:caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (hpd, 609695.0001)

•

en:caused by mutation in the codanin 1 gene (cdan1, 607465.0001)

•

en:caused by mutation in the coiled-coil and c2 domains-containing protein 2a gene (cc2d2a, 612013.0002)

•

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

•

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

•

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

•

en:caused by mutation in the glioma-inactivated leucine-rich 1 gene (lgi1, 604619.0001)

•

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

•

en:caused by mutation in the glycine cleavage system h protein gene (gcsh, 238330.0001)

•

en:caused by mutation in the h19 gene (h19, 103290.0002)

•

en:caused by mutation in the heparan-alpha-glucosaminide n-acetyltransferase gene (hgsnat, 610453.0001)

•

en:caused by mutation in the heparin cofactor ii gene (hcf2, 142360.0001)

•

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 the drosophila lines 1 gene (lins1, 610350.0001)

•

en:caused by mutation in the homolog of the mouse peripherin 2 gene (prph2, 179605.0001)

•

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

•

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

•

en:caused by mutation in the gamma-aminobutyric acid receptor, gamma-2 gene (gabrg2, 137164.0002)

•

en:caused by mutation in the immunoglobulin mu binding protein 2 gene (ighmbp2, 600502.0001)

•

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

•

en:caused by mutation in the integrin beta-6 gene (itgb6, 147558.0001)

•

en:caused by mutation in the interferon regulatory factor 7 gene (irf7, 605047.0001)

•

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

•

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

•

en:caused by mutation in the kelch-like 7 gene (klhl7, 611119.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gamma-1 actin gene (actg1, 102560.0009)

•

en:caused by mutation in the coiled-coil domain-containing protein 78 gene (ccdc78, 614666.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (cnga3, 600053.0001)

•

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

•

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

•

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

•

en:caused by mutation in the dedicator of cytokinesis 2 gene (dock2, 603122.0001)

•

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

•

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

•

en:caused by mutation in the dynactin 1 gene (dctn1, 601143.0006)

•

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

•

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

•

en:caused by mutation in the epithelial cellular adhesion molecule gene (epcam, 185535.0001)

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 1 gene (ercc1, 126380.0001)

•

en:caused by mutation in the family with sequence similarity 58, member a gene (fam58a, 300708.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0012)

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0028)

•

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

•

en:caused by mutation in the filamin a gene (flna, 300017.0025)

•

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

•

en:caused by mutation in the fras1 gene (fras1, 607830.0001)

•

en:a contiguous gene syndrome caused by deletion (160kb to 9mb) of 22q13.3

•

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

•

en:caused by a trinucleotide repeat expansion (cag)n in the huntingtin gene (htt, 613004.0001)

•

en:caused by mutation in the plectin 1 gene (plec1, 601282.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the platelet glycoprotein ix gene (gp9, 173515.0001)

•

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

•

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

•

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

•

en:caused by mutation in the protein phosphatase 2, structural/regulatory subunit a, alpha gene (ppp2r1a, 605983.0001)

•

en:caused by mutation in the proteolipid protein 1 gene (plp1, 300401.0012)

•

en:caused by mutation in the quinoid dihydropteridine reductase gene (qdpr, 612676.0001)

•

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

•

en:caused by mutation in the receptor expression-enhancing protein 2 gene (reep2, 609347.0001)

•

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

•

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

•

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

•

en:caused by mutation in the rho gtpase-activating protein 31 gene (arhgap31, 610911.0001)

•

en:caused by mutation in the ribonuclease t2 gene (rnaset2, 612944.0001).

•

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

•

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

•

en:caused by mutation in the ric-like protein without caax motif 1 gene (rit1, 609591.0001)

•

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

•

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

•

en:caused by mutation in the interferon regulatory factor-3 gene (irf3, 603734.0001)

•

en:caused by mutation in the inwardly rectifying potassium channel, subfamily j, member 6 gene (kcnj6, 600877.0001)

•

en:caused by mutation in the iq motif- and sec7 domain-containing protein 2 (iqsec2, 300522.0001)

•

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

•

en:caused by mutation in the keratin 5 gene (krt5, 148040.0002)

•

en:caused by mutation in the keratin 9 gene (krt9, 607606.0001)

•

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

•

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

•

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

•

en:caused by mutation in the lamin b2 gene (lmnb2, 150341.0005)

•

en:caused by mutation in the lmbr1 domain-containing protein 1 gene (lmbrd1, 612625.0001).

•

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

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0009)

•

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

•

en:caused by mutation in the matrix gla protein gene (mgp, 154870.0001)

•

en:caused by mutation in the mediator complex subunit 25 gene (med25, 610197.0003)

•

en:caused by mutation in the melanocortin-4 receptor gene (mc4r, 155541.0001)

•

en:caused by mutation in the microcephalin gene (mcph1, 607117.0001)

•

en:caused by mutation in the mitochondrial genome maintenance exonuclease 1 gene (mgme1, 615076.0001)

•

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

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0013)

•

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

•

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

•

en:caused by mutation in the ribosomal protein s26 gene (rps26, 603701.0001)

•

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

•

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

•

en:contiguous gene deletion syndrome caused by microdeletion (43-490kb) of chromosome 11q13

•

en:caused by mutation in the v-ha-ras harvey rat sarcoma viral oncogene homolog gene (hras, 190020.0017)

•

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

•

en:caused by mutation in the voltage-gated potassium channel, kqt-like subfamily, member 4 gene (kcnq4, 603537.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type viii, alpha subunit gene (scn8a, 600702.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the zinc finger protein, multitype-2 gene (zfpm2, 603693.0007)

•

en:caused by mutation in type ix collagen, alpha-2 polypeptide gene (col9a2, 120260.0001)

•

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

•

en:contiguous gene syndrome caused by deletion of chromosome xq21 including at least the rab escort protein 1 gene (chm, 300390) and the pou domain, class 3, transcription factor 4 gene (pou3f4, 300039)

•

en:caused by mutation in the transmembrane protein 231 gene (tmem231, 614949.0003)

•

en:contiguous gene syndrome involving deletions of the collagen, type iv, alpha-5 (col4a5, 303630) and collagen, type iv, alpha-6 (col4a6, 303631) genes

•

en:rare cases secondary to chromosome translocation

•

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

•

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

•

en:susceptibility conferred by mutation in the butyrophilin-like protein 2 gene (btnl2, 606000.0001)

•

en:susceptibility conferred by mutation in the ghrelin gene (ghrl, 605353.0001)

•

en:susceptibility conferred by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0013)

•

en:susceptibility conferred by mutation in the lysyl oxidase-like 1 gene (loxl1, 153456.0001)

•

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

•

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

•

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

•

en:caused by mutation in the troponin t1 gene (tnnt1, 191041.0001)

•

en:caused by mutation in the transmembrane protein 138 gene (tmem138, 614459.0001)

•

en:caused by mutation in the scavenger receptor class b, member 2 gene (scarb2, 602257.0001)

•

en:caused by mutation in the sprt-like n-terminal domain-protein gene (splrtn, 616086.0001)

•

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

•

en:caused by mutation in the sequestosome 1 gene (sqstm1, 601530.0001)

•

en:caused by mutation in the serine palmitoyltransferase, long-chain base subunit 2 gene (sptlc2, 605713.0001)

•

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

•

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

•

en:caused by mutation in the sodium channel, voltage-gated, type i, beta polypeptide gene (scn1b, 600235.0006)

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 gene (slc25a19, 606521.0002)

•

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

•

en:caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (slc34a2, 604217.0001)

•

en:caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (specc1l, 614140.0001)

•

en:caused by mutation in the sry-box 18 gene (sox18, 601618.0003)

•

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

•

en:caused by mutation in the steroid sulfatase gene (sts, 300747.0001)

•

en:caused by mutation in the succinate dehydrogenase complex, subunit d, integral membrane protein gene (sdhd, 602690.0029)

•

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

•

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

•

en:caused by mutation in the synaptic nuclear envelope protein 1 gene (syne2, 608442.0001).

•

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

•

en:caused by mutation in the tectonic family member 3 gene (tctn3, 613847.0006)

•

en:caused by mutation in the telomerase rna component gene (terc, 602322.0001)

•

en:caused by mutation in the thyroid hormone receptor interactor 11 gene (trip11, 604505.0001)

•

en:caused by mutation in the transformation gene erbb-3 (erbb3, 190151.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 3 gene (trpv3, 607066.0001)

•

en:caused by mutation in the interferon, alpha, beta, and omega, receptor 2 gene (irnar2, 602376.0002)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0023)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta-3 laminin gene (lamb3, 150130.001)

•

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

•

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

•

en:caused by mutation in the biogenesis of lysosome-related organelles complex 1, subunit 3 gene (bloc1s3, 609762.0001)

•

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

•

en:caused by mutation in the bone morphogenetic protein 2 gene (bmp2, 112261.0001)

•

en:caused by mutation in the c20orf7 gene (c20orf7, 612360.0002)

•

en:caused by mutation in the cadherin 3 gene (cdh3, 114021.0001)

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 6 dnase i hypersensitivity site 1 (dhs6s1, 616842.0001)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 111 gene (ccdc111, 615421.0001)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0001)

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0003)

•

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

•

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

•

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

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0002)

•

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

•

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

•

en:caused by mutation in the coproporphyrinogen oxidase gene (cpo, 612732.0001)

•

en:caused by mutations in the interleukin-2 receptor, gamma chain, gene (il2rg, 308380.0008)

•

en:caused by chromosome 14 paternal uniparental disomy

•

en:caused by mutation in the inducible costimulator gene (icos, 605448.0001)

•

en:caused by expanded cag trinucleotide repeats in the alpha-1a calcium channel subunit gene (cacna1a, 601011.0007)

•

en:caused by mutations in cartilage oligomeric matrix protein (comp, 600310.0001)

•

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

•

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

•

en:caused by mutations in the cartilage-derived morphogenetic protein-1 gene (cdmp1, 601146.0005)

•

en:caused by mutations in the cellular retinaldehyde-binding protein-1 gene (rlbp1, 180090.0004)

•

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

•

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

•

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

•

en:caused by mutations in the nad(p)h steroid dehydrogenase-like protein gene (nsdhl, 300275.0001)

•

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

•

en:caused by mutations in the neurofibromin gene (nf1, 162200.0010)

•

en:caused by mutations in the otoferlin gene (otof, 603681.0001)

•

en:caused by mutations in the parafibromin gene (hrpt2, 607393.0001)

•

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

•

en:caused by mutations in the torsion dystonia-1 gene (dyt1, 605204.0001).

•

en:caused by mutation in a disintegrin-like and metalloproteinase with thrombospondin type 1 motif, 10 gene (adamts10, 608990.0001)

•

en:caused by mutation in cartilage oligomeric matrix protein (comp, 600310.0005)

•

en:caused by mutation in establishment of cohesion 1, s. cerevisiae, homolog of, 2 gene ( esco2, 609353.0004)

•

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

•

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

•

en:caused by mutation in the ankyrin repeat and sterile alpha motif domains-containing protein gene 6 (anks6, 615370.0001)

•

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

•

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

•

en:caused by mutation in the creatine transporter gene (slc6a8, 300036.0001)

•

en:caused by mutation in the homolog of the drosophila orthodenticle 2 gene (otx2, 600038.0001)

•

en:caused by mutation in the glutamine:fructose-6-phosphate aminotransferase 1 gene (gfpt1, 138292.0001)

•

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

•

en:caused by mutation in the guanylate cyclase 2c gene (gucy2c, 601330.0001)

•

en:caused by mutation in the hippocalcin gene (hpca, 142622.0001)

•

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

•

en:caused by mutation in the homeobox (h6 family) 1 gene (hmx1, 142992.0001)

•

en:caused by mutation in the homeobox d13 gene (hoxd13, 142989.0008).

•

en:caused by mutation in the homolog of drosophila sprouty-4 gene (spry4, 607984.0001)

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 27 gene (ift27, 615870.0001)

•

en:caused by mutation in the homolog of the chlamydomonas radial spoke head, 3 gene (rsph3, 615876.0001)

•

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

•

en:caused by mutation in the gene encoding tropomyosin-1 (tpm1, 191010.0004)

•

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

•

en:caused by mutation in the homolog of the mouse acd gene (acd, 609377.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae coq7 gene (coq7, 601683.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae iba57 gene (iba57, 615316.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae mitochondrial translation optimization 1 gene (mto1, 614667.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae pet100 gene (pet100, 614770.0001).

•

en:caused by mutation in the hypocretin gene (hcrt, 602358.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gene encoding growth/differentiation factor-2 (gdf2, 605120.0001)

•

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

•

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

•

en:caused by mutation in the dynactin-1 gene (dctn1, 601143.0001)

•

en:caused by mutation in the dysferlin gene (dys, 603009.0001)

•

en:caused by mutation in the dystonin gene (dst, 113810.0002)

•

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

•

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

•

en:caused by mutation in the eosinophil peroxidase gene (epx, 131399.0001)

•

en:caused by mutation in the excision-repair cross-complementing group 3 gene (ercc3, 133510.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fermitin family (drosophila) homolog 3 gene (fermt3, 607901.0001)

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0040)

•

en:caused by mutation in the fibroblast growth factor-10 gene (fgf10, 602115.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fucosyltransferase-1 gene (fut1, 211100.0001)

•

en:caused by mutation in the dehydrogenase e1 and transketolase domains-containing protein 1 (dhtkd1, 614984.0004)

•

en:caused by mutation in the fyve, rhogef, and ph domain-containing protein-4 gene (fgd4, 611104.0001)

•

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

•

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

•

en:caused by mutation in the alpha-5 gap junction protein gene (gja5, 121013.0001)

•

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

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0012)

•

en:caused by mutation in the alpha-b-crystallin gene (cryab, 123590.0001)

•

en:caused by mutation in the anthrax toxin receptor 2 gene (antxr2, 608041.0001)

•

en:caused by mutation in the beta-1 galactosidase gene (glb1, 611458.0001)

•

en:caused by mutation in the apolipoprotein c-ii gene (apoc2, 608083.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0024)

•

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

•

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

•

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

•

en:caused by mutations in the lim homeo box transcription factor 1, beta gene (lmx1b, 602575.0001)

•

en:caused by mutation in the budding uninhibited by benzimidazoles 1 beta gene (bub1b, 602860.0003)

•

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

•

en:caused by mutations in the midline 1 gene (mid1, 300000.0001)

•

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

•

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

•

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

•

en:caused by mutation in the aldolase b, fructose-bisphosphate gene (aldob, 612724.0001)

•

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

•

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

•

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

•

en:caused by mutation in the acylglycerol kinase gene (agk, 610345.0001)

•

en:caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene (ap4e1, 607244.0001)

•

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

•

en:caused by mutation in the brain-derived neurotrophic factor gene (bdnf, 113505.0001)

•

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

•

en:caused by mutation in the cadherin 23 gene (cdh23, 605516.0001)

•

en:caused by mutation in the cysteine-rich acidic secreted-protein gene (sparc, 182120.0001)

•

en:caused by mutation in the doublecortin domain-containing protein 2 gene (dcdc2, 605755.0004)

•

en:caused by mutations in the 1-acylglycerol-3-phosphate o-acyltransferase 2 gene (agpat2, 603100.0001).

•

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

•

en:caused by mutation in the dna polymerase-gamma gene (polg, 174763.0002)

•

en:caused by mutation in the dna helicase, recq-like, type 4 gene (recql4, 603780.0012)

•

en:caused by mutation in the dishevelled 1 gene (dvl, 601365.0001)

•

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

•

en:caused by mutation in the dihydrofolate reductase gene (dhfr, 126060.0001)

•

en:caused by mutation in the dead box polypeptide 59 gene (ddx59, 615464.0001)

•

en:caused by mutation in the dead/h box 3, x-linked gene (ddx3x, 300160.0001)

•

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

•

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

•

en:caused by mutation in the cytochrome p450, family 4, subfamily v, polypeptide-2 gene (cyp4v2, 608614.0001)

•

en:caused by mutation in the cytochrome p450, family 2, subfamily u, polypeptide 1 gene (cyp2u1, 610670.0001)

•

en:caused by mutation in the cystatin a gene (csta, 184600.0001)

•

en:caused by mutation in the carbohydrate sulfotransferase 3 gene (chst3, 603799.0001)

•

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

•

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

•

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

•

en:caused by mutation in the complement component-8, alpha polypeptide gene (c8a, 120950.0002)

•

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

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0007)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 22 gene (ccdc22, 300859.0001)

•

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

•

en:caused by mutation in the chromatin-modifying protein 2b (chmp2b, 609512.0001)

•

en:caused by mutation in the chondroitin sulfate proteoglycan-2 gene (cspg2, 118661.0001)

•

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

•

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

•

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

•

en:caused by mutations in the emopamil-binding protein gene (ebp, 300205.0006)

•

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

•

en:caused by imprinting defect on chromosome 14q32

•

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

•

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

•

en:caused by mutation in the teneurin transmembrane protein 4 gene (tenm4, 610084.0001)

•

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

•

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

•

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

•

en:caused by mutation in the synaptosomal-associated protein, 25-kd gene (snap25, 600322.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 gene (smarcad1, 612761.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily 1, member 1 gene (smarce1, 603111.0002).

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0002)

•

en:caused by mutation in the surfactant pulmonary-associated protein c gene (sftpc, 178620.0001)

•

en:caused by mutation in the sterol 3-beta-hydroxysteroid-delta-5-desaturase gene (sc5dl, 602286.0001)

•

en:caused by mutation in the spectrin beta-1 gene (sptb, 182870.0010)

•

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

•

en:caused by mutation in the somatic cytochrome c gene (cycs, 123970.0001)

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily m, member 6 gene (trpm6, 607009.0001)

•

en:caused by mutation in the solute carrier family 20 (phosphate transporter), member 2 gene (slc20a, 158378.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type iv, alpha subunit gene (scn4a, 603967.0018)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the seipin gene (bscl2, 606158.0017)

•

en:caused by mutation in the s. cerevisiae homolog of the required for meiotic nuclear division 1 gene (rmnd1, 614917.0001)

•

en:caused by mutation in the rp1-like protein 1 gene (rp1l1, 608581.0001)

•

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

•

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

•

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

•

en:caused by mutation in the retinoic acid-induced gene 1 (rai1, 607642.0004)

•

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

•

en:caused by mutation in the thyroid hormone receptor interactor 4 gene (trip4, 604501.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0002)

•

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

•

en:caused by somatic mutation in the beta-1 catenin gene (ctnnb1, 116806.0006)

•

en:a contiguous gene deletion syndrome caused by deletion (5.8 mb) of chromosome 15q26-qter encompassing the igf1r gene (147370)

•

en:molecular basis

•

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

•

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 solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0004)

•

en:susceptibility conferred by mutation in the proopiomelanocortin gene (pomc, 176830.0001)

•

en:susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (nod2, 605956.0001)

•

en:susceptibility conferred by mutation in the adaptor protein, phosphotyrosine interaction, ph domain, and leucine zipper-containing protein-1 gene (appl1, 604299.0001)

•

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

•

en:due to hemizygous deletion of 4p16.3

•

en:contiguous gene syndrome caused by deletion of 3.2mb deletion on 8q22.1

•

en:contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between bp1 and bp2 on 15q11.2

•

en:contiguous gene deletion of 91.6 kb to 4.74 mb on chromosome 16p13.2

•

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 transmembrane protein 231 gene (tmem231, 614949.0001)

•

en:caused by mutation or trinucleotide repeat expansion (gaa)n in the frataxin gene (fxn, 606829.0001)

•

en:caused by mutation in tumor protein p53 (tp53, 191170.0001)

•

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

•

en:caused by mutation in the zinc finger protein 41 gene (znf41, 314995.0001)

•

en:caused by mutation in the zinc finger protein 408 gene (znf408, 616454.0001)

•

en:caused by mutation in the zinc finger e box-binding homeobox 2 gene (zeb2, 605802.0001)

•

en:caused by mutation in the whirlin gene (whrn, 607928.0002)

•

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

•

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

•

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

•

en:caused by mutation in the tyrosine hydroxylase gene (th, 191290.0001).

•

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

•

en:caused by mutation in the trk-fused gene (tfg, 602498.0002)

•

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

•

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

•

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

•

en:caused by mutation in the endothelin-converting enzyme-like 1 gene (ecel1, 605896.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the snf2-related cbp activatory protein gene (srcap, 611421.0001)

•

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

•

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

•

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

•

en:caused by mutation in the sas6, c. elegans, homolog of, gene (sass6, 609321.0001)

•

en:caused by mutation in the rotatin gene (rttn, 610436.0001)

•

en:caused by mutation in the ribonuclease h1 gene (rnaseh1, 604123.0001)

•

en:caused by mutation in the retinal rod photoreceptor cgmp phosphodiesterase, beta subunit gene (pde6b, 180072.0001)

•

en:caused by mutation in the rab6-interacting golgin gene (gorab, 607893.0001)

•

en:caused by mutation in the purinergic receptor p2y, g protein-coupled, 12 gene (p2ry12, 600515.0001)

•

en:caused by mutation in the pten-induced putative kinase-1 gene (pink1, 608309.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (pstpip1, 606347.0001)

•

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

•

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

•

en:caused by mutation in the potassium channel, inwardly rectifying, subfamily j, member 10 gene (kcnj10, 602208.0001)

•

en:caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (pnkp, 605610.0002)

•

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

•

en:caused by mutation in the polyadenylate-specific ribonuclease gene (parn, 604212.0006)

•

en:caused by mutation in the pogo transposable element with znf domain gene (pogz, 614787.0001)

•

en:caused by mutation in the plastin 3 gene (pls3, 300131.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 35 (udp-n-acetylglucosamine transporter), member 3 gene (slc35a3, 605632.0001)

•

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

•

en:caused by mutation in the v-raf murine sarcoma viral oncogene homolog b1 gene (braf, 164757.0024)

•

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

•

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

•

en:susceptibility conferred by somatic mutation in the calreticulin gene (calr, 109091.0001)

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

en:susceptibility conferred by mutation in the homolog of the s. pombe checkpoint kinase 2 gene (chek2, 604373.0007)

•

en:mutation in the axis inhibitor 2 gene (axin2, 604025.0003)

•

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

•

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

•

en:conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (dstyk, 612666.0001)

•

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

•

en:caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0004)

•

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

•

en:caused by mutation of the dpy19-like 2 gene (dpy19l2, 613893.0001)

•

en:caused by mutation in the zinc finger c4h2 domain-containing protein gene (zc4h2, 300897.0001)

•

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

•

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

•

en:caused by mutation in the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

•

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

•

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

•

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

•

en:caused by mutation in the tumor protein p53 gene (tp53, 191170.0036)

•

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 11b gene (tnfrsf11b, 602643.0001)

•

en:caused by mutation in the tubulin beta-1 gene (tubb1, 612901.0001).

•

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

•

en:caused by mutation in the transcobalamin ii gene (tcn2, 613441.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gene encoding alpha-b crystallin (cryab, 123590.0002)

•

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 fig4 gene (fig4, 609390.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0001)

•

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

•

en:caused by mutation in the homolog of the mouse noggin gene (nog, 602991.0003)

•

en:caused by mutation in the homolog of the e. coli mutl 1 gene (mlh1, 120436.0006)

•

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

•

en:caused by mutation in the homolog of the drosophila bicaudal d, 2 gene (bicd2, 609797.0001)

•

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

•

en:caused by mutation in the heat-shock 27-kd protein 1 gene (hspb1, 602195.0001)

•

en:caused by mutation in the gtp cyclohydrolase 1 gene (gch1, 600225.0017)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gamma-1 actin gene (actg1, 102560.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0015)

•

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

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0001)

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 121050.0001)

•

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

•

en:caused by mutation in the family with sequence similarity 20, member c gene (fam20c, 611061.0001)

•

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

•

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

•

en:caused by mutation in the estrogen-related receptor, beta gene (esrrb, 602167.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the origin recognition complex, subunit 1, gene (orc1, 601902.0001)

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 3 gene (ndufs3, 603846.0001)

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 beta subcomplex 9 gene (ndufb9, 601445.0001)

•

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

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex, assembly factor 3 gene (ndufaf3, 612911.0001)

•

en:caused by mutation in the myotubularin gene (mtm1, 300415.0001).

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0022)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial lon peptidase-1 gene (lonp1, 605490.0001)

•

en:caused by mutation in the interleukin receptor gamma chain gene (il2rg, 308380.0001)

•

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

•

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

•

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

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0001)

•

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

•

en:caused by mutation in the keratin 81 gene (krt81, 602153.0001)

•

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

•

en:caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (lztr1, 600574.0001)

•

en:caused by mutation in the mevalonate pyrophosphate decarboxylase gene (mvd, 603236.0001)

•

en:caused by mutation in the light polypeptide neurofilament protein gene (nefl, 162280.0001)

•

en:caused by mutation in the lim and senescent cell antigen-like domains 2 gene (lims2, 607908.0001)

•

en:caused by mutation in the luteinizing hormone beta-polypeptide gene (lhb, 152780.0001)

•

en:caused by mutation in the malin gene (nhlrc1, 608072.0001)

•

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

•

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

•

en:caused by mutation in the reelin gene (reln, 600514.0003)

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9089002 • caches: c1=6 c2=1002 c3=1

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