Diko : en:caused by mutation in the transmembrane anterior posterior transformation-1 gene (tapt1, 612758.0001)

en:caused by mutation in the transmembrane anterior posterior transformation-1 gene (tapt1, 612758.0001)

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Langue:anglais

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source:wiki

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umls:C4227466

Associations d'idées

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1000

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

•

en:caused by mutation in the kinesin heavy chain member 2a (kif2a, 602591.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calcium channel, voltage-dependent, alpha-1f subunit gene (cacna1f, 300110.0007)

•

en:caused by mutation in the dysferlin gene (dysf, 603009.0003)

•

en:caused by mutation in the enhancer of mrna decapping 3, s. cerevisiae, homolog of, gene (edc3, 609842.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the insulin-like growth factor-ii gene (igf2, 147470.0004)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the rpgrip1-like gene (rpgrip1l, 610937.0005).

•

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

•

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

•

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

•

en:caused by mutation in the gene encoding interleukin 10 receptor, beta (il10rb, 123889.0002)

•

en:caused by mutations in the cyclin-dependent kinase inhibitor 2a gene (cdkn2a, 600160.0001)

•

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 dynactin 1 gene (dctn1, 601143.0002)

•

en:susceptibility conferred by mutation in the breast cancer 2 gene (brca2, 600185.0001)

•

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 tolloid-like 1 gene (tll1, 606742.0001)

•

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

•

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

•

en:caused by mutation in the nephrin gene (nphs1, 602716.0001)

•

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

•

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

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0003)

•

en:caused by mutation in the regulatory factor x, 5 gene (rfx5, 601863.0001)

•

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

•

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

•

en:caused by mutation in the post-gpi attachment to proteins 1 gene (pgap1, 611655.0001)

•

en:caused by mutation in microrna 184 gene (mir184, 613146.0001)

•

en:caused by mutation in the myotubularin gene (mtm1, 300415.0001).

•

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

•

en:caused by mutation in the g-protein, alpha-stimulating 1 gene (gnas1, 139320.0035)

•

en:caused by mutation in the fibroblast growth factor receptor 2 gene (fgfr2, 176943.0002)

•

en:caused by mutation in the calcium- and integrin-binding protein 2 gene (cib2, 605564.0004)

•

en:caused by mutation in the alpha-subunit of the type iv voltage-gated sodium channel gene (scn4a, 603967.0003)

•

en:caused by mutation in the alpha-2 subunit of collagen type ix gene (col9a2, 120260.0006)

•

en:caused by mutations in the leukemia inhibitory factor receptor gene (lifr, 151443.0001)

•

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

•

en:caused by mutation in the alpha-n-acetylglucosaminidase gene (naglu, 609701.0015)

•

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

•

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

•

en:caused by mutation in the endoglin gene (eng, 131195.0001)

•

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

•

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

•

en:caused by mutation in the translational activator of mitochondrially encoded cytochrome c oxidase subunit 1 gene (taco1, 612958.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 5 (sodium iodide symporter), member 5 gene (slc5a5, 601843.0001)

•

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

•

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

•

en:susceptibility conferred by mutation in the voltage-dependent calcium channel, l type, alpha-1s subunit gene (cacna1s, 114208.0005)

•

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

•

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

•

en:caused by mutation in the nuclear receptor subfamily 0, group b, member 2 gene (nr0b2, 604630.0001)

•

en:caused by mutation in the nuclear factor of kappa light chain gene enhancer in b cells inhibitor alpha gene (nfkbia, 164008.0001).

•

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

•

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

•

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

•

en:caused by mutation in the human homolog of the s. cerevisiae sil1 gene (608005.0001)

•

en:caused by mutation in the family with sequence similarity 20, member a gene (fam20a, 611062.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the signal transducer and activator of transcription-3 gene (stat3, 102582.0001)

•

en:caused by mutation in the solute carrier family 6 (neurotransmitter transporter, gaba), member 1 gene (slc6a1, 137165.0001)

•

en:caused by mutation in the taperin gene (tprn, 613354.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen, type iv, alpha-4 gene (col4a4, 120131.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the superoxide dismutase-1 gene (sod-1, 147450.0001) susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (nefh, 162230.0001)

•

en:caused by mutation in the prenyl diphosphate synthase, subunit 2 gene (pdss2, 610564.0001)

•

en:caused by mutations in the 17-beta-hydroxysteroid dehydrogenase iv gene (hsd17b4, 601860.0001)

•

en:caused by mutation in the paired box gene 9 (pax9, 176416)

•

en:caused by mutation in the micro rna 2861 gene (mir2861, 613405.0001)

•

en:caused by mutation in the keratin 5 gene (krt5, 148040.0003)

•

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

•

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

•

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

•

en:caused by mutation in the collagen v, alpha-2 polypeptide gene (col5a2, 120190.0001)

•

en:caused by mutation in the collagenic tail of endplate acetylcholinesterase gene (colq, 603033.0001)

•

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

•

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

•

en:caused by mutation in the ameloblastin gene (ambn, 601259.0001)

•

en:caused by mutation in the alpha-mannosidase gene (man2b1, 609458.0001)

•

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

•

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

•

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

•

en:caused by mutation in the rb1 gene (rb1, 614041.0001)

•

en:contiguous gene syndrome involving deletion of 2.63 mb on chromosome 5q12

•

en:caused by somatic mutation in the phosphatidylinositol glycan, class a gene (piga, 311770.0001)

•

en:caused by mutation in the wd-repeat containing protein 34 gene (wdr34, 613363.0001)

•

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

•

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 dj1 gene (602533.0001)

•

en:caused by mutation in the potassium channel tetramerization domain-containing protein 17 gene (kctd17, 616386.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the caspase 10 gene (casp10, 601762.0001)

•

en:susceptibility conferred by mutation in the proopiomelanocortin gene (pomc, 176830.0001)

•

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

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0023)

•

en:caused by mutation in the microtubule-associated protein tau gene (mapt, 157140.0019)

•

en:caused by mutation in the angiotensin ii receptor type 1 gene (agtr1, 106165.0003)

•

en:caused by mutation in the reelin gene (reln, 600514.0003)

•

en:caused by mutation in the prion protein gene (prnp, 176640.0002)

•

en:caused by mutation in the myosin, heavy chain 2, adult skeletal muscle gene (myh2, 160740.0001)

•

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

•

en:caused by mutation in the periaxin gene (prx, 605725.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport-43 gene (itf43, 614068.0001)

•

en:caused by mutation in the collagen, type xxv, alpha-1 gene (col25a1, 610004.0001)

•

en:caused by mutation in the beta-1,4-galactosyltransferase gene (b4galt1, 137060.0001).

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 9 gene (abcc9, 601439.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the post-gpi attachment to proteins 3 gene (pgap3, 611801.0001)

•

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

•

en:caused by mutation in the otogelin gene (otog, 604487.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the mouse mpv17 gene (mpv17, 136960.0001)

•

en:caused by mutation in the glycogen branching enzyme gene (gbe1, 607839.0001)

•

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

•

en:caused by mutation in the cytochrome p450 subfamily xib, polypeptide 2 gene (cyp11b2, 124080.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the c4orf26 gene (c4orf26, 614829.0001)

•

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

•

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

•

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

•

en:caused by mutation in the sulfatase-modifying factor 1 gene (sumf1, 607939.0001)

•

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

•

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

•

en:conferred by mutation in the dual serine/threonine and tyrosine protein kinase gene (dstyk, 612666.0001)

•

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

•

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

•

en:caused by mutation in the serine protease inhibitor, kazal-type-1 gene (spink1, 167790.0001)

•

en:caused by mutation in the rp1-like protein 1 gene (rp1l1, 608581.0001)

•

en:caused by mutation in the paired-like homeobox 2b gene (phox2b, 603851.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila bagpipe homeobox gene (nkx3-2, 602183.0001)

•

en:caused by mutation in paired box gene-1 (pax1, 167411.0001)

•

en:caused by mutation in the hepatocyte nuclear factor 4-alpha gene (hnf4a, 600281.0008)

•

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

•

en:caused by mutation in the telethonin gene (tcap, 604488.0001).

•

en:caused by somatic mutation in the harvey rat sarcoma viral (v-ha-ras) oncogene homolog gene (hras, 190020.0001)

•

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

•

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

•

en:caused by mutation in the complex iv, cytochrome c oxidase subunit i gene (mtco1, 516030.0001)

•

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

•

en:caused by mutation in the glypican 6 gene (gpc6, 604404.0001)

•

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

•

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

•

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

•

en:caused by mutation in the opa1 gene (opa1, 605290.0011)

•

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

•

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

•

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

•

en:caused by mutation in the c-type lectin domain family 7, member a gene (clec7a, 606264.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0015)

•

en:caused by mutation in the endothelin receptor type a gene (ednra, 131243.0002)

•

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

•

en:caused by mutation in the coiled-coil-helix-coiled-coil helix domain-containing protein 10 gene (chchd10, 615903.0001)

•

en:caused by mutation in the breast cancer type 2 gene (brca2, 600185.0001)

•

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

•

en:caused by heterozygous mutation in the titin gene (ttn, 188840.0004)

•

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

•

en:caused by mutation in the slow-type myosin-binding protein-c gene (mybpc1, 160794.0003)

•

en:caused by mutations in the seipin gene (bscl2, 606158.0001).

•

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

•

en:caused by mutation in the homolog of chlamydomonas intraflagellar transport 172 gene (ift172, 607386.0001)

•

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 xenotropic and polytropic retrovirus receptor gene (xpr1, 605237.0001)

•

en:caused by mutation in the voltage-gated sodium channel, type ix, alpha subunit gene (scn9a, 603415.0005)

•

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

•

en:caused by mutation in the synaptic ras gtpase activating protein 1 gene (syngap1, 603384.0001)

•

en:caused by mutation in the phosphoglucomutase-1 gene (pgm1, 171900.0001)

•

en:caused by mutation in the peroxisome biogenesis factor 5 gene (pex5, 600414.0003)

•

en:caused by mutation in the solute carrier family 16 (monocarboxylic acid transporter), member 1 (slc16a1, 600682.0005)

•

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

•

en:caused by mutation in the epidermal growth factor receptor pathway substrate 8 gene (eps8, 600206.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by a (cctg)n repeat expansion in the zinc finger protein 9 gene (znf9, 116955.0001)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0009)

•

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

•

en:caused by mutation in the sh3 domain-binding protein-2 gene (sh3bp2, 602104.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 35 gene (vps35, 601501.0001)

•

en:caused by mutation in the endothelin 3 (edn3, 131242.0003)

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily a, member 1 gene (trpa1, 604775.0001)

•

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

•

en:caused by mutation in the atpase type 13a2 gene (atp13a2, 610513.0001)

•

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

•

en:caused by mutation in the adenosine monophosphate deaminase-2, isoform l gene (ampd2, 102771.0001)

•

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

•

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

•

en:caused by imprinting defect on chromosome 14q32

•

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

•

en:caused by mutation in the tafazzin gene (taz, 300394.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the zinc finger and btb-domain containing 20 gene (zbtb20, 606025.0001)

•

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

•

en:caused by mutation in the tropomyosin 3 gene (tpm3, 191030.0005)

•

en:caused by mutation in the tetraspanin-12 gene (tspan12, 613138.0001)

•

en:caused by mutation in the succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 600857.0005)

•

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

•

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

•

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

•

en:caused by mutation in the neutrophil-expressed elastase gene (elane, 130130.0006)

•

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

•

en:caused by mutation in the interferon induced with helicase c domain 1 gene (ifih1, 606951.0009)

•

en:caused by mutation in the homolog of the s. cerevisiae minichromosome maintenance 4 gene (mcm4, 602638.0001)

•

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

•

en:caused by mutations in the ceruloplasmin gene (cp, 117700.0001).

•

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

•

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

•

en:caused by mutation in the adamts-like 4 gene (adamtsl4, 610113.0003)

•

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

•

en:caused by duplication of 120-527kb on 17p13.3

•

en:linked to locus at 17q12-q21.

•

en:caused by mutation in the sparc-related modular calcium-binding 1 gene (smoc1, 608488.0001)

•

en:caused by mutation in the rotatin gene (rttn, 610436.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the wilms tumor 1 gene (wt1, 607102.0018).

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atp synthase f1 complex assembly factor-2 gene (atpaf2, 608918.0001)

•

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

•

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

•

en:caused by mutation in the beta-1,4-n-acetylgalactosaminyltransferase 1 gene (b4galnt1, 601873.0001)

•

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

•

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

•

en:caused by mutation in the wilms tumor 1 gene (wt1, 607102.0003).

•

en:caused by mutation in the transmembrane protein 199 gene (tmem199, 616815.0001)

•

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

•

en:caused by mutation in the tubulin beta-1 gene (tubb1, 612901.0001).

•

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

•

en:caused by mutation in the janus kinase 2 gene (jak2, 147796.0001)

•

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

•

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

•

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

•

en:caused by mutation in the desmoglein 4 gene (dsg4, 607892.0001)

•

en:caused by mutation in the leucine-rich repeat-containing protein 50 gene (lrrc50, 613190.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 inwardly-rectifying channel, subfamily j, member 11 gene (kcnj11, 600937.0012)

•

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

•

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 proline/serine/threonine phosphatase-interacting protein 1 (pstpip1, 606347.0001)

•

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

•

en:caused by mutation in the prosaposin gene (psap, 176801.0005)

•

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

•

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

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 1 gene (rab3gap1, 602536.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nonimprinted gene in prader-willi syndrome/angelman syndrome chromosome region-1 (nipa1, 608145.0001)

•

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

•

en:caused by mutation in the natriuretic peptide receptor 2 gene (npr2, 108961.0008)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the kinesin family member 1a gene (kif1a, 601255.0002)

•

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

•

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

•

en:caused by mutation in the laminin beta-3 gene (lamb3, 150310.0001)

•

en:caused by mutation in the latent transforming growth factor beta binding protein-3 gene (ltbp3, 602090.0001)

•

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 8 gene (ndufs8, 602141.0001)

•

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

•

en:caused by mutation in the lyr motif-containing protein 4 gene (lyrm4, 613311.0001)

•

en:caused by mutation in the major facilitator superfamily domain-containing protein-8 gene (mfsd8, 611124.0008)

•

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

•

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

•

en:caused by mutation in the microtubule-associated tau protein gene (mapt, 157140.0011)

•

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

•

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

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 beta subcomplex 9 gene (ndufb9, 601445.0001)

•

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

•

en:caused by mutation in the v-ki-ras2 kirsten rat sarcoma 2 viral oncogene homolog gene (kras, 190070.0009)

•

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

•

en:caused by tandem duplication of the urinary plasminogen activator gene (plau, 191840.0002)

•

en:caused by mutation in the interphotoreceptor matrix proteoglycan-2 gene (impg2, 607056.0005)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the x-linked small muscle protein gene (smpx, 300226.0001)

•

en:caused by mutation in tumor protein p53 (tp53, 191170.0001)

•

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

•

en:caused by somatic mutation in the beta-1 catenin gene (ctnnb1, 116806.0006)

•

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

•

en:caused by mutation in the tumor protein p63 gene (tp63, 603273.0001)

•

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

•

en:contiguous gene deletion syndrome caused by deletion (3.5mb) of 1q32-q44

•

en:contiguous gene deletion syndrome caused by deletion of 300 to 500 kb between bp1 and bp2 on 15q11.2

•

en:linked to a locus at 16q.

•

en:mutation in the filamin b gene (flnb, 603381)

•

en:susceptibility conferred by deletion that includes the complement factor h-related 1 gene (cfhr1, 134371.0001) and complement factor h-related 3 gene (cfhr3, 605366.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ush3a gene (ush3a, 606397.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate carrier) member 26 gene (slc25a26, 611037.0001)

•

en:caused by mutation in the rna polymerase iii, subunit a gene (polr3a, 614258.0001)

•

en:caused by mutation in the s. cerevisiae, homolog of iba57 gene (iba57, 615316.0002)

•

en:caused by mutation in the sal-like 4 gene (sall4, 607343.0013)

•

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

•

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

•

en:caused by mutation in the serpin peptidase inhibitor, clade b (ovalbumin), member 7 gene (serpinb7, 603357.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 gene (smarca4, 603254.0001)

•

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

•

en:caused by mutation in the t-box 18 gene (tbx18, 604613.0001)

•

en:caused by mutation in the t-box 4 gene (tbx4, 601719.0001)

•

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

•

en:caused by mutation in the thioredoxin domain-containing 3 gene (txndc3, 607421.0001)

•

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

•

en:caused by mutation in the titin gene (ttn, 188840.0004)

•

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

•

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

•

en:caused by mutation in the interleukin-1 receptor antagonist gene (il1rn, 147679.0002)

•

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

•

en:caused by mutation in the beta-1,4-mannosyltransferase gene (alg1, 605907.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calcium-binding protein-4 gene (cabp4, 608965.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cereblon gene (crbn, 609262.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cln6 gene (cln6, 606725.0001)

•

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

•

en:caused by mutation in the bcs1, s. cerevisiae, homolog-like gene (bcs1l, 603647.0008)

•

en:caused by mutation in the atp synthase, h+ transporting, mitochondrial f1 complex, alpha subunit 1 gene (atp5a1, 164360.0002)

•

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

•

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

•

en:balanced reciprocal translocation between chromosomes x and 15

•

en:caused by a trinucleotide repeat expansion (ctg)n in the transcription factor-4 gene (tcf4, 602272.0007)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (cftr, 602421.0005)

•

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

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily d, member 1 gene (abcd1, 300371.0001)

•

en:caused by mutations in treacle gene (tcof1, 154500.0001)

•

en:caused by mutation in the 104-kd centrosomal protein gene (cep104, 616690.0001)

•

en:caused by mutation in the 19-kd lens intrinsic membrane protein-2 gene (lim2, 154045.0001)

•

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

•

en:caused by mutation in the aicar formyltransferase/imp cyclohydrolase gene (atic, 601731.0001)

•

en:caused by mutation in the alpha-1 type xvii collagen gene (col17a1, 113811.0015)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily a, member 12 gene (abca12, 607800.0001)

•

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

•

en:caused by mutation in the collagen and calcium-binding egf domain-containing protein 1 gene (ccbe1, 612753.0001)

•

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

•

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

•

en:caused by mutation in the heparin-alpha-glucosaminide n-acetyltransferase gene (hgsnat, 610453.0011)

•

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

•

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

•

en:caused by mutation in the gene encoding member a9 of the basic helix-loop-helix family (bhlha9, 615416.0001)

•

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

•

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

•

en:caused by mutation in the g protein-coupled receptor-179 gene (gpr179, 614515.0001)

•

en:caused by mutation in the h19 gene (h19, 103280.0001)

•

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

•

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

•

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

•

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

•

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 drosophila atonal 7 gene (atoh7, 609875.0001)

•

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 coq2 gene (coq2, 609825.0001)

•

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

•

en:caused by mutation in the human homolog of the drosophila 'patched' gene 2 (ptch2, 603673.0003)

•

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

•

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

•

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

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606598.0002)

•

en:caused by mutation in the gamma-2 laminin gene (lamc2, 150292.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the complex i, subunit nd6 gene (mtnd6, 516006.0001)

•

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

•

en:caused by mutation in the cytochrome c1 gene (cyc1, 123980.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the endoplasmic reticulum membrane-associated rna degradation protein gene (ermard, 615532.0001)

•

en:caused by mutation in the epididymal secretory protein he1 gene (npc1, 601015.0001)

•

en:caused by mutation in the epsilon-sarcoglycan gene (sgce, 604149.0001)

•

en:caused by mutation in the estrogen-related receptor, beta gene (esrrb, 602167.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the plectin 1 gene (plec1, 601282.0010)

•

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

•

en:caused by mutation in the protein kinase, amp-activated, noncatalytic, gamma-2 gene (prkag2, 602743.0007)

•

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

•

en:caused by mutation in the pyrin gene (mefv, 608107.0018)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the interphotoreceptor matrix proteoglycan 2 gene (impg2, 607056.0001)

•

en:caused by mutation in the k(lysine) acetyltransferase 6a gene (kat6a, 601408.0001)

•

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

•

en:caused by mutation in the lem domain-containing-3 gene (lemd3, 607844.0001)

•

en:caused by mutation in the leucine-rich ppr motif-containing protein gene (lrpprc, 607544.0001)

•

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 zipper transcription factor-like 1 gene (lztfl1, 606568.0001)

•

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

•

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

•

en:caused by mutation in the mds1 and evi1 complex locus gene (mecom, 165215.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0001)

•

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

•

en:caused by mutation in the membrane-bound transcription factor protease, site 2 gene (mbtps2, 300294.0001)

•

en:caused by mutation in the methionyl-trna synthetase gene (mars, 156560.0001)

•

en:caused by mutation in the microtubule-associated tau protein gene (mapt, 157140.0001)

•

en:caused by mutation in the mitochondrial acetoacetyl-coa thiolase gene (acat1, 607809.0001)

•

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, heavy chain 9, non-muscle gene (myh9, 160775.0005)

•

en:caused by mutation in the ras p21 protein activator 1 gene (rasa1, 139150.0004)

•

en:caused by mutation in the receptor for the fc fragment of igg, low affinity iiia (fcgr3a, 146740.0002)

•

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

•

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

•

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

•

en:caused by mutation in the ubiquinol-cytochrome c reductase core protein ii gene (uqcr2, 191329.0001)

•

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 vascular endothelial growth factor c gene (vegfc, 601528.0001)

•

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 vps33b-interacting protein, apical-basolateral polarity regulator gene (vipar, 613401.0001)

•

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 zinc finger mynd domain-containing protein 10 (zmynd10, 607070.0001)

•

en:caused by mutation in the zinc finger swim domain-containing protein 6 (zswim6, 615951.0001)

•

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

•

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

•

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

•

en:caused by somatic translocation or genomic rearrangement involving plag1 (603026) on 8q12

•

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

•

en:due to mutation in the aspartylglucosaminidase gene (aga, 208400.0001)

•

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

•

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

•

en:susceptibility conferred by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene (enpp1, 173335.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the shh (600725) regulatory element in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0010)

•

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

•

en:caused by mutation in the skeletal muscle chloride channel-1 gene (clcn1, 118425.0002)

•

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 transient receptor potential cation channel, subfamily m, member 6 gene (trpm6, 607009.0001)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 9 gene (slc2a9, 606142.0004)

•

en:caused by mutation in the solute carrier family 9, member 1 gene (slc9a1, 107310.0001)

•

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

•

en:caused by mutation in the sterile alpha motif domain-containing protein-9 gene (samd9, 610456.0001).

•

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

•

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 tbc1 domain family, member 24 gene (tbc1d24, 613577.0004)

•

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

•

en:caused by mutation in the thyroid hormone receptor interactor 4 gene (trip4, 604501.0001)

•

en:caused by mutation in the transglutaminase 6 gene (tgm6, 613900.0001)

•

en:caused by mutation in the inhibitor of kappa light polypeptide gene enhancer in b cells, kinase complex-associated protein gene (ikbkap, 603722.0001)

•

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

•

en:caused by mutation in the immunoglobulin lambda-like polypeptide 1 gene (igll1, 146770.0001)

•

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

•

en:caused by mutation in the alpha-3 catenin gene (ctnna3, 607667.0001)

•

en:caused by mutation in the alpha-3 laminin gene (lama3, 600805.0003)

•

en:caused by mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (gnas1, 139320.0011)

•

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

•

en:caused by mutation in the apoptosis-inducing factor, mitochondrion-associated, 1 gene (aifm1, 300169.0002)

•

en:caused by mutation in the atlastin-1 gene (atl1, 606439.0010)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0001)

•

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

•

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

•

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

•

en:caused by mutation in the alpha-1a calcium channel subunit gene (cacna1a, 601011.0002)

•

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

•

en:caused by mutation in the beta-1,3-n-acetylgalactosaminyltransferase 2 gene (b3galnt2, 610194.0001)

•

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

•

en:caused by mutation in the c1q- and tumor necrosis factor-related protein 5 gene (c1qtnf5, 608752.0001)

•

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

•

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

•

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

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0001)

•

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

•

en:caused by mutation in the alpha-2b-adrenergic receptor gene (adra2b, 104260.0001)

•

en:caused by mutation in the alkaline phosphatase gene (alpl, 171760.0001)

•

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

•

en:caused by mutations in the parkin gene (park2, 602544.0001)

•

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

•

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

•

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

•

en:caused by mutations in the excision-repair cross-complementing group 8 gene (ercc8, 609412.0001)

•

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

•

en:caused by mutations in the marvel domain-containing protein 2 gene (marveld2, 610572.0001)

•

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

•

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

•

en:caused by mutations in the recombinase activating gene 1 (rag1, 179615.0001)

•

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

•

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

•

en:caused by mutation in both the gap junction protein, beta-2 gene (gjb2, 121011.0005) and the gap junction protein, beta-6 gene (gjb6, 604418.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the acylglycerol kinase gene (agk, 610345.0010)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glucose-6-phosphatase, catalytic subunit 3 gene (g6pc3, 611045.0001)

•

en:caused by mutation in the glycerol kinase gene (gk, 300474)

•

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

•

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

•

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

•

en:caused by mutation in the guanylate cyclase 2c gene (gucy2c, 601330.0002)

•

en:caused by mutation in the heat-shock 70-kd protein-9 gene (hspa9, 600548.0003)

•

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

•

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

•

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

•

en:caused by mutation in the histone deacetylase 4 gene (hdac4, 605314.0001)

•

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

•

en:caused by mutation in the homolog of s. cerevisiae trna methyltransferase 5 (trmt5, 611023.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor 8 gene (prpf8, 607300.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of drosophila transport and golgi organization-2 gene (tango2, 616830.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gamma-2 phospholipase c gene (plcg2, 600220.0004).

•

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

•

en:caused by mutation in the colony-stimulating factor 1 receptor gene (csf1r, 164770.0001)

•

en:caused by mutation in the complex i, subunit nd5 gene (mtnd5, 516005.0001)

•

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

•

en:caused by mutation in the cytochrome b5a gene (cyb5a, 613218.0001)

•

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

•

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

•

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

•

en:caused by mutation in the doublecortin gene (dcx, 300121.0001)

•

en:caused by mutation in the forkhead box p1 gene (foxp1, 605515.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 3 gene (eif2b3, 606273.0001)

•

en:caused by mutation in the evc gene (evc, 604831.0006)

•

en:caused by mutation in the exosome component 8 gene (exosc8, 606019.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0006).

•

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

•

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

•

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

•

en:due to hemizygous deletion of 4p16.3

•

en:remainder of cases secondary to maternal disomy

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the major histocompatibility complex, class ii, dr beta-1 gene (hla-dr1b, 142857.0001)

•

en:caused by a trinucleotide repeat expansion (gcg)n in the poly(a)-binding protein-2 gene (pabpn1, 602279.0001)

•

en:a contiguous gene deletion syndrome caused by deletion (5.8 mb) of chromosome 15q26-qter encompassing the igf1r gene (147370)

•

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

•

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

•

en:caused by mutation in the zinc finger and btb domain containing 18 gene (zbtb18, 608433.0001)

•

en:caused by a 1.75 mb deletion at 15q24

•

en:caused by mutation or trinucleotide repeat expansion (gaa)n in the frataxin gene (fxn, 606829.0001)

•

en:caused by mutation in the tyrosine hydroxylase gene (th, 191290.0001).

•

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

•

en:caused by mutation in the tropomyosin-3 gene (tpm3, 191030.0001)

•

en:caused by mutation in the thromboxane a synthase-1 gene (tbxas1, 274180.0001)

•

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

•

en:caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (cftr, 602421.0001)

•

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 m, member 4 gene (trpm4, 606936.0001)

•

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 transmembrane protease, serine 6 gene (tmprss6, 609862.0001)

•

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

•

en:caused by mutation in the wnk lysine deficient protein kinase 1 gene (wnk1, 605232.0001)

•

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

•

en:caused by mutation in the uridine diphosphate glycosyltransferase 1 gene (ugt1, 191740.0005)

•

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

•

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

•

en:caused by mutation in the voltage-gated sodium channel, type viii, alpha subunit gene (scn8a, 600702.0001)

•

en:caused by mutation in the wd repeat-containing protein 45 gene (wdr45, 300526.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 3 gene (wnt3, 165330.0001)

•

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

•

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

•

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

•

en:caused by mutation in the bcl2-associated athanogene 3 gene (bag3, 603883.0002)

•

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

•

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

•

en:caused by mutation in the arylsulfatase a gene (arsa, 607574.0003)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily d, member 3 gene (abcd3, 170995.0003)

•

en:caused by mutation in the atpase, na+k+ transporting, alpha-3 polypeptide gene (atp1a3, 182350.0009)

•

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

•

en:caused by mutation in the beta-3 tubulin gene (tubb3, 602661.0006)

•

en:caused by mutation in the amylo-1,6-glucosidase, 4-alpha-glucanotransferase gene (agl, 610860.0001)

•

en:caused by mutation in the beta-a2 crystallin gene (cryba2, 600836.0001)

•

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

•

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

•

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

•

en:caused by mutation in the brca2 gene (brca2, 600185.0009)

•

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

•

en:caused by mutation in the carcinoembryonic antigen-related cell adhesion molecule-16 gene (ceacam16, 614591.0001)

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0008)

•

en:caused by mutation in the alpha tectorin gene (tecta, 602574.0003)

•

en:caused by mutations in the heparan sulfate sulfatase gene (sgsh, 605270.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the n-acetyl-alpha-d-glucosaminidase gene (naglu, 609701.0001)

•

en:caused by mutations in the pkhd1 gene (606702.0001).

•

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

•

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

•

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

•

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

•

en:caused by mutations in the zinc finger transcription factor trps1 gene (trps1, 604386.0007)

•

en:caused by mutation in atpase, h+ transporting, lysosomal, 56/58-kd, v1 subunit b, isoform-2 gene (atp6v1b2, 606939.0001)

•

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

•

en:caused by mutation in the 19-kd centrosomal protein gene (cep19, 615586.0001)

•

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

•

en:caused by mutation in the adaptor-related protein complex 1, sigma-2 subunit gene (ap1s2, 300629.0001)

•

en:caused by mutation in the alpha-1-subunit of the voltage-gated type ii sodium channel gene (scn2a, 182390.0002)

•

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

•

en:caused by mutation in the molybdenum cofactor synthesis gene 1 (mocs1, 603707.0001)

•

en:caused by mutation in the synaptojanin-1 gene (synj1, 604297.0001)

•

en:caused by mutation in the mitochondrial poly(a) polymerase gene (mtpap, 613669.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial complex i, subunit nd1 gene (mtnd1, 516000.0012)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mkks gene (mkks, 604896.0001)

•

en:caused by mutation in the myelin-associated glycoprotein gene (mag, 159460.0001)

•

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

•

en:caused by mutation in the myogenic factor 6 gene (myf6, 159991.0001)

•

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

•

en:caused by mutation in the lysine (k)-specific demethylase-6a gene (kdm6a, 300128.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the mouse noggin gene (nog, 602991.0003)

•

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

•

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 sco1 gene (sco1, 603644.0001)

•

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

•

en:caused by mutation in the interleukin 21 gene (il21, 605384.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin 1 gene (krt1, 139350.0001)

•

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

•

en:caused by mutation in the nadh-dehydrogenase 1 alpha subcomplex, assembly factor 3 gene (ndufaf3, 612911.0001)

•

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

•

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

•

en:caused by mutation in the skeletal muscle chloride channel-1 gene (clcn1, 118425.0001)

•

en:caused by mutation in the retinal rod photoreceptor cgmp phosphodiesterase, beta subunit gene (pde6b, 180072.0001)

•

en:caused by mutation in the rp9 gene (rp9, 607331.0002)

•

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

•

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

•

en:caused by mutation in the set domain-containing protein 2 gene (setd2, 612778.0001)

•

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

•

en:caused by mutation in the sideroflexin 4 gene (sfxn4, 615564.0001)

•

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 ras-associated protein rab39b (300774.0001)

•

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

•

en:caused by mutation in the solute carrier family 35 (udp-n-acetylglucosamine transporter), member 3 gene (slc35a3, 605632.0001)

•

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

•

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

•

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

•

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 succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 600857.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor 7 gene (pex7, 601757.0007)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the purinergic receptor p2y, g protein-coupled, 12 gene (p2ry12, 600515.0001)

•

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

•

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

•

en:caused by mutation in the cdk5 regulatory subunit-associated protein 2 gene (cdk5rap2, 608201.0001)

•

en:caused by mutation in the ran-binding protein 2 gene (ranbp2, 601181.0001)

•

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

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 gene (plod2, 601865.0001)

•

en:caused by mutation in the prokineticin receptor-2 gene (prokr2, 607123.0001)

•

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

•

en:caused by mutation in the pr domain-containing protein-16 gene (prdm16, 605557.0001)

•

en:caused by mutation in the purine nucleoside phosphorylase gene (pnp, 164050.0001)

•

en:caused by mutation in the regulatory factor x, 6 gene (rfx6, 612659.0001)

•

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

•

en:caused by mutation in the regulator of telomere elongation helicase 1 gene (rtel1, 608833.0014)

•

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

•

en:caused by mutation in the ribosomal protein l21 gene (rpl12, 603636.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, isk-related subfamily, member 1 gene (kcne1, 176261.0003)

•

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

•

en:caused by mutation in the soluble guanylate cyclase 1, alpha 3 gene (gucy1a3, 139396.0001)

•

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

•

en:caused by mutation in the neurobeachin-like 2 gene (nbeal2, 614169.0001).

•

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

•

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

•

en:caused by mutation in the nlr family, pyrin-domain containing 3 gene (nlrp3, 606416.0001)

•

en:caused by mutation in the norrin gene (ndp, 300659.0006)

•

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

•

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

•

en:caused by mutation in the paired-like homeodomain transcription factor-3 gene (pitx3, 602669.0001)

•

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

•

en:caused by mutation in the paired box gene 3 (pax3, 606597.0009)

•

en:caused by mutation in the peroxisome biogenesis factor 10 gene (pex10, 602859.0002)

•

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

•

en:caused by mutation in the phosphoserine phosphatase gene (psph, 172480.0001)

•

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

•

en:caused by mutation in the polymerase i, rna, subunit c gene (polr1c, 610060.0001)

•

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

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, alpha gene (scnn1a, 600228.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the vacuolar protein sorting 13a gene (vps13a, 605978.0001)

•

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

•

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

•

en:caused by mutation in the tubulin tyrosine ligase-like family member 5 gene (ttll5, 612268.0001)

•

en:contiguous gene syndrome caused by 6-mb duplication of 15q11-q13

•

en:mutation in the axis inhibitor 2 gene (axin2, 604025.0003)

•

en:susceptibility conferred by mutation in the complement factor i gene (cfi, 217030.0010)

•

en:susceptibility conferred by mutation in the dead/h box 41 gene (ddx41, 608170.0001)

•

en:susceptibility conferred by mutation in the dopamine receptor d3 gene (drd3, 126451.0001)

•

en:susceptibility conferred by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0002)

•

en:susceptibility conferred by somatic mutation in the calreticulin gene (calr, 109091.0001)

•

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

•

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

•

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 surfactant pulmonary-associated protein c gene (sftpc, 178620.0001)

•

en:caused by mutation in the solute carrier family 39 (zinc transporter), member 8 gene (slc39a8, 608732.0001)

•

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

•

en:caused by mutation in the solute carrier family 6 (neurotransmitter transporter), member 17 gene (slc6a16, 610299.0001)

•

en:caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (specc1l, 614140.0002)

•

en:caused by mutation in the stam-binding protein gene (stambp, 606247.0001)

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0006).

•

en:caused by mutation in the succinate dehydrogenase complex subunit b gene (sdhb, 185470.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transaldolase-1 gene (taldo1, 602063.0001)

•

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

•

en:caused by mutation in the transmembrane protein 216 gene (tmem216, 613277.0002)

•

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

•

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

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0029)

•

en:caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (chrnd, 100720.0010)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (myh3, 160720.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fat mass- and obesity-associated gene (fto, 610966.0003)

•

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, 134934.0015)

•

en:caused by mutation in the forkhead box c1 gene (foxc1, 601090.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 5 open reading frame 42 gene (c5orf42, 614571.0007)

•

en:caused by mutation in the claudin 14 gene (cldn14, 605608.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dedicator of cytokinesis 8 gene (dock8, 611432.0001)

•

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

•

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

•

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

•

en:caused by mutation in the complement component receptor 2 gene (cr2, 120650.0002)

•

en:caused by mutation in the cystathionine beta-synthase gene (cbs, 613381.0001)

•

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

•

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

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0006)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the kiaa0196 gene (kiaa0196, 610657.0004)

•

en:caused by mutation in the kinesin family member 1c gene (kif1c, 603060.0001)

•

en:caused by mutation in the l1 cell adhesion molecule gene (l1cam, 308840.0001)

•

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

•

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

•

en:caused by mutation in the low density lipoprotein receptor-related protein-5 gene (lrp5, 603506.0020)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial enoyl-coa hydratase, short-chain, 1 gene (echs1, 602292.0001)

•

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

•

en:caused by mutation in the mitochondrial trna (valine) gene (mttv, 590105.0002)

•

en:caused by mutation in the mks1 gene (mks1, 609883.0006)

•

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

•

en:caused by mutation in the keratin 14 gene (krt14, 148066.0002)

•

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

•

en:caused by mutation in the goosecoid homeobox gene (gsc, 138890.0001)

•

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

•

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

•

en:caused by mutation in the heparan sulfate 6-o-sulfotransferase-1 gene (hs6st1, 604846.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of drosophila sine oculis homeobox-6 gene (six6, 606326.0002)

•

en:caused by mutation in the homolog of drosophila twist-2 gene (twist2, 607556.0005)

•

en:caused by mutation in the homolog of the drosophila diaphanous 1 gene (diaph1, 602121.0002)

•

en:caused by mutation in the interleukin 11 receptor alpha gene (il11ra, 600939.0001)

•

en:caused by mutation in the homolog of the drosophila sine oculis-binding protein gene (sobp, 613667.0001)

•

en:caused by mutation in the homolog of the drosophila sine oculis homeo box 1 gene (six1, 601205.0003)

•

en:caused by mutation in the homolog of the e. coli atp-dependent protease clpap, proteolytic subunit gene (clpp, 601119.0001)

•

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

•

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

•

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

•

en:caused by mutation in the insulin-like growth factor-1 gene (igf1, 147440.0001)

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9089954 • caches: c1=6 c2=1002 c3=1

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ta

ta

xe

po

li

?!

!?

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