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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3279124

Associations d'idées

[F]

›

1000

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 73-kd pdz-domain-containing protein (ush1c, 605242.0001)

•

en:caused by mutation in the basic helix-loop-helix domain-containing protein class b, 3 gene (bhlhb3, 606200.0001)

•

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

•

en:caused by mutation in the complex i, subunit nd4 gene (mtnd4, 516003.0001)

•

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

•

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

•

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

•

en:caused by mutation in the insulin receptor gene (insr, 147670.0012)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein o-mannosyltransferase 2 gene (pomt2, 607439.0010)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glypican 3 gene (gpc3, 300037.0001)

•

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

•

en:caused by mutation in the erythrocytic protein 4.2 gene (epb42, 177070.0001)

•

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

•

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

•

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 nuclear-encoded mitochondrial thymidine kinase gene (tk2, 188250.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 62-kd nucleoporin gene (nup62, 605815.0001)

•

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

•

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

•

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

•

en:caused by mutation in the polymerase (dna-directed), delta 1, catalytic subunit gene (pold1, 174761.0001)

•

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

•

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

•

en:caused by mutation in the pyruvate dehydrogenase kinase, isoenzyme 3 gene (pdk3, 300906.0001)

•

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

•

en:caused by palindrome-mediated interchromosomal insertions on chromosome xq27.1

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0002)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0008)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atpase family gene 3-like 2 gene (afg3l2, 604581.0001)

•

en:caused by mutation in the alpha subunit of the nonvoltage-gated sodium channel 1 gene (scnn1a, 600228.0001)

•

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

•

en:caused by mutation in the wd repeat-containing protein 35 gene (wdr35, 613602.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the heat-shock 60-kd protein 1 gene (hspd1, 118190.0002)

•

en:caused by mutation in the family with sequence similarity 126 gene, member a gene (fam126a, 610531.0001)

•

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

•

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

•

en:caused by mutations in the thyroid peroxidase gene (tpo, 606765.0001)

•

en:caused by mutations in the growth/differentiation factor-5 gene (gdf5, 601146.0003)

•

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

•

en:caused by mutations in the exostosin 2 gene (ext2, 133701.0001)

•

en:caused by deletion of 6-12mb on 3pter-p25

•

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

•

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

•

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

•

en:caused by mutation in the beta-b3 crystallin gene (crybb3, 123630.0001)

•

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

•

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

•

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

•

en:caused by mutation in the neuroblastoma-amplified sequence gene (nbas, 608025.0001)

•

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

•

en:caused by mutation in the mucosa-associated lymphoid tissue lymphoma translocation gene 1 (malt1, 604860.0001)

•

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

•

en:caused by mutation in the runt-related transcription factor 1 gene (runx1, 151385.0001)

•

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

•

en:caused by mutation in the t-cell receptor alpha chain constant region gene (trac, 186880.0001)

•

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

•

en:caused by mutation in the chromosome 19 open reading frame 12 gene (c19orf12, 614297.0006)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila lines 1 gene (lins1, 610350.0001)

•

en:caused by mutation in the bone morphogenetic protein receptor, type 1b gene (bmpr1b, 603248.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0043)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the junction plakoglobin gene (jup, 173325.0002).

•

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

•

en:caused by mutation in galactose-1-phosphate uridyltransferase gene (galt, 230400.0001)

•

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

•

en:caused by mutation in the bruton tyrosine kinase gene (btk, 300300.0004)

•

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

•

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

•

en:caused by mutations in the cholinergic receptor, nicotinic, delta polypeptide gene (chrnd, 100720.0002)

•

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

•

en:caused by mutation in the ubiquitin-like modifier-activating enzyme 1 gene (uba1, 314370.0001)

•

en:caused by mutation in the tubulin-gamma complex-associated protein 6 gene (tubgcp6, 610053.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tripeptidyl peptidase 1 gene (tpp1, 607998.0004)

•

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

•

en:caused by mutation in the protein kinase c, delta gene (prkcd, 176977.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0024)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cytochrome c oxidase subunit vib, polypeptide 1 gene (cox6b1, 124089.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae mediator of rna polymerase ii transcription, subunit 12 gene (med12, 300188.0001)

•

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

•

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

•

en:caused by mutation in the caveolin-1 gene (cav1, 601047.0002)

•

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

•

en:caused by mutation in the acyl-coa dehydrogenase-9 gene (acad9, 611103.0001)

•

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

•

en:caused by mutation in the zinc finger protein 644 gene (znf644, 614159.0001)

•

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

•

en:susceptibility conferred by mutation in the neuroligin-4 gene (nlgn4, 300427.0001)

•

en:full trisomy 21, 94%

•

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

•

en:a contiguous gene syndrome caused by deletion of the lissencephaly 1 gene (lis1, 601545) and the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene (ywhae, 605066)

•

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

•

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

•

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

•

en:caused by mutation in the kelch repeat and btb/poz domains-containing protein 13 gene (kbtbd13, 613727.0001).

•

en:caused by mutation in the myosin ie gene (myo1e, 601479.0001)

•

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

•

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

•

en:caused by mutation in the adp-ribosylation factor-like 6 gene (arl6, 608845.0001)

•

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

•

en:caused by mutations in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (chrna1, 100690.0007)

•

en:caused by mutations in the alpha-3 subunit of the na+/k+-atpase gene (atp1a3, 182350.0001)

•

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

•

en:susceptibility conferred by mutation in the complement factor h gene (chf, 134370.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fras1-related extracellular matrix protein-1 gene (frem1, 608944.0008)

•

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

•

en:caused by insertion of 8 extra octapeptide repeats in the prion protein gene (prnp, 176640.0020)

•

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

•

en:caused by mutation in the acetylglucosaminyltransferase-like protein gene (large, 603590.0003)

•

en:caused by mutation in the solute carrier family 25, member 38 gene (slc25a38, 610819.0001)

•

en:susceptibility conferred by mutation in the homolog of the mouse aristaless-like 4 gene (alx4, 605420.0009)

•

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

•

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

•

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 thiopurine s-methyltransferase gene (tpmt, 187680.0001)

•

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 zinc finger fyve domain-containing protein 26 (zfyve26, 612012.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the heparan sulfate 6-o-sulfotransferase-1 gene (hs6st1, 604846.0001)

•

en:caused by mutation in the egf-containing fibulin-like extracellular matrix protein-2 gene (efemp2, 604633.0001)

•

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

•

en:(prph2, 179605.0008)

•

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

•

en:caused by mutation in the chmp family, member 1a gene (chmp1a, 164010.0001)

•

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

•

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

•

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

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0002).

•

en:caused by mutation in the perforin 1 gene (prf1, 170280.0001)

•

en:caused by mutation in the wd repeat-containing planar cell polarity effector gene (wdpcp, 613580.0001)

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0020)

•

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

•

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

•

en:caused by mutation in the gata-binding protein 1 gene (gata1, 305371.0008)

•

en:caused by mutation in the distal-less homeobox-5 gene (dlx5, 600028.0001)

•

en:caused by mutation in the otoancorin gene (otoa, 607038.0001)

•

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

•

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

•

en:caused by mutation in the neurofilament light chain gene (nefl, 162280.0003)

•

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

•

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

•

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

•

en:caused by mutation in the phosphatidylserine synthase 1 gene (ptdss1, 612792.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase, subunit 2 gene (mtnd2, 516001.0006)

•

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

•

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

•

en:caused by mutation in the liver glycogen phosphorylase gene (pygl, 613741.0001)

•

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

•

en:caused by mutation in the keratin 14 gene (krt14, 148066.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the male germ cell-associated kinase gene (mak, 154235.0001)

•

en:caused by mutation in the mannosyl (alpha-1,6-)-glycoprotein beta-1,2-n-acetylglucosaminyltransferase gene (mgat2, 602616.0001)

•

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

•

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

•

en:caused by mutation in the mitochondrial trna (valine) gene (mttv, 590105.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tubulin, beta-4a gene (tubb4a, 602662.0001)

•

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

•

en:contiguous gene syndrome caused by deletion on chromosome 22q11.2

•

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

•

en:caused by mutation in the wd repeat-containing protein 81 gene (wdr81, 614218.0001)

•

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

•

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

•

en:caused by mutation in the zrs regulatory element located in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0018)

•

en:caused by mutation of the dpy19-like 2 gene (dpy19l2, 613893.0001)

•

en:caused by simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1b1 gene (slco1b1, 604843.0001) and the solute carrier organic anion transporter family, member 1b3 gene (slco1b3, 605495.0001)

•

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

•

en:contiguous gene syndrome caused by microdeletion (600-800kb) of chromosome 17q21.31 encompassing genes crhr1 (122561), mapt (157140), sth (607067), imp5 (608284), and kansl1 (612452)

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the dopamine receptor d3 gene (drd3, 126451.0001)

•

en:susceptibility conferred by mutation in the kinesin family member 1b gene (kif1b, 605995.0002).

•

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

•

en:susceptibility conferred by mutation in the voltage-gated calcium channel beta-4 subunit gene (cacnb4, 601949.0001).

•

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

•

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

•

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

•

en:caused by mutation in the v-raf murine sarcoma viral oncogene homolog b1 gene (braf, 164757.0012)

•

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

•

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 protocadherin-15 gene (pcdh15, 605514.0006)

•

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

•

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

•

en:caused by mutation in the retinoic acid-induced gene 1 (rai1, 607642.0004)

•

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

•

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

•

en:caused by mutation in the skeletal muscle receptor tyrosine kinase gene (musk, 601296.0001).

•

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

•

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

•

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

•

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 stromal interaction molecule 1 gene (stim1, 605921.0004)

•

en:caused by mutation in the telo2-interacting protein 2 gene (tti2, 614426.0001)

•

en:caused by mutation in the thrombopoietin gene (thpo, 600044.0001)

•

en:caused by mutation in the tight junction protein 2 gene (tjp2, 607709.0002)

•

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

•

en:caused by mutation in the transmembrane protein 237 (tmem237, 614423.0001)

•

en:caused by mutation in the interleukin receptor gamma chain gene (il2rg, 308380.0001)

•

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

•

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

•

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

•

en:caused by mutation in the beta-carotene 15,15-prime-monooxygenase 1 gene (bcmo1, 605748.0001).

•

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

•

en:caused by mutation in the aspartyl-trna synthetase 2 gene (dars2, 610956.0001)

•

en:caused by mutation in the ataxia-telangiectasia and rad3-related gene (atr, 601215.0002)

•

en:caused by mutation in the atp-binding cassette, subfamily g, member 5 gene (abcg5, 605459.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calmodulin-1 gene (calm1, 114180.0001)

•

en:caused by mutation in the carbonic anhydrase xii gene (ca12, 603263.0001)

•

en:caused by mutation in the cardiac troponin i gene (tnni3, 191044.0009)

•

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

•

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

•

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

•

en:caused by mutation in the alpha-synuclein gene (snca, 163890.0001)

•

en:caused by mutation in the alpha-11 guanine nucleotide-binding protein gene (gna11, 139313.0003)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a4, 120131.0003)

•

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

•

en:caused by a 1.75 mb deletion at 15q24

•

en:a contiguous gene deletion syndrome caused by heterozygous deletion (582-738 kb) of 8q13 including the sulf1 (610012) and slco5a1 (613543) genes

•

en:caused by a deletion of chromosome 9p

•

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

•

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

•

en:caused by mutations in the ataxin 7 gene (sca7, 607640.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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 subunit a of the neuronal voltage-gated sodium channel gene (scn1a, 182389.0012)

•

en:caused by mutation in the 290-kd centrosomal protein (cep290, 610142.0013)

•

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

•

en:caused by mutation in the 57-kd centrosomal protein gene (cep57, 607951.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fk506-binding protein 10 gene (fkbp10, 607093.0002)

•

en:caused by mutation in the gamma-1 actin gene (actg1, 102560.0001)

•

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

•

en:caused by mutation in the glycogen branching enzyme gene (gbe1, 607839.0002)

•

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

•

en:caused by mutation in the hemoglobin gamma a gene (hbg1, 142200.0026)

•

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

•

en:caused by mutation in the hexokinase-1 gene (hk1, 142600.0003)

•

en:caused by mutation in the factor xiii beta subunit (f13b, 134580.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of mouse peripherin 2 gene

•

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

•

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

•

en:caused by mutation in the immunoglobulin superfamily, member 1 gene (igsf1, 300137.0001)

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (itpr1, 147265)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0004)

•

en:caused by mutation in the excision-repair cross-complementing group 8 gene (ercc8, 609412.0006)

•

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

•

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

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0002).

•

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

•

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

•

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

•

en:caused by mutation in the cullin 4b gene (cul4b, 300304.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dna polymerase, epsilon gene (pole, 174762.0001)

•

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

•

en:caused by mutation in the dual-specificity phosphatase-6 gene (dusp6, 602748.0001)

•

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

•

en:caused by mutation in the e1-alpha subunit of the pyruvate dehydrogenase complex (pdha1, 300502.0001)

•

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

•

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

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0001)

•

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

•

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

•

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

•

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

•

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 polypeptide-8 gene (myh8, 160741.0001)

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 7 gene (ndufs7, 601825.0001)

•

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

•

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-type frizzled-related protein gene (mfrp, 606227.0005)

•

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

•

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

•

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

•

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

•

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

•

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-14 gene (pex14, 601791.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the immunoglobulin mu gene (ighm, 147020.0001)

•

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

•

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

•

en:caused by mutation in the isoprenoid synthase domain-containing protein gene (ispd, 614641.0014)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the l-2-hydroxyglutarate dehydrogenase gene (l2hgdh, 609584.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0001)

•

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

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10b gene (wnt10b, 601906.0001)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 5a gene (wnt5a, 164975.0001)

•

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

•

en:caused by mutation in the zinc finger protein 592 (znf592, 613624.0001).

•

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

•

en:caused by simultaneous mutation in the g protein-coupled receptor 98 gene (gpr98, 602851.0010) and the pdz domain-containing 7 gene (pdzd7, 612971.0002)

•

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

•

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

•

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

•

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

•

en:due to mutation in the microsomal triglyceride transfer protein gene (mtp, 157147.0001)

•

en:features other than acd/mpv are variably present

•

en:susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (nod2, 605956.0001)

•

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

•

en:epileptic encephalopathy, early infantile, 7

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein o-mannosyltransferase-1 gene (pomt1, 607423.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 tropomyosin 2 gene (tpm2, 190990.0004)

•

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

•

en:caused by mutation in the platelet-derived growth factor receptor, beta, gene (pdgfrb, 173410.0003)

•

en:caused by mutation in the homolog of the mouse hydrocephalus-inducing gene (hydin, 610812.0001)

•

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

•

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

•

en:caused by mutation in the aspartate beta-hydroxylase gene (asph, 600582.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cadherin-1 gene (cdh1, 192090.0002)

•

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

•

en:caused by mutation in the calcium-activated large conductance potassium channel subfamily m, alpha member 1 gene (kcnma1, 600150.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coagulation factor v gene (f5, 612309.0004)

•

en:caused by mutation in the amyloid beta (a4) precursor protein gene (app, 104760.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by hexanucleotide repeat expansion (ggcctg)n in the homolog of the s. cerevisiae nop56 gene (nop56, 614154.0001)

•

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

•

en:caused by mutations in the cd40 gene (tnfrsf5, 109535.0001).

•

en:caused by mutations in the deafness/dystonia-1 gene (timm8a, 300356.0001).

•

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

•

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

•

en:caused by mutations in the lecithin:cholesterol acyltransferase gene (lcat, 606967.0001).

•

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

•

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

•

en:caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (slc17a5, 604322.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the apolipoprotein b gene (apob, 107730.0001)

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0002).

•

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

•

en:caused by mutation in the family with sequence similarity 20, member c gene (fam20c, 611061.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gene atp-binding cassette, subfamily a, member 5 gene (abca5, 612503.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homeobox b1 gene (hoxb1, 142968.0001)

•

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

•

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

•

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

•

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

•

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

•

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 snail 2 gene (snai2, 602150.0001)

•

en:caused by mutation in the excision-repair, complementing defective, in chinese hamster, number 5 gene (ercc5, 133530.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0039)

•

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

•

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

•

en:caused by mutation in the complement component receptor 2 gene (cr2, 120650.0002)

•

en:caused by mutation in the complement factor i gene (cfi, 217030.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 3 gene (dnajc3, 601184.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the plasma membrane ca(2+)-transporting atpase 3 gene (atp2b3, 300014.0001)

•

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

•

en:caused by mutation in the plectin gene (plec1, 601282.0001)

•

en:caused by mutation in the polyribonucleotide nucleotidyltransferase 1 gene (pnpt1, 610316.0002)

•

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 pyrin gene (mefv, 608107.0018)

•

en:caused by mutation in the matrix metalloproteinase-20 gene (mmp20, 604629.0001)

•

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

•

en:caused by mutation in the rho guanine-nucleotide exchange factor-10 gene (arhgef10, 608136.0001)

•

en:caused by mutation in the ribosomal protein sa gene (rpsa, 150370.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26, member 3 gene (slc26a3, 126650.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 35, cmp-sialic acid transporter, member 1 gene (slc35a1, 605634.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the paired-like homeodomain transcription factor-3 gene (pitx3, 602669.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the opa3 gene (opa3, 606580.0001)

•

en:caused by mutation in the origin recognition complex, subunit 1, gene (orc1, 601902.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:contiguous gene syndrome caused by 4.3-mb triplication of chromosome 4q32.1-q32.2

•

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

•

en:susceptibility conferred by mutation in the ef-hand domain (c-terminal)-containing protein 1 gene (efhc1, 608815.0001)

•

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

•

en:susceptibility conferred by mutation in the tumor protein p53 gene (tp53, 191170.0042)

•

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

•

en:susceptibility conferred by somatic mutation in the calreticulin gene (calr, 109091.0001)

•

en:translocation 21, 3.3%

•

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

•

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

•

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

•

en:caused by expanded cag trinucleotide repeats in the beta subunit of the protein phosphatase 2 gene (ppp2r2b, 604325.0001)

•

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

•

en:caused by mutations in the fibroblast growth factor receptor 2 gene (fgfr2, 176943.0001)

•

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

•

en:caused by mutation in the voltage-gated potassium channel, shab-related subfamily, member 1 gene (kcnb1, 600397.0001)

•

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 spatacsin gene (spg11, 610844.0001)

•

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 sperm-associated antigen 1 gene (spag1, 603395.0001)

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0006).

•

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

•

en:caused by mutation in the superoxide dismutase-1 gene (sod-1, 147450.0001) susceptibility conferred by mutation in the angiogenin gene (ang, 105850.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the triosephosphate isomerase-1 gene (tpi1, 190450.0001)

•

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

•

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

•

en:caused by mutation in the tubulin tyrosine ligase-like family member 5 gene (ttll5, 612268.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mannosidase, alpha, class 1b, member 1 gene (man1b1, 604346.0001).

•

en:caused by duplications or deletions on xq26 involving the sry-box 3 gene (sox3, 313430)

•

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

•

en:caused by mutation in the cln6 gene (606725.0011).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromodomain helicase dna-binding protein 2 gene (chd2, 602119.0001)

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:a contiguous gene syndrome caused by deletion of 180kb encompassing 18 genes on chromosome 17p13.1

•

en:a contiguous gene syndrome involving deletion of the digeorge syndrome chromosome region (dgcr) involving mutations in tup-like enhancer of split 1 (tuple1, 600237) and digeorge critical region gene 2 (dgcr2, 600594)

•

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

•

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

•

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

•

en:caused by mutations in the claudin-1 gene (cldn1, 603718.0001)

•

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

•

en:caused by mutations in the serine/threonine protein kinase 11 gene (stk11, 602216.0001)

•

en:caused by mutation in the activin receptor-like kinase gene (alk1, 601284.0001)

•

en:caused by mutation in the beta-mannosidase gene (manba, 609489.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the aquaporin 7 gene (aqp7, 602974.0001)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 9 gene (abcc9, 601439.0003)

•

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

•

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

•

en:caused by mutation in the dynamin-2 gene (dnm2, 602378.0013)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 45 gene (vps45, 610035.0001)

•

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

•

en:caused by mutation in the hydroxymethylbilane synthase gene (hmbs, 176000.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the interleukin-36 receptor antagonist gene (il36rn, 605507.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the laforin gene (epm2a, 607566.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the elmo/ced12 domain-containing protein 3 gene (elmod3, 615427.0001)

•

en:caused by mutation in the elongation of very long chain fatty acids-like 5 gene (elovl5, 611805.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the g-protein, alpha-stimulating 1 gene (gnas1, 139320.0001)

•

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

•

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

•

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

•

en:caused by mutation in the glucose-6-phosphate transporter 1 gene (g6pt1, 602671.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of mouse newborn ovary homeobox gene (nobox, 610934.0001)

•

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

•

en:caused by mutation in the homolog of the drosophila sine oculis homeobox gene (six3, 603714.0001).

•

en:caused by mutations in the keratin 17 gene (krt17, 148069.0001)

•

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

•

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 poly-u-binding splicing factor, 60kd gene (puf60, 604819.0001)

•

en:caused by mutation in the paired box gene 2 gene (pax2, 167409.0013)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the platelet glycoprotein vi gene (gp6, 605546.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the red cell membrane band 3 gene (bnd3, 109270.0003)

•

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

•

en:caused by mutation in the ribosomal protein s6 kinase, 90kd, polypeptide 3 gene (rps6ka3, 300075.0001)

•

en:caused by mutation in the septin 12 gene (sept12, 611562.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the lipase n gene (lipn, 613924.0001)

•

en:caused by mutation in the lipopolysaccharide-responsive, beige-like anchor protein (lrba, 606453.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein-5 gene (lrp5, 603506.0020)

•

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

•

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

•

en:caused by mutation in the microtubule-associated serine/threonine kinase-like gene (mastl, 608221.0001)

•

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

•

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

•

en:caused by mutation in the mitochondrial elongation factor g1 gene (gfm1, 606639.0001)

•

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

•

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

•

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

•

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

•

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

•

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 19, folate transporter, member 3 gene (slc19a3, 606152.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the von willebrand factor gene (vwf, 613160.0015)

•

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

•

en:caused by mutation in the zinc finger e box-binding homeobox 2 gene (zeb2, 605802.0001)

•

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

•

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

•

en:caused by mutation in the ubiquinol-cytochrome c reductase complex assembly factor 3 gene (uqcc3, 616097.0001)

•

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

•

en:cause by mutation in the xylosyltransferase-1 gene (xylt1, 608124.0002)

•

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

•

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

•

en:mutation in the axis inhibitor 2 gene (axin2, 604025.0003)

•

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

•

en:susceptibility conferred by polymorphisms in the brain-derived neurotrophic factor gene (bdnf, 113505.0002 and 113505.0003)

•

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

•

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

•

en:caused by mutation in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase gene (gne, 603824.0005)

•

en:caused by mutation in the ubiquilin 2 gene (ubqln2, 300264.0001)

•

en:caused by mutation in the solute carrier family 22 (organic cation transporter), member 5 gene (slc22a5, 603377.0001).

•

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

•

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

•

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

•

en:caused by mutation in the succinate dehydrogenase complex, subunit a, flavoprotein gene (sdha, 614165.0005)

•

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 tafazzin gene (taz, 300394.0001)

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily m, member 4 gene (trpm4, 606936.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the trk-fused gene (tfg, 602498.0002)

•

en:caused by mutation in the troponin i, fast-twitch skeletal muscle isoform, gene (tnni2, 191043.0001)

•

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

•

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

•

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

•

en:caused by mutation in the kinesin family member 21a gene (kif21a, 608283.0001)

•

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

•

en:caused by mutation in the interleukin 7 receptor gene (il7r, 146661.0001)

•

en:caused by mutation in the delta-aminolevulinate dehydratase gene (alad, 125270.0001)

•

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

•

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

•

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 type vii, alpha-1 gene (col7a1, 120120.0009).

•

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

•

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

•

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

•

en:caused by mutation in the dedicator of cytokinesis 8 gene (dock8, 611432.0001)

•

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

•

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

•

en:caused by mutation in the dihydrolipoamide acetyltransferase gene (dlat, 608770.0001)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 6 gene (dnajc6, 608375.0001)

•

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

•

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

•

en:caused by mutation in the doublecortin domain-containing protein 2 gene (dcdc2, 605755.0001)

•

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

•

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

•

en:caused by mutation in the cdgsh iron sulfur domain protein 2 gene (cisd2, 611507.0001)

•

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 evc gene (evc, 604831.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha-tubulin 1a gene (tuba1a, 602529.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ankyrin 1 gene (ank1, 182900.0001)

•

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

•

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, 300556.0002)

•

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

•

en:caused by mutation in the bcs1, s. cerevisiae, homolog-like gene (bcs1l, 603647.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila muscle segment homeo box-2 gene (msx2, 123101.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (vps13b, 607817.0001)

•

en:caused by mutation in the hps3 gene (hps3, 606118)

•

en:caused by mutation in the hsn2 isoform of the protein kinase, lysine-deficient 1 gene (wnk1, 605232.0003)

•

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

•

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

•

en:caused by mutation in the insulin gene (ins, 176730.0001)

•

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

•

en:caused by mutation in the family with sequence similarity 111, member a gene (fam111a, 615292.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the formin 2 gene (fmn2, 606373.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the growth/differentiation factor 5 gene (gd5, 601146.0005)

•

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

•

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

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide o gene (gnao1, 139311.0001)

•

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

•

en:caused by mutation in the glycoprotein ib, platelet, alpha polypeptide gene (gp1ba, 606672.0006)

•

en:caused by mutation in the granulocyte-macrophage colony-stimulating factor receptor, beta (csf2rb, 138981.0001)

•

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

•

en:caused by mutation in the presenilin 2 gene (psen2, 600759.0001)

•

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

•

en:caused by mutation in the prominin 1 gene (prom1, 604365.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 2 gene (rab3gap2, 609275.0001)

•

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

•

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

•

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

•

en:caused by mutation in the sar1, s. cerevisiae, homolog b gene (sar1b, 607690.0001)

•

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

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 3 gene (kcnq3, 602232.0001)

•

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

•

en:caused by mutation in the porcupine, drosophila, homolog of gene (porcn, 300651.0001)

•

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

•

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 myelin protein zero gene (mpz, 159440.0018)

•

en:caused by mutation in the myosin, heavy chain 14, nonmuscle gene (myh14, 608568.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the podocin gene (nphs2, 604766.0001)

•

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

•

en:caused by mutation in the nlr family, pyrin-domain containing 3 gene (nlrp3, 606416.0001)

•

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

•

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

•

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

•

en:caused by mutation in the phospholipase a2, group vi gene (pla2g6, 603604.0002)

•

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

•

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

•

en:caused by mutation in the von willebrand-cleaving protease gene (adamts13, 604134.0001)

•

en:caused by mutation in the skeletal muscle alpha-1 actin gene (acta1, 102610.0011)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:due to hemizygous deletion of 4p16.3

•

en:caused by mutation in the vesicle-associated membrane protein-associated protein b gene (vapb, 605704.0001)

•

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

•

en:susceptibility conferred by mutation in the complement factor i gene (cfi, 217030.0004)

•

en:susceptibility conferred by mutation in the homolog of the s. pombe checkpoint kinase 2 gene (chek2, 604373.0007)

•

en:susceptibility conferred by mutation in the lamin b2 gene (lmnb2, 150341.0001)

•

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

•

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

•

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

•

en:caused by mutation in the vascular endothelial growth factor c gene (vegfc, 601528.0001)

•

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

•

en:caused by mutation in the stam-binding protein gene (stambp, 606247.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 gene (slc7a9, 604144.0001)

•

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

•

en:caused by mutation in the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

•

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

•

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

•

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

•

en:caused by mutation in the transcription factor sp7 gene gene (sp7, 606633.0001)

•

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

•

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

•

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

•

en:caused by mutation in the mks1 gene (mks1, 609883.0001)

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8232035 • caches: c1=6 c2=1002 c3=1

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