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

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

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le dictionnaire d'associations lexicales
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en:caused by mutation in the neurofibromin-2 gene (nf2, 607379.0017)

Nom

Informations lexicales

Langue:anglais

Associations d'idées

1000

en:caused by mutation in the tumor necrosis factor receptor superfamily member 1a gene (tnfrsf1a, 191190.0001).

•

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

•

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

•

en:caused by mutations in myeloproliferative leukemia virus oncogene (mpl, 159530.0001)

•

en:caused by mutation in cytochrome p450, family 24, subfamily a, polypeptide-1 gene (cyp24a1, 126065.0001)

•

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

•

en:caused by mutation in the cyclin m4 gene (cnnm4, 607805.0001)

•

en:caused by mutation in the direct iap-binding protein with low pi (diablo, 605219.0001)

•

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

•

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

•

en:caused by mutation in the lysosomal trafficking regulator gene (chs1, 606897.0001)

•

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

•

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

•

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

•

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

•

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

•

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 r-type arachidonate 12-lipoxygenase gene (alox12b, 603741.0001)

•

en:caused by mutations in the atp-binding cassette, subfamily c, member 6 gene (abcc6, 603234.0005)

•

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

•

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

•

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

•

en:caused by mutation in the myofibrillogenesis regulator 1 gene (mr1, 609023.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dis3 mitotic control, s. cerevisiae, homolog-like 2 gene (dis3l2, 614184.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0012)

•

en:caused by mutation in the fumarate hydratase gene (fh, 136850.0001)

•

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

•

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

•

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

•

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

•

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 mutation in the stromal interaction molecule 1 gene (stim1, 605291.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the latent transforming growth factor-beta-binding protein 2 gene (ltbp2, 602091.0012)

•

en:caused by mutation in the laminin gamma-2 gene (lamc2, 150292.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in glycogen synthase 1 gene (gys1, 138570.0001)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene (smarcb1, 601607.0005)

•

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

•

en:caused by mutation in the alsin gene (als2, 606352.0002)

•

en:caused by mutations in the swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a-like gene (smarcal1, 606622.0001)

•

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

•

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

•

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

•

en:caused by mutation in the prosaposin gene (psap, 176801.0009).

•

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

•

en:caused by mutation in the sar1, s. cerevisiae, homolog b gene (sar1b, 607690.0001)

•

en:caused by mutation in the skeletal muscle alpha-1 actin gene (acta1, 102610.0011)

•

en:caused by mutation in the 24-dehydrocholesterol reductase gene (dhcr24, 606418.0001)

•

en:caused by mutation in the neurobeachin-like 2 gene (nbeal2, 614169.0001).

•

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

•

en:caused by mutation in the beta-1,3-glucuronyltransferase 3 gene (b3gat3, 606374.0001)

•

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

•

en:caused by mutation in the collagen ix, alpha-1 polypeptide gene (col9a1, 120210.0001)

•

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

•

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

•

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

•

en:caused by mutation in the neuronal nicotinic cholinergic receptor, alpha polypeptide 2 gene (chrna2, 118502.0001)

•

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

•

en:caused by mutation in the s. cerevisiae homolog of the required for meiotic nuclear division 1 gene (rmnd1, 614917.0001)

•

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

•

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

•

en:caused by mutation in the faciogenital dysplasia gene (fgd1, 300546.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in lactase (lct, 603202.0001)

•

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

•

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

•

en:caused by mutation in the atpase, class i, type 8a, member 2 gene (atp8a2, 605870.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the adenosine kinase gene (adk, 102750.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 aspartate beta-hydroxylase gene (asph, 600582.0001)

•

en:caused by mutation in the myotilin gene (ttid, 604103.0006)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gamma-aminobutyric acid (gaba) a receptor, gamma-2 gene (gabrg2, 137164.0003)

•

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

•

en:caused by mutation in the agrin gene (agrn, 103320.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the voltage-gated sodium channel, type i, beta subunit gene (scn1b, 600235.0001)

•

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

•

en:caused by mutation in the human homolog of the mouse progressive ankylosis gene (ankh, 605145.0001)

•

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

•

en:caused by mutation in the heat-shock 60kd protein 1 gene (hspd1, 118190.0001)

•

en:susceptibility conferred by allele 2 of the dinucleotide repeat in the dopamine receptor drd5 gene (126453.0001)

•

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

•

en:caused by mutation in the succinate dehydrogenase complex assembly factor-2 gene (sdhaf2, 613019.0001)

•

en:caused by mutation in the sedlin gene (sedl, 300202.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dj1 gene (602533.0001)

•

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

•

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

•

en:caused by mutation in the collectin 11 gene (612502.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fatty acyl coa reductase 1 gene (far1, 616107.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the bbs5 gene (bbs5, 603650.0001)

•

en:caused by mutation in the argininosuccinate lyase gene (asl, 608310.0001)

•

en:caused by mutation in the alpha subunit of the voltage-gated sodium channel type ix gene (scn9a, 603415.0019)

•

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

•

en:caused by mutation in the 15-alpha-hydroxyprostaglandin dehydrogenase gene (hpgd, 601688.0001).

•

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

•

en:caused by duplication of the methyl-cp6-binding protein 2 gene (mecp2, 300005.0030)

•

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

•

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

•

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

•

en:caused by mutation in the ring finger protein 125 gene (rnf125, 610432.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the spectrin, alpha, erythrocytic-1 gene (spta1, 182860.0001)

•

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

•

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

•

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

•

en:caused by mutation in the thiazide-sensitive na-cl cotransporter (slc12a3, 600968.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the stip1 homologous and u box-containing protein 1 gene (stub1, 607207.0001)

•

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, 104311.0034)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the paired-like homeodomain transcription factor-1 gene (pitx1, 602149.0001)

•

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

•

en:caused by interstitial duplication (3.7mb) of 17p11.2

•

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

•

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

•

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 alsin gene (als2, 606352.0001)

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial lon peptidase-1 gene (lonp1, 605490.0001)

•

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

•

en:caused by mutation in the monoamine oxidase a gene (maoa, 309850.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the carbohydrate synthase 1 gene (chsy1, 608123.0001)

•

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

•

en:caused by mutation in the fibroblast growth factor 10 gene (fgf10, 602115.0003)

•

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

•

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

•

en:caused by mutation in the creb-binding protein gene (crebbp, 600140.0001).

•

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

•

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

•

en:caused by mutation in the paired-related homeobox gene 1 (prrx1, 167420.0001)

•

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

•

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

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 6 (pnpla6, 603197.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the porcupine, drosophila, homolog of gene (porcn, 300651.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the pyrin domain-containing-1 of the nlr family gene (nlrp1, 606626.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the leucine zipper-like transcriptional regulator 1 gene (lztr1, 600574.0001)

•

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

•

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

•

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 matrilin 3 gene (matn3, 602109.0001)

•

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

•

en:caused by mutation in the methionine synthase reductase gene (mtrr, 602568.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 gene (ndufa1, 300078.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 transporter, atp-binding cassette, major histocompatibility complex, 2 gene (tap2, 170261.0004)

•

en:caused by mutation in the tripartite motif-containing 37 gene (trim37, 605073.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 7 gene (tnfrsf7, 186711.0001)

•

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

•

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

•

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 transmembrane mucin 1 gene (muc1, 158340.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:linked to a locus at 16q.

•

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

•

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

•

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

•

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

•

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

•

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 s-antigen gene (sag, 181031.0001)

•

en:caused by mutation in the scaffold protein containing ankyrin repeats and sam domain gene (sans, 607696.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the snf2-related cbp activatory protein gene (srcap, 611421.0001)

•

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

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (slc26a2, 222600.0005)

•

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

•

en:caused by mutation in the transcobalamin ii gene (tcn2, 613441.0001)

•

en:caused by mutation in the solute carrier family 38 (amino acid transporter), member 8 gene (slc38a8, 615585.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the thiopurine s-methyltransferase gene (tpmt, 187680.0001)

•

en:caused by mutation in the lecithin retinol acyltransferase gene (lrat, 604863.0001)

•

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

•

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

•

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

•

en:caused by mutation in the alpha subunit of the type iv voltage-gated sodium channel gene (scn4a, 603967.0015).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the autoimmune regulator gene (aire, 607358.0001)

•

en:caused by mutation in the bbs2 gene (bbs2, 606151.0001)

•

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

•

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 beta actin gene (actb, 102630.0002)

•

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

•

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

•

en:caused by mutation in the brca1-associated c-terminal helicase 1 gene (brip1, 605882.0001)

•

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

•

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

•

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

•

en:caused by mutation in the camp-dependent regulatory subunit 1 of protein kinase a gene (prkar1a, 188830.0015)

•

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

•

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

•

en:caused by mutation in the alpha-1d subunit of the l-type voltage-dependent calcium channel gene (cacna1d, 114206.0001)

•

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

•

en:caused by mutations in the cystathionase gene (cth, 607657.0001)

•

en:caused by a 1.75 mb deletion at 15q24

•

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

•

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

•

en:caused by an sva retrotransposon insertion in an intron of the tata-binding protein-associated factor-1 gene (taf1, 313650.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the aggrecan-1 gene (agc1, 155760.0001)

•

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

•

en:caused by mutations in the lamin b receptor gene (lbr, 600024.0001)

•

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

•

en:caused by mutations in the phd finger protein 6 gene (phf6, 300414.0001)

•

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

•

en:caused by mutations in the tumor protein 63 gene (tp63, 603273.0012)

•

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

•

en:caused by mutation in the 5-oxoprolinase gene (oplah, 614243.0001)

•

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

•

en:caused by mutation in the adenylate cyclase-1, brain gene (adcy1, 103072.0001)

•

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

•

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

•

en:caused by mutation in the kinesin family member 14 gene (kif14, 611279.0001)

•

en:caused by mutation in the hamartin gene (tsc1, 605284.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gamma-c-crystallin (crygc, 123680.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the granulocyte colony-stimulating factor-3 receptor gene (csf3r, 138971.0001)

•

en:caused by mutation in the heat-shock transcription factor 4 (hsf4, 602438.0001)

•

en:caused by mutation in the ferritin light chain gene (ftl, 134790.0001)

•

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

•

en:caused by mutation in the homolog of the chlamydomonas radial spoke head 1 gene (rsph1, 609314.0001)

•

en:caused by mutation in the homolog of the drosophila suppressor of fused gene (sufu, 607035.0007)

•

en:caused by mutation in the homolog of the e. coli atp-dependent protease clpap, proteolytic subunit gene (clpp, 601119.0001)

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 120435.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 5 open reading frame 42 gene (c5orf42, 614571.0007)

•

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

•

en:caused by mutation in the cln3 gene (cln3, 607042.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen xvii, alpha-1 polypeptide gene (col17a2, 113811.0001)

•

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

•

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

•

en:caused by mutation in the cryptic-protein gene (cfc1, 605194.0004)

•

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

•

en:caused by mutation in the endothelin 3 gene (edn3, 131242.0004)

•

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

•

en:caused by mutation in the dihydrolipoamide branched chain transacylase gene (dbt, 248610.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the early growth response-2 gene (egr2, 129010.0002)

•

en:caused by mutation in the ectodysplasin a gene (eda, 300451.0014)

•

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

•

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

•

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

•

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

•

en:caused by a deletion of 11q23

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the never in mitosis gene a-related kinase 1 gene (nek1, 604588.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (pnkp, 605610.0001)

•

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

•

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

•

en:caused by mutation in the prodynorphin gene (pdyn, 131340.0001)

•

en:caused by mutation in the prokineticin receptor-2 gene (prokr2, 607123.0001)

•

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

•

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

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0018)

•

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

•

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

•

en:caused by mutation in the l1 cell adhesion molecule gene (l1cam, 308840.0001)

•

en:caused by mutation in the human homolog a of the s. cerevisiae sec23 gene (sec23a, 610511.0001)

•

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

•

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

•

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 keratin 14 gene (krt14, 148066.0005)

•

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

•

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

•

en:caused by mutation in the kit ligand gene (kitlg, 184745.0003)

•

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

•

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

•

en:caused by mutation in the mitochondrial apoptogenic protein 1 gene (apopt1, 616003.0001)

•

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

•

en:caused by mutation in the lysyl-trna synthetase gene (lars, 601421.0003)

•

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

•

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

•

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

•

en:caused by mutation in the methionine synthase gene (mtr, 156570.0001)

•

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

•

en:caused by mutation in the microfibrillar-associated protein-5 gene (mfap5, 601103.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 e box-binding homeobox 2 gene (zeb2, 605802.0001)

•

en:caused by translocation disrupting the fibulin-1 gene (fbln1, 135820)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutations in the mhc class ii transactivator gene (mhc2ta, 600005.0007)

•

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

•

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 peripherin gene (prph, 170710.0001)

•

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

•

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

•

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

•

en:caused by a pentanucleotide repeat expansion (attct)n in the ataxin 10 gene (atxn10, 603516.0001).

•

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

•

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

•

en:caused by mutation in the ribosomal protein s29 gene (rps29, 603633.0001)

•

en:caused by mutation in the solute carrier family 35, member d1 gene (slc25d1, 610804.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the shugoshin-like-1 gene (sgol1, 609168.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 52 (riboflavin transporter), member 3 gene (slc52a3, 613350.0001)

•

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

•

en:caused by mutation in the sprouty-related evh1 domain-containing protein 1 gene (spred1, 609291.0001)

•

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

•

en:caused by mutation in the subunit 1 phosphatase of the c-terminal domain of rna polymerase ii subunit a gene (ctdp1, 604927.0001)

•

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

•

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

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the hsn2 isoform of the protein kinase, lysine-deficient 1 gene (wnk1, 605232.0003)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae coq9 gene (coq9, 612837.0001)

•

en:caused by mutation in the atr-x gene (atrx, 300032.0001)

•

en:caused by mutation in the abnormal spindle-like, microcephaly-associated gene (aspm, 605481.0001)

•

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 alpha-3 catenin gene (ctnna3, 607667.0001)

•

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 angiopoietin-like 4 gene (angptl4, 605910.0001)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily a, member 1 gene (abca1, 600046.0001)

•

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

•

en:caused by mutation in the bbs4 gene (bbs4, 600374.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calpain 3 gene (capn3, 114240.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle gene (chrna1, 100690.0013)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in homolog 3 of the drosophila 'roundabout' gene (robo3, 608630.0001)

•

en:caused by mutations in the 5-alpha-reductase-2 gene (srd5a2, 607306.0001)

•

en:caused by mutations in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0002)

•

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

•

en:caused by mutations in the cystatin c gene (cst3, 604312.0001)

•

en:caused by mutations in the delta-7-dehydrocholesterol reductase gene (dhcr7, 602858.0001)

•

en:caused by mutation in leprecan-like-1 gene (leprel1, 610341.0001)

•

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

•

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

•

en:caused by mutations in the peroxisomal biogenesis factor-7 gene (pex7, 601757.0001)

•

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

•

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

•

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

•

en:caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (slc4a4, 603345.0001)

•

en:caused by mutations in the succinate dehydrogenase complex subunit c gene (sdhc, 602413.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fukutin gene (fktn, 607440.0001)

•

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 gene (gjb2, 121011.0020)

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the goosecoid homeobox gene (gsc, 138890.0001)

•

en:caused by mutation in the growth/differentiation factor-5 gene (gdf5, 601146.0020)

•

en:caused by mutation in the gtp cyclohydrolase 1 gene (gch1, 600225.0017)

•

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

•

en:caused by mutation in the homeo box gene expressed in es cells (hesx1, 601802.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the e. coli mutl 1 gene (mlh1, 120436.0006)

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, epsilon polypeptide gene (chrne, 100725.0001)

•

en:caused by mutation in the formin 2 gene (fmn2, 606373.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cystathionine beta-synthase gene (cbs, 613381.0001)

•

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

•

en:caused by mutation in the cytochrome p450 oxidoreductase gene (por, 124015.0001)

•

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

•

en:caused by mutation in the family with sequence similarity 111, member a gene (fam111a, 615292.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fad-dependent oxidoreductase domain-containing protein 1 gene (foxred1, 613622.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the podocin gene (nphs2, 604766.0001)

•

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

•

en:caused by mutation in the potassium inwardly-rectifying channel, subfamily j, member 11 gene (kcnj11, 600937.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the kinesin family member 1c gene (kif1c, 603060.0001)

•

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

•

en:caused by mutation in the keratin-5 gene (krt5, 148040.0009)

•

en:caused by mutation in the hps4 gene (hps4, 606682)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin-14 gene (krt14, 148066.0015)

•

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

•

en:caused by mutation in the mouse homolog of the nodal gene (nodal, 601265.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitogen-activated kinase kinase kinase 1 gene (map3k1, 600982.0001)

•

en:caused by mutation in the mks1 gene (mks1, 609883.0006)

•

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

•

en:caused by mutation in the transforming growth factor, beta receptor i, 53kd gene (tgfbr1, 190181.0001)

•

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

•

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

•

en:caused by mutation in the tumor-associated calcium signal transducer 2 gene (tacstd2, 137290.0001)

•

en:caused by mutation in the tyrosinase-related protein 1 gene (tyrp1, 115501.0001)

•

en:caused by mutation in the udp-gal:beta-gal beta-1,3-galactosyltransferase polypeptide 6 gene (b3galt6, 615291.0007)

•

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

•

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

•

en:caused by mutation in the vesicle-associated membrane protein-associated protein b gene (vapb, 605704.0001)

•

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

•

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

•

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

•

en:caused by mutation in the tripartite motif-containing protein 32 gene (trim32, 602290.0001)

•

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

•

en:caused by somatic mutation in the alpha-stimulatory subunit of the guanine nucleotide-binding protein gene (gnas1, 139320.0008)

•

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

•

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

•

en:susceptibility conferred by mutation in the complement component 3 gene (c3, 120700.0005)

•

en:susceptibility conferred by mutation in the complement factor i gene (cfi, 217030.0010)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ribosomal protein l15 gene (rpl15, 604174.0001)

•

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

•

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

•

en:caused by mutation in the selenoprotein n, 1 gene (sepn1, 606210.0008)

•

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

•

en:caused by mutation in the short chain acyl-coa dehydrogenase gene (acads, 606885.0001)

•

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

•

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 25 (mitochondrial carrier, citrin), member 13 gene (slc25a13, 603859.0001)

•

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

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 8 gene (slc26a8, 608480.0001)

•

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 transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0008)

•

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

•

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

•

en:caused by mutation in the synaptotagmin-2 gene (syt2, 600104.0001)

•

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

•

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

•

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

•

en:caused by mutation in the tetratricopeptide repeat domain-containing protein-7a gene (ttc7a, 609332.0001)

•

en:caused by mutation in the thrombospondin-type laminin g domain and ear repeats gene (tspear, 612920.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the c1 esterase inhibitor gene (c1nh, 106100.0001)

•

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

•

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

•

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

•

en:caused by mutation in the atp synthase, h+ transporting, mitochondrial f1 complex, alpha subunit 1 (atp5a1, 164360.0001)

•

en:caused by mutation in the au-specific rna-binding protein gene (auh, 600529.0001)

•

en:caused by mutation in the barrier-to-autointegration factor-1 gene (banf1, 603811.0001)

•

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

•

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

•

en:caused by mutation in the calcium-activated nucleotidase 1 gene (cant1, 613165.0001)

•

en:caused by mutation in the anoctamin 10 gene (ano10, 613726.0001)

•

en:caused by mutation in the cdk5 regulatory subunit-associated protein 2 gene (cdk5rap2, 608201.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the artemis gene (artemis, 605988.0001)

•

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

•

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

•

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

•

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:a contiguous gene deletion syndrome caused by a deletion (3.9 mb) of chromosome 2p16.1-p15

•

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 chromosome 14 paternal uniparental disomy

•

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

•

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

•

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

•

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

•

en:caused by mutations in the alpha-l-fucosidase gene (fuca1, 230000.0001)

•

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

•

en:caused by mutation in the alpha-b crystallin gene (cryab, 123590.0006)

•

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

•

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

•

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

•

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 the 3-prime repair exonuclease 1 gene (trex1, 606609.0008)

•

en:caused by mutation in the acid phosphatase 5, tartrate resistant gene (acp5, 171640.0001)

•

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

•

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

•

en:caused by mutation in the adenosine deaminase gene (ada, 102700.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (mass1, 602851.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the four-and-a-half lim domains 1 gene (fhl1, 300163.0004).

•

en:caused by mutation in the gap junction protein, beta-6 gene (gjb6, 604418.0004)

•

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

•

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

•

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

•

en:caused by mutation in the ferrochelatase gene (fech, 177000.0001)

•

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

•

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

•

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

•

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

•

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 homolog of s. cerevisiae rad51 gene (rad51, 179617.0003)

•

en:caused by mutation in the homolog of the drosophila orthodenticle 2 gene (otx2, 600038.0006)

•

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

•

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

•

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

•

en:caused by mutation in the ferritin heavy chain-1 gene (fth1, 134770.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cytochrome c oxidase iii gene (mtco3, 516050.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dna methyl-transferase 3b gene (dnmt3b, 602900.0001)

•

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

•

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

•

en:caused by mutation in the ectodysplasin anhidrotic receptor gene (edar, 604095.0005)

•

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

•

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

•

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

•

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

•

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

•

en:(prph2, 179605.0008)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the neurexin 1 gene (nrxn1, 600565.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the peripheral myelin protein-22 gene (pmp22, 601097.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphoserine aminotransferase 1 gene (psat1, 610936.0003)

•

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

•

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

•

en:caused by mutation in the proteolipid protein 1 gene (plp1, 300401.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ribonucleotide reductase, m2 b gene (rrm2b, 604712.0001)

•

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

•

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

•

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

•

en:caused by mutation in the integrin, beta-3 gene (itgb3, 173470.0018)

•

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 keratin-6c gene (krt6c, 612315.0001)

•

en:caused by mutation in the keratin 16 gene (krt16, 148068.0002)

•

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

•

en:caused by mutation in the keratin 86 gene (krt86, 601928.0001).

•

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

•

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

•

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

•

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

•

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 low density lipoprotein receptor-related protein-5 gene (lrp5, 603506.0020)

•

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

•

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

•

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

•

en:caused by mutation in the methyl-cpg-binding protein 2 gene (mecp2, 300005.0009).

•

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

•

en:caused by mutation in the retinoblastoma-binding protein-8 gene (rbbp8, 604124.0002)

•

en:caused by mutation in the ryanodine receptor-2 gene (ryr2, 180902.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the von willebrand-cleaving protease gene (adamts13, 604134.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 platelet thromboxane a2 receptor gene (tbxa2r, 188070.0001)

•

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

•

en:schwannomatosis 1

•

en:caused by mutation in the twist transcription factor gene (twist, 601622.0001)

•

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

•

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

•

en:caused by mutation in the spectrin repeat-containing nuclear envelope protein 4 gene (syne4, 615535.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0004)

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0001)

•

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

•

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

•

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 transformation gene erbb-3 (erbb3, 190151.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the asparagine synthetase gene (asns, 108370.0001)

•

en:caused by mutation in the atlastin gene (spg3a, 606439.0001)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the btb/poz domain-containing protein 12 (btbd12, 613278.0001)

•

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

•

en:caused by mutation in the cathepsin f gene (ctsf, 603539.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the triggering receptor expressed on myeloid cells-2 gene (trem2, 605086.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the prion protein gene (prnp, 176640.0018)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 4-hydroxyphenylpyruvate dioxygenase gene (hpd, 609695.0005)

•

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

•

en:caused by mutation in the alanyl-trna synthetase 2 gene (aars2, 612035.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha-sarcoglycan gene (sgca, 600119.0001)

•

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

•

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

•

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

•

en:caused by mutation in the coagulation factor 2 gene (f2, 176930.0009)

•

en:caused by mutation in the guanine nucleotide-binding protein, beta-4 gene (gnb4, 610863.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fructose-1,6-bisphosphatase gene (fbp1, 611570.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of chlamydomonas poc1 centriolar protein-b gene (poc1b, 614784.0001)

•

en:caused by mutation in the homolog of mouse peripherin 2 (prph2, 179605.0009)

•

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

•

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

•

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

•

en:caused by mutation in the host cell factor c1 gene (hcfc1, 300019.0001)

•

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

•

en:caused by mutation in the hcls1-associated protein x1 (hax1, 605998.0001).

•

en:caused by mutation in the family with sequence similarity 134, member b gene (fam134b, 613114.0001)

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 8 gene (ercc6, 609413.0009)

•

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

•

en:caused by mutation in the collagen, type iv, alpha-6 gene (col4a6, 303631.0002)

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0001)

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0009).

•

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

•

en:caused by mutation in the contactin 2 gene (cntn2, 190197.0001)

•

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

•

en:caused by mutation in the cyclin-dependent kinase inhibitor-1b gene (cdkn1b, 600778.0001)

•

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

•

en:caused by mutation in the cytochrome c oxidase subunit 15 gene (cox15, 603646)

•

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

•

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

•

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

•

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

•

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 ets variant gene 6 (etv, 600618.0003)

•

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

•

en:caused by mutation in the dedicator of cytokinesis 8 gene (dock8, 611432.0001)

•

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 tripartite motif-containing protein 2 gene (trim2, 614141.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the triadin gene (trdn, 603283.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein 62 (wdr62, 613583.0001)

•

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 5a gene (wnt5a, 164975.0001)

•

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 592 (znf592, 613624.0001).

•

en:susceptibility conferred by duplication of the homolog of the mouse t brachyury gene (t, 601397)

•

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

•

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

•

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

•

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

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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=8234367 • caches: c1=6 c2=1002 c3=1

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A propos

Champs masqués

4.1 s