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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

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umls:C4231252

Associations d'idées

[F]

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1000

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

•

en:caused by mutation in the forkhead box c1 gene (foxc1, 601090.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the isovaleryl co-a dehydrogenase gene (ivd, 607036.0001)

•

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

•

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

•

en:caused by mutation in the gata-binding protein-6 gene (gata6, 601656.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the beta-2 integrin gene (itgb2, 600065.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glutaredoxin 5 gene (glrx5, 609588.0004)

•

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

•

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

•

en:caused by mutation in the dermatan sulfate epimerase gene (dse, 605942.0001)

•

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

•

en:caused by mutation in the mitochondrial ts translation elongation factor gene (tsfm, 604723.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the desmoplakin gene (dsp, 125647.0004)

•

en:caused by a trinucleotide repeat expansion cag(n) in the junctophilin-3 gene (jph3, 605268.0001)

•

en:due to hemizygous deletion of 4p16.3

•

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

•

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

•

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

•

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

•

en:caused by mutation in the structural maintenance of chromosomes 1a gene (smc1a, 300040.0001)

•

en:caused by mutation in the romboid 5, drosophila, homolog of, 2 gene (rhbdf2, 614404.0001 )

•

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

•

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

•

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

•

en:caused by mutation in the mannosyl-oligosaccharide glucosidase gene (mogs, 601336.0001)

•

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

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 609309.0014)

•

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

•

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

•

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

•

en:caused by mutation in the arginase gene (arg1, 207800.0001)

•

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

•

en:caused by mutation in the alpha-a-crystallin gene (cryaa, 123580.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0001)

•

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

•

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 collagen type vii, alpha-1 gene (col7a1, 120120.0009).

•

en:caused by mutation in the golgi snap receptor complex member 2 gene (gosr2, 604027.0001)

•

en:caused by mutation in the n-myc downstream regulated gene-1 (ndrg1, 605262.0001)

•

en:caused by mutation in the sry-box 5 gene (sox5, 604975.0001)

•

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

•

en:caused by mutation in the scavenger decapping enzyme gene (dcps, 610534.0001)

•

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 potassium inwardly-rectifying channel, subfamily j, member 13 gene (kcnj13, 603208.0002)

•

en:caused by mutation in the peptidase d gene (pepd, 613230.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the uracil-dna glycosylase gene (ung, 191525.0001)

•

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

•

en:caused by mutation in the 107-kd nucleoporin gene (nup107, 607617.0001)

•

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

•

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

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 11b gene (tnfrsf11b, 602643.0001)

•

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

•

en:caused by mutation in the syntaxin 16 gene (stx16, 603666.0001)

•

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

•

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

•

en:caused by mutation in the rho guanine nucleotide exchange factor-6 gene (300267.0001)

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor 1 gene (pex1, 602136.0006)

•

en:caused by mutation in the lipopolysaccharide-induced tumor necrosis factor-alpha factor gene (litaf, 603795.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the recombination-activating gene 1 (rag1, 179615.0018)

•

en:caused by mutation in the tubulin-gamma complex-associated protein 4 gene (tubgcp4, 609610.0001)

•

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

•

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 sialyltransferase-9 gene (siat9, 604402.0001)

•

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

•

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

•

en:caused by mutation in the interleukin 11 receptor alpha gene (il11ra, 600939.0001)

•

en:caused by mutation in the gap junction protein, beta 2 gene (gjb2, 121011.0020)

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0002)

•

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

•

en:caused by mutations in the myeloperoxidase gene (mpo, 606989.0001).

•

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

•

en:caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene (ap4e1, 607244.0004)

•

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

•

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

•

en:caused by mutation in the beta-1-galactosidase gene (glb1, 230500.0004)

•

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

•

en:caused by mutation in the collagen type ii alpha-1 gene (col2a1, 120140.0043)

•

en:caused by mutation in the v-raf murine sarcoma viral oncogene homolog b1 gene (braf, 164757.0024)

•

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

•

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

•

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

•

en:caused by mutation in the six-transmembrane epithelial antigen of prostate 3 gene (steap3, 609671.0001)

•

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

•

en:caused by mutation in the nebulin gene (neb, 160650.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 3 gene (ndufs3, 603846.0001)

•

en:caused by mutation in the myelin transcription factor 1-like gene (myt1l, 613084.0001)

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae rad51 gene (rad51, 179617.0003)

•

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

•

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

•

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

•

en:caused by mutation in the fxyd domain-containing ion transport regulator 2 gene (fxyd2, 601814.0001)

•

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

•

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

•

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

•

en:caused by a deletion of chromosome 9p

•

en:caused by mutation in the c. elegans mab21 homolog-like 2 gene (mab21l2, 604357.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial glutamic acid transfer rna gene (mtte, 590025.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 6 (dopamine neurotransmitter transporter), member 3 gene (slc6a3, 126455.0002)

•

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

•

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

•

en:caused by mutation in the prolactin receptor gene (prlr, 176761.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the abhydrolase domain-containing protein 12 gene (abhd12, 613599.0001)

•

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

•

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

•

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

•

en:caused by mutation in the transaldolase-1 gene (taldo1, 602063.0001)

•

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

•

en:susceptibility conferred by mutation in the inwardly rectifying potassium channel, subfamily j, member 18 gene (kcnj18, 613236.0001)

•

en:caused by deletion of mtdna

•

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

•

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

•

en:caused by mutation in the mitochondrial enoyl-coa hydratase, short-chain, 1 gene (echs1, 602292.0001)

•

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

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0001)

•

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

•

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

•

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

•

en:caused by mutation in the dishevelled-3 gene (dvl3, 601368.0001)

•

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

•

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

•

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

•

en:caused by mutation in the aldehyde dehydrogenase 5 family, member a1 gene (aldh5a1, 610045.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ubiquitin-specific protease 9, x chromosome gene (usp9x, 300072.0001)

•

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

•

en:caused by mutation in the signal transducer and activator of transcription 2 (stat2, 600556.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitofusin 2 gene (mfn2, 608507.00001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the luteinizing hormone beta-polypeptide gene (lhb, 152780.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sodium channel, nonvoltage-gated 1, alpha gene (scnn1a, 600228.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dehydrodolichyl diphosphate synthase gene (dhdds, 608172.0001)

•

en:caused by mutation in the collagen v, alpha-1 polypeptide gene (col5a1, 120215.0002)

•

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

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0004)

•

en:caused by mutations in the flj90140 gene (flj90130, 607461.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the slit- and ntrk-like family, member-6 gene (slitrk6, 609681.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of drosophila twist-2 gene (twist2, 607556.0004)

•

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

•

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

•

en:caused by mutation in the chromosome 16 open reading frame 57 gene (c16orf57, 613276.0001)

•

en:caused by mutation in the chromosome 11 open reading frame 73 gene (c11orf73, 614908.0001)

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0010)

•

en:caused by mutation in the gli-kruppel family member gli3 gene (gli3, 165240.0004)

•

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

•

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

•

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

•

en:caused by mutation in the peptidyl-trna hydrolase 2 gene (ptrh2, 608625.0001)

•

en:caused by mutation in the keratin-71 gene (krt71, 608245.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae coenzyme q4 gene (coq4, 612898.0001)

•

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

•

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

•

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

•

en:caused by mutation in the dopamine beta-hydroxylase gene (dbh, 609312.0002)

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0015)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the indian hedgehog gene (ihh, 600726.0001)

•

en:caused by mutation in the cytochrome b(-245) alpha subunit gene (cyba, 608508.0001)

•

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

•

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

•

en:caused by mutation in the bbs2 gene (bbs2, 606151.0018)

•

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

•

en:caused by mutation in the transmembrane protein 15 gene (tmem15, 610746.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the damage regulated autophagy modulator 2 gene (dram2, 613360.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the parathyroid hormone-responsive b1 gene (pthb1, 607968.0001)

•

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

•

en:caused by mutation in the paired box gene 3 (pax3, 606597.0009)

•

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

•

en:caused by mutation in the phosphate regulating endopeptidase homolog, x-linked, gene (phex, 300550.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the presenilin 1 gene (psen1, 104311.0038)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial aconitase gene (aco2, 100850.0002)

•

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

•

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

•

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

•

en:caused by mutation in the insulin-like growth factor-1 gene (igf1, 147440.0001)

•

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

•

en:caused by mutation in the interleukin 17 receptor c gene (ir17rc, 610925.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mhc class ii transactivator gene (mhc2ta, 600005.0001)

•

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

•

en:caused by mutation in the mitochondrial processing peptidase, alpha gene (pmpca, 613036.0001)

•

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

•

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

•

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

•

en:caused by mutation in the myotubularin-related protein-2 gene (mtmr2, 603557.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 3 gene (ndufv3, 603846.0001)

•

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

•

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

•

en:caused by mutation in the recq protein-like 3 gene (recql3, 604610.0001)

•

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

•

en:caused by mutation in the indian hedgehog gene (ihh, 600726.0005)

•

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

•

en:caused by mutation in the ubiquitin-specific protease 9 gene, x-linked (usp9x, 300072.0004)

•

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

•

en:caused by mutation in the valyl-trna synthetase 2 gene (vars2, 612802.0001)

•

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

•

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

•

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

•

en:caused by mutation in the zinc finger fyve domain-containing protein 26 (zfyve26, 612012.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the homolog of the s. cerevisiae coq2 gene (coq2, 609825.0006).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the stromalin-3 gene (stag3, 608489.0001)

•

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

•

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

•

en:caused by mutation in the serine active site-containing protein 1 (serac1, 614725.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 35, member c1 gene (slc35c1, 605881.0001)

•

en:caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 gene (slc7a9, 604144.0001)

•

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

•

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

•

en:caused by mutation in the transmembrane protein 67 gene (tmem67, 609884.0018)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tnni3-interacting kinase gene (tnni3k, 613932.0001)

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 3 gene (trpv3, 607066.0005)

•

en:caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (inpp5e, 613037.0001).

•

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

•

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

•

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

•

en:caused by mutation in the alpha-sarcoglycan gene (sgca, 600119.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the b-cell linker protein gene (blnk, 604515.0001)

•

en:caused by mutation in the b9 domain-containing protein 1 gene (b9d1, 614144.0001)

•

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

•

en:caused by mutation in the adenylate kinase-1 gene (ak1, 103000.0001)

•

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

•

en:caused by mutation in the cathepsin d gene (ctsd, 116840.0001)

•

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

•

en:caused by mutation in the cgmp-inhibited phosphodiesterase-3a gene (pde3a, 123805.0001)

•

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

•

en:caused by mutation in the chromosome 10 open reading frame 2 gene (c10orf2, 606075.0016)

•

en:caused by mutation in the chromosome 21 open reading frame 59 gene (c21orf59, 615494.0001)

•

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

•

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

•

en:caused by mutation in the alpha-methylacyl-coa racemase gene (amacr, 604489.0001)

•

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

•

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

•

en:caused by mutations in the homolog of the mouse ank gene (ankh, 605145.0006)

•

en:caused by expanded cag trinucleotide repeats in the ataxin-1 gene (atx1, 601556.0001)

•

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 of chromosome 16q22 including the cbfb gene (121360)

•

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

•

en:caused by deletion of multiple genes in the mitochondrial dna

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 155-kd nucleoporin gene (nup155, 606694.0001)

•

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

•

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

•

en:caused by mutations in the ret protoncogene (ret, 1645761.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 11-beta-hydroxysteroid dehydrogenase, type ii gene (hsd11b2, 614232.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glycyl trna synthetase gene (gars, 600287.0001)

•

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

•

en:caused by mutation in the grainyhead-like 2 gene (grhl2, 608576.0003)

•

en:caused by mutation in the granulin precursor gene (grn, 138945.0015)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae fig4 gene (fig4, 609390.0009)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor receptor 2 gene (fgfr2, 176943.0035)

•

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

•

en:caused by mutation in the dihydrolipoamide acetyltransferase gene (dlat, 608770.0001)

•

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

•

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

•

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

•

en:caused by mutation in the cysteinyl-trna synthetase 2 gene (cars2, 612800.0001)

•

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

•

en:caused by mutation in the cytochrome c oxidase assembly factor 5 gene (coa5, 613920.0001)

•

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

•

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

•

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

•

en:caused by mutation in the distal-less homeobox-4 gene (dlx4, 601911.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 1 gene (fgfr1, 136350.0030)

•

en:caused by mutation in the dna polymerase, epsilon gene (pole, 174762.0002)

•

en:caused by mutation in the dynamin 1-like gene (dnm1l, 603850.0001)

•

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

•

en:caused by mutation in the dynein axonemal heavy chain 11 gene (dnah11, 603339.0001)

•

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

•

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

•

en:caused by mutation in the f-box only protein 38 gene (fbxo38, 608533.0001)

•

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

•

en:caused by mutation in the fibroblast growth factor 17 gene (fgf17, 603725.0001)

•

en:caused by deletion of 3.0-30.0mb on 14q11-q22

•

en:caused by mutation in the wd repeat-containing protein 62 (wdr62, 613583.0001)

•

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

•

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

•

en:caused by mutation in the o-phosphoserine trna-selenocysteine trna synthase gene (sepsecs, 613009.0001)

•

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

•

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

•

en:caused by mutation in the phosphatidylinositol glycan, class y gene (pigy, 610662.0001) creation date : cassandra l. kniffin : 2/11/2016

•

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

•

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

•

en:caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 2 gene (kcna2, 176262.0001)

•

en:caused by mutation in the potassium voltage-gated channel, subfamily h, member 2 gene or human ether-a-go-go related gene (kcnh2, 152427.0001)

•

en:caused by mutation in the prominin 1 gene (prom1, 604365.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the l-arginine:glycine amidinotransferase gene (gatm, 602360.0001)

•

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

•

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

•

en:caused by mutation in the matrilin 3 gene (matn3, 602109.0001)

•

en:caused by mutation in the methionyl-trna synthetase 2 gene (mars2, 609728.0004)

•

en:caused by mutation in the methionyl-trna synthetase gene (mars, 156560.0005)

•

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

•

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

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nipa-like domain-containing 4 gene (nipal4, 609383.0001)

•

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

•

en:caused by mutation in the sas6, c. elegans, homolog of, gene (sass6, 609321.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the whirlin gene (whrn, 607928.0001)

•

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

•

en:caused by mutation in the xylosyltransferase-2 gene (xylt2, 608125.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (pik3ca, 171834.0004)

•

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

•

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

•

en:cause by mutation in the beta-8 tubulin gene (tubb8, 616768.0001)

•

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

•

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

•

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

•

en:caused by mutation in the twist transcription factor gene (twist, 601622.0001)

•

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

•

en:caused by mutation in the superkiller viralicidic activity 2-like, s. cerevisiae homolog gene (skiv2l, 600478.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 16, member 1 gene (slc16a1, 600682.0003)

•

en:caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 gene (slc24a4, 609840.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the suppression of tumorigenicity 14 gene (st14, 606797.0001)

•

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

•

en:caused by mutation in the syntaxin-binding protein 1 gene (stxbp1, 602926.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transmembrane protein 98 gene (tmem98, 615949.0001)

•

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

•

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

•

en:caused by mutation in the kiaa0568 gene (kiaa0586, 610178.0006)

•

en:caused by mutation in the zinc finger protein of cerebellum-1 gene (zic1, 600470.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the bbs1 gene (bbs1, 209901.0001)

•

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

•

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

•

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 camp-dependent protein kinase, catalytic, gamma gene (prkacg, 176893.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cd3 antigen, gamma subunit gene (cd3g, 186740.0001)

•

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

•

en:caused by mutation in the coagulation factor v gene (f5, 612309.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 50 (ccdc50, 611051.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the neuroblastoma-derived v-myc avian myelocytomatosis viral-related oncogene (mycn, 164840.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 3-beta-hydroxysteroid dehydrogenase-2 gene (hsd3b2, 613890.0001)

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0004)

•

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

•

en:caused by mutation in the 65-kd yes-associated protein-1 gene (yap1, 606608.0001)

•

en:caused by mutation in the 72-kd signal recognition particle gene (srp72. 602122.0001)

•

en:caused by mutation in the acid beta glucosidase gene (gba, 606463.0001)

•

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

•

en:caused by mutation in the aldehyde dehydrogenase 18 family, member a1 gene (aldh18a1, 138250.0001)

•

en:caused by mutation in the aldehyde dehydrogenase 18 family, member a1 gene (aldh18a1, 138250.0010)

•

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

•

en:caused by mutation in the alpha-1 syntrophin gene (snta1, 601017.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the growth hormone secretagogue receptor gene (gshr, 601898.0001)

•

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

•

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

•

en:caused by mutation in the hect domain- and ankyrin repeat-containing e3 ubiquitin protein ligase-1 gene (hace1, 610876.0001)

•

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

•

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

•

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 drosophila period 2 gene (per2, 603426.0001)

•

en:caused by mutation in the gamma-b crystallin gene (crygb, 123670.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the insulin-like growth factor-1 receptor gene (igf1r, 147370.0001)

•

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

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0004)

•

en:caused by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the desmoglein 2 gene (dsg2, 125671.0001)

•

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

•

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

•

en:caused by mutation in the dolichyl-phosphate n-acetylglucosamine phosphotransferase gene (dpagt1, 191350.0002)

•

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

•

en:caused by mutation in the dual oxidase 2 gene (duox2, 606759.0001)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 13 gene (dnajc13, 614334.0001)

•

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

•

en:caused by mutation in the fibroblast growth factor receptor-2 gene (fgfr2, 176943.0010)

•

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

•

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

•

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

•

en:caused by mutation in the fms-like tyrosine kinase-4 gene (flt4, 136352.0001)

•

en:caused by mutation in the fibroblast growth factor receptor 1 gene (fgfr1, 136350.0011)

•

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

•

en:caused by mutation in the e homolog of the drosophila nk2 transcription factor (nkx2e, 600584.0004)

•

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

•

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

•

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

•

en:full trisomy 21, 94%

•

en:susceptibility conferred by mutations in the protein tyrosine phosphatase, receptor type, c polypeptide gene (ptprc, 151460.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the alpha subunit of the type iv voltage-gated sodium channel gene (scn4a, 603967.0001)

•

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

•

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

•

en:caused by mutations in the dna polymerase gamma gene (polg, 174763.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the thiamine pyrophosphokinase gene (tpk1, 606370.0001)

•

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

•

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

•

en:caused by mutation in the transducin-like enhancer of split 6 gene (tle6, 612399.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the urocanase domain-containing protein 1 gene (uroc1, 613012.0001)

•

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

•

en:caused by mutation in the wd repeat-containing protein 73 gene (wdr73, 616144.0001)

•

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

•

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

•

en:caused by mutations in the liver phosphorylase alpha-2 subunit gene (phka2, 306000.0001)

•

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

•

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

•

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 calpastatin gene (cast, 114090.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (chrnd, 100720.0010)

•

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

•

en:caused by mutation in the claudin 19 (cldn19, 610036.0001)

•

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

•

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

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0018)

•

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

•

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

•

en:caused by mutation in the beta filamin b gene (flnb, 603381.0001)

•

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

•

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

•

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

•

en:caused by mutations in the t-box 5 gene (tbx5, 601620.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the at-hook dna-binding motif-containing protein 1 gene (ahdc1, 615790.0001)

•

en:caused by mutation in the 3-@hydroxyisobutyryl-coa hydrolase gene (hibch, 610690.0001)

•

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

•

en:caused by mutation in the alpha-b crystallin gene (cryab, 123590.0005)

•

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

•

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

•

en:caused by mutation in the ankyrin repeat- and lem domain-containing protein 2 gene (ankle2, 616062.0001)

•

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

•

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

•

en:caused by mutation in the tectonic family, member 2 gene (tctn2, 613846.0001)

•

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

•

en:caused by mutation in the taf1 rna polymerase ii, tata box-binding protein-associated factor, 250-kd, gene (taf1, 313650.0002)

•

en:caused by mutation in the mothers against decapentaplegic, drosophila, homolog of, 3 gene (smad3, 603109.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial ribosomal protein l44 gene (mrpl44, 611849.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the necap endocytosis-associated protein 1 gene (necap1, 611623.0001)

•

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

•

en:caused by mutation in the ninein gene (nin, 608684.0001)

•

en:caused by mutation in the low density lipoprotein receptor-related protein 4 gene (lrp4, 604270.0011)

•

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

•

en:caused by mutation in the nuclear receptor subfamily 5, group a, member 1 gene (nr5a1, 184757.0016)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the insulin gene (ins, 176730.0001)

•

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

•

en:caused by mutation in the integrin, alpha-8 gene (itga8, 604063.0001)

•

en:caused by mutation in the ionotropic glutamate receptor, delta 2 gene (grid2, 602368.0002)

•

en:caused by mutation in the isg15 ubiquitin-like modifier gene (isg15, 146571.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nlr family, pyrin-domain containing 3 gene (nlrp3, 606416.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 13 (sodium-dependent citrate transporter), member 5 gene (slc13a5, 608305.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 35 (udp-galactose transporter), member 2 gene (slc35a2, 314375.0001)

•

en:caused by mutation in the solute carrier family 6 (neurotransmitter transporter), member 17 gene (slc6a16, 610299.0001)

•

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

•

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

•

en:caused by mutation in the sry (sex determining region y)-box 2 gene (sox2, 184427.0001)

•

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

•

en:caused by mutation in the syntaxin 11 gene (stx11, 605014.0001)

•

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

•

en:caused by mutation in the rna polymerase i, subunit c gene (polr1c, 610060.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphoribosylpyrophosphate synthetase-1 gene (prps1, 311850.0013)

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, isk-related family, member 2 gene (kcne2, 603796.0001)

•

en:caused by mutation in the prolactin receptor gene (prlr, 176761.0002)

•

en:caused by mutation in the rna-specific adenosine deaminase gene (adar, 146920.0007)

•

en:caused by mutation in the protein-o-mannose kinase gene (pomk, 615247.0003)

•

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 protocadherin 19 gene (pcdh19, 300460.0001).

•

en:caused by mutation in the renin gene (ren, 179820.0004)

•

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

•

en:caused by mutation in the ring finger- and spry domain-containing protein-1 gene (rspry1, 616585.0001)

•

en:caused by mutation in the ring finger protein 170 gene (rnf170, 614649.0001)

•

en:caused by mutation in the complement component 2 gene (c2, 613927.0001)

•

en:caused by mutation in the ofd1 gene (ofd1, 300170.0007).

•

en:caused by mutation in the complement factor h-related 5 gene (cfhr5, 608593.0001)

•

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

•

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

•

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

•

en:caused by mutation in the protein-o-mannose kinase gene (pomk, 615247.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the potassium channel, voltage-gated, subfamily h, member-1 gene (kcnh1, 603305.0005)

•

en:caused by mutation in the ribosomal protein l26 gene (rpl26, 603704.0001)

•

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

•

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

•

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

•

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

•

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 presenilin-2 gene (psen2, 600759.0008)

•

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

•

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

•

en:caused by mutation in the nuclear factor kappa-beta, subunit 2 gene (nfkb2, 164012.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0001)

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase, subunit 3 gene (mtnd3, 516002.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-2 gene (pex2, 170993.0002)

•

en:caused by mutation in the phosphatidylinositol glycan, class v gene (pigv, 610274.0001)

•

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

•

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

•

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

•

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

•

en:contiguous gene deletion of at least 16mb encompassing 39 genes on 13q14

•

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

•

en:caused by mutation in the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

en:susceptibility conferred by mutation in the promoter of the nitric oxide synthase-1 gene (nos1, 163731.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the small integral membrane protein 1 gene (smim1, 615242.0001)

•

en:caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporters), member 1 gene (slc12a1, 600839.0001)

•

en:caused by mutation in the solute carrier family 17, member 9 gene (slc17a9, 612107.0001)

•

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

•

en:caused by mutation in the solute carrier family 26, member 5 gene (slc26a5, 604943.0002)

•

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

•

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 taperin gene (tprn, 613354.0001)

•

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

•

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

•

en:caused by mutation in the testis-expressed gene-11 gene (tex11, 300311.0001)

•

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

•

en:caused by mutation in the transcription factor sp7 gene gene (sp7, 606633.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cyclin d2 gene (ccnd2, 123833.0001)

•

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

•

en:caused by mutation in the ferm domain-containing protein 4a gene (frmd4a, 616305.0001)

•

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

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 121050.0001)

•

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

•

en:caused by mutation in the fibulin 5 gene (fbln5, 604580.0003)

•

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

•

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

•

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

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 1 gene (flvcr1, 609144.0001)

•

en:caused by mutation in the gene encoding alpha-b crystallin (cryab, 123590.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the growth/differentiation factor 5 gene (gd5, 601146.0005)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the desmin gene (des, 125660.0018)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the exostosin glycosyltransferase 2 gene (ext2, 608210.0008)

•

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

•

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

•

en:caused by mutation in the enamelin gene (enam, 606585.0003)

•

en:caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (eef1a2, 602959.0002)

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 8 gene (ercc6, 609413.0009)

•

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

•

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

•

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

•

en:caused by mutation in the growth arrest-specific 8 gene (gas8, 605178.0001)

•

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

•

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

•

en:caused by mutation in the interleukin 10 receptor, alpha gene (il10ra, 146933.0001)

•

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

•

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

•

en:caused by mutation in the iroquois homeobox protein-5 gene (irx5, 606195.0001)

•

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

•

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

•

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 kiss1 metastasis suppressor gene (kiss1, 603286.0001)

•

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

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0045)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the hps3 gene (hps3, 606118)

•

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

•

en:caused by mutation in the homolog of s. cerevisiae cell division cycle 6 gene (cdc6, 602627.0001)

•

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

•

en:caused by mutation in the heat-shock 27-kd protein 1 gene (hspb1, 602195.0001)

•

en:caused by mutation in the hemoglobin beta gene (hbb, 141900.0437)

•

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

•

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

•

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

•

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

•

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 the s. cerevisiae coq2 gene (coq2, 609825.0001)

•

en:caused by mutation in the homolog of the c. elegans presenilin enhancer 2 gene (psenen, 607632.0001)

•

en:caused by mutation in the homolog of the drosophila dicer 1 gene (dicer1, 606241.0001)

•

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

•

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 e. coli muts 6 gene (msh6, 600678.0012)

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae brf1 gene (brf1, 604902.0001)

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9089110 • caches: c1=16 c2=1009 c3=7

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