Diko : en:caused by mutation in the proteasome maturation protein gene (pomp, 613386.0001)

en:caused by mutation in the proteasome maturation protein gene (pomp, 613386.0001)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3275997

Associations d'idées

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1000

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

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0001)

•

en:caused by mutation in the trna nucleotidyltransferase, cca-adding, 1 gene (trnt1, 612907.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glycoprotein ib, platelet, alpha polypeptide gene (gp1ba, 606672.0006)

•

en:caused by mutation in the kiss1 metastasis suppressor gene (kiss1, 603286.0001)

•

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

•

en:caused by mutation in the perlecan gene (hspg2, 142461.0001)

•

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

•

en:caused by mutation in the chaperonin-containing t-complex peptide-1 subunit 5 gene (cct5, 610150.0001)

•

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

•

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

•

en:caused by mutation in the homeobox d10 gene (hoxd10, 142984.0001)

•

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

•

en:caused by mutation in the family with sequence similarity 111, member a, gene (fam111a, 615292.0002)

•

en:caused by mutations in the homolog of drosophila muscle segment homeo box 1 gene (msx1, 142983.0003)

•

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

•

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

•

en:caused by mutation in the adenosine monophosphate deaminase 1 gene (ampd1, 102770.0001)

•

en:caused by mutations in the sclerostin gene (sost, 605740.0001)

•

en:caused by mutations in the parathyroid hormone receptor 1 gene (pthr1, 168468.0003)

•

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

•

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

•

en:caused by mutation in the laminin alpha-3 gene (lama3, 600805.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the serologically defined colon cancer antigen 8 gene (sdccag8, 613524.0004)

•

en:caused by mutation in the purinergic receptor p2x, ligand-gated ion channel, 2 gene (p2rx2, 600844.0001)

•

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

•

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

•

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

•

en:caused by mutation in the collagen vi, alpha-2 polypeptide gene (col6a2, 120240.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 6 gene (ercc6, 609413.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by a 2.5- to 3.8-kb insertion containing pentanucleotide expansion repeats including (tggaa)n within an intron of the brain-expressed, associated with nedd4 gene (bean, 612051.0001)

•

en:caused by mutation in the erythropoeitin receptor gene (epor, 133171.0001)

•

en:caused by mutation in the cadherin-related family, member 1 gene (cdhr1, 609502.0001)

•

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

•

en:caused by mutation in the bbs12 gene (bbs12, 610683.0001)

•

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

•

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

•

en:caused by mutations in the mucolipin-1 gene (mcoln1, 605248.0001)

•

en:caused by mutation in the rab3 gtpase-activating protein subunit 2 gene (rab3gap2, 609275.0001)

•

en:caused by mutation in the solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 gene (slc24a5, 609802.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the piezo-type mechanosensitive ion channel component 2 gene (piezo2, 613629.0004)

•

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

•

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

•

en:caused by mutation in the mothers against decapentaplegic, drosophila homolog of, 4 gene (smad4, 600993.0007)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the claudin 16 gene (cldn16, 603959.0001)

•

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

•

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

•

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

•

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

•

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 taf2 ran polymerase ii, tata box-binding protein-associated factor, 150kd gene (taf2, 604912.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0001)

•

en:caused by mutation in the carbonic anhydrase va gene (ca5a, 114761.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial transfer rna lysine gene (mttk, 590060.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0018)

•

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

•

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

•

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

•

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

•

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

•

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

•

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 homolog of the s. cerevisiae fig4 gene (fig4, 609390.0016)

•

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

•

en:contiguous gene deletion of at least 16mb encompassing 39 genes on 13q14

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the g protein-coupled receptor 98 gene (gpr98, 602851.0002)

•

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

•

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 arginyl-trna synthetase 1 gene (rars, 107820.0001)

•

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

•

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

•

en:caused by mutation in the palmitoyl-protein thioesterase 1 gene (ppt1, 600722.0001).

•

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

•

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

•

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

•

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

•

en:caused by mutation in the pulmonary-associated surfactant protein b gene (sftpb, 178640.0001)

•

en:caused by mutation in the myosin viia gene (myo7a, 276903.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10a gene (wnt10a, 606268.0002)

•

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

•

en:caused by mutation in the serine protease inhibitor, kunitz-type, 2 gene (spint2, 605124.0001)

•

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

•

en:(prph2, 179605.0008)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen vi, alpha-3 polypeptide gene (col6a3, 120250.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the son of sevenless, drosophila, homolog 1 gene (sos1, 182530.0001)

•

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

•

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

•

en:caused by mutation in the delta-aminolevulinate dehydratase gene (alad, 125270.0001)

•

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

•

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

•

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

•

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 shh (600725) regulatory element in the homolog of the mouse limb region 1 gene (lmbr1, 605522.0010)

•

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

•

en:caused by mutation in the transmembrane protein 70 gene (tmem70, 612418.0001)

•

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

•

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

•

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

•

en:caused by deletion of mtdna

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-stimulating activity polypeptide gene (gnas, 139320.0002)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily b, member 2 gene (dnajb2, 604139.0001)

•

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

•

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

•

en:caused by mutation in the ubiquitin protein ligase e3a gene (ube3a, 601623.0001)

•

en:caused by mutation in the synaptic nuclear envelope protein 1 gene (syne1, 608441.0008).

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tachykinin receptor-3 gene (tac3r, 162332.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the iroquois homeobox protein-5 gene (irx5, 606195.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein-o-mannose kinase gene (pomk, 615247.0003)

•

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

•

en:caused by mutation in the pten-induced putative kinase-1 gene (pink1, 608309.0001)

•

en:caused by mutation in the seipin gene (bscl2, 606158.0013)

•

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

•

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

•

en:caused by mutation in the ras guanyl nucleotide-releasing protein 2 gene (rasgrp2, 605577.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphodiesterase-6g, cgmp-specific, rod, gamma gene (pde6g, 180073.0001)

•

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

•

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

•

en:caused by mutation in the mothers against decapentaplegic, drosophila, homolog of, 6 gene (smad6, 602931.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial trna-lysine gene (mttk, 590060.0005)

•

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

•

en:caused by mutation in the muscle-specific phosphorylase kinase subunit a1 gene (phka1, 311870.0001)

•

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

•

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

•

en:caused by mutation in the myosin light chain kinase gene (mylk, 600922.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nuclear-encoded mitochondrial thymidine kinase gene (tk2, 188250.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the uromodulin gene (umod, 191845.0001)

•

en:caused by mutation in the usherin gene (ush2a, 608400.0001).

•

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

•

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

•

en:caused by mutation in the von hippel-lindau gene (vhl, 608537.0001)

•

en:caused by mutation in the von willebrand factor gene (vwf, 613160.0028)

•

en:caused by mutation in the was gene (was, 300392.0004)

•

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

•

en:caused by mutation in the zinc finger protein-141 gene (znf141, 194648.0001)

•

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

•

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

•

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

•

en:contiguous gene syndrome caused by duplication (269kb) on 9q21.11 including the tight junction protein 2 (tjp2, 607709) gene and the family with sequence similarity 189, member a2 (fam189a2, 607710) gene

•

en:supernumerary inv dup(22)(q11) chromosome, occasionally due to interstitial duplication of 22q11

•

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

•

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

•

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

•

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

•

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

•

en:a contiguous gene syndrome caused by deletion of the alpha-1 hemoglobin (141800) and alpha-2 hemoglobin (141850) genes

•

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

•

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

•

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

•

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

•

en:caused by mutation in the synapsin-1 gene (syn1, 313440.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tenascin c gene (tnc, 187380.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the trna 5-methylaminomethyl-2-thiouridylate methyltransferase gene (trmu, 610230.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alsin gene (als2, 606352.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta retinoic acid receptor (rarb, 180220.0001)

•

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

•

en:caused by mutation in the alpha-n-acetylgalactosaminidase gene (naga, 104170.0002)

•

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

•

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

•

en:caused by mutation in the cardiac muscle alpha actin gene (actc1, 102540.0003)

•

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

•

en:caused by mutation in the catalytic subunit of the dolichyl-phosphate mannosyltransferase 1 gene (dpm1, 603503.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha subunit of the hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase (hadha, 600890.0003)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 103 (ccdc103, 614677.0001)

•

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

•

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

•

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

•

en:bcl2 gene on chromosome 18q21 is juxtaposed to igh gene at 14q32, resulting chimeric bcl2-igh mrna is expressed blocking apoptosis

•

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

•

en:caused by a 5.1-mb duplication of chromosome xq27.3-q28

•

en:caused by a trinucleotide repeat expansion (ctg)n in the dystrophia myotonica-protein kinase gene (dmpk, 605377.0001)

•

en:caused by contraction of a d4z4 repeat array at chromosome 4q35

•

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

•

en:caused by fusion of the fip1-like 1 gene (fip1l1, 607686) and the platelet-derived growth factor receptor-alpha gene (pdgfra, 173490)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the sodium channel, voltage-gated, type v, alpha polypeptide gene (scn5a, 600163.0009)

•

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

•

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

•

en:caused by mutation in the abelson helper integration site 1 gene (ahi1, 608894.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the a. nidulans nude 1 gene (nde1, 609449.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gtp cyclohydrolase i gene (gch1, 600225.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila aristaless homeobox gene (arix, 602753.0001)

•

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 s. cerevisiae pet100 gene (pet100, 614770.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0003)

•

en:caused by mutation in the dna methyltransferase 1 gene (dnmt1, 126375.0003)

•

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

•

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

•

en:caused by mutation in the cyclin-dependent kinase 6 gene (cdk6, 603368.0001)

•

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

•

en:caused by mutation in the cyclin d2 gene (ccnd2, 123833.0001)

•

en:caused by mutation in the cytochrome c oxidase, subunit iv, isoform 2 gene (cox4i2, 607976.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the epidermal growth factor gene (egfr, 131550.0007)

•

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

•

en:caused by mutation in the ets2 repressor factor gene (erf, 611888.0001)

•

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

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 4 gene (ercc4, 133520.0001)

•

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

•

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

•

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

•

en:caused by an expanded hexanucleotide repeat (ggggcc)n in the chromosome 9 open reading frame 72 gene (c9orf72, 614260.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase, subunit 3 gene (mtnd3, 516002.0003)

•

en:caused by mutation in the nephrocystin 3 gene (nphp3, 608002.0001)

•

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

•

en:caused by mutation in the nucleolar protein family a, member 3 gene (nola3, 606471.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the potassium channel, inwardly rectifying, subfamily j, member 10 gene (kcnj10, 602208.0001)

•

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

•

en:caused by mutation in the potassium voltage-gated channel, isk-related subfamily, member 1 gene (kcne1, 176261.0001)

•

en:caused by mutation in the mitochondrial transfer rna cysteine gene (mttc, 590020.0001)

•

en:caused by mutation in the mitochondrial complex i, subunit nd6 gene (mtnd6, 516006.0002)

•

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

•

en:caused by mutation in the latent transforming growth factor-beta binding protein 4 gene (ltbp4, 604710.0001)

•

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

•

en:caused by mutation in the interferon regulatory factor 6 gene (irf6, 607199.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the leucine-rich repeat-containing protein 6 gene (lrrc6, 614930.0001)

•

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

•

en:caused by mutation in the leucine zipper transcription factor-like 1 gene (lztfl1, 606568.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the methionine adenosyltransferase 1 gene (mat1a, 610550.0001)

•

en:caused by mutation in the minichromosome maintenance deficient domain containing-1 gene (mcmdc1, 610098.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ventral anterior homeobox-1 gene (vax1, 604924.0001)

•

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

•

en:caused by mutation in the transglutaminase 1 gene (tgm1, 190195.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 10a gene (wnt10a, 606268.0001)

•

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

•

en:caused by mutation in the zinc finger- and btb domain-containing protein 24 gene (zbtb24, 614064.0001)

•

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

•

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

•

en:features other than acd/mpv are variably present

•

en:rare cases secondary to chromosome translocation

•

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

•

en:susceptibility conferred by mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

•

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

•

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

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0012)

•

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

•

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

•

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

•

en:caused by mutation in the purine nucleoside phosphorylase gene (pnp, 164050.0001)

•

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

•

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

•

en:caused by mutation in the ras-associated protein rab33b gene (rab33b, 605950.0001)

•

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

•

en:caused by mutation in the regulatory factor x, ankyrin repeat-containing gene (rfxank, 603200.0001)

•

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

•

en:caused by mutation in the ribosomal protein l21 gene (rpl12, 603636.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the signal transducer and activator of transcription 1 gene (stat1, 600555.0008)

•

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

•

en:caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporters), member 1 gene (slc12a1, 600839.0001)

•

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

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605921.0004)

•

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

•

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

•

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 inositol polyphosphate phosphatase-like 1 gene (inppl1, 600829.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the bruton agammaglobulinemia tyrosine kinase gene (btk, 300300.0001)

•

en:caused by mutation in the c20orf7 gene (612360.0001)

•

en:caused by mutation in the carbamoylphosphate synthetase i gene (cps1, 608307.0001)

•

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

•

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

•

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

•

en:caused by mutation in the carnitine palmitoyltransferase ia gene (cpt1a, 600528.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the gap junction protein, beta-6 gene (gjb6, 604418.0002)

•

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

•

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

•

en:caused by mutations in the properdin p factor gene (pfc, 300383.0001)

•

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

•

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

•

en:caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (ugt1a1, 191740.0010)

•

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

•

en:caused by mutation in the amelogenin gene (amelx, 300391.0001)

•

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

•

en:caused by mutation in the adaptor-related protein complex 1, sigma-1 subunit gene (ap1s1, 603531.0001)

•

en:caused by mutation in the adenosine deaminase, rna-specific gene (adar, 601059.0001)

•

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

•

en:caused by mutation in the alms1 gene (alms1, 606844.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen x, alpha-1 polypeptide gene (col10a1, 120110.0001)

•

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

•

en:caused by mutation in the fras1-related extracellular matrix protein 1 gene (frem1, 608944.0004)

•

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

•

en:caused by mutation in the fused in sarcoma gene (fus, 137070.0007)

•

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

•

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

•

en:caused by mutation in the gene encoding exophilin-5 (exph5, 612878.0001)

•

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

•

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

•

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

•

en:caused by mutation in the g protein-coupled receptor 56 gene (gpr56, 604110.0001)

•

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

•

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

•

en:caused by mutation in the hemoglobin beta gene (hbb, 141900.0437)

•

en:caused by mutation in the hemoglobin gamma b gene (hbg2, 142250.0026)

•

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

•

en:caused by mutation in the homolog of s. cerevisiae precursor mrna-processing factor-4 gene (prpf4, 607795.0001)

•

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

•

en:caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (vps13b, 607817.0001)

•

en:caused by mutation in the immunoglobulin mu-binding protein 2 gene (ighmbp2, 600502.0010)

•

en:caused by mutation in the complement component-8, beta polypeptide gene (c8b, 120960.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the contactin 2 gene (cntn2, 190197.0001)

•

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

•

en:caused by mutation in the d-2-hydroxyglutarate dehydrogenase gene (d2hgd, 609186.0001)

•

en:caused by mutation in the diacylglycerol kinase, epsilon, 64-kd gene (dgke, 601440.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dna methyltransferase 3a gene (dnmt3a, 602769.0001)

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 4 gene (ercc4, 133520.0004)

•

en:caused by mutation in the fibroblast growth factor 20 gene (fgf20, 605558.0002)

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor receptor-1 gene (fgfr1, 136350.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the natriuretic peptide precursor a gene (nppa, 108780.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the patatin-like phospholipase domain-containing protein 6 (pnpla6, 603197.0004)

•

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

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory, 1 gene (pik3r1, 171833.0002)

•

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

•

en:caused by mutation in the myosin, heavy chain 9, non-muscle gene (myh9, 160775.0005)

•

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

•

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

•

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

•

en:caused by mutation in the myelin-oligodendrocyte glycoprotein (mog, 159465.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae, cytochrome c oxidase 20 gene (cox20, 614698.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor-6 gene (prpf6, 613979.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae rad51a gene (rad51a, 179617.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0017)

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial aconitase gene (aco2, 100850.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the v-raf-1 murine leukemia viral oncogene homolog-1 gene (raf1, 164760.0005)

•

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

•

en:caused by mutation in the voltage-gated, type ii sodium channel, alpha subunit (scn2a, 182390.0008)

•

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

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 1 gene (wnt1, 164820.0001)

•

en:caused by mutation in the wolframin gene (wfs1, 606201.0020)

•

en:caused by mutation in the ww domain-containing oxidoreductase gene (wwox, 605131.0002)

•

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

•

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

•

en:caused by mutation in the zinc finger fyve-domain containing protein-27 gene (zfyve27, 610243.0001)

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0008)

•

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

•

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 recq protein-like 2 gene (recql2, 604611.0001)

•

en:caused by mutation in the polyglutamine-binding protein-1 gene (pqbp1, 300463.0001)

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, isk-related subfamily, member 1 gene (kcne1, 176261.0003)

•

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

•

en:caused by mutation in the presynaptic glycine transporter-2 gene (slc6a5, 604159.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the seryl-trna synthetase 2 gene (sars2, 612804.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by a trinucleotide repeat expansion (cag)n in the ataxin 8 gene (atxn8, 613289.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cd36 antigen gene (cd36, 173510.0001)

•

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

•

en:caused by mutation in the chloride intracellular channel 2 gene (clic2, 300138.0001)

•

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

•

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

•

en:caused by mutation in the chromosome 19 open reading frame 12 gene (c19orf12, 614297.0001)

•

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

•

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

•

en:caused by duplication of 0.9 - 1.2 mb on 8q22.1

•

en:caused by microdeletions of 11p13

•

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

•

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

•

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

•

en:caused by mutations in the cytochrome p450, subfamily xxviia, polypeptide 1 gene (cyp27a1, 213700.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the sry-box 9 gene (sox9, 114290.0001)

•

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

•

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

•

en:caused by mutations in the udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase gene (gne, 603824.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila bicaudal d, 2 gene (bicd2, 609797.0001)

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor gene-14 (fgf14, 601515.0001)

•

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

•

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

•

en:caused by mutation in the filamin b gene (flnb, 603381.0006)

•

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

•

en:caused by mutation in the forkhead box p2 gene (foxp2, 605317.0001)

•

en:caused by mutation in the frizzled 4 gene (fzd4, 604579.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the hexose-6-phosphate dehydrogenase gene (h6pd, 138090.0001)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of chlamydomonas poc1 centriolar protein a gene (poc1a, 614783.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 122 gene (ift122, 606045.0001).

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 612570.0011)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0030)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dolichyl-phosphate mannosyltransferase 2, regulatory subunit gene (dpm2, 603564.0001)

•

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

•

en:caused by mutation in the dopa decarboxylase gene (ddc, 107930.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-14 gene (pex14, 601791.0001)

•

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

•

en:caused by mutation in the phospholipase a2, group vi gene (pla2g6, 603604.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1b, alpha subunit gene (pafah1b1, 601545.0001)

•

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

•

en:caused by mutation in the polymerase (dna-directed), delta 1, catalytic subunit gene (pold1, 174761.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin 10 gene (krt10, 148080.0014)

•

en:caused by mutation in the keratin 14 gene (krt14, 148066.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the low-density lipoprotein receptor-related protein 5 gene (lrp5, 603506.0013)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the proliferating cell nuclear antigen gene (pcna, 176740.0001)

•

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

•

en:caused by mutation in the integrin-beta-4 gene (itgb4, 147557.0001)

•

en:caused by somatic deletion of 1 allele of the ribosomal protein s14 gene (rps14, 130620)

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein 11 gene (wdr11, 606417.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by trinucleotide repeat expansion (cag)n in the drpla gene (drpla, 607462.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:keratosis linearis with ichthyosis congenita and sclerosing keratoderma

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 29 (nucleoside transporter), member 3 gene (slc29a3, 612373.0001)

•

en:caused by mutation in the protocadherin 19 gene (pcdh19, 300460.0001).

•

en:caused by mutation in the ras-associated protein rab18 gene (rab18, 602207.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha subunit gene (scn5a, 600163.0004)

•

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

•

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

•

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

•

en:caused by mutation in the sperm-associated antigen 1 gene (spag1, 603395.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transmembrane protein 231 gene (tmem231, 614949.0001)

•

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

•

en:caused by mutation in the tumor protein p73-like gene (tp73l, 603273.0011)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0001)

•

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

•

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

•

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

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0020)

•

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

•

en:caused by mutation in the ankyrin 3 gene (ank3, 600465.0001)

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily g, member 8 gene (abcg8, 605460.0001)

•

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

•

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

•

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

•

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 the avian myelocytomatosis viral (v-myc) oncogene homolog (myc, 190080.0001)

•

en:caused by mutation in the axonemal dynein assembly factor 3 gene (dnaaf3, 614566.0001)

•

en:caused by mutation in the beta acid glucosidase 2 gene (gba2, 609471.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0001)

•

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

•

en:contiguous gene syndrome involving mutation of genes on 7q11.2

•

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

•

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

•

en:susceptibility conferred by mutation in the homolog of the drosophila bicaudal c gene (bicc1, 614295.0001)

•

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

•

en:susceptibility conferred by mutation in the paired box gene 4 (pax4, 167413.0022 )

•

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

•

en:caused by a 1.75 mb deletion at 15q24

•

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

•

en:caused by deletion of 3.7mb on chromosome 6q13-q14

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the nijmegen breakage syndrome gene (nbs1, 602667.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the f-box only protein 7 gene (fbxo7, 605648.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gamma g hemoglobin gene (hbg2, 142250.0025)

•

en:caused by mutation in the ganglioside-induced differentiation-associated protein-1 gene (gdap1, 606598.0006)

•

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

•

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

•

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

•

en:caused by mutation in the glycerol-3-phosphate dehydrogenase 1 gene (gpd1, 138420.0001)

•

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 glypican 3 gene (gpc3, 300037.0001)

•

en:caused by mutation in the gnas complex locus, antisense transcript (gnasas, 610540.0001)

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae atp-dependent dna helicase hfm1 gene (hfm1, 615684.0001)

•

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

•

en:caused by mutation in the centrosome spindle pole-associated protein 1 gene (cspp1, 611654.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 4 gene (eif2ak4, 609280.0001)

•

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

•

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

•

en:caused by mutation in the cgmp-dependent regulatory protein kinase, type 1 gene (prkg1, 176894.0001)

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0005)

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0009).

•

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

•

en:caused by mutation in the cyclin-dependent kinase inhibitor-1b gene (cdkn1b, 600778.0001)

•

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

•

en:caused by mutation in the cytochrome c oxidase subunit 15 gene (cox15, 603646)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the endoplasmic reticulum lipid raft-associated protein 2 gene (erlin2, 611605.0001)

•

en:caused by mutation in the doublecortin domain-containing protein 2 gene (dcdc2, 605755.0001)

•

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

•

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

•

en:caused by mutation in the cytokine-like factor 1 gene (crlf1, 604237.0001)

•

en:caused by mutation in the tenascin xb gene (tnxb, 600985.0001)

•

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

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

•

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

•

en:caused by mutation in the synaptic nuclear envelope protein-1 gene (syne1, 608441.0001)

•

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

•

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

•

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 six-transmembrane epithelial antigen of prostate 3 gene (steap3, 609671.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

en:susceptibility conferred by duplication of the homolog of the mouse t brachyury gene (t, 601397)

•

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

•

en:contiguous gene syndrome caused by 6-mb duplication of 15q11-q13

•

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

•

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

•

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 tropomyosin 3 gene (tpm3, 191030.0005)

•

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

•

en:caused by mutation in the x-prolyl aminopeptidase 3 gene (xpnpep3, 613553.0001)

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0015)

•

en:caused by mutation in the wt1 gene (wt1, 607102.0010)

•

en:caused by mutation in the wingless-type mmtv integration site family, member 7a gene (wnt7a, 601570.0002)

•

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

•

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

•

en:caused by mutation in the udp-gal:beta-gal beta-1,3-galactosyltransferase polypeptide 6 gene (b3galt6, 615291.0001)

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8234635 • caches: c1=6 c2=1002 c3=1

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