Diko : en:caused by mutation in the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

en:caused by mutation in the v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

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umls:C3809751

Associations d'idées

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1000

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

•

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

•

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

•

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

•

en:caused by mutations in the lim homeo box transcription factor 1, beta gene (lmx1b, 602575.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protocadherin 19 gene (pcdh19, 300460.0001).

•

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

•

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

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha polypeptide gene (scn5a, 600163.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, kqt-like subfamily, member 3 gene (kcnq3, 602232.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the activin a receptor, type i gene (acvr1, 102576.0001)

•

en:caused by deletion of 3.7mb on chromosome 6q13-q14

•

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

•

en:caused by mutation in the nlr family, caspase recruitment domain-containing 4 gene (nlrc4, 606831.0003)

•

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

•

en:caused by mutation in the tetratricopeptide repeat domain 21b gene (ttc21b, 612014.0004)

•

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

•

en:caused by mutation in the prolactin receptor gene (prlr, 176761.0002)

•

en:caused by mutation in the pericentrin 2 gene (pcnt2, 605925.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gene encoding alpha-b crystallin (cryab, 123590.0002)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 5 gene (eif2b5, 603945.0001)

•

en:caused by mutation in the bone morphogenetic protein 4 (bmp4, 112262.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the desmin gene (des, 125660.0018)

•

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

•

en:caused by mutation in the retinoblastoma-binding protein 8 gene (rbbp8, 604124.0003)

•

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

•

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

•

en:caused by mutation in the v-akt murine thymoma viral oncogene homolog-2 gene (akt2, 164731.0002)

•

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

•

en:caused by mutation in the homolog of the drosophila atonal 7 gene (atoh7, 609875.0001)

•

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

•

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

•

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

•

en:caused by mutation in the dual-specificity tyrosine phosphorylation-regulated kinase 1b gene (dyrk1b, 604556.0001)

•

en:caused by mutation in the keratin 5 gene (krt5, 148040.0001)

•

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

•

en:molecular basis

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cytochrome b-245, beta polypeptide gene (cybb, 300481.0022)

•

en:caused by imprinting defect on chromosome 14q32

•

en:caused by deletion of 1.5mb on 3q29 encompassing 22 genes

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae precursor rna-processing factor 31 gene (prpf31, 606419.0001)

•

en:caused by mutations in receptor tyrosine kinase-like orphan receptor 2 gene (ror2, 602337.0001)

•

en:caused by mutation in the type 2 bone morphogenetic protein receptor gene (bmpr2, 600799.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the hcls1-associated protein x1 (hax1, 605998.0001).

•

en:caused by mutation in the fibrillin 1 gene (fbn1, 134797.0001)

•

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

•

en:caused by mutation in the calcium- and integrin-binding protein 2 gene (cib2, 605564.0001)

•

en:caused by mutation in the cadherin 23 gene (cdh23, 605516.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the c. elegans homolog of the ectopic p-granules autophagy protein 5 gene (epg5, 615068.0001)

•

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

•

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

•

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

•

en:caused by mutations in the ras-associated protein rab27a gene (rab27a, 603868.0001)

•

en:caused by mutations in the prion protein gene (prnp, 176640.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (pik3r1, 171833.0001)

•

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

•

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

•

en:caused by mutation in the glyceronephosphate o-acyltransferase gene (gnpat, 602744.0001)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily b, member 2 gene (dnajb2, 604139.0003)

•

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

•

en:caused by mutation in the cln2 gene (cln2, 607998.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fumarylacetoacetase gene (fah, 613871.0001)

•

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

•

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

•

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

•

en:caused by mutation in the inversin gene (invs, 243305.0001)

•

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

•

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

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0015)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the presenilin-2 gene (psen2, 600759.0008)

•

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

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0001)

•

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

•

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

•

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

•

en:caused by mutation in the thyroid transcription factor-1 gene (titf1, 600635.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the endothelin receptor type b gene (ednrb, 131244.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ephrin b1 gene (efnb1, 300035.0001)

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0005)

•

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

•

en:caused by mutation in the recombinase activating gene 1 (rag1, 179615.0005)

•

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

•

en:caused by mutation in the trafficking protein particle complex, subunit 9 gene (trappc9, 611966.0001)

•

en:caused by a 1.75 mb deletion at 15q24

•

en:caused by mutation in the tubulin, alpha-8 gene (tuba8, 605472.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the leucyl-trna synthetase 2 gene (lars2, 604544.0001)

•

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

•

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

•

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

•

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 deletion of multiple genes in the mitochondrial dna

•

en:caused by mutation in both the gap junction protein, beta-2 gene (gjb2, 121011.0014) and the gap junction protein, beta-3 gene (gjb3, 603324.0011)

•

en:caused by mutations in the homolog of the mouse noggin gene (nog, 602991.0006)

•

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

•

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

•

en:caused by mutation in the neurofibromin gene (nf1, 162200.0001)

•

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

•

en:caused by mutation in the zinc finger protein of cerebellum 2 gene (zic2, 603073.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha subunit of the voltage-gated sodium channel type i gene (scn1a, 182389.0007)

•

en:caused by mutation in the homolog of the yeast cleavage and polyadenylation factor i subunit 1 gene (clp1, 608757.0001)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae sco1 gene (sco1, 603644.0001)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gamma g hemoglobin gene (hbg2, 142250.0025)

•

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

•

en:caused by mutation in the homeobox d13 gene (hoxd13, 142989.0001)

•

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

•

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

•

en:caused by mutation in the diacylglycerol o-acyltransferase 1 gene (dgat1, 604900.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cancer susceptibility candidate 5 gene (casc5, 609173.0001)

•

en:caused by mutation in the aryl hydrocarbon receptor nuclear translocator-2 gene (arnt2, 606036.0001)

•

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

•

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

•

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

•

en:caused by mutation in the polymerase i, rna, subunit c gene (polr1c, 610060.0001)

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the adaptor-related protein complex 1, sigma-3 subunit gene (ap1s3, 615781.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin-14 gene (krt14, 148066.0004).

•

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

•

en:caused by mutation in the growth/differentiation factor 5 gene (gd5, 601146.0005)

•

en:caused by mutation in the family with sequence similarity 134, member b gene (fam134b, 613114.0001)

•

en:caused by mutation in the alpha-tubulin 1a gene (tuba1a, 602529.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila dicer 1 gene (dicer1, 606241.0001)

•

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

•

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

•

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

•

en:caused by mutation in the nk2 homeobox-5 gene (nkx2-5, 600584.0021)

•

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 pancreas transcription factor 1, alpha subunit gene (ptf1a, 607094.0001)

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-2 gene (pex2, 170993.0001)

•

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

•

en:caused by mutation in the plastin 3 gene (pls3, 300131.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0029)

•

en:caused by mutation in the polo-like kinase 4 gene (plk4, 605031.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae brf1 gene (brf1, 604902.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the kinesin family member 5c gene (kif5c, 604593.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the member-5 subfamily-j inwardly rectifying potassium channel gene (kcnj5, 600734.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0001)

•

en:caused by mutation in the pr domain-containing protein-16 gene (prdm16, 605557.0001)

•

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

•

en:caused by mutation in the transmembrane protein 126a gene (tmem126a, 612988.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein 72 gene (wdr72, 613214.0001)

•

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

•

en:caused by mutation in the wnk lysine deficient protein kinase 4 gene (wnk4, 601844.0001)

•

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 protein-141 gene (znf141, 194648.0001)

•

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

•

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

•

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

•

en:caused by trinucleotide repeat expansion (cgg)n in the fragile site mental retardation gene (fmr1, 309550.0004)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily m, member 6 gene (trpm6, 607009.0001)

•

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

•

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

•

en:caused by mutation in the seipin gene (bscl2, 606158.0017)

•

en:caused by mutation in the rab6-interacting golgin gene (gorab, 607893.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ring finger protein 170 gene (rnf170, 614649.0001)

•

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

•

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

•

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

•

en:caused by mutation in the synaptophysin gene (syp, 313475.0001)

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26 (sulfate transporter), member 2 gene (slc26a2, 606718.0002)

•

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

•

en:caused by mutation in the solute carrier family 5 (sodium/glucose cotransporter), member 2 gene (slc5a2, 182381.0001)

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0006)

•

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

•

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

•

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

•

en:caused by mutation in the homogentisate 1,2-dioxygenase gene (hgd, 607474.0001)

•

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

•

en:caused by mutation in aldo-keto reductase family 1, member c2 gene (akr1c2, 600450.0001)

•

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

•

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

•

en:caused by mutation in glycoprotein 1b, platelet, alpha polypeptide (gp1ba, 606672.0003)

•

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

•

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

•

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

•

en:caused by mutation in the acid beta-glucocerebrosidase gene (gba, 606643.0001)

•

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

•

en:caused by mutation in the actin, alpha-2, smooth muscle, aorta gene (acta2, 102620.0004)

•

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

•

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

•

en:caused by mutation in the alpha-tectorin gene (tecta, 602574.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by fusion of rad51b (602948) and hmgic (600698) genes

•

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 cathepsin k gene (ctsk, 601105.0001)

•

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

•

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

•

en:caused by mutations in the cysteine-rich protein with egf-like domain 1 gene (creld1, 607170.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atpase, class i, type 8b, member 1 gene (atp8b1, 602397.0006)

•

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

•

en:caused by mutation in the hect domain and rcc1-like domain 2 (herc2, 605837.0004)

•

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

•

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

•

en:caused by mutation in the dyskerin gene (dkc1, 300126.0001)

•

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

•

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

•

en:caused by mutation in the endothelin-3 gene (edn3, 131242.0001)

•

en:caused by mutation in the ercc6-like 2 gene (ercc6l2, 615667.0001)

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 1 gene (eif2b1, 606686.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fmr1 gene (fmr1, 309550.0001)

•

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

•

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

•

en:caused by mutation in the gtp-binding protein 3 gene (gtpbp3, 608536.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta-2 transforming growth factor gene (tgfb2, 190220.0001)

•

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

•

en:caused by mutation in the beta-3 laminin gene (lamb3, 150130.001)

•

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

•

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

•

en:caused by mutation in the beta subunit of the nonvoltage-gated sodium channel 1 gene (scnn1b, 600760.0003)

•

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

•

en:caused by mutation in the camp-dependent protein kinase, regulatory, type i, alpha gene (prkar1a, 188830.0001)

•

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

•

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

•

en:caused by mutation in the coagulation factor ix gene (f9, 300746.0001)

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0007)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the polyhomeotic-like 1 gene (phc1, 602978.0001)

•

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

•

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 pou domain, class 1, transcription factor 1 gene (pou1f1, 173110.0001)

•

en:caused by mutation in the procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2 gene (plod2, 601865.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphatidylinositol glycan, class m gene (pigm, 610273.0001)

•

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

•

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

•

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

•

en:caused by mutation in the lim domain-binding 3 gene (ldb3, 605906.0001)

•

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

•

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

•

en:caused by mutation in the malin gene (nhlrc1, 608072.0001)

•

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

•

en:caused by mutation in the methyl-cpg-binding protein-2 gene (mecp2, 300005.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0001)

•

en:caused by mutation in the myosin, heavy chain 14, nonmuscle gene (myh14, 608568.0001)

•

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

•

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

•

en:caused by mutation in the neurogenin 3 gene (neurog3, 604882.0001)

•

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

•

en:caused by mutation in the paired box gene 6 gene (pax6, 607108.0001)

•

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

•

en:caused by mutation in the s. cerevisiae homolog of the trna splicing endonuclease 2 gene (tsen2, 608753.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wt1 gene (wt1, 607102.0010)

•

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

•

en:caused by somatic deletion of 1 allele of the ribosomal protein s14 gene (rps14, 130620)

•

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

•

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

•

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

•

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

•

en:features other than acd/mpv are variably present

•

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

•

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

•

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

•

en:amyotrophic lateral sclerosis 19

•

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 v-raf murine sarcoma viral oncogene homolog b1 gene (braf, 164757.0012)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sh3 and cystein-rich domains 3 gene (stac3, 615521.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the speg complex locus gene (speg, 615950.0001)

•

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

•

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

•

en:caused by mutation in the stam-binding protein gene (stambp, 606247.0001)

•

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

•

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

•

en:caused by mutation in the transcription factor-4 gene (tcf4, 602272.0001)

•

en:caused by mutation in the transmembrane protein 67 gene (tmem67, 609884.0006)

•

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

•

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

•

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

•

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

•

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

•

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 atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0001)

•

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

•

en:caused by mutation in the atpase, ca++ transporting, slow-twitch, cardiac muscle-2 gene (atp2a2, 108740)

•

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

•

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

•

en:caused by mutation in the aurora kinase c gene (aurkc, 603495.0001)

•

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

•

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

•

en:caused by mutation in the anoctamin 3 gene (ano3, 610110.0001)

•

en:caused by mutation in the cathepsin f gene (ctsf, 603539.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the complex i, subunit nd2 gene (mtnd2, 516001.0001)

•

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

•

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

•

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

•

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

•

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

•

en:(prph2, 179605.0008)

•

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

•

en:caused by complex genomic rearrangement resulting in misexpression of the paired-like homeodomain transcription factor-1 gene (pitx1, 602149)

•

en:caused by disruption of the calmodulin-binding transcription activator 1 gene (camta1, 611501.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 135-kd centrosomal protein gene (cep135, 611423.0001)

•

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

•

en:caused by mutation in the adaptor-related protein complex 3, beta-1 subunit gene (ap3b1, 603401.0001)

•

en:caused by mutation in the adenylate kinase-2 gene (ak2, 103020.0001)

•

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

•

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

•

en:caused by mutation in the aldolase a, fructose-bisphosphatase gene (aldoa, 103850.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, beta-4 gene (gnb4, 610863.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the integrin-beta-4 gene (itgb4, 147557.0001)

•

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

•

en:caused by mutation in the inverted formin 2 gene (inf2, 610982.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the klotho gene (kl, 604824.0002)

•

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

•

en:caused by mutation in the glycerol-3-phosphate dehydrogenase 1 gene (gpd1, 138420.0001)

•

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

•

en:caused by mutation in the gene encoding peripheral myelin protein-22 (pmp22, 601097.0004)

•

en:caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 4 gene (eif2ak4, 609280.0001)

•

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

•

en:caused by mutation in the downstream of tyrosine kinase 7 gene (dok7, 610285.0001)

•

en:caused by mutation in the drosophila homolog of the mothers against decapentaplegic, 4 gene (smad4, 600993.0015)

•

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

•

en:caused by mutation in the dysferlin gene (dys, 603009.0001)

•

en:caused by mutation in the dimethylglycine dehydrogenase gene (dmgdh, 605849.0001)

•

en:caused by mutation in the elg9, c. elegans, homolog of, 1 gene (egln1, 606425.0004)

•

en:caused by mutation in the endothelin-1 gene (edn1, 131240.0002)

•

en:caused by mutation in the dyslexia susceptibility 1 candidate 1 gene (dyx1c1, 608706.0001)

•

en:caused by mutation in the f-box only protein 7 gene (fbxo7, 605648.0001)

•

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

•

en:caused by mutation in the fructose-1,6-bisphosphatase gene (fbp1, 611570.0001)

•

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

•

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

•

en:caused by mutation in the gamma-aminobutyric acid (gaba) a receptor, gamma-2 gene (gabrg2, 137164.0001)

•

en:caused by mutation in the fibroblast growth factor-10 gene (fgf10, 602115.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0001)

•

en:caused by mutation in the platelet-derived growth factor, beta polypeptide gene (pdgfb, 190040.0003)

•

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

•

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

•

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 potassium channel, inwardly rectifying, subfamily j, member 2 gene (kcnj2, 600681.0001)

•

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

•

en:caused by mutation in the protein c gene (proc, 612283.0001)

•

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

•

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

•

en:caused by mutation in the kn motif- and ankyrin repeat domain-containing protein 2 gene (kank2, 614610.0001)

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0017)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the low density lipoprotein receptor-related protein 5 gene (lrp5, 603506.0015)

•

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

•

en:caused by mutation in the monocarboxylate transporter 8 gene (mct8, 300095.0001)

•

en:caused by mutation in the magnesium-dependent protein phosphatase 2c gene (ppm2c, 605993.0001).

•

en:caused by mutation in the matrix gla protein gene (mgp, 154870.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the pyridoxamine 5-prime-phosphate oxidase gene (pnpo, 603287.0001)

•

en:translocation 21, 3.3%

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 4 gene (wnt4, 603490.0001)

•

en:caused by mutation in the xpc gene (xpc, 613208.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by trinucleotide repeat expansion (cag)n in the ataxin-3 gene (mjd, 607047.0001)

•

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

•

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

•

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

•

en:mosaic trisomy 21, 2.4%

•

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

•

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

•

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

•

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

•

en:caused by mutation in the isoprenoid synthase domain-containing protein gene (ispd, 614631.0001)

•

en:caused by mutation in the ubiquitin-protein ligase e3 component n-recognin 1 gene (ubr1, 605981.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (slc7a7, 603593.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the titin gene (ttn, 188840.0012)

•

en:caused by mutation in the transmembrane 43 gene (tmem43, 612048.0002)

•

en:caused by mutation in the transmembrane protein 165 gene (tmem165, 614726.0001)

•

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

•

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

•

en:caused by mutation in the trk-fused gene (tfg, 602498.0001)

•

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

•

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

•

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

•

en:caused by mutation in the beta actin gene (actb, 102630.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta-actin gene (actb, 102630.0001).

•

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

•

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 arginyl-trna synthetase 1 gene (rars, 107820.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coagulation factor xii gene (f12, 610619.0006)

•

en:caused by duplication of 72 kb of 5q23.2 including at a minimum the lamin b1 gene (lmnb1, 150340.0001)

•

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

•

en:a contiguous gene syndrome caused by deletion of chromosome 16q22 including the cbfb gene (121360)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the glutamate dehydrogenase gene (glud1, 138130.0001)

•

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

•

en:caused by mutations in the neurofibromin gene (nf1, 162200.0010)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the acetylglucosaminyltransferase-like protein (large, 603590.0001)

•

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

•

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

•

en:caused by mutation in the adaptor-related protein complex 4, mu-1 subunit gene (ap4m1, 602296.0001)

•

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

•

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

•

en:caused by mutation in the alpha-actin-1 gene (acta1, 102610.0001)

•

en:caused by mutation in the chromosome 12 open reading frame 65 gene (c12orf65, 613541.0001)

•

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

•

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 glyoxylate reductase/hydroxypyruvate reductase gene (grhpr, 604296.0001)

•

en:caused by mutation in the fukutin gene (fktn, 607440.0005)

•

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

•

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

•

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

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0001)

•

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

•

en:caused by mutation in the gene encoding desmoglein-1 (dsg1, 125670.0001)

•

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

•

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

•

en:caused by mutation in the gonadotropic-releasing hormone 1 gene (gnrh1, 152760.0001)

•

en:caused by mutation in the forkhead transcription factor foxl2 gene (foxl2, 605597.0001)

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae cell division cycle 6 gene (cdc6, 602627.0001)

•

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

•

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 drosophila notch 2 gene (notch2, 600275.0003)

•

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

•

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

•

en:caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene (stra6, 610745.0007)

•

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

•

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

•

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

•

en:caused by mutation in the dna helicase, recq-like, type 4 gene (recql4, 603780.0012)

•

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

•

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, 120140.0018)

•

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

•

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

•

en:caused by mutation in the cytochrome p450, subfamily xib, polypeptide 1 gene (cyp11b1, 610613.0001)

•

en:caused by mutation in the dehydrogenase e1 and transketolase domains-containing protein 1 (dhtkd1, 614984.0004)

•

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

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0029)

•

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

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0020)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by a trinucleotide repeat expansion (ctg)n in the ataxin 8 opposite strand gene (atxn8os, 603680.0001)

•

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

•

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

•

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

•

en:caused by mutation in the n-acylsphingosine amidohydrolase 1 gene (asah1, 613468.0006)

•

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

•

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

•

en:caused by mutation in the neurofibromin gene (nf1, 613113.0033)

•

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

•

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

•

en:caused by mutation in the never in mitosis gene a-related kinase 8 gene (nek8, 609799.0002)

•

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

•

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

•

en:caused by mutation in the myeloproliferative leukemia virus oncogene (mpl, 159530.0009)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the potassium channel, voltage-gated, shaker-related subfamily, member 5 gene (kcna5, 176267.0001)

•

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 presenilin 2 gene (psen2, 600759.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the host cell factor c1 gene (hcfc1, 300019.0001)

•

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

•

en:caused by mutation in the interferon-induced helicase c domain-containing protein 1 gene (ifih1, 606951.0001)

•

en:caused by mutation in the intestinal sodium/glucose transporter gene (slc5a1, 182380.0001)

•

en:caused by mutation in the intrinsic factor-vitamin b12 receptor gene (cubn, 602997.0001)

•

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

•

en:caused by mutation in the keratin 6a gene (krt6a, 148041.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 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 2 gene (lrp2, 600073.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial phenylalanyl-trna synthetase 2 gene (fars2, 611592.0001)

•

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

•

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

•

en:caused by mutation in the regulatory factor x, 6 gene (rfx6, 612659.0001)

•

en:caused by mutation in the homolog of the mouse seizure threshold 2 gene (szt2, 615463.0001)

•

en:caused by mutation in the x-prolyl aminopeptidase 3 gene (xpnpep3, 613553.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein 11 gene (wdr11, 606417.0001)

•

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

•

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

•

en:caused by mutation in the wingless-type mmtv integration site family, member 7a gene (wnt7a, 601570.0002)

•

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

•

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

•

en:caused by mutation in the zinc finger mynd domain-containing protein 11 gene (zmynd11, 608668.0001)

•

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

•

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 6-mb duplication of 15q11-q13

•

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

•

en:susceptibility conferred by mutation in the major histocompatibility complex, class i, b gene (hla-b, 142830.0001)

•

en:susceptibility conferred by mutation in the transmembrane 4 l6 family, member 20 gene (tm4sf20, 615404.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605921.0008)

•

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

•

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

•

en:caused by mutation in the set-binding factor 1 gene (sbf1, 603560.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila hairy/enhancer of split 7 gene (hes7, 608059.0001)

•

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

•

en:caused by mutation in the asparagine synthetase gene (asns, 108370.0001)

•

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

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, accessory protein-2 gene (atp6ap2, 300556.0002)

•

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

•

en:caused by mutation in the bcs1, s. cerevisiae, homolog-like gene (bcs1l, 603647.0001)

•

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

•

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

•

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

•

en:caused by mutation in the beta cardiac myosin heavy chain gene (myh7, 160760.0028)

•

en:caused by mutation in the ankyrin 1 gene (ank1, 182900.0001)

•

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

•

en:caused by mutation in the bridging integrator 1 gene (bin1, 601248.0001)

•

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 cadherin 3 gene (cdh3, 114021.0001)

•

en:caused by mutation in the calcium/calmodulin-dependent serine protein kinase gene (cask, 300172.0001)

•

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

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 140 gene (ift140, 614620.0001)

•

en:caused by mutation in the chordin-like-1 gene (chrdl1, 300350.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the lim/homeodomain protein lhx3 gene (lhx3, 600577.0001)

•

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

•

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

•

en:caused by mutations in the red cell pyruvate kinase gene (pkrl, 609712.0001).

•

en:caused by mutations in the udp-galaltose-4-epimerase gene, 'mild' form (gale, 606953.0001).

•

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 cyclin-dependent kinase inhibitor 2a (cdkn2a, 600160.0003)

•

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

•

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

•

en:caused by mutation in the 300-kd e1a-binding protein gene (ep300, 602700.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha-n-acetylgalactosaminidase gene (naga, 104170.0001)

•

en:caused by mutation in the chloride channel 5 gene (clcn5, 300008.0007)

•

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

•

en:caused by mutation in the chromosome 5 open reading frame 42 gene (c5orf42, 614571.0001)

•

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

•

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

•

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

•

en:caused by mutation in the fibulin 5 gene (fbln5, 604580.0001)

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0007)

•

en:caused by mutation in the forkhead box f1 gene (foxf1, 601089.0001)

•

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 fyve, rhogef, and ph domain-containing protein-4 gene (fgd4, 611104.0001)

•

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

•

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

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 121050.0001)

•

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

•

en:caused by mutation in the glutamate-ammonia ligase gene (glul, 138290.0001)

•

en:caused by mutation in the glutaredoxin 5 gene (glrx5, 609588.0001)

•

en:caused by mutation in the growth factor-independent 1b gene (gfi1b, 604383.0001)

•

en:caused by mutation in the histone deacetylase 6 gene (hdac6, 300272.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor 5 gene (fgf5, 165190.0001)

•

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

•

en:caused by mutation in the fancd2/fanci-associated nuclease 1 gene (fan1, 613534.0001)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 8 gene (ccdc8, 614145.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (dync1h1, 600112.0001)

•

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

•

en:caused by mutation in the dystonin gene (dst, 113810.0002)

•

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

•

en:caused by mutation in the enamelin gene (enam, 606585.0003)

•

en:caused by mutation in the endoplasmic reticulum lipid raft-associated protein 2 gene (erlin2, 611605.0001)

•

en:caused by mutation in the endothelin-converting enzyme-like 1 gene (ecel1, 605896.0001)

•

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

•

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

•

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

•

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 2 (facilitated glucose transporter), member 1 gene (slc2a1, 138140.0019)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the spermine synthase gene (sms, 300105.0001)

•

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

•

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

•

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

•

en:caused by mutation in the proliferating cell nuclear antigen gene (pcna, 176740.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the prickle-like 1 gene (prickle1, 608500.0001)

•

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

•

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

•

en:susceptibility conferred by mutation in the dynactin 1 gene (dctn1, 601143.0002)

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tia1 cytotoxic granule-associated rna-binding protein gene (tia1, 603518.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ubiquinol-cytochrome c reductase-protein gene (uqcrb, 191330.0001).

•

en:caused by mutation in the tumor protein p63 gene (tp63, 603273.0007)

•

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

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 3 gene (trpv3, 607066.0001)

•

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

•

en:caused by mutation in the pr-domain containing protein-5 gene (prdm5, 614161.0001)

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8232011 • caches: c1=6 c2=1002 c3=1

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