Diko : en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0016)

(id=8232819)

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0016)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C1969882

Associations d'idées

[F]

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1000

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

•

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

•

en:caused by mutation in the interleukin-17 receptor d gene (il17rd, 606807.0001)

•

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

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 6 gene (abcb6, 605452.0008)

•

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

•

en:caused by mutation in the acid beta-glucosidase gene (gba, 606463.0004)

•

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

•

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

•

en:caused by fusion of the ret protooncogene (164761) with tif1g (605769), d10s170 (601985), ele1 (601984), and prkar1a (188830)

•

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

•

en:caused by partial duplication of mtdna

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 alpha subcomplex, 12 gene (ndufa12, 614530.0001)

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0045)

•

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

•

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

•

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

•

en:susceptibility conferred by duplication of the homolog of the mouse t brachyury gene (t, 601397)

•

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

•

en:caused by mutation in the thyroid transcription factor 1 gene (titf1, 600635.0005)

•

en:caused by mutation in the solute carrier family 39 (zinc transporter), member 13 gene (slc39a13, 608735.0001)

•

en:caused by mutation in the sodium channel, voltage-gated, type v, alpha subunit gene (scn5a, 600163.0004)

•

en:caused by mutation in the renin gene (ren, 179820.0004)

•

en:caused by mutation in the protein o-fucosyltransferase-1 gene (pofut1, 607491.0001)

•

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

•

en:caused by mutation in the proline-rich transmembrane protein 2 gene (prrt2, 614386.0001).

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0027)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dmx-like 2 gene (dmxl2, 612186.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the kiaa0415 gene (kiaa0415, 613653.0001)

•

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

•

en:caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (dync1h1, 600112.0001)

•

en:caused by mutation in the cardiac troponin t2 gene (tnnt2, 191045.0011)

•

en:caused by mutation in the beta-1-galactosidase gene (glb, 230500.0003)

•

en:caused by mutation in the bcs1, s. cerevisiae, homolog-like gene (bcs1l, 603647.0001)

•

en:caused by mutation in the 3-prime repair exonuclease-1 gene (trex1, 606609.0005)

•

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

•

en:caused by mutations in the recombinase activating gene 2 (rag2, 179616.0001)

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial citrate transporter), member 1 gene (slc25a1, 190315.0001)

•

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

•

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

•

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

•

en:caused by mutation in the hps1 gene (hps1, 203300)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the nf-kappa-b essential modulator gene (ikbkg, 300248.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ras-associated protein-28 gene (rab28, 612994.0001)

•

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

•

en:caused by mutation in the mitochondrial trna (lysine) gene (mttk, 590060.0001)

•

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

•

en:caused by mutation in the fibulin 5 gene (fbln5, 604580.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0001)

•

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

•

en:caused by mutation in the eukaryotic translation elongation factor-2 gene (eef2, 130610.0001)

•

en:caused by mutation in the enamelin gene (enam, 606585.0003)

•

en:caused by mutation in the atp-binding cassette, subfamily g, member 8 gene (abcg8, 605460.0001)

•

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

•

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

•

en:caused by mutation in the activation-induced cytidine deaminase gene (aicda, 605257.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 lamin a/c gene (lmna, 150330.0017)

•

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

•

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

•

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

•

en:caused by mutation in the fibronectin 1 gene (fn1, 135600.0001)

•

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

•

en:caused by mutation in the cereblon gene (crbn, 609262.0001)

•

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

•

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

•

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

•

en:caused by mutation in the aminoacylase-1 gene (acy1, 104620.0001).

•

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 pkhd1 gene (606702.0001).

•

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

•

en:caused by mutation in the transglutaminase-5 gene (tgm5, 603805.0001)

•

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

•

en:caused by mutation in the solute carrier family 33 (acetyl-coa transporter), member 1 gene (slc33a1, 603690.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of s. cerevisiae atp-dependent dna helicase hfm1 gene (hfm1, 615684.0001)

•

en:caused by mutation in the gata-binding protein-3 gene (gata3, 131320.0001)

•

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

•

en:caused by mutation in the disintegrin-like and metalloproteinase with thrombospondin type 1 motif 18 gene (adamts18, 607512.0002)

•

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

•

en:caused by mutation in the branched chain keto acid dehydrogenase e1, alpha polypeptide gene (bckdha, 608348.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the voltage-gated sodium channel type i, alpha polypeptide gene (scn1a, 182389.0001)

•

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

•

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

•

en:caused by mutation in the pterin-4-alpha-carbinolamine dehydratase 1 gene (pcbd1, 126090.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glyoxylate reductase/hydroxypyruvate reductase gene (grhpr, 604296.0001)

•

en:caused by mutation in the gata-binding protein 1 gene (gata1, 305371.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in alkaline phosphatase gene (alpl, 171760.0003)

•

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

•

en:contiguous gene deletion syndrome caused by deletion (3.4 kb) of chromosome xq28

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mesenchyme homeobox 1 gene (meox1, 600147.0001)

•

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

•

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

•

en:caused by mutation in the kaptin gene (kptn, 615620.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the keratin 6b gene (krt6b, 148042.0001)

•

en:caused by microdeletions of 11p13

•

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 guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1 gene (gnas1, 139320.0008)

•

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

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin 81 gene (krt81, 602153.0001)

•

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

•

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

•

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 gastric intrinsic factor gene (gif, 609342.0001).

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cytochrome c oxidase subunit 15 gene (cox15, 603646)

•

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

•

en:caused by mutations in the low density lipoprotein receptor-related protein-5 gene (lrp5, 603506.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein kinase c, gamma polypeptide gene (prkcg, 176980.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (pstpip1, 606347.0001)

•

en:caused by mutation in the p21-activated kinase 3 gene (pak3, 300142.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the lysosome associated membrane protein-2 gene (lamp2, 309060.0001)

•

en:caused by mutation in the homolog of mouse peripherin 2 (prph2, 179605.0009)

•

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

•

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

•

en:caused by mutation in the embryonic skeletal muscle myosin heavy chain 3 gene (myh3, 160720.0001)

•

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

•

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

•

en:caused by mutation in the deoxyribonuclease i-like 3 gene (dnase1l3, 602244.0001)

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the methyl-cpg binding protein-2 gene (mecp2, 300005.0011)

•

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

•

en:contiguous gene syndrome caused by deletion of chromosome xq21 including at least the rab escort protein 1 gene (chm, 300390) and the pou domain, class 3, transcription factor 4 gene (pou3f4, 300039)

•

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

•

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

•

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

•

en:caused by mutation in the vacuolar protein sorting 13a gene (vps13a, 605978.0001)

•

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 ix, voltage-gated sodium channel, alpha subunit gene (scn9a, 603415.0008)

•

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

•

en:caused by mutation in the tbc1 domain family, member 7 gene (tbc1d7, 612655.0001)

•

en:caused by mutation in the tbc1 domain family, member 20 gene (tbc1d20, 611663.0001)

•

en:caused by mutation in the synaptojanin-1 gene (synj1, 604297.0001)

•

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

•

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

•

en:caused by mutation in the sry-box 18 gene (sox18, 601618.0001)

•

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

•

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

•

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

•

en:caused by mutation in the serine protease inhibitor, kazal type, 5 gene (spink5, 605010.0001)

•

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

•

en:caused by mutation in the sal-like 1 gene (sall1, 602218.0001)

•

en:caused by mutation in the rna-specific adenosine deaminase gene (adar, 146920.0007)

•

en:caused by mutation in the rna-binding motif protein 28 gene (rbm28, 612074.0001)

•

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

•

en:caused by mutation in the ranbp-type and c3hc4-type zinc finger-containing 1 gene (rbck1, 610924.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ofd1 gene (ofd1, 300170.0007).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nicastrin gene (ncstn, 605254.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the molybdenum cofactor synthesis gene 2 (mocs2, 603708.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial ribosomal protein s22 gene (mrps22, 605810.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the keratin 85 gene (krt85, 602767.0001)

•

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

•

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

•

en:caused by mutation in the intestinal cell kinase gene (ick, 612325.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the immunoglobulin mu binding protein 2 gene (ighmbp2, 600502.0001)

•

en:caused by mutation in the immunoglobulin-like domain-containing receptor 1 gene (ildr1, 609739.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gata-binding protein-2 gene (gata2, 137295.0009)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the eukaryotic translation initiation factor 2b, subunit 3 gene (eif2b3, 606273.0001)

•

en:caused by mutation in the enolase 3 gene (eno3, 131370.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the desmoglein 4 gene (dsg4, 607892.0001)

•

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

•

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

•

en:caused by mutation in the cyld gene (605018.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 15 open reading frame 41 gene (c15orf41, 615626.0001)

•

en:caused by mutation in the chromosome 12 open reading frame 57 gene (c12orf57, 615140.0001)

•

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

•

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

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the bromodomain-and wd repeat domain-containing protein 3 gene (brwd3, 300553.0001)

•

en:caused by mutation in the brca2 gene (brca2, 600185.0027)

•

en:caused by mutation in the blk nonreceptor tyrosine kinase gene (blk, 191305.0001)

•

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 beta-actin gene (actb, 102630.0001).

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily c, member 8 gene (abcc8, 600509.0001)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 4 gene (abcb4, 171060.0001)

•

en:caused by mutation in the ankyrin 1 gene (ank1, 182900.0001)

•

en:caused by mutation in the angiotensinogen gene (agt, 106150.0003)

•

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 alpha-aminoadipic semialdehyde synthase gene (aass, 605113.0001)

•

en:caused by mutation in the alpha-1s subunit of l-type voltage-dependent calcium channel gene (cacna1s, 114208.0001).

•

en:caused by mutation in the alpha-1a calcium channel subunit gene (cacna1a, 601011.0002)

•

en:caused by mutation in the adp ribosylation factor-like 2-binding protein gene (arl2bp, 615407.0001)

•

en:caused by mutation in the 4-aminobutyrate aminotransferase gene (abat, 137150.0001)

•

en:caused by mutation in serine protease 56 gene (prss56, 613858.0001)

•

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

•

en:caused by mutations in the wilms tumor 1 gene (wt1, 607102.0018).

•

en:caused by mutations in the vitamin d receptor gene (vdr, 601769.0001)

•

en:caused by mutations in the tumor protein p63 gene (tp63, 603273.0009)

•

en:caused by mutations in the tumor necrosis factor receptor superfamily, member 11a (tnfrsf11a, 603499.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the ceruloplasmin gene (cp, 117700.0001).

•

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

•

en:caused by a 1.75 mb deletion at 15q24

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the alpha-2-macroglobulin gene (a2m, 103950.0005)

•

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

•

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

•

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

•

en:contiguous gene syndrome involving mutation of genes on 7q11.2

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0003)

•

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 v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 gene (erbb4, 600543.0001)

•

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

•

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 ubiquitin-specific protease 9, x chromosome gene (usp9x, 300072.0001)

•

en:caused by mutation in the ubiquinol-cytochrome c reductase-protein gene (uqcrb, 191330.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier) member 4 gene (slc25a4, 103220.0001)

•

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

•

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

•

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

•

en:caused by mutation in the regulatory factor x-associated protein gene (rfxap, 601861.0001)

•

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

•

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

•

en:caused by mutation in the ras-associated protein rab39b (300774.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the peroxisome biogenesis factor-2 gene (pex2, 170993.0002)

•

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

•

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

•

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

•

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

•

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 nonerythrocytic beta-spectrin 2 gene (sptbn2, 604985.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) flavoprotein 1 gene (ndufv1, 161015.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mmab gene (mmab, 607568.0001)

•

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

•

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

•

en:caused by mutation in the mastermind-like domain containing 1 gene (mamld1, 300120.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the interleukin-1 receptor antagonist gene (il1rn, 147679.0002)

•

en:caused by mutation in the insulin receptor gene (insr, 147670.0002)

•

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

•

en:caused by mutation in the immunoglobulin kappa constant region gene (igkc, 147200.0004)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae minichromosome maintenance 4 gene (mcm4, 602638.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport 80 gene (ift80, 611177.0001)

•

en:caused by mutation in the homolog of drosophila sprouty-4 gene (spry4, 607984.0001)

•

en:caused by mutation in the homolog of chlamydomonas poc1 centriolar protein-b gene (poc1b, 614784.0001)

•

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

•

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

•

en:caused by mutation in the histidyl-trna synthetase gene (hars, 142810.0001)

•

en:caused by mutation in the hepatic lipase gene (lipc, 151670.0001)

•

en:caused by mutation in the heparanase-2 gene (hpse2, 613469.0001)

•

en:caused by mutation in the g protein signaling modulator 2 gene (gpsm2, 609245.0001)

•

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

•

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

•

en:caused by mutation in the glycosyltransferase-like domain-containing protein 2 gene (gtdc2, 614828.0001)

•

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

•

en:caused by mutation in the glucose-6-phosphatase, catalytic subunit 3 gene (g6pc3, 611045.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the forkhead box c2 gene (foxc2, 602402.0007)

•

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

•

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

•

en:caused by mutation in the f-box only protein 31 gene (fbxo31, 609102.0001)

•

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

•

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

•

en:caused by mutation in the excision-repair cross-complementing group 3 gene (ercc3, 133510.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the dedicator of cytokinesis 8 gene (dock8, 611432.0001)

•

en:caused by mutation in the dead box polypeptide 59 gene (ddx59, 615464.0001)

•

en:caused by mutation in the cytotoxic t lymphocyte-associated 4 gene (ctla4, 123890.0003)

•

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

•

en:caused by mutation in the cytochrome c oxidase iii gene (mtco3, 516050.0001)

•

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

•

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

•

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

•

en:caused by mutation in the connexin 26 gene (gjb2, 121011.0020)

•

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

•

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

•

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

•

en:caused by mutation in the collagen type vii, alpha-1 gene (col7a1, 120120.0009).

•

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

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0017)

•

en:caused by mutation in the collagen, type iv, alpha-3 gene (col4a3, 120070.0009)

•

en:caused by mutation in the coiled-coil domain-containing protein 65 (ccdc65, 611088.0001)

•

en:caused by mutation in the coagulation factor 2 gene (f2, 176930.0009)

•

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

•

en:caused by mutation in the chloride intracellular channel-5 gene (clic5, 607293.0001)

•

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

•

en:caused by mutation in the carbohydrate sulfotransferase 3 gene (chst3, 603799.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily d, member 4 gene (abcd4, 603214.0001)

•

en:caused by mutation in the aristaless-like homeobox 3 gene (alx3, 606014.0001)

•

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

•

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

•

en:caused by mutation in the alpha subunit of succinate-coenzyme a ligase (suclg1, 611224.0001)

•

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

•

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

•

en:caused by mutation in the alpha-b-crystallin gene (cryab, 123590.0001)

•

en:caused by mutation in the alpha-2 subunit of collagen type ix gene (col9a2, 120260.0006)

•

en:caused by mutation in the adult folate receptor 1 gene (folr1, 136430.0001)

•

en:caused by mutation in the aarf domain-containing kinase 3 gene (adck3, 606980.0001)

•

en:caused by mutation in the 68-kd transforming growth factor-beta-induced gene (tgfbi, 601692.0003)

•

en:caused by mutation in the 45-kd receptor-associated protein of the synapse (rapsyn, 601592.0001)

•

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

•

en:caused by mutation in subunit a of the neuronal voltage-gated sodium channel gene (scn1a, 182389.0012)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the cathepsin k gene (ctsk, 601105.0001)

•

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

•

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

•

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

•

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

•

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

•

en:a contiguous gene syndrome caused by deletion of the friend leukemia virus integration 1 gene (fli1, 193067) and perhaps other genes in 11q23

•

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

•

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

•

en:features other than acd/mpv are variably present

•

en:contiguous gene syndrome caused by deletion (580kb-22.5mb) of 3q13.31

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the voltage-gated, type x, alpha subunit gene (scn10a, 604427.0001)

•

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

•

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

•

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

•

en:caused by mutation in the tripartite motif-containing protein 32 gene (trim32, 602290.0002)

•

en:caused by mutation in the triadin gene (trdn, 603283.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene (slc25a22, 609302.0001)

•

en:caused by mutation in the solute carrier family 19 (thiamine transporter), member 2 gene (slc19a2, 603941.0001)

•

en:caused by mutation in the soluble guanylate cyclase 1, alpha 3 gene (gucy1a3, 139396.0001)

•

en:caused by mutation in the set-binding protein-1 gene (setbp1, 611060.0001)

•

en:caused by mutation in the semaphorin 4a gene (sema4a, 607292.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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 proteasome maturation protein gene (pomp, 613386.0001)

•

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

•

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

•

en:caused by mutation in the prickle-like 2 gene (prickle2, 608501.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the poliovirus receptor-like 1 gene (pvrl1, 600644.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nuclear factor kappa-beta, subunit 2 gene (nfkb2, 164012.0001)

•

en:caused by mutation in the nlr family, pyrin-domain containing 3 gene (nlrp3, 606416.0004)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the n-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (gnptab, 607840.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial-encoded atp synthase 6 gene (mtatp6, 516060.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the limbin gene (evc2, 607261.0009)

•

en:caused by mutation in the leucine-rich repeat-containing protein 50 gene (lrrc50, 613190.0001)

•

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

•

en:caused by mutation in the latent transforming growth factor beta binding protein 2 gene (ltbp2, 602091.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the insulin-like growth factor-binding protein-7 gene (igfbp7, 602867.0001)

•

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

•

en:caused by mutation in the hypoxanthine phosphoribosyltransferase gene (hprt1, 308000.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the glycogenin-1 gene (gyg1, 603942.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the forkhead box g1 gene (foxg1, 164874.0001)

•

en:caused by mutation in the forkhead, drosophila, homolog-like 7 gene (foxc1, 601090.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the euchromatic histone methyltransferase-1 gene (ehmt1, 607001.0001)

•

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

•

en:caused by mutation in the ecto-5-prime nucleotidase gene (nt5e, 129190.0001)

•

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

•

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

•

en:caused by mutation in the dynactin-1 gene (dctn1, 601143.0001)

•

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

•

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

•

en:caused by mutation in the discoidin domain receptor family, member 2 gene (ddr2, 191311.0001)

•

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

•

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

•

en:caused by mutation in the delta-4-3-oxosteroid 5-beta-reductase gene (akr1d1, 604741.0001)

•

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

•

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

•

en:caused by mutation in the cytochrome p450 subfamily xib, polypeptide 2 gene (cyp11b2, 124080.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the connexin-32 gene (gjb1, 304040.0001)

•

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

•

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

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0005)

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0002)

•

en:caused by mutation in the coiled-coil domain-containing protein 78 gene (ccdc78, 614666.0001)

•

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

•

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

•

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

•

en:caused by mutation in the caspase recruitment domain-containing protein 11 gene (card11, 607210.0001)

•

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

•

en:caused by mutation in the beta-ureidopropionase gene (upb1, 606673.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the asparagine synthetase gene (asns, 108370.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the adenine phosphoribosyltransferase gene (aprt, 102600.0001)

•

en:caused by mutation in the adaptor-related protein complex 4, epsilon-1 subunit gene (ap4e1, 607244.0001)

•

en:caused by mutation in the adamts-like 4 gene (adamtsl4, 610113.0001)

•

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

•

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

•

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

•

en:caused by mutations in the red cell pyruvate kinase gene (pkrl, 609712.0001).

•

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

•

en:caused by mutations in the glycine n-methyltransferase gene (gnmt, 606628.0001)

•

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

•

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

•

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

•

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

•

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

•

en:a mutation in the homeobox d13 gene (hoxd13, 142989.0012) has been identified in 1 patient.

•

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

•

en:remainder of cases secondary to maternal disomy

•

en:mosaic trisomy 21, 2.4%

•

en:linked to locus at 17q12-q21.

•

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

•

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

•

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

•

en:contiguous gene deletion of 12 mb encompassing 47 genes on 1p32-p31

•

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

•

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

•

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

•

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

•

en:caused by mutation in the wilms tumor 1 gene (wt1, 607102.0003).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 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 transmembrane protein 216 gene (tmem216, 613277.0001)

•

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 threonyl-trna synthetase 2 gene (tars2, 612805.0001)

•

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

•

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

•

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

•

en:caused by mutation in the stromal interaction molecule 1 gene (stim1, 605921.0008)

•

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

•

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

•

en:caused by mutation in the spermine synthase gene (sms, 300105.0001)

•

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

•

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 24 (sodium/potassium/calcium exchanger), member 5 gene (slc24a5, 609802.0001)

•

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 solute carrier family 12 (sodium/chloride transporter), member 6 gene (slc12a6, 604878.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ribonuclease h2, subunit a gene (rnaseh2a, 606034.0001)

•

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

•

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

•

en:caused by mutation in the ras-associated protein rab23 gene (rab23, 606144.0001)

•

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

•

en:caused by mutation in the pulmonary-associated surfactant protein a2 gene (sftpa2, 178642.0001)

•

en:caused by mutation in the protoporphyrinogen oxidase gene (ppox, 600923.0001)

•

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

•

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

•

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

•

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 platelet glycoprotein ib, beta polypeptide, gene (gp1bb, 138720.0001)

•

en:caused by mutation in the phosphoribosylpyrophosphate synthetase 1 gene (prps1, 311850.0011)

•

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

•

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

•

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

•

en:caused by mutation in the phosphatidylinositol glycan, class v gene (pigv, 610274.0001)

•

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

•

en:caused by mutation in the peripheral myelin protein-22 gene (pmp22, 601097.0006)

•

en:caused by mutation in the nuclear receptor subfamily 2, group e, member 3 gene (nr2e3, 604485.0006)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh-ubiquinone oxidoreductase 1 beta subcomplex 9 gene (ndufb9, 601445.0001)

•

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

•

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

•

en:caused by mutation in the myosin heavy chain 11 gene (myh11, 160745.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-8 gene (myh8, 160741.0001)

•

en:caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (myh7, 160760.0022)

•

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

•

en:caused by mutation in the mitochondrial transfer rna histidine gene (mtth, 590040.0003)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the lamin a/c gene (lmna, 150330.0045)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the isoleucyl-trna synthetase 2 gene (iars2, 612801.0001)

•

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 interleukin 10 receptor, alpha gene (il10ra, 146933.0001)

•

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

•

en:caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (itpr1, 147265.0003)

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae sec23 gene b (sec23b, 610512.0001)

•

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

•

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 rat nexilin gene (nexn, 613121.0004)

•

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

•

en:caused by mutation in the homolog of the mouse noggin gene (nog, 602991.0003)

•

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 chlamydomonas intraflagellar transport-43 gene (itf43, 614068.0001)

•

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

•

en:caused by mutation in the histone deacetylase 6 gene (hdac6, 300272.0001)

•

en:caused by mutation in the hexokinase 1 gene (hk1, 142600.0001)

•

en:caused by mutation in the hepatocyte nuclear factor 4-alpha gene (hnf4a, 600281.0008)

•

en:caused by mutation in the guanylate cyclase 2d, membrane, retina-specific gene (gucy2d, 600179.0001)

•

en:caused by mutation in the guanidinoacetate methyltransferase gene (gamt, 601240.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0007)

•

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

•

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

•

en:caused by mutation in the forkhead box p3 gene (foxp3, 300292.0001)

•

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

•

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

•

en:caused by mutation in the fibrillin-1 gene (fbn1, 134797.0040)

•

en:caused by mutation in the fez family zinc finger protein-1 gene (fezf1, 613301.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0002)

•

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

•

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

•

en:caused by mutation in the dystonin gene (dst, 113810.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coronin 1a gene (coro1a, 605000.0001)

•

en:caused by mutation in the component x gene of the pyruvate dehydrogenase complex (pdhx, 608769.0001)

•

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

•

en:caused by mutation in the colony-stimulating factor 1 receptor gene (csf1r, 164770.0001)

•

en:caused by mutation in the collagen vi, alpha-3 polypeptide gene (col6a3, 120250.0001)

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0007)

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0005)

•

en:caused by mutation in the collagen, type iv, alpha-6 gene (col4a6, 303631.0002)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 11 gene (ccdc11, 614759.0001)

•

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

•

en:caused by mutation in the chromosome 8 open reading frame 37 gene (c8orf37, 614477.0001)

•

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

•

en:caused by mutation in the cdgsh iron sulfur domain protein 2 gene (cisd2, 611507.0001)

•

en:caused by mutation in the cd3 antigen, epsilon subunit gene (cd3e, 186830.0003)

•

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

•

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

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0001)

•

en:caused by mutation in the camp-specific phosphodiesterase 4d gene (pde4d, 600129.0001)

•

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

•

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

•

en:caused by mutation in the axonemal dynein assembly factor 3 gene (dnaaf3, 614566.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the adaptor-related protein complex 4, beta-1 subunit gene (ap4b1, 607245.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the n(5,10)-methylenetetrahydrofolate reductase gene (mthfr, 607093.0001)

•

en:caused by mutations in the hexosaminidase a, alpha polypeptide gene (hexa, 272800.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by deletion of 539.77kb (grch37 chr8 77226464-77766239) on chromosome 8q21.11

•

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

•

en:a contiguous gene syndrome caused by deletion of the stereocilin gene (strc, 606440) and the sperm-associated cation channel-2 gene (catsper2, 607249) gene

•

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

•

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

•

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

•

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

•

en:rare cases secondary to chromosome translocation

•

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

•

en:contiguous gene syndrome caused by deletion of 7.1 to 8.7mb of 16p12.2-p11.2

•

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

•

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

•

en:caused by mutation or trinucleotide repeat expansion (gaa)n in the frataxin gene (fxn, 606829.0001)

•

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

•

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

•

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

•

en:caused by mutation in the wd repeat-containing protein-19 gene (wdr19, 608151.0004)

•

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

•

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

•

en:caused by mutation in the ubiquitin carboxyl-terminal esterase l1 gene (uchl1, 191342.0003)

•

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

•

en:caused by mutation in the type iv collagen alpha-2 gene (col4a2, 120090.0001)

•

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

•

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

•

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

•

en:caused by mutation in the transmembrane channel-like protein 1 gene (tmc1, 606706.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0006)

•

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

•

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

•

en:caused by mutation in the transforming growth factor, beta-induced, 68kd gene (tgfbi, 601692.0005)

•

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

•

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

•

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

•

en:caused by mutation in the swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene (smarca2, 600014.0001)

•

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

•

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

•

en:caused by mutation in the sperm antigen with calponin homology and coiled-coil domains 1-like gene (specc1l, 614140.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the rna, u4, small nuclear, at-ac form gene (rnu4atac, 601428.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the protein-o-mannose kinase gene (pomk, 615247.0001)

•

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

•

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

•

en:caused by mutation in the prion protein gene (prnp, 176640.0010)

•

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

•

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

•

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

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8232819 • caches: c1=6 c2=1002 c3=1

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