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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3151125

Associations d'idées

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1000

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1 gene (chrna1, 100690.0001)

•

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

•

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

•

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

•

en:caused by mutation in the melanophilin gene (mlph, 606526.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the claudin-1 gene (cldn1, 603718.0001)

•

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

•

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

•

en:caused by mutation in the voltage-gated potassium channel, kqt-like subfamily, member 4 gene (kcnq4, 603537.0001)

•

en:caused by mutation in the tbc1 domain family, member 24 gene (tbc1d24, 613577.0001)

•

en:caused by mutation in the hps3 gene (hps3, 606118)

•

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 homeobox d10 gene (hoxd10, 142984.0001)

•

en:caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (slc34a2, 604217.0001)

•

en:caused by mutation in the voltage-gated sodium channel 9 alpha-subunit gene (scn9a, 603415.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the estrogen receptor-1 gene (esr1, 133430.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transcription factor sp7 gene gene (sp7, 606633.0001)

•

en:caused by mutation in the succinate-coa ligase adp-forming beta-subunit gene (sucla2, 603921.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the anthrax toxin receptor 2 gene (antxr2, 608041.0001)

•

en:caused by mutation in the aminoacyl-trna synthetase complex-interacting multifunctional protein 1 gene (aimp1, 603605.0001)

•

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

•

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

•

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

•

en:caused by mutation in the polycystin 1 gene (pkd1, 601313.0001)

•

en:caused by mutation in the 3-prime repair exonuclease 1 gene (trex1, 606609.0001)

•

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

•

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

•

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

•

en:caused by mutation in the spectrin repeat-containing nuclear envelope protein 4 gene (syne4, 615535.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the af4/fmr2 family, member 2 gene (aff2, 300806.0001)

•

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

•

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

•

en:caused by mutation in the myosin, heavy chain 9, nonmuscle gene (myh9, 160775.0008)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the budding uninhibited by benzimidazoles 1 beta gene (bub1b, 602860.0003)

•

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 interferon regulatory factor 6 gene (irf6, 607199.0003)

•

en:cause by mutation in the homolog of the s. cerevisiae alg2 gene (alg2, 607905.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gap junction protein, beta-2, 26kd gene (gjb2, 121011.0015)

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the tumor protein p53 gene (tp53, 191170.0042)

•

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

•

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

•

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

•

en:caused by mutation in the set-binding protein 1 gene (setbp1, 611060.0006)

•

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

•

en:caused by mutation in the aladin gene (aaas, 605378.0001)

•

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 e. coli elac 2 gene (elac2, 605367.0006)

•

en:caused by mutation in the h19 gene (h19, 103290.0002)

•

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

•

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

•

en:caused by mutation in the chloride channel 5 gene (clcn5, 300008.0005)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nuclear receptor subfamily 2, group f, member 1 gene (nr2f1, 132890.0001)

•

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

•

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

•

en:caused by mutation in the transmembrane protein 142a gene (tmem142a, 610277.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 6 gene (ndufs6, 603848.0001)

•

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

•

en:caused by mutation in the titin gene (ttn, 188840.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the heat-shock 27-kd protein 3 gene (hspb3, 604624.0001).

•

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

•

en:caused by mutation in the dentin sialophosphoprotein gene (dspp, 125485.0003)

•

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

•

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

•

en:caused by mutation in the complement component 2 gene (c2, 613927.0001)

•

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

•

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

•

en:remainder of cases secondary to maternal disomy

•

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

•

en:caused by mutation in the 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 gene (papss2, 603005.0001)

•

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

•

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

•

en:susceptibility conferred by mutation in the cd46 antigen gene (cd46, 120920.0001)

•

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

•

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

•

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 solute carrier family 30 (zinc transporter), member 10 gene (slc30a10, 611146.0001)

•

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

•

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

•

en:caused by mutation in the long-chain base subunit 1 of the serine palmitoyltransferase gene (sptlc1, 605712.0001)

•

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

•

en:caused by mutation in the eukaryotic translation initiation factor 4a, isoform 3, gene (eif4a3, 608546.0001)

•

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

•

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

•

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

•

en:caused by mutation in the beta-b3 crystallin gene (crybb3, 123630.0001)

•

en:susceptibility conferred by mutation in the lysyl oxidase-like 1 gene (loxl1, 153456.0001)

•

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

•

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

•

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

•

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

•

en:caused by deletion (1.7mb) of 1q41-q42

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the filamin c gene (flnc, 102565.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation or trinucleotide repeat expansion (gaa)n in the frataxin gene (fxn, 606829.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the neurotrophic tyrosine kinase receptor, type 1, gene (ntrk1, 191315.0001)

•

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

•

en:caused by mutation in the mitochondrial complex i, subunit nd3 gene (mtnd3, 516002.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the camp-dependent protein kinase, catalytic, gamma gene (prkacg, 176893.0001)

•

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

•

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

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0013)

•

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

•

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

•

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

•

en:caused by mutation in the heparin cofactor ii gene (hcf2, 142360.0001)

•

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

•

en:caused by mutation in the atlastin gtpase 3 gene (atl3, 609369.0001)

•

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 hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase (hadha, 600890.0003)

•

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

•

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

•

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

•

en:caused by mutation in the centromeric protein j gene (cenpj, 609279.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta-1 catenin gene (ctnnb1, 116806.0017)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial transfer rna, mitochondrial, serine, 1 gene (mtts1, 590080.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 4 gene (ndufs4, 602694.0004)

•

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

•

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

•

en:caused by mutation in the manan-binding lectin serine protease-1 gene (masp1, 600521.0001)

•

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 paraplegin gene (spg7, 602783.0001)

•

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

•

en:caused by mutation in the homolog of the chlamydomonas intraflagellar transport-43 gene (itf43, 614068.0001)

•

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

•

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

•

en:caused by mutation in the isoleucyl-trna synthetase 2 gene (iars2, 612801.0001)

•

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

•

en:caused by mutation in the homolog of the drosophila fat tumor suppressor 4 gene (fat4, 612411.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the lim homeo box gene 4 (lhx4, 602146.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the leiomodin 3 (lmod3, 616112.0001)

•

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

•

en:caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (pparg, 601487.0007)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the sonic hedgehog gene (shh, 600725.0016)

•

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

•

en:caused by mutation in the splicing factor 3b, subunit 4 gene (sf3b4, 605593.0001)

•

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

•

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

•

en:caused by mutation in the stt3, subunit of the oligosaccharyltransferase complex, s. cerevisiae, homolog of, b gene (stt3b, 608605.0001)

•

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

•

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

•

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

•

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

•

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 transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0002)

•

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

•

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

•

en:caused by mutation in the ubiquinol-cytochrome c reductase complex assembly factor 3 gene (uqcc3, 616097.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the presenilin-1 gene (psen1, 104311.0023)

•

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

•

en:caused by mutation in the proliferating cell nuclear antigen gene (pcna, 176740.0001)

•

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

•

en:caused by mutation in the pyrroline-5-carboxylate reductase 1 gene (pycr1, 179035.0001)

•

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

•

en:caused by mutation in the recombination-activating gene 2 (rag2, 179616.0009)

•

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

•

en:caused by mutation in the ric-like protein without caax motif 1 gene (rit1, 609591.0001)

•

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 ring finger protein 216 gene (rnf216, 609948.0001)

•

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

•

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

•

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

•

en:caused by mutation in the sal-like 2 gene (sall2, 602219.0001)

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 gene (slc25a15, 603861.0001)

•

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 26 (sulfate transporter), member 8 gene (slc26a8, 608480.0001)

•

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

•

en:caused by mutation in the dehydrogenase e1 and transketolase domains-containing protein 1 gene (dhtkd1, 614984.0001)

•

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

•

en:caused by mutation in the atpase, h+ transporting, lysosomal, accessory protein-2 gene (atp6ap2, 300556.0001)

•

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

•

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

•

en:caused by mutation in the apolipoprotein a-i gene (apoa1, 107680.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the gli-kruppel family member 3 gene (gli3, 165240.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the req-like dna helicase type 4 gene (reql4, 603780.0001)

•

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

•

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

•

en:caused by mutations in the transforming growth factor, beta-induced, 68kd gene (tgfbi, 601692.0004)

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, epsilon polypeptide gene (chrne, 100725.0004)

•

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

•

en:caused by mutation in the glycogen branching enzyme gene (gbe1, 607839.0001)

•

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 dystrophin-associated glycoprotein 1 gene (dag1, 128239.0001)

•

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

•

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

•

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

•

en:caused by mutation in the endoplasmic reticulum lipid raft-associated protein 2 gene (erlin2, 611605.0001)

•

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

•

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

•

en:caused by mutation in the excision-repair, complementing defective, in chinese hamster, number 5 gene (ercc5, 133530.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the gap junction protein, gamma-2 gene (gjc2, 608803.0009)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the complement factor i gene (cfi, 217030.0001)

•

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

•

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

•

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

•

en:caused by mutation in the collagen xi, alpha-2 polypeptide gene (col11a2, 120290.0012)

•

en:caused by mutation in the colony-stimulating factor 1 receptor gene (csf1r, 164770.0001)

•

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

•

en:caused by mutation in the complement component 1, q subcomponent, b chain gene (c1qb, 120570.0001)

•

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

•

en:caused by mutation in the component of oligomeric golgi complex 6 gene (cog6, 606977.0001)

•

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

•

en:caused by mutation in the component x gene of the pyruvate dehydrogenase complex (pdhx, 608769.0001)

•

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

•

en:caused by mutation in the coronin 1a gene (coro1a, 605000.0001)

•

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

•

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

•

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

•

en:caused by mutation in the ddhd domain-containing protein 2 gene (ddhd2, 615003.0001)

•

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

•

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

•

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

•

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 wd repeat-containing protein 72 gene (wdr72, 613214.0001)

•

en:caused by mutation in the phosphatidylinositol glycan, class l gene (pigl, 605947.0001).

•

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

•

en:caused by mutation in the n-deacetylase/n-sulfotransferase 1 gene (ndst1, 600853.0001)

•

en:caused by mutation in the nadh dehydrogenase (ubiquinone) fe-s protein 4 gene (ndufs4, 602694.0001)

•

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

•

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

•

en:caused by mutation in the ofd1 protein gene (ofd1, 300170.0001)

•

en:caused by mutation in the oligophrenin 1 gene (ophn1, 300127.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the plasma membrane ca(2+)-transporting atpase 3 gene (atp2b3, 300014.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the integrin-alpha-6 gene (itga6, 147556.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila notch 2 gene (notch2, 600275.0003)

•

en:caused by mutation in the homolog of the s. cerevisiae fig4 gene (fig4, 609390.0001)

•

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 human homolog of the drosophila 'patched' gene 1 (ptch1, 601309.0001)

•

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

•

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 kat8 regulatory nsl complex subunit 1 gene (kansl1, 612452.0001)

•

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

•

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

•

en:caused by mutation in the kinesin-5a gene (kif5a, 602821.0001)

•

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

•

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

•

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

•

en:caused by mutation in the metabotropic glutamate receptor 1 gene (grm1, 604473.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0001)

•

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

•

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

•

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

•

en:caused by mutation in the transient receptor potential cation channel, subfamily v, member 4 gene (trpv4, 605427.0006)

•

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

•

en:rare cases secondary to chromosome translocation

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the protection of telomeres 1 gene (pot1, 606478.0001)

•

en:meier-gorlin syndrome 4

•

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

•

en:caused by mutation in the transmembrane protease, serine 6 gene (tmprss6, 609862.0001)

•

en:caused by mutation in the transient receptor potential cation channel, subfamily a, member 1 gene (trpa1, 604775.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the rho gdp-dissociation inhibitor alpha gene (arhgdia, 601925.0001)

•

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

•

en:caused by mutation in the rotatin gene (rttn, 610436.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the synaptic nuclear envelope protein-1 gene (syne1, 608441.0001)

•

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

•

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

•

en:caused by mutation in the gnas complex locus gene (gnas, 139320.0031)

•

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

•

en:caused by mutations in the holocarbyoxylase synthetase gene (hlcs, 253270.0001)

•

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

•

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

•

en:caused by mutations in the n-acetyl-alpha-d-glucosaminidase gene (naglu, 609701.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the adamts-like protein 2 gene (adamtsl2, 612277.0001)

•

en:caused by mutations in the cytochrome p450, subfamily i, dioxin-inducible, polypeptide 1 gene (cyp1b1, 601771.0001)

•

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

•

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-l-iduronidase gene (idua, 252800.0004)

•

en:caused by mutation in the arylsulfatase b gene (arsb, 611542.0001)

•

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

•

en:caused by mutation in the axonemal dynein assembly factor 3 gene (dnaaf3, 614566.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the c2 calcium-dependent domain-containing protein 3 gene (c2cd3, 615944.0001)

•

en:linked to locus at 17q12-q21.

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:contiguous gene syndrome caused by deletion of 3.2mb deletion on 8q22.1

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the paired box gene 4 (pax4, 167413.0022 )

•

en:translocation 21, 3.3%

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cadherin-1 gene (cdh1, 192090.0002)

•

en:caused by mutation in the fukutin-related protein gene (fkrp, 606596.0016)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor 3 gene (fgf3, 164950.0001)

•

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

•

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

•

en:caused by mutation in the fras1-related extracellular matrix protein 2 gene (frem2, 608945.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gap junction protein, alpha-1 gene (gja1, 121014.0021)

•

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

•

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

•

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

•

en:caused by mutation in the gli-kruppel family member 2 gene (gli2, 165230.0008)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the carboxypeptidase a6 gene (cpa6, 609562.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cln8 gene (cln8, 607837.0001)

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 88c gene (ccdc88c, 611204.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the nephrocystin gene (nphp1, 607100.0005)

•

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

•

en:caused by mutation in the nuclear receptor binding set domain protein 1 gene (nsd1, 606681.0001)

•

en:caused by mutation in the opa1 gene (opa1, 605290.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homeobox a13 gene (hoxa13, 142959.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of chlamydomonas dynein regulatory complex, subunit 1 gene (drc1, 615288.0001)

•

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

•

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

•

en:caused by mutation in the homolog of the drosophila crumbs 2 gene (crb2, 609720.0001)

•

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

•

en:caused by mutation in the homolog of the drosophila snail 2 gene (snai2, 602150.0001)

•

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 kinesin family member 7 gene (kif7, 611254.0001)

•

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

•

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

•

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

•

en:caused by mutation in the interferon regulatory factor 8 gene (irf8, 601565.0001)

•

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

•

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

•

en:caused by mutation in the junctional adhesion molecule 3 gene (jam3, 606871.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the transforming growth factor, beta-3 gene (tgfb3, 190230.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:linked to a locus at 16q.

•

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

•

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

•

en:susceptibility conferred by mutation in the major histocompatibility complex, class i, c gene (hla-c, 142840.0001)

•

en:susceptibility conferred by mutation in the neurofilament, heavy polypeptide gene (nefh, 162230.0001)

•

en:(prph2, 179605.0008)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the pr-domain containing protein-5 gene (prdm5, 614161.0001)

•

en:caused by mutation in the presenilin 2 gene (psen2, 600759.0001)

•

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

•

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

•

en:caused by mutation in the pyruvate dehydrogenase kinase, isoenzyme 3 gene (pdk3, 300906.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 5 (sodium iodide symporter), member 5 gene (slc5a5, 601843.0001)

•

en:caused by mutation in the special at-rich sequence-binding protein 2 gene (satb2, 608148.0001)

•

en:caused by mutation in the sry-box-10 gene (sox10, 602229.0005)

•

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

•

en:caused by mutations in the carnitine palmitoyltransferase ii gene (cpt2, 600650.0001)

•

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

•

en:caused by mutation in the aspartyl-trna synthetase 2 gene (dars2, 610956.0001)

•

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

•

en:caused by mutation in the alanyl-trna synthetase 2 gene (aars2, 612035.0001)

•

en:caused by mutation in the alanyl-trna synthetase gene (aars, 601065.0001)

•

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

•

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

•

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 amyloid precursor protein gene (app, 104760.0001)

•

en:caused by mutation in the ankyrin repeat domain-containing protein 26 gene (ankrd26, 610855.0001)

•

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

•

en:caused by mutation in the ataxia-telangiectasia and rad3-related gene (atr, 601215.0002)

•

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

•

en:caused by mutation in the atp-binding cassette, subfamily b, member 11 gene (abcb11, 603201.0002)

•

en:caused by mutation in the atp synthase f1 complex assembly factor-2 gene (atpaf2, 608918.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the acid beta-glucosidase gene (gba, 606463.0006)

•

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

•

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

•

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

•

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

•

en:caused by by mutations in the prophet of pit1, paired-like homeodomain transcription factor gene (prop1, 601538.0001)

•

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

•

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

•

en:caused by microdeletions of 11p13

•

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

•

en:caused by deletion of 6-12mb on 3pter-p25

•

en:caused by mutations in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0010)

•

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

•

en:caused by mutation in the abhydrolase domain containing-5 gene (abhd5, 604780.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calsequestrin 1 gene (casq1, 114250.0001)

•

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

•

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

•

en:caused by mutation in the fibroblast growth factor receptor 3 gene (fgfr3, 134934.0028)

•

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

•

en:caused by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase-1 gene (enpp1, 173335.0002)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the fez family zinc finger protein-1 gene (fezf1, 613301.0001)

•

en:caused by mutation in the fibrillin 2 gene (fbn2, 121050.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0005)

•

en:caused by mutation in the forkhead box f1 gene (foxf1, 601089.0001)

•

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

•

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

•

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

•

en:caused by mutation in the gamma subunit of the nonvoltage-gated sodium channel 1 gene (scnn1g, 600761.0002)

•

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

•

en:caused by mutation in the gata-binding protein-4 gene (gata4, 600576.0007)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the early growth response-2 gene (egr2, 129010.0001)

•

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

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0001)

•

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

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, beta polypeptide-1 gene (chrnb1, 100710.0001)

•

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

•

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

•

en:caused by mutation in the chromatin-modifying protein 2b (chmp2b, 609512.0001)

•

en:caused by mutation in the codanin 1 gene (cdan1, 607465.0001)

•

en:caused by mutation in the cofilin 2 gene (cfl2, 601443.0001)

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0001)

•

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

•

en:caused by mutation in the dnaj/hsp40 homolog, subfamily c, member 3 gene (dnajc3, 601184.0001)

•

en:caused by mutation in the collagen vi, alpha-1 polypeptide gene (col6a1, 120220.0007)

•

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

•

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

•

en:caused by mutation in the cyclic nucleotide-gated channel, alpha-3 gene (cnga3, 600053.0001)

•

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

•

en:caused by mutation in the cytochrome p450, family 2, subfamily u, polypeptide 1 gene (cyp2u1, 610670.0001)

•

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

•

en:caused by mutation in the delta-aminolevulinate synthase 2 gene (alas2, 301300.0015)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the myelin protein zero gene (mpz, 159440.0021)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mitochondrial complex i, subunit nd6 gene (mtnd6, 516006.0005)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by palindrome-mediated interchromosomal insertions on chromosome xq27.1

•

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

•

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

•

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

•

en:caused by mutation in the ww domain-containing oxidoreductase gene (wwox, 605131.0004)

•

en:caused by mutation in the x-linked aristaless-related homeobox gene (arx, 300382.0015)

•

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

•

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

•

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

•

en:caused by mutation in zinc finger mynd-containing protein-15 gene (zmynd15, 614312.0001)

•

en:caused by trinucleotide repeat expansion (cag)n in the drpla gene (drpla, 607462.0001)

•

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

•

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

•

en:contiguous gene syndrome caused by homozygous deletion of approximately 122kb on chromosome 11p15-p14

•

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

•

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

•

en:susceptibility conferred by mutation in the homolog of the s. pombe checkpoint kinase 2 gene (chek2, 604373.0007)

•

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

•

en:susceptibility conferred by mutation in the platelet thromboxane a2 receptor gene (tbxa2r, 188070.0001)

•

en:susceptibility conferred by mutation in the soluble adenylyl cyclase gene (sac, 605205.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the receptor-interacting serine-threonine kinase-4 gene (ripk4, 605706.0001)

•

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

•

en:caused by mutation in the s. cerevisiae homolog of mediator of rna polymerase ii transcription, subunit 12 gene (med12, 300188.0002)

•

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

•

en:caused by mutation in the serpin peptidase inhibitor, clade b (ovalbumin), member 7 gene (serpinb7, 603357.0001)

•

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

•

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 sonic hedgehog gene (shh, 600725.0014)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the hexokinase-1 gene (hk1, 142600.0003)

•

en:caused by mutation in the homolog of the s. cerevisiae alg13 gene (alg13, 300776.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha subunit of the nonvoltage-gated sodium channel 1 gene (scnn1a, 600228.0001)

•

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

•

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

•

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

•

en:caused by mutation in the anoctamin 5 gene gene (ano5, 608662.0001)

•

en:caused by mutation in the aspartyl-trna synthetase gene (dars, 603084.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the atpase, ca(2+)-transporting, type 2c, member 1 gene (atp2c1, 604384.0001)

•

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

•

en:caused by mutation in the avian myelocytomatosis viral (v-myc) oncogene homolog (myc, 190080.0001)

•

en:caused by mutation in the bbs10 gene (bbs10, 610148.0001)

•

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

•

en:caused by mutation in the alpha-4 laminin gene (lama4, 600133.0001)

•

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

•

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

•

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

•

en:caused by mutations in the atp-binding cassette, subfamily b, member 7 gene (abcb7, 300135.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutations in the low density lipoprotein receptor gene (ldlr, 143890.0001)

•

en:caused by mutations in the ocrl1 gene (ocrl1, 300535.0001)

•

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

•

en:caused by mutations in the prion protein gene (prnp, 176640.0018)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the beta-1,3-n-acetylglucosaminyltransferase gene (b3gnt1, 605581.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the disintegrin and metalloproteinase domain 17 gene (adam17, 603639.0001)

•

en:caused by mutation in the distal-less homeobox-5 gene (dlx5, 600028.0002)

•

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

•

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

•

en:caused by mutation in the beta cardiac myosin heavy chain gene (myh7, 160760.0028)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the filamin a gene (flna, 300017.0025)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cathepsin c gene (ctsc, 602365.0001)

•

en:caused by mutation in the collagen, type xxv, alpha-1 gene (col25a1, 610004.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the calcium/calmodulin-dependent serine protein kinase gene (cask, 300172.0001)

•

en:caused by mutation in the camp-specific phosphodiesterase 4d gene (pde4d, 600129.0001)

•

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

•

en:caused by mutation in the cartilage-associated protein gene (crtap, 605497.0001)

•

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

•

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

•

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

•

en:caused by mutation in the cell death-inducing dffa-like effector c gene (cidec, 612120.0001)

•

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 coiled-coil-helix-coiled-coil-helix domain-containing protein 10 gene (chchd10, 615903.0003)

•

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

•

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

•

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

•

en:caused by mutation in the cholinergic receptor, nicotinic, beta-1 subunit (chrnb1, 100710.0003)

•

en:caused by mutation in the chloride channel 5 gene (clcn5, 300008.0001)

•

en:caused by mutation in the cgmp-dependent regulatory protein kinase, type 1 gene (prkg1, 176894.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ubiquitin carboxyl-terminal esterase l1 gene (uchl1, 191342.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the was gene (was, 300392.0012)

•

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

•

en:caused by simultaneous mutation in the g protein-coupled receptor 98 gene (gpr98, 602851.0010) and the pdz domain-containing 7 gene (pdzd7, 612971.0002)

•

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

•

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

•

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

•

en:contiguous gene syndrome caused by deletion of 7.1 to 8.7mb of 16p12.2-p11.2

•

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

•

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

•

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

•

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

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8229871 • caches: c1=6 c2=1002 c3=1

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