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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C2676343

Associations d'idées

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425

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

•

en:caused by mutation in the synaptonemal complex protein-3 gene (sycp3, 604759.0001)

•

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

•

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

•

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

•

en:caused by mutations in the sequestosome 1 gene (sqstm1, 601530.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0002)

•

en:caused by mutation in the dicarbonyl/l-xylulose reductase gene (dcxr, 608347.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the type v collagen, alpha-2 gene (col5a2, 120190.0003)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the whirlin gene (whrn, 607928.0002)

•

en:caused by mutation in the folliculin gene (flcn, 607273.0001)

•

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

•

en:caused by mutation in the receptor-associated protein of the synapse, 43-kd gene (rapsn, 601592.0001)

•

en:caused by mutation in the non-pou domain-containing octamer-binding protein gene (nono, 300084.0001)

•

en:caused by mutation in the ribosomal protein l26 gene (rpl26, 603704.0001)

•

en:caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (eef1a2, 602959.0001)

•

en:caused by mutation in the pyruvate carboxylase gene (pc, 608786.0001)

•

en:caused by mutation in the receptor expression-enhancing protein 1 gene (reep1, 609139.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0001)

•

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

•

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

•

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

•

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 galactosamine-6-sulfatase gene (galns, 612222.0001).

•

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

•

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

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, folate), member 32 gene (slc25a32, 610815.0001)

•

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

•

en:susceptibility conferred by mutation in the uncoupling protein-2 gene (ucp2, 601693.0001)

•

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

•

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

•

en:susceptibility conferred by mutation in the forkhead box e1 gene (foxe1, 602617.0004)

•

en:caused by mutation in the endoplasmic reticulum membrane protein complex, subunit 1 gene (emc1, 616846.0002)

•

en:caused by mutation in the t-type voltage-dependent calcium channel, alpha-1g subunit gene (cacna1g, 604065.0001)

•

en:caused by mutation in the k(lysine) acetyltransferase 6a gene (kat6a, 601408.0001)

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0009)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0004)

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0001)

•

en:caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (tshb, 188540.0001)

•

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

•

en:caused by mutation in the signal transducer and activator of transcription 3 gene (stat3, 102582.0008)

•

en:caused by mutation in the protease inhibitor 1 gene (pi, 107400.0001)

•

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

•

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

•

en:caused by mutation in the interleukin 7 receptor gene (il7r, 146661.0001)

•

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

•

en:caused by mutation in the homeo box gene expressed in es cells (hesx1, 601802.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 8 gene (ccdc8, 614145.0001)

•

en:caused by mutations in the coagulation factor viii gene (f8, 306700.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-transducing activity polypeptide-1 gene (gnat1, 139330.0003)

•

en:caused by mutation in the ferm domain-containing protein 4a gene (frmd4a, 616305.0001)

•

en:caused by mutation in the iq motif- and sec7 domain-containing protein 2 (iqsec2, 300522.0001)

•

en:caused by mutation in the ikaros family zinc finger 1 gene (ikzf1, 603023.0001)

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0024)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the adhesion g protein-coupled receptor e2 gene (adgre2, 606100)

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0004)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene (smarcb1, 601607.0001)

•

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

•

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

•

en:caused by mutation in the c-type lectin domain family 7, member a gene (clec7a, 606264.0001)

•

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

•

en:caused by mutations in the selenoprotein n-1 gene (sepn1, 606210.0001)

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0001)

•

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

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

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the homolog of the mouse hydrocephalus-inducing gene (hydin, 610812.0001)

•

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

•

en:caused by mutation in the doublecortin domain-containing protein 2 gene (dcdc2, 605755.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the filamin a gene (flna, 300017.0025)

•

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

•

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

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0001)

•

en:susceptibility conferred by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0002)

•

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

•

en:caused by mutation in the oxysterol-binding protein-like protein 2 gene (osbpl2, 606731.0001)

•

en:susceptibility conferred by mutation in the nk2 homeobox 1 gene (nkx2-1, 600635.0012)

•

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

•

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

•

en:caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (pnkp, 605610.0002)

•

en:susceptibility conferred by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0004)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0004)

•

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 very low density lipoprotein receptor (vldlr, 192977.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

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

•

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 survival of motor neuron 1 gene (smn1, 600354.0002)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cyld gene (605018.0003)

•

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

•

en:caused by mutations in the platelet glycoprotein iiia gene (itgb3, 173470.0001)

•

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

•

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

•

en:caused by mutations in the cartilage-derived morphogenetic protein-1 gene (cdmp1, 601146.0005)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the pleckstrin homology domain-containing protein, family g, member 2 gene (plekhg2, 611893.0001)

•

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

•

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

•

en:caused by mutation in the 120-kd centrosomal protein gene (cep120, 613446.0001)

•

syndrome

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

•

en:caused by mutation in the transmembrane anterior posterior transformation-1 gene (tapt1, 612758.0001)

•

en:caused by mutation in the human homolog of the drosophila suppressor of fused gene (sufu, 607035.0003)

•

en:caused by mutation in the follicle-stimulating hormone, beta-polypeptide gene (fshb, 136530.0001)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0015)

•

en:caused by mutation in the dedicator of cytokinesis 2 gene (dock2, 603122.0001)

•

en:caused by mutation in the uncoupling protein-3 gene (ucp3, 602044.0001)

•

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

•

en:caused by mutation in the actin, alpha, skeletal muscle 1 gene (acta1, 102610.0018)

•

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

•

en:caused by mutation in the 104-kd centrosomal protein gene (cep104, 616690.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 t-box 15 gene (tbx15, 604127.0001)

•

en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

•

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

•

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

•

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

•

en:caused by mutations in the zinc finger transcription factor trps1 (trps1, 604386.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 gene (smarcad1, 612761.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0024)

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0010)

•

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

•

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

•

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

•

en:caused by mutation in the bestrophin 1 gene (best1, 607854.0020)

•

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

•

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

•

en:caused by mutation in the fras1 gene (fras1, 607830.0001)

•

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

•

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

•

en:caused by mutation in the chromosome 21 open reading frame-2 gene (c21orf2, 603191.0001)

•

en:caused by mutation in the collagen, type vi, alpha-3 gene (col6a3, 120250.0007)

•

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

•

en:caused by mutation in the cytochrome c oxidase assembly factor 6 gene (coa6, 614772.0001)

•

en:caused by mutation in the homolog of the e. coli muts, 6 gene (msh6, 600678.0001)

•

en:contiguous gene deletion of 91.6 kb to 4.74 mb on chromosome 16p13.2

•

gène

•

en:caused by mutation in the phosphoserine phosphatase gene (psph, 172480.0001)

•

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

•

en:caused by mutation in the histidyl-trna synthetase 2 gene (hars2, 600783.0001)

•

en:caused by mutation in the udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3 gene (galnt3, 601756.0001)

•

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

•

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

•

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

•

en:caused by mutation in the glutaryl-coa dehydrogenase gene (gcdh, 608801.0001)

•

en:caused by mutation in the protocadherin-15 gene (pcdh15, 605514.0006)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the plectin 1 gene (plec1, 601282.0005)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0002)

•

en:caused by mutation in the collagen ii, alpha-1 polypeptide gene (col2a1, 120140.0005)

•

en:caused by mutation in the homolog of the mouse peripherin 2 gene (prph2, 179605.0021)

•

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

•

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

•

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

•

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 coagulation factor v gene (f5, 612309.0004)

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0012)

•

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

•

en:caused by mutation in the collagen iv, alpha-1 polypeptide gene (col4a1, 120130.0007)

•

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

•

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

•

en:caused by mutation in the alpha-1 type xvii collagen gene (col17a1, 113811.0015)

•

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

•

en:caused by mutation in the zinc finger protein 408 gene (znf408, 616454.0003)

•

en:caused by mutation in the sequestosome 1 gene (sqstm1, 601530.0001)

•

en:caused by mutation in the zic family member 3 gene (zic3, 300265.0001)

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor 8 gene (prpf8, 607300.0001)

•

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

•

en:caused by mutation in the ankyrin 1 gene (ank1, 612641.0001)

•

en:caused by mutation in the homolog of the c. elegans unc80 gene (unc80, 612636.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 telo2-interacting protein 2 gene (tti2, 614426.0001)

•

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

•

en:caused by mutation in the hexokinase 1 gene (hk1, 142600.0001)

•

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

•

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

•

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

•

en:caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 14 gene (ptpn14, 603155.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mlc1 gene (mlc1, 605908.0001)

•

en:caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (tnfsf5, 308230.0001)

•

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

•

en:caused by mutation in the growth factor-independent 1b gene (gfi1b, 604383.0001)

•

en:caused by mutation in the coiled-coil domain-containing protein 111 gene (ccdc111, 615421.0001)

•

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

•

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

•

en:caused by mutation in the complement component 4a gene (c4a, 120810.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the centromeric protein f gene (cenpf, 600236.0001)

•

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

•

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

•

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

•

en:caused by mutation in the potassium voltage-gated channel, shal-related subfamily member-3 gene (kcnd3, 605411.0005)

•

en:caused by mutation in the transmembrane protein 216 gene (tmem216, 613277.0002)

•

en:caused by mutation in the collagen ii, alpha-polypeptide gene (col2a1, 120140.0055)

•

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

•

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

•

en:caused by mutation in the inwardly rectifying potassium channel, subfamily j, member 6 gene (kcnj6, 600877.0001)

•

en:caused by mutation in the alpha-2 actinin gene (actn2, 102573.0001)

•

en:caused by deletion of a 32.5-kb regulatory region (xysr) -640 to -607 kb upstream of the sry-box-9 gene (sox9, 608160.0018)

•

en:caused by mutation in the interferon induced with helicase c domain 1 gene (ifih1, 606951.0009)

•

en:caused by mutation in the vesicle-associated membrane protein 1 gene (vamp1, 185880.0001)

•

en:caused by mutation in the cyld gene (605018.0005)

•

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

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 1 gene (flvcr1, 609144.0001)

•

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

•

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

•

en:caused by mutation in the microcephalin gene (mcph1, 607117.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the scavenger receptor class f, member 2 gene (scarf2, 613619.0001)

•

en:caused by mutation in the prosaposin gene (psap, 176801.0009).

•

en:caused by mutation in the pseudouridine synthase-1 gene (pus1, 608109.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the kinesin family member 1b gene (kif1b, 605995.0002).

•

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

•

en:caused by mutation in the homolog of the drosophila twist 2 gene (twist2, 607556.0001)

•

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

•

en:caused by mutation in the alanyl-trna synthetase gene (aars, 601065.0003)

•

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

•

en:caused by mutation in the homolog of the drosophila sine oculis homeo box 1 gene (six1, 601205.0003)

•

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

•

en:caused by mutation in the retinol-binding protein-4 gene (rbp4, 180250.0004)

•

en:caused by mutation in the tubulin, beta-4a gene (tubb4a, 602662.0002)

•

en:caused by mutation in the alpha-3 integrin gene (itga3, 605025.0001)

•

en:caused by mutation in the interferon, alpha, beta, and omega, receptor 2 gene (irnar2, 602376.0002)

•

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

•

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

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 120435.0006)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the retinol dehydrogenase 12 gene (rdh12, 608830.0001)

•

en:susceptibility conferred by mutation in the complement factor h gene (chf, 134370.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the tolloid-like 1 gene (tll1, 606742.0001)

•

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

•

en:caused by 750kb to 2.7mb deletion of chromosome 19q13.11

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:susceptibility conferred by mutation in the melanocortin 2 receptor accessory protein 2 gene (mrap2, 615410.0001)

•

en:caused by somatic mutation in the janus kinase 2 gene (jak2, 147796)

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

•

en:caused by mutations in the nijmegen breakage syndrome gene (nbs1, 602667.0001)

•

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

•

en:balanced reciprocal translocation between chromosomes x and 15

•

en:caused by mutation in the homolog of drosophila twist-2 gene (twist2, 607556.0005)

•

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

•

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

•

en:caused by mutation in the sh3 and px domains-containing protein 2b gene (sh3pxd2b, 613293.0001)

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0006)

•

en:caused by mutation in the alpha-fetoprotein gene (afp, 104150.0001)

•

en:caused by mutation in gene encoding cystein-rich pdz domain-binding protein (cript, 604594.0001)

•

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

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0020)

•

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 2 gene (smarca2, 600014.0001)

•

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

•

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

•

en:caused by mutation in the mmaa gene (mmaa, 607481.0001)

•

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

•

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

•

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

•

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

◀

‹

424

en:caused by mutation in the hexokinase 1 gene (hk1, 142600.0001)

•

en:caused by mutation in the pseudouridine synthase-1 gene (pus1, 608109.0001)

•

en:caused by 750kb to 2.7mb deletion of chromosome 19q13.11

•

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

•

en:caused by mutation in the alpha-2 actinin gene (actn2, 102573.0001)

•

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 c. elegans mab21 homolog-like 2 gene (mab21l2, 604357.0001)

•

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

•

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

•

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

•

en:caused by mutation in the protease inhibitor 1 gene (pi, 107400.0001)

•

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

•

en:caused by mutation in the mevalonate kinase gene (mvk, 251170.0002)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the ikaros family zinc finger 1 gene (ikzf1, 603023.0001)

•

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

•

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

•

en:caused by mutation in the receptor expression-enhancing protein 1 gene (reep1, 609139.0006)

•

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

•

en:caused by mutation in the potassium voltage-gated channel, shal-related subfamily member-3 gene (kcnd3, 605411.0005)

•

en:caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene (hsd17b10, 300256.0001)

•

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

•

en:caused by mutation in the uncoupling protein-3 gene (ucp3, 602044.0001)

•

en:susceptibility conferred by mutation in the melanocortin 2 receptor accessory protein 2 gene (mrap2, 615410.0001)

•

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

•

en:caused by mutation in the homolog of the drosophila twist 2 gene (twist2, 607556.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the chromosome 21 open reading frame-2 gene (c21orf2, 603191.0001)

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0006)

•

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

•

en:caused by mutation in the centromeric protein f gene (cenpf, 600236.0001)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the feline leukemia virus subgroup c receptor 1 gene (flvcr1, 609144.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the solute carrier family 26, member 4 gene (slc26a4, 605646.0004)

•

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

•

en:caused by mutation in the udp-n-acetyl-alpha-d-galactosamine:polypeptide n-acetylgalactosaminyltransferase 3 gene (galnt3, 601756.0001)

•

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

•

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

•

en:caused by mutation in the homeo box gene expressed in es cells (hesx1, 601802.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mlc1 gene (mlc1, 605908.0001)

•

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

•

en:caused by mutation in the prosaposin gene (psap, 176801.0009).

•

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

•

en:caused by mutation in the scavenger receptor class f, member 2 gene (scarf2, 613619.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the histidyl-trna synthetase 2 gene (hars2, 600783.0001)

•

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

•

en:caused by mutation in the collagen i, alpha-2 polypeptide gene (col1a2, 120160.0004)

•

en:caused by mutation in the ribosomal protein l26 gene (rpl26, 603704.0001)

•

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

•

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

•

en:caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (eef1a2, 602959.0001)

•

en:caused by mutation in the alpha-1 type xvii collagen gene (col17a1, 113811.0015)

•

en:caused by mutation in the alanyl-trna synthetase gene (aars, 601065.0003)

•

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

•

en:caused by mutation in the receptor-associated protein of the synapse, 43-kd gene (rapsn, 601592.0001)

•

en:caused by mutation in the iq motif- and sec7 domain-containing protein 2 (iqsec2, 300522.0001)

•

en:susceptibility conferred by mutation in the uncoupling protein-2 gene (ucp2, 601693.0001)

•

en:caused by mutation in the dedicator of cytokinesis 2 gene (dock2, 603122.0001)

•

en:caused by mutation in the homolog of the e. coli muts, 6 gene (msh6, 600678.0001)

•

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

•

en:caused by mutation in the homolog of the drosophila sine oculis homeo box 1 gene (six1, 601205.0003)

•

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

•

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

•

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

•

en:caused by mutation in the fras1 gene (fras1, 607830.0001)

•

en:susceptibility conferred by mutation in the kinesin family member 1b gene (kif1b, 605995.0002).

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the retinol dehydrogenase 12 gene (rdh12, 608830.0001)

•

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

•

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

•

en:caused by mutation in the synaptonemal complex protein-3 gene (sycp3, 604759.0001)

•

en:caused by mutation in the signal transducer and activator of transcription 3 gene (stat3, 102582.0008)

•

en:caused by mutation in the swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 gene (smarcb1, 601607.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the mmaa gene (mmaa, 607481.0001)

•

en:caused by mutation in gene encoding cystein-rich pdz domain-binding protein (cript, 604594.0001)

•

en:caused by mutation in the microcephalin gene (mcph1, 607117.0001)

•

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

•

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

•

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

•

en:caused by mutation in the 104-kd centrosomal protein gene (cep104, 616690.0001)

•

en:caused by mutation in the oxysterol-binding protein-like protein 2 gene (osbpl2, 606731.0001)

•

en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, folate), member 32 gene (slc25a32, 610815.0001)

•

en:caused by mutation in the collagen ii, alpha-polypeptide gene (col2a1, 120140.0055)

•

en:caused by mutation in the endoplasmic reticulum membrane protein complex, subunit 1 gene (emc1, 616846.0002)

•

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

•

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

•

en:caused by mutation in the myosin vi gene (myo6, 600970.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the cyld gene (605018.0003)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the trf1-interacting nuclear factor 2 gene (tinf2, 604319.0002)

•

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

•

en:caused by mutations in the nijmegen breakage syndrome gene (nbs1, 602667.0001)

•

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

•

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

•

en:caused by mutation in the androgen receptor gene (ar, 313700.0020)

•

en:susceptibility conferred by mutation in the complement factor h gene (chf, 134370.0001)

•

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

•

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

•

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

•

en:caused by mutation in the cyld gene (605018.0005)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the alpha-3 integrin gene (itga3, 605025.0001)

•

en:caused by mutation in the swi/snf related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 gene (smarca2, 600014.0001)

•

en:caused by mutation in the tectonin beta-propeller repeat-containing protein 2 gene (tecpr2, 615000.0001)

•

en:caused by deletion of a 32.5-kb regulatory region (xysr) -640 to -607 kb upstream of the sry-box-9 gene (sox9, 608160.0018)

•

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

•

en:caused by mutation in the ferm domain-containing protein 4a gene (frmd4a, 616305.0001)

•

en:caused by mutation in the homolog of drosophila twist-2 gene (twist2, 607556.0005)

•

en:caused by mutation in the interferon induced with helicase c domain 1 gene (ifih1, 606951.0009)

•

en:caused by mutation in the phosphoserine phosphatase gene (psph, 172480.0001)

•

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

•

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

•

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

•

en:caused by mutations in the tumor necrosis factor ligand superfamily, member 5 gene (tnfsf5, 308230.0001)

•

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

•

en:caused by mutation in the dicarbonyl/l-xylulose reductase gene (dcxr, 608347.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the coagulation factor viii gene (f8, 306700.0001)

•

en:caused by mutations in the galactosamine-6-sulfatase gene (galns, 612222.0001).

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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 homolog of the drosophila discs large 3 gene (dlg3, 300189.0001)

•

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

•

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 mitochondrial ribosomal protein s22 gene (mrps22, 605810.0001)

•

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

•

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

•

en:caused by mutation in the platelet-derived growth factor receptor, beta polypeptide gene (pdgfrb, 173410.0001)

•

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

•

en:caused by mutation in the sequestosome 1 gene (sqstm1, 601530.0001)

•

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

•

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

•

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

•

en:caused by mutation in the alpha-1 gap junction protein gene (gja1, 121014.0024)

•

en:caused by mutation in the homolog of the c. elegans unc80 gene (unc80, 612636.0001)

•

en:caused by mutation in the tubulin, beta-4a gene (tubb4a, 602662.0002)

•

en:susceptibility conferred by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0004)

•

en:caused by mutation in the sh3 and px domains-containing protein 2b gene (sh3pxd2b, 613293.0001)

•

en:caused by mutation in the cytochrome c oxidase assembly factor 6 gene (coa6, 614772.0001)

•

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

•

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

•

en:caused by mutation in the interleukin 7 receptor gene (il7r, 146661.0001)

•

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

•

en:caused by mutation in the protein-tyrosine phosphatase, nonreceptor-type, 14 gene (ptpn14, 603155.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the desmoplakin gene (dsp, 125647.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the c-type lectin domain family 7, member a gene (clec7a, 606264.0001)

•

en:caused by mutation in the bestrophin 1 gene (best1, 607854.0020)

•

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

•

en:caused by mutations in the sequestosome 1 gene (sqstm1, 601530.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the phosphatase and tensin homolog gene (pten, 601728.0004)

•

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

•

en:caused by mutation in the stt3, subunit of the oligosaccharyltransferase complex, s. cerevisiae, homolog of, a gene (stt3a, 601134.0001)

•

en:susceptibility conferred by mutation in the tumor necrosis factor receptor superfamily, member 11a gene (tnfrsf11a, 603499.0002)

•

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

•

en:caused by mutation in the homolog of the s. cerevisiae precursor mrna-processing factor 8 gene (prpf8, 607300.0001)

•

en:caused by mutation in the follicle-stimulating hormone, beta-polypeptide gene (fshb, 136530.0001)

•

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

•

en:caused by mutation in the transmembrane anterior posterior transformation-1 gene (tapt1, 612758.0001)

•

en:caused by mutation in the 120-kd centrosomal protein gene (cep120, 613446.0001)

•

en:caused by mutation in the type v collagen, alpha-2 gene (col5a2, 120190.0003)

•

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

•

en:caused by mutation in the homolog of the e. coli muts 2 gene (msh2, 120435.0006)

•

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

•

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

•

en:caused by mutation in the doublecortin domain-containing protein 2 gene (dcdc2, 605755.0001)

•

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

•

en:caused by mutations in the cartilage-derived morphogenetic protein-1 gene (cdmp1, 601146.0005)

•

en:caused by mutations in the platelet glycoprotein iiia gene (itgb3, 173470.0001)

•

en:caused by mutation in the cat eye syndrome chromosome region, candidate 1 gene (cecr1, 607575.0010)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the growth factor-independent 1b gene (gfi1b, 604383.0001)

•

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

•

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

•

en:caused by mutation in the tolloid-like 1 gene (tll1, 606742.0001)

•

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

•

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

•

en:caused by mutations in the zinc finger transcription factor trps1 (trps1, 604386.0001)

•

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

•

en:caused by mutation in the vesicle-associated membrane protein 1 gene (vamp1, 185880.0001)

•

en:caused by mutation in the actin, alpha, skeletal muscle 1 gene (acta1, 102610.0018)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the inwardly rectifying potassium channel, subfamily j, member 6 gene (kcnj6, 600877.0001)

•

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

•

en:caused by mutation in the alpha-fetoprotein gene (afp, 104150.0001)

•

en:caused by mutation in the pleckstrin homology domain-containing protein, family g, member 2 gene (plekhg2, 611893.0001)

•

en:caused by mutation in the whirlin gene (whrn, 607928.0002)

•

en:caused by mutation in the fibroblast growth factor receptor-3 gene (fgfr3, 134934.0015)

•

en:caused by mutation in the k(lysine) acetyltransferase 6a gene (kat6a, 601408.0001)

•

en:caused by mutation in the transmembrane protein 216 gene (tmem216, 613277.0002)

•

en:caused by mutation in the retinol-binding protein-4 gene (rbp4, 180250.0004)

•

en:caused by mutation in the adhesion g protein-coupled receptor e2 gene (adgre2, 606100)

•

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

•

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

•

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

•

en:caused by mutation in the glutaryl-coa dehydrogenase gene (gcdh, 608801.0001)

•

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

•

en:caused by mutation in the piezo1 ion channel gene (piezo1, 611184.0009)

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 8 gene (ccdc8, 614145.0001)

•

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

•

en:caused by mutation in the homolog of the mouse hydrocephalus-inducing gene (hydin, 610812.0001)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the survival of motor neuron 1 gene (smn1, 600354.0002)

•

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

•

en:caused by mutation in the steroid 5-alpha-reductase 3 gene (srd5a3, 611715.0001)

•

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

•

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

•

en:caused by mutations in the selenoprotein n-1 gene (sepn1, 606210.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by 1 to 3.8-mb duplication on chromosome 2q31.1

•

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 stromalin-3 gene (stag3, 608489.0001)

•

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

•

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

•

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

•

en:caused by mutation in the zinc finger protein 408 gene (znf408, 616454.0003)

•

en:caused by mutation in the non-pou domain-containing octamer-binding protein gene (nono, 300084.0001)

•

en:contiguous gene deletion of 91.6 kb to 4.74 mb on chromosome 16p13.2

•

en:caused by mutation in the t-type voltage-dependent calcium channel, alpha-1g subunit gene (cacna1g, 604065.0001)

•

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

•

en:susceptibility conferred by mutation in the forkhead box e1 gene (foxe1, 602617.0004)

•

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

•

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

•

en:caused by mutation in the protocadherin-15 gene (pcdh15, 605514.0006)

•

en:susceptibility conferred by mutation in the nk2 homeobox 1 gene (nkx2-1, 600635.0012)

•

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

•

en:caused by mutation in the homolog of the mouse peripherin 2 gene (prph2, 179605.0021)

•

en:caused by mutation in the folliculin gene (flcn, 607273.0001)

•

en:caused by mutation in the alpha-l-iduronidase gene (idua, 252800.0012)

•

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

•

en:caused by mutation in the complement component 4a gene (c4a, 120810.0001)

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the swi/snf-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, dead/h box-containing, 1 gene (smarcad1, 612761.0001)

•

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

•

en:caused by somatic mutation in the janus kinase 2 gene (jak2, 147796)

•

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

•

en:caused by mutation in the collagen iv, alpha-1 polypeptide gene (col4a1, 120130.0007)

•

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

•

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

•

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

•

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

•

en:caused by mutations in the plectin 1 gene (plec1, 601282.0005)

•

en:caused by mutation in the filamin a gene (flna, 300017.0025)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen, type vi, alpha-3 gene (col6a3, 120250.0007)

•

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

•

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

•

en:caused by mutation in the pyruvate carboxylase gene (pc, 608786.0001)

•

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

•

en:caused by mutation in the interferon, alpha, beta, and omega, receptor 2 gene (irnar2, 602376.0002)

•

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

•

en:caused by mutation in the guanine nucleotide-binding protein, alpha-transducing activity polypeptide-1 gene (gnat1, 139330.0003)

•

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

•

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

•

en:caused by mutation in the human homolog of the drosophila suppressor of fused gene (sufu, 607035.0003)

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

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

•

en:caused by mutation in the collagen i, alpha-1 polypeptide gene (col1a1, 120150.0024)

•

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

•

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, 120140.0005)

•

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

•

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

•

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

•

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

•

en:caused by mutation in the thyroid-stimulating hormone, beta polypeptide gene (tshb, 188540.0001)

•

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

•

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

•

en:caused by mutation in the coiled-coil domain-containing protein 111 gene (ccdc111, 615421.0001)

•

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

•

en:caused by mutation in the ankyrin 1 gene (ank1, 612641.0001)

•

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

•

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

•

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

•

en:caused by mutation in the polynucleotide kinase 3-prime phosphatase gene (pnkp, 605610.0002)

•

en:caused by mutation in the zic family member 3 gene (zic3, 300265.0001)

•

en:balanced reciprocal translocation between chromosomes x and 15

•

syndrome

◀

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8235397 • caches: c1=6 c2=427 c3=425

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