Diko : en:caused by mutation in the exostosin glycosyltransferase 2 gene (ext2, 608210.0008)

en:caused by mutation in the exostosin glycosyltransferase 2 gene (ext2, 608210.0008)

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

Liens externes

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umls:C4228087

Associations d'idées

[F]

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108

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

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en:associated with mutation in the beta-1 catenin gene (ctnnb1, 116806.0013)

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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)

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

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

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

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

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

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

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

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

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

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

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en:a contiguous gene syndrome caused by deletion (1.5mb - 3.0mb) of 22q11.2

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

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en:balanced reciprocal translocation between chromosomes x and 15

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

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

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

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

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

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

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

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

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en:associated with mutation in the neuroligin-3 gene (nlgn3, 300336.0001)

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en:a contiguous gene syndrome caused by deletion of the stereocilin gene (strc, 606440) and the sperm-associated cation channel-2 gene (catsper2, 607249) gene

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mutation

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

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

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

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

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

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

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

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

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

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

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en:associated with mutation in the p53 tumor protein gene (tp53, 191170.0006)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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gène

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

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

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

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

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

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en:caused by mutation in the solute carrier family 25 (mitochondrial carrier, phosphate carrier) member 26 gene (slc25a26, 611037.0001)

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transférase

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

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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)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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en:caused by mutation in the solute carrier family 12 (potassium/chloride transporter), member 5 gene (slc12a5, 606726.0001)

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en:caused by mutation in the tumor protein p53 gene (tp53, 191170.0036)

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

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

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

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

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

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

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

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

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

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

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