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10 Possible Causes for B3GALT5, gene

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  • Ring Chromosome 21

    In AML, gene amplification by ring formation has been demonstrated only in another three patients (amplification of the MLL gene in two cases and of the ETV6 gene in one case[ncbi.nlm.nih.gov] -AS121q22.2 P59052 B3AS1_HUMAN Putative uncharacterized protein B3GALT5-AS1 (B3GALT5 antisense RNA 1) (B3GALT5 antisense gene protein 1) [C21orf88] BACE2 21q22.3 Q9Y5Z0 BACE2[uniprot.org] The team created a mouse model without the DYRK1A gene and saw that two types of white blood cells, known as B and T lymphocytes, were unable to develop without the gene.[nmbreakthroughs.org]

  • Monosomy 21q

    Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.[genecards.org] C21orf96 Deletion 21q22.13 36860867-37937316 CLDN14, SIM2, HLCS, DSCR6, PIGP, TTC3, DSCR9, DSCR3, DYRK1A, KCNJ6 Deletion 21q22.2 39569960-41357412 BRWD1, SH3BGR, C21orf88, B3GALT5[omicsonline.org] 11343311 ) Lee C....Morton C.C. 2001 27 Prenatal diagnosis of a fetus with megacystis and monosomy 21. ( 11438959 ) Chang L.W....Chang F.M. 2001 28 Characterization of a novel gene[malacards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] A-B: Genetic Testing by Individual Gene Gene Protein Associated Disease(s) AARS2 Alanyl-tRNA Synthetase 2, Mitochondrial Familial Hypertrophic Cardiomyopathy (HCM) ABCA1 ATP-Binding[bcm.edu]

  • Nestor-Guillermo Progeria Syndrome

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] An inherited LMNA gene mutation in atypical Progeria syndrome. Am J Med Genet A 2012;158A(11):2881-7.[scholar.um5.ac.ma]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    The gene symbol is from the HUGO Gene Nomenclature Committee (HGNC) database.[dna.universeofatoms.com] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes.[genepeeks.com] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Premature Chromatid Separation Trait

    811 The long hunt for the Huntingtons chorea gene 240 positional cloning of an imprinted gene?[books.google.com] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] An important gene associated with Premature Chromatid Separation Trait is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B).[malacards.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Human Gene Mutation Database (HGMD) RMRP SNPedia medical, phenotypic, and genealogical associations of SNPs for RMRP SNP Genotyping and Copy Number Assay Products No data[genecards.org] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] gene; Usher syndrome type IIIA and retinitis pigmentosa-61 caused by mutations in the CLRN1 gene).[julesberman.blogspot.com]

  • AICA-Ribosiduria

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] The outlier genes identified in the two HPRT deficient patients were different and none of these genes to our knowledge are disease associated.[ojrd.biomedcentral.com]

  • Colobomatous Microphthalmia - Rhizomelic Dysplasia Syndrome

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] Frkp-Related MDDGC5 LGMD2I 607155 Genetic Test Registry Myopathy, Myofibrillar, 2 Alpha-B Crystallinopathy Myopathy, Desmin-Related, Associated With Mutation In The CRYAB Gene[ukgtn.nhs.uk]

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