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12 Possible Causes for B3GALT4, gene

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  • Baller-Gerold Syndrome

    COL4A3BP; ARSD; SGMS1; CERS3B; LASS1; ARSI; FA2H; ASAH1A; GBA; PPM1LB Glycosphingolipid biosynthesis - ganglio series ST3GAL5; GLB1; ST6GALNAC5; ST6GALNAC3; ST8SIA1; SLC33A1; B3GALT4[creativebiomart.net] Gene Specifics: Gene Notes RECQL4 Single exon deletions/duplications of exon 1 to 3 of the RECQL4 gene (NM_004260.3) are not reliably detected by this method.[fulgentgenetics.com] We identified a novel TWIST gene mutation in this patient, a Glu181Stop mutation predicting a premature termination of the protein carboxy-terminal to the helix 2 domain.[ncbi.nlm.nih.gov]

  • Xeroderma Pigmentosum Complementation Group B

    Biochemistry II, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-0065 (Japan) 2014-03-07 Highlights: †Melanocytes showed low ST8SIA1 and high B3GALT4[worldwidescience.org] Previous GeneCards Identifiers for XPC Gene GC03M014115 GC03M014161 GC03M014165 The protein encoded by this gene is a key component of the XPC complex, which plays an important[genecards.org] Northern blot analysis showed that the gene is continuously expressed in all stages of fly development.[ncbi.nlm.nih.gov]

  • Familial Febrile Seizures 1

    According to our filtering criteria, only 7 variants were common to all 3 siblings, but none of the corresponding genes ( ABL2 , BOD1L1 , B3GALT4 , EXO1 , HERC4 , OR5K1 ,[ng.neurology.org] Genes and mapped phenotypes Gene ID: 2233, updated on 8-Apr-2017 Summary Official Symbol FEB1 provided by HGNC Official Full Name febrile convulsions 1 provided by HGNC Primary[ncbi.nlm.nih.gov] He received in 2009 a US Patent as Inventor of “Amyloid ß Gene Vaccines”.[books.google.com]

  • Familial Febrile Convulsions Type 6

    He received in 2009 a US Patent as Inventor of “Amyloid ß Gene Vaccines”.[books.google.com] According to our filtering criteria, only 7 variants were common to all 3 siblings, but none of the corresponding genes ( ABL2 , BOD1L1 , B3GALT4 , EXO1 , HERC4 , OR5K1 ,[ng.neurology.org] (MJD) : gene Ataxin 3 ( ATXN3 ); Atassia spinocerebellare, tipo 6 (SCA6) : gene Calcium channel, voltage-dependent ( CACNA1 ); Atassia spinocerebellare, tipo 7 (SCA7) : gene[isn.cnr.it]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] B3GALT4 G:603095 . . 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

    B3GALT4 G:603095 . . 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] 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

    B3GALT4 G:603095 . . 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 gene symbol is from the HUGO Gene Nomenclature Committee (HGNC) database.[dna.universeofatoms.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 3

    B3GALT4 G:603095 . . B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes.[genepeeks.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Premature Chromatid Separation Trait

    B3GALT4 G:603095 . . B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] 811 The long hunt for the Huntingtons chorea gene 240 positional cloning of an imprinted gene?[books.google.com] An important gene associated with Premature Chromatid Separation Trait is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B).[malacards.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    B3GALT4 G:603095 . . B3GALT5 G:604066 . . B3GALTL G:610308 GR-Bell Peters-plus syndrome, 261540 (3) B3GAT1 G:151290 . . B3GAT2 G:607497 . . B3GAT3 G:606374 .[usegalaxy.org] 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] gene; Usher syndrome type IIIA and retinitis pigmentosa-61 caused by mutations in the CLRN1 gene).[julesberman.blogspot.com]

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