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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking B4GALT1 and congenital disorder of glycosylation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Hansske B, etal., J Clin Invest. 2002 Mar;109(6):725-33.
  • 2 additional annotations were made from Hansske B, etal., J Clin Invest. 2002 Mar;109(6):725-33.
  • 719 RGD objects have been annotated to congenital disorder of glycosylation  (DOID:5212)
  • 8 papers in RGD have been used to annotate B4GALT1
  • Qualifier: susceptibility
  • Curation Notes: DNA:insertion: ;1031insC


    • An association has been curated linking B4GALT1 and congenital disorder of glycosylation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11606031 (Homo sapiens)
  • 719 RGD objects have been annotated to congenital disorder of glycosylation  (DOID:5212)
  • 8 papers in RGD have been used to annotate B4GALT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital disorder of glycosylation
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking B4GALT1 and congenital disorder of glycosylation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens) & RGD:11609264|RGD:11634925|RGD:11635182|RGD:11635763|RGD:11645275|RGD:11647557|RGD:11651724|RGD:11653847|RGD:11659880|RGD:11663916 (Homo sapiens)
  • 719 RGD objects have been annotated to congenital disorder of glycosylation  (DOID:5212)
  • 8 papers in RGD have been used to annotate B4GALT1
  • Curation Notes: ClinVar Annotator: match by term: Congenital disorder of glycosylation


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