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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking B4gat1 and congenital muscular dystrophy-dystroglycanopathy type A13 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with B4GAT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A13  (DOID:0111238)
  • 0 papers in RGD have been used to annotate B4gat1


    • An association has been curated linking B4gat1 and congenital muscular dystrophy-dystroglycanopathy type A13 in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with B4GAT1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to congenital muscular dystrophy-dystroglycanopathy type A13  (DOID:0111238)
  • 0 papers in RGD have been used to annotate B4gat1
  • Curation Notes: ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • Original References(s): PMID:17576681 PMID:22219654 PMID:23877401 PMID:25558065 PMID:25741868 PMID:28492532 PMID:9536098


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