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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Apbb1 and Niemann-Pick disease type B in Rattus norvegicus.        

  • 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 APBB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Niemann-Pick disease type B  (DOID:0070112)
  • 34 papers in RGD have been used to annotate Apbb1
  • Curation Notes: ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis
  • Original References(s): PMID:12369017 PMID:1391960 PMID:15221801 PMID:17011332 PMID:18815062 PMID:1885770 PMID:2023926 PMID:21502868 PMID:25741868 PMID:27725636 PMID:28492532 PMID:29995201


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