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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ptf1a and Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus 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 PTF1A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus  (DOID:9008816)
  • 14 papers in RGD have been used to annotate Ptf1a
  • Curation Notes: ClinVar Annotator: match by term: Congenital absence of insulin-producing beta cells with diabetes mellitus
  • Original References(s): PMID:18591390 PMID:25741868 PMID:28492532


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