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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Car5a and CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO in Rattus norvegicus.        

  • 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 CA5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  (DOID:9002957)
  • 8 papers in RGD have been used to annotate Car5a


  • An association has been curated linking Car5a and CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO 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 CA5A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 RGD objects have been annotated to CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO  (DOID:9002957)
  • 8 papers in RGD have been used to annotate Car5a
  • Curation Notes: ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to
  • Original References(s): PMID:17576681 PMID:24530203 PMID:25741868 PMID:25834911 PMID:26913920 PMID:28492532 PMID:31641285 PMID:9536098


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