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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking TRPC4AP and glutatione synthetase deficiency with 5-oxoprolinuria in Pan paniscus.        

  • 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 TRPC4AP (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 50 RGD objects have been annotated to glutatione synthetase deficiency with 5-oxoprolinuria  (DOID:0081034)
  • 0 papers in RGD have been used to annotate TRPC4AP
  • Curation Notes: ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY
  • Original References(s): PMID:12638941 PMID:15717202 PMID:28492532


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