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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking H6pd and cortisone reductase deficiency 1 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 H6PD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cortisone reductase deficiency 1  (DOID:0090141)
  • 14 papers in RGD have been used to annotate H6pd


  • An association has been curated linking H6pd and cortisone reductase deficiency 1 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 H6PD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cortisone reductase deficiency 1  (DOID:0090141)
  • 14 papers in RGD have been used to annotate H6pd
  • Curation Notes: ClinVar Annotator: match by term: Cortisone reductase deficiency 1
  • Original References(s): PMID:10522997 PMID:11150889 PMID:12858176 PMID:15827106 PMID:16091483 PMID:16817821 PMID:17062770 PMID:18628520 PMID:25741868 PMID:28492532


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