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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col19a1 and methylmalonic aciduria and homocystinuria type cblF 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 COL19A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to methylmalonic aciduria and homocystinuria type cblF  (DOID:0050717)
  • 8 papers in RGD have been used to annotate Col19a1
  • Curation Notes: ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF
  • Original References(s): PMID:19136951 PMID:21303734 PMID:28492532


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