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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Col18a1 and fundus dystrophy in Mus musculus.        

  • 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 COL18A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 722 RGD objects have been annotated to fundus dystrophy  (DOID:8501)
  • 20 papers in RGD have been used to annotate Col18a1
  • Curation Notes: ClinVar Annotator: match by term: Retinal dystrophy
  • Original References(s): PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 PMID:23667181 PMID:25456301 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 PMID:32581362 PMID:34828430


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