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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL4A1 and retinal arterial tortuosity in Sus scrofa.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to retinal arterial tortuosity  (DOID:0111547)
  • 0 papers in RGD have been used to annotate COL4A1
  • Curation Notes: ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of
  • Original References(s): PMID:16199547 PMID:17078022 PMID:17576681 PMID:19344236 PMID:20818663 PMID:22574627 PMID:22914737 PMID:23225343 PMID:24374867 PMID:24628545 PMID:25228067 PMID:25457163 PMID:25741868 PMID:26310487 PMID:26467025 PMID:28492532 PMID:30653986 PMID:31051113 PMID:31069529 PMID:31230195 PMID:31719132 PMID:33353976 PMID:33527515 PMID:35711275 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 PMID:9536098 PMID:9724608


    • An association has been curated linking COL4A1 and retinal arterial tortuosity in Sus scrofa.        

  • 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 COL4A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to retinal arterial tortuosity  (DOID:0111547)
  • 0 papers in RGD have been used to annotate COL4A1


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