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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking COL5A1 and Multifocal Fibromuscular Dysplasia in Chlorocebus sabaeus.        

  • 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 COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Multifocal Fibromuscular Dysplasia  (DOID:9003323)
  • 0 papers in RGD have been used to annotate COL5A1


    • An association has been curated linking COL5A1 and Multifocal Fibromuscular Dysplasia in Chlorocebus sabaeus.        

  • 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 COL5A1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Multifocal Fibromuscular Dysplasia  (DOID:9003323)
  • 0 papers in RGD have been used to annotate COL5A1
  • Curation Notes: ClinVar Annotator: match by term: COL5A1-related condition | ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL | ClinVar Annotator: match by term: Fibromuscular dysplasia, multifocal
  • Original References(s): PMID:10471441 PMID:10602121 PMID:10946364 PMID:11992482 PMID:12145749 PMID:15580559 PMID:17576681 PMID:19019335 PMID:19370768 PMID:20301422 PMID:20635400 PMID:20979576 PMID:22696272 PMID:24033266 PMID:24951259 PMID:25741868 PMID:26608033 PMID:27011056 PMID:27975164 PMID:28074886 PMID:28454995 PMID:28492532 PMID:28550590 PMID:29578302 PMID:29924831 PMID:30858776 PMID:31903434 PMID:32938213 PMID:33737726 PMID:33914963 PMID:35723357 PMID:36411388 PMID:9536098


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