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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rpgrip1l and COACH Syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 RPGRIP1L (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to COACH Syndrome 1  (DOID:9000639)
  • 0 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: ClinVar Annotator: match by term: COACH syndrome 1
  • Original References(s): PMID:17558407 PMID:17558409 PMID:19430481 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31390572


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