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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Rpgrip1l and nephronophthisis in Chinchilla lanigera.        

  • 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]
  • 113 RGD objects have been annotated to nephronophthisis  (DOID:12712)
  • 2 papers in RGD have been used to annotate Rpgrip1l
  • Curation Notes: ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8
  • Original References(s): PMID:18414213 PMID:19430481 PMID:20301500 PMID:25741868 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31390572


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