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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PITPNM3 and cone-rod dystrophy 5 in Pan paniscus.        

  • 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 PITPNM3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to cone-rod dystrophy 5  (DOID:0111010)
  • 0 papers in RGD have been used to annotate PITPNM3


  • An association has been curated linking PITPNM3 and cone-rod dystrophy 5 in Pan paniscus.        

  • 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 PITPNM3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to cone-rod dystrophy 5  (DOID:0111010)
  • 0 papers in RGD have been used to annotate PITPNM3
  • Curation Notes: ClinVar Annotator: match by term: Cone-rod dystrophy 5
  • Original References(s): PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 PMID:27160483 PMID:28492532 PMID:30718709 PMID:32483926 PMID:8586428


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