Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ABCA4 and blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • 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 by association of genotype and phenotype with RGD:8645939 (Homo sapiens)
  • 281 RGD objects have been annotated to blindness  (DOID:1432)
  • 17 papers in RGD have been used to annotate ABCA4
  • Curation Notes: ClinVar Annotator: match by term: Legal blindness
  • Original References(s): PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 PMID:26780318 PMID:28041643 PMID:28492532 PMID:9973280


  • Go Back to source page   Continue to Ontology report