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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking ELP4 and foveal hypoplasia 1 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 ELP4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to foveal hypoplasia 1  (DOID:0070530)
  • 0 papers in RGD have been used to annotate ELP4
  • Curation Notes: ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1 | ClinVar Annotator: match by term: Foveal hypoplasia and presenile cataract syndrome
  • Original References(s): PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532 PMID:8364574


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