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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Epb41l1 and autosomal dominant intellectual developmental disorder 11 in Rattus norvegicus.        

  • 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 EPB41L1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 11  (DOID:0070041)
  • 12 papers in RGD have been used to annotate Epb41l1


    • An association has been curated linking Epb41l1 and autosomal dominant intellectual developmental disorder 11 in Rattus norvegicus.        

  • 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 EPB41L1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 11  (DOID:0070041)
  • 12 papers in RGD have been used to annotate Epb41l1
  • Curation Notes: ClinVar Annotator: match by term: EPB41L1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 11
  • Original References(s): PMID:11050113 PMID:19503082 PMID:21376300 PMID:25326635 PMID:25741868 PMID:28492532


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