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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Ece1 and Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction in Chinchilla lanigera.        

  • 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 ECE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  (DOID:9001782)
  • 2 papers in RGD have been used to annotate Ece1


    • An association has been curated linking Ece1 and Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 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 ECE1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction  (DOID:9001782)
  • 2 papers in RGD have been used to annotate Ece1
  • Curation Notes: ClinVar Annotator: match by term: Hirschsprung disease, cardiac defects, and autonomic dysfunction
  • Original References(s): PMID:25741868 PMID:34298581 PMID:8530372 PMID:9915973


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