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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Enam and amelogenesis imperfecta type 1B 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 ENAM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 2 papers in RGD have been used to annotate Enam


    • An association has been curated linking Enam and amelogenesis imperfecta type 1B 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 ENAM (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 2 papers in RGD have been used to annotate Enam
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
  • Original References(s): PMID:11487571 PMID:11978766 PMID:12828988 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:22414746 PMID:25741868 PMID:28334996 PMID:28492532 PMID:31478359 PMID:33864320


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