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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Fam83h and amelogenesis imperfecta type 3A in Ictidomys tridecemlineatus.        

  • 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 FAM83H (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to amelogenesis imperfecta type 3A  (DOID:0110055)
  • 0 papers in RGD have been used to annotate Fam83h


    • An association has been curated linking Fam83h and amelogenesis imperfecta type 3A in Ictidomys tridecemlineatus.        

  • 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 FAM83H (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to amelogenesis imperfecta type 3A  (DOID:0110055)
  • 0 papers in RGD have been used to annotate Fam83h
  • Curation Notes: ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMINERALIZATION TYPE | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3A | ClinVar Annotator: match by term: FAM83H-related condition
  • Original References(s): PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33034243


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