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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CDH3 and congenital hypotrichosis with juvenile macular dystrophy in Pan paniscus.        

  • 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 CDH3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital hypotrichosis with juvenile macular dystrophy  (DOID:0110711)
  • 0 papers in RGD have been used to annotate CDH3


    • An association has been curated linking CDH3 and congenital hypotrichosis with juvenile macular dystrophy in Pan paniscus.        

  • 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 CDH3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital hypotrichosis with juvenile macular dystrophy  (DOID:0110711)
  • 0 papers in RGD have been used to annotate CDH3
  • Curation Notes: ClinVar Annotator: match by term: Congenital hypotrichosis with juvenile macular dystrophy | ClinVar Annotator: match by term: Hypotrichosis with juvenile macular dystrophy
  • Original References(s): PMID:10420194 PMID:11544476 PMID:12445216 PMID:14708629 PMID:15805154 PMID:16199547 PMID:17342797 PMID:25741868 PMID:27386845 PMID:28041643 PMID:28492532 PMID:29620724 PMID:30710256 PMID:31696509 PMID:32581362 PMID:34301208


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