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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pthlh and brachydactyly type E2 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 PTHLH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to brachydactyly type E2  (DOID:0110976)
  • 2 papers in RGD have been used to annotate Pthlh


    • An association has been curated linking Pthlh and brachydactyly type E2 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 PTHLH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to brachydactyly type E2  (DOID:0110976)
  • 2 papers in RGD have been used to annotate Pthlh
  • Curation Notes: ClinVar Annotator: match by term: Brachydactyly type E2
  • Original References(s): PMID:20170896 PMID:25741868 PMID:25801215 PMID:26763883 PMID:29947179 PMID:31283647


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