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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking IRF6 and popliteal pterygium syndrome 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 IRF6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to popliteal pterygium syndrome  (DOID:0060055)
  • 0 papers in RGD have been used to annotate IRF6


    • An association has been curated linking IRF6 and popliteal pterygium syndrome 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 IRF6 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to popliteal pterygium syndrome  (DOID:0060055)
  • 0 papers in RGD have been used to annotate IRF6
  • Curation Notes: ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome
  • Original References(s): PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 PMID:16096995 PMID:16160700 PMID:17551329 PMID:18209213 PMID:18478600 PMID:18617879 PMID:19036739 PMID:19282774 PMID:19449419 PMID:19734457 PMID:20803643 PMID:21045959 PMID:22440537 PMID:22488974 PMID:23949966 PMID:24936515 PMID:25547932 PMID:25548624 PMID:25691407 PMID:25741868 PMID:28492532 PMID:29453417 PMID:31468312


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