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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking AP1S2 and syndromic X-linked intellectual disability 5 in Canis lupus familiaris.        

  • 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 AP1S2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to syndromic X-linked intellectual disability 5  (DOID:0060800)
  • 0 papers in RGD have been used to annotate AP1S2


  • An association has been curated linking AP1S2 and syndromic X-linked intellectual disability 5 in Canis lupus familiaris.        

  • 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 AP1S2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to syndromic X-linked intellectual disability 5  (DOID:0060800)
  • 0 papers in RGD have been used to annotate AP1S2
  • Curation Notes: ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: Pettigrew syndrome
  • Original References(s): PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:18428203 PMID:2018058 PMID:23756445 PMID:25741868 PMID:28492532 PMID:33847015 PMID:5054319


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