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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Ap1s2 and syndromic X-linked intellectual disability 5 in Rattus norvegicus.        

  • 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)
  • 6 papers in RGD have been used to annotate Ap1s2


  • An association has been curated linking Ap1s2 and syndromic X-linked intellectual disability 5 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with AP1S2 (Homo sapiens) [(EXP) inferred from experiment]
  • 2 RGD objects have been annotated to syndromic X-linked intellectual disability 5  (DOID:0060800)
  • 6 papers in RGD have been used to annotate Ap1s2
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17186471 PMID:17617514 PMID:23756445


  • An association has been curated linking Ap1s2 and syndromic X-linked intellectual disability 5 in Rattus norvegicus.        

  • 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)
  • 6 papers in RGD have been used to annotate Ap1s2
  • Curation Notes: 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:33847015 PMID:5054319


  • An association has been curated linking Ap1s2 and syndromic X-linked intellectual disability 5 in Rattus norvegicus.        

  • The association was inferred from sequence or structural similarity (ISS)
  •  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Ap1s2 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to syndromic X-linked intellectual disability 5  (DOID:0060800)
  • 6 papers in RGD have been used to annotate Ap1s2
  • Curation Notes: OMIM:304340


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