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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Aagab and punctate palmoplantar keratoderma type I in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Furniss M, etal., J Invest Dermatol. 2014 Jun;134(6):1749-52. doi: 10.1038/jid.2014.4. Epub 2014 Jan 3.
  • The annotation has been inferred from sequence orthology with AAGAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Furniss M, etal., J Invest Dermatol. 2014 Jun;134(6):1749-52. doi: 10.1038/jid.2014.4. Epub 2014 Jan 3.
  • 1 RGD objects have been annotated to punctate palmoplantar keratoderma type I  (DOID:0080214)
  • 9 papers in RGD have been used to annotate Aagab
  • Curation Notes: DNA:mutations:cds:


    • An association has been curated linking Aagab and punctate palmoplantar keratoderma type I 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 AAGAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to punctate palmoplantar keratoderma type I  (DOID:0080214)
  • 9 papers in RGD have been used to annotate Aagab


    • An association has been curated linking Aagab and punctate palmoplantar keratoderma type I 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 AAGAB (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to punctate palmoplantar keratoderma type I  (DOID:0080214)
  • 9 papers in RGD have been used to annotate Aagab
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Aagab and punctate palmoplantar keratoderma type I 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 AAGAB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to punctate palmoplantar keratoderma type I  (DOID:0080214)
  • 9 papers in RGD have been used to annotate Aagab
  • Curation Notes: ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A
  • Original References(s): PMID:17576681 PMID:23000146 PMID:23064416 PMID:23563198 PMID:23633024 PMID:24390136 PMID:25741868 PMID:26608363 PMID:28492532 PMID:31526046 PMID:9536098


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