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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking VCP and hyperphosphatasia with impaired intellectual development syndrome 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:127233606 (Homo sapiens)
  • 52 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 2  (DOID:0070434)
  • 11 papers in RGD have been used to annotate VCP
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
  • Original References(s): PMID:22683086 PMID:24417746 PMID:28492532


    • An association has been curated linking VCP and hyperphosphatasia with impaired intellectual development syndrome 2 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13499915|RGD:13819113 (Homo sapiens) & RGD:13499915|RGD:13819113 (Homo sapiens)
  • 52 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 2  (DOID:0070434)
  • 11 papers in RGD have been used to annotate VCP
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
  • Original References(s): PMID:28492532


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