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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pigv and hyperphosphatasia with impaired intellectual development syndrome 1 in Mus musculus.        

  • 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 PIGV (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 1  (DOID:0070433)
  • 7 papers in RGD have been used to annotate Pigv


    • An association has been curated linking Pigv and hyperphosphatasia with impaired intellectual development syndrome 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Krawitz PM, etal., Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.
  • The annotation has been inferred from sequence orthology with PIGV (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 11 additional annotations were made from Krawitz PM, etal., Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.
  • 5 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 1  (DOID:0070433)
  • 7 papers in RGD have been used to annotate Pigv
  • Curation Notes: DNA:missense mutations:CDS:multiple (human)


    • An association has been curated linking Pigv and hyperphosphatasia with impaired intellectual development syndrome 1 in Mus musculus.        

  • 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 PIGV (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 1  (DOID:0070433)
  • 7 papers in RGD have been used to annotate Pigv
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2 | ClinVar Annotator: match by term: HYPERPHOSPHATASIA WITH IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1 | ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1 | ClinVar Annotator: match by term: MABRY SYNDROME
  • Original References(s): PMID:1724113 PMID:17351347 PMID:20578257 PMID:20802478 PMID:21739589 PMID:22228761 PMID:22315194 PMID:24033266 PMID:24129430 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28688840


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