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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Tmem8b and hyperphosphatasia with impaired intellectual development syndrome 2 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 TMEM8B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 49 RGD objects have been annotated to hyperphosphatasia with impaired intellectual development syndrome 2  (DOID:0070434)
  • 3 papers in RGD have been used to annotate Tmem8b
  • Curation Notes: ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6
  • Original References(s): PMID:22683086 PMID:24417746 PMID:28492532


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