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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Pik3r2 and Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 PIK3R2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 46 RGD objects have been annotated to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1  (DOID:9009086)
  • 0 papers in RGD have been used to annotate Pik3r2


    • An association has been curated linking Pik3r2 and Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 in Ictidomys tridecemlineatus.        

  • 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 PIK3R2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 46 RGD objects have been annotated to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1  (DOID:9009086)
  • 0 papers in RGD have been used to annotate Pik3r2
  • Curation Notes: ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
  • Original References(s): PMID:16357568 PMID:17576681 PMID:17675034 PMID:21984976 PMID:22729224 PMID:23745724 PMID:24497998 PMID:25741868 PMID:26520804 PMID:26860062 PMID:27854409 PMID:28086757 PMID:28492532 PMID:28502725 PMID:33818783 PMID:34170046 PMID:9536098


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