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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking G6pdx and severe congenital encephalopathy due to MECP2 mutation 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 G6PD (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to severe congenital encephalopathy due to MECP2 mutation  (DOID:0111932)
  • 59 papers in RGD have been used to annotate G6pdx
  • Curation Notes: ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly
  • Original References(s): PMID:15351775 PMID:15689435 PMID:16080119 PMID:17088400 PMID:17172942 PMID:22578097 PMID:23220634 PMID:26930212 PMID:28492532


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