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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ndufs2 and hypertrophic cardiomyopathy in Ictidomys tridecemlineatus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Automated assignment of GO, PW and RDO ISO annotations across species
  • The annotation has been inferred from sequence orthology with NDUFS2 (Homo sapiens)
  • 269 RGD objects have been annotated to hypertrophic cardiomyopathy  (DOID:11984)
  • 0 papers in RGD have been used to annotate Ndufs2
  • Qualifier: susceptibility
  • Curation Notes: associated with Mitochondrial Encephalomyopathies;DNA:missense mutations: :p.R228Q, p.P229Q, p.S413P (human)
  • Original References(s): PMID:11220739 REF_RGD_ID:1600573


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