RGD Annotation Report for Leigh diseaseRat Genome Database

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An association has been curated linking Ndufs2 and Leigh disease in Heterocephalus glaber.

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)
167 RGD objects have been annotated to Leigh disease (DOID:3652)
0 papers in RGD have been used to annotate Ndufs2
Curation Notes: DNA:missense mutation:cds:p.M292T (human)
Original References(s): PMID:20819849 REF_RGD_ID:6482269

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.