RGD Annotation Report for Leber hereditary optic neuropathyRat Genome Database

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An association has been curated linking EPHX1 and Leber hereditary optic neuropathy in Chlorocebus sabaeus.

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 EPHX1 (Homo sapiens)
16 RGD objects have been annotated to Leber hereditary optic neuropathy (DOID:705)
0 papers in RGD have been used to annotate EPHX1
Qualifier: onset
Curation Notes: DNA:missense mutation:cds:p.Y113H (human)
Original References(s): PMID:15838728 REF_RGD_ID:5688732

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