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 Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Ishikawa K, etal., Jpn J Ophthalmol. 2005 Mar-Apr;49(2):121-6.
7 additional annotations were made from Ishikawa K, etal., Jpn J Ophthalmol. 2005 Mar-Apr;49(2):121-6.
46 RGD objects have been annotated to Leber hereditary optic neuropathy (DOID:705)
52 papers in RGD have been used to annotate EPHX1
Qualifier: onset
Curation Notes: DNA:missense mutation:cds:p.Y113H (human)

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