Annotation Detail

Information
Associated Genes
FANCG
Associated Variants
FANCG MUTATION
FANCG MUTATION
Associated Disease
Optic Atrophy, Hereditary, Leber
Source Database
DisGeNET
Description
Patients presented with typical LHON phenotype with bilateral visual acuity loss, abnormal color vision, central scotoma and hyperemic discs with no leakage on FAG.
Pubmed
25690485
Section of the abstract supporting the evidence
RESULTS
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs