NOXO1, NADPH oxidase organizer 1, 124056

N. diseases: 14; N. variants: 5
Disease: Progressive cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908192
rs121908192
Entrez Id: 2671;124056
Gene Symbol: GFER;NOXO1
GFER;NOXO1
CUI: C4021566
Disease:
Progressive cataract 		0.010 GeneticVariation BEFREE 84, 594-604] described an R194H mutation of human ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children. 20593814 2010