GLIS3, GLIS family zinc finger 3, 169792

N. diseases: 105; N. variants: 48
Disease: Optic Atrophy, Hereditary, Leber ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.010 GeneticVariation disease BEFREE The LHON mutation as well as several other mutations in strictly conserved amino acids in its vicinity were introduced into the NQO8 subunit of NDH-1, a bacterial homologue of ND1. 9718301 1998