GTPBP2, GTP binding protein 2, 54676

N. diseases: 44; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235272
Disease: Retinal damage
Retinal damage
0.010 GeneticVariation phenotype BEFREE A recent report of identification of another splice site mutation in GTPBP2 in mice that causes neurodegeneration, and retinal damage provides supportive evidence for our finding. 26675814 2016