DGKG, diacylglycerol kinase gamma, 1608

N. diseases: 29; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1
0.010 GeneticVariation disease BEFREE Mutational analysis of the entire coding region of DAGK3 in 19 unrelated German OPA1 patients has not revealed any disease-causing mutations, therefore excluding DAGK3 as a major cause underlying OPA1. 10071200 1999