Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.030 GeneticVariation disease BEFREE An isolated complex I deficiency in muscle was identified due to a novel mutation (m.12425delA) in the MTND5 gene. 20018511 2010
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.030 GeneticVariation disease BEFREE Mutation screening of the ND5 gene is advised for routine diagnostics of patients with OXPHOS disease, especially for those with MELAS- and Leigh-like syndrome with a complex I deficiency. 17400793 2007
Entrez Id: 4540
Gene Symbol: ND5
ND5
0.030 GeneticVariation disease BEFREE Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene. 15767514 2005