rs150667550, NDUFS2

N. diseases: 2
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 GeneticVariation CLINVAR Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. 24215330 2013
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 GeneticVariation CLINVAR The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 20819849 2010