Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 GeneticVariation disease BEFREE Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 GeneticVariation disease CLINVAR Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. 24215330 2013
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 GeneticVariation disease CLINVAR The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 20819849 2010
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 Biomarker disease GENOMICS_ENGLAND Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. 14749350 2004
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 GermlineCausalMutation disease ORPHANET Clinical and molecular findings in children with complex I deficiency. 15576045 2004
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
0.610 Biomarker disease GENOMICS_ENGLAND