Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 GeneticVariation disease BEFREE Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. 28857146 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. 28857146 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Whole exome sequencing in patients with white matter abnormalities. 27159321 2016
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Protein carbonylation and adipocyte mitochondrial function. 22822087 2012
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Region-specific expression of mitochondrial complex I genes during murine brain development. 21556144 2011
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease GENOMICS_ENGLAND NDUFA2 complex I mutation leads to Leigh disease. 18513682 2008
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN NDUFA2 complex I mutation leads to Leigh disease. 18513682 2008
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 GeneticVariation disease BEFREE NDUFA2 complex I mutation leads to Leigh disease. 18513682 2008
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. 17209039 2007
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease CLINGEN cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. 9878551 1998
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2
0.520 Biomarker disease GENOMICS_ENGLAND