Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker CLINGEN Here, we present an additional description of a child with Leigh syndrome harboring a homozygous mutation in NDUFA10, providing insights in clinical, biochemical, and neuroradiologic features for future earlier recognition. 28247337

2017
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371

2016
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker CLINGEN Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994

2012
Entrez Id: 4705
Gene Symbol: NDUFA10
NDUFA10
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.510 Biomarker CLINGEN NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. 21150889

2011