Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. 28671271

2018
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Structure of mammalian respiratory complex I. 27509854

2016
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I. 23223238

2013
Entrez Id: 4704
Gene Symbol: NDUFA9
NDUFA9
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker CLINGEN Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. 22114105

2012