Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation. 29506883 2018
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases. 28506826 2017
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. 28429146 2017
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders. 25356405 2014
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN Development and characterization of a conditional mitochondrial complex I assembly system. 14722084 2004
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. 15293270 2004
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. 10200266 1999
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.300 Biomarker disease CLINGEN Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. 8938439 1996