Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.300 | Biomarker | disease | CLINGEN | Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation. | 29506883 | 2018 | ||||
|
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 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients. | 28429146 | 2017 | ||||
|
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 | ||||
|
0.300 | Biomarker | disease | CLINGEN | New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders. | 25356405 | 2014 | ||||
|
0.300 | Biomarker | disease | CLINGEN | X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. | 17262856 | 2007 | ||||
|
0.300 | Biomarker | disease | CLINGEN | Development and characterization of a conditional mitochondrial complex I assembly system. | 14722084 | 2004 | ||||
|
0.300 | Biomarker | disease | CLINGEN | SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I. | 15293270 | 2004 | ||||
|
0.300 | Biomarker | disease | CLINGEN | The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. | 10200266 | 1999 | ||||
|
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 |