Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.500 | Biomarker | disease | CLINGEN | Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. | 29285794 | 2018 | ||||
|
0.500 | Biomarker | disease | CLINGEN | Structure of mammalian respiratory complex I. | 27509854 | 2016 | ||||
|
0.500 | Biomarker | disease | GENOMICS_ENGLAND | A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. | 25655951 | 2015 | ||||
|
0.500 | Biomarker | disease | CLINGEN | "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." | 23430795 | 2013 | ||||
|
0.500 | Biomarker | disease | CLINGEN | Understanding mitochondrial complex I assembly in health and disease. | 21924235 | 2012 | ||||
|
0.500 | Biomarker | disease | CLINGEN | Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. | 22200994 | 2012 | ||||
|
0.500 | Biomarker | disease | CLINGEN | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. | 20818383 | 2010 | ||||
|
0.500 | Biomarker | disease | CLINGEN | Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. | 19672299 | 2009 | ||||
|
0.500 | Biomarker | disease | CLINGEN | Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. | 15159508 | 2004 | ||||
|
0.500 | Biomarker | disease | CLINGEN | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. | 9837812 | 1998 | ||||
|
0.500 | Biomarker | disease | GENOMICS_ENGLAND | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. | 9837812 | 1998 |