Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CLINGEN Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 16798039 2006
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for Engrailed1. 17267560 2007
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. 17604671 2007
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. 17668387 2007
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. 17287286 2007
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. 17209039 2007
Entrez Id: 1352
Gene Symbol: COX10
COX10 		0.300 Biomarker disease CLINGEN Cytochrome c oxidase deficiency in neurons decreases both oxidative stress and amyloid formation in a mouse model of Alzheimer's disease. 17715058 2007
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: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
Entrez Id: 27089
Gene Symbol: UQCRQ
UQCRQ 		0.300 Biomarker disease CLINGEN Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. 18439546 2008
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN NDUFA2 complex I mutation leads to Leigh disease. 18513682 2008
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Phenotypic consequences of a novel SCO2 gene mutation. 18924171 2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death. 18485875 2008
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870 2008
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. 18396137 2008
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. 18826940 2008
Entrez Id: 10128
Gene Symbol: LRPPRC
LRPPRC 		0.300 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.300 Biomarker disease CLINGEN PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. 19924563 2009
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.300 Biomarker disease CLINGEN SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 19465911 2009