Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.420 GeneticVariation disease BEFREE However, patients carrying the m.3243A>G mutation in the mitochondrial tRNA leucine 1 (MT-TL1) do not always meet all the proposed criteria for the most frequently encountered mitochondrial syndrome "MELAS," an acronym for Mitochondrial Encephalomyopathy, Lactic Acidosis, and at least one Stroke-like episode. 30133155 2018
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.420 GeneticVariation disease BEFREE The 3243A>G mutation in the MTTL1 (tRNA(Leu)) gene and the 8344A>G mutation in the MTTK (tRNA(Lys)) gene are the most common mutations found in mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes and myoclonic epilepsy associated with ragged-red fibers, respectively. 16645216 2006
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.420 Biomarker disease CTD_human Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. 17018649 2006
Entrez Id: 4567
Gene Symbol: TRNL1
TRNL1 		0.420 CausalMutation disease CLINVAR
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CTD_human COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux. 23345593 2013
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CTD_human FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 20858599 2010
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65 		0.300 Biomarker disease CTD_human Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. 20598281 2010
Entrez Id: 54968
Gene Symbol: TMEM70
TMEM70 		0.300 Biomarker disease CTD_human TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 18953340 2008
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L 		0.300 Biomarker disease CTD_human A lethal defect of mitochondrial and peroxisomal fission. 17460227 2007
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CTD_human Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 16326995 2006
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2 		0.300 Biomarker disease CTD_human Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.300 Biomarker disease CTD_human Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		0.110 GeneticVariation disease BEFREE FBXL4 mutations are a recurrent cause of mitochondrial encephalomyopathy onset in early infancy. 23993194 2013
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		0.110 GeneticVariation disease BEFREE Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. 11047755 2000
Entrez Id: 4519
Gene Symbol: CYTB
CYTB 		0.110 CausalMutation disease CLINVAR
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		0.100 CausalMutation disease CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		0.100 CausalMutation disease CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011
Entrez Id: 4573
Gene Symbol: TRNR
TRNR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 56947
Gene Symbol: MFF
MFF 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4578
Gene Symbol: TRNW
TRNW 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.030 Biomarker disease BEFREE The data demonstrate allotopic RNA expression of mitochondrial targeted wild type ATP6 coding RNAs are sufficient to partially rescue a severe and established animal model of ME but only when combined with a method to inhibit mutant protein expression, which likely competes for incorporation into complex V. 29908326 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.030 GeneticVariation disease BEFREE The missense mutation (m.8914C>T) in ATP6 gene could result in abnormal function of complexV and is related with mitochondrial encephalomyopathy. 30273650 2018