Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51204
Gene Symbol: TACO1
TACO1 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 1327
Gene Symbol: COX4I1
COX4I1 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker group GENOMICS_ENGLAND
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1 		0.200 Biomarker group MGD
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		0.180 CausalMutation group CLINVAR
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		0.140 CausalMutation group CLINVAR
Entrez Id: 4513
Gene Symbol: COX2
COX2 		0.120 CausalMutation group CLINVAR
Entrez Id: 4566
Gene Symbol: TRNK
TRNK 		0.120 CausalMutation group CLINVAR
Entrez Id: 91689
Gene Symbol: SMDT1
SMDT1 		0.100 CausalMutation group CLINVAR
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.100 CausalMutation group CLINVAR
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6 		0.100 CausalMutation group CLINVAR
Entrez Id: 4540
Gene Symbol: ND5
ND5 		0.100 GeneticVariation group CLINVAR
Entrez Id: 4538
Gene Symbol: ND4
ND4 		0.100 GeneticVariation group CLINVAR
Entrez Id: 4556
Gene Symbol: TRNE
TRNE 		0.100 CausalMutation group CLINVAR
Entrez Id: 4568
Gene Symbol: TRNL2
TRNL2 		0.100 CausalMutation group CLINVAR
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		0.100 GeneticVariation group CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.500 GeneticVariation group BEFREE (1) Mitochondrial disorders(2) are a well-recognized cause; however, to our knowledge this is the first time that such extensive intracranial calcium deposits have been described in a patient with a POLG1 mutation. 23836942 2013
Entrez Id: 1020
Gene Symbol: CDK5
CDK5 		0.010 Biomarker group BEFREE (2015) show that Cdk5 regulatory subunit-associated protein-like-1 synchronizes mitochondrial and cytosolic translation in response to external stress, providing key insight into the pathogenesis of a common inherited mitochondrial disease. 25738451 2015
Entrez Id: 4535
Gene Symbol: ND1
ND1 		0.020 GeneticVariation group BEFREE 3697G>A in MT-ND1 is a causative mutation in mitochondrial disease. 27017994 2016
Entrez Id: 5018
Gene Symbol: OXA1L
OXA1L 		0.100 CausalMutation group CLINVAR OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. 30201738 2018
Entrez Id: 4345
Gene Symbol: CD200
CD200 		0.010 GeneticVariation group BEFREE Mitochondrial disorders with multiple mitochondrial respiratory chain (MRC) enzyme deficiency and depletion of mitochondrial DNA (mtDNA) are autosomal recessive conditions due to mutations in several nuclear genes necessary for proper mtDNA maintenance. 23010432 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		0.500 GeneticVariation group BEFREE Mitochondrial disorder was clinically suspected and a homozygous c.2243G>C mutation (p.Trp748Ser) was discovered in the POLG1 gene. 23248042 2012