Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 Biomarker disease BEFREE MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). 29331171 2018
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 Biomarker disease GENOMICS_ENGLAND MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). 29331171 2018
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 GeneticVariation disease CLINVAR MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). 29331171 2018
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 GeneticVariation disease CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775 2018
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 CausalMutation disease CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 CausalMutation disease CLINVAR MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. 23929671 2013
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 GeneticVariation disease CLINVAR MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. 23929671 2013
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 CausalMutation disease CLINVAR Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 GeneticVariation disease UNIPROT Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 GermlineCausalMutation disease ORPHANET
Entrez Id: 25821
Gene Symbol: MTO1
MTO1 		0.710 Biomarker disease CTD_human