Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		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
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		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
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		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
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 GeneticVariation disease CLINVAR Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. 29440775 2018
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 CausalMutation disease CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		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
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		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
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 Biomarker disease GENOMICS_ENGLAND Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 CausalMutation disease CLINVAR Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 GeneticVariation disease UNIPROT Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 22608499 2012
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C3553529
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 		0.710 Biomarker disease CTD_human