Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GermlineCausalMutation disease ORPHANET VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GermlineCausalMutation disease ORPHANET Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease UNIPROT VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 24827421 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease UNIPROT Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 GeneticVariation disease CLINVAR
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 CausalMutation disease CLINVAR
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 Biomarker disease CTD_human