Disease: Combined Oxidative Phosphorylation Deficiency 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 GeneticVariation disease BEFREE To date, only four patients have been reported with bi-allelic mutations in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis and progressive fatal infantile encephalopathy. 30903008 2019
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease GENOMICS_ENGLAND Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation. 28132884 2017
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease GENOMICS_ENGLAND A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 GermlineCausalMutation disease ORPHANET Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease GENOMICS_ENGLAND Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 GeneticVariation disease UNIPROT Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease GENOMICS_ENGLAND Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 Biomarker disease CTD_human
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 CausalMutation disease CLINVAR
CUI: C1857682
Disease: Combined Oxidative Phosphorylation Deficiency 4
Combined Oxidative Phosphorylation Deficiency 4 		0.710 GeneticVariation disease CLINVAR