GFM1, G elongation factor mitochondrial 1, 85476

N. diseases: 74; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GermlineCausalMutation disease ORPHANET Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. 23430926 2012
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GeneticVariation disease UNIPROT Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. 21119709 2011
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle. 21119709 2011
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 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: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GeneticVariation disease UNIPROT Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GeneticVariation disease UNIPROT Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. 15537906 2004
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 CausalMutation disease CLINVAR
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 GeneticVariation disease CLINVAR
CUI: C1836797
Disease: Combined Oxidative Phosphorylation Deficiency 1
Combined Oxidative Phosphorylation Deficiency 1 		0.700 Biomarker disease CTD_human
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. 25852744 2015
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. 23430926 2012
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN The Drosophila mitochondrial translation elongation factor G1 contains a nuclear localization signal and inhibits growth and DPP signaling. 21364917 2011
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 GeneticVariation disease BEFREE The EFG1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria. 17160893 2007
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.310 Biomarker disease CLINGEN The EFG1-mutant patient had early-onset Leigh syndrome, whereas the EFTu-mutant patient had severe infantile macrocystic leukodystrophy with micropolygyria. 17160893 2007
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017