Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. 20978941 2010
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. 18593870 2008
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. 19136963 2009
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome. 28753212 2017
Entrez Id: 23474
Gene Symbol: ETHE1
ETHE1 		0.300 Biomarker disease CLINGEN Successful treatment of a patient with ethylmalonic encephalopathy by intravenous N-acetylcysteine. 27830356 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN New insights into the phenotype of FARS2 deficiency. 29126765 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. 27549011 2016
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		0.300 Biomarker disease CLINGEN Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821 2016
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN FOXRED1 silencing in mice: a possible animal model for Leigh syndrome. 30392038 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency. 31065540 2019
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. 27215383 2016
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. 25678554 2015
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.300 Biomarker disease CLINGEN FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 26022995 2015
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Infantile Progressive Hepatoencephalomyopathy with Combined OXPHOS Deficiency due to Mutations in the Mitochondrial Translation Elongation Factor Gene GFM1. 23430926 2012
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. 25852744 2015
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN The Human Protein Atlas--a tool for pathology. 18853439 2008
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. 17160893 2007
Entrez Id: 85476
Gene Symbol: GFM1
GFM1 		0.300 Biomarker disease CLINGEN The Drosophila mitochondrial translation elongation factor G1 contains a nuclear localization signal and inhibits growth and DPP signaling. 21364917 2011
Entrez Id: 84340
Gene Symbol: GFM2
GFM2 		0.300 Biomarker disease CLINGEN Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. 29075935 2017