Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. 28427446 2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 21274865 2011
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 Biomarker disease CLINGEN Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. 10508156 1999
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.400 CausalMutation disease CLINVAR
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
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: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia. 30090137 2019
Entrez Id: 55037
Gene Symbol: PTCD3
PTCD3 		0.300 Biomarker disease CLINGEN Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. 30607703 2019
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CLINGEN SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype. 29601977 2018
Entrez Id: 79731
Gene Symbol: NARS2
NARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN Glial lipid droplets and neurodegeneration in a Drosophila model of complex I deficiency. 29285794 2018
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.300 Biomarker disease CLINGEN A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD. 30429455 2018
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.300 Biomarker disease CLINGEN Novel Homozygous Variant in TTC19 Causing Mitochondrial Complex III Deficiency with Recurrent Stroke-Like Episodes: Expanding the Phenotype. 29961508 2018
Entrez Id: 6834
Gene Symbol: SURF1
SURF1 		0.300 Biomarker disease CLINGEN SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. 29933018 2018
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. 28857146 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		0.300 Biomarker disease CLINGEN Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. 30041933 2018
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		0.300 Biomarker disease CLINGEN Mitochondrial DNA transcription and translation: clinical syndromes. 29980628 2018
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 29976978 2018
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 29217198 2018