Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4728
Gene Symbol: NDUFS8
NDUFS8 		0.300 Biomarker disease CLINGEN "NDUFS8-related Complex I Deficiency Extends Phenotype from ""PEO Plus"" to Leigh Syndrome." 23430795 2013
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: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome. 22326555 2012
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		0.300 Biomarker disease CLINGEN A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 24462369 2014
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.300 Biomarker disease CLINGEN A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy. 24952175 2014
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.300 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: 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: 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: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.300 Biomarker disease CLINGEN A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. 23010432 2012
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1 		0.300 Biomarker disease CLINGEN A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 19526370 2010
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. 20159436 2010
Entrez Id: 54902
Gene Symbol: TTC19
TTC19 		0.300 Biomarker disease CLINGEN A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions. 25452764 2014
Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7 		0.300 Biomarker disease CLINGEN A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. 17604671 2007
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: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.300 Biomarker disease CLINGEN A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population. 27671926 2017
Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1 		0.300 Biomarker disease CLINGEN A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. 21696386 2012
Entrez Id: 100131801
Gene Symbol: PET100
PET100 		0.300 Biomarker disease CLINGEN A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. 25293719 2015
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: 4705
Gene Symbol: NDUFA10
NDUFA10 		0.300 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
Entrez Id: 4695
Gene Symbol: NDUFA2
NDUFA2 		0.300 Biomarker disease CLINGEN Accessory subunits are integral for assembly and function of human mitochondrial complex I. 27626371 2016
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.300 Biomarker disease CLINGEN An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases. 28506826 2017
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		0.300 Biomarker disease CLINGEN Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2. 19837698 2010
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.300 Biomarker disease CLINGEN Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. 10508156 1999
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		0.300 Biomarker disease CLINGEN Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. 9187674 1997