Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6 		0.010 GeneticVariation disease BEFREE Biallelic mutations in NDUFAF6 have been identified as responsible for cases of autosomal recessive Leigh syndrome associated with mitochondrial complex I deficiency. 29531337 2018
Entrez Id: 342184
Gene Symbol: FMN1
FMN1 		0.010 GeneticVariation disease BEFREE Mapping the variants on published crystal structures of mitochondrial complex I demonstrate that the novel c.1118T > C (p.(Phe373Ser)) variant is predicted to diminish the affinity of the active pocket of NDUFV1 for FMN that correlates to an early onset of debilitating MCID symptoms. 29976978 2018
Entrez Id: 23410
Gene Symbol: SIRT3
SIRT3 		0.010 Biomarker disease BEFREE Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. 27126960 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.010 GeneticVariation disease BEFREE A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 25418441 2015
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1 		0.010 GeneticVariation disease BEFREE Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K). 19089472 2009
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1 		0.020 Biomarker disease BEFREE Corrigendum: Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. 29285026 2017
Entrez Id: 6198
Gene Symbol: RPS6KB1
RPS6KB1 		0.020 Biomarker disease BEFREE Hepatic S6K1 Partially Regulates Lifespan of Mice with Mitochondrial Complex I Deficiency. 28919908 2017
Entrez Id: 1468
Gene Symbol: SLC25A10
SLC25A10 		0.100 GeneticVariation disease CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846 2018
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13 		0.100 CausalMutation disease CLINVAR Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006 2015
Entrez Id: 4538
Gene Symbol: ND4
ND4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Biomarker disease MGD We showed previously that the Harlequin mouse phenotype was due to a specific mitochondrial complex I deficiency resulting from the loss of the Apoptosis Inducing Factor (Aif) protein. 18791645 2008
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Biomarker disease MGD Apoptosis-inducing factor is a key factor in neuronal cell death propagated by BAX-dependent and BAX-independent mechanisms. 15703386 2005
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Biomarker disease MGD Downregulation of apoptosis-inducing factor in harlequin mutant mice sensitizes the myocardium to oxidative stress-related cell death and pressure overload-induced decompensation. 15933268 2005
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Biomarker disease MGD The harlequin mouse mutation downregulates apoptosis-inducing factor. 12353028 2002
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. 28040730 2017
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1 		0.300 GermlineCausalMutation disease ORPHANET Genetic diagnosis of Mendelian disorders via RNA sequencing. 28604674 2017
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		0.300 GermlineCausalMutation disease ORPHANET Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		0.300 Biomarker disease GENOMICS_ENGLAND A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. 27769300 2016
Entrez Id: 55863
Gene Symbol: TMEM126B
TMEM126B 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016
Entrez Id: 4535
Gene Symbol: ND1
ND1 		0.300 GermlineCausalMutation disease ORPHANET Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. 16492986 2006
Entrez Id: 4537
Gene Symbol: ND3
ND3 		0.300 GermlineCausalMutation disease ORPHANET De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112 2004
Entrez Id: 4535
Gene Symbol: ND1
ND1 		0.300 GermlineCausalMutation disease ORPHANET Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. 10775530 2000
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		0.310 GeneticVariation disease BEFREE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8 		0.310 Biomarker disease GENOMICS_ENGLAND NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6 		0.310 GeneticVariation disease BEFREE Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018