Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1 		0.620 GeneticVariation disease CLINVAR
Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL 		0.610 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.610 GeneticVariation disease CLINVAR The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 20819849 2010
Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2 		0.610 GeneticVariation disease CLINVAR Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. 24215330 2013
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3 		0.600 GeneticVariation disease CLINVAR
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.600 CausalMutation disease CLINVAR
Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3 		0.600 GeneticVariation disease CLINVAR
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1 		0.600 GeneticVariation disease CLINVAR Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994 2012
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		0.600 GeneticVariation disease CLINVAR Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760 2012
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 GeneticVariation disease CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211 2005
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2 		0.600 GeneticVariation disease CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11 		0.400 CausalMutation disease CLINVAR
Entrez Id: 4536
Gene Symbol: ND2
ND2 		0.400 CausalMutation disease CLINVAR
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: 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: 4538
Gene Symbol: ND4
ND4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease CTD_human
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 Biomarker disease MGD NDUFS4: creation of a mouse model mimicking a Complex I disorder. 19460290 2009
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6 		0.710 Biomarker disease MGD Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. 22474353 2012
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1 		0.700 Biomarker disease MGD 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: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Biomarker disease MGD The harlequin mouse mutation downregulates apoptosis-inducing factor. 12353028 2002
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: 4724
Gene Symbol: NDUFS4
NDUFS4 		0.910 GermlineCausalMutation disease ORPHANET Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. 22644603 2012