Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.800 GeneticVariation UNIPROT Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. 19259137

2010

Entrez Id: 4726
Gene Symbol: NDUFS6
NDUFS6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.800 GeneticVariation UNIPROT NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. 15372108

2004

Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. 27091925

2017

Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. 25678554

2015

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern. 23553477

2013

Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 20858599

2011

Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

Entrez Id: 80224
Gene Symbol: NUBPL
NUBPL
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981

2009

Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT C6ORF66 is an assembly factor of mitochondrial complex I. 18179882

2008

Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 18940309

2008

Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007

Entrez Id: 4720
Gene Symbol: NDUFS2
NDUFS2
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 11220739

2001

Entrez Id: 4723
Gene Symbol: NDUFV1
NDUFV1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001

Entrez Id: 4719
Gene Symbol: NDUFS1
NDUFS1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.600 GeneticVariation UNIPROT Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001

Entrez Id: 4535
Gene Symbol: ND1
ND1
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.500 GeneticVariation UNIPROT Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome. 24105702

2014

Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.500 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

Entrez Id: 4537
Gene Symbol: ND3
ND3
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.500 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004

Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.500 GeneticVariation UNIPROT Human mitochondrial complex I in health and disease. 10330338

1999

Entrez Id: 374291
Gene Symbol: NDUFS7
NDUFS7
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.500 GeneticVariation UNIPROT Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 10360771

1999

Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 22019594

2012

Entrez Id: 4540
Gene Symbol: ND5
ND5
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.300 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010