Entrez Id: |
4724 |
Gene Symbol: |
NDUFS4 |
NDUFS4
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.910 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.640 |
CausalMutation |
CLINVAR |
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.
|
10080174 |
1999 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.640 |
GeneticVariation |
CLINVAR |
Siblings with leukoencephalopathy.
|
19073330 |
2008 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.640 |
CausalMutation |
CLINVAR |
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
|
26345448 |
2015 |
Entrez Id: |
4723 |
Gene Symbol: |
NDUFV1 |
NDUFV1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.640 |
GeneticVariation |
CLINVAR |
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
|
23562761 |
2013 |
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.620 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4719 |
Gene Symbol: |
NDUFS1 |
NDUFS1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.620 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
80224 |
Gene Symbol: |
NUBPL |
NUBPL
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.610 |
GeneticVariation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Entrez Id: |
4720 |
Gene Symbol: |
NDUFS2 |
NDUFS2
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.610 |
GeneticVariation |
CLINVAR |
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.
|
20819849 |
2010 |
Entrez Id: |
4720 |
Gene Symbol: |
NDUFS2 |
NDUFS2
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.610 |
GeneticVariation |
CLINVAR |
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
|
24215330 |
2013 |
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4709 |
Gene Symbol: |
NDUFB3 |
NDUFB3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
CLINVAR |
|
|
|
Entrez Id: |
55572 |
Gene Symbol: |
FOXRED1 |
FOXRED1
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
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
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
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
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
CLINVAR |
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.
|
16200211 |
2005 |
Entrez Id: |
91942 |
Gene Symbol: |
NDUFAF2 |
NDUFAF2
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.600 |
GeneticVariation |
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
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.400 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
4536 |
Gene Symbol: |
ND2 |
ND2
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.400 |
CausalMutation |
CLINVAR |
|
|
|
Entrez Id: |
51079 |
Gene Symbol: |
NDUFA13 |
NDUFA13
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.100 |
CausalMutation |
CLINVAR |
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.
|
25901006 |
2015 |
SLC25A10
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.100 |
GeneticVariation |
CLINVAR |
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
|
29211846 |
2018 |
Entrez Id: |
4538 |
Gene Symbol: |
ND4 |
ND4
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|