|
| Entrez Id: |
4700 |
| Gene Symbol: |
NDUFA6 |
NDUFA6
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
|
30245030 |
2018 |
|
| Entrez Id: |
54539 |
| Gene Symbol: |
NDUFB11 |
NDUFB11
|
0.400 |
GeneticVariation
|
disease |
ORPHANET |
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
|
26741492 |
2016 |
|
| Entrez Id: |
4536 |
| Gene Symbol: |
ND2 |
ND2
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance.
|
15781840 |
2005 |
|
| Entrez Id: |
4536 |
| Gene Symbol: |
ND2 |
ND2
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Paternal inheritance of mitochondrial DNA.
|
12192017 |
2002 |
|
| 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: |
29078 |
| Gene Symbol: |
NDUFAF4 |
NDUFAF4
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
4729 |
| Gene Symbol: |
NDUFV2 |
NDUFV2
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
25915 |
| Gene Symbol: |
NDUFAF3 |
NDUFAF3
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
126328 |
| Gene Symbol: |
NDUFA11 |
NDUFA11
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
51103 |
| Gene Symbol: |
NDUFAF1 |
NDUFAF1
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
| Entrez Id: |
4729 |
| Gene Symbol: |
NDUFV2 |
NDUFV2
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.
|
26008862 |
2015 |
|
| Entrez Id: |
126328 |
| Gene Symbol: |
NDUFA11 |
NDUFA11
|
0.500 |
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 |
|
| Entrez Id: |
29078 |
| Gene Symbol: |
NDUFAF4 |
NDUFAF4
|
0.500 |
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 |
|
| Entrez Id: |
4728 |
| Gene Symbol: |
NDUFS8 |
NDUFS8
|
0.500 |
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 |
|
| Entrez Id: |
4729 |
| Gene Symbol: |
NDUFV2 |
NDUFV2
|
0.500 |
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 |
|
| Entrez Id: |
374291 |
| Gene Symbol: |
NDUFS7 |
NDUFS7
|
0.500 |
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 |
|
| Entrez Id: |
4728 |
| Gene Symbol: |
NDUFS8 |
NDUFS8
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
|
| Entrez Id: |
25915 |
| Gene Symbol: |
NDUFAF3 |
NDUFAF3
|
0.500 |
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 |
|
| Entrez Id: |
4715 |
| Gene Symbol: |
NDUFB9 |
NDUFB9
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
|
| Entrez Id: |
4715 |
| Gene Symbol: |
NDUFB9 |
NDUFB9
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
|
| Entrez Id: |
25915 |
| Gene Symbol: |
NDUFAF3 |
NDUFAF3
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
|
19463981 |
2009 |
|
| Entrez Id: |
25915 |
| Gene Symbol: |
NDUFAF3 |
NDUFAF3
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
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
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
C6ORF66 is an assembly factor of mitochondrial complex I.
|
18179882 |
2008 |
|
| Entrez Id: |
126328 |
| Gene Symbol: |
NDUFA11 |
NDUFA11
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
|
18306244 |
2008 |