|
| Entrez Id: |
1352 |
| Gene Symbol: |
COX10 |
COX10
|
0.300 |
Biomarker
|
disease |
CLINGEN |
COX10 codes for a protein homologous to the ORF1 product of Paracoccus denitrificans and is required for the synthesis of yeast cytochrome oxidase.
|
2167310 |
1990 |
|
| Entrez Id: |
4719 |
| Gene Symbol: |
NDUFS1 |
NDUFS1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
|
1935949 |
1991 |
|
| Entrez Id: |
6389 |
| Gene Symbol: |
SDHA |
SDHA
|
0.300 |
Biomarker
|
disease |
CLINGEN |
SDH1, the gene encoding the succinate dehydrogenase flavoprotein subunit from Saccharomyces cerevisiae.
|
1511876 |
1992 |
|
| Entrez Id: |
4719 |
| Gene Symbol: |
NDUFS1 |
NDUFS1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
IpaB of Shigella flexneri causes entry into epithelial cells and escape from the phagocytic vacuole.
|
1582426 |
1992 |
|
| Entrez Id: |
5160 |
| Gene Symbol: |
PDHA1 |
PDHA1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Molecular genetic characterization of an X-linked form of Leigh's syndrome.
|
8498846 |
1993 |
|
| Entrez Id: |
6389 |
| Gene Symbol: |
SDHA |
SDHA
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
|
7550341 |
1995 |
|
| Entrez Id: |
100131801 |
| Gene Symbol: |
PET100 |
PET100
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Cloning and characterization of PET100, a gene required for the assembly of yeast cytochrome c oxidase.
|
8702496 |
1996 |
|
| Entrez Id: |
5160 |
| Gene Symbol: |
PDHA1 |
PDHA1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
|
8664900 |
1996 |
|
| Entrez Id: |
4694 |
| Gene Symbol: |
NDUFA1 |
NDUFA1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.
|
8938439 |
1996 |
|
| Entrez Id: |
5160 |
| Gene Symbol: |
PDHA1 |
PDHA1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
|
9187674 |
1997 |
|
| Entrez Id: |
8802 |
| Gene Symbol: |
SUCLG1 |
SUCLG1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
The molecular basis for cross-reaction of an anti-dystrophin antibody with alpha-actinin.
|
9128182 |
1997 |
|
| Entrez Id: |
4722 |
| Gene Symbol: |
NDUFS3 |
NDUFS3
|
0.300 |
Biomarker
|
disease |
CLINGEN |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
9878551 |
1998 |
|
| Entrez Id: |
4719 |
| Gene Symbol: |
NDUFS1 |
NDUFS1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
9878551 |
1998 |
|
| Entrez Id: |
4728 |
| Gene Symbol: |
NDUFS8 |
NDUFS8
|
0.300 |
Biomarker
|
disease |
CLINGEN |
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.
|
9837812 |
1998 |
|
| Entrez Id: |
4695 |
| Gene Symbol: |
NDUFA2 |
NDUFA2
|
0.300 |
Biomarker
|
disease |
CLINGEN |
cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
|
9878551 |
1998 |
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
|
9837813 |
1998 |
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
|
9843204 |
1998 |
|
| Entrez Id: |
6389 |
| Gene Symbol: |
SDHA |
SDHA
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Suppression of sdh1 mutations by the SDH1b gene of Saccharomyces cerevisiae.
|
9730279 |
1998 |
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
|
10545952 |
1999 |
|
| Entrez Id: |
617 |
| Gene Symbol: |
BCS1L |
BCS1L
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.
|
10508156 |
1999 |
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.
|
10443880 |
1999 |
|
| Entrez Id: |
374291 |
| Gene Symbol: |
NDUFS7 |
NDUFS7
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
|
10360771 |
1999 |
|
| Entrez Id: |
4694 |
| Gene Symbol: |
NDUFA1 |
NDUFA1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria.
|
10200266 |
1999 |
|
| Entrez Id: |
6834 |
| Gene Symbol: |
SURF1 |
SURF1
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
|
10556302 |
1999 |
|
| Entrez Id: |
6389 |
| Gene Symbol: |
SDHA |
SDHA
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.
|
10746566 |
2000 |