Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
|
27626371 |
2016 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
|
27626371 |
2016 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
|
27626371 |
2016 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
|
27626371 |
2016 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Accessory subunits are integral for assembly and function of human mitochondrial complex I.
|
27626371 |
2016 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.
|
22200994 |
2012 |
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Leigh Syndrome due to Mitochondrial Complex III Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Leigh Syndrome due to Mitochondrial Complex V Deficiency
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
|
21150889 |
2011 |
Mitochondrial Diseases
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Acidosis, Lactic
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|