Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Late-Onset Leigh Syndrome due to NDUFV1 Mutation in a 10-Year-Old Boy Initially Presenting with Ataxia. 30090137 2019
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN A Drosophila Mitochondrial Complex I Deficiency Phenotype Array. 30972103 2019
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. 29976978 2018
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. 27344648 2017
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Structure of mammalian respiratory complex I. 27509854 2016
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. 23334465 2013
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2. 23266820 2013
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome. 21696386 2012
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans. 19672299 2009
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		0.300 Biomarker disease CLINGEN Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233 2001