Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. 28427446 2017
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 21274865 2011
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.300 Biomarker disease CLINGEN Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. 10508156 1999