Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 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
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 Biomarker disease CLINGEN The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 21274865 2011
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 Biomarker disease CLINGEN Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient. 19162478 2009
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 Biomarker disease CLINGEN A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 11528392 2001
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 Biomarker disease CLINGEN Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex. 10508156 1999
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
0.400 CausalMutation disease CLINVAR