Gene: BCS1L ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 Biomarker disease CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 25914718 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478 2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 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 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene. 19508421 2009
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 19389488 2009
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 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 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. 9878253 1998
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 Biomarker disease GENOMICS_ENGLAND Björnstad syndrome in a patient with mental retardation. 9777342 1998
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 Biomarker disease CTD_human