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 GeneticVariation disease CLINVAR Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. 27959697 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 GeneticVariation disease UNIPROT Clinical and biochemical features associated with BCS1L mutation. 22991165 2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR 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 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. 18628306 2008
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 GeneticVariation disease UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 GeneticVariation disease UNIPROT Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714 2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 GeneticVariation disease UNIPROT Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 12910490 2003
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 CausalMutation disease CLINVAR GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 12215968 2002
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L 		0.700 GeneticVariation disease UNIPROT 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 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