Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation UNIPROT Clinical and biochemical features associated with BCS1L mutation. 22991165

2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340

2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation UNIPROT Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. 17403714

2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 GeneticVariation 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker 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
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker GENOMICS_ENGLAND Björnstad syndrome in a patient with mental retardation. 9777342

1998
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker CTD_human

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 54902
Gene Symbol: TTC19
TTC19
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.300 Biomarker GENOMICS_ENGLAND