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: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CLINGEN Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. 28105683

2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CLINGEN We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. 28322498

2017
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 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: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CLINGEN Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478

2015
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 GermlineCausalMutation ORPHANET A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. 24236502

2014
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 GeneticVariation UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 GermlineCausalMutation ORPHANET Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CLINGEN Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 GermlineCausalMutation ORPHANET Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340

2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 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: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CLINGEN Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340

2007
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 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: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker GENOMICS_ENGLAND Björnstad syndrome in a patient with mental retardation. 9777342

1998
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker GENOMICS_ENGLAND

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker CTD_human

Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.750 Biomarker GENOMICS_ENGLAND