Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease CLINGEN Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. 28105683 2017
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease 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
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease BEFREE Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 28322498 2017
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease BEFREE The TYMS 6bp ins/del and 6bp del/del genotype was associated with low birth weight (LBW) compared to 6bp ins/ins genotype in both term and PTD groups, and in case of very (p=0.024) and moderately (p=0.045) sub-cohorts of PTD significantly. 28627444 2017
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease CLINGEN Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478 2015
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease BEFREE BCS1L is the causative gene of Björnstad syndrome, which is characterized by sensorineural hearing loss and pili torti. 25895478 2015
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GermlineCausalMutation disease ORPHANET A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. 24236502 2014
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease UNIPROT Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GermlineCausalMutation disease ORPHANET Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease CLINGEN Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease BEFREE Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246 2013
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease CLINVAR Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency. 19389488 2009
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease CLINVAR Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GermlineCausalMutation disease ORPHANET Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease BEFREE Functional analyses elucidated how BCS1L mutations cause the Björnstad syndrome. 17314340 2007
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 GeneticVariation disease UNIPROT Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease CLINGEN Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 17314340 2007
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 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
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease GENOMICS_ENGLAND Björnstad syndrome in a patient with mental retardation. 9777342 1998
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 CausalMutation disease CLINVAR
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease CTD_human
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome
0.750 Biomarker disease GENOMICS_ENGLAND