Gene: BTD ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. 29353266 2018
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. 29359854 2018
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Herein, for the first time, we reported the clinical features, BTD gene mutations and their functional studies of eight symptomatic children with BTD deficiency from southern China. 29359854 2018
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. 27207447 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Neonatal screening for biotinidase deficiency: A 30-year single center experience. 28971021 2017
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates. 26334177 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 26589311 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. 27329734 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 27629047 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. 27329734 2016
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 26361991 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. 25144890 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, Brazil. 25967232 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. 25144890 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Mutations in BTD gene causing biotinidase deficiency: a regional report. 25423671 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Mutations in BTD gene causing biotinidase deficiency: a regional report. 25423671 2015
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 26361991 2015