Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. 27207447

2017
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Neonatal screening for biotinidase deficiency: A 30-year single center experience. 28971021

2017
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Forty-eight novel mutations causing biotinidase deficiency. 26810761

2016
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. 27329734

2016
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. 27329734

2016
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625

2015
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation 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
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. 25754625

2015
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Mutations in BTD gene causing biotinidase deficiency: a regional report. 25423671

2015
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Mutations in BTD gene causing biotinidase deficiency: a regional report. 25423671

2015
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). 26361991

2015