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 CausalMutation CLINVAR A map of human genome variation from population-scale sequencing. 20981092

2010
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR A microsphere-based assay for mutation analysis of the biotinidase gene using dried blood spots. 27625817

2012
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR An informatics approach to analyzing the incidentalome. 22995991

2013
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795

2010
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795

2010
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children. 9099842

1997
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. 16435182

2005
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 presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature. 21907891

2011
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 25174816

2014
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 25174816

2014
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 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 Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Biotinidase deficiency: novel mutations in Algerian patients. 23481307

2014
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 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 Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Delayed-onset profound biotinidase deficiency. 9506660

1998
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure. 8894703

1996
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 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 CausalMutation CLINVAR Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency. 19728141

2009