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 The nitrilase superfamily: classification, structure and function. 11380987

2001
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population. 22106832

2012
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 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 Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 17382128

2007
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Seventeen novel mutations that cause profound biotinidase deficiency. 12359137

2003
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 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 Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. 14628140

2003
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 CausalMutation CLINVAR Profound biotinidase deficiency in a child with predominantly spinal cord disease. 18645204

2008
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. 14707518

2003
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR High incidence of partial biotinidase deficiency cases in newborns of Greek origin. 23644139

2013
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 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 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753

2014
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 High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. 20549359

2010
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. 24932929

2014
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207

1998
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. 17185019

2007
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 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 GeneticVariation CLINVAR Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 25174816

2014