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 The nitrilase superfamily: classification, structure and function. 11380987 2001
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795 2010
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 Hearing loss in biotinidase deficiency: genotype-phenotype correlation. 17382128 2007
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Seventeen novel mutations that cause profound biotinidase deficiency. 12359137 2003
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412 2005
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease 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 		1.000 CausalMutation disease 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 		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 CausalMutation disease CLINVAR Profound biotinidase deficiency in a child with predominantly spinal cord disease. 18645204 2008
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. 14707518 2003
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease CLINVAR High incidence of partial biotinidase deficiency cases in newborns of Greek origin. 23644139 2013
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412 2005
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 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 		1.000 GeneticVariation disease 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 		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 High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. 20549359 2010
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 GeneticVariation disease 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 		1.000 CausalMutation disease CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207 1998
Entrez Id: 686
Gene Symbol: BTD
BTD 		1.000 CausalMutation disease CLINVAR Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary. 17185019 2007
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 CausalMutation disease 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 		1.000 GeneticVariation disease CLINVAR Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients. 25174816 2014