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 Disease variants in genomes of 44 centenarians. 25333069

2014
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. 10206677

1998
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 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 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 Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. 11865279

2002
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 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 CausalMutation 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 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 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 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 High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. 19757147

2009
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. 19757147

2009
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Identification of alternatively spliced human biotinidase mRNAs and putative localization of endogenous biotinidase. 15059618

2004
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 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 GeneticVariation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
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 Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. 11313766

2001
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. 9232193

1997
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