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 Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. 7550325

1995
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 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 Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene. 9158148

1997
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 CausalMutation CLINVAR Profound biotinidase deficiency in two asymptomatic adults. 9375914

1997
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. 9396567

1997
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. 9396567

1997
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 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 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 CausalMutation CLINVAR [Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]. 10394193

1999
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. 10400129

1999
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. 10400129

1999
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Novel mutations cause biotinidase deficiency in Turkish children. 10801053

2000
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 GeneticVariation CLINVAR Novel mutations cause biotinidase deficiency in Turkish children. 10801053

2000
Entrez Id: 686
Gene Symbol: BTD
BTD
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		1.000 CausalMutation CLINVAR Novel mutations in children with profound biotinidase deficiency from Saudi Arabia. 10801060

2000
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 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 Thus far 61 mutations in three of the four exons of the BTD and one mutation in an intron gene that cause profound BTD deficiency have been reported. 11668630

2001
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 CausalMutation CLINVAR Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 12227467

2002
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 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 CausalMutation CLINVAR Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. 12618081

2003