Gene: BTD ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Optic neuropathy due to biotinidase deficiency in a 19-year-old man. 24525934

2014
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014
dbSNP: rs13078881
rs13078881
BTD
C 0.860 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
dbSNP: rs13078881
rs13078881
BTD
C 0.860 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
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR An informatics approach to analyzing the incidentalome. 22995991

2013
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR High incidence of partial biotinidase deficiency cases in newborns of Greek origin. 23644139

2013
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Analysis of mutations causing biotinidase deficiency. 20556795

2010
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR A map of human genome variation from population-scale sequencing. 20981092

2010
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Technical standards and guidelines for the diagnosis of biotinidase deficiency. 20539236

2010
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. 20549359

2010
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. 14628140

2003
dbSNP: rs13078881
rs13078881
BTD
C 0.860 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
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 12227467

2002
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. 11313766

2001
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Novel mutations cause biotinidase deficiency in Turkish children. 10801053

2000
dbSNP: rs13078881
rs13078881
BTD
C 0.860 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
dbSNP: rs13078881
rs13078881
BTD
C 0.860 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
dbSNP: rs13078881
rs13078881
BTD
C 0.860 CausalMutation CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207

1998
dbSNP: rs13078881
rs13078881
BTD
C 0.860 GeneticVariation CLINVAR

dbSNP: rs13073139
rs13073139
BTD
A 0.800 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs80338685
rs80338685
BTD
C 0.800 CausalMutation CLINVAR Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. 28498829

2017
dbSNP: rs80338685
rs80338685
BTD
C 0.800 CausalMutation CLINVAR Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. 27657684

2017
dbSNP: rs80338686
rs80338686
BTD
T 0.800 CausalMutation CLINVAR Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. 27207447

2017