Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. 22698809

2012
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Profound biotinidase deficiency: a rare disease among native Swedes. 20224900

2010
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. 15776412

2005
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies. 14707518

2003
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. 12227467

2002
dbSNP: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Novel mutations cause biotinidase deficiency in Turkish children. 10801053

2000
dbSNP: rs104893688
rs104893688
BTD
T 0.800 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: rs104893688
rs104893688
BTD
T 0.800 CausalMutation CLINVAR Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. 9654207

1998