| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. | 27329734 | 2016 |
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|
A | 0.710 | CausalMutation | CLINVAR | Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening. | 25754625 | 2015 |
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|
A | 0.710 | CausalMutation | CLINVAR | Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014). | 26361991 | 2015 |
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|
A | 0.710 | CausalMutation | CLINVAR | High incidence of partial biotinidase deficiency cases in newborns of Greek origin. | 23644139 | 2013 |
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|
A | 0.710 | CausalMutation | CLINVAR | Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. | 22698809 | 2012 |
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|
A | 0.710 | CausalMutation | CLINVAR | Profound biotinidase deficiency: a rare disease among native Swedes. | 20224900 | 2010 |
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|
A | 0.710 | CausalMutation | CLINVAR | Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases. | 16435182 | 2005 |
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|
A | 0.710 | CausalMutation | CLINVAR | Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. | 11313766 | 2001 |
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|
A | 0.710 | CausalMutation | CLINVAR | Novel mutations cause biotinidase deficiency in Turkish children. | 10801053 | 2000 |
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|
A | 0.710 | CausalMutation | CLINVAR | Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. | 9396567 | 1997 |