| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. | 27207447 | 2017 |
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|
T | 0.800 | CausalMutation | CLINVAR | Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. | 27657684 | 2017 |
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|
A | 0.800 | CausalMutation | CLINVAR | Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease. | 27207447 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Forty-eight novel mutations causing biotinidase deficiency. | 26810761 | 2016 |
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|
A | 0.800 | CausalMutation | CLINVAR | Forty-eight novel mutations causing biotinidase deficiency. | 26810761 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. | 22698809 | 2012 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. | 22698809 | 2012 |
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|
A | 0.800 | CausalMutation | CLINVAR | Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. | 22698809 | 2012 |
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|
A | 0.800 | 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 |
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|
T | 0.800 | 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 |
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|
T | 0.800 | CausalMutation | CLINVAR | Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. | 9396567 | 1997 |