| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. | 28623566 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom]. | 27455001 | 2016 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. | 26519892 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy. | 23659550 | 2014 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D. | 17697869 | 2007 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. | 11181744 | 2001 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. | 10775536 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. | 10775536 | 2000 |
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|
A | 0.700 | CausalMutation | CLINVAR | Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. | 10430841 | 1999 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. | 8730343 | 1996 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. | 8730343 | 1996 |