| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. | 26156051 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. | 24627108 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. | 23212406 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. | 21645175 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D. | 17697869 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. | 16278884 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Structure-function analysis of CYP27B1 and CYP27A1. Studies on mutants from patients with vitamin D-dependent rickets type I (VDDR-I) and cerebrotendinous xanthomatosis (CTX). | 11737215 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. | 10775536 | 2000 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin. | 8014582 | 1994 |
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|
T | 0.700 | GeneticVariation | CLINVAR |