| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. | 27067449 | 2016 |
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|
T | 0.800 | CausalMutation | CLINVAR | X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. | 24480483 | 2014 |
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|
T | 0.800 | CausalMutation | CLINVAR | Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation. | 24788897 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: adrenoleukodystrophy. | 22071894 | 2012 |
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|
T | 0.800 | CausalMutation | CLINVAR | X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. | 15811009 | 2005 |
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|
T | 0.800 | CausalMutation | CLINVAR | ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. | 11748843 | 2001 |
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|
T | 0.800 | CausalMutation | CLINVAR | Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. | 10737980 | 2000 |
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|
T | 0.800 | CausalMutation | CLINVAR | Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations. | 10980539 | 2000 |
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|
T | 0.800 | CausalMutation | CLINVAR | Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings. | 9242200 | 1997 |