Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.800 | CausalMutation | CLINVAR | Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy. | 26454440 | 2015 |
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A | 0.800 | CausalMutation | CLINVAR | X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. | 21700483 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: adrenoleukodystrophy. | 22071894 | 2012 |
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|
A | 0.800 | CausalMutation | CLINVAR | X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan. | 21068741 | 2011 |
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|
A | 0.800 | CausalMutation | CLINVAR | In the case of X-ALD fibroblasts from an ALD patient (R617H), the mutant ALDP was not detected in the cells, but appeared upon incubation with a proteasome inhibitor. | 17542813 | 2007 |
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|
A | 0.800 | CausalMutation | CLINVAR | Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. | 15800013 | 2005 |
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|
A | 0.800 | CausalMutation | CLINVAR | Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins. | 9425230 | 1998 |
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|
A | 0.800 | CausalMutation | CLINVAR | Mutational analysis of patients with X-linked adrenoleukodystrophy. | 7581394 | 1995 |
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|
A | 0.800 | CausalMutation | CLINVAR | Altered expression of ALDP in X-linked adrenoleukodystrophy. | 7668254 | 1995 |
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|
A | 0.800 | CausalMutation | CLINVAR | Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. | 8040304 | 1994 |