| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. | 8566952 | 1996 |
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|
0.800 | GeneticVariation | UNIPROT | Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. | 11810273 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: adrenoleukodystrophy. | 22071894 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy. | 15643618 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). | 7849723 | 1994 |
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|
0.800 | GeneticVariation | UNIPROT | Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. | 26686776 | 2016 |
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|
A | 0.800 | CausalMutation | CLINVAR | Genomic profiling identifies novel mutations and SNPs in ABCD1 gene: a molecular, biochemical and clinical analysis of X-ALD cases in India. | 21966424 | 2011 |
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|
A | 0.800 | CausalMutation | CLINVAR | Mutations in the adrenoleukodystrophy gene. | 9195223 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset. | 10480364 | 1999 |
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|
A | 0.800 | CausalMutation | CLINVAR | Clinical and genetic aspects of X-linked adrenoleukodystrophy. | 9553942 | 1998 |