Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review. 26227820

2016
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1. 25324868

2014
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
0.800 GeneticVariation UNIPROT Clinical utility gene card for: adrenoleukodystrophy. 22071894

2012
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation. 10980309

2000
dbSNP: rs1057517954
rs1057517954
ABCD1 ; BCAP31
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995