Gene: ABCD1 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. 24719134

2014
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy. 23566833

2013
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes. 20661612

2011
dbSNP: rs398123102
rs398123102
ABCD1
A 0.810 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
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Except for two mutations (delAG1801 and P560L) observed four times each, nearly every ALD family has a different mutation. 8651290

1996
dbSNP: rs398123105
rs398123105
ABCD1
T 0.810 CausalMutation CLINVAR Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. 7717396

1995
dbSNP: rs128624223
rs128624223
ABCD1
T 0.810 CausalMutation CLINVAR

dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy. 28503596

2019
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: rs128624219
rs128624219
ABCD1
A 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms. 26388597

2016
dbSNP: rs128624224
rs128624224
ABCD1
G 0.800 CausalMutation CLINVAR Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands. 27084228

2016
dbSNP: rs1557054776
rs1557054776
ABCD1
T 0.800 CausalMutation CLINVAR Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics. 27067449

2016
dbSNP: rs11146842
rs11146842
ABCD1
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
dbSNP: rs1557052302
rs1557052302
ABCD1 ; BCAP31
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
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: rs1557052390
rs1557052390
ABCD1 ; BCAP31
G 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure? 24722136

2014
dbSNP: rs1557054776
rs1557054776
ABCD1
T 0.800 CausalMutation CLINVAR Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation. 24788897

2014
dbSNP: rs1557054776
rs1557054776
ABCD1
T 0.800 CausalMutation CLINVAR X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. 24480483

2014
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR An under-recognised cause of spastic paraparesis in middle-aged women. 24154795

2014
dbSNP: rs886044777
rs886044777
ABCD1
A 0.800 GeneticVariation CLINVAR Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. 24719134

2014
dbSNP: rs886044777
rs886044777
ABCD1
A 0.800 GeneticVariation CLINVAR X-linked adrenoleukodystrophy in women: a cross-sectional cohort study. 24480483

2014
dbSNP: rs1131691743
rs1131691743
ABCD1 ; BCAP31
T 0.800 CausalMutation CLINVAR Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance. 23419472

2013
dbSNP: rs128624219
rs128624219
ABCD1
A 0.800 CausalMutation CLINVAR Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance. 23419472

2013
dbSNP: rs1557054873
rs1557054873
ABCD1
A 0.800 CausalMutation CLINVAR ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy. 23566833

2013