Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR Guillain Barré Syndrome in a Child With X-Linked Adrenoleukodystrophy. 28503596

2019
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation. 26686776

2016
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR An under-recognised cause of spastic paraparesis in middle-aged women. 24154795

2014
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene. 23651979

2013
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism. 21700483

2012
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy. 21889498

2011
dbSNP: rs398123106
rs398123106
ABCD1
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
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene. 12175782

2002
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange. 11438993

2001
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters. 11248239

2001
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP. 11810273

2001
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. 10737980

2000
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters. 10551832

1999
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy. 10190819

1999
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Two novel missense mutations causing adrenoleukodystrophy in Italian patients. 10369742

1999
dbSNP: rs398123106
rs398123106
ABCD1
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
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy. 9452087

1998
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy. 8566952

1996
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes. 7717396

1995
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. 7825602

1995
dbSNP: rs398123106
rs398123106
ABCD1
T 0.800 CausalMutation CLINVAR Altered expression of ALDP in X-linked adrenoleukodystrophy. 7668254

1995
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Mutational analysis of patients with X-linked adrenoleukodystrophy. 7581394

1995
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD). 7849723

1994
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene. 8040304

1994
dbSNP: rs398123106
rs398123106
ABCD1
0.800 GeneticVariation UNIPROT Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy. 7904210

1993