DisGeNET - a database of gene-disease associations

Adrenoleukodystrophy, C0162309

Variant: rs128624218 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

26686776

2016

dbSNP:

rs128624218

ABCD1 ; BCAP31

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:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

21700483

2012

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.

21700483

2012

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.

21068741

2011

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

21889498

2011

dbSNP:

rs128624218

ABCD1 ; BCAP31

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

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

[Prenatal diagnosis of X-linked adrenoleukodystrophy].

17285533

2007

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

15800013

2005

dbSNP:

rs128624218

ABCD1 ; BCAP31

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:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Three ABCD1 gene missense mutations were detected in three unrelated Chinese families with X-linked adrenoleukodystrophy, one of which, the mutation (P534R), is novel in Chinese with ALD, and the other two G266R and R617G mutations, have been reported outside China.

15192815

2004

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

[X-linked adrenoleukodystrophy ABCD1 gene mutation analysis in China].

14767898

2004

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene.

12175782

2002

dbSNP:

rs128624218

ABCD1 ; BCAP31

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:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.

11248239

2001

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Characterisation of two mutations in the ABCD1 gene leading to low levels of normal ALDP.

11810273

2001

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.

10737980

2000

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

10369742

1999

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Mutational analysis and genotype-phenotype correlation of 29 unrelated Japanese patients with X-linked adrenoleukodystrophy.

10190819

1999

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.

10551832

1999

dbSNP:

rs128624218

ABCD1 ; BCAP31

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:

rs128624218

ABCD1 ; BCAP31

0.800

GeneticVariation

UNIPROT

First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.

9452087

1998

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Clinical and genetic aspects of X-linked adrenoleukodystrophy.

9553942

1998

dbSNP:

rs128624218

ABCD1 ; BCAP31

0.800

CausalMutation

CLINVAR

Mutations in the adrenoleukodystrophy gene.

9195223

1997