DisGeNET - a database of gene-disease associations

ABCD1, ATP binding cassette subfamily D member 1, 215

N. diseases: 154; N. variants: 90

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

CausalMutation

CLINVAR

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

24719134

2014

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

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:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

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:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

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:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

CausalMutation

CLINVAR

ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.

23566833

2013

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21700483

2012

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21700483

2012

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21700483

2012

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

CausalMutation

CLINVAR

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

21700483

2012

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs398123105

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

15643618

2005

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

15643618

2005

dbSNP:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy.

15643618

2005

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

11248239

2001