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

X-linked adrenomyeloneuropathy associated with 14 novel ALD-gene mutations: no correlation between type of mutation and age of onset.

10480364

1999

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Mutational analysis of patients with X-linked adrenoleukodystrophy.

7581394

1995

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

10737980

2000

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

BEFREE

A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.

7876858

1995

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

7904210

1993

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

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

21889498

2011

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.

7717396

1995

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

8040304

1994

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

8566952

1996

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

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

7825602

1995

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

10369742

1999

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

10551832

1999

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

9452087

1998

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:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

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

11810273

2001

dbSNP:

rs128624223

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

7849723

1994

dbSNP:

rs398123102

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

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:

rs398123102

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.810

GeneticVariation

UNIPROT

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.

7825602

1995