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:	C1527231
Disease:

Adrenomyeloneuropathy

0.010

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:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs1569540695

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs201427153

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs782311214

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs782760033

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

26686776

2016

dbSNP:

rs1569541203

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

24480483

2014

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

24685009

2014

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.

24719134

2014

dbSNP:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs1569541203

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mutational analyses on X-linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene.

23835273

2013

dbSNP:

rs201427153

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs387906494

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Glutathione imbalance in patients with X-linked adrenoleukodystrophy.

23768953

2013

dbSNP:

rs387906494

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Epilepsy in adult X-linked adrenoleucodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene.

23154058

2013

dbSNP:

rs387906494

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

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

23566833

2013

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Parallel assessment of globin lentiviral transfer in induced pluripotent stem cells and adult hematopoietic stem cells derived from the same transplanted β-thalassemia patient.

23712774

2013

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.

23671276

2013

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

A Novel Double Mutation in the ABCD1 Gene in a Patient with X-linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein.

23430809

2013

dbSNP:

rs713993050

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Gene therapy on demand: site specific regulation of gene therapy.

23566848

2013

dbSNP:

rs782311214

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs782760033

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs1131691954

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21700483

2012

dbSNP:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

22071894

2012

dbSNP:

rs1569540704

Entrez Id:	215;10134
Gene Symbol:	ABCD1;BCAP31

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

CLINVAR

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

21700483

2012