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:

rs1569541088

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

22479560

2012

dbSNP:

rs201427153

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:

rs387906494

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.

22479560

2012

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

X-linked adrenoleukodystrophy: molecular and functional analysis of the ABCD1 gene in Argentinean patients.

23300730

2012

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Peroxisomal ABC transporters: structure, function and role in disease.

22366764

2012

dbSNP:

rs781862879

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

CLINVAR

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

21700483

2012

dbSNP:

rs781862879

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

CLINVAR

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

22483867

2012

dbSNP:

rs782311214

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:

rs782760033

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21700483

2012

dbSNP:

rs1557055340

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

CLINVAR

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

21889498

2011

dbSNP:

rs1557055340

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

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:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs1569540665

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

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:

rs1569541088

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

21300044

2011

dbSNP:

rs1569541203

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

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

21889498

2011

dbSNP:

rs1569541203

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs1569541203

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

20661612

2011

dbSNP:

rs201427153

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Latitude is significantly associated with the prevalence of multiple sclerosis: a meta-analysis.

21478203

2011

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Stem cell gene therapy: the risks of insertional mutagenesis and approaches to minimize genotoxicity.

22198747

2011

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

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:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report.

21586746

2011

dbSNP:

rs713993050

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

21488864

2011

dbSNP:

rs782311214

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21889498

2011

dbSNP:

rs782760033

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

21889498

2011