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:

rs128624218

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.800

CausalMutation

CLINVAR

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

14767898

2004

dbSNP:

rs128624224

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.800

CausalMutation

CLINVAR

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

14767898

2004

dbSNP:

rs128624218

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.800

CausalMutation

CLINVAR

[Prenatal diagnosis of X-linked adrenoleukodystrophy].

17285533

2007

dbSNP:

rs4010613

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.800

CausalMutation

CLINVAR

[Avoiding the interference of ABCD1 pseudogenes in the molecular diagnosis of X-linked adrenoleukodystrophy by double amplification refractory mutation system].

17029209

2006

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:

rs398123102

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:

rs398123105

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:

rs128624213

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624214

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624215

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624216

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624217

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624219

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624220

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624224

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs128624225

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs150346282

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs1557054873

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs201774661

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs398123106

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs886044777

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

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:

rs201568579

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.710

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:

rs1557052362

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

ABCD1;BCAP31

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

CLINVAR

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

10480364

1999

dbSNP:

rs1557055398

Entrez Id:	215
Gene Symbol:	ABCD1

ABCD1

CUI:	C0162309
Disease:

Adrenoleukodystrophy

0.700

GeneticVariation

UNIPROT

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

10480364

1999