DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Adrenoleukodystrophy ×

Variant: rs387906494 ×

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:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Glutathione imbalance in patients with X-linked adrenoleukodystrophy.

23768953

2013

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

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

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

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

23566833

2013

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

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

22479560

2012

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations.

11748843

2001

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

8651290

1996

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

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

7849723

1994

dbSNP:

rs387906494

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.700

CausalMutation

CLINVAR

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.

8048932

1994