DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Adrenoleukodystrophy ×

Variant: rs1064793877 ×

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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:

rs1064793877

rs1064793877

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: adrenoleukodystrophy.

2012

dbSNP:

rs1064793877

rs1064793877

ABCD1

CUI:	C0162309
Disease:	Adrenoleukodystrophy

Adrenoleukodystrophy

T

0.800

CausalMutation

CLINVAR