DisGeNET - a database of gene-disease associations

Aortic Aneurysm, Abdominal, C0162871

Variant: rs2836411 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs2836411

ERG

0.720

GeneticVariation

BEFREE

Associations between rs9316871and rs2836411 and AAA risk were replicated in the meta-analysis of the two independent cohorts, providing further support for the importance of these loci in the aetiology of AAA.

31680049

2020

dbSNP:

rs2836411

ERG

0.720

GeneticVariation

BEFREE

ERG is involved in vascular development, angiogenesis, and inflammation in atherosclerosis, therefore mechanistically, rs2836411 could contribute to AAA by modulating ERG levels.

31691800

2020

dbSNP:

rs2836411

ERG

0.720

GeneticVariation

GWASCAT

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.

27899403

2017