DisGeNET - a database of gene-disease associations

Immune dysfunction with T-cell inactivation due to calcium entry defect 2, C2748557

Variant: rs397514671 ×

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:

rs397514671

STIM1

0.800

GeneticVariation

UNIPROT

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

22190180

2012

dbSNP:

rs397514671

STIM1

0.800

GeneticVariation

UNIPROT

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

19420366

2009

dbSNP:

rs397514671

STIM1

0.800

CausalMutation

CLINVAR