DisGeNET - a database of gene-disease associations

Interleukin 2 Receptor, Alpha, Deficiency of, C1853392

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:

rs796051887

rs796051887

IL2RA

0.800

GeneticVariation

UNIPROT

dbSNP:

rs796051887

rs796051887

IL2RA

T

0.800

CausalMutation

CLINVAR

dbSNP:

rs796051888

rs796051888

IL2RA

G

0.800

CausalMutation

CLINVAR

dbSNP:

rs796051888

rs796051888

IL2RA

0.800

GeneticVariation

UNIPROT

dbSNP:

rs886041032

rs886041032

IL2RA

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs886041037

rs886041037

IL2RA

A

0.700

CausalMutation

CLINVAR

dbSNP:

rs886041038

rs886041038

IL2RA

CT

0.700

CausalMutation

CLINVAR