DisGeNET - a database of gene-disease associations

Tyrosine Kinase 2 Deficiency, C1969086

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:

rs775578531

TYK2

0.700

GeneticVariation

CLINVAR

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

26304966

2015

dbSNP:

rs775578531

TYK2

0.700

GeneticVariation

CLINVAR

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

22402565

2012

dbSNP:

rs770927552

TYK2

0.700

CausalMutation

CLINVAR

Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.

17088085

2006

dbSNP:

rs1555715518

TYK2

0.700

CausalMutation

CLINVAR

dbSNP:

rs201025290

TYK2

0.700

CausalMutation

CLINVAR

dbSNP:

rs869320745

TYK2

0.700

CausalMutation

CLINVAR

dbSNP:

rs879253731

TYK2

0.700

CausalMutation

CLINVAR

dbSNP:

rs879253732

TYK2

0.700

CausalMutation

CLINVAR