DisGeNET - a database of gene-disease associations

STAT1, signal transducer and activator of transcription 1, 6772

N. diseases: 531; N. variants: 41

Disease: IMMUNODEFICIENCY 31A ×

Variant: rs587777705 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777705

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.800

GeneticVariation

UNIPROT

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with Mendelian susceptibility to mycobacterial disease.

22573496

2012

dbSNP:

rs587777705

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.800

GeneticVariation

UNIPROT

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

16934001

2006

dbSNP:

rs587777705

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.800

GeneticVariation

UNIPROT

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation.

11452125

2001

dbSNP:

rs587777705

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C4013950
Disease:

IMMUNODEFICIENCY 31A

0.800

CausalMutation

CLINVAR