DisGeNET - a database of gene-disease associations

STAT1, signal transducer and activator of transcription 1, 6772

N. diseases: 531; N. variants: 41

Disease: Candidiasis, Chronic Mucocutaneous ×

Variant: rs796065052 ×

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:

rs796065052

Entrez Id:	6772
Gene Symbol:	STAT1

STAT1

CUI:	C0006845
Disease:

Candidiasis, Chronic Mucocutaneous

0.010

GeneticVariation

BEFREE

In this study, we report two novel STAT1 GOF mutations of p.K278E in coiled-coil domain and p.G384D in DNA-binding domain in Japanese CMCD patients.

25288569

2014