DisGeNET - a database of gene-disease associations

Variant: rs796065052 ×

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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

STAT1

CUI:	C0006845
Disease:	Candidiasis, Chronic Mucocutaneous

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.

2014