Disease: IMMUNODEFICIENCY 31A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 28597685 2017
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 26743090 2016
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 26604104 2016
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 23541320 2013
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 23709754 2013
dbSNP: rs587777630
rs587777630
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
CUI: C4013950
Disease:
IMMUNODEFICIENCY 31A 		A 0.700 CausalMutation CLINVAR Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 22730530 2012