Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777630
rs587777630
STAT1
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
STAT1
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
STAT1
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
STAT1
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
STAT1
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
STAT1
A 0.700 CausalMutation CLINVAR Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 22730530

2012