Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.130 GeneticVariation disease BEFREE Considering the high risk of bronchiectasis and irreversible organ damage, this case illustrates the need for monitoring of IgG levels and/or function in adult patients with STAT1 GOF mutations. 31068927 2019
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.130 GeneticVariation disease BEFREE Here, we report on a patient with CMC and bronchiectasis with various types of infections who carried a pathogenic variant of the <i>STAT1</i> gene. 30187709 2018
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.130 GeneticVariation disease BEFREE Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. 28427548 2017
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.130 CausalMutation disease CLINVAR
Entrez Id: 6772
Gene Symbol: STAT1
STAT1
0.130 Biomarker disease HPO