Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
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
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
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
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.130 GeneticVariation disease BEFREE Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis. 28427548 2017
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.130 CausalMutation disease CLINVAR
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
0.130 Biomarker disease HPO