Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.030 Biomarker group BEFREE STAT5B deficient patients, unlike patients deficient in GHR, can also present with a novel, potentially fatal, primary immunodeficiency, which can manifest as chronic pulmonary disease. 26703237 2016
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.030 Biomarker group BEFREE A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. 22419735 2012
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.030 GeneticVariation group BEFREE Unlike GHIS due to GHR mutations, patients carrying STAT5b mutations also presented with chronic pulmonary disease and evidence of perturbations of T-cell homeostasis. 21396575 2011