Disease: Respiratory Tract Infections ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		0.010 AlteredExpression group BEFREE We used whole-exome sequencing to identify compound heterozygous mutations in ARHGEF1, resulting in the loss of ARHGEF1 protein expression in 2 primary antibody-deficient siblings presenting with recurrent severe respiratory tract infections and bronchiectasis. 30521495 2019