ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Virus Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		0.010 GeneticVariation group BEFREE This is the first report of a human pathogenic ELANE mutation associated with a defect in NETosis and a distinct syndrome of recurrent viral infection and chronic inflammation. 28881492 2017