ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Hereditary cystatin C amyloid angiopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		0.010 GeneticVariation disease BEFREE Monomeric as well as dimeric L68Q cystatin C incubated with neutrophil elastase was truncated as in HCCAA patients' amyloid. 11934268 2002