ELANE, elastase, neutrophil expressed, 1991

N. diseases: 346; N. variants: 33
Disease: Frontotemporal Lobar Degeneration ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1417841099
rs1417841099
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C0751072
Disease:
Frontotemporal Lobar Degeneration 		0.010 GeneticVariation BEFREE We identified a double missense mutation in GRN leading to amino acid changes p.D33E and p.G35R in an FTLD patient from Turkish origin. 26811050 2016