rs121909335, VCP

N. diseases: 9
Disease: Frontotemporal dementia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.020 GeneticVariation BEFREE Increased FLNC levels were, to a lesser extent, also identified in a FLNC p.V831I variant carrier and in FTD patients with the p.R159H mutation in valosin-containing protein (VCP). 26555887 2015
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.020 GeneticVariation BEFREE Two nonsynonymous mutations were detected; 1 known mutation (p.R159H) in a patient with familial ALS with several family members suffering from FTD, and 1 mutation (p.I114V) in a patient with sporadic ALS. 22078486 2012