rs121909335, VCP

N. diseases: 9
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. 27226613 2016
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. 26555887 2015
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. 24829604 2014
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. 25492614 2014
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR VCP mutations in familial and sporadic amyotrophic lateral sclerosis. 22078486 2012
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. 22270372 2012
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. 19704082 2009
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. 19225410 2009
AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
CUI: C3151403
Disease: AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
0.700 CausalMutation CLINVAR Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. 16247064 2005