rs387906709, UBQLN2

N. diseases: 9
Disease: Pick Disease of the Brain ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pick Disease of the Brain
CUI: C0236642
Disease: Pick Disease of the Brain
0.010 GeneticVariation BEFREE Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%). 30348461 2019