rs387906709, UBQLN2

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 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
Frontotemporal dementia
CUI: C0338451
Disease: Frontotemporal dementia
0.020 GeneticVariation BEFREE Here, we demonstrate that ALS/FTD UBQLN2 mutants P497H and P506T inhibit protein transport from the endoplasmic reticulum (ER) to the Golgi apparatus in neuronal cells. 31802140 2019