UBQLN1, ubiquilin 1, 29979

N. diseases: 49; N. variants: 3
Disease: Brown-Vialetto-Van Laere Syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1 		0.010 GeneticVariation disease BEFREE A novel UBQLN1 mutation (E45D) detected in a patient with BVVLS altered nuclear TDP-43 localization in vitro, suggesting that UPS dysfunction may also underlie the pathogenesis of this condition. 22766032 2012