USP14, ubiquitin specific peptidase 14, 9097

N. diseases: 79; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.010 GeneticVariation group BEFREE Thus, proteasome content, composition and activity are altered in these diseases and USP14 inhibitors have therapeutic potential in S63del neuropathy. 29076578 2018