UBQLN2, ubiquilin 2, 29978

N. diseases: 59; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.110 GeneticVariation disease BEFREE The mutation in UBQLN2 was first identified in a 35-year-old female who presented with one year of progressive dysarthria, dyspnea, dysphagia, and cognitive decline. 23944734 2013
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.110 Biomarker disease HPO