rs2230288, GBA

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.010 GeneticVariation BEFREE Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients. 31505070 2019
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.010 GeneticVariation BEFREE Also, we replicated previous reports of GBA coding variants (rs2230288: p.E365K; rs75548401: p.T408M) being associated with greater motor and cognitive decline over time, and an APOE E4 tagging variant (rs429358) being associated with greater cognitive deficits in patients. 31505070 2019