rs2230288, GBA

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.020 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
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.020 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
Cognition Disorders
CUI: C0009241
Disease: Cognition Disorders
0.020 GeneticVariation BEFREE The discovery that E326K negatively impacts cognitive performance approximately doubles the proportion of PD patients we now recognize are at risk for more severe GBA-related cognitive deficits. 26296077 2016