rs2230288, GBA

N. diseases: 18
Disease: Gaucher Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.040 GeneticVariation BEFREE The E326K variant, which is not considered a Gaucher's disease causing mutation, was recently shown to increase the risk for PD. 31662221 2019
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.040 GeneticVariation BEFREE However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). 29808112 2018
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.040 GeneticVariation BEFREE Furthermore, our results reveal that the most prevalent PD-associated GBA1 mutation is E326K, a variant that does not, when homozygous, cause GD. 23225227 2013
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.040 GeneticVariation BEFREE Expression studies revealed that the c.1093G>A (p.E326K) change, which was never found alone in a Gaucher disease-causing allele, when found in a double mutant such as [c.680A>G; c.1093G>A] ([p.N188S; p.E326K]) and [c.1448T>C; c.1093G>A] ([p.L444P; p.E326K]), decreases activity compared to the activity found for the other mutation alone. 15146461 2004