rs421016, GBA

N. diseases: 30
Disease: Septicemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Septicemia
CUI: C0036690
Disease: Septicemia
0.010 GeneticVariation BEFREE Of the two patients homozygous for the p.L483P (L444P) mutation, one died from hepatic failure at age 16 years and the other died from sepsis at age 12 years. 23719189 2013