GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064651
rs1064651
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C3258293
Disease:
Valvular disease
0.010 GeneticVariation BEFREE Homozygosity for the D409H mutation has been associated with cardiovascular valvular disease. 11359469 2001