GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1317187144
rs1317187144
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance. 24313877 2014