GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: GAUCHER DISEASE, PERINATAL LETHAL ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356772
rs80356772
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease:
GAUCHER DISEASE, PERINATAL LETHAL 		0.010 GeneticVariation BEFREE A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. 21823541 2011