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: rs78198234
rs78198234
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease:
GAUCHER DISEASE, PERINATAL LETHAL 		0.800 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
dbSNP: rs78198234
rs78198234
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease:
GAUCHER DISEASE, PERINATAL LETHAL 		0.800 GeneticVariation UNIPROT Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? 10352942 1999
dbSNP: rs78198234
rs78198234
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1842704
Disease:
GAUCHER DISEASE, PERINATAL LETHAL 		C 0.800 CausalMutation CLINVAR