GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Gaucher Disease, Type 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908310
rs121908310
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		0.700 GeneticVariation UNIPROT Functional analysis of 11 novel GBA alleles. 24022302 2014
dbSNP: rs121908310
rs121908310
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		0.700 GeneticVariation UNIPROT The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 11933202 2002
dbSNP: rs121908310
rs121908310
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0268251
Disease:
Gaucher Disease, Type 3 (disorder) 		0.700 GeneticVariation UNIPROT Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. 8780099 1996