GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123015
rs398123015
Entrez Id: 10488;57704
Gene Symbol: CREB3;GBA2
CREB3;GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		T 0.800 GeneticVariation CLINVAR Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917 2013
dbSNP: rs398123012
rs398123012
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs398123015
rs398123015
Entrez Id: 10488;57704
Gene Symbol: CREB3;GBA2
CREB3;GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs398123064
rs398123064
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs398123064
rs398123064
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT