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: rs1254812113
rs1254812113
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Using newly generated GD/PD mouse lines of either sex [<i>Gba</i> mutant (N370S, L444P, KO) crossed to α-synuclein transgenics], we show that <i>Gba</i> mutations predispose to PD through a loss-of-function mechanism. 28847804 2017
dbSNP: rs398123012
rs398123012
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956 2018
dbSNP: rs398123015
rs398123015
Entrez Id: 10488;57704
Gene Symbol: CREB3;GBA2
CREB3;GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956 2018
dbSNP: rs398123064
rs398123064
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C2828721
Disease:
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE 		G 0.800 GeneticVariation CLINVAR Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. 30308956 2018
dbSNP: rs398123064
rs398123064
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
CUI: C1849156
Disease:
Spastic Ataxia 		0.010 GeneticVariation BEFREE Our group has previously identified the <i>GBA2</i> c.1780G>C [p.Asp594His] missense mutation, in a Cypriot consanguineous family with spastic ataxia. 30308956 2018