GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE ×
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 		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 		T 0.800 GeneticVariation CLINVAR Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345 2015
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 Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). 26220345 2015
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 A novel GBA2 gene missense mutation in spastic ataxia. 24252062 2014
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 Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. 23332917 2013
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 Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. 23332916 2013
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: 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