DisGeNET - a database of gene-disease associations

GBA2, glucosylceramidase beta 2, 57704

N. diseases: 79; N. variants: 7

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

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

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

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:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

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:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

26220345

2015

dbSNP:

rs398123015

Entrez Id:	10488;57704
Gene Symbol:	CREB3;GBA2

CREB3;GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

26220345

2015

dbSNP:

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:

rs398123064

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

26220345

2015

dbSNP:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

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

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:

rs398123064

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

A novel GBA2 gene missense mutation in spastic ataxia.

24252062

2014

dbSNP:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

23332916

2013

dbSNP:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

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:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

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

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

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

Entrez Id:	10488;57704
Gene Symbol:	CREB3;GBA2

CREB3;GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

CLINVAR

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

23332917

2013

dbSNP:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs398123015

Entrez Id:	10488;57704
Gene Symbol:	CREB3;GBA2

CREB3;GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs398123064

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs398123064

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.800

GeneticVariation

UNIPROT

dbSNP:

rs398123012

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.700

CausalMutation

CLINVAR

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

28832565

2017

dbSNP:

rs398123015

Entrez Id:	10488;57704
Gene Symbol:	CREB3;GBA2

CREB3;GBA2

CUI:	C0037773
Disease:

Spastic Paraplegia, Hereditary

0.700

CausalMutation

CLINVAR

Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

28832565

2017

dbSNP:

rs398123013

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

26220345

2015

dbSNP:

rs398123014

Entrez Id:	57704
Gene Symbol:	GBA2

GBA2

CUI:	C2828721
Disease:

SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).

26220345

2015