rs398123064
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs1254812113
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
Spastic Paraplegia, Hereditary
A
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
rs398123015
CREB3;GBA2
Spastic Paraplegia, Hereditary
T
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
rs398123013
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.700
CausalMutation
CLINVAR
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
26220345
2015
rs398123014
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.700
CausalMutation
CLINVAR
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
26220345
2015
rs398123013
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.700
CausalMutation
CLINVAR
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
23332917
2013
rs398123014
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.700
CausalMutation
CLINVAR
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
23332917
2013
rs1448182827
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
Spastic Paraplegia
A
0.700
CausalMutation
CLINVAR
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs398123015
CREB3;GBA2
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
rs398123064
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.800
GeneticVariation
CLINVAR
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
26220345
2015
rs398123015
CREB3;GBA2
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
rs398123015
CREB3;GBA2
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
rs398123064
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
G
0.800
GeneticVariation
CLINVAR
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
26220345
2015
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
A novel GBA2 gene missense mutation in spastic ataxia.
24252062
2014
rs398123015
CREB3;GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
A novel GBA2 gene missense mutation in spastic ataxia.
24252062
2014
rs398123064
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
G
0.800
GeneticVariation
CLINVAR
A novel GBA2 gene missense mutation in spastic ataxia.
24252062
2014
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
A
0.800
GeneticVariation
CLINVAR
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
23332916
2013
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
23332917
2013
rs398123012
×
Entrez Id:
57704
Gene Symbol:
GBA2
GBA2
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
rs398123015
CREB3;GBA2
SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
0.800
GeneticVariation
UNIPROT
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
23332917
2013
rs398123015
CREB3;GBA2
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