rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
BEFREE
Our data indicate that the SPG8 -causing N471D mutation leads to a partial loss of Str function in the endolysosomal system.
30061306
2018
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
25454649
2014
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
23881105
2013
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
23085491
2013
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
20833645
2010
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.810
GeneticVariation
UNIPROT
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
rs80338865
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
C
0.810
CausalMutation
CLINVAR
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
25454649
2014
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
25454649
2014
rs80338867
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
25454649
2014
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
23881105
2013
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
23085491
2013
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
23085491
2013
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
23881105
2013
rs80338867
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.
23881105
2013
rs80338867
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.
23455931
2013
rs80338867
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.
23085491
2013
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
20833645
2010
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
20833645
2010
rs80338867
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
20833645
2010
rs397515564
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007
rs80338866
×
Entrez Id:
9897
Gene Symbol:
WASHC5
WASHC5
Spastic paraplegia 8, autosomal dominant
0.800
GeneticVariation
UNIPROT
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.
17160902
2007