DisGeNET - a database of gene-disease associations

Spastic paraplegia 8, autosomal dominant, C1863704

Gene: WASHC5 ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338865

WASHC5

0.810

GeneticVariation

UNIPROT

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

25454649

2014

dbSNP:

rs80338865

WASHC5

0.810

GeneticVariation

UNIPROT

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

23455931

2013

dbSNP:

rs80338865

WASHC5

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

dbSNP:

rs80338865

WASHC5

0.810

GeneticVariation

UNIPROT

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

23881105

2013

dbSNP:

rs80338865

WASHC5

0.810

GeneticVariation

UNIPROT

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

20833645

2010

dbSNP:

rs80338865

WASHC5

0.810

GeneticVariation

UNIPROT

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

17160902

2007

dbSNP:

rs397515564

WASHC5

0.800

GeneticVariation

UNIPROT

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

25454649

2014

dbSNP:

rs80338866

WASHC5

0.800

GeneticVariation

UNIPROT

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

25454649

2014

dbSNP:

rs80338867

WASHC5

0.800

GeneticVariation

UNIPROT

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

25454649

2014

dbSNP:

rs397515564

WASHC5

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

dbSNP:

rs397515564

WASHC5

0.800

GeneticVariation

UNIPROT

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

23881105

2013

dbSNP:

rs397515564

WASHC5

0.800

GeneticVariation

UNIPROT

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

23455931

2013

dbSNP:

rs80338866

WASHC5

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

dbSNP:

rs80338866

WASHC5

0.800

GeneticVariation

UNIPROT

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

23455931

2013

dbSNP:

rs80338866

WASHC5

0.800

GeneticVariation

UNIPROT

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

23881105

2013

dbSNP:

rs80338867

WASHC5

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

dbSNP:

rs80338867

WASHC5

0.800

GeneticVariation

UNIPROT

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

23881105

2013

dbSNP:

rs80338867

WASHC5

0.800

GeneticVariation

UNIPROT

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

23455931

2013

dbSNP:

rs397515564

WASHC5

0.800

GeneticVariation

UNIPROT

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

20833645

2010

dbSNP:

rs80338866

WASHC5

0.800

GeneticVariation

UNIPROT

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

20833645

2010

dbSNP:

rs80338867

WASHC5

0.800

GeneticVariation

UNIPROT

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

20833645

2010

dbSNP:

rs397515564

WASHC5

0.800

GeneticVariation

UNIPROT

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

17160902

2007

dbSNP:

rs80338866

WASHC5

0.800

GeneticVariation

UNIPROT

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

17160902

2007

dbSNP:

rs80338867

WASHC5

0.800

GeneticVariation

UNIPROT

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

17160902

2007

dbSNP:

rs755285830

WASHC5

0.700

GeneticVariation

UNIPROT

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

25454649

2014