DisGeNET - a database of gene-disease associations

Spastic paraplegia 4, autosomal dominant, C1866855

Gene: SPAST ×

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:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

24824479

2014

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

24824479

2014

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

24824479

2014

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

24824479

2014

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

23279441

2013

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

23279441

2013

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

23279441

2013

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.

23279441

2013

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

17594340

2007

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

17594340

2007

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

17594340

2007

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

17594340

2007

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

16682546

2006

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

16339213

2006

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

16682546

2006

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

16339213

2006

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

16682546

2006

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

16339213

2006

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.

16339213

2006

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia.

16682546

2006

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

15891913

2005

dbSNP:

rs1553316816

SPAST

0.700

GeneticVariation

UNIPROT

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

15891913

2005

dbSNP:

rs372005558

SPAST

0.700

GeneticVariation

UNIPROT

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

15891913

2005

dbSNP:

rs773193617

SPAST

0.700

GeneticVariation

UNIPROT

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia.

15891913

2005

dbSNP:

rs144594804

SPAST

0.700

GeneticVariation

UNIPROT

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.

15159500

2004