DisGeNET - a database of gene-disease associations

Spastic paraplegia 4, autosomal dominant, C1866855

Variant: rs1218081251 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1218081251

SPAST

0.700

CausalMutation

CLINVAR

Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

20932283

2010

dbSNP:

rs1218081251

SPAST

0.700

CausalMutation

CLINVAR

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

11985387

2002

dbSNP:

rs1218081251

SPAST

0.700

CausalMutation

CLINVAR

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

11309678

2001

dbSNP:

rs1218081251

SPAST

0.700

CausalMutation

CLINVAR