DisGeNET - a database of gene-disease associations

Spastic paraplegia 4, autosomal dominant, C1866855

Variant: rs1553316838 ×

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:

rs1553316838

SPAST

0.700

CausalMutation

CLINVAR

Distinct intracellular vesicle transport mechanisms are selectively modified by spastin and spastin mutations.

20665701

2011

dbSNP:

rs1553316838

SPAST

0.700

CausalMutation

CLINVAR

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

10699187

2000