DisGeNET - a database of gene-disease associations

Spastic paraplegia 4, autosomal dominant, C1866855

Variant: rs1064793976 ×

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:

rs1064793976

SPAST

0.700

CausalMutation

CLINVAR

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

17100993

2006

dbSNP:

rs1064793976

SPAST

0.700

CausalMutation

CLINVAR

Spastin mutations in sporadic adult-onset upper motor neuron syndromes.

16240363

2005

dbSNP:

rs1064793976

SPAST

0.700

CausalMutation

CLINVAR

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia.

11843700

2002