DisGeNET - a database of gene-disease associations

Spastic Paraplegia, Hereditary, C0037773

Variant: rs760818649 ×

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:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

Clinical and genetic study of hereditary spastic paraplegia in Canada.

27957547

2017

dbSNP:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

26756429

2016

dbSNP:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

SPG7 mutations are a common cause of undiagnosed ataxia.

25681447

2015

dbSNP:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.

23733235

2013

dbSNP:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

23065789

2012

dbSNP:

rs760818649

SPG7

0.700

CausalMutation

CLINVAR

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

18563470

2008