DisGeNET - a database of gene-disease associations

SPG7, SPG7 matrix AAA peptidase subunit, paraplegin, 6687

N. diseases: 419; N. variants: 44

Disease: Ataxia ×

Variant: rs121918358 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121918358

rs121918358

Entrez Id:	6687
Gene Symbol:	SPG7

SPG7

CUI:	C0004134
Disease:

Ataxia

A

0.700

CausalMutation

CLINVAR

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.

2016