DisGeNET - a database of gene-disease associations

Spastic paraplegia 11, autosomal recessive, C1858479

Variant: rs312262722 ×

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:

rs312262722

SPG11

0.700

CausalMutation

CLINVAR

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

24833714

2014

dbSNP:

rs312262722

SPG11

0.700

CausalMutation

CLINVAR

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

19196735

2009

dbSNP:

rs312262722

SPG11

0.700

CausalMutation

CLINVAR

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

19105190

2009

dbSNP:

rs312262722

SPG11

0.700

CausalMutation

CLINVAR

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

17322883

2007