DisGeNET - a database of gene-disease associations

Spastic paraplegia 11, autosomal recessive, C1858479

Variant: rs1555447432 ×

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:

rs1555447432

SPG11

0.700

GeneticVariation

CLINVAR

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

26556829

2016

dbSNP:

rs1555447432

SPG11

0.700

GeneticVariation

CLINVAR

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

22154821

2012

dbSNP:

rs1555447432

SPG11

0.700

GeneticVariation

CLINVAR

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

20110243

2010

dbSNP:

rs1555447432

SPG11

0.700

GeneticVariation

CLINVAR

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

19105190

2009