DisGeNET - a database of gene-disease associations

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), C1842675

Variant: rs121909671 ×

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:

rs121909671

FUS

0.800

GeneticVariation

UNIPROT

Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

27604643

2016

dbSNP:

rs121909671

FUS

0.800

GeneticVariation

UNIPROT

Genetic contribution of FUS to frontotemporal lobar degeneration.

20124201

2010

dbSNP:

rs121909671

FUS

0.800

GeneticVariation

UNIPROT

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

19861302

2010

dbSNP:

rs121909671

FUS

0.800

GeneticVariation

UNIPROT

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

19251627

2009

dbSNP:

rs121909671

FUS

0.800

GeneticVariation

UNIPROT

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

19251628

2009

dbSNP:

rs121909671

FUS

0.800

CausalMutation

CLINVAR