DisGeNET - a database of gene-disease associations

FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39

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:

rs1052352

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0030567
Disease:

Parkinson Disease

0.010

GeneticVariation

BEFREE

A novel variant c.696C > T (p.Y232Y) in 2 sporadic patients with PD and six variants (c.52C > A, p.P18T; c.52C > T, p.P18S; c.147C > A, p.G49G; c.291C > T, p.Y97Y; c.684C > T, p.G228G; c.1176G > A, p.M392I) without significant difference in genotypic and allelic distributions in our PD cohort were identified.

24080306

2014

dbSNP:

rs1052352

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0751072
Disease:

Frontotemporal Lobar Degeneration

0.010

GeneticVariation

BEFREE

Two hundred and fifty one Italian patients with sporadic frontotemporal lobar degeneration (FTLD) and 259 age-matched controls were tested for association with the tagging single nucleotide polymorphisms (SNPs) rs741810 and rs1052352 in the fused in sarcoma/translated in liposarcoma gene (FUS/TLS).

20061612

2010

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

23474818

2013

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis.

24280224

2014

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Exome sequencing identifies FUS mutations as a cause of essential tremor.

22863194

2012

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

20385912

2010

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

26362943

2015

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

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

19251627

2009

dbSNP:

rs1161032867

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

20577002

2010

dbSNP:

rs1165095258

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.700

GeneticVariation

UNIPROT

dbSNP:

rs121909667

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C2750729
Disease:

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

0.700

CausalMutation

CLINVAR

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.

20606625

2010

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

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

19251627

2009

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

GeneticVariation

UNIPROT

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

19251628

2009

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.

24204307

2013

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

Activity-dependent FUS dysregulation disrupts synaptic homeostasis.

25324524

2014

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

GeneticVariation

UNIPROT

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

19251627

2009

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

23577159

2013

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

GeneticVariation

UNIPROT

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

27604643

2016

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

20577002

2010

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

24908169

2014

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

20668259

2010

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

CausalMutation

CLINVAR

FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

22055719

2012

dbSNP:

rs121909668

Entrez Id:	2521
Gene Symbol:	FUS

FUS

CUI:	C1842675
Disease:

AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)

0.800

GeneticVariation

UNIPROT

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

19861302

2010