FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606832
rs267606832
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267606832
rs267606832
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. 23474818 2013
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis. 24280224 2014
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies FUS mutations as a cause of essential tremor. 22863194 2012
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 20385912 2010
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. 26362943 2015
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 19251627 2009
dbSNP: rs1161032867
rs1161032867
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 20577002 2010
dbSNP: rs1555509569
rs1555509569
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267606833
rs267606833
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906627
rs387906627
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387907274
rs387907274
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. 20606625 2010
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 19251627 2009
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. 24204307 2013
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR Activity-dependent FUS dysregulation disrupts synaptic homeostasis. 25324524 2014
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. 23577159 2013
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 20577002 2010
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. 24908169 2014
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. 20668259 2010
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C1842675
Disease:
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		G 0.800 CausalMutation CLINVAR FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 22055719 2012
dbSNP: rs121909667
rs121909667
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C2750729
Disease:
Amyotrophic Lateral Sclerosis 6, Autosomal Recessive 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 CausalMutation CLINVAR Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. 24908169 2014