FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: TREMOR, HEREDITARY ESSENTIAL, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606832
rs267606832
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		0.800 GeneticVariation UNIPROT Exome sequencing identifies FUS mutations as a cause of essential tremor. 22863194 2012
dbSNP: rs267606832
rs267606832
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		T 0.800 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
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 CausalMutation CLINVAR Activity-dependent FUS dysregulation disrupts synaptic homeostasis. 25324524 2014
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 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: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 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: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 CausalMutation CLINVAR FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 22055719 2012
dbSNP: rs121909668
rs121909668
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 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: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 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: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 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: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		G 0.700 CausalMutation CLINVAR Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 19251627 2009
dbSNP: rs186547381
rs186547381
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs387907274
rs387907274
Entrez Id: 2521
Gene Symbol: FUS
FUS
CUI: C3539195
Disease:
TREMOR, HEREDITARY ESSENTIAL, 4 		T 0.700 CausalMutation CLINVAR