FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: TREMOR, HEREDITARY ESSENTIAL, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR Activity-dependent FUS dysregulation disrupts synaptic homeostasis. 25324524 2014
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. 24908169 2014
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq. 23577159 2013
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation. 24204307 2013
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 GeneticVariation disease UNIPROT Exome sequencing identifies FUS mutations as a cause of essential tremor. 22863194 2012
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 22055719 2012
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. 20606625 2010
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 20577002 2010
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. 20668259 2010
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 CausalMutation disease CLINVAR Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 19251627 2009
CUI: C3539195
Disease: TREMOR, HEREDITARY ESSENTIAL, 4
TREMOR, HEREDITARY ESSENTIAL, 4 		0.600 Biomarker disease CTD_human