FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients. 26362943 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis. 24280224 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules. 23474818 2013
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Exome sequencing identifies FUS mutations as a cause of essential tremor. 22863194 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 20385912 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. 20577002 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 CausalMutation group CLINVAR Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. 19251627 2009