rs1161032867, FUS

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Movement Disorders
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
Movement Disorders
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
Movement Disorders
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
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Exome sequencing identifies FUS mutations as a cause of essential tremor. 22863194 2012
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 20385912 2010
Movement Disorders
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
Movement Disorders
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