FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: Amyotrophic Lateral Sclerosis, Sporadic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE We report a 36-years-old Cape Verdean man who presented with respiratory insufficiency due to rapidly progressive sporadic amyotrophic lateral sclerosis (ALS), in whom FUS mutation c.1551C > G (p.Hist517Gln) in heterozygosity was identified, a finding previously described as non-pathogenic. 28288521 2017
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 Biomarker disease BEFREE TAR DNA-binding protein 43 (TDP-43) and fused in sarcoma (FUS) were recently found to cause familial and sporadic amyotrophic lateral sclerosis (ALS). 26174443 2015
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis. 25457557 2015
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis. 26176978 2015
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. 24439481 2014
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. 23046859 2013
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 Biomarker disease BEFREE Abundant FUS-immunoreactive pathology in the skin of sporadic amyotrophic lateral sclerosis. 23448665 2013
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Fused in sarcoma (FUS) is mutated in both sporadic amyotrophic lateral sclerosis (ALS) and familial ALS patients. 23172909 2013
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Mutations in the gene encoding the RNA-binding protein fused in sarcoma (FUS) can cause familial and sporadic amyotrophic lateral sclerosis (ALS) and rarely frontotemproal dementia (FTD). 23046583 2012
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE We report a patient with sporadic amyotrophic lateral sclerosis (ALS) with a novel fusion in malignant liposarcoma (FUS) gene mutation whose neurological signs were conspicuous left-sided rigidity and apraxia. 22999566 2012
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. 22055719 2012
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE FUS mutations in sporadic amyotrophic lateral sclerosis. 20138404 2011
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. 20232451 2010
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis. 20544928 2010
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. 19861302 2010
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.100 GeneticVariation disease BEFREE Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. 20385912 2010