FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: Juvenile amyotrophic lateral sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GeneticVariation disease BEFREE Clinical and Genetic Features of Patients with Juvenile Amyotrophic Lateral Sclerosis with Fused in Sarcoma (FUS) Mutation. 30507891 2018
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GeneticVariation disease BEFREE Our results justify future screening for variants in FUS as it remains the most frequent genetic determinant of early onset, JALS (found in 30% of our patients). 28429524 2017
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GeneticVariation disease BEFREE Using dual-tag affinity purification and mass spectrometry, we compared the interactome of the wild-type FUS and the P525 L mutant, which causes juvenile amyotrophic lateral sclerosis with the most severe phenotypes. 25192599 2015
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GermlineCausalMutation disease ORPHANET De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. 23046859 2013
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GeneticVariation disease BEFREE Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. 22248478 2012
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GermlineCausalMutation disease ORPHANET P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. 21907581 2012
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GermlineCausalMutation disease ORPHANET Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. 22248478 2012
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GeneticVariation disease BEFREE P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis. 21907581 2012
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GermlineCausalMutation disease ORPHANET Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. 20668261 2010
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		0.350 GermlineCausalMutation disease ORPHANET Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. 20579074 2010