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: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.120 GeneticVariation disease BEFREE We report here the case of a 25-year-old woman with a bulbar onset ALS that progressed in less than 12 months to invasive ventilation due to respiratory failure; Genetic screening identified a new mutation in the FUS gene that lies within the last codon. 28054830 2017
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.120 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: C1145670
Disease: Respiratory Failure
Respiratory Failure
0.120 Biomarker disease HPO