FUS, FUS RNA binding protein, 2521

N. diseases: 301; N. variants: 39
Disease: Behavioral variant of frontotemporal dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		0.020 Biomarker disease BEFREE This patient demonstrates the striking focality associated with FUS neuropathology in patients with bvFTD. 22060063 2012
CUI: C4011788
Disease: Behavioral variant of frontotemporal dementia
Behavioral variant of frontotemporal dementia 		0.020 GeneticVariation disease BEFREE We identified 2 novel heterozygous missense mutations in FUS: P106L (g.22508384C>T) in a patient with behavioral variant frontotemporal dementia (bvFTD) and Q179H in several members of a family with behavioral variant FTD. 21943958 2012