GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.020 GeneticVariation group BEFREE This American family presented with progressive bulbar neuropathy due to a gelsolin mutation not found in Finland. 28039894 2017
CUI: C0442874
Disease: Neuropathy
Neuropathy
0.020 GeneticVariation group BEFREE Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report. 17453628 2007