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: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
0.050 GeneticVariation group BEFREE The Finnish type of familial amyloid polyneuropathy due to variant gelsolin is a rare form of familial amyloidosis. 16870032 2006
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
0.050 GeneticVariation group BEFREE We report a Portuguese family with familial amyloid polyneuropathy related to gelsolin. 14639586 2003
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
0.050 GeneticVariation group BEFREE Familial amyloid polyneuropathy (FAP) is most commonly associated with variant plasma transthyretin, although it has also been described in association with mutant apolipoprotein A-1 and gelsolin. 8293178 1993
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
0.050 GeneticVariation group BEFREE The Finnish type of familial amyloid polyneuropathy (FAF) is an autosomal dominant form of systemic amyloidosis caused by a mutation in the gelsolin gene. 1322359 1992
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
Amyloid Neuropathies, Familial
0.050 Biomarker group BEFREE The results provide evidence for the relation between the amyloid deposited in the systemic tissues of patients with Finnish familial amyloid polyneuropathy and gelsolin, and demonstrate the utility of these anti-gelsolin antibodies in diagnostic immunohistochemistry. 1848334 1991