GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: Familial Amyloid Polyneuropathy, Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		0.320 GermlineCausalMutation disease ORPHANET Danish type gelsolin-related amyloidosis in a Brazilian family: case reports. 22068858 2012
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		0.320 GermlineCausalMutation disease ORPHANET Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. 22622774 2012
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		0.320 GermlineCausalMutation disease ORPHANET Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. 16258946 2006
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		0.320 GeneticVariation disease BEFREE Direct sequence analysis of a DNA fragment spanning codon 187 of plasma gelsolin complementary DNA and restriction analysis using a modified polymerase chain reaction demonstrated a single base substitution, guanine to adenine, at nucleotide position 654, which is identical to the mutation in Finnish familial amyloid polyneuropathy type IV. 8388189 1993
CUI: C0936273
Disease: Familial Amyloid Polyneuropathy, Type IV
Familial Amyloid Polyneuropathy, Type IV 		0.320 GeneticVariation disease BEFREE The results show that the subunit amyloid protein in familial amyloid polyneuropathy type IV represents a unique type of amyloid derived from a variant (Asn-187) gelsolin molecule by limited proteolysis. 2176550 1990