| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.320 | GermlineCausalMutation | disease | ORPHANET | Danish type gelsolin-related amyloidosis in a Brazilian family: case reports. | 22068858 | 2012 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.300 | Biomarker | disease | CTD_human | [Therapeutic strategy for familial amyloid polyneuropathy (FAP)]. | 20030258 | 2009 | ||||
|
0.300 | Biomarker | disease | CTD_human | The crystal structure of transthyretin in complex with diethylstilbestrol: a promising template for the design of amyloid inhibitors. | 15469931 | 2004 | ||||
|
0.300 | Biomarker | disease | CTD_human | Evidence of oxidative stress in familial amyloidotic polyneuropathy type 1. | 12707074 | 2003 | ||||
|
0.300 | Biomarker | disease | CTD_human | A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels. | 10529370 | 1999 |