| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | Biomarker | disease | BEFREE | Significantly, these peptides have been previously identified in amyloid deposits <i>in vivo</i>, supporting the idea that HtrA1 is a causative agent for TGFBIp-associated amyloidosis in corneal dystrophy. | 31197037 | 2019 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | The study reveals previously unknown differences between the protein composition of GCD1 and LCD1 aggregates, and confirms the presence of the HtrA1 protease in LCD1-amyloid aggregates. | 26207300 | 2015 | ||||
|
0.090 | Biomarker | disease | BEFREE | Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. | 21743312 | 2011 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | In contrast with the patient carrying the Gly623Asp mutation of the TGFBI gene described by Afshari et al, our cases presented with Salzmann's nodular degeneration-like clinical features and their specimens contained KE2-positive amyloid. | 19019446 | 2009 | ||||
|
0.090 | GeneticVariation | disease | LHGDN | The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy. | 17893671 | 2007 | ||||
|
0.090 | GeneticVariation | disease | LHGDN | TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis. | 17982422 | 2007 | ||||
|
0.090 | GeneticVariation | disease | LHGDN | Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. | 15111592 | 2004 | ||||
|
0.090 | GeneticVariation | disease | LHGDN | Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene. | 15177960 | 2004 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses. | 9860011 | 1998 |