Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | BEFREE | We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene. | 28393022 | 2017 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | BEFREE | In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution. | 24302499 | 2014 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | BEFREE | Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD. | 22355247 | 2012 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. | 16541014 | 2006 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I. | 17013691 | 2006 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. | 15623763 | 2005 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. | 15838722 | 2005 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | BEFREE | Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis. | 15111592 | 2004 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. | 15531312 | 2004 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. | 14597039 | 2003 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. | 11413411 | 2001 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. | 10837380 | 2000 | |||||
Lattice corneal dystrophy Type I
|
0.740 | GeneticVariation | UNIPROT | A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. | 9799082 | 1998 |