Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE We determined that the severe phenotype of granular corneal dystrophy is caused by homozygous mutations in the kerato-epithelin gene. 9727509 1998
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene. 12709742 2003
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2). 29196743 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2). 21311742 2011
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history. 28377594 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE Different types of granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) are associated with mutations in the transforming growth factor beta induced gene (TGFBI). 22155582 2012
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain. 24129074 2013
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients. 18465714 2008
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy. 11189007 2001
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE These results strongly suggest that the allelic homogeneity of TGFBI associated corneal dystrophies (ACD, lattice corneal dystrophy types I and III, granular corneal dystrophy and Reis-Bucklers dystrophy) might not be caused by mutation hot spots but by the founder effects. 17096061 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. 28060069 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE KC can co-exist with GCD.The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD. 28567551 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. 15377440 2004
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations. 15623763 2005
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy. 10865320 2000
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy. 9930165 1999
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation. 19933198 2010
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. 9744382 1998
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy. 14576527 2003
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. 10425035 1999
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE This study was undertaken to identify beta ig-h3 gene mutations in Japanese patients with granular corneal dystrophy (GCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), and Reis-Bücklers' corneal dystrophy (RBCD). 10832717 2000
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE In this report, we identify the genetic defect on the TGFBI gene in a Vietnamese family with atypical GCD . 12782158 2003
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 GeneticVariation disease BEFREE This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better elucidating the pathomechanism of two conditions arising from the most common TGFBI mutations: granular corneal dystrophy type 1 (GCD1; R555W) and lattice corneal dystrophy type 1 (LCD1; R124C). 26207300 2015
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 GeneticVariation disease BEFREE Screening all 17 exons of TGFB1 in the proband identified a single missense mutation (C1710T) in exon 12, consistent with the diagnosis of granular corneal dystrophy. 14576527 2003
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 GeneticVariation disease BEFREE Genetic analysis revealed mutation of TGF beta-1 located on 5q31 which was consistent with our clinical diagnosis of GCD. 29943099 2019