Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 Biomarker disease HPO
Entrez Id: 2875
Gene Symbol: GPT
GPT
0.010 Biomarker disease BEFREE The highest positive LOD score was 0.57 for linkage between glutamic pyruvic transaminase and granular corneal dystrophy. 2625210 1989
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.200 Biomarker disease BEFREE Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. 8044658 1994
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 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 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 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 Biomarker disease BEFREE Recently RBCD, together with lattice corneal dystrophy type I (LCDI), granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all mapped on 5q31, were found to be associated to four different mutations in the beta ig-h3 gene which codify for kerato-epithelin. 10660331 1998
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 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 Biomarker disease BEFREE To investigate mutations of the human transforming growth factor beta-induced gene (TGFBI), transforming growth factor-beta-induced gene product (betaig-h3, keratoepithelin), in Japanese patients with Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), granular corneal dystrophy (GCD), and Reis-Bücklers corneal dystrophy (RBCD). 11095060 2000
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: 30813
Gene Symbol: VSX1
VSX1
0.300 Biomarker disease CTD_human VSX1: a gene for posterior polymorphous dystrophy and keratoconus. 11978762 2002
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 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 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: 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: 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 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 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 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: 2335
Gene Symbol: FN1
FN1
0.010 Biomarker disease BEFREE Cell adhesion assays demonstrated that heterozygous and homozygous GCD II PCFs strongly attached to collagen-I, collagen-IV, fibronectin, and laminin, compared with wild-type cells.Conclusions. 19933198 2010
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 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