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: 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 Biomarker disease BEFREE A unique TGFBI protein in granular corneal dystrophy types 1 and 2. 22746317 2012
Entrez Id: 1263
Gene Symbol: PLK3
PLK3
0.010 GeneticVariation disease BEFREE Among 24 clinical GCD patients, the proportion of R124H, R555Q, R124L, R555W and R124C were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively, and 2 patients had been diagnosed with GCD according to the opacities thriving after LASIK (R124H) and PRK (R555W). 28377594 2017
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 Biomarker disease BEFREE Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q. 8044658 1994
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 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 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: 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
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 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 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 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: 3859
Gene Symbol: KRT12
KRT12
0.010 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 AlteredExpression disease BEFREE Levels of TGFBI and LC3 were significantly increased in GCD patients. 29679546 2018
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 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 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: 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 The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients. 9744382 1998
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 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 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: 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