Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE To identify the types of <i>TGFBI</i> (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy. 30805211 2019
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation. 29192679 2018
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE In granular corneal dystrophy type 2 (GCD2), corneal deposits containing fragments of transforming growth factor-β-induced protein appear in sequence as granular lesions (GLs), linear lesions (LLs), and diffuse haze (DH). 29443809 2018
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 Biomarker disease BEFREE LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp). 26864644 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 AlteredExpression disease BEFREE Treatment with 4-PBA considerably reduced the levels of BiP, IRE1α, and XBP1 in GCD2 cells; notably, 4-PBA treatment significantly reduced the levels of TGFBIp without change in TGFBI mRNA levels. 27373828 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE From the results, we conclude that our toehold-mediated, DNA displacement-based, SERS sensor allows a rapid and sensitive detection of a BIGH3 gene point mutation associated with Avellino corneal dystrophy, indicating the practical ability of the method to diagnose genetic diseases caused by point mutations. 27934116 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 Biomarker disease BEFREE Transforming growth factor-β (TGF-β)-induced gene (TGFBI) protein (TGFBIp) is associated with granular corneal dystrophy type 2 (GCD2). 26915797 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 Biomarker disease BEFREE We review our current understanding of the molecular mechanisms of granular corneal dystrophy type 2 (GCD2) and studies of other TGFBI corneal dystrophies. 26612778 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE A potential strategy for preventing cytoplasmic accumulation of mutant-TGFBIp in GCD2 corneal fibroblasts is to enhance mutant-TGFBIp degradation. 26386150 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 AlteredExpression disease BEFREE TGFβ1-induced expression of transforming growth factor β-induced protein (TGFBIp) and extracellular matrix (ECM) genes plays a major role in the development of granular corneal dystrophy type 2 (GCD2: also called Avellino corneal dystrophy). 26553048 2015
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE The diagnosis of GCD2 was confirmed by transforming growth factor β-induced (TGFBI) gene analysis using direct sequencing in exon 4 of TGFBI gene. 25034048 2015
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 Biomarker disease BEFREE Inhibitory Effect of Tranilast on Transforming Growth Factor-Beta-Induced Protein in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts. 26020822 2015
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2. 26197481 2015
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease caused by a R124H point mutation in the transforming growth factor-β-induced gene (TGFBI). 22374302 2012
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GermlineCausalMutation disease ORPHANET We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype. 22815629 2012
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype. 22815629 2012
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients with granular corneal dystrophy type 2 (GCD2) with a homozygous mutation in TGFBI R124H. 21310903 2011
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2. 21311742 2011
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12. 21462384 2011
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI, and four LCD I subjects were all associated with R124C heterozygous mutation. 21887843 2011
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Point mutations of the BIGH3 gene are associated with the most common corneal dystrophies (CDs), such as Avellino corneal dystrophy, Reis-Bucklers corneal dystrophy, and lattice corneal dystrophy. 20092310 2010
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy. 20458218 2010
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE An additional feature of nonhyaline, nonamyloid, TGFBIp subepithelial deposits might substantiate the categorization of such cases as a variant form of ACD. 20697279 2010
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 Biomarker disease BEFREE Granular corneal dystrophy type II (GCD II) is an autosomal dominant disorder characterized by age-dependent progressive accumulation of transforming growth factor-beta-induced protein (TGFBIp) deposits in the corneal stroma. 19497990 2009
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations. 19145249 2009