Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 Biomarker 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
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 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
0.090 Biomarker disease BEFREE One of the proteins involved is transforming growth factor β-induced protein (TGFBIp), an extracellular matrix component that interacts with integrins but also produces corneal deposits when mutated. 28988748 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 GeneticVariation disease BEFREE Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene. 22155582 2012
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 Biomarker disease BEFREE We also find that the periostin-TGFBI interaction is disrupted in corneal fibroblasts cultured from granular corneal dystrophy type II patients and that periostin accumulates in TGFBI-positive corneal deposits in granular corneal dystrophy type II (also known as Avellino corneal dystrophy). 19478074 2009
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 GeneticVariation disease BEFREE Six patients with exacerbation of granular corneal deposits after LASIK were examined for TGFBI mutations by polymerase chain reaction sequencing of DNA. 15019320 2004
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 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
0.090 GeneticVariation disease BEFREE To investigate corneal deposits associated with kerato-epithelin (KE) in three corneal dystrophies harboring mutations at Arg-124 in the BIGH3 gene. 11262611 2000
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.090 Biomarker disease BEFREE To characterize the relation of the beta ig-h3 protein to the diagnostic corneal deposits in the hereditary corneal dystrophies recently shown to have mutations in the beta ig-h3 gene on chromosome 5q31. 9930162 1999
Entrez Id: 10631
Gene Symbol: POSTN
POSTN
0.010 Biomarker disease BEFREE We also find that the periostin-TGFBI interaction is disrupted in corneal fibroblasts cultured from granular corneal dystrophy type II patients and that periostin accumulates in TGFBI-positive corneal deposits in granular corneal dystrophy type II (also known as Avellino corneal dystrophy). 19478074 2009
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 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