Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.030 Biomarker disease BEFREE <b>Background:</b> Transforming growth factor-beta-induced (TGFBI) is an exocrine protein, which has been found to be able to promote the development of nasopharyngeal carcinoma, glioma, pancreatic cancer, and other tumors. 31440088 2019
CUI: C0017638
Disease: Glioma
Glioma
0.030 Biomarker disease BEFREE <b>Background:</b> Transforming growth factor-beta-induced (TGFBI) is an exocrine protein, which has been found to be able to promote the development of nasopharyngeal carcinoma, glioma, pancreatic cancer, and other tumors. 31440088 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 AlteredExpression disease BEFREE <b>Conclusions</b>: TGFBI overexpression can promote OSCC and is associated with poor prognosis in OSCC patients. 31598162 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.100 Biomarker phenotype BEFREE <sup>1</sup> has identified a novel androgen-mediated signaling axis driven by loss of SPDEF and gain of TGFBI to facilitate metastasis, which may explain the acquisition of resistance to androgen deprivation therapy. 29757697 2018
CUI: C0271288
Disease: Corneal guttata
Corneal guttata
0.010 GeneticVariation disease BEFREE Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. 10611102 2000
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
0.800 GeneticVariation disease BEFREE Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene. 17096061 2007
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
Familial Amyloid Polyneuropathy, Type V
0.200 GeneticVariation disease BEFREE Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. 20357204 2010
CUI: C0025202
Disease: melanoma
melanoma
0.040 Biomarker disease BEFREE Melanomas without chronic sun-induced damage (Non-CSD) were more likely (P<0.01) to show BRAF mutations while NRAS mutation frequency was unbiased between melanoma subtypes. 21788131 2012
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: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 GeneticVariation disease BEFREE Corneal dystrophy-related mutations are more likely to disrupt the interaction of TGFBI with critical binding proteins than affect the whole protein structure. 22605926 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 AlteredExpression group BEFREE Cancer-specific survival was significantly better for patients with no cytoplasmic TGFBI expression (1-, 3-, 5-y cancer-specific survival of 94.7%, 87.8%, and 73.4% vs. 92.9%, 71.2%, and 49.8%, respectively; P<0.0001). 25035170 2015
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 AlteredExpression group BEFREE Cancer-specific survival was significantly better for patients with no cytoplasmic TGFBI expression (1-, 3-, 5-y cancer-specific survival of 94.7%, 87.8%, and 73.4% vs. 92.9%, 71.2%, and 49.8%, respectively; P<0.0001). 25035170 2015
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
0.010 Biomarker disease BEFREE Renal fibrosis in nephrectomized rats and profibrotic transforming growth factor-β-induced epithelial-mesenchymal transition (EMT) and ERK1/2 activation in NRK-52E cells were suppressed by sh-periostin. 31127625 2019
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.010 Biomarker phenotype BEFREE Visual loss is significantly greater in CDB I, and recurrences after keratoplasty or keratectomy seem to be earlier and more extensive in CDB I. 7671605 1995
CUI: C1690006
Disease: Lattice corneal dystrophy Type I
Lattice corneal dystrophy Type I
0.800 GeneticVariation disease BEFREE Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca. 9559741 1998
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 GeneticVariation disease BEFREE BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies. 10798644 2000
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 Biomarker disease BEFREE BIGH3 gene analysis in the differential diagnosis of corneal dystrophies. 11189007 2001
CUI: C4551463
Disease: Colon adenoma
Colon adenoma
0.010 Biomarker disease BEFREE Transforming growth factor-beta-induced growth inhibition in a Smad4 mutant colon adenoma cell line. 11196171 2001
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.210 AlteredExpression group BEFREE Beta(ig)-H3 protein expression was identified in distal convoluted tubular epithelium and parietal glomerular epithelium in CyAN, and not in nephrectomy samples. 11740395 2001
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 GeneticVariation disease BEFREE BetaIG-H3 is a TGF-beta-induced cell adhesion molecule, the mutations of which are responsible for a group of 5q31-linked corneal dystrophies. 11867580 2002
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 GeneticVariation disease BEFREE BIGH3 mutation spectrum in corneal dystrophies. 11923233 2002
CUI: C0339278
Disease: Reis-Bucklers' corneal dystrophy
Reis-Bucklers' corneal dystrophy
0.800 Biomarker disease BEFREE Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bücklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels. 12942051 2003
CUI: C0010035
Disease: Hereditary corneal dystrophy
Hereditary corneal dystrophy
0.020 GeneticVariation disease BEFREE TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. 15564760 2005
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy
0.200 GeneticVariation disease BEFREE TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. 15623763 2005