Disease: Corneal dystrophy ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE TGFBI gene mutations in Brazilian patients with corneal dystrophy. 16440005 2007
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE TGFBI gene mutations in corneal dystrophies. 16683255 2006
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 Biomarker disease BEFREE TGFBI sequencing analysis showed c.Arg124Cys in all 6 lattice CD patients, c.Arg555Glu in all 11 granular CD type 1 patients, and c.Arg124His in 22 of 25 granular CD type 2 patients. 22850414 2012
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 Biomarker disease BEFREE TGFBI-associated corneal dystrophies are characterized by accumulation of insoluble deposits of the mutant protein transforming growth factor β-induced protein (TGFBIp) in the cornea. 25557343 2015
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Transforming growth factor beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide. 26207300 2015
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE TGFBI gene mutations were present in all three Chinese families with corneal dystrophy, and our study further verified the relationship between phenotype and genotype of corneal dystrophy. 27348782 2016
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 Biomarker disease BEFREE TGFBI-associated corneal dystrophies are inherited disorders caused by TGFBI gene variants that promote deposition of mutant protein (TGFBIp) as insoluble aggregates in the cornea. 28689406 2017
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. 9054935 1997
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families. 17768377 2007
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 Biomarker disease BEFREE A 28-year-old woman with a presumed TGFBI corneal dystrophy, but who retained best corrected visual acuity of 20/20 in each eye, underwent myopic laser-assisted in-situ keratomileusis (LASIK) both eyes (OU). 17317389 2007
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. 19019446 2009
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 Biomarker disease BEFREE A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. 14502125 2003
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE A novel L558P mutation in the TGFBI gene causes an atypical type of stromal CD. 19221447 2009
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. 18728790 2008
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Amyloid and non-amyloid forms of 5q31-linked corneal dystrophy resulting from kerato-epithelin mutations at Arg-124 are associated with abnormal turnover of the protein. 10753964 2000
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature. 20664689 2010
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. 15377440 2004
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 GeneticVariation disease BEFREE Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. 11024425 2000
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.200 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