Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0271288
Disease:
Corneal guttata 		0.020 GeneticVariation BEFREE Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation. 10611102 2000
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation BEFREE Avellino corneal dystrophy associated with the R124H mutation is the most common form of corneal stromal dystrophy in Japan. 11024425 2000
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation 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
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.030 GeneticVariation 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
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation 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
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation BEFREE Granular corneal dystrophy type 2 (GCD2) is caused by a point mutation (R124H) in the transforming growth factor β-induced (TGFBI) gene. 27373828 2016
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.900 GeneticVariation 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
dbSNP: rs1052006472
rs1052006472
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.040 GeneticVariation BEFREE H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people. 12770961 2003
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.900 GeneticVariation BEFREE R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people. 12770961 2003
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.900 GeneticVariation BEFREE Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763 2005
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0018179
Disease:
Granular Dystrophy, Corneal 		0.020 GeneticVariation BEFREE Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied. 15623763 2005
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0010036
Disease:
Corneal dystrophy 		0.070 GeneticVariation BEFREE R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families. 17768377 2007
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1275685
Disease:
Avellino corneal dystrophy 		0.900 GeneticVariation BEFREE R124H mutation was detected in all patients with GCD2. 25034048 2015
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0018179
Disease:
Granular Dystrophy, Corneal 		0.100 GeneticVariation BEFREE R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China. 28377594 2017
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0544848
Disease:
Dystrophy, granular 		0.040 GeneticVariation BEFREE Arg124His mutation of the betaig-h3 gene was found in a pedigree with granular dystrophy. 9603385 1998
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.900 GeneticVariation BEFREE Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I. 9886734 1999
dbSNP: rs121909215
rs121909215
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0010036
Disease:
Corneal dystrophy 		0.020 GeneticVariation BEFREE A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype. 19019446 2009
dbSNP: rs121909210
rs121909210
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.900 GeneticVariation BEFREE A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, and L527R in LCD with opacities deep in stroma. 11095060 2000
dbSNP: rs121909209
rs121909209
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339278
Disease:
Reis-Bucklers' corneal dystrophy 		0.040 GeneticVariation BEFREE A R555Q mutation was detected in the patients with RBCD. 11095060 2000
dbSNP: rs121909208
rs121909208
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1641846
Disease:
Groenouw corneal dystrophy type I (disorder) 		0.850 GeneticVariation BEFREE A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. 17982422 2007
dbSNP: rs121909208
rs121909208
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C4700127
Disease:
Thiel-behnke 		0.010 GeneticVariation BEFREE A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy. 17982422 2007
dbSNP: rs121909211
rs121909211
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0339278
Disease:
Reis-Bucklers' corneal dystrophy 		0.880 GeneticVariation BEFREE A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy. 21899585 2012
dbSNP: rs121909209
rs121909209
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1562894
Disease:
Thiel-Behnke corneal dystrophy 		0.840 GeneticVariation BEFREE A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. 18259096 2008
dbSNP: rs199604416
rs199604416
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0271287
Disease:
Schnyder crystalline corneal dystrophy 		0.010 GeneticVariation BEFREE A further novel mutation c.393G > T(p.Glu131Asp) in exon 4 of the TGFBI gene was detected in all three affected members of one family with superficial cloud- and honeycomb-like opacifications, comparable to a Schnyder corneal dystrophy. 26961680 2016
dbSNP: rs200201691
rs200201691
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.020 GeneticVariation BEFREE A novel Val624Met homozygous mutation in TGFBI was associated with atypical LCD in two family members. 18385782 2008