Disease: Corneal Dystrophy, Lattice Type IIIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation 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
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation UNIPROT Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin. 15790870 2005
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation BEFREE In contrast to Japanese patients, these French patients affected with LCDIIIA carry a distinct mutation of the betaig-h3 gene (A546T instead of P501T). 10682981 2000
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation BEFREE Amyloid and Pro501Thr-mutated (beta)ig-h3 protein accumulate and colocalize in LCD-IIIA. 10218700 1999
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		0.830 GeneticVariation UNIPROT A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA. 9497262 1998
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1837974
Disease:
Corneal Dystrophy, Lattice Type IIIA 		A 0.830 CausalMutation CLINVAR