Disease: Lattice corneal dystrophy Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation BEFREE As with other corneal dystrophies, this LCD subtype is also caused by a mutation (p. Leu527Arg) of the transforming growth factor, beta-induced (TGFBI) gene. 20357204 2010
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation BEFREE Clinical features and pathologic findings of the late-onset form of LCD with an L527R mutation in the TGFBI gene were made clear. 11413411 2001
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 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: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation BEFREE One patient with atypical LCD had an L527R mutation. 10832717 2000
dbSNP: rs1050842080
rs1050842080
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C1690006
Disease:
Lattice corneal dystrophy Type I 		0.740 GeneticVariation UNIPROT