rs121909209, TGFBI

N. diseases: 9
Disease: Avellino corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.020 GeneticVariation BEFREE R124H, R124C, R555W, and R555Q mutations have been reported in Europe to cause ACD, LCD type I, GCD, and RBCD, respectively. 10832717 2000
Avellino corneal dystrophy
CUI: C1275685
Disease: Avellino corneal dystrophy
0.020 GeneticVariation BEFREE All subjects recruited exhibited a range of corneal dystrophies, including Thiel-Behnke corneal dystrophy (TBCD, R555Q; 6 families and 4 individuals), granular corneal dystrophy type 2 (GCD2, R124H; 61 families and 80 individuals), lattice corneal dystrophy (LCD; 4 families and 5 individuals; 7 with type 1 [R124C], and 2 with a variant [L527R, P542R]). 22876129 2012