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 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
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