rs80358192, COL8A2

N. diseases: 6
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fleck corneal dystrophy
CUI: C1562113
Disease: Fleck corneal dystrophy
0.020 GeneticVariation BEFREE In the L450W mutant, Descemet's membrane was several times thicker than normal and traversed by refractile strands and blebs that stained intensely for COL8A2, a feature also observed in late-onset FCD. 16303941 2005
Fleck corneal dystrophy
CUI: C1562113
Disease: Fleck corneal dystrophy
0.020 GeneticVariation BEFREE The profile of age and disease severity for the L450W FCD kindred suggested that disease onset occurred in infancy, compared with an average age of onset of 50 years estimated for 201 familial FCD patients in 62 other families. 15914606 2005