COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Disease: Fleck corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 Biomarker disease BEFREE This study also provides the first direct evidence that COL8A2-FCD progresses from early to late stages in 25 years, a rate similar to that estimated for late-onset FCD. 15914606 2005
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		0.020 GeneticVariation disease 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