Disease: Schnyder crystalline corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.010 GeneticVariation disease BEFREE A further novel mutation c.393G > T(p.Glu131Asp) in exon 4 of the TGFBI gene was detected in all three affected members of one family with superficial cloud- and honeycomb-like opacifications, comparable to a Schnyder corneal dystrophy. 26961680 2016