Disease: Keratoconus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Keratoconus
CUI: C0022578
Disease: Keratoconus
0.010 GeneticVariation BEFREE Four carriers of three BCS1-associated ZNF469 loss-of-function mutations (p.[Glu1392Ter], p.[Gln1930Argfs*6], p.[Gln1930fs*133]) were examined and none had keratoconus. 25564447 2015