Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
0.010 GeneticVariation BEFREE This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W</span> mutation in the CRYGC gene. 17679936 2007