Disease: Coloboma of iris ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coloboma of iris
CUI: C0240063
Disease: Coloboma of iris
0.010 GeneticVariation BEFREE To our knowledge, this is the first case to date in which an Arg116Cys mutation in the CRYAA gene was associated with nuclear cataract and iris coloboma. 17296897 2007