CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
0.110 GeneticVariation disease 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
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris
0.110 Biomarker disease HPO