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: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 GermlineCausalMutation disease ORPHANET Molecular genetics of congenital nuclear cataract. 24384146 2014
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 GermlineCausalMutation disease ORPHANET A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family. 24074001 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 GeneticVariation disease BEFREE The rest one, a heterozygous c.34C>T (p.Arg12Cys) mutation in CRYAA, was identified in three patients from a family with nuclear cataract, microcornea with axial elongation. 21686328 2011
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 GermlineCausalMutation disease ORPHANET Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. 19390652 2009
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 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: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.520 Biomarker disease GENOMICS_ENGLAND