CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Nuclear cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0392557
Disease:
Nuclear cataract 		0.020 GeneticVariation 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
dbSNP: rs397515624
rs397515624
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0392557
Disease:
Nuclear cataract 		0.020 GeneticVariation BEFREE In conclusion, we report a novel nonsense mutation (Y56X) in CRYGD and a previously reported missense mutation (R12C) in CRYAA associated with nuclear cataract in Brazilian families. 19390652 2009
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C0392557
Disease:
Nuclear cataract 		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