CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: CATARACT, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 23508780 2013
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. 18407550 2008
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). 18302245 2008
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 14512969 2003
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
dbSNP: rs74315439
rs74315439
Entrez Id: 1409;107987300
Gene Symbol: CRYAA;LOC107987300
CRYAA;LOC107987300
CUI: C1858679
Disease:
CATARACT, AUTOSOMAL DOMINANT 		T 0.800 CausalMutation CLINVAR