Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE In this study, we screened for polymorphisms in crystallin alpha A (CRYAA) and alpha B (CRYAB) genes in 200 patients over 40 years of age, diagnosed with age-related cataract (ARC; nuclear and cortical cataracts). 28146420 2017
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. 26542570 2015
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family. 24074001 2013
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE This is the first report relating a G→C mutation in CRYAA leading to congenital Y-suture cataract. 23288997 2012
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE Mutations in GJA8 and CRYAA were identified in three families with cataract and microcornea. 21686328 2011
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dominant congenital anterior polar cataracts in a Chinese family. 22065922 2011
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE This study identified a mutation in the CRYAA gene causing autosomal dominant nuclear cataracts and some patients show nystagmus or small blepharophimosis clinical features. 20465443 2010
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE Non-syndromic, hereditary human cataract development is linked to point mutations in the CRYAA and CRYAB genes which encode alphaA and alphaB-crystallin. 19860667 2009
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE It is expressed mainly in the lens - mutations in the Cryaa gene lead to recessive or dominant cataracts. 19007775 2009
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE The purpose of this study was to investigate the biological effects of the cataract-causing G98R mutation on the alphaA-crystallin (CRYAA) protein and to test the capability of chemical chaperone trimethylamine N-oxide (TMAO) to reverse such effects. 20029648 2009
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease LHGDN Cataract mutation P20S of alphaB-crystallin impairs chaperone activity of alphaA-crystallin and induces apoptosis of human lens epithelial cells. 18343237 2008
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE Homologous recombination in embryonic stem cells was performed using a plasmid containing the C to T transition in exon 1 of the cryaa gene. alphaA-R49C heterozygosity led to early cataracts characterized by nuclear opacities. 18056999 2008
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease LHGDN Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). 17937925 2007
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease LHGDN Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170 2007
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 Biomarker disease BEFREE Blood was taken from the proband and his parents, genomic DNA was isolated and some candidate genes for cataract (CRYAA, CRYBB2, GJA8) or macular hypoplasia (OA1, P) or both (PAX6) were analyzed. 16453125 2006
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease LHGDN The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract. 16735993 2006
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE It represents very likely the fourth dominant cataract-causing allele in CRYAA. 16862070 2006
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE The mutation observed in CRYAA in the present family highlights the phenotypic heterogeneity of the disorder in relation to the genotype, as an identical mutation has previously been reported in an American family with a different type of cataract. 16735993 2006
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 GeneticVariation disease BEFREE A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. 11006246 2000
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 Biomarker disease CTD_human Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
0.500 Biomarker disease HPO