Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation 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
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation 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
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation LHGDN Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 17724170

2007
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation 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