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: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 Biomarker disease MGD Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. 9023351 1997
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease MGD Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. 9023351 1997
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease MGD Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin. 9023351 1997
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C0086543
Disease: Cataract
Cataract 		0.500 Biomarker disease CTD_human Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C0524524
Disease: Pseudoaphakia
Pseudoaphakia 		0.300 Biomarker disease CTD_human Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C1510497
Disease: Lens Opacities
Lens Opacities 		0.300 Biomarker phenotype CTD_human Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. 9467006 1998
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. 11123904 2000
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR Mutation of R116C results in highly oligomerized alpha A-crystallin with modified structure and defective chaperone-like function. 10684623 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.500 GeneticVariation disease BEFREE A nonsense mutation in the CRYAA gene causes autosomal recessive cataract in one family. 11006246 2000
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 Biomarker disease MGD Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. 11687536 2001
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease MGD Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. 11687536 2001
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease MGD Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. 11687536 2001
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 GeneticVariation group BEFREE Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy. 11857735 2002
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. 14512969 2003
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 Biomarker disease MGD Reduced survival of lens epithelial cells in the alphaA-crystallin-knockout mouse. 12584250 2003
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE The current study extends those findings to the following crystallin genes involved in some congenital cataracts: CRYAA (R116C), CRYAB (R120G), and CRYGC (T5P). 12601044 2003
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease MGD Reduced survival of lens epithelial cells in the alphaA-crystallin-knockout mouse. 12584250 2003
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease MGD Reduced survival of lens epithelial cells in the alphaA-crystallin-knockout mouse. 12584250 2003
CUI: C0029531
Disease: Other cataract
Other cataract 		0.200 Biomarker disease RGD Comparison of post-translational modifications of alpha A-crystallin from normal and hereditary cataract rats. 15042443 2004
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. 16735993 2006