Source: MGD

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker MGD AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice. 19619312

2009
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker MGD Mechanism of small heat shock protein function in vivo: a knock-in mouse model demonstrates that the R49C mutation in alpha A-crystallin enhances protein insolubility and cell death. 18056999

2008
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker MGD Reduced survival of lens epithelial cells in the alphaA-crystallin-knockout mouse. 12584250

2003
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker MGD Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. 11687536

2001
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker 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
Entrez Id: 1409
Gene Symbol: CRYAA
CRYAA
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker MGD Chromosomal localization of a new mouse lens opacity gene (lop18) 8812430

1996
Entrez Id: 2700
Gene Symbol: GJA3
GJA3
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Connexin46fs380 causes progressive cataracts. 25103261

2014
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2. 23300808

2012
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. 12226711

2002
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. 11381063

2001
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract. 10704279

2000
Entrez Id: 2703
Gene Symbol: GJA8
GJA8
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts. 9813099

1998
Entrez Id: 1415
Gene Symbol: CRYBB2
CRYBB2
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.400 Biomarker MGD Philly mouse: a new model of hereditary cataract. 7363969

1980
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker MGD Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice. 12676560

2003
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker MGD Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse. 7333462

1981
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker MGD [Ultrastructural analysis of the effects of dominant cataract-Fr gene in mouse embryos]. 1026873

1976
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker MGD Cataracts and abnormal proliferation of the lens epithelium in mice carrying the CatFr gene. 5786866

1969
Entrez Id: 4284
Gene Symbol: MIP
MIP
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.390 Biomarker MGD Morphogenesis of the eye lens in a mouse strain with hereditary cataracts. 5716581

1968
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.380 Biomarker MGD p62 expression and autophagy in αB-crystallin R120G mutant knock-in mouse model of hereditary cataract. 23872361

2013
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 Biomarker MGD A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036

2002
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker MGD The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse. 12079281

2002
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker MGD A temperature-sensitive mutation of Crygs in the murine Opj cataract. 11121426

2001
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker MGD Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. 8812411

1996
Entrez Id: 1427
Gene Symbol: CRYGS
CRYGS
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.350 Biomarker MGD A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. 6877261

1983
Entrez Id: 4094
Gene Symbol: MAF
MAF
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.320 Biomarker MGD A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. 12620964

2003