CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Cataract, Autosomal Recessive Congenital 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease MGD AlphaA-crystallin R49Cneo mutation influences the architecture of lens fiber cell membranes and causes posterior and nuclear cataracts in mice. 19619312 2009
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease 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
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: 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: 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: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease MGD Chromosomal localization of a new mouse lens opacity gene (lop18) 8812430 1996
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		0.500 Biomarker disease GENOMICS_ENGLAND