CRYAA, crystallin alpha A, 1409

N. diseases: 40; N. variants: 18
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE A novel mutation in the CRYAA gene associated with congenital cataract and microphthalmia in a Chinese family. 30340470 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Two mutations at arginine 21 in the N-terminal domain of αA-crystallin - αA-R21L and αA-R21W have been associated with congenital cataract. 29782825 2018
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Mutation analyses of CC candidate genes by next-generation sequencing (NGS) and Sanger sequencing revealed a novel missense mutation in CRYBB2 (p.V146L) and a deletion mutation in CRYAA (p.116_118del). 29259299 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE TA of CRYAB gene might increase congenital cataract risk in children, while GCG of CRYAA gene and GC of CRYAB gene might decrease congenital cataract risk in children. 28640093 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE A novel disease-causing mutation, c.246_248delCGC (p.117delR), of the CRYAA gene has been identified in a Chinese family with autosomal-type perinuclear congenital cataracts. 25729975 2015
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. 23441109 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease BEFREE These results provide evidence that CRYAA is a pathogenic gene for congenital cataracts, congenital cataracts are a clinically and genetically heterogeneous lens condition; at the same time, demonstrates a possible mechanism of action for the mutant gene. 20465443 2010
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 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: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 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: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 GeneticVariation disease BEFREE Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. 16453125 2006
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: 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: 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: 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: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease MGD Chromosomal localization of a new mouse lens opacity gene (lop18) 8812430 1996
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 Biomarker disease GENOMICS_ENGLAND