CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Disease: Cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE Taken together, these results indicate that a novel γC-crystallin p.Gly129Cys mutation impaired the tertiary structure of the protein and caused cataract formation, which provides a new insight into how the mutation may affect the γC-crystallin structure, stability, and function. 22052681 2012
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE The p.R48H variation in γC-crystallin may disrupt the normal structure of lens and can cause cataract. 21423869 2011
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease LHGDN The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family. 19204787 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE The present study has identified a novel nonsense mutation in CRYGC associated with autosomal dominant cataracts and microcornea in a Chinese family. 19204787 2009
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease LHGDN A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype. 18618005 2008
CUI: C0086543
Disease: Cataract
Cataract 		0.460 GeneticVariation disease BEFREE Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin. 16303126 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease BEFREE To our knowledge, these findings are the first evidence of an involvement of CRYGC and support the role of CRYGD in human cataract formation. 10521291 1999
CUI: C0086543
Disease: Cataract
Cataract 		0.460 Biomarker disease HPO