Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.460 | Biomarker | disease | HPO | |||||||
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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 | ||||
|
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 | ||||
|
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 | ||||
|
0.460 | GeneticVariation | disease | BEFREE | Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin. | 16303126 | 2006 | ||||
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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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 |