Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease BEFREE A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. 22052681 2012
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease BEFREE The p.R48H variation in γC-crystallin may disrupt the normal structure of lens and can cause cataract. 21423869 2011
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 AlteredExpression disease BEFREE Transgenic expression of CRYGC5bpd mutant γC-crystallin results in nuclear cataracts in which lens fiber cells begin to show variable degrees of degeneration and vacuolization by postnatal day 21. 21436266 2011
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease LHGDN Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. 19204787 2009
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease BEFREE The human lens crystallin gene CRYGC T5P is associated with Coppock-like cataract and has a phenotype of a dust-like opacity of the fetal lens nucleus and deep cortical region. 18926820 2009
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease BEFREE A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 19204787 2009
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease BEFREE 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
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease LHGDN A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract. 18618005 2008
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 GeneticVariation disease BEFREE Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin. 16303126 2006
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease CTD_human A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease CTD_human A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 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
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease HPO
Entrez Id: 1420
Gene Symbol: CRYGC
CRYGC
0.680 Biomarker disease GENOMICS_ENGLAND