CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 GeneticVariation disease BEFREE Further analysis of the original Coppock-like-cataract family identified a missense mutation in a highly conserved segment of exon 2 of CRYGC. 10521291 1999
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 GeneticVariation 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 2008
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 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 BEFREE Lenticular chaperones suppress the aggregation of the cataract-causing mutant T5P gamma C-crystallin. 16303126 2006
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: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE In the present study, we described a family with nuclear congenital cataract that segregated the CRYGC missense mutation c.502C>T. 17679936 2007
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates. 26165230 2015
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE In the present study, we described a family with pulverulent congenital cataract that segregated the c.143G>A mutation (p.R48H) in the CRYGC gene. 23954869 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. 28298635 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Our finding expands the spectrum of CRYGC mutations associated with congenital cataract and confirms the role of gamma-crystallin in the pathogenesis of congenital nuclear cataracts. 19204787 2009
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE CRYGC (T5P) is one of the many gamma-crystallin mutant genes for autosomal dominant congenital cataracts. 11904153 2002
CUI: C1833118
Disease: Cataract, Pulverulent
Cataract, Pulverulent 		0.310 GeneticVariation disease BEFREE A CRYGC gene mutation associated with autosomal dominant pulverulent cataract. 23954869 2013
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		0.310 GeneticVariation disease BEFREE A few mutations have been described in the CRYGC gene in autosomal dominant cataract, none of them with pulverulent cataract making clear the clinical heterogeneity of congenital cataract. 23954869 2013
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 GeneticVariation disease BEFREE In this study, we showed that the G129C mutation in γC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. 26165230 2015
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 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
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		0.130 GeneticVariation disease BEFREE In this study, we identified a novel, heterozygous c.385G<T mutation in CRYGC that resulted in the substitution of a highly conserved glycine by cysteine at codon 129 (p.Gly129Cys) in a three-generation Chinese family with autosomal dominant congenital nuclear cataract by sequencing candidate genes. 22052681 2012
CUI: C0266544
Disease: Microcornea
Microcornea 		0.110 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: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.030 Biomarker disease BEFREE We aimed to evaluate whether the combination of circulating biomarkers of CCL [the carboxy-terminal telopeptide of collagen type I to matrix metalloproteinase-1 ratio (CITP : MMP-1)] and CD [the carboxy-terminal propeptide of procollagen type I (PICP)] identifies myocardial fibrosis phenotypes with distinct clinical outcome in hypertensive patients with heart failure. 28253222 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.030 Biomarker disease BEFREE A combination of circulating biomarkers associated with excessive myocardial collagen type-I cross-linking or CCL+ (i.e., decreased carboxy-terminal telopeptide of collagen type-I to matrix metalloproteinase-1 ratio) and with excessive myocardial collagen type-I deposition or CD+ (i.e., increased carboxy-terminal propeptide of procollagen type-I) has been described in heart failure (HF) patients and associates with poor outcomes. 30922470 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.030 AlteredExpression disease BEFREE In conclusion, decreased miR-19b may be involved in myocardial LOX up-regulation and excessive CCL, and consequently increased LV stiffness in AS patients, namely in those with HF. 28091585 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 AlteredExpression group BEFREE CCL18 is a member of CCL chemokines and is frequently overexpressed in cancer. 26242263 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 Biomarker group BEFREE Secondary thresholds of Gleason ≥4 + 3, Ahmed/UCL1 (Gleason ≥4 + 3 or maximum cancer core length [CCL] ≥6 or total CCL≥6) and Ahmed/UCL2 (Gleason ≥3 + 4 or maximum CCL ≥4 or total CCL ≥6) were also used. 31599113 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 Biomarker disease BEFREE Investigation of apoptotic effect of juglone on CCL-228-SW 480 colon cancer cell line. 30880757 2019