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 CausalMutation disease CLINVAR Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. 28298635 2017
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 GermlineCausalMutation disease ORPHANET A CRYGC gene mutation associated with autosomal dominant pulverulent cataract. 23954869 2013
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 CausalMutation disease CLINVAR A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 19204787 2009
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: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 Biomarker disease MGD A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.820 GermlineCausalMutation disease ORPHANET A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
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 Biomarker disease CTD_human
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. 24281366 2014
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens. 22052681 2012
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 22876111 2012
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 Biomarker disease MGD A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation disease UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291 1999
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 CausalMutation disease CLINVAR
CUI: C4721890
Disease: CATARACT 2, MULTIPLE TYPES
CATARACT 2, MULTIPLE TYPES 		0.800 Biomarker disease GENOMICS_ENGLAND
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