CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 22876111 2012
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation 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
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291 1999
dbSNP: rs137853924
rs137853924
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1553585262
rs1553585262
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C1852438
Disease:
CATARACT, COPPOCK-LIKE 		GC 0.700 CausalMutation CLINVAR Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. 28298635 2017
dbSNP: rs587778872
rs587778872
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C0009691
Disease:
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs864309689
rs864309689
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C0009691
Disease:
Congenital cataract 		A 0.700 CausalMutation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 22876111 2012
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation 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
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. 22876111 2012
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation 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
dbSNP: rs1553585262
rs1553585262
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C1852438
Disease:
CATARACT, COPPOCK-LIKE 		GC 0.700 CausalMutation CLINVAR A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. 19204787 2009
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492 2008
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044 2003
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
dbSNP: rs28931604
rs28931604
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract. 10914683 2000
dbSNP: rs104893618
rs104893618
Entrez Id: 1420;100507443
Gene Symbol: CRYGC;LOC100507443
CRYGC;LOC100507443
CUI: C4721890
Disease:
CATARACT 2, MULTIPLE TYPES 		0.700 GeneticVariation UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291 1999