Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931604
rs28931604
CRYGC ; LOC100507443
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
CRYGC ; LOC100507443
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
CRYGC ; LOC100507443
0.700 GeneticVariation UNIPROT Crystallin gene mutations in Indian families with inherited pediatric cataract. 18587492

2008
dbSNP: rs28931604
rs28931604
CRYGC ; LOC100507443
0.700 GeneticVariation UNIPROT Alteration of protein-protein interactions of congenital cataract crystallin mutants. 12601044

2003
dbSNP: rs28931604
rs28931604
CRYGC ; LOC100507443
0.700 GeneticVariation UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157

2002
dbSNP: rs28931604
rs28931604
CRYGC ; LOC100507443
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
CRYGC ; LOC100507443
0.700 GeneticVariation UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291

1999