CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
Disease: CATARACT 4, MULTIPLE TYPES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. 21031598 2011
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. 17564961 2007
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene. 16943771 2006
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761 2005
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. 12676897 2003
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Crystal cataracts: human genetic cataract caused by protein crystallization. 11371638 2001
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. 10915766 2000
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Molecular basis of a progressive juvenile-onset hereditary cataract. 10688888 2000
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291 1999
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		0.800 GeneticVariation UNIPROT Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 9927684 1999
dbSNP: rs121909596
rs121909596
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C3540850
Disease:
CATARACT 4, MULTIPLE TYPES 		T 0.800 CausalMutation CLINVAR