CRYGD, crystallin gamma D, 1421

N. diseases: 13; N. variants: 9
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. 21031598 2011
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease 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
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene. 16943771 2006
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761 2005
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. 12676897 2003
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. 12011157 2002
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Crystal cataracts: human genetic cataract caused by protein crystallization. 11371638 2001
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Molecular basis of a progressive juvenile-onset hereditary cataract. 10688888 2000
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography. 10915766 2000
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT The gamma-crystallins and human cataracts: a puzzle made clearer. 10521291 1999
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 Biomarker disease GENOMICS_ENGLAND Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 9927684 1999
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 GeneticVariation disease UNIPROT Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 9927684 1999
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 Biomarker disease CTD_human
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease CTD_human Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation. 30242128 2018
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease CTD_human Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. 9927684 1999
CUI: C0086543
Disease: Cataract
Cataract 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1852438
Disease: CATARACT, COPPOCK-LIKE
CATARACT, COPPOCK-LIKE 		0.500 GermlineCausalMutation disease ORPHANET Novel human CRYGD rare variant in a Brazilian family with congenital cataract. 21866214 2011
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		0.330 GermlineCausalMutation disease ORPHANET A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families. 21552497 2011
CUI: C1392104
Disease: Coralliform cataract
Coralliform cataract 		0.330 GermlineCausalMutation disease ORPHANET This is the first reported case of a congenital coralliform cataract phenotype associated with the mutation of Gly61Cys (P.G61C) in the CRYGD gene; it demonstrates a possible mechanism of action for the mutant gene. 18334953 2008
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.320 GermlineCausalMutation disease ORPHANET A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family. 26147294 2015
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.320 GermlineCausalMutation disease ORPHANET A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family. 26147294 2015
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.320 GermlineCausalMutation disease ORPHANET Molecular genetics of congenital nuclear cataract. 24384146 2014
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		0.320 GermlineCausalMutation disease ORPHANET Molecular genetics of congenital nuclear cataract. 24384146 2014
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.320 GermlineCausalMutation disease ORPHANET A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family. 21031598 2011