CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
Disease: CATARACT 4, MULTIPLE TYPES ×
Source: ALL
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 Biomarker disease MGD V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice. 12226711 2002
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: C3540850
Disease: CATARACT 4, MULTIPLE TYPES
CATARACT 4, MULTIPLE TYPES 		0.900 CausalMutation disease CLINVAR