CRYGD, crystallin gamma D, 1421

N. diseases: 168; N. variants: 18
Disease: Cataract ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein. 31422822 2019
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts. 26732753 2016
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE Crystal structure of the cataract-causing P23T γD-crystallin mutant. 23670788 2013
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin. 22669729 2012
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained. 19275895 2009
dbSNP: rs28931605
rs28931605
Entrez Id: 1421;100507443
Gene Symbol: CRYGD;LOC100507443
CRYGD;LOC100507443
CUI: C0086543
Disease:
Cataract 		0.060 GeneticVariation BEFREE Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. 15709761 2005