CRYGD, crystallin gamma D, 1421

N. diseases: 13; N. variants: 9
Disease: Coralliform cataract ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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