CRYGC, crystallin gamma C, 1420

N. diseases: 60; N. variants: 13
Disease: Congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. 28298635 2017
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates. 26165230 2015
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE In the present study, we described a family with pulverulent congenital cataract that segregated the c.143G>A mutation (p.R48H) in the CRYGC gene. 23954869 2013
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE Our finding expands the spectrum of CRYGC mutations associated with congenital cataract and confirms the role of gamma-crystallin in the pathogenesis of congenital nuclear cataracts. 19204787 2009
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE In the present study, we described a family with nuclear congenital cataract that segregated the CRYGC missense mutation c.502C>T. 17679936 2007
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 Biomarker disease MGD A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse. 11773036 2002
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.360 GeneticVariation disease BEFREE CRYGC (T5P) is one of the many gamma-crystallin mutant genes for autosomal dominant congenital cataracts. 11904153 2002