BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
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 		0.110 GeneticVariation disease BEFREE In this report we demonstrate the novel findings of four newly identified variants in BCOR associated with an OFCD phenotype, and suggest that the frequency of this condition in females presenting with congenital cataract, including unilateral cataract, is more common than anticipated. 31048080 2020
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.110 CausalMutation disease CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016