BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Unilateral cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521706
Disease: Unilateral cataract
Unilateral cataract 		0.010 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