BCOR, BCL6 corepressor, 54880

N. diseases: 314; N. variants: 21
Disease: Thalidomide embryopathy syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432365
Disease: Thalidomide embryopathy syndrome
Thalidomide embryopathy syndrome 		0.010 GeneticVariation disease BEFREE We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus. 15004558 2004