BRD4, bromodomain containing 4, 23476

N. diseases: 335; N. variants: 6
Disease: Abnormality of the face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.300 Biomarker phenotype GENOMICS_ENGLAND Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome. 30302754 2019