CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Disease: Bone Diseases, Developmental ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.300 Biomarker group CTD_human Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome. 17022082 2006