CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Disease: Heterotopic Ossification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification 		0.300 Biomarker phenotype 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