CTCF, CCCTC-binding factor, 10664

N. diseases: 186; N. variants: 13
Disease: Multiple congenital anomalies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR CTCF: insights into insulator function during development. 22354838 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR CTCF: master weaver of the genome. 19563753 2009
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation group CLINVAR The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome. 18654629 2008