rs1555535739, CTCF

N. diseases: 3
Disease: Dysmorphic features ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR CTCF: insights into insulator function during development. 22354838 2012
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR CTCF: master weaver of the genome. 19563753 2009
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome. 18654629 2008