CTCF, CCCTC-binding factor, 10664

N. diseases: 186; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255516
rs879255516
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C3809686
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		0.800 GeneticVariation UNIPROT De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs879255516
rs879255516
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C3809686
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1555534067
rs1555534067
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555534067
rs1555534067
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555534147
rs1555534147
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555534147
rs1555534147
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. 28619046 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
dbSNP: rs1555534067
rs1555534067
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555534147
rs1555534147
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555534189
rs1555534189
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555535739
rs1555535739
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR De novo mutations in the genome organizer CTCF cause intellectual disability. 23746550 2013
dbSNP: rs1555534067
rs1555534067
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR CTCF: insights into insulator function during development. 22354838 2012
dbSNP: rs1555534147
rs1555534147
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR CTCF: insights into insulator function during development. 22354838 2012