Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C3809686
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 		disease 0.700 moderate 1.000 0 5 2011 2017
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 6 1 2008 2017
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 6 1 2008 2017
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 6 1 2008 2017
Entrez Id: 10664
Gene Symbol: CTCF
CTCF 		CCCTC-binding factor 0.504 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 6 4 2008 2017