Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10664
Gene Symbol: CTCF
CTCF
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.460 Biomarker GENOMICS_ENGLAND By trio exome sequencing and subsequent mutational screening we now identified two de novo frameshift mutations and one de novo missense mutation in CTCF in individuals with intellectual disability, microcephaly, and growth retardation. 23746550

2013