CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 AlteredExpression group BEFREE Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. 27550844 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human A de novo paradigm for mental retardation. 21076407 2010
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO