CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.600 CausalMutation disease CLINVAR
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.600 Biomarker disease GENOMICS_ENGLAND A de novo paradigm for mental retardation. 21076407 2010
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.600 GeneticVariation disease UNIPROT A de novo paradigm for mental retardation. 21076407 2010
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.600 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
CUI: C4539848
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.600 GeneticVariation disease UNIPROT Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017