CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373584239
rs373584239
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.800 GeneticVariation UNIPROT Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
dbSNP: rs373584239
rs373584239
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		0.800 GeneticVariation UNIPROT A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs373584239
rs373584239
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		T 0.800 CausalMutation CLINVAR