CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
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
dbSNP: rs112808618
rs112808618
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1555773554
rs1555773554
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0026827
Disease:
Muscle hypotonia 		GA 0.700 CausalMutation CLINVAR Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. 28263302 2017
dbSNP: rs1555773554
rs1555773554
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0026827
Disease:
Muscle hypotonia 		GA 0.700 CausalMutation CLINVAR Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
dbSNP: rs1555773554
rs1555773554
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0026827
Disease:
Muscle hypotonia 		GA 0.700 CausalMutation CLINVAR Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. 24307393 2014
dbSNP: rs1555773554
rs1555773554
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0026827
Disease:
Muscle hypotonia 		GA 0.700 CausalMutation CLINVAR A de novo paradigm for mental retardation. 21076407 2010
dbSNP: rs1135401823
rs1135401823
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1135401824
rs1135401824
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		GCAAGAGAC 0.700 CausalMutation CLINVAR
dbSNP: rs1135401825
rs1135401825
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555769968
rs1555769968
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C4539848
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 45 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568503055
rs1568503055
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0751396
Disease:
Well Differentiated Oligodendroglioma 		CT 0.700 GeneticVariation CLINVAR
dbSNP: rs1568504941
rs1568504941
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0334590
Disease:
Anaplastic Oligodendroglioma 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs770323488
rs770323488
Entrez Id: 23152
Gene Symbol: CIC
CIC
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT