CIC, capicua transcriptional repressor, 23152

N. diseases: 141; N. variants: 10
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 GeneticVariation disease UNIPROT Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. 28288114 2017
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 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 CausalMutation disease CLINVAR
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
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 GeneticVariation group BEFREE Ewing sarcoma is the prototype of round cell sarcoma whereas in CIC sarcomas, focal pleomorphism and epithelioid morphology can predominate. 31802230 2020
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE BCOR-rearranged sarcomas, CIC-fused sarcomas) and describes new groups with common characteristics. 30474142 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 GeneticVariation group BEFREE Results were compared to methylation data of 30 EwS with various EWSR1-ETS fusions and one EwS with FUS-ERG fusion, 16 URCS with CIC rearrangement and 10 URCS with BCOR alteration and a total of 81 EWSR1-associated soft tissue sarcomas including 7 angiomatoid fibrous histiocytomas, 7 clear cell sarcomas of the soft tissue, 28 desmoplastic small round cell tumors, 10 extraskeletal myxoid chondrosarcomas and 29 myxoid liposarcomas. 30895378 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE CIC fusion-positive sarcoma of the spermatic cord. 30310990 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE The diagnosis of sarcoma with CIC-DUX4 gene fusion is difficult in lack of specific pathological characteristics emphasizing the need for molecular analysis. 28466754 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 GeneticVariation group BEFREE Primitive round- or spindle-cell EWSR1-negative undifferentiated sarcomas harboring CIC-DUX4 gene fusion are the most common form of Ewing-like sarcomas. 28474974 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE In light of morphologic features that overlap with those of NC from typical anatomical sites we have seen previously, the tumor was best classified as falling within the NC spectrum rather than CIC-associated sarcoma. 29700887 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE The CIC-DUX4 sarcoma is a small round blue cell sarcoma which presents like extraskeletal Ewing sarcoma, but is negative for the EWSR1 gene translocation. 30353686 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE Herein, we describe the clinicopathologic features and comprehensive molecular profiling of 4 cases of primary renal CIC-rearranged sarcomas. 29901569 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE Unsupervised clustering by RNAseq data revealed that tumors with BCOR genetic alterations, including BCOR-CCNB3, BCOR-MAML3, and BCOR ITD, formed a tight genomic group distinct from ES and CIC-rearranged sarcomas. 29300189 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE CIC-rearrangement by FISH was observed in many of the CIC-rearranged sarcomas. 29661713 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE Heterogeneous elements included a myxoid spindle cell component in three BCOR-CCNB3 sarcomas and an epithelioid cell component in two CIC-associated sarcomas (one CIC-DUX4-positive and one CIC-DUX4-negative sarcomas). 28197724 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE In conclusion, NKX2.2, ETV4 and BCOR IHC may be helpful in daily practice for distinguishing ESFT from CIC or BCOR-associated sarcomas, especially in hospitals without access to molecular assays. 28864350 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 GeneticVariation group BEFREE We recognized the tumor as a genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion. 28188754 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE We estimated that the FISH false-negative rate for CIC-rearranged sarcomas was 14%. 28493604 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.400 Biomarker group BEFREE No PAX7 expression was observed in any of 27 cases of CIC-DUX4 sarcoma by immunohistochemistry (0%; 0/27). 28643791 2017