CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Multigenerational autosomal dominant inheritance of 5p chromosomal deletions. 26601658 2016
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Loss of δ-catenin function in severe autism. 25807484 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR CTNND2 deletion and intellectual disability. 25839933 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR CTNND2-a candidate gene for reading problems and mild intellectual disability. 25473103 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414 2014
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH. 15733271 2005
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR Dual regulation of neuronal morphogenesis by a delta-catenin-cortactin complex and Rho. 12835311 2003