CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Disease: Mental Retardation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 Biomarker disease BEFREE Furthermore, loss of δ-catenin is related to the deficits of learning and memory, mental retardation (cri-du-chat syndrome), and autism. 30981806 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 GeneticVariation disease BEFREE Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. 16953888 2006
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.030 AlteredExpression disease BEFREE These findings and the properties of delta-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy. 10673328 2000