CTNND2, catenin delta 2, 1501

N. diseases: 117; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.140 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: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.140 GeneticVariation disease BEFREE Here we study the effects of Li<sup>+</sup> in cultured hippocampal neurons on a synaptic complex consisting of δ-catenin, a protein associated with cadherins whose mutation is linked to autism, and GRIP, an AMPA receptor (AMPAR) scaffolding protein, and the AMPAR subunit, GluA2. 27793771 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.140 Biomarker disease BEFREE This study supports newly recognized effects of aberrant SEMA5A and CTNND2 dosage on severity of autistic and cognitive phenotypes. 26601658 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.140 Biomarker disease BEFREE Loss of δ-catenin function in severe autism. 25807484 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.140 GeneticVariation disease GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012