Disease: Schizophrenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE Shank3, a postsynaptic scaffolding protein involved in regulating excitatory synapse assembly and function, has been implicated in several brain disorders, including autism spectrum disorders (ASD), Phelan-McDermid syndrome, schizophrenia, intellectual disability, and mania. 31275112 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID). 30537371 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 AlteredExpression disease BEFREE Mutations or altered protein levels of SHANK3 are implicated in neurodevelopmental disorders such as Phelan-McDermid syndrome, autism spectrum disorders, and schizophrenia (Guilmatre et al., 2014). 29735556 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE To investigate whether variants in the SHANK3 gene contribute to the etiology of SCZ, we sequenced SHANK3 in 500 affected individuals (cohort C1). 28371232 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE In this "<i>Perspectives</i>" article, we review and comment on current advances in Shank3 research and include some original data that show common Shank3 deficits in a number of seemingly unrelated human neurological disorders that include sporadic Alzheimer's disease (AD), autism spectrum disorder (ASD), bipolar disorder (BD), Phelan-McDermid syndrome (PMS; 22q13.3 deletion syndrome), and schizophrenia (SZ). 29321759 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE To characterize the zinc-induced Shank3 interactome, we performed various bioinformatic analyses that revealed significant associations of the interactome with subcellular compartments, including mitochondria, and brain disorders, such as bipolar disorder and schizophrenia. 29111324 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease MGD We characterized two lines of mutant mice with Shank3 mutations linked to ASD and schizophrenia. 26687841 2016
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE We conclude that miR-7 binds to 3-prime untranslated regions of SHANK3 mRNA and causes the alteration of neuronal morphology and function, potentially playing a crucial role in the pathophysiological process of schizophrenia. 25882257 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE The SHANK3 gene encoding core scaffolding proteins at glutamatergic postsynapse is a typical dosage-sensitive gene, both deletions and duplications of which are associated with Phelan-McDermid syndrome, autism spectrum disorders, bipolar disorder, intellectual disability, or schizophrenia. 26572867 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease BEFREE SHANK3 has been described in the Phelan-McDermid syndrome (PMS), but also in autism spectrum disorders (ASD) and schizophrenia associated to moderate to severe intellectual disability (ID) and poor language. 24124131 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE Rare mutations in SHANK3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia. 24132240 2013
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia. 21606927 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE Recently, two de novo mutations in SHANK3 were described in schizophrenia patients. 21901269 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 GeneticVariation disease BEFREE As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders. 20385823 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease CTD_human
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease HPO