Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder. 29408620 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. 28179641 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Recent studies have strongly implicated postsynaptic scaffolding proteins such as SAPAP3 or Shank3 in the pathogenesis of various mood disorders, including autism spectrum disorder, bipolar disorder (BD), and obsessive-compulsive disorders. 27530683 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller's dementia infantilis, a rare subtype of autism spectrum disorder. 26489495 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE There also appears to be contributions of genes in both deleted and preserved SHANK3 regions to the ASD phenotype and other neurobehavioral impairments. 26306707 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 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 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE We found that gene expression of mGluR5 was significantly decreased in ASD versus controls (p=0.018) as well as downstream elements SHANK3 (p=0.005) and PLCB1 (p=0.009) but that the pro-inflammatory marker NOS2 was increased (p=0.047). 26052099 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE SH3 and multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological features of Phelan-McDermid syndrome (PMDS), including a high risk of autism spectrum disorder (ASD). 26847545 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE The SHANK3 pathway may also be relevant to other forms of ASD, and many of the single-gene causes of ASD identified to date appear to converge on several common molecular pathways that underlie synaptic neurotransmission. 25894671 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. 25131214 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder. 25646853 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Evidence for communication deficits was obtained in Shank1, Shank2, and Shank3 genetic mouse models for ASD, often paralleled by behavioral phenotypes relevant to social deficits seen in ASD. 24726578 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice. 25188300 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population. 24398551 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE SHANK3 is one of the genes that underpins the synaptic hypothesis for ASD. 24218108 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders. 24186872 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE SHANK3 as an autism spectrum disorder-associated gene. 22749736 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. 23468870 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Rare mutations in SHANK3 have been associated with idiopathic ASDs, non-syndromic intellectual disability, and schizophrenia. 24132240 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE Recent human genetic studies indicate that SHANK family genes (SHANK1, SHANK2, and SHANK3) are causative genes for idiopathic autism spectrum disorders (ASD). 23583105 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. 22892527 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Shank/ProSAP proteins are major scaffold proteins of the postsynaptic density; mutations in the human SHANK3 gene are associated with intellectual disability or autism spectrum disorders. 23897824 2013
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 GeneticVariation disease BEFREE Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. 22503632 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.500 Biomarker disease BEFREE The present study indicates that SHANK3 may not be a critical gene for the etiology of ASDs in Han Chinese population. 21575668 2011