Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 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 2015
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Mutations in ASD-associated SHANK3 in mice (Shank3B<sup>-/-</sup>) result in the accelerated maturation of corticostriatal circuits during the second and third postnatal weeks. 31722214 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 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
0.700 GeneticVariation disease BEFREE Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder. 29377611 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE The unified idea on the molecular pathogenesis of Autism Spectrum Disorder (ASD) is still unknown although mutations in genes encoding neuroligins and SHANK3 have been shown in a small part of the patients. 18957284 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China. 24398551 2014
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. 18252227 2008
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Mutations in the SHANK3 gene have been linked to neuropsychiatric disorders especially the autism spectrum disorders. 29327340 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE As ASD-associated SHANK3 mutations retain responsiveness to zinc, here we investigated how increasing levels of dietary zinc could alter behavioral and synaptic deficits that occur with ASD. 30405356 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability. 27492494 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Here we generated and characterized a <i>Shank3</i> knock-in mouse line carrying the Q321R mutation (<i>Shank3</i><sup>Q321R</sup> mice) identified in a human individual with ASD that affects the ankyrin repeat region (ARR) domain of the Shank3 protein. 31275112 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. 31319798 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Although a number of mouse models with Shank3 mutations have been valuable for investigating the pathogenesis of ASD, species-dependent differences in behaviors and brain structures post considerable challenges to use small animals to model ASD and to translate experimental therapeutics to the clinic. 30329048 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Together with these findings, we have identified maternal genetic effects not previously identified in ASD at a locus in SHANK3 on chromosome 22 and a locus in WBSCR17 on chromosome 7 (associated with Williams syndrome). 27876814 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Mutation in the SHANK3 human gene leads to different neuropsychiatric diseases including Autism Spectrum Disorder (ASD), intellectual disabilities and Phelan-McDermid syndrome. 29988084 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Deletions and mutations in the SHANK3 gene are strongly associated with autism spectrum disorder and underlie the autism-associated disorder Phelan-McDermid syndrome. 30064494 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 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
0.700 GeneticVariation disease BEFREE To assess whether deletion of Shank3 in mice results in ASD-like behavior, we conducted a battery of behavioral experiments to characterize Shank3B<sup>-/-</sup> mice, including repetitive grooming behavior tests, three-chamber tests and resident-intruder tests. 30809159 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 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
0.700 GeneticVariation disease BEFREE Introduction of this human ASD mutation into mice resulted in a small subset of phenotypes seen previously in constitutive Shank3 knockout mice, including increased allogrooming, increased social dominance, and reduced pup USV. 30610205 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Haploinsufficiency of the SHANK3 gene is causally linked to autism spectrum disorder (ASD), and ASD-associated genes are also enriched for chromatin remodelers. 29531362 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. 17999366 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE If Shank3 mutations are found to affect anesthetic sensitivity in patients with ASD, better communication and stricter monitoring of anesthetic depth may be necessary. 27856360 2018
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.700 GeneticVariation disease BEFREE Mutation or disruption of the SH3 and ankyrin repeat domains 3 (SHANK3) gene represents a highly penetrant, monogenic risk factor for autism spectrum disorder, and is a cause of Phelan-McDermid syndrome. 31189958 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
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