Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE Collectively, our results reveal a critical role of SHANK3 in the development of prefrontal anatomy and function, and suggest that SHANK3 deficiency may predispose to intellectual disability and socio-communicative impairments via dysregulation of higher-order cortical connectivity.<b>SIGNIFICANCE STATEMENT</b> Mutations in the synaptic scaffolding protein SHANK3 are commonly associated with autism, intellectual, and language deficits. 31061091

2019

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation 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

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation 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

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 AlteredExpression BEFREE Deletions and point mutations in SHANK3 cause Phelan-McDermid Syndrome (PMS), and have also been implicated in autism spectrum disorder (ASD) and intellectual disabilities, leading to the hypothesis that reduced SHANK3 expression impairs basic brain functions that are important for social communication and cognition. 27189882

2017

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Furthermore, a significant number of SHANK3 mutations have been identified in patients with autism spectrum disorders (ASD), and SHANK3 truncating mutations are associated with moderate to profound ID. 27021819

2017

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. 28754298

2017

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Mutations/deletions in the SHANK3 gene are associated with autism spectrum disorders and intellectual disability. 27492494

2017

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging findings, or EEG findings were present in the majority of individuals with SHANK3 mutations. 27554343

2016

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker 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

2015

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Here, we present the first report of a female patient with RTT-like phenotype caused by SHANK3 (SH3 and multiple ankylin repeat domain 3) mutation, indicating that the clinical spectrum of SHANK3 mutations may extend to RTT-like phenotype in addition to (severe) developmental delay, absence of expressive speech, autistic behaviors and intellectual disability. 25931020

2015

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation 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

2014

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation 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

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability. 22509352

2012

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Genetic mutations of SHANK3 have been reported in patients with intellectual disability, autism spectrum disorder (ASD) and schizophrenia. 21606927

2012

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 GeneticVariation BEFREE Although SHANK2 and SHANK3 mutations have been implicated in ASD and intellectual disability, the involvement of SHANK1 is unknown. 22503632

2012

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay. 18523453

2008

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker LHGDN Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker CTD_human Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker BEFREE Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. 16284256

2006

Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.500 Biomarker HPO