Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene. 30302388

2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. 29719671

2018
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Shank3 is localized in axons and presynaptic specializations of developing hippocampal neurons and involved in the modulation of NMDA receptor levels at axon terminals. 26725465

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. 27161151

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. 26886798

2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID. 26045941

2015
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 25188300

2014
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. 23758760

2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 24132240

2013
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. 21606927

2012
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker CLINGEN Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. 11431708

2001