Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.700 Biomarker disease CTD_human
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 GeneticVariation disease UNIPROT SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 24132240 2013
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. 24132240 2013
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 ChromosomalRearrangement disease ORPHANET A copy number variation morbidity map of developmental delay. 21841781 2011
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN Adult restoration of Shank3 expression rescues selective autistic-like phenotypes. 26886798 2016
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism. 27161151 2016
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Shank3 Gene. 30302388 2019
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		0.400 GeneticVariation disease UNIPROT De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. 20385823 2010
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations. 29719671 2018
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease 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
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.320 Biomarker group CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.320 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.300 Biomarker group CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. 16284256 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease CLINGEN Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. 25188300 2014