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 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.500 Biomarker group 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
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: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.330 Biomarker disease CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0023012
Disease: Language Delay
Language Delay 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		0.300 Biomarker group CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C0751257
Disease: Auditory Processing Disorder, Central
Auditory Processing Disorder, Central 		0.300 Biomarker disease CTD_human Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. 17173049 2007
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 Biomarker disease CTD_human 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.500 Biomarker disease CTD_human Identifying autism loci and genes by tracing recent shared ancestry. 18621663 2008