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Standards Ontologies Notations
Guidelines
MIRAGE
autism spectrum disorder

Summary
Definition
A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
Super Class
pervasive developmental disorder
Disease Ontology
DOID:0060041
Mondo Disease Ontology
MeSH
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 14 in total
Gene ID Gene Symbol Description Source
553 AVPR1B arginine vasopressin receptor 1B
1312 COMT catechol-O-methyltransferase
1859 DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A
3676 ITGA4 integrin subunit alpha 4
4128 MAOA monoamine oxidase A
4318 MMP9 matrix metallopeptidase 9
10458 BAIAP2 BAR/IMD domain containing adaptor protein 2
23191 CYFIP1 cytoplasmic FMR1 interacting protein 1
26047 CNTNAP2 contactin associated protein 2
53335 BCL11A BCL11 transcription factor A
Displaying entries 1 - 10 of 44 in total
Gene ID Gene Symbol Description Source
11444 Chrnb2 cholinergic receptor nicotinic beta 2 subunit
12041 Bckdk branched chain ketoacid dehydrogenase kinase
12322 Camk2a calcium/calmodulin-dependent protein kinase II alpha
12387 Ctnnb1 catenin beta 1
13385 Dlg4 discs large MAGUK scaffold protein 4
14042 Ext1 exostosin glycosyltransferase 1
14402 Gabrb3 GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3
14810 Grin1 glutamate receptor, ionotropic, NMDA1 (zeta 1)
15567 Slc6a4 solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
16440 Itpr3 inositol 1,4,5-triphosphate receptor 3
Displaying all 4 entries
Gene ID Gene Symbol Description Source
60391 Nrxn1 neurexin 1
81646 Creb1 cAMP responsive element binding protein 1
171093 Shank2 SH3 and multiple ankyrin repeat domains 2
171297 Nlgn3 neuroligin 3
Displaying all 7 entries
Gene ID Gene Symbol Description Source
33185 kis kismet
35652 Dscam1 Down syndrome cell adhesion molecule 1
36849 DAT Dopamine transporter
38736 sfl sulfateless
39118 LanB2 Laminin B2
39387 Nrx-IV Neurexin IV
40133 ash1 absent, small, or homeotic discs 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
172732 mef-2 MEF2 transcription factor homolog
181484 nlg-1 Carboxylesterase type B domain-containing protein;Neuroligin-1
Displaying 1 entry
Gene ID Gene Symbol Description Source
855760 SEC12 Sar family guanine nucleotide exchange factor SEC12
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P11655 Guanine nucleotide-exchange factor SEC12
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 4, 2025