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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 11 - 14 of 14 in total
Gene ID Gene Symbol Description Source
55777 MBD5 methyl-CpG binding domain protein 5
93986 FOXP2 forkhead box P2
114785 MBD6 methyl-CpG binding domain protein 6
253559 CADM2 cell adhesion molecule 2
Displaying entries 21 - 30 of 44 in total
Gene ID Gene Symbol Description Source
21375 Tbr1 T-box brain transcription factor 1
21411 Tcf20 transcription factor 20
26422 Nbea neurobeachin
56710 Brinp1 bone morphogenic protein/retinoic acid inducible neural specific 1
58234 Shank3 SH3 and multiple ankyrin repeat domains 3
64930 Tsc1 TSC complex subunit 1
66797 Cntnap2 contactin associated protein-like 2
67772 Chd8 chromodomain helicase DNA binding protein 8
70530 Lrfn2 leucine rich repeat and fibronectin type III domain containing 2
72145 Wdfy3 WD repeat and FYVE domain containing 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