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Standards Ontologies Notations
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 145 in total
Gene ID Gene Symbol Description Source
21 ABCA3 ATP binding cassette subfamily A member 3
553 AVPR1B arginine vasopressin receptor 1B
627 BDNF brain derived neurotrophic factor
815 CAMK2A calcium/calmodulin dependent protein kinase II alpha
987 LRBA LPS responsive beige-like anchor protein
1072 CFL1 cofilin 1
1105 CHD1 chromodomain helicase DNA binding protein 1
1106 CHD2 chromodomain helicase DNA binding protein 2
1141 CHRNB2 cholinergic receptor nicotinic beta 2 subunit
1312 COMT catechol-O-methyltransferase
Displaying entries 1 - 10 of 102 in total
Gene ID Gene Symbol Description Source
11444 Chrnb2 cholinergic receptor nicotinic beta 2 subunit
12041 Bckdk branched chain ketoacid dehydrogenase kinase
12064 Bdnf brain derived neurotrophic factor
12322 Camk2a calcium/calmodulin-dependent protein kinase II alpha
12387 Ctnnb1 catenin beta 1
12388 Ctnnd1 catenin delta 1
12631 Cfl1 cofilin 1, non-muscle
12846 Comt catechol-O-methyltransferase
13162 Slc6a3 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
13385 Dlg4 discs large MAGUK scaffold protein 4
Displaying entries 21 - 30 of 53 in total
Gene ID Gene Symbol Description Source
60391 Nrxn1 neurexin 1
78957 Shank1 SH3 and multiple ankyrin repeat domains 1
81518 Mef2d myocyte enhancer factor 2D
81527 Nrp2 neuropilin 2
81574 Scn1a sodium voltage-gated channel alpha subunit 1
81646 Creb1 cAMP responsive element binding protein 1
81687 Mmp9 matrix metallopeptidase 9
84008 Cntnap1 contactin associated protein 1
84353 Ctnnb1 catenin beta 1
84556 Rims1 regulating synaptic membrane exocytosis 1
Displaying entry 21 - 21 of 21 in total
Gene ID Gene Symbol Description Source
43616 aralar1 aralar1
Displaying all 10 entries
Gene ID Gene Symbol Description Source
286832 lamc1 laminin, gamma 1
497279 ext1a exostosin glycosyltransferase 1a
497280 ext1b exostosin glycosyltransferase 1b
561372 comta catechol-O-methyltransferase a
565370 comtb catechol-O-methyltransferase b
570459 ndst1b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b
793524 ndst2a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2a
798226 ndst2b N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2b
100317129 ndst3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3
100329944 ndst1a N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a
Displaying all 8 entries
Gene ID Gene Symbol Description Source Organism
397839 itga4.S integrin subunit alpha 4 S homeolog Xenopus laevis (African clawed frog)
448238 cadm2 cell adhesion molecule 2 Xenopus tropicalis (tropical clawed frog)
448393 ext1 exostosin glycosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
496577 ndst1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 Xenopus tropicalis (tropical clawed frog)
100036631 lamc1 laminin subunit gamma 1 Xenopus tropicalis (tropical clawed frog)
100145653 ndst3 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 Xenopus tropicalis (tropical clawed frog)
100217321 ndst2 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 Xenopus tropicalis (tropical clawed frog)
100380006 ndst4 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 Xenopus tropicalis (tropical clawed frog)
Displaying entries 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
178167 nlr-1 Neurexin like receptor 1
179991 zmp-4 Hemopexin;Peptidase metallopeptidase domain-containing protein
180349 grd-2 Ground-like domain-containing protein
180351 W01F3.2 Uncharacterized protein
180638 wrt-6 Warthog protein 6 N-product
180980 lam-2 Laminin-like protein lam-2
181484 nlg-1 Carboxylesterase type B domain-containing protein;Neuroligin-1
184471 ntr-2 Nematocin receptor 2
188227 ntr-1 G-protein coupled receptors family 1 profile domain-containing protein;Nematocin receptor 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
852066 NHX1 bifunctional K:H/Na:H antiporter NHX1
853300 YAK1 serine/threonine protein kinase YAK1
853770 BUD2 GTPase-activating protein BUD2
855760 SEC12 Sar family guanine nucleotide exchange factor SEC12
856382 STE20 mitogen-activated protein kinase kinase kinase kinase STE20
856911 CHD1 chromatin-remodeling ATPase CHD1
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Acknowledgements

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

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Last updated: December 9, 2024