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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 71 - 80 of 102 in total
Gene ID Gene Symbol Description Source
107767 Scamp1 secretory carrier membrane protein 1
108100 Baiap2 brain-specific angiogenesis inhibitor 1-associated protein 2
109151 Chd9 chromodomain helicase DNA binding protein 9
110876 Scn2a sodium channel, voltage-gated, type II, alpha
114873 Dscaml1 DS cell adhesion molecule like 1
116837 Rims1 regulating synaptic membrane exocytosis 1
116838 Rims2 regulating synaptic membrane exocytosis 2
170571 Cntnap4 contactin associated protein-like 4
192167 Nlgn1 neuroligin 1
210274 Shank2 SH3 and multiple ankyrin repeat domains 2
Displaying entries 1 - 10 of 53 in total
Gene ID Gene Symbol Description Source
24225 Bdnf brain-derived neurotrophic factor
24267 Comt catechol-O-methyltransferase
24408 Grin1 glutamate ionotropic receptor NMDA type subunit 1
24553 Met MET proto-oncogene, receptor tyrosine kinase
24629 Pdgfrb platelet derived growth factor receptor beta
24766 Scn2a sodium voltage-gated channel alpha subunit 2
24898 Slc6a3 solute carrier family 6 member 3
24922 Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3
24949 Syn1 synapsin I
25187 Htr2c 5-hydroxytryptamine receptor 2C
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 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
172105 unc-38 Acetylcholine receptor subunit alpha-type unc-38
172150 unc-63 Acetylcholine receptor subunit alpha-type unc-63
172732 mef-2 MEF2 transcription factor homolog
175182 ver-1 Protein ver-1
176304 dat-1 Sodium-dependent dopamine transporter
176691 gab-1 Gamma-aminobutyric acid receptor subunit beta
177078 lad-2 Ig-like domain-containing protein;Neuroglian
177602 sax-7 Fibronectin type-III domain-containing protein;Neuroglian
177675 hst-1 Heparan sulfate N-sulfotransferase 1
178080 rib-1 Exostosin-1 homolog
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