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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
External Links
- Disease Ontology
- DOID:0060041
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
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- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84181 | CHD6 | chromodomain helicase DNA binding protein 6 | |
| 84787 | KMT5C | lysine methyltransferase 5C | |
| 85445 | CNTNAP4 | contactin associated protein family member 4 | |
| 93986 | FOXP2 | forkhead box P2 | |
| 114785 | MBD6 | methyl-CpG binding domain protein 6 | |
| 129684 | CNTNAP5 | contactin associated protein family member 5 | |
| 140883 | ZNF280B | zinc finger protein 280B | |
| 144165 | PRICKLE1 | prickle planar cell polarity protein 1 | |
| 170463 | SSBP4 | single stranded DNA binding protein 4 | |
| 196500 | PIANP | PILR alpha associated neural protein |
| 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 |
| 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 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 38545 | nAChRbeta1 | nicotinic Acetylcholine Receptor beta1 | |
| 38736 | sfl | sulfateless | |
| 39118 | LanB2 | Laminin B2 | |
| 39387 | Nrx-IV | Neurexin IV | |
| 40133 | ash1 | absent, small, or homeotic discs 1 | |
| 40665 | Nmdar1 | NMDA receptor 1 | |
| 41247 | Syn | Synapsin | |
| 42918 | nAChRalpha1 | nicotinic Acetylcholine Receptor alpha1 | |
| 42919 | nAChRalpha2 | nicotinic Acetylcholine Receptor alpha2 | |
| 42920 | nAChRbeta2 | nicotinic Acetylcholine Receptor beta2 |
| 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 |
| 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) |
| 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 |
| 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 |
