autism Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (Human Disease Ontology, DOID_12849)
Similar Terms
Downloads & Tools

Genes

248 genes associated with the disease autism in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
AANAT aralkylamine N-acetyltransferase
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ADA adenosine deaminase
ADORA2A adenosine A2a receptor
ADRB2 adrenoceptor beta 2, surface
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AGRN agrin
AHI1 Abelson helper integration site 1
ALDH3A1 aldehyde dehydrogenase 3 family, member A1
ALDOA aldolase A, fructose-bisphosphate
APBA2 amyloid beta (A4) precursor protein-binding, family A, member 2
APOE apolipoprotein E
AR androgen receptor
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ASMT acetylserotonin O-methyltransferase
ATP10A ATPase, class V, type 10A
AUTS1 Autism, susceptibility to, 1
AUTS5 Autism, susceptibility to, 5
AVPR1A arginine vasopressin receptor 1A
AVPR1B arginine vasopressin receptor 1B
BDNF brain-derived neurotrophic factor
BZRAP1 benzodiazepine receptor (peripheral) associated protein 1
C4B complement component 4B (Chido blood group)
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CALCRL calcitonin receptor-like
CCDC148 coiled-coil domain containing 148
CD38 CD38 molecule
CDH10 cadherin 10, type 2 (T2-cadherin)
CDH13 cadherin 13
CDH9 cadherin 9, type 2 (T1-cadherin)
CGA glycoprotein hormones, alpha polypeptide
CNR1 cannabinoid receptor 1 (brain)
CNTNAP2 contactin associated protein-like 2
CNTNAP5 contactin associated protein-like 5
COMT catechol-O-methyltransferase
CPA2 carboxypeptidase A2 (pancreatic)
CSRNP3 cysteine-serine-rich nuclear protein 3
CUX2 cut-like homeobox 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A cytochrome P450, family 3, subfamily A
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DAO D-amino-acid oxidase
DAOA D-amino acid oxidase activator
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
DHCR7 7-dehydrocholesterol reductase
DLGAP2 discs, large (Drosophila) homolog-associated protein 2
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DOC2A double C2-like domains, alpha
DOCK4 dedicator of cytokinesis 4
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD4 dopamine receptor D4
EIF1AY eukaryotic translation initiation factor 1A, Y-linked
EN2 engrailed homeobox 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAM120C family with sequence similarity 120C
FEZF1 FEZ family zinc finger 1
FMNL2 formin-like 2
FMR1 fragile X mental retardation 1
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXP2 forkhead box P2
FSHB follicle stimulating hormone, beta polypeptide
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRA6 gamma-aminobutyric acid (GABA) A receptor, alpha 6
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRG1 gamma-aminobutyric acid (GABA) A receptor, gamma 1
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GCH1 GTP cyclohydrolase 1
GCHFR GTP cyclohydrolase I feedback regulator
GLO1 glyoxalase I
GPX1 glutathione peroxidase 1
GRIK2 glutamate receptor, ionotropic, kainate 2
GRM8 glutamate receptor, metabotropic 8
GRPR gastrin-releasing peptide receptor
GSTM1 glutathione S-transferase mu 1
H2AFY H2A histone family, member Y
HIRIP3 HIRA interacting protein 3
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA1 homeobox A1
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HTR1B 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTR3A 5-hydroxytryptamine (serotonin) receptor 3A, ionotropic
HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic
HTR6 5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
ING3 inhibitor of growth family, member 3
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KDM4C lysine (K)-specific demethylase 4C
LAMB4 laminin, beta 4
LDLRAD3 low density lipoprotein receptor class A domain containing 3
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LHFPL3 lipoma HMGIC fusion partner-like 3
MACROD2 MACRO domain containing 2
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MAPK3 mitogen-activated protein kinase 3
MARK1 MAP/microtubule affinity-regulating kinase 1
MAZ MYC-associated zinc finger protein (purine-binding transcription factor)
MCM7 minichromosome maintenance complex component 7
MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MET MET proto-oncogene, receptor tyrosine kinase
MFSD6 major facilitator superfamily domain containing 6
MKL2 MKL/myocardin-like 2
MOG myelin oligodendrocyte glycoprotein
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTNR1A melatonin receptor 1A
MTNR1B melatonin receptor 1B
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NEUROG1 neurogenin 1
NF1 neurofibromin 1
NGF nerve growth factor (beta polypeptide)
NGFR nerve growth factor receptor
NLGN1 neuroligin 1
NLGN3 neuroligin 3
NLGN4X neuroligin 4, X-linked
NLGN4Y neuroligin 4, Y-linked
NOS1 nitric oxide synthase 1 (neuronal)
NOS2 nitric oxide synthase 2, inducible
NOSTRIN nitric oxide synthase trafficking
NRCAM neuronal cell adhesion molecule
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NTF3 neurotrophin 3
NTF4 neurotrophin 4
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
OMG oligodendrocyte myelin glycoprotein
OPRM1 opioid receptor, mu 1
OSBPL6 oxysterol binding protein-like 6
OXT oxytocin/neurophysin I prepropeptide
OXTR oxytocin receptor
PAH phenylalanine hydroxylase
PAX6 paired box 6
PCBD1 pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha
PHF8 PHD finger protein 8
PITX1 paired-like homeodomain 1
PLD5 phospholipase D family, member 5
PON1 paraoxonase 1
POR P450 (cytochrome) oxidoreductase
POU6F2 POU class 6 homeobox 2
PPP4C protein phosphatase 4, catalytic subunit
PRKCB protein kinase C, beta
PRL prolactin
PRLR prolactin receptor
PTCHD1 patched domain containing 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1
PTS 6-pyruvoyltetrahydropterin synthase
QDPR quinoid dihydropteridine reductase
RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4
RELN reelin
RIMS3 regulating synaptic membrane exocytosis 3
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RPL10 ribosomal protein L10
SCN2A sodium channel, voltage gated, type II alpha subunit
SCP2 sterol carrier protein 2
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEZ6L2 seizure related 6 homolog (mouse)-like 2
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHBG sex hormone-binding globulin
SHMT1 serine hydroxymethyltransferase 1 (soluble)
SLC13A1 solute carrier family 13 (sodium/sulfate symporter), member 1
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMO smoothened, frizzled class receptor
SND1 staphylococcal nuclease and tudor domain containing 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
STK39 serine threonine kinase 39
STS steroid sulfatase (microsomal), isozyme S
STX1A syntaxin 1A (brain)
SULT2A1 sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TAC1 tachykinin, precursor 1
TAF1C TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa
TAOK2 TAO kinase 2
TAS2R1 taste receptor, type 2, member 1
TBL1Y transducin (beta)-like 1, Y-linked
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TH tyrosine hydroxylase
TNF tumor necrosis factor
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TSPAN12 tetraspanin 12
TSPO translocator protein (18kDa)
TYR tyrosinase
UBE3A ubiquitin protein ligase E3A
UPP2 uridine phosphorylase 2
VEGFA vascular endothelial growth factor A
VGF VGF nerve growth factor inducible
VIPR1 vasoactive intestinal peptide receptor 1
VWA8 von Willebrand factor A domain containing 8
WFS1 Wolfram syndrome 1 (wolframin)
WNK3 WNK lysine deficient protein kinase 3
WNT2 wingless-type MMTV integration site family member 2
XIRP2 xin actin binding repeat containing 2
YWHAB tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta
ZNF385B zinc finger protein 385B