autism Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
Description A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old. (Experimental Factor Ontology, EFO_0003758)
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Genes

306 genes co-occuring with the biological term autism in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADA adenosine deaminase
ADH1A alcohol dehydrogenase 1A (class I), alpha polypeptide
ADH1B alcohol dehydrogenase 1B (class I), beta polypeptide
ADH1C alcohol dehydrogenase 1C (class I), gamma polypeptide
ADH4 alcohol dehydrogenase 4 (class II), pi polypeptide
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
ADH6 alcohol dehydrogenase 6 (class V)
ADH7 alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPQTL3 Circulating adiponectin QTL on chromosome 14
ADNP activity-dependent neuroprotector homeobox
ADRB2 adrenoceptor beta 2, surface
ADSL adenylosuccinate lyase
AFF2 AF4/FMR2 family, member 2
AFP alpha-fetoprotein
AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKRD11 ankyrin repeat domain 11
APC adenomatous polyposis coli
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
AQP4 aquaporin 4
AR androgen receptor
ARID1B AT rich interactive domain 1B (SWI1-like)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARX aristaless related homeobox
ASMT acetylserotonin O-methyltransferase
ATP10A ATPase, class V, type 10A
ATP1A1 ATPase, Na+/K+ transporting, alpha 1 polypeptide
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
AUTS1 Autism, susceptibility to, 1
AUTS2 autism susceptibility candidate 2
AUTS5 Autism, susceptibility to, 5
AVPR1A arginine vasopressin receptor 1A
BAIAP2 BAI1-associated protein 2
BCKDHA branched chain keto acid dehydrogenase E1, alpha polypeptide
BCL2 B-cell CLL/lymphoma 2
BDNF brain-derived neurotrophic factor
BST1 bone marrow stromal cell antigen 1
C4B complement component 4B (Chido blood group)
CABLES1 Cdk5 and Abl enzyme substrate 1
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CADM1 cell adhesion molecule 1
CADPS2 Ca++-dependent secretion activator 2
CALB1 calbindin 1, 28kDa
CAMK4 calcium/calmodulin-dependent protein kinase IV
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD38 CD38 molecule
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDH8 cadherin 8, type 2
CELF6 CUGBP, Elav-like family member 6
CHD8 chromodomain helicase DNA binding protein 8
CHDS3 Coronary heart disease, susceptibility to, 3
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHURC1 churchill domain containing 1
CNTN4 contactin 4
CNTNAP2 contactin associated protein-like 2
CNTNAP5 contactin associated protein-like 5
COMT catechol-O-methyltransferase
COPG2 coatomer protein complex, subunit gamma 2
CPA5 carboxypeptidase A5
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
CUX1 cut-like homeobox 1
CYFIP1 cytoplasmic FMR1 interacting protein 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
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)
DHFR dihydrofolate reductase
DISC1 disrupted in schizophrenia 1
DLX1 distal-less homeobox 1
DLX2 distal-less homeobox 2
DLX6 distal-less homeobox 6
DMPK dystrophia myotonica-protein kinase
DOCK4 dedicator of cytokinesis 4
DPP4 dipeptidyl-peptidase 4
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD4 dopamine receptor D4
DYX1C1 dyslexia susceptibility 1 candidate 1
EFHC2 EF-hand domain (C-terminal) containing 2
EGF epidermal growth factor
EGR2 early growth response 2
EIF1AY eukaryotic translation initiation factor 1A, Y-linked
EIF4E eukaryotic translation initiation factor 4E
EN2 engrailed homeobox 2
EXT1 exostosin glycosyltransferase 1
FA2H fatty acid 2-hydroxylase
FAM120C family with sequence similarity 120C
FAN1 FANCD2/FANCI-associated nuclease 1
FASN fatty acid synthase
FLT1 fms-related tyrosine kinase 1
FMR1 fragile X mental retardation 1
FNDC3A fibronectin type III domain containing 3A
FOXP2 forkhead box P2
FTH1 ferritin, heavy polypeptide 1
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA2 gamma-aminobutyric acid (GABA) A receptor, alpha 2
GABRA3 gamma-aminobutyric acid (GABA) A receptor, alpha 3
GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GDNF glial cell derived neurotrophic factor
GJA1 gap junction protein, alpha 1, 43kDa
GLO1 glyoxalase I
GPHN gephyrin
GRIA2 glutamate receptor, ionotropic, AMPA 2
GRIK2 glutamate receptor, ionotropic, kainate 2
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GRIP1 glutamate receptor interacting protein 1
GRM5 glutamate receptor, metabotropic 5
GRM7 glutamate receptor, metabotropic 7
GRN granulin
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GTF2I general transcription factor IIi
HAGH hydroxyacylglutathione hydrolase
HEPACAM hepatic and glial cell adhesion molecule
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-A major histocompatibility complex, class I, A
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA1 homeobox A1
HOXB1 homeobox B1
HOXD11 homeobox D11
HOXD12 homeobox D12
HOXD13 homeobox D13
HRH1 histamine receptor H1
HRH2 histamine receptor H2
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
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
HTR3C 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic
IL17A interleukin 17A
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JMJD1C jumonji domain containing 1C
KATNAL2 katanin p60 subunit A-like 2
KCND2 potassium channel, voltage gated Shal related subfamily D, member 2
KDR kinase insert domain receptor
LEP leptin
LIN7B lin-7 homolog B (C. elegans)
LMX1B LIM homeobox transcription factor 1, beta
LRFN5 leucine rich repeat and fibronectin type III domain containing 5
LRP2 low density lipoprotein receptor-related protein 2
MACROD2 MACRO domain containing 2
MAGEL2 melanoma antigen family L2
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MARK1 MAP/microtubule affinity-regulating kinase 1
MBD1 methyl-CpG binding domain protein 1
MBD5 methyl-CpG binding domain protein 5
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEST mesoderm specific transcript
MET MET proto-oncogene, receptor tyrosine kinase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR137 microRNA 137
MLPH melanophilin
MOG myelin oligodendrocyte glycoprotein
MT1A metallothionein 1A
MTF1 metal-regulatory transcription factor 1
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTNR1A melatonin receptor 1A
MTNR1B melatonin receptor 1B
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH9 myosin, heavy chain 9, non-muscle
MYT1L myelin transcription factor 1-like
NBEA neurobeachin
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
NEWENTRY Record to support submission of GeneRIFs for a gene not in Gene (human; man).
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NGF nerve growth factor (beta polypeptide)
NLGN1 neuroligin 1
NLGN3 neuroligin 3
NLGN4X neuroligin 4, X-linked
NLGN4Y neuroligin 4, Y-linked
NOS1AP nitric oxide synthase 1 (neuronal) adaptor protein
NOS2 nitric oxide synthase 2, inducible
NPTX2 neuronal pentraxin II
NRCAM neuronal cell adhesion molecule
NRP2 neuropilin 2
NRXN1 neurexin 1
NRXN2 neurexin 2
NRXN3 neurexin 3
NSD1 nuclear receptor binding SET domain protein 1
NTF3 neurotrophin 3
NTF4 neurotrophin 4
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OCRL oculocerebrorenal syndrome of Lowe
OXT oxytocin/neurophysin I prepropeptide
OXTR oxytocin receptor
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARK2 parkin RBR E3 ubiquitin protein ligase
PCDH19 protocadherin 19
PCDHA@ protocadherin alpha cluster, complex locus
PECAM1 platelet/endothelial cell adhesion molecule 1
PEX7 peroxisomal biogenesis factor 7
PHF8 PHD finger protein 8
PLEKHG3 pleckstrin homology domain containing, family G (with RhoGef domain) member 3
PON1 paraoxonase 1
PPP1R1B protein phosphatase 1, regulatory (inhibitor) subunit 1B
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKCB protein kinase C, beta
PRODH proline dehydrogenase (oxidase) 1
PTCHD1 patched domain containing 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2 protein tyrosine kinase 2
PXDN peroxidasin
PXN paxillin
RAB3A RAB3A, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1
REEP3 receptor accessory protein 3
RELN reelin
RETN resistin
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RORA RAR-related orphan receptor A
RPL10 ribosomal protein L10
RYR2 ryanodine receptor 2 (cardiac)
RYR3 ryanodine receptor 3
SCAMP5 secretory carrier membrane protein 5
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN3A sodium channel, voltage gated, type III alpha subunit
SCT secretin
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
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
SHANK1 SH3 and multiple ankyrin repeat domains 1
SHANK2 SH3 and multiple ankyrin repeat domains 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHFM1 split hand/foot malformation (ectrodactyly) type 1
SHH sonic hedgehog
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC19A1 solute carrier family 19 (folate transporter), member 1
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLC9A9 solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
SNAP25 synaptosomal-associated protein, 25kDa
SPP1 secreted phosphoprotein 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRRM4 serine/arginine repetitive matrix 4
SSTR5 somatostatin receptor 5
STK39 serine threonine kinase 39
STS steroid sulfatase (microsomal), isozyme S
STX1A syntaxin 1A (brain)
SYN1 synapsin I
SYN2 synapsin II
SYNGAP1 synaptic Ras GTPase activating protein 1
TAC1 tachykinin, precursor 1
TBL1Y transducin (beta)-like 1, Y-linked
TDO2 tryptophan 2,3-dioxygenase
TGFB1 transforming growth factor, beta 1
TMLHE trimethyllysine hydroxylase, epsilon
TP53 tumor protein p53
TPH1 tryptophan hydroxylase 1
TPH2 tryptophan hydroxylase 2
TSPAN7 tetraspanin 7
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
UPP2 uridine phosphorylase 2
VEGFA vascular endothelial growth factor A
WNK3 WNK lysine deficient protein kinase 3
WNT1 wingless-type MMTV integration site family, member 1
WNT2 wingless-type MMTV integration site family member 2
XG Xg blood group
ZNF214 zinc finger protein 214
ZNF385B zinc finger protein 385B
ZNF407 zinc finger protein 407
ZNF778 zinc finger protein 778
ZNF804A zinc finger protein 804A