Autism

Summary

Autism (MONDO:0005260) is a disease caused by variants in TBR1, CHD8, DSCAM, and 2 other genes, with 74 cohort genes (45 GWAS associations across 21 studies) and 1,835 clinical trials. The dominant Reactome pathway is Interaction between L1 and Ankyrins (7 cohort genes). Top therapeutic interventions include valproic acid, atomoxetine, and buspirone.

At a glance

• Causal genes: TBR1 (GenCC Definitive), CHD8 (GenCC Strong), DSCAM (GenCC Strong), RIMS1 (GenCC Strong) (+1 more)
• Cohort genes: 74
• GWAS associations: 45
• ClinVar variants: 346
• Clinical trials: 1,835

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autism
Mondo ID	MONDO:0005260
EFO	EFO:0003758
MeSH	D001321
OMIM	209850
DOID	DOID:12849
ICD-10-CM	F84.0
NCIT	C97161
UMLS	C0004352
MedGen	13966
Is cancer (heuristic)	no

Also known as: autism · autism (disease) · autism spectrum disorder · autism, susceptiblity to · infantile autism · Kanner’s syndrome

Data availability: 346 ClinVar variants · 45 GWAS associations (21 studies) · 13 GenCC gene-disease records · 1 HPO phenotype · 302 cell lines.

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › pervasive developmental disorder › autism spectrum disorder › autism

Related subtypes (4): PAX5-related B lymphopenia and autism spectrum disorder, autism spectrum disorder 1, autism spectrum disorder 2, autism spectrum disorder 3

Genetics & variants

GWAS landscape

45 GWAS associations across 21 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs4307059	2e-10	MSNP1 - RNU4-43P	T	1.19
rs2032658	3e-09	UTY	A	46.36
rs9786153	3e-09	EIF1AY	T	1.8
rs1865680	2e-08	TBL1Y	G	24.62
rs2032624	2e-08	DDX3Y	A	20.89
rs2032631	2e-08	KDM5D	G	24.23
rs8453	3e-08	CSDE1; AMPD1 - RN7SL432P	A
rs6537825	3e-08	TRIM33	A	1.4
rs4141463	4e-08	MACROD2	?	1.37
rs926938	4e-08	AMPD1 - RN7SL432P	A	1.27
rs11585926	4e-08	TRIM33; TRIM33 - PKMP1; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33	C
rs117370501	4e-08	LINC02613	?
rs11587400	7e-08	PKMP1; PKMP1 - BCAS2	T
rs4773054	7e-08	LINC00399 - LINC00676	?	2.9
rs9785971	7e-08	AMELY	G	22.42
rs10513025	2e-07	SNHG18 - TAS2R1	?	1.81
rs4150167	3e-07	TAF1C	?	1.96
rs4675502	4e-07	PARD3B	?	1.28
rs7711337	8e-07	RNU6-164P - ARL2BPP5	?	1.22
rs7834018	8e-07	EYA1 - U8	?	1.56
rs6538761	2e-06	Y_RNA - LINC02409	A	1.24
rs10038113	3e-06	RNU6-374P - MSNP1	T	1.33
rs7142002	3e-06	PPP2R5C	?	1.56
chr17:31559597	3e-06		C
chr16:12594568	4e-06		A
rs12058696	4e-06	ESRRG	G
rs6589964	4e-06	BSX - SAE1P1	A
rs1551064	4e-06	PAFAH1B2P2 - MIR4495	C
rs12557937	4e-06	NAB1P1 - Metazoa_SRP	A
rs6453278	5e-06	ZBED3-AS1, PDE8B	?	1.25

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90275150	Pedersen EM	2023	18,235	36,741	ADuLT: An efficient and robust time-to-event GWAS.
GCST90275151	Pedersen EM	2023	18,235	36,741	ADuLT: An efficient and robust time-to-event GWAS.
GCST90275152	Pedersen EM	2023	18,235	36,741	ADuLT: An efficient and robust time-to-event GWAS.
GCST90275161	Pedersen EM	2023	18,235	36,741	ADuLT: An efficient and robust time-to-event GWAS.
GCST90275162	Pedersen EM	2023	18,235	36,741	ADuLT: An efficient and robust time-to-event GWAS.
GCST000496	Weiss LA	2009	1,553	0	A genome-wide linkage and association scan reveals novel loci for autism.
GCST001619	Anney R	2012	1,419	0	Individual common variants exert weak effects on the risk for autism spectrum disorders.
GCST000740	Anney R	2010	1,230	1,880	A genome-wide scan for common alleles affecting risk for autism.
GCST000382	Wang K	2009	1,204	6,491	Common genetic variants on 5p14.1 associate with autism spectrum disorders.
GCST90481839	Verma A	2024	365	450,912	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	37

MAF distribution

Bucket	Variants
common (>=0.05)	35
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	5

Functional consequences

Consequence	Count
intron_variant	22
intergenic_variant	5
unknown	4
missense_variant	2
3_prime_UTR_variant	1
3_prime_UTR_variant; intergenic_variant	1
intron_variant; intergenic_variant; intron_variant; intron_variant; intron_variant; intron_variant; missense_variant; intron_variant; intron_variant	1
non_coding_transcript_exon_variant; intergenic_variant	1
non_coding_transcript_exon_variant	1
intron_variant; missense_variant	1
missense_variant; missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs4307059	5	25967594	T>A,C	0.39	intron_variant	MSNP1 - RNU4-43P	2e-10	Tier 4: intronic/intergenic
rs2032658	Y	13470103	G>A	0.155	intron_variant	UTY	3e-09	Tier 4: intronic/intergenic
rs9786153	Y	20577481	C>G,T	0.151	intron_variant	EIF1AY	3e-09	Tier 4: intronic/intergenic
rs1865680	Y	7000077	A>G	0.174	intron_variant	TBL1Y	2e-08	Tier 4: intronic/intergenic
rs2032624	Y	12914512	C>A	0.165	intron_variant	DDX3Y	2e-08	Tier 4: intronic/intergenic
rs2032631	Y	19705901	A>G,T	0.174	3_prime_UTR_variant	KDM5D	2e-08	Tier 2: splice/UTR
rs8453	1;1	114716978	G>A,C,T	0.481	3_prime_UTR_variant; intergenic_variant	CSDE1; AMPD1 - RN7SL432P	3e-08	Tier 4: intronic/intergenic
rs6537825	1	114405659	A>G,T	0.05	missense_variant	TRIM33	3e-08	Tier 1: coding
rs4141463	20	14766825	T>C	0.43	intron_variant	MACROD2	4e-08	Tier 4: intronic/intergenic
rs926938	1	114697195	A>C,G,T	0.5	intergenic_variant	AMPD1 - RN7SL432P	4e-08	Tier 4: intronic/intergenic
rs11585926	1;1;1;1;1;1;1;1;1	114431068	T>A,C	0.382	intron_variant; intergenic_variant; intron_variant; intron_variant; intron_variant; intron_variant; missense_variant; intron_variant; intron_variant	TRIM33; TRIM33 - PKMP1; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33; TRIM33	4e-08	Tier 4: intronic/intergenic
rs117370501	2	38528650	T>C		intron_variant	LINC02613	4e-08	Tier 4: intronic/intergenic
rs11587400	1;1	114537037	C>A,G,T	0.449	non_coding_transcript_exon_variant; intergenic_variant	PKMP1; PKMP1 - BCAS2	7e-08	Tier 4: intronic/intergenic
rs4773054	13	109501681	T>C	0.05	intron_variant	LINC00399 - LINC00676	7e-08	Tier 4: intronic/intergenic
rs9785971	Y	6885470	A>G	0.167	intron_variant	AMELY	7e-08	Tier 4: intronic/intergenic
rs10513025	5	9623510	T>C	0.05	non_coding_transcript_exon_variant	SNHG18 - TAS2R1	2e-07	Tier 4: intronic/intergenic
rs4150167	16	84180078	C>G,T	0.05	missense_variant	TAF1C	3e-07	Tier 1: coding
rs4675502	2	205221447	G>A,C	0.05	intron_variant	PARD3B	4e-07	Tier 4: intronic/intergenic
rs7711337	5	162656512	G>A,C	0.05	intron_variant	RNU6-164P - ARL2BPP5	8e-07	Tier 4: intronic/intergenic
rs7834018	8	71649507	C>T	0.05	intron_variant	EYA1 - U8	8e-07	Tier 4: intronic/intergenic
rs6538761	12	97040442	A>C	0.05	intron_variant	Y_RNA - LINC02409	2e-06	Tier 4: intronic/intergenic
rs10038113	5	25902233	T>C,G	0.41	intergenic_variant	RNU6-374P - MSNP1	3e-06	Tier 4: intronic/intergenic
rs7142002	14	101894408	T>C	0.06	intron_variant	PPP2R5C	3e-06	Tier 4: intronic/intergenic
chr17:31559597							3e-06	Tier 4: intronic/intergenic
chr16:12594568							4e-06	Tier 4: intronic/intergenic
rs12058696	1	216527482	A>G	0.05	intron_variant	ESRRG	4e-06	Tier 4: intronic/intergenic
rs6589964	11	122999975	A>C,T	0.05	intergenic_variant	BSX - SAE1P1	4e-06	Tier 4: intronic/intergenic
rs1551064	12	97901591	T>C	0.05	intergenic_variant	PAFAH1B2P2 - MIR4495	4e-06	Tier 4: intronic/intergenic
rs12557937	X	151247507	G>A	0.05	intergenic_variant	NAB1P1 - Metazoa_SRP	4e-06	Tier 4: intronic/intergenic
rs6453278	5	77121217	G>A,C,T	0.05	intron_variant	ZBED3-AS1, PDE8B	5e-06	Tier 4: intronic/intergenic

ClinVar germline variants

346 retrieved; paginated sample, class counts are floors:

149 uncertain significance, 86 likely pathogenic, 66 pathogenic, 16 conflicting classifications of pathogenicity, 12 pathogenic/likely pathogenic, 8 likely benign, 7 benign, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
545219	NC_000017.11:g.(?36143765)(37995300_?)del	AATF	Pathogenic	criteria provided, single submitter
545222	NC_000017.11:g.(?36446252)(37887875_?)del	AATF	Pathogenic	criteria provided, single submitter
545193	Single allele	ABCC1	Pathogenic	criteria provided, single submitter
1047893	GRCh37/hg19 22q13.33(chr22:51123491-51219009)	ACR	Pathogenic	criteria provided, single submitter
430804	NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)	ACTL6B	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
223	NM_000027.4(AGA):c.302C>T (p.Ala101Val)	AGA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
523290	GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)	AGPAT5	Pathogenic	criteria provided, single submitter
545265	Single allele	AIFM3	Pathogenic	criteria provided, single submitter
545266	Single allele	AIFM3	Pathogenic	criteria provided, single submitter
545199	NC_000016.10:g.(?29480853)(30254620_?)del	ALDOA	Pathogenic	criteria provided, single submitter
545201	Single allele	ALDOA	Pathogenic	criteria provided, single submitter
545205	Single allele	ALDOA	Pathogenic	criteria provided, single submitter
545163	Single allele	APBA2	Pathogenic	criteria provided, single submitter
488014	Single allele	ARAF	Pathogenic	criteria provided, single submitter
1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
545181	NC_000015.10:g.(?30568981)(32318632_?)del	ARHGAP11B	Pathogenic	criteria provided, single submitter
545264	Single allele	ARVCF	Pathogenic	criteria provided, single submitter
551174	NM_000049.4(ASPA):c.634+1G>T	ASPA	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1047902	GRCh37/hg19 4p16.3(chr4:374557-745174)	ATP5ME	Pathogenic	criteria provided, single submitter
1710926	GRCh37/hg19 6q13(chr6:71105038-75200617)x1	B3GAT2	Pathogenic	no assertion criteria provided
1047881	GRCh37/hg19 6q21(chr6:107331934-108121759)	BEND3	Pathogenic	criteria provided, single submitter
39975	NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)	CAMK2G	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
228325	NM_017721.5(CC2D1A):c.748+1G>T	CC2D1A	Pathogenic	criteria provided, multiple submitters, no conflicts
143785	NM_001323289.2(CDKL5):c.183del (p.Met63fs)	CDKL5	Pathogenic	criteria provided, single submitter
975208	NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter)	CHD8	Pathogenic	criteria provided, multiple submitters, no conflicts
449923	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1047867	GRCh37/hg19 16p13.3(chr16:3784414-3821324)	CREBBP	Pathogenic	criteria provided, single submitter
545169	NC_000015.10:g.(?22751662)(23126124_?)del	CYFIP1	Pathogenic	criteria provided, single submitter
997051	GRCh37/hg19 15q11.2(chr15:22765628-23085096)	CYFIP1	Pathogenic	criteria provided, single submitter
3338204	NM_021008.4(DEAF1):c.1112dup (p.Ala372fs)	DEAF1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 34 · Orphanet: 92 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 2

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
MACROD2	MACROD2	GWAS
AMPD1	AMPD1	GWAS, Orphanet

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TBR1	Definitive	Autosomal dominant	autism	3
CHD8	Strong	Autosomal dominant	intellectual developmental disorder with autism and macrocephaly	4
DSCAM	Strong	Autosomal dominant	autism	2
RIMS1	Strong	Autosomal dominant	autism	7
SHANK1	Strong	Autosomal dominant	autism	2
NRXN1	Moderate	Autosomal dominant	autism	7
IMMP2L	Limited	Autosomal dominant	autism
NRXN3	Limited	Autosomal dominant	autism
PCDH10	Limited	Autosomal dominant	autism
SIK3	Limited	Autosomal dominant	autism	5
ZNF713	Limited	Autosomal dominant	autism

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CHD8	Orphanet:261229	14q11.2 microduplication syndrome
CHD8	Orphanet:642675	CHD8 overgrowth syndrome
AMPD1	Orphanet:45	Adenosine monophosphate deaminase deficiency
NRXN1	Orphanet:600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
TBR1	Orphanet:1617	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
TBR1	Orphanet:528084	Non-specific syndromic intellectual disability
RIMS1	Orphanet:1872	Cone rod dystrophy
RPE65	Orphanet:364055	Severe early-childhood-onset retinal dystrophy
RPE65	Orphanet:65	Leber congenital amaurosis
RPE65	Orphanet:791	Retinitis pigmentosa
SCN10A	Orphanet:101016	Romano-Ward syndrome
SCN10A	Orphanet:130	Brugada syndrome
SCN10A	Orphanet:306577	Hereditary sodium channelopathy-related small fibers neuropathy
SCN10A	Orphanet:46348	Paroxysmal extreme pain disorder
SCN10A	Orphanet:88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy
SCN10A	Orphanet:90026	Primary erythromelalgia
SCN1A	Orphanet:1942	Epilepsy with myoclonic-atonic seizures
SCN1A	Orphanet:2382	Lennox-Gastaut syndrome
SCN1A	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
SCN1A	Orphanet:33069	Dravet syndrome
SCN1A	Orphanet:36387	Genetic epilepsy with febrile seizure plus
SCN1A	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
SCN1A	Orphanet:569	Familial or sporadic hemiplegic migraine
SCN2A	Orphanet:140927	Self-limited neonatal-infantile epilepsy
SCN2A	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
SCN2A	Orphanet:2131	Alternating hemiplegia of childhood
SCN2A	Orphanet:293181	Epilepsy of infancy with migrating focal seizures
SCN2A	Orphanet:306	Self-limited infantile epilepsy
SCN2A	Orphanet:33069	Dravet syndrome
SCN2A	Orphanet:36387	Genetic epilepsy with febrile seizure plus
SCN2A	Orphanet:697160	Infantile epileptic spasms syndrome
SCN5A	Orphanet:101016	Romano-Ward syndrome
SCN5A	Orphanet:130	Brugada syndrome
SCN5A	Orphanet:1344	Isolated atrial standstill
SCN5A	Orphanet:154	Familial isolated dilated cardiomyopathy
SCN5A	Orphanet:166282	Hereditary sick sinus syndrome
SCN5A	Orphanet:228140	Idiopathic ventricular fibrillation
SCN5A	Orphanet:334	Hereditary atrial fibrillation
SCN5A	Orphanet:871	Hereditary progressive cardiac conduction defect
SCN8A	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
SCN8A	Orphanet:306	Self-limited infantile epilepsy
SCN8A	Orphanet:352582	Familial infantile myoclonic epilepsy
SCN8A	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
SEMA5A	Orphanet:281	Monosomy 5p syndrome
SHH	Orphanet:220386	Semilobar holoprosencephaly
SHH	Orphanet:280195	Septopreoptic holoprosencephaly
SHH	Orphanet:280200	Microform holoprosencephaly
SHH	Orphanet:476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
SHH	Orphanet:485275	Acquired schizencephaly
SHH	Orphanet:93321	Isolated radial hemimelia

Cohort genes → proteins

74 cohort genes, 74 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	6
gwas_and_clinvar	2
multi_evidence	66

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MACROD2	HGNC:16126	ENSG00000172264	A1Z1Q3	ADP-ribose glycohydrolase MACROD2	gwas,clinvar
CHD8	HGNC:20153	ENSG00000100888	Q9HCK8	ATP-dependent chromatin remodeler CHD8	gencc,clinvar
DSCAM	HGNC:3039	ENSG00000171587	O60469	Cell adhesion molecule DSCAM	gencc,clinvar
AMPD1	HGNC:468	ENSG00000116748	P23109	AMP deaminase 1	gwas,clinvar
NRXN1	HGNC:8008	ENSG00000179915	P58400	Neurexin-1-beta	gencc,clinvar
NRXN3	HGNC:8010	ENSG00000021645	Q9HDB5	Neurexin-3-beta	gencc,clinvar
TBR1	HGNC:11590	ENSG00000136535	Q16650	T-box brain protein 1	gencc
PCDH10	HGNC:13404	ENSG00000138650	Q9P2E7	Protocadherin-10	gencc
IMMP2L	HGNC:14598	ENSG00000184903	Q96T52	Mitochondrial inner membrane protease subunit 2	gencc
SHANK1	HGNC:15474	ENSG00000161681	Q9Y566	SH3 and multiple ankyrin repeat domains protein 1	gencc
RIMS1	HGNC:17282	ENSG00000079841	Q86UR5	Regulating synaptic membrane exocytosis protein 1	gencc
ZNF713	HGNC:22043	ENSG00000178665	Q8N859	Zinc finger protein 713	gencc
SIK3	HGNC:29165	ENSG00000160584	Q9Y2K2	Serine/threonine-protein kinase SIK3	gencc
TRIM3	HGNC:10064	ENSG00000110171	O75382	Tripartite motif-containing protein 3	clinvar
BDH1	HGNC:1027	ENSG00000161267	Q02338	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	clinvar
RPE65	HGNC:10294	ENSG00000116745	Q16518	Retinoid isomerohydrolase	clinvar
RPL17	HGNC:10307	ENSG00000265681	P18621	Large ribosomal subunit protein uL22	clinvar
RPL23	HGNC:10316	ENSG00000125691	P62829	Large ribosomal subunit protein uL14	clinvar
SCN10A	HGNC:10582	ENSG00000185313	Q9Y5Y9	Sodium channel protein type 10 subunit alpha	clinvar
SCN1A	HGNC:10585	ENSG00000144285	P35498	Sodium channel protein type 1 subunit alpha	clinvar
SCN2A	HGNC:10588	ENSG00000136531	Q99250	Sodium channel protein type 2 subunit alpha	clinvar
SCN5A	HGNC:10593	ENSG00000183873	Q14524	Sodium channel protein type 5 subunit alpha	clinvar
SCN8A	HGNC:10596	ENSG00000196876	Q9UQD0	Sodium channel protein type 8 subunit alpha	clinvar
SEMA5A	HGNC:10736	ENSG00000112902	Q13591	Semaphorin-5A	gwas
SEZ6L	HGNC:10763	ENSG00000100095	Q9BYH1	Seizure 6-like protein	clinvar
SHH	HGNC:10848	ENSG00000164690	Q15465	Sonic hedgehog protein	clinvar
SLC35A2	HGNC:11022	ENSG00000102100	P78381	UDP-galactose translocator	clinvar
KDM5D	HGNC:11115	ENSG00000012817	Q9BY66	Lysine-specific demethylase 5D	gwas
CDKL5	HGNC:11411	ENSG00000008086	O76039	Cyclin-dependent kinase-like 5	clinvar
STX1A	HGNC:11433	ENSG00000106089	Q16623	Syntaxin-1A	clinvar
STXBP1	HGNC:11444	ENSG00000136854	P61764	Syntaxin-binding protein 1	clinvar
TAF1C	HGNC:11534	ENSG00000103168	Q15572	TATA box-binding protein-associated factor RNA polymerase I subunit C	gwas
TCF20	HGNC:11631	ENSG00000100207	Q9UGU0	Transcription factor 20	clinvar
TCF7L2	HGNC:11641	ENSG00000148737	Q9NQB0	Transcription factor 7-like 2	clinvar
DAGLA	HGNC:1165	ENSG00000134780	Q9Y4D2	Diacylglycerol lipase-alpha	clinvar
FAM3B	HGNC:1253	ENSG00000183844	P58499	Protein FAM3B	clinvar
ACR	HGNC:126	ENSG00000100312	P10323	Acrosin	clinvar
UTY	HGNC:12638	ENSG00000183878	O14607	Histone demethylase UTY	gwas
VAV1	HGNC:12657	ENSG00000141968	P15498	Proto-oncogene vav	clinvar
BRWD1	HGNC:12760	ENSG00000185658	Q9NSI6	Bromodomain and WD repeat-containing protein 1	clinvar
FOXN1	HGNC:12765	ENSG00000109101	O15353	Forkhead box protein N1	clinvar
ZNF185	HGNC:12976	ENSG00000147394	O15231	Zinc finger protein 185	clinvar
FAXDC2	HGNC:1334	ENSG00000170271	Q96IV6	Fatty acid hydroxylase domain-containing protein 2	clinvar
FAM53C	HGNC:1336	ENSG00000120709	Q9NYF3	Protein FAM53C	clinvar
ATP10D	HGNC:13549	ENSG00000145246	Q9P241	Phospholipid-transporting ATPase VD	clinvar
RANBP9	HGNC:13727	ENSG00000010017	Q96S59	Ran-binding protein 9	clinvar
CYFIP1	HGNC:13759	ENSG00000273749	Q7L576	Cytoplasmic FMR1-interacting protein 1	clinvar
CYFIP2	HGNC:13760	ENSG00000055163	Q96F07	Cytoplasmic FMR1-interacting protein 2	clinvar
CNTNAP2	HGNC:13830	ENSG00000174469	Q9UHC6	Contactin-associated protein-like 2	clinvar
CABP2	HGNC:1385	ENSG00000167791	Q9NPB3	Calcium-binding protein 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MACROD2	ADP-ribose glycohydrolase MACROD2	Removes ADP-ribose from aspartate and glutamate residues in proteins bearing a single ADP-ribose moiety.
CHD8	ATP-dependent chromatin remodeler CHD8	ATP-dependent chromatin-remodeling factor, it slides nucleosomes along DNA; nucleosome sliding requires ATP.
DSCAM	Cell adhesion molecule DSCAM	Cell adhesion molecule that plays a role in neuronal self-avoidance.
AMPD1	AMP deaminase 1	AMP deaminase plays a critical role in energy metabolism.
NRXN1	Neurexin-1-beta	Neuronal cell surface protein involved in cell recognition and cell adhesion by forming intracellular junctions through binding to neuroligins.
NRXN3	Neurexin-3-beta	Neuronal cell surface protein that may be involved in cell recognition and cell adhesion.
TBR1	T-box brain protein 1	Transcriptional repressor involved in multiple aspects of cortical development, including neuronal migration, laminar and areal identity, and axonal projection.
PCDH10	Protocadherin-10	Potential calcium-dependent cell-adhesion protein.
IMMP2L	Mitochondrial inner membrane protease subunit 2	Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space.
SHANK1	SH3 and multiple ankyrin repeat domains protein 1	Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors via complexes with GKAP/PSD-95 and H…
RIMS1	Regulating synaptic membrane exocytosis protein 1	Rab effector involved in exocytosis.
ZNF713	Zinc finger protein 713	May be involved in transcriptional regulation.
SIK3	Serine/threonine-protein kinase SIK3	Positive regulator of mTOR signaling that functions by triggering the degradation of DEPTOR, an mTOR inhibitor.
TRIM3	Tripartite motif-containing protein 3	E3 ubiquitin ligase that plays essential roles in neuronal functions such as regulation of neuronal plasticity, learning, and memory.
RPE65	Retinoid isomerohydrolase	Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins.
RPL17	Large ribosomal subunit protein uL22	Component of the large ribosomal subunit.
RPL23	Large ribosomal subunit protein uL14	Component of the large ribosomal subunit.
SCN10A	Sodium channel protein type 10 subunit alpha	Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes.
SCN1A	Sodium channel protein type 1 subunit alpha	Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
SCN2A	Sodium channel protein type 2 subunit alpha	Mediates the voltage-dependent sodium ion permeability of excitable membranes.
SCN5A	Sodium channel protein type 5 subunit alpha	Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
SCN8A	Sodium channel protein type 8 subunit alpha	Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradie…
SEMA5A	Semaphorin-5A	Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate prot…
SEZ6L	Seizure 6-like protein	May contribute to specialized endoplasmic reticulum functions in neurons.
SHH	Sonic hedgehog protein	The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity.
SLC35A2	UDP-galactose translocator	Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP.
KDM5D	Lysine-specific demethylase 5D	Histone demethylase that specifically demethylates ‘Lys-4’ of histone H3, thereby playing a central role in histone code.
CDKL5	Cyclin-dependent kinase-like 5	Mediates phosphorylation of MECP2.
STX1A	Syntaxin-1A	Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis.
STXBP1	Syntaxin-binding protein 1	Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins.
TAF1C	TATA box-binding protein-associated factor RNA polymerase I subunit C	Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription.
TCF20	Transcription factor 20	Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression.
TCF7L2	Transcription factor 7-like 2	Participates in the Wnt signaling pathway and modulates MYC expression by binding to its promoter in a sequence-specific manner.
DAGLA	Diacylglycerol lipase-alpha	Serine hydrolase that hydrolyzes arachidonic acid-esterified diacylglycerols (DAGs) to produce the principal endocannabinoid, 2-arachidonoylglycerol (2-AG).
FAM3B	Protein FAM3B	Induces apoptosis of alpha and beta cells in a dose- and time-dependent manner.
ACR	Acrosin	Acrosin is the major protease of mammalian spermatozoa.
UTY	Histone demethylase UTY	Male-specific histone demethylase that catalyzes trimethylated ‘Lys-27’ (H3K27me3) demethylation in histone H3.
VAV1	Proto-oncogene vav	Couples tyrosine kinase signals with the activation of the Rho/Rac GTPases, thus leading to cell differentiation and/or proliferation.
BRWD1	Bromodomain and WD repeat-containing protein 1	May be a transcriptional activator.
FOXN1	Forkhead box protein N1	Transcriptional regulator which regulates the development, differentiation, and function of thymic epithelial cells (TECs) both in the prenatal and postnatal thymus.
ZNF185	Zinc finger protein 185	May be involved in the regulation of cellular proliferation and/or differentiation.
FAXDC2	Fatty acid hydroxylase domain-containing protein 2	Promotes megakaryocyte differentiation by enhancing ERK phosphorylation and up-regulating RUNX1 expression.
ATP10D	Phospholipid-transporting ATPase VD	Catalytic component of a P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of glucosylceramide (GlcCer) from the outer to the inner leaflet of the plasma membrane.
RANBP9	Ran-binding protein 9	May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways.
CYFIP1	Cytoplasmic FMR1-interacting protein 1	Component of the CYFIP1-EIF4E-FMR1 complex which binds to the mRNA cap and mediates translational repression.
CYFIP2	Cytoplasmic FMR1-interacting protein 2	Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis.
CNTNAP2	Contactin-associated protein-like 2	Required for gap junction formation.
CABP2	Calcium-binding protein 2	Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs.
CSMD1	CUB and sushi domain-containing protein 1	Potential suppressor of squamous cell carcinomas.
HDAC6	Protein deacetylase HDAC6	Deacetylates a wide range of non-histone substrates.

Protein-family classification

Druggable: 20 · Difficult: 25 · Unknown: 29 · Druggable fraction: 0.27

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Ion channel	5	7.5×	0.005
Scaffold/PPI	10	2.3×	0.045
Complement	2	7.2×	0.070
Transcription factor	15	1.7×	0.070
Kinase	4	1.5×	0.494
Protease	3	1.5×	0.494
Enzyme (other)	5	0.8×	0.964
Other/Unknown	29	0.7×	0.999
Antibody/Immunoglobulin	1	0.4×	0.999

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MACROD2	Enzyme (other)	yes	3.1.1.106	Macro_dom, Macro_dom-like
CHD8	Other/Unknown	no		SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like
DSCAM	Antibody/Immunoglobulin	yes		Ig_sub2, Ig_sub, FN3_dom
AMPD1	Enzyme (other)	yes	3.5.4.6	AMPD, A/AMP_deam_AS, Metal_Hydrolase
NRXN1	Other/Unknown	no		Laminin_G, Neurexin-like, ConA-like_dom_sf
NRXN3	Other/Unknown	no		Laminin_G, Neurexin-like, ConA-like_dom_sf
TBR1	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
PCDH10	Other/Unknown	no		Cadherin-like_dom, Cadherin_N, Cadherin-like_sf
IMMP2L	Protease	yes		Pept_S26A_signal_pept_1, Peptidase_S26, Pept_S26A_signal_pept_1_CS
SHANK1	Scaffold/PPI	no		SH3_domain, PDZ, SAM
RIMS1	Transcription factor	no		C2_dom, PDZ, Rab_BD
ZNF713	Transcription factor	no		KRAB, Znf_C2H2_type, KRAB_dom_sf
SIK3	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
TRIM3	Transcription factor	no		Znf_B-box, NHL_repeat, Filamin/ABP280_rpt
BDH1	Other/Unknown	no		SDR_fam, Sc_DH/Rdtase_CS, NAD(P)-bd_dom_sf
RPE65	Enzyme (other)	yes	3.1.1.64	Carotenoid_Oase
RPL17	Other/Unknown	no		Ribosomal_uL22, Ribosomal_uL22_euk_arc, Ribosomal_uL22_CS
RPL23	Other/Unknown	no		Ribosomal_uL14, Ribosomal_uL14_CS, Ribosomal_uL14_sf
SCN10A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_trans_assoc_dom
SCN1A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_channel_a1su
SCN2A	Ion channel	yes		IQ_motif_EF-hand-BS, Na_channel_asu, Ion_trans_dom
SCN5A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_channel_a5su
SCN8A	Ion channel	yes		IQ_motif_EF-hand-BS, Na_channel_asu, Ion_trans_dom
SEMA5A	Scaffold/PPI	no		TSP1_rpt, Semap_dom, Plexin_repeat
SEZ6L	Complement	yes		Sushi_SCR_CCP_dom, CUB_dom, Sperma_CUB_dom_sf
SHH	Other/Unknown	no		Hedgehog_signalling_dom, Hedgehog, Hedgehog_Hint
SLC35A2	Other/Unknown	no		Nuc_sug_transpt, EmrE-like
KDM5D	Transcription factor	no	1.14.11.67	ARID_dom, Znf_PHD, JmjC_dom
CDKL5	Kinase	yes	2.7.11.22	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
STX1A	Other/Unknown	no		T_SNARE_dom, Syntaxin_N, Syntaxin/epimorphin_CS
STXBP1	Other/Unknown	no		Sec1-like, Sec1-like_dom2, Sec1-like_sf
TAF1C	Scaffold/PPI	no		WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf, TAF1C
TCF20	Transcription factor	no		Znf_PHD, Znf_RING/FYVE/PHD, EPHD
TCF7L2	Other/Unknown	no		HMG_box_dom, CTNNB1-bd_N, TCF/LEF
DAGLA	Enzyme (other)	yes	3.1.1.116	Fungal_lipase-type, AB_hydrolase_fold, DAG_Lipase-Related
FAM3B	Other/Unknown	no		FAM3, ILEI/PANDER_dom
ACR	Protease	yes	3.4.21.10	Trypsin_dom, Peptidase_S1A, Peptidase_S1_PA
UTY	Other/Unknown	no		JmjC_dom, TPR-like_helical_dom_sf, TPR_rpt
VAV1	Scaffold/PPI	no		DH_dom, SH2, GDS_CDC24_CS
BRWD1	Scaffold/PPI	no		Bromodomain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
FOXN1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, WH-like_DNA-bd_sf
ZNF185	Transcription factor	no		Znf_LIM, Cell_Prolif/Cornif_Regul
FAXDC2	Other/Unknown	no		Fatty_acid_hydroxylase, Sterol_desaturase-rel
FAM53C	Other/Unknown	no		FAM53
ATP10D	Transcription factor	no	7.6.2.1	P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf
RANBP9	Other/Unknown	no		B30.2/SPRY, SPRY_dom, LisH
CYFIP1	Other/Unknown	no		Cytoplasmic_FMR1-int, CYRIA/CYRIB_Rac1-bd
CYFIP2	Other/Unknown	no		Cytoplasmic_FMR1-int, CYRIA/CYRIB_Rac1-bd
CNTNAP2	Other/Unknown	no		FA58C, EGF, Laminin_G
CABP2	Other/Unknown	no		EF_hand_dom, EF-hand-dom_pair, EF_Hand_1_Ca_BS

Expression context

Cohort genes with no expression data: 0.

62 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	1
broad (>20)	73
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	11
right hemisphere of cerebellum	8
sural nerve	7
middle temporal gyrus	7
ganglionic eminence	7
cerebellar hemisphere	7
Brodmann (1909) area 23	7
lateral nuclear group of thalamus	6
prefrontal cortex	5
right frontal lobe	5
left testis	5
right testis	5
buccal mucosa cell	4
endothelial cell	4
ventricular zone	4
male germ line stem cell (sensu Vertebrata) in testis	4
cerebellar cortex	3
corpus callosum	3
left ovary	3
right ovary	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MACROD2	214	ubiquitous	marker	endothelial cell, buccal mucosa cell, epithelial cell of pancreas
CHD8	283	ubiquitous	marker	sural nerve, ventricular zone, cortical plate
DSCAM	83	broad	marker	endometrium epithelium, cortical plate, lateral nuclear group of thalamus
AMPD1	175	tissue_specific	marker	triceps brachii, vastus lateralis, quadriceps femoris
NRXN1	222	broad	marker	sural nerve, cortical plate, middle temporal gyrus
NRXN3	231	ubiquitous	marker	cerebellar vermis, substantia nigra pars compacta, substantia nigra pars reticulata
TBR1	58	tissue_specific	marker	cortical plate, ganglionic eminence, Brodmann (1909) area 10
PCDH10	175	ubiquitous	marker	endothelial cell, prefrontal cortex, medial globus pallidus
IMMP2L	223	ubiquitous	marker	tibialis anterior, deltoid, calcaneal tendon
SHANK1	183	broad	marker	anterior cingulate cortex, cingulate cortex, right frontal lobe
RIMS1	175	broad	marker	cerebellar cortex, cerebellar hemisphere, cerebellum
ZNF713	188	ubiquitous	yes	cortical plate, ganglionic eminence, ventricular zone
SIK3	290	ubiquitous	marker	lateral globus pallidus, corpus callosum, lateral nuclear group of thalamus
TRIM3	238	ubiquitous	yes	cerebellar hemisphere, right hemisphere of cerebellum, cerebellar cortex
BDH1	134	ubiquitous	marker	right lobe of liver, liver, mucosa of transverse colon
RPE65	92	tissue_specific	marker	pigmented layer of retina, retina, male germ line stem cell (sensu Vertebrata) in testis
RPL17	134	ubiquitous	marker	left ovary, ovary, right ovary
RPL23	210	ubiquitous	marker	ganglionic eminence, left ovary, right ovary
SCN10A	21		marker	type B pancreatic cell, olfactory bulb, diaphragm
SCN1A	154	tissue_specific	marker	Brodmann (1909) area 23, lateral nuclear group of thalamus, primary visual cortex
SCN2A	187	broad	marker	middle temporal gyrus, Brodmann (1909) area 23, cerebellar vermis
SCN5A	161	broad	yes	apex of heart, heart left ventricle, cardiac ventricle
SCN8A	194	ubiquitous	marker	Brodmann (1909) area 23, middle temporal gyrus, postcentral gyrus
SEMA5A	262	ubiquitous	marker	metanephric glomerulus, renal glomerulus, stromal cell of endometrium
SEZ6L	167	broad	marker	ganglionic eminence, endothelial cell, lateral nuclear group of thalamus
SHH	131	broad	marker	buccal mucosa cell, right lobe of liver, epithelial cell of pancreas
SLC35A2	277	ubiquitous	marker	secondary oocyte, bronchial epithelial cell, epithelium of bronchus
KDM5D	259	broad	marker	apex of heart, rectum, right lung
CDKL5	257	ubiquitous	marker	frontal pole, Brodmann (1909) area 23, cortical plate
STX1A	186	ubiquitous	marker	right frontal lobe, right hemisphere of cerebellum, prefrontal cortex

Protein interactions among cohort

Intra-cohort edges: 33.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
UTY	6,253
HDAC6	5,961
RPL17	5,372
SHH	4,953
CHD8	4,791
HTRA2	4,023
TCF7L2	3,775
SHANK3	3,702
SHANK1	3,605
CCNC	3,374

Intra-cohort edges

A	B	Sources
ARHGEF9	CDKL5	string_interaction
ARHGEF9	NLGN2	string_interaction
ARHGEF9	PCDH10	string_interaction
ARHGEF9	STXBP1	string_interaction
AUTS2	CHD8	string_interaction
AUTS2	CNTNAP2	string_interaction
AUTS2	SHANK2	string_interaction
AUTS2	SHANK3	string_interaction
CDKL5	PCDH10	string_interaction
CDKL5	SCN1A	string_interaction
CDKL5	SCN2A	string_interaction
CDKL5	STXBP1	string_interaction
CHD8	SCN2A	string_interaction
CNTNAP2	IMMP2L	string_interaction
CNTNAP2	PARD3B	intact
CNTNAP2	SHANK2	string_interaction
CYFIP1	PCDH10	intact
KDM5D	UTY	string_interaction
NLGN2	NRXN1	biogrid_interaction
NLGN2	NRXN3	biogrid_interaction
NLGN2	SHANK1	intact
NLGN2	SHANK2	string_interaction
NLGN2	SHANK3	string_interaction
PCDH10	SCN1A	string_interaction
PCDH10	SCN2A	string_interaction
PCDH10	STXBP1	string_interaction
RIMS1	STXBP1	string_interaction
SCN1A	SCN2A	biogrid_interaction, string_interaction
SCN1A	STXBP1	string_interaction
SCN2A	STXBP1	string_interaction
SEMA5A	TAS2R1	string_interaction
SHANK2	SHANK3	string_interaction
STX1A	STXBP1	biogrid_interaction, intact, string_interaction

Structural data

PDB: 47 · AlphaFold-only: 27 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RPL17	P18621	195
RPL23	P62829	190
CCNC	P24863	36
HDAC6	Q9UBN7	21
SHH	Q15465	20
SCN5A	Q14524	16
NLGN2	Q8NFZ4	14
HTRA2	O43464	13
UTY	O14607	12
VAV1	P15498	10
WNK3	Q9BYP7	9
SCN10A	Q9Y5Y9	8
PCDH15	Q96QU1	8
PCDH10	Q9P2E7	7
SHANK1	Q9Y566	7
SCN8A	Q9UQD0	7
SIK3	Q9Y2K2	5
SCN2A	Q99250	5
CYFIP1	Q7L576	5
MACROD2	A1Z1Q3	4
SEMA5A	Q13591	4
RANBP9	Q96S59	4
KMT2B	Q9UMN6	4
NRXN1	P58400	3
TRIM3	O75382	3
CDKL5	O76039	3
TCF7L2	Q9NQB0	3
SHANK3	Q9BYB0	3
DEAF1	O75398	3
CHD8	Q9HCK8	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
RPE65	Q16518	95.34
FAM3B	P58499	93.27
FAXDC2	Q96IV6	92.28
IMMP2L	Q96T52	87.66
CYFIP2	Q96F07	87.28
BDH1	Q02338	87.23
AMPD1	P23109	86.84
STX1A	Q16623	84.94
SLC35A2	P78381	80.59
ACR	P10323	80.10
TAS2R1	Q9NYW7	80.07
ARHGAP11B	Q3KRB8	77.88
ATP10D	Q9P241	72.97
CABP2	Q9NPB3	68.93
TAF1C	Q15572	64.79
DAGLA	Q9Y4D2	63.87
NRXN3	Q9HDB5	59.75
TBR1	Q16650	56.17
PARD3B	Q8TEW8	55.56
ZNF713	Q8N859	55.50
FAM53C	Q9NYF3	52.63
CDRT15	Q96T59	52.21
ZNF335	Q9H4Z2	52.13
ZNF185	O15231	50.92
AUTS2	Q8WXX7	41.89
TCF20	Q9UGU0	39.03
SPTBN5	Q9NRC6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 631. Enrichment computed across 250 evidence-associated genes (156 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 156 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interaction between L1 and Ankyrins	7	16.5×	5e-05	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, SPTBN5, ANK3
Neurexins and neuroligins	9	11.4×	5e-05	NRXN1, NRXN3, STX1A, STXBP1, NLGN2, SHANK2, SHANK1, GRIN1 (+1 more)
L1CAM interactions	10	7.7×	1e-04	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, RANBP9, SPTBN5, CHL1 (+2 more)
Phase 0 - rapid depolarisation	6	13.3×	8e-04	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, CAMK2G
Chromatin organization	9	4.7×	0.016	KDM5D, BRWD1, BRPF3, KMT2B, ACTL6B, SETD2, CREBBP, MSL2 (+1 more)
Protein-protein interactions at synapses	5	8.5×	0.028	STX1A, STXBP1, SHANK2, SHANK1, APBA2
Chromatin modifying enzymes	9	4.2×	0.028	KDM5D, BRWD1, BRPF3, KMT2B, ACTL6B, SETD2, CREBBP, MSL2 (+1 more)
Axon guidance	11	3.2×	0.055	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, SEMA5A, SPTBN5, CHL1 (+3 more)
Nervous system development	11	3.0×	0.074	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, SEMA5A, SPTBN5, CHL1 (+3 more)
MECP2 regulates transcription factors	2	29.3×	0.081	RBFOX1, MECP2
Acetylcholine Neurotransmitter Release Cycle	3	12.9×	0.081	STX1A, STXBP1, RIMS1
Serotonin Neurotransmitter Release Cycle	3	12.2×	0.081	STX1A, STXBP1, RIMS1
Norepinephrine Neurotransmitter Release Cycle	3	12.2×	0.081	STX1A, STXBP1, RIMS1
GABA synthesis, release, reuptake and degradation	3	12.2×	0.081	STX1A, STXBP1, RIMS1
Negative regulation of NMDA receptor-mediated neuronal transmission	3	10.5×	0.117	CAMK2G, PPM1F, GRIN1
Cardiac conduction	6	4.2×	0.123	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, CAMK2G
Dopamine Neurotransmitter Release Cycle	3	9.6×	0.134	STX1A, STXBP1, RIMS1
Glutamate Neurotransmitter Release Cycle	3	8.8×	0.146	STX1A, STXBP1, RIMS1
Deactivation of the beta-catenin transactivating complex	4	6.0×	0.146	CHD8, TCF7L2, KMT2B, KMT2D
Transcriptional regulation by RUNX1	5	4.7×	0.146	AUTS2, KMT2B, ACTL6B, CREBBP, KMT2D
NFE2L2 regulating MDR associated enzymes	2	18.3×	0.148	CREBBP, ABCC1
Signaling by RAS mutants	3	8.1×	0.165	CAMK2G, KSR2, ARAF
CHL1 interactions	2	16.3×	0.172	CHL1, CNTN6
Respiratory Syncytial Virus Infection Pathway	4	5.0×	0.211	CCNC, CREBBP, MED9, MED25
RAB GEFs exchange GTP for GDP on RABs	5	4.0×	0.214	CHML, DENND2C, DENND2D, DENND1B, MADD
Neuronal System	9	2.5×	0.217	STX1A, STXBP1, SHANK2, ARHGEF9, CAMK2G, SHANK1, CHRNA1, APBA2 (+1 more)
NRAGE signals death through JNK	4	4.7×	0.236	VAV1, ARHGEF9, AATF, ITSN1
Developmental Biology	19	1.8×	0.254	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, SEMA5A, SHH, STX1A (+11 more)
Defective SRD5A3 causes SRD5A3-CDG, KHRZ	1	73.2×	0.257	SRD5A3
Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M)	1	73.2×	0.257	SLC35A2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 223 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
social behavior	12	14.6×	4e-08	CHD8, DSCAM, NRXN1, NRXN3, CNTNAP2, NLGN2, SHANK3, SHANK2 (+4 more)
vocalization behavior	6	23.9×	8e-05	NRXN1, NRXN3, CNTNAP2, SHANK3, SHANK2, SHANK1
positive regulation of excitatory postsynaptic potential	7	16.5×	8e-05	NRXN1, STX1A, NLGN2, SHANK3, SHANK1, RIMS1, GRIN1
axon guidance	13	5.3×	4e-04	DSCAM, NRXN1, NRXN3, SEMA5A, SHH, CYFIP1, CYFIP2, ARX (+5 more)
neuron cell-cell adhesion	5	22.2×	6e-04	NRXN1, NRXN3, NLGN2, ASTN2, CNTN4
adult behavior	6	12.6×	0.002	NRXN1, NRXN3, CNTNAP2, SHANK3, SHANK2, SHANK1
positive regulation of dendritic spine development	5	17.2×	0.002	NLGN2, SHANK3, SHANK1, FMR1, ITSN1
cardiac muscle cell action potential involved in contraction	5	15.7×	0.002	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
synapse organization	7	8.8×	0.002	NLGN2, SHANK3, SHANK2, SHANK1, CNTN4, CNTN6, DRP2
positive regulation of synaptic transmission, glutamatergic	5	14.0×	0.004	NRXN1, NLGN2, SHANK3, IQSEC2, GRIN1
synapse assembly	7	7.2×	0.007	DSCAM, NRXN1, NLGN2, SHANK3, SHANK2, CAPRIN1, MECP2
dendritic spine morphogenesis	4	15.9×	0.012	HDAC6, SHANK3, SHANK1, EPHB1
vocal learning	3	28.3×	0.013	NRXN1, CNTNAP2, SHANK3
bundle of His cell action potential	2	75.6×	0.016	SCN10A, SCN5A
guanylate kinase-associated protein clustering	2	75.6×	0.016	NRXN1, SHANK3
thymus epithelium morphogenesis	2	75.6×	0.016	FOXN1, AIRE
membrane depolarization during action potential	3	22.7×	0.019	SCN10A, SCN1A, SCN5A
dendrite extension	3	22.7×	0.019	CYFIP1, CYFIP2, AUTS2
neuron development	6	6.9×	0.019	HTRA2, ARX, THOC2, DMD, TENM2, DPYSL3
nervous system development	14	2.9×	0.028	DSCAM, TRIM3, SCN2A, SEMA5A, PCDH10, CAMK2G, ACTL6B, RBFOX1 (+6 more)
SNARE complex assembly	3	18.9×	0.031	STX1A, STXBP1, CLTRN
regulation of respiratory gaseous exchange by nervous system process	3	17.4×	0.034	NLGN2, CC2D1A, MECP2
obsolete synaptic vesicle docking	3	17.4×	0.034	STX1A, RIMS1, UNC13A
neuromuscular process controlling balance	5	7.4×	0.034	NRXN1, NLGN2, SHANK3, SHANK1, ALDH1A3
brain development	10	3.6×	0.034	MACROD2, CHD8, TBR1, CNTNAP2, IMMP2L, ZNF335, CNTN4, CNTN5 (+2 more)
positive regulation of filopodium assembly	4	10.1×	0.034	ARAP1, TENM2, DPYSL3, FMR1
sodium ion transmembrane transport	6	5.5×	0.043	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, GRIN1
membraneless organelle assembly	3	15.1×	0.047	WNK3, FMR1, CAPRIN1
AV node cell action potential	2	37.8×	0.051	SCN10A, SCN5A
dendrite self-avoidance	3	14.2×	0.051	DSCAM, CNTN4, CNTN6

Therapeutics

Drugs indicated for this disease

3 approved, 15 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Aripiprazole	Approved (phase 4)
Melatonin	Approved (phase 4)
Risperidone	Approved (phase 4)
Atomoxetine	Phase 3 (in late-stage trials)
Bumetanide	Phase 3 (in late-stage trials)
Chymotrypsin	Phase 3 (in late-stage trials)
Cycloserine	Phase 3 (in late-stage trials)
Fluoxetine	Phase 3 (in late-stage trials)
Fluvoxamine	Phase 3 (in late-stage trials)
Galantamine	Phase 3 (in late-stage trials)
Lurasidone	Phase 3 (in late-stage trials)
Paliperidone	Phase 3 (in late-stage trials)
Secretin	Phase 3 (in late-stage trials)
Secretin Synthetic Human	Phase 3 (in late-stage trials)
Secretin Synthetic Porcine	Phase 3 (in late-stage trials)
Sertraline	Phase 3 (in late-stage trials)
Sulforaphane	Phase 3 (in late-stage trials)
Valproic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Acetylcysteine, Autologous Cord Blood, Buspirone, Cannabidiol, Cannabinol, Cholecalciferol, Cyanocobalamin, Dextromethorphan, Diphenhydramine, Esomeprazole, Folic Acid, Lenalidomide, Memantine, Nabiximols, OMEGA-3-ACID ETHYL ESTERS, Olanzapine, Oxytocin, Pregnenolone Succinate, Racemetyrosine, Sapropterin, Succimer, Suvorexant, Vasopressin, Ziprasidone, Zolpidem.

Drug target analysis

Approved (phase 4): 15 · Phase ≥3: 15 · Phased (≥1): 17 · Undrugged: 57

Druggability breadth: 98 of 250 evidence-associated genes (39%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
SIK3	MOMELOTINIB
RPL17	GENTAMICIN SULFATE
RPL23	GENTAMICIN SULFATE
SCN10A	IMIPRAMINE
SCN1A	MEXILETINE HYDROCHLORIDE
SCN2A	BEPRIDIL
SCN5A	BEPRIDIL
SCN8A	IMIPRAMINE
SHH	VISMODEGIB
CDKL5	FEDRATINIB
DAGLA	ORLISTAT
HDAC6	EVANS BLUE FREE ACID
CAMK2G	MOMELOTINIB
TAS2R1	ISOPROTERENOL
CCNC	SORAFENIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN5A	108	4
SCN2A	99	4
SCN1A	94	4
HDAC6	94	4
CAMK2G	39	4
SIK3	25	4
SCN8A	25	4
SCN10A	21	4
CDKL5	14	4
CCNC	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
MOMELOTINIB	4	CAMK2G, SIK3
FEDRATINIB	4	CAMK2G, CDKL5, SCN5A, SIK3
RUXOLITINIB	4	CAMK2G, HDAC6, SIK3
DABRAFENIB	4	SIK3
VANDETANIB	4	SIK3
BOSUTINIB	4	CAMK2G, SIK3
DASATINIB	4	SCN5A, SIK3
MIDOSTAURIN	4	CAMK2G, SIK3
GENTAMICIN SULFATE	4	RPL17, RPL23
IMIPRAMINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
SERTINDOLE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
PIMOZIDE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
NIFEDIPINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
DILTIAZEM	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
MIBEFRADIL	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
HALOPERIDOL	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
MEXILETINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
AMITRIPTYLINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
AMIODARONE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
CHLORPROMAZINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
LAMOTRIGINE	4	SCN10A, SCN2A, SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN1A, SCN5A
BEPRIDIL	4	SCN1A, SCN2A, SCN5A
DIBUCAINE	4	SCN1A, SCN2A, SCN5A
ARTICAINE	4	SCN1A, SCN2A
BUPIVACAINE	4	SCN1A, SCN2A
DROPERIDOL	4	SCN1A, SCN2A, SCN5A
DICYCLOMINE	4	SCN1A, SCN2A
TETRABENAZINE	4	SCN1A, SCN2A
PHENIRAMINE	4	SCN1A, SCN2A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 12.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
HDAC6	3,537	Binding:3494, ADMET:35, Functional:5, Toxicity:3
SCN5A	594	Binding:380, Functional:98, ADMET:72, Toxicity:43, Unclassified:1
CAMK2G	291	Binding:290, Functional:1
CCNC	226	Binding:226
SCN2A	203	Binding:172, Functional:20, ADMET:10, Toxicity:1
SIK3	173	Binding:173
SCN8A	173	Binding:148, Functional:16, ADMET:7, Toxicity:2
SCN1A	149	Binding:115, Functional:18, ADMET:14, Toxicity:2
SCN10A	144	Binding:124, Functional:16, ADMET:4
WNK3	142	Binding:142
RPL17	90	Binding:90
RPL23	90	Binding:90
BRPF3	89	Binding:88, Functional:1
CDKL5	74	Binding:74
DAGLA	48	Binding:48
BRWD1	37	Binding:37
TAS2R1	30	Functional:28, Binding:2
SHH	27	Binding:23, Functional:4
TCF7L2	22	Binding:22
ACR	20	Binding:18, Functional:2
KMT2B	15	Binding:15
HTRA2	11	Binding:11
PCDH15	9	Binding:9
CHD8	7	Binding:7
CYFIP1	7	Binding:7
MACROD2	4	Binding:2, Toxicity:2
AMPD1	3	Binding:3
KDM5D	3	Binding:3
SLC35A2	1	ADMET:1
STXBP1	1	Binding:1
VAV1	1	Binding:1
CYFIP2	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
MACROD2	3.1.1.106	O-acetyl-ADP-ribose deacetylase
AMPD1	3.5.4.6	AMP deaminase
RPE65	3.1.1.64, 5.3.3.22	retinoid isomerohydrolase, lutein isomerase
KDM5D	1.14.11.67	[histone H3]-trimethyl-L-lysine4 demethylase
CDKL5	2.7.11.22	cyclin-dependent kinase
DAGLA	3.1.1.116	sn-1-specific diacylglycerol lipase
ACR	3.4.21.10	acrosin
ATP10D	7.6.2.1	P-type phospholipid transporter
HDAC6	3.5.1.98	histone deacetylase
HTRA2	3.4.21.108	HtrA2 peptidase
CAMK2G	2.7.11.17	Ca2+/calmodulin-dependent protein kinase
KIF16B	5.6.1.3	plus-end-directed kinesin ATPase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
SIK3	173
SCN10A	144
SCN1A	149
SCN2A	203
SCN5A	594
SCN8A	173
HDAC6	3,537
WNK3	142
CAMK2G	291
CCNC	226

Pharmacogenomics

Cohort genes with a PharmGKB record: 74; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
MOMELOTINIB	4	CAMK2G, SIK3
FEDRATINIB	4	CAMK2G, CDKL5, SCN5A, SIK3
RUXOLITINIB	4	CAMK2G, HDAC6, SIK3
DABRAFENIB	4	SIK3
VANDETANIB	4	SIK3
BOSUTINIB	4	CAMK2G, SIK3
DASATINIB	4	SCN5A, SIK3
MIDOSTAURIN	4	CAMK2G, SIK3
GENTAMICIN SULFATE	4	RPL17, RPL23
IMIPRAMINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
SERTINDOLE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
PIMOZIDE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
NIFEDIPINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
DILTIAZEM	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
MIBEFRADIL	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
HALOPERIDOL	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
MEXILETINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
AMIODARONE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
CHLORPROMAZINE	4	SCN10A, SCN1A, SCN2A, SCN5A, SCN8A
LAMOTRIGINE	4	SCN10A, SCN2A, SCN5A
MEXILETINE HYDROCHLORIDE	4	SCN1A, SCN5A
BEPRIDIL	4	SCN1A, SCN2A, SCN5A
DIBUCAINE	4	SCN1A, SCN2A, SCN5A
ARTICAINE	4	SCN1A, SCN2A
BUPIVACAINE	4	SCN1A, SCN2A
DROPERIDOL	4	SCN1A, SCN2A, SCN5A
DICYCLOMINE	4	SCN1A, SCN2A
TETRABENAZINE	4	SCN1A, SCN2A
PHENIRAMINE	4	SCN1A, SCN2A

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	15	SIK3, RPL17, RPL23, SCN10A, SCN1A, SCN2A, SCN5A, SCN8A, SHH, CDKL5 (+5 more)
B	Phased (≥1) drug, not yet approved	2	CHD8, WNK3
C	Druggable family + PDB, no drug	6	MACROD2, DSCAM, SEZ6L, CSMD1, HTRA2, KIF16B
D	Druggable family + AlphaFold only, no drug	4	AMPD1, IMMP2L, RPE65, ACR
E	Difficult family or no structure, no drug	47	NRXN1, NRXN3, TBR1, PCDH10, SHANK1, RIMS1, ZNF713, TRIM3, BDH1, SEMA5A (+37 more)

Undrugged target profiles

57 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PCDH10	0	SCN1A, CDKL5
SEMA5A	0	TAS2R1
MACROD2	4	—
DSCAM	0	—
AMPD1	3	—
NRXN1	0	—
NRXN3	0	—
TBR1	0	—
IMMP2L	0	—
SHANK1	0	—
RIMS1	0	—
ZNF713	0	—
TRIM3	0	—
BDH1	0	—
RPE65	0	—
SEZ6L	0	—
SLC35A2	1	—
KDM5D	3	—
STX1A	0	—
STXBP1	1	—
TAF1C	0	—
TCF20	0	—
TCF7L2	22	—
FAM3B	0	—
ACR	20	—
UTY	0	—
VAV1	1	—
BRWD1	37	—
FOXN1	0	—
ZNF185	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1,835.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	736
PHASE2	167
PHASE1	60
PHASE3	44
PHASE4	29
PHASE1/PHASE2	29
PHASE2/PHASE3	19
EARLY_PHASE1	16

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00211796	PHASE4	COMPLETED	Divalproex Sodium ER in Adult Autism
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT00409747	PHASE4	COMPLETED	Minocycline to Treat Childhood Regressive Autism
NCT00576732	PHASE4	COMPLETED	A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder
NCT00844753	PHASE4	COMPLETED	Atomoxetine, Placebo and Parent Management Training in Autism
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01098383	PHASE4	UNKNOWN	Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02069977	PHASE4	UNKNOWN	Study to Evaluate the Efficacy and Safety of Aripiprazole
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02199925	PHASE4	UNKNOWN	An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02255565	PHASE4	COMPLETED	Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT02649959	PHASE3	ACTIVE_NOT_RECRUITING	An Open Label Study of CM-AT for the Treatment of Children With Autism
NCT04766177	PHASE3	RECRUITING	Role of Bumetanide in Treatment of Autism
NCT05268796	PHASE2/PHASE3	RECRUITING	Telehealth-Enabled Versus In-Person Parent-Mediated Behavioral Treatment for Challenging Behaviors in Children With ASD
NCT05494398	PHASE2/PHASE3	ENROLLING_BY_INVITATION	Targeting the Neurobiology of RRB in Autism Using N-acetylcysteine: Open Label
NCT05664789	PHASE2/PHASE3	RECRUITING	Targeting the Neurobiology of RRB in Autism Using N-acetylcysteine: Trial
NCT06229210	PHASE3	RECRUITING	Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder
NCT07257939	PHASE3	NOT_YET_RECRUITING	NTI164 in Autism Spectrum Disorder
NCT07450443	PHASE2/PHASE3	RECRUITING	Role of the Gut Vascular Barrier and Microbiota in Autism Spectrum Disorders
NCT00036231	PHASE3	TERMINATED	Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction
NCT00036244	PHASE3	COMPLETED	Synthetic Human Secretin in Children With Autism
NCT00065884	PHASE3	UNKNOWN	Valproate Response in Aggressive Autistic Adolescents

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
VALPROIC ACID	4	7
ATOMOXETINE	4	6
BUSPIRONE	4	6
CARIPRAZINE	4	6
BUMETANIDE	4	5
MEMANTINE	4	5
AMITRIPTYLINE	4	3
DONEPEZIL	4	3
FLUVOXAMINE	4	3
LURASIDONE	4	3
RILUZOLE	4	3
ZIPRASIDONE	4	3
ARIPIPRAZOLE	4	2
METFORMIN	4	2
OXYTOCIN	4	2
VASOPRESSIN	4	2
ACAMPROSATE	4	1
ACETYLCYSTEINE	4	1
AMPHETAMINE	4	1
BETAHISTINE	4	1
CHOLINE	4	1
FERROUS SULFATE	4	1
GABAPENTIN	4	1
GALANTAMINE	4	1
GLYCERIN	4	1
HUMAN IMMUNOGLOBULIN G	4	1
LISDEXAMFETAMINE DIMESYLATE	4	1
LITHIUM CARBONATE	4	1
LUMATEPERONE	4	1
MELATONIN	4	1