Neurodevelopmental disorder

Summary

Neurodevelopmental disorder (MONDO:0700092) is a disease (an umbrella term covering 21 Mondo subtypes) caused by variants in ARHGAP35, CELF4, GSK3B, and 152 other genes, with 134 cohort genes and 202 clinical trials. The dominant Reactome pathway is Chromatin organization (17 cohort genes). Top therapeutic interventions include glycopyrronium bromide, isoflurane, and levocarnitine.

At a glance

• Causal genes: ARHGAP35 (GenCC Definitive), CELF4 (GenCC Definitive), GSK3B (GenCC Definitive), NONO (GenCC Definitive) (+151 more)
• Umbrella term: 21 Mondo subtypes
• Cohort genes: 134
• ClinVar variants: 1,242
• Clinical trials: 202

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	neurodevelopmental disorder
Mondo ID	MONDO:0700092
EFO	EFO:0010642
MeSH	D065886
NCIT	C89338
SNOMED CT	700364009
UMLS	C1535926
MedGen	453059
MedDRA	10064062
Is cancer (heuristic)	no

Data availability: 1,242 ClinVar variants · 369 GenCC gene-disease records.

Disease family

An umbrella term covering 21 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder

Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, locked-in syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction

Subtypes (21): intellectual disability, microcephaly, Williams syndrome, Aicardi syndrome, Hao-Fountain syndrome, toluene embryopathy, alternating hemiplegia, atypical Rett syndrome, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, complex neurodevelopmental disorder, Mendelian neurodevelopmental disorder, TCF7L2-related neurodevelopmental disorder, neurodevelopmental disorder with seizures and brain abnormalities, Yoon-Bellen neurodevelopmental syndrome, neurodevelopmental disorder with microcephaly, hypotonia, and absent language, neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss, neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies, neurodevelopmental disorder with parkinsonism or other movement abnormalities, neurodevelopmental disorder with seizures and impaired intellectual and language development, Ebstein-Bezieau neurodevelopmental syndrome, Luo-Agrawal neurodevelopmental syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

600 retrieved; paginated sample, class counts are floors:

215 uncertain significance, 150 likely pathogenic, 131 pathogenic, 49 pathogenic/likely pathogenic, 45 conflicting classifications of pathogenicity, 5 likely benign, 3 not provided, 1 benign/likely benign, 1 conflicting classifications of pathogenicity; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	AARD	Pathogenic	criteria provided, single submitter
2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	ABLIM2	Pathogenic	criteria provided, single submitter
1333095	NM_017736.5(THUMPD1):c.495dup (p.Ser166fs)	ACSM3	Pathogenic	criteria provided, single submitter
1333097	NM_017736.5(THUMPD1):c.341T>G (p.Leu114Ter)	ACSM3	Pathogenic	criteria provided, single submitter
1333098	NM_017736.5(THUMPD1):c.303_306del (p.Glu102fs)	ACSM3	Pathogenic	criteria provided, single submitter
1333099	NM_017736.5(THUMPD1):c.469C>T (p.Arg157Ter)	ACSM3	Pathogenic	criteria provided, single submitter
1333100	NM_017736.5(THUMPD1):c.490C>T (p.Pro164Ser)	ACSM3	Pathogenic	criteria provided, single submitter
1333102	NM_017736.5(THUMPD1):c.634dup (p.Glu212fs)	ACSM3	Pathogenic	criteria provided, multiple submitters, no conflicts
190278	NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)	ADNP	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
203534	NM_145207.3(AFG2A):c.251G>A (p.Arg84Gln)	AFG2A	Pathogenic	criteria provided, multiple submitters, no conflicts
1316034	NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)	AGO2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1429166	NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg)	AGRN	Pathogenic	criteria provided, multiple submitters, no conflicts
2627825	NM_001371928.1(AHDC1):c.2432C>A (p.Ser811Ter)	AHDC1	Pathogenic	criteria provided, single submitter
1210151	GRCh37/hg19 9p13.2-13.1(chr9:36426622-38787479)x1	ALDH1B1	Pathogenic	no assertion criteria provided
1210152	GRCh37/hg19 9p13.2-13.1(chr9:36442195-39156958)x1	ALDH1B1	Pathogenic	no assertion criteria provided
1064814	NM_020778.5(ALPK3):c.4154del (p.Pro1385fs)	ALPK3	Pathogenic	criteria provided, multiple submitters, no conflicts
1321993	NM_013275.6(ANKRD11):c.6923del (p.Gly2308fs)	ANKRD11	Pathogenic	criteria provided, single submitter
1701846	NM_013275.6(ANKRD11):c.6928_6934del (p.Ile2310fs)	ANKRD11	Pathogenic	criteria provided, single submitter
2627833	NM_013275.6(ANKRD11):c.5469del (p.Met1825fs)	ANKRD11	Pathogenic	criteria provided, single submitter
234925	NM_001128126.3(AP4S1):c.138+3_138+6del	AP4S1	Pathogenic	criteria provided, multiple submitters, no conflicts
2579288	GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1	ARFGAP1	Pathogenic	criteria provided, single submitter
2500753	NM_004491.5(ARHGAP35):c.2814dup (p.Lys939Ter)	ARHGAP35	Pathogenic	criteria provided, single submitter
1210154	GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1	ARHGEF39	Pathogenic	no assertion criteria provided
1321937	NM_152641.4(ARID2):c.2734C>T (p.Gln912Ter)	ARID2	Pathogenic	criteria provided, single submitter
2627827	NM_018489.3(ASH1L):c.3860_3861del (p.Phe1287fs)	ASH1L	Pathogenic	criteria provided, single submitter
203629	NM_000048.4(ASL):c.1045_1057del (p.Val349fs)	ASL	Pathogenic	criteria provided, multiple submitters, no conflicts
1064807	NM_030632.3(ASXL3):c.3403_3405delinsCC (p.Ser1135fs)	ASXL3	Pathogenic	criteria provided, single submitter
1679165	NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)	ATP2B1	Pathogenic	criteria provided, single submitter
1679167	NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter)	ATP2B1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1297484	NM_001001331.4(ATP2B2):c.1508C>T (p.Thr503Met)	ATP2B2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 439 · Orphanet: 81 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

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
ARHGAP35	Definitive	Autosomal dominant	neurodevelopmental disorder	7
BRSK2	Definitive	Autosomal dominant	complex neurodevelopmental disorder	5
CACNA1G	Definitive	Autosomal dominant	spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	11
CELF4	Definitive	Autosomal dominant	neurodevelopmental disorder	2
DIP2C	Definitive	Autosomal dominant	complex neurodevelopmental disorder	2
GRIN2A	Definitive	Autosomal dominant	complex neurodevelopmental disorder	12
NR4A2	Definitive	Autosomal dominant	complex neurodevelopmental disorder	4
SATB1	Definitive	Autosomal dominant	complex neurodevelopmental disorder	5
SMARCA1	Definitive	X-linked	neurodevelopmental disorder	3
TCF7L2	Definitive	Autosomal dominant	neurodevelopmental disorder	4
UBR5	Definitive	Autosomal dominant	neurodevelopmental disorder	3
VCP	Definitive	Autosomal dominant	complex neurodevelopmental disorder	13
ZFHX3	Definitive	Autosomal dominant	complex neurodevelopmental disorder	7
ZFHX4	Definitive	Autosomal dominant	neurodevelopmental disorder	6
ADD1	Strong	Semidominant	neurodevelopmental disorder
ANK2	Strong	Autosomal dominant	complex neurodevelopmental disorder	11
ANK3	Strong	Semidominant	neurodevelopmental disorder	7
AP1G1	Strong	Semidominant	neurodevelopmental disorder	5
AP2S1	Strong	Autosomal dominant	neurodevelopmental disorder	8
ATG4D	Strong	Autosomal recessive	neurodevelopmental disorder	3
ATP2B2	Strong	Autosomal dominant	neurodevelopmental disorder	6
BAZ2B	Strong	Autosomal dominant	neurodevelopmental disorder	3
BHLHE22	Strong	Autosomal dominant	neurodevelopmental disorder
CTNND2	Strong	Autosomal dominant	complex neurodevelopmental disorder	3
DDX17	Strong	Autosomal dominant	neurodevelopmental disorder
DDX23	Strong	Autosomal dominant	neurodevelopmental disorder	2
EEF1D	Strong	Autosomal recessive	neurodevelopmental disorder
EP400	Strong	Autosomal recessive	neurodevelopmental disorder with or without early-onset generalized epilepsy	3
FEM1C	Strong	Autosomal dominant	neurodevelopmental disorder	2
FEZF2	Strong	Autosomal dominant	neurodevelopmental disorder	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SATB1	Orphanet:684232	Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
SMARCA5	Orphanet:370334	Extraskeletal Ewing sarcoma
SMARCD1	Orphanet:1465	Coffin-Siris syndrome
SNAP25	Orphanet:98914	Presynaptic congenital myasthenic syndromes
SPAST	Orphanet:100985	Autosomal dominant spastic paraplegia type 4
BRSK2	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
TOP2B	Orphanet:567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
JMJD1C	Orphanet:567	22q11.2 deletion syndrome
JMJD1C	Orphanet:91352	Germinoma of the central nervous system
VCP	Orphanet:100070	Progressive non-fluent aphasia
VCP	Orphanet:275864	Behavioral variant of frontotemporal dementia
VCP	Orphanet:275872	Frontotemporal dementia with motor neuron disease
VCP	Orphanet:329475	Spastic paraplegia-Paget disease of bone syndrome
VCP	Orphanet:329478	Adult-onset distal myopathy due to VCP mutation
VCP	Orphanet:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y
VCP	Orphanet:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
VCP	Orphanet:803	Amyotrophic lateral sclerosis
NSD2	Orphanet:280	Wolf-Hirschhorn syndrome
KMT2C	Orphanet:261652	Kleefstra syndrome due to a point mutation
MED12L	Orphanet:528084	Non-specific syndromic intellectual disability
SUFU	Orphanet:2495	Meningioma
SUFU	Orphanet:251858	Medulloblastoma with extensive nodularity
SUFU	Orphanet:251863	Desmoplastic/nodular medulloblastoma
SUFU	Orphanet:263662	Familial multiple meningioma
SUFU	Orphanet:280200	Microform holoprosencephaly
SUFU	Orphanet:377	Gorlin syndrome
SUFU	Orphanet:475	Isolated Joubert syndrome
SYNCRIP	Orphanet:528084	Non-specific syndromic intellectual disability
PRPF8	Orphanet:528084	Non-specific syndromic intellectual disability
PRPF8	Orphanet:791	Retinitis pigmentosa
KDM5B	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
KDM5B	Orphanet:88616	Autosomal recessive non-syndromic intellectual disability
SIN3B	Orphanet:500166	SIN3-related intellectual disability syndrome due to a point mutation
WDFY3	Orphanet:528084	Non-specific syndromic intellectual disability
UNC13A	Orphanet:803	Amyotrophic lateral sclerosis
MYCBP2	Orphanet:528084	Non-specific syndromic intellectual disability
CTNND2	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
CTNND2	Orphanet:281	Monosomy 5p syndrome
CTNND2	Orphanet:86814	Familial adult myoclonic epilepsy
SETD1A	Orphanet:528084	Non-specific syndromic intellectual disability
ZFHX4	Orphanet:91411	Congenital ptosis
EEF2	Orphanet:101112	Spinocerebellar ataxia type 26
GRIN2A	Orphanet:163721	Rolandic epilepsy-speech dyspraxia syndrome
GRIN2A	Orphanet:1945	Self-limited epilepsy with centrotemporal spikes
GRIN2A	Orphanet:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
GRIN2A	Orphanet:725	Developmental and epileptic encephalopathy with spike-wave activation in sleep
GRIN2A	Orphanet:98818	Landau-Kleffner syndrome
HIRA	Orphanet:567	22q11.2 deletion syndrome
ANK2	Orphanet:101016	Romano-Ward syndrome
ANK3	Orphanet:356996	ANK3-related intellectual disability-sleep disturbance syndrome

Cohort genes → proteins

134 cohort genes, 132 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	134

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RNU2-2	HGNC:10152	ENSG00000222328		RNA, U2 small nuclear 2	gencc,clinvar
SATB1	HGNC:10541	ENSG00000182568	Q01826	DNA-binding protein SATB1	gencc,clinvar
SMARCA1	HGNC:11097	ENSG00000102038	P28370	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1	gencc,clinvar
SMARCA5	HGNC:11101	ENSG00000153147	O60264	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5	gencc,clinvar
SMARCD1	HGNC:11106	ENSG00000066117	Q96GM5	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1	gencc,clinvar
SNAP25	HGNC:11132	ENSG00000132639	P60880	Synaptosomal-associated protein 25	gencc,clinvar
SPAST	HGNC:11233	ENSG00000021574	Q9UBP0	Spastin	gencc,clinvar
BRSK2	HGNC:11405	ENSG00000174672	Q8IWQ3	Serine/threonine-protein kinase BRSK2	gencc,clinvar
EP400	HGNC:11958	ENSG00000183495	Q96L91	E1A-binding protein p400	gencc,clinvar
TOP2B	HGNC:11990	ENSG00000077097	Q02880	DNA topoisomerase 2-beta	gencc,clinvar
JMJD1C	HGNC:12313	ENSG00000171988	Q15652	Jumonji domain-containing protein 1C	gencc,clinvar
VCP	HGNC:12666	ENSG00000165280	P55072	Transitional endoplasmic reticulum ATPase	gencc,clinvar
WBP4	HGNC:12739	ENSG00000120688	O75554	WW domain-binding protein 4	gencc,clinvar
WDR5	HGNC:12757	ENSG00000196363	P61964	WD repeat-containing protein 5	gencc,clinvar
NSD2	HGNC:12766	ENSG00000109685	O96028	Histone-lysine N-methyltransferase NSD2	gencc,clinvar
FEZF2	HGNC:13506	ENSG00000153266	Q8TBJ5	Fez family zinc finger protein 2	gencc,clinvar
KDM2A	HGNC:13606	ENSG00000173120	Q9Y2K7	Lysine-specific demethylase 2A	gencc,clinvar
KDM2B	HGNC:13610	ENSG00000089094	Q8NHM5	Lysine-specific demethylase 2B	gencc,clinvar
KMT2C	HGNC:13726	ENSG00000055609	Q8NEZ4	Histone-lysine N-methyltransferase 2C	gencc,clinvar
CPSF6	HGNC:13871	ENSG00000111605	Q16630	Cleavage and polyadenylation specificity factor subunit 6	gencc,clinvar
CELF4	HGNC:14015	ENSG00000101489	Q9BZC1	CUGBP Elav-like family member 4	gencc,clinvar
SHANK1	HGNC:15474	ENSG00000161681	Q9Y566	SH3 and multiple ankyrin repeat domains protein 1	gencc,clinvar
CBX1	HGNC:1551	ENSG00000108468	P83916	Chromobox protein homolog 1	gencc,clinvar
SPTBN5	HGNC:15680	ENSG00000137877	Q9NRC6	Spectrin beta chain, non-erythrocytic 5	gencc,clinvar
MED12L	HGNC:16050	ENSG00000144893	Q86YW9	Mediator of RNA polymerase II transcription subunit 12-like protein	gencc,clinvar
SUFU	HGNC:16466	ENSG00000107882	Q9UMX1	Suppressor of fused homolog	gencc,clinvar
DHX34	HGNC:16719	ENSG00000134815	Q14147	Probable ATP-dependent RNA helicase DHX34	gencc,clinvar
UBR5	HGNC:16806	ENSG00000104517	O95071	E3 ubiquitin-protein ligase UBR5	gencc,clinvar
TAOK2	HGNC:16835	ENSG00000149930	Q9UL54	Serine/threonine-protein kinase TAO2	gencc,clinvar
SYNCRIP	HGNC:16918	ENSG00000135316	O60506	Heterogeneous nuclear ribonucleoprotein Q	gencc,clinvar
FEM1C	HGNC:16933	ENSG00000145780	Q96JP0	Protein fem-1 homolog C	gencc,clinvar
PRPF8	HGNC:17340	ENSG00000174231	Q6P2Q9	Pre-mRNA-processing-splicing factor 8	gencc,clinvar
DDX23	HGNC:17347	ENSG00000174243	Q9BUQ8	Probable ATP-dependent RNA helicase DDX23	gencc,clinvar
KDM5B	HGNC:18039	ENSG00000117139	Q9UGL1	Lysine-specific demethylase 5B	gencc,clinvar
MAST4	HGNC:19037	ENSG00000069020	O15021	Microtubule-associated serine/threonine-protein kinase 4	gencc,clinvar
SIN3B	HGNC:19354	ENSG00000127511	O75182	Paired amphipathic helix protein Sin3b	gencc,clinvar
CNKSR1	HGNC:19700	ENSG00000142675	Q969H4	Connector enhancer of kinase suppressor of ras 1	gencc,clinvar
UNC79	HGNC:19966	ENSG00000133958	Q9P2D8	Protein unc-79 homolog	gencc,clinvar
HECTD1	HGNC:20157	ENSG00000092148	Q9ULT8	E3 ubiquitin-protein ligase HECTD1	gencc,clinvar
CLDN5	HGNC:2047	ENSG00000184113	O00501	Claudin-5	gencc,clinvar
WDFY3	HGNC:20751	ENSG00000163625	Q8IZQ1	WD repeat and FYVE domain-containing protein 3	gencc,clinvar
ATG4D	HGNC:20789	ENSG00000130734	Q86TL0	Cysteine protease ATG4D	gencc,clinvar
FOXP4	HGNC:20842	ENSG00000137166	Q8IVH2	Forkhead box protein P4	gencc,clinvar
SLC35F1	HGNC:21483	ENSG00000196376	Q5T1Q4	Solute carrier family 35 member F1	gencc,clinvar
UNC13A	HGNC:23150	ENSG00000130477	Q9UPW8	Protein unc-13 homolog A	gencc,clinvar
MYCBP2	HGNC:23386	ENSG00000005810	O75592	E3 ubiquitin-protein ligase MYCBP2	gencc,clinvar
ADD1	HGNC:243	ENSG00000087274	P35611	Alpha-adducin	gencc,clinvar
KLHL20	HGNC:25056	ENSG00000076321	Q9Y2M5	Kelch-like protein 20	gencc,clinvar
CTNND2	HGNC:2516	ENSG00000169862	Q9UQB3	Catenin delta-2	gencc,clinvar
PARP6	HGNC:26921	ENSG00000137817	Q2NL67	Protein mono-ADP-ribosyltransferase PARP6	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SATB1	DNA-binding protein SATB1	Crucial silencing factor contributing to the initiation of X inactivation mediated by Xist RNA that occurs during embryogenesis and in lymphoma.
SMARCA1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1	ATPase that possesses intrinsic ATP-dependent chromatin-remodeling activity.
SMARCA5	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5	ATPase that possesses intrinsic ATP-dependent nucleosome-remodeling activity.
SMARCD1	SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1	Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).
SNAP25	Synaptosomal-associated protein 25	t-SNARE involved in the molecular regulation of neurotransmitter release.
SPAST	Spastin	ATP-dependent microtubule severing protein that specifically recognizes and cuts microtubules that are polyglutamylated.
BRSK2	Serine/threonine-protein kinase BRSK2	Serine/threonine-protein kinase that plays a key role in polarization of neurons and axonogenesis, cell cycle progress and insulin secretion.
EP400	E1A-binding protein p400	Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A.
TOP2B	DNA topoisomerase 2-beta	Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken stra…
JMJD1C	Jumonji domain-containing protein 1C	Demethylates lysine in proteins, such as STAT3 or MDC1.
VCP	Transitional endoplasmic reticulum ATPase	Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis.
WBP4	WW domain-binding protein 4	Involved in pre-mRNA splicing as a component of the spliceosome.
WDR5	WD repeat-containing protein 5	Contributes to histone modification.
NSD2	Histone-lysine N-methyltransferase NSD2	Histone methyltransferase which specifically dimethylates nucleosomal histone H3 at ‘Lys-36’ (H3K36me2).
FEZF2	Fez family zinc finger protein 2	Transcription repressor.
KDM2A	Lysine-specific demethylase 2A	Histone demethylase that specifically demethylates ‘Lys-36’ of histone H3, thereby playing a central role in histone code.
KDM2B	Lysine-specific demethylase 2B	Histone demethylase that demethylates ‘Lys-4’ and ‘Lys-36’ of histone H3, thereby playing a central role in histone code.
KMT2C	Histone-lysine N-methyltransferase 2C	Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of ‘Lys-4’ of histone H3 (H3K4).
CPSF6	Cleavage and polyadenylation specificity factor subunit 6	Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3’-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs.
CELF4	CUGBP Elav-like family member 4	RNA-binding protein implicated in the regulation of pre-mRNA alternative splicing.
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…
CBX1	Chromobox protein homolog 1	Component of heterochromatin, which recognizes and binds histone H3 tails methylated at ‘Lys-9’, leading to epigenetic repression.
MED12L	Mediator of RNA polymerase II transcription subunit 12-like protein	May be a component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes.
SUFU	Suppressor of fused homolog	Negative regulator in the hedgehog/smoothened signaling pathway.
DHX34	Probable ATP-dependent RNA helicase DHX34	Probable ATP-binding RNA helicase required for nonsense-mediated decay (NMD) degradation of mRNA transcripts containing premature stop codons.
UBR5	E3 ubiquitin-protein ligase UBR5	E3 ubiquitin-protein ligase involved in different protein quality control pathways in the cytoplasm and nucleus.
TAOK2	Serine/threonine-protein kinase TAO2	Serine/threonine-protein kinase involved in different processes such as membrane blebbing and apoptotic bodies formation DNA damage response and MAPK14/p38 MAPK stress-activated MAPK cascade.
SYNCRIP	Heterogeneous nuclear ribonucleoprotein Q	Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms.
FEM1C	Protein fem-1 homolog C	Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to…
PRPF8	Pre-mRNA-processing-splicing factor 8	Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome.
DDX23	Probable ATP-dependent RNA helicase DDX23	Involved in pre-mRNA splicing and its phosphorylated form (by SRPK2) is required for spliceosomal B complex formation.
KDM5B	Lysine-specific demethylase 5B	Histone demethylase that demethylates ‘Lys-4’ of histone H3, thereby playing a central role in histone code.
SIN3B	Paired amphipathic helix protein Sin3b	Acts as a transcriptional repressor.
CNKSR1	Connector enhancer of kinase suppressor of ras 1	May function as an adapter protein or regulator of Ras signaling pathways.
UNC79	Protein unc-79 homolog	Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability.
HECTD1	E3 ubiquitin-protein ligase HECTD1	E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates.
CLDN5	Claudin-5	Plays a major role in tight junction-specific obliteration of the intercellular space.
WDFY3	WD repeat and FYVE domain-containing protein 3	Required for selective macroautophagy (aggrephagy).
ATG4D	Cysteine protease ATG4D	Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins.
FOXP4	Forkhead box protein P4	Transcriptional repressor that represses lung-specific expression.
SLC35F1	Solute carrier family 35 member F1	Putative solute transporter.
UNC13A	Protein unc-13 homolog A	Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway.
MYCBP2	E3 ubiquitin-protein ligase MYCBP2	Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues.
ADD1	Alpha-adducin	Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network.
KLHL20	Kelch-like protein 20	Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport.
CTNND2	Catenin delta-2	Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses.
PARP6	Protein mono-ADP-ribosyltransferase PARP6	Mono-ADP-ribosyltransferase that mediates mono-ADP-ribosylation of target proteins.
DDX17	Probable ATP-dependent RNA helicase DDX17	As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis.
SETD1A	Histone-lysine N-methyltransferase SETD1A	Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of ‘Lys-4’ of histone H3 (H3K4) via a non-processive mechanism.
RALGAPB	Ral GTPase-activating protein subunit beta	Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.

Protein-family classification

Druggable: 29 · Difficult: 47 · Unknown: 58 · Druggable fraction: 0.22

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
Transcription factor	32	2.0×	0.001
Ion channel	6	5.0×	0.007
Scaffold/PPI	15	1.9×	0.039
Nuclear receptor	1	2.9×	0.810
Phosphatase	2	1.2×	0.977
Kinase	5	1.0×	0.977
Enzyme (other)	10	0.9×	0.999
Other/Unknown	58	0.8×	0.999
Transporter	1	0.6×	0.999
Protease	2	0.6×	0.999
Antibody/Immunoglobulin	2	0.4×	0.999

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RNU2-2	Other/Unknown	no
SATB1	Transcription factor	no		HD, CUT_dom, Homeodomain-like_sf
SMARCA1	Transcription factor	no		SNF2_N, SANT/Myb, Helicase_C-like
SMARCA5	Transcription factor	no		SNF2_N, SANT/Myb, Helicase_C-like
SMARCD1	Other/Unknown	no		SWIB_MDM2_domain, SWIB_domain, SWIB_MDM2_dom_sf
SNAP25	Other/Unknown	no		T_SNARE_dom, SNAP-25_dom, SNAP-25_N_SNARE_chord
SPAST	Enzyme (other)	yes	5.6.1.1	AAA+_ATPase, ATPase_AAA_core, ATPase_AAA_CS
BRSK2	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
EP400	Other/Unknown	no		SNF2_N, SANT/Myb, Helicase_C-like
TOP2B	Enzyme (other)	yes	5.6.2.2	TopoII_euk, Topo_IIA, Topo_IIA_dom_A
JMJD1C	Enzyme (other)	yes	1.14.11.65	JmjC_dom, LSDs-like, KDM3A/B_DUF7030
VCP	Enzyme (other)	yes	3.6.4.6	CDC4_N-term_subdom, AAA+_ATPase, ATPase_AAA_core
WBP4	Transcription factor	no		Matrin/U1-C_Znf_C2H2, WW_dom, Matrin/U1-like-C_Znf_C2H2
WDR5	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS
NSD2	Transcription factor	no	2.1.1.356	PWWP_dom, SET_dom, Znf_RING
FEZF2	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf
KDM2A	Transcription factor	no		F-box_dom, Znf_PHD, Znf_CXXC
KDM2B	Transcription factor	no		F-box_dom, Znf_PHD, Znf_CXXC
KMT2C	Transcription factor	no		HMGI/Y_DNA-bd_CS, SET_dom, Znf_RING
CPSF6	Other/Unknown	no		RRM_dom, Nucleotide-bd_a/b_plait_sf, CPSF6_RRM
CELF4	Other/Unknown	no		RRM_dom, Nucleotide-bd_a/b_plait_sf, CELF3/4/5/6_RRM1
SHANK1	Scaffold/PPI	no		SH3_domain, PDZ, SAM
CBX1	Other/Unknown	no		Chromo/chromo_shadow_dom, Chromo_shadow_dom, Chromo-like_dom_sf
SPTBN5	Scaffold/PPI	no		Actinin_actin-bd_CS, CH_dom, PH_domain
MED12L	Other/Unknown	no		Mediator_Med12, Mediator_Med12_catenin-bd, Mediator_Med12_LCEWAV
SUFU	Other/Unknown	no		Suppressor_of_fused, Suppressor_of_fused_euk, SUFU-like_domain
DHX34	Transcription factor	no	3.6.4.13	Helicase_C-like, Helicase-assoc_dom, DEAD/DEAH_box_helicase_dom
UBR5	Transcription factor	no		HECT_dom, PABP_HYD_C, Znf_UBR
TAOK2	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
SYNCRIP	Other/Unknown	no		RRM_dom, HnRNP_R/Q_splicing_fac, Nucleotide-bd_a/b_plait_sf
FEM1C	Scaffold/PPI	no		Ankyrin_rpt, TPR-like_helical_dom_sf, Ankyrin_rpt-contain_sf
PRPF8	Other/Unknown	no		JAMM/MPN+_dom, RNaseH-like_sf, PRO8NT
DDX23	Other/Unknown	no		RNA-helicase_DEAD-box_CS, Helicase_C-like, DEAD/DEAH_box_helicase_dom
KDM5B	Transcription factor	no	1.14.11.67	ARID_dom, Znf_PHD, JmjC_dom
MAST4	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, PDZ
SIN3B	Other/Unknown	no		PAH, HDAC_interact_dom, Sin3_C
CNKSR1	Scaffold/PPI	no		PDZ, SAM, PH_domain
UNC79	Other/Unknown	no		ARM-type_fold, UNC79
HECTD1	Scaffold/PPI	no		HECT_dom, Ankyrin_rpt, Galactose-bd-like_sf
CLDN5	Other/Unknown	no		Claudin5, PMP22/EMP/MP20/Claudin, Claudin
WDFY3	Transcription factor	no		Znf_FYVE, BEACH_dom, WD40_rpt
ATG4D	Protease	yes		Peptidase_C54, Papain-like_cys_pep_sf, Peptidase_C54_cat
FOXP4	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, FOXP-CC
SLC35F1	Transporter	yes		SLC35_F1/F2/F6, EmrE-like, SLC35F_Transporter
UNC13A	Other/Unknown	no		C2_dom, PKC_DAG/PE, MUN_dom
MYCBP2	Transcription factor	no	2.3.2.33	Reg_chr_condens, Znf_RING, APC_su10/DOC_dom
ADD1	Other/Unknown	no		Aldolase_II/adducin_N, Aldolase_II/adducin_N_sf, Aldolase-II_Adducin_sf
KLHL20	Other/Unknown	no		BTB/POZ_dom, Kelch_1, SKP1/BTB/POZ_sf
CTNND2	Other/Unknown	no		Armadillo, ARM-like, ARM-type_fold
PARP6	Enzyme (other)	yes	2.4.2.30	Poly(ADP-ribose)pol_cat_dom, ARTD_PARP

Expression context

Cohort genes with no expression data: 0.

123 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)	0
broad (>20)	134
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	26
ventricular zone	20
ganglionic eminence	19
sural nerve	15
calcaneal tendon	13
right hemisphere of cerebellum	13
adrenal tissue	11
endothelial cell	11
cerebellar hemisphere	9
Brodmann (1909) area 23	9
buccal mucosa cell	7
cerebellar cortex	7
oocyte	7
secondary oocyte	7
left testis	7
middle temporal gyrus	7
right frontal lobe	6
granulocyte	6
lateral nuclear group of thalamus	6
right testis	5

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RNU2-2	127	broad	yes	adrenal tissue, corpus callosum, sural nerve
SATB1	294	ubiquitous	marker	orbitofrontal cortex, frontal pole, thymus
SMARCA1	286	ubiquitous	marker	adrenal tissue, choroid plexus epithelium, tibia
SMARCA5	300	ubiquitous	marker	ventricular zone, calcaneal tendon, buccal mucosa cell
SMARCD1	276	ubiquitous	marker	ganglionic eminence, ventricular zone, cortical plate
SNAP25	220	broad	marker	pons, cerebellar cortex, cerebellum
SPAST	284	ubiquitous	marker	cortical plate, oocyte, secondary oocyte
BRSK2	176	broad	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
EP400	285	ubiquitous	marker	tendon of biceps brachii, sural nerve, secondary oocyte
TOP2B	298	ubiquitous	marker	ganglionic eminence, cortical plate, ventricular zone
JMJD1C	291	ubiquitous	marker	calcaneal tendon, right hemisphere of cerebellum, cerebellar hemisphere
VCP	294	ubiquitous	marker	stromal cell of endometrium, adrenal tissue, islet of Langerhans
WBP4	293	ubiquitous	marker	oocyte, secondary oocyte, amniotic fluid
WDR5	245	ubiquitous	marker	upper arm skin, left testis, right testis
NSD2	281	ubiquitous	marker	ventricular zone, ganglionic eminence, cortical plate
FEZF2	90	tissue_specific	marker	cortical plate, ventricular zone, ganglionic eminence
KDM2A	300	ubiquitous	marker	amniotic fluid, germinal epithelium of ovary, tibia
KDM2B	251	ubiquitous	marker	oviduct epithelium, upper arm skin, cortical plate
KMT2C	261	ubiquitous	marker	oocyte, caput epididymis, upper arm skin
CPSF6	291	ubiquitous	marker	ganglionic eminence, bone marrow cell, calcaneal tendon
CELF4	183	broad	marker	cerebellar cortex, cerebellar hemisphere, Brodmann (1909) area 9
SHANK1	183	broad	marker	anterior cingulate cortex, cingulate cortex, right frontal lobe
CBX1	301	ubiquitous	marker	ganglionic eminence, ventricular zone, embryo
SPTBN5	162	tissue_specific	yes	sural nerve, cerebellar hemisphere, right hemisphere of cerebellum
MED12L	160	broad	marker	monocyte, leukocyte, adrenal tissue
SUFU	226	ubiquitous	yes	upper arm skin, kidney epithelium, vena cava
DHX34	217	ubiquitous	marker	right testis, blood, left testis
UBR5	300	ubiquitous	marker	ventricular zone, sural nerve, ganglionic eminence
TAOK2	211	ubiquitous	marker	right hemisphere of cerebellum, apex of heart, cerebellar hemisphere
SYNCRIP	294	ubiquitous	marker	ventricular zone, ganglionic eminence, amniotic fluid

Protein interactions among cohort

Intra-cohort edges: 80.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
VCP	10,015
EEF2	8,196
TCP1	6,691
WDR5	6,596
ANK2	6,423
SMARCA5	6,214
HNRNPH1	6,206
ANK3	6,145
SPOP	5,899
DDX39B	5,600

Intra-cohort edges

A	B	Sources
ADD1	ANK2	string_interaction
ADD1	ANK3	string_interaction
ANK2	CACNA1E	string_interaction
ANK2	SPTBN5	string_interaction
ANK3	SPTBN5	string_interaction
AP2S1	ITSN1	biogrid_interaction, intact
ATXN2L	DDX17	biogrid_interaction
ATXN2L	KLHL20	biogrid_interaction
ATXN2L	PABPC1	biogrid_interaction, intact, string_interaction
ATXN2L	YWHAE	intact
BAZ2B	SMARCA1	intact, string_interaction
BAZ2B	SMARCA5	intact, string_interaction
BRSK2	YWHAE	intact
CACNA1E	CACNA1G	string_interaction
CAPN10	TCF7L2	string_interaction
CAPN10	TCP1	biogrid_interaction
CBX1	JMJD1C	intact
CBX1	KDM2A	intact
CCNA2	SCAPER	intact, string_interaction
CPSF6	DDX17	biogrid_interaction
CPSF6	HNRNPD	intact
CPSF6	SYNCRIP	intact
CTNND2	SEMA5A	string_interaction
DDX17	HNRNPH1	intact
DDX17	SYNCRIP	biogrid_interaction
DDX23	PRPF8	biogrid_interaction, intact
DDX39B	PABPC1	biogrid_interaction
DHX34	PABPC1	string_interaction
EEF1D	EEF2	string_interaction
EHMT2	KDM5B	string_interaction
EP400	SMARCD1	intact
FEM1C	KLHL20	string_interaction
FEZF2	LHX2	string_interaction
FOXP4	SOX12	string_interaction
GATAD2A	ZMYND8	biogrid_interaction, string_interaction
GIGYF1	SMARCD1	intact
GRIN2A	PTPN4	string_interaction
HECTD1	YWHAZ	intact
HNRNPD	SYNCRIP	intact
HNRNPH1	TRA2B	string_interaction
ITSN1	SNAP25	intact
JMJD1C	KMT2C	string_interaction
JPH3	UBTF	biogrid_interaction
KCNA3	STX1A	string_interaction
KCNA3	UBTF	biogrid_interaction
KDM2B	RING1	intact, string_interaction
KDM5B	YWHAE	intact
KDM5B	YWHAZ	intact
KIF21B	NSD2	string_interaction
KIF21B	SYNCRIP	biogrid_interaction

Structural data

PDB: 96 · AlphaFold-only: 36 · No structure: 2

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
H4C6	P62805	626
BAZ2B	Q9UIF8	264
WDR5	P61964	199
VCP	P55072	144
PSMC5	P62195	131
PSMC3	P17980	130
CCNA2	P20248	114
PRPF8	Q6P2Q9	101
YWHAZ	P63104	77
TCP1	P17987	65
KDM5B	Q9UGL1	56
GRIN2A	Q12879	37
SPOP	O43791	36
EHMT2	Q96KQ7	35
EEF2	P13639	31
MCM6	Q14566	30
PABPC1	P11940	30
TRPC5	Q9UL62	30
DDX23	Q9BUQ8	24
NSD2	O96028	22
PPP2R5C	Q13362	22
PPP5C	P53041	22
TOP2B	Q02880	20
DDX39B	Q13838	17
CPSF6	Q16630	16
KCNA3	P22001	16
KCND2	Q9NZV8	16
SMARCA5	O60264	15
SNAP25	P60880	14
EP400	Q96L91	13

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BDH1	Q02338	87.23
SCAMP5	Q8TAC9	86.48
FSD1L	Q9BXM9	85.09
STX1A	Q16623	84.94
CAPN10	Q9HC96	83.91
CLDN5	O00501	83.42
DHX34	Q14147	80.85
DIP2C	Q9Y2E4	79.64
SLC35F1	Q5T1Q4	78.53
ATG4D	Q86TL0	78.22
SMARCA1	P28370	75.48
PARP6	Q2NL67	74.08
ATP2B2	Q01814	73.83
UNC13A	Q9UPW8	73.58
RING1	Q06587	72.69
KIF21B	O75037	70.07
BRSK2	Q8IWQ3	68.46
RFX3	P48380	67.90
TAOK2	Q9UL54	67.17
LHX2	P50458	67.03
MED12L	Q86YW9	66.04
ADD1	P35611	65.73
SOX12	O15370	65.03
TAF1C	Q15572	64.79
JPH3	Q8WXH2	61.52
BHLHE22	Q8NFJ8	60.10
SOX8	P57073	59.57
CTNND2	Q9UQB3	58.88
KLF7	O75840	55.46
FEZF2	Q8TBJ5	55.45

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 872. Enrichment computed across 250 evidence-associated genes (190 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 190 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Chromatin organization	17	7.3×	1e-07	SMARCD1, KDM2A, KDM2B, KMT2C, KDM5B, SETD1A, SMARCA2, SMARCA4 (+9 more)
Gene expression (Transcription)	35	3.3×	1e-07	SMARCA5, SMARCD1, KMT2C, KDM5B, SIN3B, SETD1A, GTF3C3, PPP2R5C (+27 more)
Interaction between L1 and Ankyrins	9	17.4×	3e-07	SPTBN5, ANK2, ANK3, SCN2A, SCN3A, SCN8A, SPTAN1, SPTBN1 (+1 more)
Chromatin modifying enzymes	17	6.5×	3e-07	SMARCD1, KDM2A, KDM2B, KMT2C, KDM5B, SETD1A, SMARCA2, SMARCA4 (+9 more)
RNA Polymerase II Transcription	28	3.3×	3e-06	SMARCD1, KMT2C, KDM5B, SIN3B, SETD1A, PPP2R5C, RORA, SKI (+20 more)
Epigenetic regulation of gene expression	15	5.6×	9e-06	SMARCA5, SMARCD1, KMT2C, SIN3B, SETD1A, SF3B1, SMARCA2, SMARCA4 (+7 more)
Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)	7	16.8×	1e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
Formation of the canonical BAF (cBAF) complex	6	20.0×	3e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, ARID1A, ACTB
Formation of the polybromo-BAF (pBAF) complex	6	20.0×	3e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ACTB
Neuronal System	18	4.2×	3e-05	SNAP25, SHANK1, KCNA3, KCND2, SLC6A1, STX1A, STXBP1, SYN1 (+10 more)
Cellular response to heat stress	7	14.5×	3e-05	VCP, YWHAE, AAAS, CAMK2A, CAMK2B, CAMK2D, CAMK2G
Formation of the embryonic stem cell BAF (esBAF) complex	6	19.0×	3e-05	SMARCD1, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
L1CAM interactions	11	7.0×	3e-05	SPTBN5, ANK2, ANK3, AP2S1, SCN2A, SCN3A, SCN8A, SPTAN1 (+3 more)
Regulation of endogenous retroelements	7	13.6×	4e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
MITF-M-regulated melanocyte development	11	6.6×	5e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, TCF7L2, TFE3 (+3 more)
Phase 0 - rapid depolarisation	7	12.8×	5e-05	SCN2A, SCN3A, SCN8A, CAMK2A, CAMK2B, CAMK2D, CAMK2G
Transmission across Chemical Synapses	13	5.2×	6e-05	SNAP25, SLC6A1, STX1A, SYN1, SYT1, TUBB2A, CACNA1A, CACNA1E (+5 more)
Dopamine Neurotransmitter Release Cycle	6	15.7×	8e-05	SNAP25, STX1A, STXBP1, SYN1, SYT1, CASK
MAPK1/MAPK3 signaling	10	6.9×	8e-05	SPTBN5, PPP2R5C, SPTAN1, SPTBN1, SYNGAP1, ACTB, CAMK2A, CAMK2B (+2 more)
Sensory processing of sound	7	11.4×	9e-05	SNAP25, SPTAN1, SPTBN1, STX1A, SYN1, ACTB, CAPZA2
Sensory processing of sound by inner hair cells of the cochlea	9	7.7×	9e-05	SNAP25, ATP2B2, SPTAN1, SPTBN1, STX1A, SYN1, ACTB, CAPZA2 (+1 more)
Developmental Biology	32	2.4×	9e-05	SMARCD1, KMT2C, SPTBN5, KDM5B, ANK2, ANK3, AP2S1, ITSN1 (+24 more)
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known	7	11.1×	1e-04	SMARCD1, RING1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A
Glutamate binding, activation of AMPA receptors and synaptic plasticity	5	20.0×	1e-04	CACNG2, CAMK2A, CAMK2B, CAMK2D, CAMK2G
Ion transport by P-type ATPases	8	8.7×	1e-04	ATP2B2, ATP10A, ATP11A, ATP12A, CAMK2A, CAMK2B, CAMK2D, CAMK2G
Sensory Perception	11	5.5×	2e-04	SNAP25, LHX2, RPE65, SCN2A, SCN3A, SPTAN1, SPTBN1, STX1A (+3 more)
Transcriptional regulation by RUNX1	9	6.9×	2e-04	SMARCD1, KMT2C, SIN3B, SETD1A, SMARCA2, SMARCA4, SMARCB1, SMARCC2 (+1 more)
Regulation of MITF-M-dependent genes involved in pigmentation	7	9.8×	2e-04	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
Formation of the non-canonical BAF (ncBAF) complex	5	17.7×	2e-04	SMARCD1, SMARCA2, SMARCA4, SMARCC2, ACTB
Serotonin Neurotransmitter Release Cycle	5	16.7×	2e-04	SNAP25, STX1A, STXBP1, SYN1, SYT1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 240 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
chromatin remodeling	25	7.6×	5e-12	SATB1, SMARCA1, SMARCA5, SMARCD1, KDM2A, KDM2B, KDM5B, GATAD2A (+17 more)
positive regulation of DNA-templated transcription	31	3.6×	5e-07	SMARCA1, EP400, WDR5, GATAD2A, HNRNPD, LHX2, ZFHX3, PSMC5 (+23 more)
regulation of nucleotide-excision repair	8	20.1×	2e-06	SMARCD1, HMGB1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
positive regulation of myoblast differentiation	9	13.7×	6e-06	SMARCD1, ZFHX3, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, SOX4 (+1 more)
negative regulation of transcription by RNA polymerase II	37	2.7×	7e-06	SATB1, WDR5, NSD2, KDM2B, SUFU, SIN3B, GATAD2A, HMGB1 (+29 more)
regulation of G0 to G1 transition	7	19.7×	1e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
regulation of transcription by RNA polymerase II	47	2.3×	1e-05	SATB1, SMARCA5, SMARCD1, JMJD1C, WDR5, KDM2A, KDM2B, FOXP4 (+39 more)
nucleosome disassembly	6	20.1×	7e-05	SMARCD1, SMARCA4, SMARCB1, SMARCC2, ARID1A, SUPT16H
regulation of mitotic metaphase/anaphase transition	7	14.5×	7e-05	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
positive regulation of T cell differentiation	7	13.3×	1e-04	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
regulation of neuronal synaptic plasticity	6	16.9×	2e-04	GRIN2A, JPH3, CAMK2A, CAMK2B, CAMK2D, CAMK2G
regulation of protein localization to plasma membrane	6	16.2×	2e-04	SPTBN1, ACTB, CAMK2A, CAMK2B, CAMK2D, CAMK2G
positive regulation of transcription by RNA polymerase II	37	2.3×	2e-04	SMARCA1, SMARCA5, KMT2C, MED12L, DDX17, EEF1D, HMGB1, HNRNPD (+29 more)
negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	4	31.2×	5e-04	DHX34, SYNCRIP, PABPC1, NBAS
positive regulation of stem cell population maintenance	7	10.0×	5e-04	SMARCD1, KDM2B, SMARCA2, SMARCA4, SMARCB1, ARID1A, ACTB
positive regulation of double-strand break repair	7	10.0×	5e-04	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
nervous system development	18	3.4×	5e-04	SMARCD1, PAX5, ZMYND8, SCN2A, SEMA5A, SMARCA2, SMARCA4, SMARCB1 (+10 more)
regulation of calcium ion transport	5	16.7×	8e-04	ANK2, CACNA2D1, CAMK2B, CAMK2G, CASR
camera-type eye morphogenesis	5	16.0×	1e-03	RING1, SKI, SOX12, SOX4, YY1
regulation of G1/S transition of mitotic cell cycle	7	8.9×	1e-03	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
cardiac muscle cell action potential involved in contraction	5	14.6×	0.001	SCN2A, SCN3A, SCN8A, CACNA1G, CACNA2D1
synapse organization	7	8.2×	0.001	SHANK1, CTNND2, SLC6A1, SYN1, GET1, SHANK3, SHANK2
long-term synaptic potentiation	7	8.2×	0.001	SNAP25, GRIN2A, SHANK2, CAMK2A, CAMK2B, CAMK2D, CAMK2G
regulation of DNA-templated transcription	21	2.8×	0.002	SMARCA1, SMARCA5, JMJD1C, WDR5, NSD2, SUFU, KDM5B, HNRNPD (+13 more)
positive regulation of cell differentiation	7	7.8×	0.002	SMARCD1, SMARCA2, SMARCA4, SMARCB1, SMARCC2, ARID1A, ACTB
heterochromatin formation	7	7.5×	0.002	SMARCA1, SMARCA5, CBX1, HMGB1, SMARCA2, SMARCA4, HDAC8
neural tube closure	8	6.2×	0.002	SUFU, ARHGAP35, LHX2, NCKAP1, SKI, MED12, TSC2, ZEB2
mRNA splicing, via spliceosome	11	4.2×	0.004	WBP4, SYNCRIP, PRPF8, DDX23, HNRNPH1, PABPC1, SF3B1, SF3B2 (+3 more)
positive regulation of cytoplasmic translation	4	16.5×	0.004	SYNCRIP, EEF2, HNRNPD, PABPC1
negative regulation of DNA-templated transcription	20	2.6×	0.004	CBX1, KDM5B, GATAD2A, PSMC5, RFX3, RING1, BHLHE40, SMARCA2 (+12 more)

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Risperidone	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 24 · Phase ≥3: 26 · Phased (≥1): 37 · Undrugged: 97

Druggability breadth: 145 of 250 evidence-associated genes (58%) 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
BRSK2	BRIGATINIB
TOP2B	AMSACRINE
VCP	CLOTRIMAZOLE
WDR5	ESOMEPRAZOLE
NSD2	VENETOCLAX
KDM2A	DEFERIPRONE
KDM2B	DEFERIPRONE
TAOK2	FEDRATINIB
PARP6	OLAPARIB
MARK2	MOMELOTINIB
GRIN2A	MEMANTINE HYDROCHLORIDE
HMGB1	ASPIRIN
KCNA3	CLOTRIMAZOLE
KCND2	VERNAKALANT HYDROCHLORIDE
NR4A2	BEXAROTENE
PABPC1	OXCARBAZEPINE
PPP5C	CANTHARIDIN
PSMC3	BORTEZOMIB
PSMC5	BORTEZOMIB
MARK4	RIVASTIGMINE TARTRATE
CACNA1E	NIMODIPINE
CACNA1G	NIMODIPINE
EHMT2	RALTITREXED
CCNA2	PALBOCICLIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MARK2	45	4
GRIN2A	37	4
CCNA2	35	4
TAOK2	29	4
MARK4	22	4
NR4A2	14	4
TOP2B	11	4
BRSK2	10	4
NSD2	8	4
CACNA1G	8	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BRIGATINIB	4	BRSK2, MARK2
SUNITINIB	4	BRSK2, MARK2, MARK4
MIDOSTAURIN	4	BRSK2, MARK2, MARK4
AMSACRINE	4	TOP2B
ETOPOSIDE	4	TOP2B
TENIPOSIDE	4	TOP2B
DOXORUBICIN	4	TOP2B
CIPROFLOXACIN	4	TOP2B
TOPOTECAN	4	TOP2B
DEXRAZOXANE	4	TOP2B
CLOTRIMAZOLE	4	KCNA3, VCP
GANCICLOVIR	4	VCP
HEXACHLOROPHENE	4	VCP
ESOMEPRAZOLE	4	WDR5
DEXLANSOPRAZOLE	4	WDR5
RABEPRAZOLE	4	WDR5
OMEPRAZOLE	4	WDR5
LANSOPRAZOLE	4	WDR5
VENETOCLAX	4	NSD2
MITOXANTRONE	4	NSD2
DEFERIPRONE	4	KDM2A, KDM2B
FEDRATINIB	4	MARK2, MARK4, TAOK2
SORAFENIB	4	CCNA2, TAOK2
RUXOLITINIB	4	MARK2, TAOK2
PALBOCICLIB	4	CCNA2, TAOK2
PACRITINIB	4	CCNA2, TAOK2
BOSUTINIB	4	TAOK2
GILTERITINIB	4	TAOK2
PAZOPANIB	4	TAOK2
DASATINIB	4	TAOK2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 19.

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

Symbol	Assays	Type breakdown
CCNA2	738	Binding:727, ADMET:8, Functional:2, Toxicity:1
EHMT2	442	Binding:435, Functional:6, ADMET:1
MARK2	356	Binding:355, Functional:1
GRIN2A	324	Binding:296, Functional:23, ADMET:4, Toxicity:1
WDR5	314	Binding:311, Functional:3
TOP2B	284	Binding:247, Functional:36, ADMET:1
NR4A2	274	Binding:273, Functional:1
NSD2	264	Binding:256, Functional:8
MARK4	246	Binding:245, Functional:1
TAOK2	232	Binding:232
BRSK2	230	Binding:230
KDM5B	146	Binding:146
BAZ2B	142	Binding:140, Functional:2
VCP	120	Binding:120
CACNA1G	105	Binding:91, Functional:11, ADMET:2, Toxicity:1
KCNA3	100	Binding:89, Functional:9, Toxicity:1, ADMET:1
SPOP	82	Binding:82
TRPC5	71	Binding:70, ADMET:1
KDM2A	48	Binding:47, Functional:1
PPP5C	46	Binding:46
HMGB1	36	Binding:36
KMT2C	29	Binding:29
KDM2B	28	Binding:28
PSMC3	27	Binding:27
PSMC5	27	Binding:27
EEF2	26	Binding:26
KCND2	23	Binding:22, Toxicity:1
YWHAZ	23	Binding:23
TCF7L2	22	Binding:22
PARP6	21	Binding:21
H4C6	14	Binding:14
CACNA1E	14	Binding:14
MAST4	13	Binding:13
CNKSR1	12	Binding:12
HCN2	12	Binding:6, Functional:4, ADMET:2
MCM6	12	Binding:12
PABPC1	12	Binding:8, Functional:4
ZMYND8	12	Binding:12
DDX17	11	Binding:11
SYNCRIP	8	Binding:8
PRPF8	8	Binding:8
SETD1A	8	Binding:8
EEF1D	8	Binding:8
HNRNPH1	8	Binding:8
PTPN4	8	Binding:8
SMARCD1	7	Binding:7
CBX1	7	Binding:5, Functional:2
GATAD2A	7	Binding:7
TRA2B	7	Binding:7
TCP1	7	Binding:7

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
SPAST	5.6.1.1	microtubule-severing ATPase
TOP2B	5.6.2.2, 5.99.1.3	DNA topoisomerase (ATP-hydrolysing), DNA topoisomerase (ATP-hydrolysing)
JMJD1C	1.14.11.65	[histone H3]-dimethyl-L-lysine9 demethylase
VCP	3.6.4.6	vesicle-fusing ATPase
NSD2	2.1.1.356, 2.1.1.357, 2.1.1.359	[histone H3]-lysine27 N-trimethyltransferase, [histone H3]-lysine36 N-dimethyltransferase, [histone H3]-lysine36 N-trimethyltransferase
DHX34	3.6.4.13	RNA helicase
KDM5B	1.14.11.67	[histone H3]-trimethyl-L-lysine4 demethylase
MYCBP2	2.3.2.33	RCR-type E3 ubiquitin transferase
PARP6	2.4.2.30	NAD+ ADP-ribosyltransferase
DDX17	3.6.4.13	RNA helicase
SETD1A	2.1.1.354	[histone H3]-lysine4 N-trimethyltransferase
EEF2	3.6.5.3	protein-synthesizing GTPase
ATP2B2	7.2.2.10	P-type Ca2+ transporter
PPP5C	3.1.3.16	protein-serine/threonine phosphatase
PTPN4	3.1.3.48	protein-tyrosine-phosphatase
SARS1	6.1.1.11	serine-tRNA ligase
TCP1	3.6.4.B10
EHMT2	2.1.1.355, 2.1.1.356, 2.1.1.367, 2.1.1.368	[histone H3]-lysine9 N-trimethyltransferase, [histone H3]-lysine27 N-trimethyltransferase, [histone H3]-lysine9 N-methyltransferase, [histone H3]-lysine9 N-dimethyltransferase
CAPN10	3.4.22.B30

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
BRSK2	230
TOP2B	284
VCP	120
WDR5	314
NSD2	264
TAOK2	232
KDM5B	146
MARK2	356
GRIN2A	324
KCNA3	100
NR4A2	274
BAZ2B	142
MARK4	246
CACNA1G	105
EHMT2	442
CCNA2	738

Pharmacogenomics

Cohort genes with a PharmGKB record: 133; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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)
BRIGATINIB	4	BRSK2, MARK2
SUNITINIB	4	BRSK2, MARK2, MARK4
MIDOSTAURIN	4	BRSK2, MARK2, MARK4
AMSACRINE	4	TOP2B
ETOPOSIDE	4	TOP2B
TENIPOSIDE	4	TOP2B
DOXORUBICIN	4	TOP2B
CIPROFLOXACIN	4	TOP2B
TOPOTECAN	4	TOP2B
DEXRAZOXANE	4	TOP2B
CLOTRIMAZOLE	4	KCNA3, VCP
GANCICLOVIR	4	VCP
HEXACHLOROPHENE	4	VCP
ESOMEPRAZOLE	4	WDR5
DEXLANSOPRAZOLE	4	WDR5
RABEPRAZOLE	4	WDR5
OMEPRAZOLE	4	WDR5
LANSOPRAZOLE	4	WDR5
VENETOCLAX	4	NSD2
MITOXANTRONE	4	NSD2
DEFERIPRONE	4	KDM2A, KDM2B
FEDRATINIB	4	MARK2, MARK4, TAOK2
SORAFENIB	4	CCNA2, TAOK2
RUXOLITINIB	4	MARK2, TAOK2
PALBOCICLIB	4	CCNA2, TAOK2
PACRITINIB	4	CCNA2, TAOK2
BOSUTINIB	4	TAOK2
GILTERITINIB	4	TAOK2
PAZOPANIB	4	TAOK2
DASATINIB	4	TAOK2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	24	BRSK2, TOP2B, VCP, WDR5, NSD2, KDM2A, KDM2B, TAOK2, PARP6, MARK2 (+14 more)
B	Phased (≥1) drug, not yet approved	13	SMARCD1, PRPF8, KDM5B, DDX17, SETD1A, EEF1D, H4C6, HIRA, ZMYND8, TRA2B (+3 more)
C	Druggable family + PDB, no drug	8	SPAST, JMJD1C, MAST4, EEF2, HCN2, AP1G1, PTPN4, SARS1
D	Druggable family + AlphaFold only, no drug	4	ATG4D, SLC35F1, FSD1L, CAPN10
E	Difficult family or no structure, no drug	85	RNU2-2, SATB1, SMARCA1, SMARCA5, SNAP25, EP400, WBP4, FEZF2, KMT2C, CPSF6 (+75 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
KMT2C	29	WDR5
ATXN2L	1	PABPC1
PTPN4	8	GRIN2A
SCAPER	0	CCNA2
BAZ2B	142	—
RNU2-2	0	—
SATB1	0	—
SMARCA1	1	—
SMARCA5	1	—
SNAP25	0	—
SPAST	1	—
EP400	0	—
JMJD1C	2	—
WBP4	0	—
FEZF2	0	—
CPSF6	1	—
CELF4	0	—
SHANK1	0	—
CBX1	7	—
SPTBN5	0	—
MED12L	0	—
SUFU	1	—
DHX34	0	—
UBR5	0	—
SYNCRIP	8	—
FEM1C	0	—
DDX23	0	—
MAST4	13	—
SIN3B	0	—
CNKSR1	12	—

Clinical trials & evidence

Clinical trials

Clinical trials: 202.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	187
PHASE3	4
PHASE2	3
PHASE1	3
PHASE4	2
PHASE2/PHASE3	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03492060	Not specified	RECRUITING	Longitudinal Study of Neurogenetic Disorders
NCT03770832	Not specified	ACTIVE_NOT_RECRUITING	Wearable Sensors and Video Recordings to Monitor Motor Development
NCT03830879	Not specified	RECRUITING	Shenzhen Birth Cohort Study
NCT03977259	Not specified	ACTIVE_NOT_RECRUITING	Targeting Human Milk Fortification to Improve Preterm Infant Growth and Brain Development
NCT04096430	Not specified	RECRUITING	Evaluation of Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach)
NCT04321200	Not specified	RECRUITING	PANDA Gym: Automated Assessment of Neurodevelopment in Infants at Risk for Motor Disability
NCT04685746	Not specified	RECRUITING	BALANCED GROWTH: The Involvement of the Vestibular System in a Child’s Cognitive and Motor Development
NCT04952870	Not specified	RECRUITING	Perinatal Covid-19 Infection, NO Pathway, and Minipuberty
NCT04972825	Not specified	ACTIVE_NOT_RECRUITING	AIR-B4: Mind the Gap
NCT04972838	Not specified	ACTIVE_NOT_RECRUITING	AIR-B4: Remaking Recess (RR)
NCT04972851	Not specified	ACTIVE_NOT_RECRUITING	AIRB-4: Self-Determined Learning Model of Instruction
NCT05017363	Not specified	RECRUITING	Evaluation of the Effectiveness of Child-oriented Goal-setting in Paediatric Rehabilitation (the ENGAGE Approach)
NCT05154799	Not specified	RECRUITING	Developmental Coordination Disorder
NCT05318222	Not specified	RECRUITING	Genetic Inclusion by Virtual Evaluation
NCT05336890	Not specified	RECRUITING	Post-Vent, the Sequelae: Personalized Prognostic Modeling for Consequences of Neonatal Intermittent Hypoxemia in Preterm Infants at Pre-School Age
NCT05361122	Not specified	RECRUITING	Prevention of Developmental Delay and Xylitol (PDDaX) Study
NCT05368493	Not specified	ENROLLING_BY_INVITATION	Air Pollution and Development in the Boricua Youth Study
NCT05432349	Not specified	RECRUITING	Rett Syndrome Registry
NCT05467527	Not specified	RECRUITING	PACT Programme for Parents of Children With SHCN
NCT05490173	Not specified	NOT_YET_RECRUITING	The Pilot Experimental Study of the Neuroprotective Effects of Exosomes in Extremely Low Birth Weight Infants
NCT05512637	Not specified	RECRUITING	Screening for Neurodevelopmental Disorders in Siblings of Children With Autism Diagnosed in Tertiary Centers
NCT05527080	Not specified	RECRUITING	Development of Motility and Cognition in Infants

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
GLYCOPYRRONIUM BROMIDE	4	1
ISOFLURANE	4	1
LEVOCARNITINE	4	1
MALTODEXTRIN	3	1
SERINE	3	1
SULFORAPHANE	3	1