Bilateral perisylvian polymicrogyria

disease

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Summary

Bilateral perisylvian polymicrogyria (MONDO:0020340) is a disease with 6 cohort genes.

At a glance

Cohort genes: 6
ClinVar variants: 8
Phenotypes (HPO): 49

Clinical features

Signs & symptoms

Clinical features (HPO)

49 HPO clinical features (Orphanet curated; top 49 by frequency):

HPO ID	Term	Frequency
HP:0002269	Abnormality of neuronal migration	Very frequent (80-99%)
HP:0032407	Bilateral perisylvian polymicrogyria	Very frequent (80-99%)
HP:0000750	Delayed speech and language development	Frequent (30-79%)
HP:0001249	Intellectual disability	Frequent (30-79%)
HP:0001250	Seizure	Frequent (30-79%)
HP:0001257	Spasticity	Frequent (30-79%)
HP:0001263	Global developmental delay	Frequent (30-79%)
HP:0001328	Specific learning disability	Frequent (30-79%)
HP:0001347	Hyperreflexia	Frequent (30-79%)
HP:0001371	Flexion contracture	Frequent (30-79%)
HP:0002392	EEG with polyspike wave complexes	Frequent (30-79%)
HP:0002463	Language impairment	Frequent (30-79%)
HP:0005684	Distal arthrogryposis	Frequent (30-79%)
HP:0007359	Focal-onset seizure	Frequent (30-79%)
HP:0008947	Floppy infant	Frequent (30-79%)
HP:0012014	EEG with central focal spikes	Frequent (30-79%)
HP:0012017	EEG with parietal focal spikes	Frequent (30-79%)
HP:0020190	Perisylvian predominant thick cortex pachygyria	Frequent (30-79%)
HP:0030319	Weakness of facial musculature	Frequent (30-79%)
HP:0000252	Microcephaly	Occasional (5-29%)
HP:0000347	Micrognathia	Occasional (5-29%)
HP:0000365	Hearing impairment	Occasional (5-29%)
HP:0000453	Choanal atresia	Occasional (5-29%)
HP:0000639	Nystagmus	Occasional (5-29%)
HP:0000767	Pectus excavatum	Occasional (5-29%)
HP:0001260	Dysarthria	Occasional (5-29%)
HP:0001310	Dysmetria	Occasional (5-29%)
HP:0001320	Cerebellar vermis hypoplasia	Occasional (5-29%)
HP:0001349	Facial diplegia	Occasional (5-29%)
HP:0001511	Intrauterine growth retardation	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002020	Gastroesophageal reflux	Occasional (5-29%)
HP:0002061	Lower limb spasticity	Occasional (5-29%)
HP:0002104	Apnea	Occasional (5-29%)
HP:0002307	Drooling	Occasional (5-29%)
HP:0002385	Paraparesis	Occasional (5-29%)
HP:0002509	Limb hypertonia	Occasional (5-29%)
HP:0002510	Spastic tetraplegia	Occasional (5-29%)
HP:0002835	Aspiration	Occasional (5-29%)
HP:0007024	Pseudobulbar paralysis	Occasional (5-29%)
HP:0007033	Cerebellar dysplasia	Occasional (5-29%)
HP:0007301	Oromotor apraxia	Occasional (5-29%)
HP:0010808	Protruding tongue	Occasional (5-29%)
HP:0011157	Focal sensory seizure	Occasional (5-29%)
HP:0011755	Ectopic posterior pituitary	Occasional (5-29%)
HP:0011968	Feeding difficulties	Occasional (5-29%)
HP:0012015	EEG with frontal focal spikes	Occasional (5-29%)
HP:0012469	Infantile spasms	Occasional (5-29%)
HP:0410011	Abnormality of masticatory muscle	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	bilateral perisylvian polymicrogyria
Mondo ID	MONDO:0020340
Orphanet	98889
DOID	DOID:0080924
ICD-11	1882677643
UMLS	C1845668
MedGen	337000
GARD	0006011
Is cancer (heuristic)	no

Data availability: 8 ClinVar variants.

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › polymicrogyria › bilateral polymicrogyria › bilateral perisylvian polymicrogyria

Subtypes (3): polymicrogyria, bilateral perisylvian, X-linked, polymicrogyria, bilateral perisylvian, autosomal recessive, polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

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

8 retrieved; paginated sample, class counts are floors:

3 conflicting classifications of pathogenicity, 2 pathogenic, 2 likely pathogenic, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
432534	NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)	SCN3A	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2664153	NM_006009.4(TUBA1A):c.303T>A (p.Asn101Lys)	TUBA1A	Pathogenic	criteria provided, single submitter
1708143	NM_178012.5(TUBB2B):c.776C>T (p.Pro259Leu)	TUBB2B	Pathogenic	criteria provided, multiple submitters, no conflicts
2664152	NM_004818.3(DDX23):c.2437C>T (p.Arg813Cys)	DDX23	Likely pathogenic	criteria provided, single submitter
2664151	NM_138459.5(NUS1):c.616G>T (p.Asp206Tyr)	NUS1	Likely pathogenic	criteria provided, single submitter
988578	NM_006009.4(TUBA1A):c.1216C>G (p.His406Asp)	TUBA1A	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
988580	NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg)	TUBA1A	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1496445	NM_006005.3(WFS1):c.923C>G (p.Ser308Cys)	WFS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SCN3A	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
SCN3A	Orphanet:98820	Familial focal epilepsy with variable foci
WFS1	Orphanet:3463	Wolfram syndrome
WFS1	Orphanet:411590	Wolfram-like syndrome
WFS1	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
WFS1	Orphanet:98991	Early-onset nuclear cataract
TUBA1A	Orphanet:171680	Lissencephaly due to TUBA1A mutation
TUBA1A	Orphanet:45358	Congenital fibrosis of extraocular muscles
TUBA1A	Orphanet:467166	Tubulinopathy-associated dysgyria
TUBA1A	Orphanet:994	Fetal akinesia deformation sequence
NUS1	Orphanet:442835	Non-specific early-onset epileptic encephalopathy
TUBB2B	Orphanet:1766	Dysequilibrium syndrome
TUBB2B	Orphanet:300573	Polymicrogyria due to TUBB2B mutation
TUBB2B	Orphanet:45358	Congenital fibrosis of extraocular muscles
TUBB2B	Orphanet:467166	Tubulinopathy-associated dysgyria

Cohort genes → proteins

6 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	6

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SCN3A	HGNC:10590	ENSG00000153253	Q9NY46	Sodium channel protein type 3 subunit alpha	clinvar
WFS1	HGNC:12762	ENSG00000109501	O76024	Wolframin	clinvar
DDX23	HGNC:17347	ENSG00000174243	Q9BUQ8	Probable ATP-dependent RNA helicase DDX23	clinvar
TUBA1A	HGNC:20766	ENSG00000167552	Q71U36	Tubulin alpha-1A chain	clinvar
NUS1	HGNC:21042	ENSG00000153989	Q96E22	Dehydrodolichyl diphosphate synthase complex subunit NUS1	clinvar
TUBB2B	HGNC:30829	ENSG00000137285	Q9BVA1	Tubulin beta-2B chain	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SCN3A	Sodium channel protein type 3 subunit alpha	Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes.
WFS1	Wolframin	Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.
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.
TUBA1A	Tubulin alpha-1A chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.
NUS1	Dehydrodolichyl diphosphate synthase complex subunit NUS1	With DHDDS, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery.
TUBB2B	Tubulin beta-2B chain	Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers.

Protein-family classification

Druggable: 2 · Difficult: 0 · Unknown: 4 · Druggable fraction: 0.33

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	1	18.6×	0.158
Enzyme (other)	1	2.0×	0.458
Other/Unknown	4	1.2×	0.458

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SCN3A	Ion channel	yes		Na_channel_asu, Ion_trans_dom, Na_trans_assoc_dom
WFS1	Other/Unknown	no		TPR-like_helical_dom_sf, Wolframin, Wolframin_fam
DDX23	Other/Unknown	no		RNA-helicase_DEAD-box_CS, Helicase_C-like, DEAD/DEAH_box_helicase_dom
TUBA1A	Other/Unknown	no		Tubulin, Alpha_tubulin, Tubulin_FtsZ_GTPase
NUS1	Enzyme (other)	yes	2.5.1.87	UPP_synth-like, UPP_synth-like_sf, Nus1/NgBR
TUBB2B	Other/Unknown	no		Tubulin, Beta_tubulin, Tubulin_FtsZ_GTPase

Expression context

Cohort genes with no expression data: 0.

6 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)	6
unknown	0

Top tissues across cohort

Tissue	Cohort genes
cortical plate	3
endothelial cell	2
ganglionic eminence	2
middle temporal gyrus	1
body of uterus	1
left ovary	1
right ovary	1
calcaneal tendon	1
granulocyte	1
sural nerve	1
endometrium	1
islet of Langerhans	1
tibia	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SCN3A	221	broad	marker	endothelial cell, cortical plate, middle temporal gyrus
WFS1	280	ubiquitous	marker	right ovary, left ovary, body of uterus
DDX23	296	ubiquitous	marker	calcaneal tendon, sural nerve, granulocyte
TUBA1A	288	ubiquitous	marker	endothelial cell, cortical plate, ganglionic eminence
NUS1	255	broad	marker	endometrium, tibia, islet of Langerhans
TUBB2B	265	ubiquitous	marker	cortical plate, ganglionic eminence, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DDX23	4,764
TUBB2B	4,736
WFS1	3,409
NUS1	2,058
SCN3A	1,454
TUBA1A	1,436

Intra-cohort edges

A	B	Sources
TUBA1A	TUBB2B	intact

Structural data

PDB: 5 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DDX23	Q9BUQ8	24
TUBA1A	Q71U36	15
NUS1	Q96E22	9
TUBB2B	Q9BVA1	3
SCN3A	Q9NY46	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
WFS1	O76024	73.85

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 108. Enrichment computed across 6 evidence-associated genes (6 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 6 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	2	181.3×	0.001	TUBA1A, TUBB2B
Transport of connexons to the plasma membrane	2	181.3×	0.001	TUBA1A, TUBB2B
Gap junction trafficking and regulation	2	158.6×	0.001	TUBA1A, TUBB2B
Gap junction trafficking	2	158.6×	0.001	TUBA1A, TUBB2B
Post-chaperonin tubulin folding pathway	2	158.6×	0.001	TUBA1A, TUBB2B
Formation of tubulin folding intermediates by CCT/TriC	2	141.0×	0.001	TUBA1A, TUBB2B
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	2	135.9×	0.001	TUBA1A, TUBB2B
Prefoldin mediated transfer of substrate to CCT/TriC	2	131.3×	0.001	TUBA1A, TUBB2B
Activation of AMPK downstream of NMDARs	2	126.9×	0.001	TUBA1A, TUBB2B
L1CAM interactions	3	60.1×	0.001	SCN3A, TUBA1A, TUBB2B
RHO GTPases activate IQGAPs	2	115.3×	0.001	TUBA1A, TUBB2B
Sealing of the nuclear envelope (NE) by ESCRT-III	2	115.3×	0.001	TUBA1A, TUBB2B
HCMV Infection	2	108.8×	0.001	TUBA1A, TUBB2B
Chaperonin-mediated protein folding	2	100.2×	0.001	TUBA1A, TUBB2B
Gap junction assembly	2	97.6×	0.001	TUBA1A, TUBB2B
Nuclear Envelope (NE) Reassembly	2	97.6×	0.001	TUBA1A, TUBB2B
Selective autophagy	2	92.8×	0.001	TUBA1A, TUBB2B
Protein folding	2	86.5×	0.001	TUBA1A, TUBB2B
Assembly and cell surface presentation of NMDA receptors	2	84.6×	0.001	TUBA1A, TUBB2B
Cargo trafficking to the periciliary membrane	2	82.8×	0.001	TUBA1A, TUBB2B
Aggrephagy	2	82.8×	0.001	TUBA1A, TUBB2B
Axon guidance	3	22.6×	0.001	SCN3A, TUBA1A, TUBB2B
Nervous system development	3	21.5×	0.001	SCN3A, TUBA1A, TUBB2B
Carboxyterminal post-translational modifications of tubulin	2	79.3×	0.001	TUBA1A, TUBB2B
Recycling pathway of L1	2	74.6×	0.001	TUBA1A, TUBB2B
COPI-independent Golgi-to-ER retrograde traffic	2	69.2×	0.001	TUBA1A, TUBB2B
Post NMDA receptor activation events	2	68.0×	0.001	TUBA1A, TUBB2B
Intraflagellar transport	2	66.8×	0.001	TUBA1A, TUBB2B
Antimicrobial mechanism of IFN-stimulated genes	2	65.6×	0.001	TUBA1A, TUBB2B
HSP90 chaperone cycle for steroid hormone receptors (SHR) in the presence of ligand	2	64.5×	0.001	TUBA1A, TUBB2B

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
microtubule-based process	2	330.4×	0.001	TUBA1A, TUBB2B
cis assembly of pre-catalytic spliceosome	1	1404.3×	0.009	DDX23
dolichyl diphosphate biosynthetic process	1	1404.3×	0.009	NUS1
positive regulation of axon guidance	1	1404.3×	0.009	TUBB2B
negative regulation of ATF6-mediated unfolded protein response	1	1404.3×	0.009	WFS1
cerebral cortex development	2	68.5×	0.009	TUBA1A, TUBB2B
mitotic cell cycle	2	44.6×	0.009	TUBA1A, TUBB2B
neuron migration	2	44.6×	0.009	TUBA1A, TUBB2B
microtubule cytoskeleton organization	2	40.4×	0.009	TUBA1A, TUBB2B
regulation of intracellular cholesterol transport	1	702.2×	0.011	NUS1
positive regulation of growth	1	702.2×	0.011	WFS1
pyramidal neuron differentiation	1	561.7×	0.013	TUBA1A
cerebellar cortex morphogenesis	1	468.1×	0.014	TUBA1A
negative regulation of response to endoplasmic reticulum stress	1	401.2×	0.014	WFS1
negative regulation of type B pancreatic cell apoptotic process	1	351.1×	0.014	WFS1
olfactory behavior	1	312.1×	0.014	WFS1
dolichyl monophosphate biosynthetic process	1	312.1×	0.014	NUS1
neuron projection arborization	1	312.1×	0.014	TUBA1A
R-loop processing	1	280.9×	0.014	DDX23
membrane depolarization during action potential	1	280.9×	0.014	SCN3A
response to L-glutamate	1	280.9×	0.014	TUBA1A
positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis	1	280.9×	0.014	NUS1
ER overload response	1	255.3×	0.015	WFS1
forebrain morphogenesis	1	234.1×	0.015	TUBA1A
nervous system process	1	200.6×	0.016	WFS1
organelle transport along microtubule	1	200.6×	0.016	TUBA1A
startle response	1	187.2×	0.017	TUBA1A
vascular endothelial growth factor signaling pathway	1	175.5×	0.017	NUS1
locomotory exploration behavior	1	165.2×	0.017	TUBA1A
positive regulation of protein metabolic process	1	165.2×	0.017	WFS1

Therapeutics

Drug target analysis

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

Druggability breadth: 4 of 6 evidence-associated genes (67%) 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
SCN3A	BEPRIDIL
TUBA1A	COLCHICINE
TUBB2B	COLCHICINE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SCN3A	93	4
TUBA1A	22	4
TUBB2B	21	4
WFS1	0	0
DDX23	0	0
NUS1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
BEPRIDIL	4	SCN3A
DIBUCAINE	4	SCN3A
ARTICAINE	4	SCN3A
BUPIVACAINE	4	SCN3A
IMIPRAMINE	4	SCN3A
DROPERIDOL	4	SCN3A
DICYCLOMINE	4	SCN3A
TETRABENAZINE	4	SCN3A
PHENIRAMINE	4	SCN3A
PRILOCAINE	4	SCN3A
PROPOXYCAINE	4	SCN3A
PROPARACAINE	4	SCN3A
HEXYLCAINE	4	SCN3A
PRAMOXINE	4	SCN3A
BENOXINATE	4	SCN3A
QUINIDINE	4	SCN3A
FELODIPINE	4	SCN3A
PHENYTOIN	4	SCN3A
QUININE	4	SCN3A
NISOLDIPINE	4	SCN3A
NIFEDIPINE	4	SCN3A
PRAZOSIN	4	SCN3A
DILTIAZEM	4	SCN3A
PRENYLAMINE	4	SCN3A
COCAINE	4	SCN3A
TRIFLUOPERAZINE	4	SCN3A
CINNARIZINE	4	SCN3A
THIORIDAZINE	4	SCN3A
ETIDOCAINE	4	SCN3A
CHLORPHENIRAMINE	4	SCN3A

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
TUBB2B	1,757	Binding:1717, Functional:34, ADMET:6
TUBA1A	1,696	Binding:1655, Functional:35, ADMET:6
SCN3A	102	Binding:79, Functional:18, ADMET:4, Toxicity:1
WFS1	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
NUS1	2.5.1.87	ditrans,polycis-polyprenyl diphosphate synthase [(2E,6E)-farnesyl diphosphate specific]

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
SCN3A	102
TUBA1A	1,696
TUBB2B	1,757

Pharmacogenomics

Cohort genes with a PharmGKB record: 6; 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)
BEPRIDIL	4	SCN3A
DIBUCAINE	4	SCN3A
ARTICAINE	4	SCN3A
BUPIVACAINE	4	SCN3A
IMIPRAMINE	4	SCN3A
DROPERIDOL	4	SCN3A
DICYCLOMINE	4	SCN3A
TETRABENAZINE	4	SCN3A
PHENIRAMINE	4	SCN3A
PRILOCAINE	4	SCN3A
PROPOXYCAINE	4	SCN3A
PROPARACAINE	4	SCN3A
HEXYLCAINE	4	SCN3A
PRAMOXINE	4	SCN3A
BENOXINATE	4	SCN3A
QUINIDINE	4	SCN3A
FELODIPINE	4	SCN3A
PHENYTOIN	4	SCN3A
QUININE	4	SCN3A
NISOLDIPINE	4	SCN3A
NIFEDIPINE	4	SCN3A
PRAZOSIN	4	SCN3A
DILTIAZEM	4	SCN3A
PRENYLAMINE	4	SCN3A
COCAINE	4	SCN3A
TRIFLUOPERAZINE	4	SCN3A
CINNARIZINE	4	SCN3A
THIORIDAZINE	4	SCN3A
ETIDOCAINE	4	SCN3A
CHLORPHENIRAMINE	4	SCN3A

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	SCN3A, TUBA1A, TUBB2B
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	NUS1
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	WFS1, DDX23

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
WFS1	1	—
DDX23	0	—
NUS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: SCN3A, WFS1, DDX23, TUBA1A, NUS1, TUBB2B