X-linked syndromic intellectual disability

Summary

X-linked syndromic intellectual disability (MONDO:0020119) is a disease (an umbrella term covering 81 Mondo subtypes) caused by DDX3X (GenCC Definitive), with 7 cohort genes.

At a glance

• Causal gene: DDX3X (GenCC Definitive)
• Umbrella term: 81 Mondo subtypes
• Cohort genes: 7
• ClinVar variants: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked syndromic intellectual disability
Mondo ID	MONDO:0020119
OMIM	309510
Orphanet	98464
DOID	DOID:0060309
Is cancer (heuristic)	no

Also known as: intellectual disability, X-linked syndromic · mental retardation, X-linked syndromic · syndromic intellectual disability, X-linked · syndromic X-linked intellectual disability · X-linked syndromic intellectual disability

Data availability: 7 ClinVar variants · 2 GenCC gene-disease records.

Disease family

An umbrella term covering 81 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › intellectual disability › syndromic intellectual disability › X-linked syndromic intellectual disability

Related subtypes (16): Smith-Magenis syndrome, intellectual disability, Buenos-Aires type, intellectual disability, Wolff type, CK syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, 7p22.1 microduplication syndrome, 9p13 microdeletion syndrome, 3q27.3 microdeletion syndrome, 9q31.1q31.3 microdeletion syndrome, Rubinstein-Taybi syndrome, 9q33.3q34.11 microdeletion syndrome, autosomal recessive syndromic intellectual disability, autosomal dominant syndromic intellectual disability, aplasia cutis-enamel dysplasia syndrome, 2p25.3 microduplication syndrome, dyneinopathy

Subtypes (81): X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-plagiocephaly syndrome, intellectual disability, X-linked 49, MEHMO syndrome, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability, Stocco dos Santos type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome, Allan-Herndon-Dudley syndrome, syndromic X-linked intellectual disability Claes-Jensen type, X-linked intellectual disability-retinitis pigmentosa syndrome, syndromic X-linked intellectual disability 14, syndromic X-linked intellectual disability 94, intellectual disability, X-linked syndromic, Turner type, syndromic X-linked intellectual disability Shrimpton type, X-linked intellectual disability-craniofacioskeletal syndrome, syndromic X-linked intellectual disability Raymond type, syndromic X-linked intellectual disability 17, syndromic X-linked intellectual disability Nascimento type, syndromic X-linked intellectual disability Chudley-Schwartz type, X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome, X-linked intellectual disability, Cantagrel type, X-linked intellectual disability-short stature-overweight syndrome, intellectual disability, X-linked, syndromic 33, syndromic X-linked intellectual disability 34, intellectual disability, X-linked 99, syndromic, female-restricted, intellectual disability, X-linked, syndromic, Bain type, Borjeson-Forssman-Lehmann syndrome, Coffin-Lowry syndrome, syndromic X-linked intellectual disability 5, X-linked intellectual disability-seizures-psoriasis syndrome, Renpenning syndrome, Partington syndrome, syndromic X-linked intellectual disability 12, severe X-linked intellectual disability, Gustavson type, syndromic X-linked intellectual disability Snyder type, Wilson-Turner syndrome, Prieto syndrome, skeletal dysplasia-intellectual disability syndrome, X-linked intellectual disability-spastic quadriparesis syndrome, early-onset parkinsonism-intellectual disability syndrome, X-linked intellectual disability, Schimke type, X-linked intellectual disability, Cilliers type, X-linked intellectual disability, van Esch type, X-linked intellectual disability-epilepsy syndrome, ATR-X-related syndrome, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, X-linked intellectual disability, Schutz type, X-linked intellectual disability-hypotonia-movement disorder syndrome, X-linked intellectual disability with isolated growth hormone deficiency, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-precocious puberty-obesity syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability-macrocephaly-macroorchidism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Seemanova type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, X-linked intellectual disability-acromegaly-hyperactivity syndrome, X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome, fried syndrome, X-linked intellectual disability-ataxia-apraxia syndrome, intellectual developmental disorder, X-linked, syndromic, Pilorge type, Paganini-Miozzo syndrome, intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type, intellectual disability, X-linked, syndromic, 35, intellectual disability, X-linked, syndromic, Houge type, MED12-related intellectual disability syndrome, NAA10-related syndrome, ATP6AP2-related disorder, X-linked intellectual disability with hypopituitarism, SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder, intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, intellectual developmental disorder, X-linked, syndromic 37, CASK-related intellectual disability

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

7 retrieved; paginated sample, class counts are floors:

2 uncertain significance, 2 pathogenic, 1 conflicting classifications of pathogenicity, 1 not provided, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1699292	NM_001367721.1(CASK):c.2039+1G>A	CASK	Pathogenic	criteria provided, single submitter
375706	NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)	NHS	Pathogenic	criteria provided, single submitter
4075752	NM_001272071.2(AP1S2):c.4C>T (p.Gln2Ter)	AP1S2	Likely pathogenic	no assertion criteria provided
1704169	NM_001356.5(DDX3X):c.1106C>G (p.Thr369Ser)	DDX3X	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2443366	NM_153252.5(BRWD3):c.4057CAA[4] (p.Gln1354_Asp1355insGlnGln)	BRWD3	Uncertain significance	criteria provided, multiple submitters, no conflicts
1197312	NM_004187.5(KDM5C):c.2944C>T (p.Arg982Cys)	KDM5C	Uncertain significance	criteria provided, multiple submitters, no conflicts
1810328	NM_001356.5(DDX3X):c.629C>T (p.Ala210Val)	DDX3X	not provided	no classification provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 15 · 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
DDX3X	Definitive	X-linked	intellectual disability, X-linked 102	7
STEEP1	Moderate	X-linked	intellectual disability, X-linked 107	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DDX3X	Orphanet:3338	Toriello-Carey syndrome
DDX3X	Orphanet:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome
DDX3X	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia
STEEP1	Orphanet:777	X-linked non-syndromic intellectual disability
KDM5C	Orphanet:85279	KDM5C-related syndromic X-linked intellectual disability
CASK	Orphanet:163937	X-linked intellectual disability, Najm type
CASK	Orphanet:1934	Early infantile developmental and epileptic encephalopathy
CASK	Orphanet:777	X-linked non-syndromic intellectual disability
BRWD3	Orphanet:528084	Non-specific syndromic intellectual disability
AP1S2	Orphanet:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
AP1S2	Orphanet:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
AP1S2	Orphanet:85335	Fried syndrome
NHS	Orphanet:627	Nance-Horan syndrome
NHS	Orphanet:98991	Early-onset nuclear cataract
NHS	Orphanet:98994	Total early-onset cataract

Cohort genes → proteins

7 cohort genes, 7 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DDX3X	HGNC:2745	ENSG00000215301	O00571	ATP-dependent RNA helicase DDX3X	gencc,clinvar
STEEP1	HGNC:26239	ENSG00000018610	Q9H5V9	STING ER exit protein	gencc
KDM5C	HGNC:11114	ENSG00000126012	P41229	Lysine-specific demethylase 5C	clinvar
CASK	HGNC:1497	ENSG00000147044	O14936	Peripheral plasma membrane protein CASK	clinvar
BRWD3	HGNC:17342	ENSG00000165288	Q6RI45	Bromodomain and WD repeat-containing protein 3	clinvar
AP1S2	HGNC:560	ENSG00000182287	P56377	AP-1 complex subunit sigma-2	clinvar
NHS	HGNC:7820	ENSG00000188158	Q6T4R5	Actin remodeling regulator NHS	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DDX3X	ATP-dependent RNA helicase DDX3X	Multifunctional ATP-dependent RNA helicase.
STEEP1	STING ER exit protein	Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport.
KDM5C	Lysine-specific demethylase 5C	Histone demethylase that specifically demethylates ‘Lys-4’ of histone H3, thereby playing a central role in histone code.
CASK	Peripheral plasma membrane protein CASK	Multidomain scaffolding Mg(2+)-independent protein kinase that catalyzes the phosphotransfer from ATP to proteins such as NRXN1, and plays a role in synaptic transmembrane protein anchoring and ion channel trafficking.
BRWD3	Bromodomain and WD repeat-containing protein 3	Plays a role in the regulation of cell morphology and cytoskeletal organization.
AP1S2	AP-1 complex subunit sigma-2	Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes.
NHS	Actin remodeling regulator NHS	May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation.

Protein-family classification

Druggable: 2 · Difficult: 2 · Unknown: 3 · Druggable fraction: 0.29

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
Kinase	1	4.0×	0.744
Scaffold/PPI	1	2.5×	0.744
Enzyme (other)	1	1.7×	0.744
Transcription factor	1	1.2×	0.744
Other/Unknown	3	0.8×	0.858

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DDX3X	Enzyme (other)	yes	3.6.4.13	RNA-helicase_DEAD-box_CS, Helicase_C-like, DEAD/DEAH_box_helicase_dom
STEEP1	Other/Unknown	no		STEEP-like, STEEP1_dom
KDM5C	Transcription factor	no	1.14.11.67	ARID_dom, Znf_PHD, JmjC_dom
CASK	Kinase	yes	2.7.11.1	Prot_kinase_dom, SH3_domain, PDZ
BRWD3	Scaffold/PPI	no		Bromodomain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf
AP1S2	Other/Unknown	no		Clathrin_sm-chain_CS, Longin-like_dom_sf, AP_complex_ssu
NHS	Other/Unknown	no		NHS-like

Expression context

Cohort genes with no expression data: 0.

7 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)	7
unknown	0

Top tissues across cohort

Tissue	Cohort genes
oocyte	2
stromal cell of endometrium	2
buccal mucosa cell	2
choroid plexus epithelium	1
sperm	1
secondary oocyte	1
right uterine tube	1
sural nerve	1
cortical plate	1
hair follicle	1
calcaneal tendon	1
epithelial cell of pancreas	1
tendon of biceps brachii	1
cauda epididymis	1
corpus epididymis	1
monocyte	1
endothelial cell	1
oviduct epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DDX3X	294	ubiquitous	marker	choroid plexus epithelium, oocyte, sperm
STEEP1	240	ubiquitous	marker	oocyte, stromal cell of endometrium, secondary oocyte
KDM5C	279	ubiquitous	marker	sural nerve, stromal cell of endometrium, right uterine tube
CASK	284	ubiquitous	marker	buccal mucosa cell, hair follicle, cortical plate
BRWD3	223	ubiquitous	marker	tendon of biceps brachii, epithelial cell of pancreas, calcaneal tendon
AP1S2	289	ubiquitous	marker	corpus epididymis, cauda epididymis, monocyte
NHS	214	ubiquitous	marker	oviduct epithelium, buccal mucosa cell, endothelial cell

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DDX3X	6,454
CASK	4,223
KDM5C	4,183
BRWD3	2,714
AP1S2	1,346
STEEP1	1,195
NHS	970

Intra-cohort edges

A	B	Sources
DDX3X	KDM5C	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CASK	O14936	22
DDX3X	O00571	17
STEEP1	Q9H5V9	2
KDM5C	P41229	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
AP1S2	P56377	94.36
BRWD3	Q6RI45	65.11
NHS	Q6T4R5	43.65

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 35. Enrichment computed across 7 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
Nef mediated downregulation of MHC class I complex cell surface expression	1	190.3×	0.070	AP1S2
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	1	105.7×	0.070	AP1S2
The role of Nef in HIV-1 replication and disease pathogenesis	1	105.7×	0.070	AP1S2
Dopamine Neurotransmitter Release Cycle	1	82.8×	0.070	CASK
Nephrin family interactions	1	79.3×	0.070	CASK
Syndecan interactions	1	70.5×	0.070	CASK
Host Interactions of HIV factors	1	56.0×	0.070	AP1S2
Dengue virus activates/modulates innate and adaptive immune responses	1	56.0×	0.070	DDX3X
Lysosome Vesicle Biogenesis	1	54.4×	0.070	AP1S2
trans-Golgi Network Vesicle Budding	1	42.3×	0.070	AP1S2
Assembly and cell surface presentation of NMDA receptors	1	42.3×	0.070	CASK
HDMs demethylate histones	1	38.1×	0.070	KDM5C
Sensory processing of sound by outer hair cells of the cochlea	1	34.0×	0.070	CASK
Golgi Associated Vesicle Biogenesis	1	33.4×	0.070	AP1S2
Neurexins and neuroligins	1	32.8×	0.070	CASK
Sensory processing of sound by inner hair cells of the cochlea	1	27.2×	0.079	CASK
RAC2 GTPase cycle	1	21.1×	0.091	NHS
HIV Infection	1	19.8×	0.091	AP1S2
RAC3 GTPase cycle	1	19.8×	0.091	NHS
mRNA Splicing	1	18.3×	0.093	STEEP1
MHC class II antigen presentation	1	14.9×	0.109	AP1S2
Processing of Capped Intron-Containing Pre-mRNA	1	13.7×	0.109	STEEP1
Chromatin organization	1	13.6×	0.109	KDM5C
Chromatin modifying enzymes	1	12.1×	0.117	KDM5C
RAC1 GTPase cycle	1	10.2×	0.132	NHS
mRNA Splicing - Major Pathway	1	9.1×	0.141	STEEP1
Metabolism of RNA	1	7.0×	0.176	STEEP1
Membrane Trafficking	1	6.2×	0.189	AP1S2
Vesicle-mediated transport	1	5.8×	0.194	AP1S2
Viral Infection Pathways	1	5.1×	0.209	AP1S2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 7 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of cellular response to growth factor stimulus	1	1203.7×	0.022	CASK
positive regulation of toll-like receptor 8 signaling pathway	1	802.5×	0.022	DDX3X
positive regulation of translation in response to endoplasmic reticulum stress	1	601.9×	0.022	DDX3X
positive regulation of toll-like receptor 7 signaling pathway	1	481.5×	0.022	DDX3X
positive regulation of chemokine (C-C motif) ligand 5 production	1	401.2×	0.022	DDX3X
cytosolic ribosome assembly	1	343.9×	0.022	DDX3X
endoplasmic reticulum membrane organization	1	343.9×	0.022	STEEP1
protein exit from endoplasmic reticulum	1	300.9×	0.022	STEEP1
cellular response to arsenic-containing substance	1	300.9×	0.022	DDX3X
positive regulation of protein K63-linked ubiquitination	1	300.9×	0.022	DDX3X
protein localization to cytoplasmic stress granule	1	300.9×	0.022	DDX3X
negative regulation of wound healing	1	185.2×	0.029	CASK
cellular response to osmotic stress	1	172.0×	0.029	DDX3X
positive regulation of mitochondrial translation	1	160.5×	0.029	DDX3X
positive regulation of calcium ion import	1	133.8×	0.029	CASK
negative regulation of cell-matrix adhesion	1	126.7×	0.029	CASK
cytoplasmic pattern recognition receptor signaling pathway	1	126.7×	0.029	DDX3X
gamete generation	1	126.7×	0.029	DDX3X
melanosome assembly	1	126.7×	0.029	AP1S2
positive regulation of translational initiation	1	120.4×	0.029	DDX3X
calcium ion import	1	114.6×	0.029	CASK
regulation of neurotransmitter secretion	1	109.4×	0.029	CASK
negative regulation of intrinsic apoptotic signaling pathway	1	109.4×	0.029	DDX3X
negative regulation of keratinocyte proliferation	1	100.3×	0.029	CASK
platelet dense granule organization	1	96.3×	0.029	AP1S2
positive regulation of interferon-alpha production	1	92.6×	0.029	DDX3X
stress granule assembly	1	86.0×	0.029	DDX3X
positive regulation of viral genome replication	1	83.0×	0.029	DDX3X
positive regulation of NLRP3 inflammasome complex assembly	1	83.0×	0.029	DDX3X
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	1	83.0×	0.029	DDX3X

Therapeutics

Drug target analysis

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

Druggability breadth: 5 of 7 evidence-associated genes (71%) 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
DDX3X	IMATINIB
KDM5C	DEFERIPRONE
CASK	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CASK	9	4
DDX3X	1	4
KDM5C	1	4
STEEP1	0	0
BRWD3	0	0
AP1S2	0	0
NHS	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
IMATINIB	4	DDX3X
DEFERIPRONE	4	KDM5C
FEDRATINIB	4	CASK
RUXOLITINIB	4	CASK
BOSUTINIB	4	CASK
CRIZOTINIB	4	CASK
LESTAURTINIB	3	CASK
CYC-065	2	CASK
RG-547	2	CASK
AT-7519	2	CASK
BMS-387032	1	CASK

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

Symbol	Assays	Type breakdown
CASK	92	Binding:92
KDM5C	49	Binding:49
DDX3X	32	Binding:31, ADMET:1
STEEP1	6	Binding:6
BRWD3	5	Binding:5

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
DDX3X	3.6.4.13	RNA helicase
KDM5C	1.14.11.67	[histone H3]-trimethyl-L-lysine4 demethylase
CASK	2.7.11.1, 2.7.4.8	non-specific serine/threonine protein kinase, guanylate kinase

Pharmacogenomics

Cohort genes with a PharmGKB record: 7; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

11 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)
IMATINIB	4	DDX3X
DEFERIPRONE	4	KDM5C
FEDRATINIB	4	CASK
RUXOLITINIB	4	CASK
BOSUTINIB	4	CASK
CRIZOTINIB	4	CASK
LESTAURTINIB	3	CASK
CYC-065	2	CASK
RG-547	2	CASK
AT-7519	2	CASK
BMS-387032	1	CASK

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	DDX3X, KDM5C, CASK
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	4	STEEP1, BRWD3, AP1S2, NHS

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
STEEP1	6	—
BRWD3	5	—
AP1S2	0	—
NHS	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.