Agenesis of the corpus callosum with peripheral neuropathy

Summary

Agenesis of the corpus callosum with peripheral neuropathy (MONDO:0000902) is a disease caused by SLC12A6 (GenCC Definitive), with 4 cohort genes.

At a glance

• Prevalence: 1-5 / 10 000 (Specific population) [Orphanet-validated]
• Causal gene: SLC12A6 (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 475
• Phenotypes (HPO): 14

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	47	Specific population	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Not yet validated

Signs & symptoms

Clinical features (HPO)

14 HPO clinical features (Orphanet curated; top 14 by frequency):

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001274	Agenesis of corpus callosum	Very frequent (80-99%)
HP:0002353	EEG abnormality	Very frequent (80-99%)
HP:0004374	Hemiplegia/hemiparesis	Very frequent (80-99%)
HP:0002410	Aqueductal stenosis	Frequent (30-79%)
HP:0000262	Turricephaly	Occasional (5-29%)
HP:0000486	Strabismus	Occasional (5-29%)
HP:0000545	Myopia	Occasional (5-29%)
HP:0000639	Nystagmus	Occasional (5-29%)
HP:0001363	Craniosynostosis	Occasional (5-29%)
HP:0007703	Abnormality of retinal pigmentation	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	agenesis of the corpus callosum with peripheral neuropathy
Mondo ID	MONDO:0000902
MeSH	C536446
OMIM	218000
Orphanet	1496
DOID	DOID:0060600, DOID:0090003
ICD-11	1443432032
SNOMED CT	702439002
UMLS	C0795950
MedGen	162893
GARD	0001537
Is cancer (heuristic)	no

Also known as: ACCPN · agenesis of corpus callosum with neuronopathy · agenesis of corpus callosum with peripheral neuropathy · agenesis of corpus callosum with polyneuropathy · agenesis of the corpus callosum with peripheral neuropathy · Andermann syndrome · Charlevoix disease · corpus callosum agenesis neuronopathy · corpus callosum agenesis-neuronopathy syndrome · hereditary motor and sensory neuropathy with agenesis of the corpus callosum · HMSN/ACC · peripheral neuropathy associated with agenesis of the corpus callosum

Data availability: 475 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › neurodegenerative disease › inherited neurodegenerative disorder › agenesis of the corpus callosum with peripheral neuropathy

Related subtypes (81): Huntington disease and related disorders, striatonigral degeneration, angioid streaks of choroid, amyotrophic lateral sclerosis-parkinsonism-dementia complex, inherited Creutzfeldt-Jakob disease, mitochondrial DNA depletion syndrome 4a, cerebellar ataxia-hypogonadism syndrome, myoclonic cerebellar dyssynergia, cerebral sclerosis similar to Pelizaeus-Merzbacher disease, Chediak-Higashi syndrome, encephalopathy due to beta-mercaptolactate-cysteine disulfiduria, PEHO syndrome, deafness dystonia syndrome, Kennedy disease, fatal familial insomnia, Huntington disease-like 1, neuronal intranuclear inclusion disease, ataxia-telangiectasia-like disorder, radiation sensitivity/chromosome instability syndrome, autosomal dominant, Huntington disease-like 2, microphthalmia-brain atrophy syndrome, neurodegenerative syndrome due to cerebral folate transport deficiency, hereditary sensory neuropathy-deafness-dementia syndrome, infantile cerebellar-retinal degeneration, Alzheimer disease 17, hypotonia, infantile, with psychomotor retardation and characteristic facies, Alzheimer disease 18, diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, severe neurodegenerative syndrome with lipodystrophy, developmental and epileptic encephalopathy, 35, combined oxidative phosphorylation deficiency 29, neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, neuronal ceroid lipofuscinosis, frontotemporal dementia with motor neuron disease, frontotemporal dementia, GM2 gangliosidosis, attenuated Chédiak-Higashi syndrome, autosomal recessive cerebral atrophy, neurodegeneration with brain iron accumulation, fatal post-viral neurodegenerative disorder, ferro-cerebro-cutaneous syndrome, PRKAR1B-related neurodegenerative dementia with intermediate filaments, ITM2B amyloidosis, corticobasal syndrome, infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome, recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome, posterior cortical atrophy, progressive supranuclear palsy, leukodystrophy, hereditary spastic paraplegia, facial onset sensory and motor neuronopathy, X-linked neurodegenerative syndrome, Bertini type, X-linked neurodegenerative syndrome, Hamel type, boylan dew greco syndrome, hereditary motor neuron disease, neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, frontotemporal dementia and/or amyotrophic lateral sclerosis, neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities, neurodegeneration with ataxia and late-onset optic atrophy, neurodegeneration, childhood-onset, with cerebellar atrophy, neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, neurodegeneration, infantile-onset, biotin-responsive, hereditary optic atrophy, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome, familial Alzheimer disease, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, hereditary cerebellar ataxia, DCTN1-related neurodegeneration, early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, TUBB4A-related neurologic disorder, neurodegeneration, childhood-onset, with progressive microcephaly, neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, neurodegeneration and seizures due to copper transport defect, neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, neurodegenerative disorder, X-linked, female-restricted, with parkinsonism and cognitive impairment, neurodegenerative disorder with cerebellar and caudate atrophy, APP-related brain and vascular amyloidosis

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

475 retrieved; paginated sample, class counts are floors:

184 uncertain significance, 118 likely pathogenic, 49 likely benign, 43 benign, 27 conflicting classifications of pathogenicity, 25 pathogenic/likely pathogenic, 17 pathogenic, 12 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1068924	NM_001365088.1(SLC12A6):c.2509_2510insTC (p.Glu837fs)	LOC126862097	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3366315	NM_001365088.1(SLC12A6):c.690+6T>A	LOC129390683	Pathogenic	criteria provided, single submitter
370396	NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)	LOC129390683	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1029940	NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1029941	NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter)	SLC12A6	Pathogenic	criteria provided, single submitter
1072743	NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1075166	NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
136175	NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs)	SLC12A6	Pathogenic	no assertion criteria provided
136176	NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs)	SLC12A6	Pathogenic	no assertion criteria provided
136177	NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs)	SLC12A6	Pathogenic	no assertion criteria provided
1388798	NM_001365088.1(SLC12A6):c.2893dup (p.Tyr965fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1451911	NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1452914	NM_001365088.1(SLC12A6):c.2710G>T (p.Glu904Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
159897	NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1705184	NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
188972	NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1987661	NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678741	NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)	SLC12A6	Pathogenic	criteria provided, single submitter
2678744	NM_001365088.1(SLC12A6):c.2265G>A (p.Trp755Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678746	NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678754	NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2678765	NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2759948	NM_001365088.1(SLC12A6):c.1786C>T (p.Gln596Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2876293	NM_001365088.1(SLC12A6):c.3061C>T (p.Arg1021Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
30440	NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter)	SLC12A6	Pathogenic	criteria provided, multiple submitters, no conflicts
3240465	NM_001365088.1(SLC12A6):c.3361+1G>C	SLC12A6	Pathogenic	criteria provided, single submitter
370137	NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
370139	NM_001365088.1(SLC12A6):c.1118+1G>A	SLC12A6	Pathogenic	criteria provided, multiple submitters, no conflicts
370269	NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter)	SLC12A6	Pathogenic	criteria provided, single submitter
370595	NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter)	SLC12A6	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 5 · 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
SLC12A6	Definitive	Autosomal recessive	agenesis of the corpus callosum with peripheral neuropathy	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
SLC12A6	Orphanet:1496	Corpus callosum agenesis-neuronopathy syndrome
CLN6	Orphanet:700467	Late infantile CLN6 disease
CLN6	Orphanet:700472	Juvenile CLN6 disease
CLN6	Orphanet:700477	Adult CLN6 disease
ATP2B2	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC12A6	HGNC:10914	ENSG00000140199	Q9UHW9	Solute carrier family 12 member 6	gencc,clinvar
CLN6	HGNC:2077	ENSG00000128973	Q9NWW5	Ceroid-lipofuscinosis neuronal protein 6	clinvar
EMC4	HGNC:28032	ENSG00000128463	Q5J8M3	ER membrane protein complex subunit 4	clinvar
ATP2B2	HGNC:815	ENSG00000157087	Q01814	Plasma membrane calcium-transporting ATPase 2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC12A6	Solute carrier family 12 member 6	Mediates electroneutral potassium-chloride cotransport when activated by cell swelling.
EMC4	ER membrane protein complex subunit 4	Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins.
ATP2B2	Plasma membrane calcium-transporting ATPase 2	ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.0

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	1	2.1×	0.404
Other/Unknown	3	1.3×	0.404

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC12A6	Other/Unknown	no		KCL_cotranspt, AA-permease/SLC12A_dom, SLC12A_fam
CLN6	Other/Unknown	no		CLN6
EMC4	Other/Unknown	no		TMEM85/Emc4
ATP2B2	Transcription factor	no	7.2.2.10	P_typ_ATPase, ATPase_P-typ_cation-transptr_N, ATPase_P-typ_cation-transptr_C

Expression context

Cohort genes with no expression data: 0.

4 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)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood	1
esophagus squamous epithelium	1
secondary oocyte	1
bone marrow	1
leukocyte	1
monocyte	1
calcaneal tendon	1
left ventricle myocardium	1
upper arm skin	1
Brodmann (1909) area 46	1
endothelial cell	1
lateral nuclear group of thalamus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC12A6	274	ubiquitous	marker	esophagus squamous epithelium, blood, secondary oocyte
CLN6	139	ubiquitous	marker	monocyte, leukocyte, bone marrow
EMC4	260	ubiquitous	marker	left ventricle myocardium, calcaneal tendon, upper arm skin
ATP2B2	203	tissue_specific	marker	lateral nuclear group of thalamus, endothelial cell, Brodmann (1909) area 46

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ATP2B2	3,932
EMC4	2,120
SLC12A6	1,463
CLN6	1,107

Structural data

PDB: 2 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
EMC4	Q5J8M3	9
SLC12A6	Q9UHW9	8

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CLN6	Q9NWW5	85.86
ATP2B2	Q01814	73.83

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 20. Enrichment computed across 4 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	1	3806.7×	0.005	SLC12A6
Cation-coupled Chloride cotransporters	1	543.8×	0.018	SLC12A6
Reduction of cytosolic Ca++ levels	1	317.2×	0.018	ATP2B2
Platelet calcium homeostasis	1	237.9×	0.018	ATP2B2
Transport of small molecules	2	16.8×	0.018	SLC12A6, ATP2B2
Platelet homeostasis	1	92.8×	0.027	ATP2B2
Dengue Virus Attachment and Entry	1	86.5×	0.027	EMC4
Ion transport by P-type ATPases	1	69.2×	0.027	ATP2B2
Ion homeostasis	1	68.0×	0.027	ATP2B2
SLC transporter disorders	1	68.0×	0.027	SLC12A6
Sensory processing of sound by outer hair cells of the cochlea	1	68.0×	0.027	ATP2B2
Sensory processing of sound by inner hair cells of the cochlea	1	54.4×	0.030	ATP2B2
Disorders of transmembrane transporters	1	46.4×	0.033	SLC12A6
R-HSA-425393	1	43.3×	0.033	SLC12A6
Cardiac conduction	1	36.2×	0.036	ATP2B2
Ion channel transport	1	32.0×	0.039	ATP2B2
Muscle contraction	1	25.7×	0.045	ATP2B2
SLC-mediated transmembrane transport	1	19.7×	0.055	SLC12A6
Hemostasis	1	12.0×	0.085	ATP2B2
Disease	1	4.4×	0.212	SLC12A6

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cellular hypotonic salinity response	1	1404.3×	0.012	SLC12A6
ganglioside metabolic process	1	1053.2×	0.012	CLN6
glycosaminoglycan metabolic process	1	601.9×	0.012	CLN6
locomotion involved in locomotory behavior	1	601.9×	0.012	CLN6
protein insertion into ER membrane by stop-transfer membrane-anchor sequence	1	383.0×	0.012	EMC4
chloride ion homeostasis	1	383.0×	0.012	SLC12A6
cellular hypotonic response	1	351.1×	0.012	SLC12A6
tail-anchored membrane protein insertion into ER membrane	1	234.1×	0.014	EMC4
regulation of cardiac conduction	1	210.7×	0.014	ATP2B2
positive regulation of proteolysis	1	200.6×	0.014	CLN6
potassium ion homeostasis	1	191.5×	0.014	SLC12A6
lysosomal lumen acidification	1	168.5×	0.015	CLN6
cell volume homeostasis	1	150.5×	0.015	SLC12A6
regulation of cytosolic calcium ion concentration	1	95.8×	0.022	ATP2B2
potassium ion import across plasma membrane	1	91.6×	0.022	SLC12A6
lysosome organization	1	76.6×	0.024	CLN6
cellular response to glucose stimulus	1	66.9×	0.026	SLC12A6
protein catabolic process	1	59.3×	0.026	CLN6
chloride transmembrane transport	1	59.3×	0.026	SLC12A6
monoatomic ion transmembrane transport	1	52.0×	0.029	ATP2B2
cholesterol metabolic process	1	49.0×	0.029	CLN6
calcium ion transport	1	45.3×	0.030	ATP2B2
monoatomic ion transport	1	39.0×	0.033	SLC12A6
potassium ion transmembrane transport	1	34.0×	0.036	SLC12A6
sensory perception of sound	1	25.2×	0.045	ATP2B2
neuron differentiation	1	25.1×	0.045	ATP2B2
visual perception	1	19.9×	0.054	CLN6
chemical synaptic transmission	1	19.3×	0.054	SLC12A6
angiogenesis	1	15.6×	0.065	SLC12A6
apoptotic process	1	7.2×	0.132	EMC4

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4

Druggability breadth: 1 of 4 evidence-associated genes (25%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC12A6	0	0
CLN6	0	0
EMC4	0	0
ATP2B2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
CLN6	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ATP2B2	7.2.2.10	P-type Ca2+ transporter

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

0 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.

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
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	SLC12A6, CLN6, EMC4, ATP2B2

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)
SLC12A6	0	—
CLN6	1	—
EMC4	0	—
ATP2B2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.