Cerebellar dysfunction with variable cognitive and behavioral abnormalities

Summary

Cerebellar dysfunction with variable cognitive and behavioral abnormalities (MONDO:0013886) is a disease caused by CAMTA1 (GenCC Definitive), with 7 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: CAMTA1 (GenCC Definitive)
• Cohort genes: 7
• ClinVar variants: 177
• Phenotypes (HPO): 39

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		15	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

39 HPO clinical features (Orphanet curated; top 39 by frequency):

HPO ID	Term	Frequency
HP:0001256	Intellectual disability, mild	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0000179	Thick lower lip vermilion	Frequent (30-79%)
HP:0000276	Long face	Frequent (30-79%)
HP:0000307	Pointed chin	Frequent (30-79%)
HP:0000343	Long philtrum	Frequent (30-79%)
HP:0000414	Bulbous nose	Frequent (30-79%)
HP:0000445	Wide nose	Frequent (30-79%)
HP:0000463	Anteverted nares	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000490	Deeply set eye	Frequent (30-79%)
HP:0000718	Aggressive behavior	Frequent (30-79%)
HP:0000729	Autistic behavior	Frequent (30-79%)
HP:0000750	Delayed speech and language development	Frequent (30-79%)
HP:0001251	Ataxia	Frequent (30-79%)
HP:0001260	Dysarthria	Frequent (30-79%)
HP:0001310	Dysmetria	Frequent (30-79%)
HP:0001319	Neonatal hypotonia	Frequent (30-79%)
HP:0001321	Cerebellar hypoplasia	Frequent (30-79%)
HP:0002019	Constipation	Frequent (30-79%)
HP:0002317	Unsteady gait	Frequent (30-79%)
HP:0002354	Memory impairment	Frequent (30-79%)
HP:0002470	Nonprogressive cerebellar ataxia	Frequent (30-79%)
HP:0002536	Abnormal cortical gyration	Frequent (30-79%)
HP:0011166	Focal myoclonic seizure	Frequent (30-79%)
HP:0012433	Abnormal social behavior	Frequent (30-79%)
HP:0000639	Nystagmus	Excluded (0%)
HP:0002403	Positive Romberg sign	Excluded (0%)
HP:0000160	Narrow mouth	Very rare (<1-4%)
HP:0000256	Macrocephaly	Very rare (<1-4%)
HP:0001348	Brisk reflexes	Very rare (<1-4%)
HP:0002003	Large forehead	Very rare (<1-4%)
HP:0002080	Intention tremor	Very rare (<1-4%)
HP:0002120	Cerebral cortical atrophy	Very rare (<1-4%)
HP:0007256	Abnormal pyramidal sign	Very rare (<1-4%)
HP:0011067	Mesiodens	Very rare (<1-4%)
HP:0025517	Hypoplastic hippocampus	Very rare (<1-4%)
HP:0100540	Palpebral edema	Very rare (<1-4%)
HP:0400005	Short ear	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	cerebellar dysfunction with variable cognitive and behavioral abnormalities
Mondo ID	MONDO:0013886
OMIM	614756
Orphanet	314647
DOID	DOID:0050998
SNOMED CT	723441001
UMLS	C3553661
MedGen	766575
GARD	0017429
Is cancer (heuristic)	no

Also known as: CAMTA1-related disorder · CANPMR · cerebellar ataxia, nonprogressive, with intellectual disability · cerebellar ataxia, nonprogressive, with mental retardation · cerebellar dysfunction with variable cognitive and behavioral abnormalities · non-progressive cerebellar ataxia with intellectual disability · nonprogressive cerebellar ataxia with intellectual disability

Data availability: 177 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant cerebellar ataxia › autosomal dominant cerebellar ataxia type I › cerebellar dysfunction with variable cognitive and behavioral abnormalities

Related subtypes (29): Machado-Joseph disease, spinocerebellar ataxia type 29, spinocerebellar ataxia type 34, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, spinocerebellar ataxia type 4, cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, autosomal dominant cerebellar ataxia, deafness and narcolepsy, spinocerebellar ataxia type 12, spinocerebellar ataxia type 13, spinocerebellar ataxia type 14, spinocerebellar ataxia type 15/16, spinocerebellar ataxia type 17, spinocerebellar ataxia type 19/22, spinocerebellar ataxia type 21, spinocerebellar ataxia type 18, spinocerebellar ataxia type 20, spinocerebellar ataxia type 25, spinocerebellar ataxia type 8, spinocerebellar ataxia type 27, spinocerebellar ataxia type 23, spinocerebellar ataxia type 28, spinocerebellar ataxia type 35, spinocerebellar ataxia type 32, spinocerebellar ataxia type 36, spinocerebellar ataxia type 37, spinocerebellar ataxia type 40, spinocerebellar ataxia 46, neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism

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

177 retrieved; paginated sample, class counts are floors:

91 uncertain significance, 25 pathogenic, 23 likely pathogenic, 10 benign, 8 likely benign, 7 conflicting classifications of pathogenicity, 7 benign/likely benign, 6 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1334751	NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1342305	NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)	CAMTA1	Pathogenic	no assertion criteria provided
1342309	NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)	CAMTA1	Pathogenic	no assertion criteria provided
1685599	NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)	CAMTA1	Pathogenic	criteria provided, multiple submitters, no conflicts
1700201	NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1723214	NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)	CAMTA1	Pathogenic	criteria provided, single submitter
1804080	NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)	CAMTA1	Pathogenic	criteria provided, multiple submitters, no conflicts
2582483	NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)	CAMTA1	Pathogenic	criteria provided, single submitter
280426	NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
280872	NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)	CAMTA1	Pathogenic	criteria provided, multiple submitters, no conflicts
3254720	NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)	CAMTA1	Pathogenic	criteria provided, single submitter
3376151	NM_015215.4(CAMTA1):c.578del (p.Gly193fs)	CAMTA1	Pathogenic	criteria provided, single submitter
37006	NC_000001.10:g.7119268_7200395del	CAMTA1	Pathogenic	no assertion criteria provided
37007	NC_000001.10:g.6882372_7422115dup	CAMTA1	Pathogenic	no assertion criteria provided
37008	NC_000001.9:g.6777038_6826186del	CAMTA1	Pathogenic	no assertion criteria provided
3901214	NM_015215.4(CAMTA1):c.4116_4129delinsCACGGTAGG (p.Glu1373fs)	CAMTA1	Pathogenic	criteria provided, single submitter
3902685	NC_000001.10:g.(7700614_7721785)_(7737794_7792507)del	CAMTA1	Pathogenic	criteria provided, single submitter
390487	NM_015215.4(CAMTA1):c.4921C>T (p.Arg1641Ter)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4056332	NM_015215.4(CAMTA1):c.271G>T (p.Glu91Ter)	CAMTA1	Pathogenic	criteria provided, single submitter
4082349	NM_015215.4:c.(234+1_235-1)_(438+1_439-1)del	CAMTA1	Pathogenic	criteria provided, single submitter
422992	NM_015215.4(CAMTA1):c.838del (p.Ser280fs)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
426685	NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)	CAMTA1	Pathogenic	criteria provided, single submitter
432176	NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)	CAMTA1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4813051	NM_015215.4(CAMTA1):c.1747C>T (p.Gln583Ter)	CAMTA1	Pathogenic	criteria provided, single submitter
4813437	NM_015215.4(CAMTA1):c.294del (p.Lys99fs)	CAMTA1	Pathogenic	criteria provided, single submitter
599309	NM_015215.4(CAMTA1):c.511-18459_511-15460del	CAMTA1	Pathogenic	criteria provided, single submitter
801430	NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)	CAMTA1	Pathogenic	criteria provided, multiple submitters, no conflicts
973263	NM_015215.4(CAMTA1):c.4049_4051delinsGTGCTGC (p.Pro1350fs)	CAMTA1	Pathogenic	criteria provided, single submitter
976737	NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)	CAMTA1	Pathogenic	criteria provided, single submitter
982402	NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	CAMTA1	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 7 · 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
CAMTA1	Definitive	Autosomal dominant	cerebellar dysfunction with variable cognitive and behavioral abnormalities	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CAMTA1	Orphanet:157791	Epithelioid hemangioendothelioma
CAMTA1	Orphanet:314647	Non-progressive cerebellar ataxia with intellectual disability
SLC9A1	Orphanet:448251	Progressive autosomal recessive ataxia-deafness syndrome
PRDM16	Orphanet:154	Familial isolated dilated cardiomyopathy
PRDM16	Orphanet:1606	1p36 deletion syndrome
PRDM16	Orphanet:54260	Left ventricular noncompaction
NID1	Orphanet:269215	Isolated Dandy-Walker malformation without hydrocephalus

Cohort genes → proteins

7 cohort genes, 6 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	7

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
CAMTA1	HGNC:18806	ENSG00000171735	Q9Y6Y1	Calmodulin-binding transcription activator 1	gencc,clinvar
SLC9A1	HGNC:11071	ENSG00000090020	P19634	Sodium/hydrogen exchanger 1	clinvar
PRDM16	HGNC:14000	ENSG00000142611	Q9HAZ2	Histone-lysine N-methyltransferase PRDM16	clinvar
CAMTA2	HGNC:18807	ENSG00000108509	O94983	Calmodulin-binding transcription activator 2	clinvar
CFAP107	HGNC:28567	ENSG00000157330	Q8N1D5	Cilia- and flagella-associated protein 107	clinvar
OBI1-AS1	HGNC:42700	ENSG00000234377		OBI1 antisense RNA 1	clinvar
NID1	HGNC:7821	ENSG00000116962	P14543	Nidogen-1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CAMTA1	Calmodulin-binding transcription activator 1	Transcriptional activator.
SLC9A1	Sodium/hydrogen exchanger 1	Electroneutral Na(+) /H(+) antiporter that extrudes Na(+) in exchange for external protons driven by the inward sodium ion chemical gradient, protecting cells from acidification that occurs from metabolism.
PRDM16	Histone-lysine N-methyltransferase PRDM16	Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context.
CAMTA2	Calmodulin-binding transcription activator 2	Transcription activator.
CFAP107	Cilia- and flagella-associated protein 107	Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
NID1	Nidogen-1	Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin.

Protein-family classification

Druggable: 2 · Difficult: 1 · Unknown: 4 · 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
Antibody/Immunoglobulin	2	8.3×	0.066
Transcription factor	1	1.2×	0.626
Other/Unknown	4	1.0×	0.626

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CAMTA1	Antibody/Immunoglobulin	yes		IQ_motif_EF-hand-BS, Ankyrin_rpt, IPT_dom
SLC9A1	Other/Unknown	no		NHE-1-like, NaH_exchanger, Cation/H_exchanger_TM
PRDM16	Transcription factor	no	2.1.1.367	SET_dom, Znf_C2H2_type, Znf_C2H2_sf
CAMTA2	Antibody/Immunoglobulin	yes		IPT_dom, CG-1_dom, Ig-like_fold
CFAP107	Other/Unknown	no		CFAP68/107, CFAP107
OBI1-AS1	Other/Unknown	no
NID1	Other/Unknown	no		LDLR_classB_rpt, EGF-type_Asp/Asn_hydroxyl_site, Thyroglobulin_1

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
parotid gland	2
heart right ventricle	1
postcentral gyrus	1
mucosa of transverse colon	1
oocyte	1
ascending aorta	1
pigmented layer of retina	1
sural nerve	1
cerebellar hemisphere	1
right frontal lobe	1
right hemisphere of cerebellum	1
bronchial epithelial cell	1
bronchus	1
right uterine tube	1
caudate nucleus	1
corpus callosum	1
male germ line stem cell (sensu Vertebrata) in testis	1
lower lobe of lung	1
mucosa of stomach	1
stromal cell of endometrium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CAMTA1	287	ubiquitous	marker	parotid gland, postcentral gyrus, heart right ventricle
SLC9A1	273	ubiquitous	marker	parotid gland, mucosa of transverse colon, oocyte
PRDM16	202	broad	marker	sural nerve, pigmented layer of retina, ascending aorta
CAMTA2	239	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, right frontal lobe
CFAP107	96	tissue_specific	marker	right uterine tube, bronchial epithelial cell, bronchus
OBI1-AS1	121	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, caudate nucleus, corpus callosum
NID1	262	ubiquitous	marker	stromal cell of endometrium, mucosa of stomach, lower lobe of lung

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PRDM16	2,633
SLC9A1	2,023
NID1	1,702
CAMTA1	994
CFAP107	695
CAMTA2	641
OBI1-AS1	0

Intra-cohort edges

A	B	Sources
CAMTA1	CAMTA2	string_interaction

Structural data

PDB: 4 · AlphaFold-only: 2 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SLC9A1	P19634	20
PRDM16	Q9HAZ2	2
CFAP107	Q8N1D5	2
CAMTA1	Q9Y6Y1	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
NID1	P14543	78.50
CAMTA2	O94983	60.82

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 13. Enrichment computed across 7 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
Sodium/Proton exchangers	1	423.0×	0.018	SLC9A1
Hyaluronan metabolism	1	317.2×	0.018	SLC9A1
Hyaluronan degradation	1	237.9×	0.018	SLC9A1
Laminin interactions	1	126.9×	0.020	NID1
Transcriptional regulation of brown and beige adipocyte differentiation by EBF2	1	126.9×	0.020	PRDM16
Glycosaminoglycan metabolism	1	73.2×	0.029	SLC9A1
PKMTs methylate histone lysines	1	53.6×	0.033	PRDM16
R-HSA-425393	1	43.3×	0.033	SLC9A1
Metabolism of carbohydrates and carbohydrate derivatives	1	40.1×	0.033	SLC9A1
Degradation of the extracellular matrix	1	39.2×	0.033	NID1
SLC-mediated transmembrane transport	1	19.7×	0.059	SLC9A1
Transport of small molecules	1	8.4×	0.124	SLC9A1
Metabolism	1	3.9×	0.237	SLC9A1

GO biological processes 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.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of calcineurin-NFAT signaling cascade	2	267.5×	0.002	CAMTA1, SLC9A1
positive regulation of mitochondrial membrane permeability	1	1404.3×	0.012	SLC9A1
regulation of the force of heart contraction by cardiac conduction	1	1404.3×	0.012	SLC9A1
negative regulation of white fat cell differentiation	1	1404.3×	0.012	PRDM16
beige fat cell differentiation	1	936.2×	0.013	PRDM16
tolerance induction in gut-associated lymphoid tissue	1	702.2×	0.013	PRDM16
positive regulation of the force of heart contraction	1	561.7×	0.013	SLC9A1
regulation of cellular respiration	1	468.1×	0.013	PRDM16
regulation of basement membrane organization	1	468.1×	0.013	NID1
maintenance of cell polarity	1	401.2×	0.013	SLC9A1
cellular response to antibiotic	1	401.2×	0.013	SLC9A1
regulation of cardiac muscle cell membrane potential	1	401.2×	0.013	SLC9A1
negative regulation of granulocyte differentiation	1	351.1×	0.013	PRDM16
regulatory T cell differentiation	1	351.1×	0.013	PRDM16
positive regulation of action potential	1	351.1×	0.013	SLC9A1
negative regulation of muscle cell differentiation	1	280.9×	0.013	PRDM16
cardiac muscle cell contraction	1	280.9×	0.013	SLC9A1
glomerular basement membrane development	1	255.3×	0.013	NID1
regulation of pH	1	234.1×	0.013	SLC9A1
response to acidic pH	1	216.1×	0.013	SLC9A1
regulation of cardiac muscle contraction by calcium ion signaling	1	216.1×	0.013	SLC9A1
heterochromatin organization	1	216.1×	0.013	PRDM16
cellular response to electrical stimulus	1	216.1×	0.013	SLC9A1
cellular response to epinephrine stimulus	1	216.1×	0.013	SLC9A1
positive regulation of integrin-mediated signaling pathway	1	216.1×	0.013	NID1
positive regulation of muscle cell differentiation	1	187.2×	0.013	NID1
cardiac muscle hypertrophy in response to stress	1	175.5×	0.013	CAMTA2
sodium ion export across plasma membrane	1	175.5×	0.013	SLC9A1
cellular response to cold	1	175.5×	0.013	SLC9A1
hyaluronan catabolic process	1	165.2×	0.013	SLC9A1

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 6

Druggability breadth: 2 of 7 evidence-associated genes (29%) 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
SLC9A1	AMILORIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
SLC9A1	6	4
CAMTA1	0	0
PRDM16	0	0
CAMTA2	0	0
CFAP107	0	0
OBI1-AS1	0	0
NID1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
AMILORIDE	4	SLC9A1
SABIPORIDE	2	SLC9A1
RIMEPORIDE	2	SLC9A1
ZONIPORIDE	2	SLC9A1
CARIPORIDE	2	SLC9A1
ENIPORIDE	2	SLC9A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
SLC9A1	36	Binding:28, Functional:7, ADMET:1
PRDM16	2	Binding:2

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PRDM16	2.1.1.367, 2.1.1.370	[histone H3]-lysine9 N-methyltransferase, [histone H3]-lysine4 N-dimethyltransferase

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

6 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)
AMILORIDE	4	SLC9A1
SABIPORIDE	2	SLC9A1
RIMEPORIDE	2	SLC9A1
ZONIPORIDE	2	SLC9A1
CARIPORIDE	2	SLC9A1
ENIPORIDE	2	SLC9A1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	SLC9A1
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	CAMTA1
D	Druggable family + AlphaFold only, no drug	1	CAMTA2
E	Difficult family or no structure, no drug	4	PRDM16, CFAP107, OBI1-AS1, NID1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CAMTA1	0	—
PRDM16	2	—
CAMTA2	0	—
CFAP107	0	—
OBI1-AS1	0	—
NID1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.