Charcot-Marie-tooth disease, axonal, type 2DD

Summary

Charcot-Marie-tooth disease, axonal, type 2DD (MONDO:0054833) is a disease caused by ATP1A1 (GenCC Strong), with 2 cohort genes.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: ATP1A1 (GenCC Strong)
• Cohort genes: 2
• ClinVar variants: 38

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		51	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	Charcot-Marie-tooth disease, axonal, type 2DD
Mondo ID	MONDO:0054833
OMIM	618036
Orphanet	521414
DOID	DOID:0111558
UMLS	C4747974
MedGen	1648475
GARD	0017959
Is cancer (heuristic)	no

Also known as: CMT2DD

Data availability: 38 ClinVar variants · 6 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 › Charcot-Marie-tooth disease, axonal, type 2DD

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, autosomal dominant polycystic kidney disease, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid 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

38 retrieved; paginated sample, class counts are floors:

12 benign, 10 uncertain significance, 7 likely pathogenic, 3 conflicting classifications of pathogenicity, 2 pathogenic/likely pathogenic, 2 pathogenic, 1 likely benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1299690	NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg)	ATP1A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
545677	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1	Pathogenic	criteria provided, multiple submitters, no conflicts
545678	NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	ATP1A1	Pathogenic	criteria provided, multiple submitters, no conflicts
545680	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1029934	NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)	ATP1A1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
1174506	NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly)	ATP1A1	Likely pathogenic	no assertion criteria provided
1685248	NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)	ATP1A1	Likely pathogenic	criteria provided, single submitter
3337828	NM_000701.8(ATP1A1):c.1028G>A (p.Cys343Tyr)	ATP1A1	Likely pathogenic	criteria provided, single submitter
3572864	NM_000701.8(ATP1A1):c.620C>T (p.Ser207Phe)	ATP1A1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
545679	NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	ATP1A1	Likely pathogenic	criteria provided, single submitter
995868	NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs)	ATP1A1	Likely pathogenic	criteria provided, single submitter
1704508	NM_000701.8(ATP1A1):c.12+3G>T	ATP1A1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2431048	NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)	ATP1A1	Conflicting classifications of pathogenicity	no assertion criteria provided
545681	NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala)	ATP1A1	Conflicting classifications of pathogenicity	no assertion criteria provided
1699367	NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr)	ATP1A1	Uncertain significance	criteria provided, single submitter
1941986	NM_000701.8(ATP1A1):c.1939C>T (p.Arg647Cys)	ATP1A1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2665056	NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln)	ATP1A1	Uncertain significance	criteria provided, single submitter
2671759	NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys)	ATP1A1	Uncertain significance	criteria provided, single submitter
2986874	NM_000701.8(ATP1A1):c.1538G>A (p.Arg513Lys)	ATP1A1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2995966	NM_000701.8(ATP1A1):c.676A>C (p.Thr226Pro)	ATP1A1	Uncertain significance	criteria provided, multiple submitters, no conflicts
3066218	NM_000701.8(ATP1A1):c.1888G>C (p.Gly630Arg)	ATP1A1	Uncertain significance	criteria provided, single submitter
3255528	NM_000701.8(ATP1A1):c.490A>T (p.Met164Leu)	ATP1A1	Uncertain significance	criteria provided, single submitter
3896782	NM_000701.8(ATP1A1):c.65A>G (p.Lys22Arg)	ATP1A1	Uncertain significance	criteria provided, single submitter
1687417	NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile)	ATP1A1-AS1	Uncertain significance	criteria provided, single submitter
1181423	NM_000701.8(ATP1A1):c.3043+38T>C	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts
1225564	NM_000701.8(ATP1A1):c.2952-37C>T	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts
1227676	NM_000701.8(ATP1A1):c.1024-100T>G	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts
1261446	NM_000701.8(ATP1A1):c.1223-32G>A	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts
1267145	NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=)	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts
1274903	NM_000701.8(ATP1A1):c.3043+8T>C	ATP1A1	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 2 · 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
ATP1A1	Strong	Autosomal dominant	Charcot-Marie-tooth disease, axonal, type 2DD	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ATP1A1	Orphanet:521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD
ATP1A1	Orphanet:564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ATP1A1	HGNC:799	ENSG00000163399	P05023	Sodium/potassium-transporting ATPase subunit alpha-1	gencc,clinvar
ATP1A1-AS1	HGNC:28262	ENSG00000203865	Q5TC04	Putative uncharacterized protein ATP1A1-AS1	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ATP1A1	Sodium/potassium-transporting ATPase subunit alpha-1	This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 1 · 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	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ATP1A1	Transcription factor	no	7.2.2.3	P_typ_ATPase, ATPase_P-typ_cation-transptr_N, P-type_ATPase_IIC
ATP1A1-AS1	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
left lobe of thyroid gland	2
right lobe of thyroid gland	2
renal medulla	1
tendon of biceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ATP1A1	305	ubiquitous	marker	renal medulla, right lobe of thyroid gland, left lobe of thyroid gland
ATP1A1-AS1	178	ubiquitous	marker	tendon of biceps brachii, left lobe of thyroid gland, right lobe of thyroid gland

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ATP1A1	3,520
ATP1A1-AS1	0

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ATP1A1	P05023	13

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ATP1A1-AS1	Q5TC04	65.72

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 2 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Ion transport by P-type ATPases	1	207.6×	0.023	ATP1A1
Ion homeostasis	1	203.9×	0.023	ATP1A1
Potential therapeutics for SARS	1	114.2×	0.023	ATP1A1
Cardiac conduction	1	108.8×	0.023	ATP1A1
Ion channel transport	1	96.0×	0.023	ATP1A1
Muscle contraction	1	77.2×	0.024	ATP1A1
SARS-CoV Infections	1	55.4×	0.028	ATP1A1
Viral Infection Pathways	1	30.8×	0.044	ATP1A1
Transport of small molecules	1	25.1×	0.044	ATP1A1
Infectious disease	1	24.8×	0.044	ATP1A1
Disease	1	13.1×	0.076	ATP1A1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 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 glucocorticoid biosynthetic process	1	16852.0×	0.001	ATP1A1
positive regulation of striated muscle contraction	1	8426.0×	0.001	ATP1A1
negative regulation of heart contraction	1	4213.0×	0.002	ATP1A1
establishment or maintenance of transmembrane electrochemical gradient	1	2808.7×	0.002	ATP1A1
response to glycoside	1	2407.4×	0.002	ATP1A1
positive regulation of heart contraction	1	2106.5×	0.002	ATP1A1
membrane repolarization during cardiac muscle cell action potential	1	1685.2×	0.002	ATP1A1
osmosensory signaling pathway	1	1532.0×	0.002	ATP1A1
cell communication by electrical coupling involved in cardiac conduction	1	1404.3×	0.002	ATP1A1
relaxation of cardiac muscle	1	1296.3×	0.002	ATP1A1
membrane repolarization	1	1296.3×	0.002	ATP1A1
sodium ion export across plasma membrane	1	1053.2×	0.002	ATP1A1
cellular response to steroid hormone stimulus	1	1053.2×	0.002	ATP1A1
regulation of the force of heart contraction	1	991.3×	0.002	ATP1A1
intracellular potassium ion homeostasis	1	991.3×	0.002	ATP1A1
regulation of sodium ion transport	1	936.2×	0.002	ATP1A1
intracellular sodium ion homeostasis	1	766.0×	0.002	ATP1A1
cardiac muscle cell action potential involved in contraction	1	702.2×	0.002	ATP1A1
potassium ion import across plasma membrane	1	366.4×	0.003	ATP1A1
proton transmembrane transport	1	312.1×	0.004	ATP1A1
regulation of blood pressure	1	221.7×	0.005	ATP1A1
sodium ion transmembrane transport	1	203.0×	0.005	ATP1A1
potassium ion transmembrane transport	1	135.9×	0.008	ATP1A1
response to xenobiotic stimulus	1	69.1×	0.014	ATP1A1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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
ATP1A1	DIGOXIN

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ATP1A1	5	4
ATP1A1-AS1	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DIGOXIN	4	ATP1A1
OMEPRAZOLE	4	ATP1A1
DIGITOXIN	4	ATP1A1
LANSOPRAZOLE	4	ATP1A1
ROSTAFUROXIN	2	ATP1A1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
ATP1A1	50	Binding:50

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ATP1A1	7.2.2.3	P-type Na+ transporter

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

5 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)
DIGOXIN	4	ATP1A1
OMEPRAZOLE	4	ATP1A1
DIGITOXIN	4	ATP1A1
LANSOPRAZOLE	4	ATP1A1
ROSTAFUROXIN	2	ATP1A1

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	ATP1A1
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	1	ATP1A1-AS1

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ATP1A1-AS1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.