Hemiplegia
diseaseOn this page
Summary
Hemiplegia (MONDO:0001170) is a disease with 5 cohort genes (2 GWAS associations across 13 studies) and 222 clinical trials. The dominant Reactome pathway is Muscle contraction (4 cohort genes).
At a glance
- Cohort genes: 5
- GWAS associations: 2
- ClinVar variants: 8
- Clinical trials: 222
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | hemiplegia |
| Mondo ID | MONDO:0001170 |
| EFO | EFO:0009453 |
| MeSH | D006429 |
| DOID | DOID:10969 |
| ICD-11 | 1641958762 |
| SNOMED CT | 1593000 |
| UMLS | C0018991 |
| MedGen | 9196 |
| Is cancer (heuristic) | no |
Data availability: 8 ClinVar variants · 2 GWAS associations (13 studies).
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › palsy › hemiplegia
Related subtypes (9): quadriplegia, facial paralysis, ophthalmoplegia, paraplegia, cerebral palsy, progressive bulbar palsy, klumpke’s paralysis, respiratory paralysis, Erb palsy
Subtypes (1): alternating hemiplegia of childhood
Genetics & variants
GWAS landscape
2 GWAS associations across 13 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs186664432 | 4e-12 | TLK1 - METTL8 | G | 2.34 |
| rs137951129 | 5e-09 | DPP6 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473361 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 4,617 | 453,823 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477545 | Verma A | 2024 | 2,372 | 445,320 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90079854 | Backman JD | 2021 | 2,070 | 385,551 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083840 | Backman JD | 2021 | 2,070 | 385,551 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079853 | Backman JD | 2021 | 2,024 | 385,757 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083839 | Backman JD | 2021 | 2,024 | 385,757 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90435923 | Zhou W | 2018 | 1,500 | 395,209 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477544 | Verma A | 2024 | 1,135 | 119,261 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480018 | Verma A | 2024 | 1,135 | 119,261 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651396 | Liu TY | 2025 | 550 | 218,635 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intergenic_variant | 1 |
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs186664432 | 2 | 171303214 | G>A | 0 | intergenic_variant | TLK1 - METTL8 | 4e-12 | Tier 4: intronic/intergenic |
| rs137951129 | 7 | 154373184 | T>C | intron_variant | DPP6 | 5e-09 | Tier 4: intronic/intergenic |
ClinVar germline variants
8 retrieved; paginated sample, class counts are floors:
3 conflicting classifications of pathogenicity, 2 pathogenic, 1 likely pathogenic, 1 pathogenic/likely pathogenic, 1 uncertain significance
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 37108 | NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) | ATP1A3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 37110 | NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) | ATP1A3 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 523558 | NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) | ATP1A3 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4813501 | NM_000702.4(ATP1A2):c.3022del (p.Arg1008fs) | ATP1A2 | Likely pathogenic | no assertion criteria provided |
| 44926 | NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) | DSP | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 14149 | NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 239175 | NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) | MYH6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 9387 | NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) | SCN5A | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 29 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SCN5A | Orphanet:101016 | Romano-Ward syndrome |
| SCN5A | Orphanet:130 | Brugada syndrome |
| SCN5A | Orphanet:1344 | Isolated atrial standstill |
| SCN5A | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| SCN5A | Orphanet:166282 | Hereditary sick sinus syndrome |
| SCN5A | Orphanet:228140 | Idiopathic ventricular fibrillation |
| SCN5A | Orphanet:334 | Hereditary atrial fibrillation |
| SCN5A | Orphanet:871 | Hereditary progressive cardiac conduction defect |
| DSP | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| DSP | Orphanet:158687 | Lethal acantholytic erosive disorder |
| DSP | Orphanet:2032 | Idiopathic pulmonary fibrosis |
| DSP | Orphanet:293165 | Skin fragility-woolly hair-palmoplantar keratoderma syndrome |
| DSP | Orphanet:293888 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant |
| DSP | Orphanet:293899 | Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant |
| DSP | Orphanet:293910 | Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant |
| DSP | Orphanet:369992 | Severe dermatitis-multiple allergies-metabolic wasting syndrome |
| DSP | Orphanet:476096 | Erythrokeratodermia-cardiomyopathy syndrome |
| DSP | Orphanet:50942 | Striate palmoplantar keratoderma |
| DSP | Orphanet:65282 | Carvajal syndrome |
| MYH6 | Orphanet:154 | Familial isolated dilated cardiomyopathy |
| MYH6 | Orphanet:166282 | Hereditary sick sinus syndrome |
| MYH6 | Orphanet:99103 | Atrial septal defect, ostium secundum type |
| ATP1A2 | Orphanet:2131 | Alternating hemiplegia of childhood |
| ATP1A2 | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
| ATP1A2 | Orphanet:569 | Familial or sporadic hemiplegic migraine |
| ATP1A3 | Orphanet:1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| ATP1A3 | Orphanet:2131 | Alternating hemiplegia of childhood |
| ATP1A3 | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
| ATP1A3 | Orphanet:71517 | Rapid-onset dystonia-parkinsonism |
Cohort genes → proteins
5 cohort genes, 5 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 5 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| SCN5A | HGNC:10593 | ENSG00000183873 | Q14524 | Sodium channel protein type 5 subunit alpha | clinvar |
| DSP | HGNC:3052 | ENSG00000096696 | P15924 | Desmoplakin | clinvar |
| MYH6 | HGNC:7576 | ENSG00000197616 | P13533 | Myosin-6 | clinvar |
| ATP1A2 | HGNC:800 | ENSG00000018625 | P50993 | Sodium/potassium-transporting ATPase subunit alpha-2 | clinvar |
| ATP1A3 | HGNC:801 | ENSG00000105409 | P13637 | Sodium/potassium-transporting ATPase subunit alpha-3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SCN5A | Sodium channel protein type 5 subunit alpha | Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. |
| DSP | Desmoplakin | A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion. |
| MYH6 | Myosin-6 | Muscle contraction. |
| ATP1A2 | Sodium/potassium-transporting ATPase subunit alpha-2 | 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. |
| ATP1A3 | Sodium/potassium-transporting ATPase subunit alpha-3 | 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: 1 · Difficult: 4 · Unknown: 0 · Druggable fraction: 0.2
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 | 22.3× | 0.066 |
| Scaffold/PPI | 2 | 6.9× | 0.066 |
| Transcription factor | 2 | 3.3× | 0.114 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SCN5A | Ion channel | yes | Na_channel_asu, Ion_trans_dom, Na_channel_a5su | |
| DSP | Scaffold/PPI | no | Plectin_repeat, SH3_domain, Spectrin/alpha-actinin | |
| MYH6 | Scaffold/PPI | no | Myosin_head_motor_dom-like, Myosin_tail, SH3_Myosin | |
| ATP1A2 | Transcription factor | no | P_typ_ATPase, ATPase_P-typ_cation-transptr_N, P-type_ATPase_IIC | |
| ATP1A3 | Transcription factor | no | P_typ_ATPase, ATPase_P-typ_cation-transptr_N, P-type_ATPase_IIC |
Expression context
Cohort genes with no expression data: 0.
3 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) | 5 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| apex of heart | 1 |
| cardiac ventricle | 1 |
| heart left ventricle | 1 |
| hair follicle | 1 |
| skin of hip | 1 |
| upper leg skin | 1 |
| cardiac atrium | 1 |
| cardiac muscle of right atrium | 1 |
| vena cava | 1 |
| lateral globus pallidus | 1 |
| superior vestibular nucleus | 1 |
| trigeminal ganglion | 1 |
| cortical plate | 1 |
| primary visual cortex | 1 |
| superior frontal gyrus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SCN5A | 161 | broad | yes | apex of heart, heart left ventricle, cardiac ventricle |
| DSP | 253 | ubiquitous | marker | skin of hip, upper leg skin, hair follicle |
| MYH6 | 154 | tissue_specific | yes | cardiac muscle of right atrium, cardiac atrium, vena cava |
| ATP1A2 | 262 | broad | marker | lateral globus pallidus, trigeminal ganglion, superior vestibular nucleus |
| ATP1A3 | 129 | broad | marker | superior frontal gyrus, primary visual cortex, cortical plate |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| ATP1A3 | 3,876 |
| MYH6 | 3,119 |
| DSP | 2,897 |
| ATP1A2 | 2,679 |
| SCN5A | 2,090 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| ATP1A2 | ATP1A3 | intact, string_interaction |
Structural data
PDB: 3 · AlphaFold-only: 2 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| SCN5A | Q14524 | 16 |
| ATP1A3 | P13637 | 5 |
| DSP | P15924 | 4 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| ATP1A2 | P50993 | 88.25 |
| MYH6 | P13533 | 74.91 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 24. Enrichment computed across 5 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Muscle contraction | 4 | 61.7× | 3e-06 | SCN5A, MYH6, ATP1A2, ATP1A3 |
| Cardiac conduction | 3 | 65.3× | 9e-05 | SCN5A, ATP1A2, ATP1A3 |
| Ion transport by P-type ATPases | 2 | 83.0× | 0.001 | ATP1A2, ATP1A3 |
| Ion homeostasis | 2 | 81.6× | 0.001 | ATP1A2, ATP1A3 |
| Potential therapeutics for SARS | 2 | 45.7× | 0.004 | ATP1A2, ATP1A3 |
| Ion channel transport | 2 | 38.4× | 0.004 | ATP1A2, ATP1A3 |
| SARS-CoV Infections | 2 | 22.2× | 0.011 | ATP1A2, ATP1A3 |
| Apoptotic cleavage of cell adhesion proteins | 1 | 207.6× | 0.014 | DSP |
| Viral Infection Pathways | 2 | 12.3× | 0.026 | ATP1A2, ATP1A3 |
| Interaction between L1 and Ankyrins | 1 | 73.7× | 0.028 | SCN5A |
| Phase 0 - rapid depolarisation | 1 | 69.2× | 0.028 | SCN5A |
| Transport of small molecules | 2 | 10.1× | 0.028 | ATP1A2, ATP1A3 |
| Infectious disease | 2 | 9.9× | 0.028 | ATP1A2, ATP1A3 |
| Striated Muscle Contraction | 1 | 61.7× | 0.028 | MYH6 |
| RND1 GTPase cycle | 1 | 53.1× | 0.029 | DSP |
| RND3 GTPase cycle | 1 | 51.9× | 0.029 | DSP |
| L1CAM interactions | 1 | 24.0× | 0.058 | SCN5A |
| Disease | 2 | 5.2× | 0.067 | ATP1A2, ATP1A3 |
| Formation of the cornified envelope | 1 | 17.6× | 0.070 | DSP |
| Keratinization | 1 | 11.1× | 0.104 | DSP |
| Axon guidance | 1 | 9.0× | 0.121 | SCN5A |
| Nervous system development | 1 | 8.6× | 0.121 | SCN5A |
| Neutrophil degranulation | 1 | 4.6× | 0.207 | DSP |
| Developmental Biology | 1 | 2.9× | 0.301 | SCN5A |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| cardiac muscle contraction | 3 | 240.7× | 2e-05 | SCN5A, MYH6, ATP1A2 |
| response to glycoside | 2 | 963.0× | 8e-05 | ATP1A2, ATP1A3 |
| membrane depolarization during cardiac muscle cell action potential | 2 | 561.7× | 1e-04 | SCN5A, ATP1A2 |
| cell communication by electrical coupling involved in cardiac conduction | 2 | 561.7× | 1e-04 | ATP1A2, ATP1A3 |
| regulation of cardiac muscle cell contraction | 2 | 449.4× | 1e-04 | SCN5A, ATP1A2 |
| sodium ion export across plasma membrane | 2 | 421.3× | 1e-04 | ATP1A2, ATP1A3 |
| cellular response to steroid hormone stimulus | 2 | 421.3× | 1e-04 | ATP1A2, ATP1A3 |
| regulation of the force of heart contraction | 2 | 396.5× | 1e-04 | MYH6, ATP1A2 |
| intracellular potassium ion homeostasis | 2 | 396.5× | 1e-04 | ATP1A2, ATP1A3 |
| intracellular sodium ion homeostasis | 2 | 306.4× | 2e-04 | ATP1A2, ATP1A3 |
| regulation of heart rate | 2 | 187.2× | 4e-04 | SCN5A, MYH6 |
| ATP metabolic process | 2 | 187.2× | 4e-04 | MYH6, ATP1A2 |
| regulation of heart rate by cardiac conduction | 2 | 149.8× | 6e-04 | SCN5A, DSP |
| potassium ion import across plasma membrane | 2 | 146.5× | 6e-04 | ATP1A2, ATP1A3 |
| proton transmembrane transport | 2 | 124.8× | 8e-04 | ATP1A2, ATP1A3 |
| sodium ion transport | 2 | 108.7× | 9e-04 | SCN5A, ATP1A2 |
| regulation of blood pressure | 2 | 88.7× | 0.001 | MYH6, ATP1A2 |
| sodium ion transmembrane transport | 2 | 81.2× | 0.001 | SCN5A, ATP1A2 |
| visceral muscle development | 1 | 3370.4× | 0.002 | MYH6 |
| olfactory cortex development | 1 | 3370.4× | 0.002 | ATP1A2 |
| regulation of glutamate uptake involved in transmission of nerve impulse | 1 | 1685.2× | 0.003 | ATP1A2 |
| regulation of heart growth | 1 | 1685.2× | 0.003 | MYH6 |
| bundle of His cell action potential | 1 | 1685.2× | 0.003 | SCN5A |
| AV node cell to bundle of His cell communication | 1 | 1685.2× | 0.003 | SCN5A |
| negative regulation of calcium ion transmembrane transport | 1 | 1685.2× | 0.003 | ATP1A2 |
| negative regulation of striated muscle contraction | 1 | 1123.5× | 0.003 | ATP1A2 |
| membrane depolarization during Purkinje myocyte cell action potential | 1 | 1123.5× | 0.003 | SCN5A |
| membrane depolarization during bundle of His cell action potential | 1 | 1123.5× | 0.003 | SCN5A |
| membrane depolarization during atrial cardiac muscle cell action potential | 1 | 1123.5× | 0.003 | SCN5A |
| negative regulation of heart contraction | 1 | 842.6× | 0.004 | ATP1A2 |
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Onabotulinumtoxina | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Triheptanoin.
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 2
Druggability breadth: 5 of 5 evidence-associated genes (100%) 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 |
|---|---|
| SCN5A | BEPRIDIL |
| ATP1A2 | OMEPRAZOLE |
| ATP1A3 | OMEPRAZOLE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SCN5A | 108 | 4 |
| ATP1A2 | 5 | 4 |
| ATP1A3 | 5 | 4 |
| DSP | 0 | 0 |
| MYH6 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| BEPRIDIL | 4 | SCN5A |
| CANDESARTAN CILEXETIL | 4 | SCN5A |
| TELMISARTAN | 4 | SCN5A |
| CARBAMAZEPINE | 4 | SCN5A |
| DIBUCAINE | 4 | SCN5A |
| IMIPRAMINE | 4 | SCN5A |
| DROPERIDOL | 4 | SCN5A |
| PONATINIB | 4 | SCN5A |
| DULOXETINE | 4 | SCN5A |
| PALONOSETRON | 4 | SCN5A |
| VILANTEROL | 4 | SCN5A |
| MEXILETINE HYDROCHLORIDE | 4 | SCN5A |
| UNOPROSTONE ISOPROPYL | 4 | SCN5A |
| LURASIDONE | 4 | SCN5A |
| LETERMOVIR | 4 | SCN5A |
| SERTINDOLE | 4 | SCN5A |
| FEDRATINIB | 4 | SCN5A |
| QUINIDINE | 4 | SCN5A |
| DARUNAVIR | 4 | SCN5A |
| DARIFENACIN | 4 | SCN5A |
| BENZONATATE | 4 | SCN5A |
| TOLTERODINE | 4 | SCN5A |
| RANOLAZINE | 4 | SCN5A |
| PIMOZIDE | 4 | SCN5A |
| NIMODIPINE | 4 | SCN5A |
| FELODIPINE | 4 | SCN5A |
| NICARDIPINE | 4 | SCN5A |
| AMLODIPINE | 4 | SCN5A |
| PHENYTOIN | 4 | SCN5A |
| PALIPERIDONE | 4 | SCN5A |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| SCN5A | 594 | Binding:380, Functional:98, ADMET:72, Toxicity:43, Unclassified:1 |
| ATP1A2 | 49 | Binding:49 |
| ATP1A3 | 45 | Binding:45 |
| DSP | 2 | Binding:2 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| SCN5A | 594 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 5; 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 | SCN5A |
| CANDESARTAN CILEXETIL | 4 | SCN5A |
| TELMISARTAN | 4 | SCN5A |
| CARBAMAZEPINE | 4 | SCN5A |
| DIBUCAINE | 4 | SCN5A |
| IMIPRAMINE | 4 | SCN5A |
| DROPERIDOL | 4 | SCN5A |
| PONATINIB | 4 | SCN5A |
| DULOXETINE | 4 | SCN5A |
| PALONOSETRON | 4 | SCN5A |
| VILANTEROL | 4 | SCN5A |
| MEXILETINE HYDROCHLORIDE | 4 | SCN5A |
| UNOPROSTONE ISOPROPYL | 4 | SCN5A |
| LURASIDONE | 4 | SCN5A |
| LETERMOVIR | 4 | SCN5A |
| SERTINDOLE | 4 | SCN5A |
| FEDRATINIB | 4 | SCN5A |
| QUINIDINE | 4 | SCN5A |
| DARUNAVIR | 4 | SCN5A |
| DARIFENACIN | 4 | SCN5A |
| BENZONATATE | 4 | SCN5A |
| TOLTERODINE | 4 | SCN5A |
| RANOLAZINE | 4 | SCN5A |
| PIMOZIDE | 4 | SCN5A |
| NIMODIPINE | 4 | SCN5A |
| FELODIPINE | 4 | SCN5A |
| NICARDIPINE | 4 | SCN5A |
| AMLODIPINE | 4 | SCN5A |
| PHENYTOIN | 4 | SCN5A |
| PALIPERIDONE | 4 | SCN5A |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | SCN5A, ATP1A2, ATP1A3 |
| 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 | 2 | DSP, MYH6 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| DSP | 2 | — |
| MYH6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 222.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 204 |
| PHASE3 | 5 |
| PHASE1/PHASE2 | 5 |
| PHASE2 | 2 |
| PHASE1 | 2 |
| EARLY_PHASE1 | 2 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05260125 | PHASE4 | RECRUITING | Comparison of the Efficacy of Ultrasound Guided vs Non-guided Suprascapular Nerve Block Treatment in Stroke Patients |
| NCT00223808 | PHASE3 | COMPLETED | Assisted Movement Neuro-rehabilitation: VA Multi-site Clinical Trial |
| NCT00276185 | PHASE3 | UNKNOWN | HEMITOX : Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke |
| NCT00632528 | PHASE3 | COMPLETED | MEOPA to Improve Physical Therapy Results After Multilevel Surgery |
| NCT01311271 | PHASE2/PHASE3 | TERMINATED | Effects of the Quantity of Repetitive Transcranial Magnetic Stimulation(rTMS) on the Recovery After Stroke |
| NCT01799304 | PHASE3 | COMPLETED | Static and Dynamic Postural Stability in Cerebral Palsy Children |
| NCT03555825 | PHASE3 | COMPLETED | Burke-Hocoma Efficiency Study |
| NCT00369668 | PHASE2 | COMPLETED | Post Stroke Hand Functions: Bilateral Movements and Electrical Stimulation Treatments |
| NCT00523523 | PHASE1/PHASE2 | COMPLETED | Training the Arm and Hand After Stroke Using Auditory Rhythm Cues |
| NCT00565045 | PHASE1/PHASE2 | COMPLETED | Treatments for Recovery of Hand Function in Acute Stroke Survivors |
| NCT01006772 | PHASE1/PHASE2 | UNKNOWN | Rehabilitation of Early Stroke Patients Using an AFO: an RCT |
| NCT01010607 | PHASE1/PHASE2 | UNKNOWN | Use of Tendon Vibration and Mirror for the Improvement of Upper Limb Function and Pain Reduction |
| NCT01569386 | PHASE2 | COMPLETED | Low Intensity Physical Activity Leads to Improvement in Brachial-ankle Pulse Wave Velocity of Hemiplegics |
| NCT01700777 | PHASE1/PHASE2 | UNKNOWN | Bimanual Training in Children With Hemiplegia With Lower Limb and Postural Stimulation (HABIT & Leg) |
| NCT01072461 | PHASE1 | COMPLETED | Optimizing Hand Rehabilitation Post-Stroke Using Interactive Virtual Environments |
| NCT01308216 | PHASE1 | TERMINATED | Transcranial Laser Therapy in the Rehabilitation of Hemiplegic Patients From Ischemic Stroke |
| NCT01827436 | EARLY_PHASE1 | COMPLETED | Asymmetrical Gait Training After Pediatric Stroke |
| NCT05101707 | EARLY_PHASE1 | COMPLETED | CIMT and taVNS for Hemiplegia in Infants |
| NCT03870672 | Not specified | RECRUITING | rTMS Plus CCFES-mediated Functional Task Practice for Severe Stroke |
| NCT04564495 | Not specified | ACTIVE_NOT_RECRUITING | Home Based Tele-exercise for People With Chronic Neurological Impairments |
| NCT04625127 | Not specified | ACTIVE_NOT_RECRUITING | GaitBetter: Motor and Cognitive Training for Gait Rehabilitation and Falls Prevention in Stroke Survivors. |
| NCT04888416 | Not specified | ACTIVE_NOT_RECRUITING | Implementing Outcome Measures in Stroke Rehabilitation |
| NCT05740540 | Not specified | RECRUITING | Implant for Walking After Stroke |
| NCT05828797 | Not specified | RECRUITING | Elastography in Patients With Hemiplegia |
| NCT05866003 | Not specified | RECRUITING | tDCS + CCFES-mediated Functional Task Practice for Post-stroke Upper Extremity Hemiplegia |
| NCT06121947 | Not specified | NOT_YET_RECRUITING | Safety and Efficacy Study of Implantable Neuromodulation for Poststroke Hemiplegia |
| NCT06242366 | Not specified | RECRUITING | Transitional Care Program in Stroke Patients With Hemiplegia. |
| NCT06314776 | Not specified | RECRUITING | Whole-Body Vibration Therapy in the Gait of Children With Cerebral Palsy |
| NCT06329765 | Not specified | RECRUITING | CUped: An Approach to Motor Recovery Post-Stroke, Not Compensation |
| NCT06557681 | Not specified | ACTIVE_NOT_RECRUITING | The Effect of Virtual Reality Treadmill-Based Gait Training on Gait and Balance Ability in Chronic Stroke Patients |
| NCT06579027 | Not specified | RECRUITING | A Novel Program Using Ride-on Toys to Improve Upper Extremity Function in Children With Hemiplegia |
| NCT06690073 | Not specified | RECRUITING | The Effect of Motor Relearning Program on Functional Mobility in Stroke Rehabilitation. |
| NCT06692569 | Not specified | RECRUITING | The Effect of Modified Constraint Induced Movement Therapy on Upper Extremity Function in Stroke Rehabilitation |
| NCT06692829 | Not specified | NOT_YET_RECRUITING | Robot-Assisted Therapy in Chronic Stroke Patients |
| NCT06698380 | Not specified | RECRUITING | The Effect of Mirror Therapy on Upper Extremity Motor Function in Stroke Rehabilitation |
| NCT06706063 | Not specified | ACTIVE_NOT_RECRUITING | Ultrasonograpy in Hemiplegic Patients |
| NCT06709222 | Not specified | NOT_YET_RECRUITING | Robotic Rehabilitation and Dual-Task Exercises in Hemiplegic Patients |
| NCT06729190 | Not specified | RECRUITING | Effect of Biofeedback and Functional Electrical Stimulation in Children |
| NCT06782464 | Not specified | RECRUITING | Upper Limb Nerve Cryoneurolysis is Non Inferior to the Usual Care and Has Therapeutic Add Value in Dealing With Shoulder Pain and Functional Problems Caused by Spasticity and Motor Impairment |
| NCT06793800 | Not specified | RECRUITING | Effect of Transcutaneous Auricular Vagus Nerve Stimulation Application on Respiratory Functions in Stroke Patients |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CHEMBL443232 | 0 | 1 |