SKOR2
geneOn this page
Also known as CORL2FUSSEL18Fussel-18
Summary
SKOR2 (SKI family transcriptional corepressor 2, HGNC:32695) is a protein-coding gene on chromosome 18q21.1, encoding SKI family transcriptional corepressor 2 (Q2VWA4). Exhibits transcriptional repressor activity.
Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus.
Source: NCBI Gene 652991 — RefSeq curated summary.
At a glance
- Gene–disease (curated): nervous system disorder (Limited, GenCC)
- GWAS associations: 9
- Clinical variants (ClinVar): 8 total — 5 pathogenic
- Phenotypes (HPO): 24
- MANE Select transcript:
NM_001278063
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:32695 |
| Approved symbol | SKOR2 |
| Name | SKI family transcriptional corepressor 2 |
| Location | 18q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CORL2, FUSSEL18, Fussel-18 |
| Ensembl gene | ENSG00000215474 |
| Ensembl biotype | protein_coding |
| OMIM | 617138 |
| Entrez | 652991 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000400404, ENST00000425639
RefSeq mRNA: 2 — MANE Select: NM_001278063
NM_001037802, NM_001278063
CCDS: CCDS62441, CCDS74222
Canonical transcript exons
ENST00000425639 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001664783 | 47245498 | 47245561 |
| ENSE00001677627 | 47230935 | 47231000 |
| ENSE00001715448 | 47230459 | 47230557 |
| ENSE00003575001 | 47244908 | 47244982 |
| ENSE00003745534 | 47219943 | 47220010 |
| ENSE00003792160 | 47212086 | 47212151 |
| ENSE00003792439 | 47251374 | 47251660 |
| ENSE00003797622 | 47206169 | 47206892 |
| ENSE00003798699 | 47246571 | 47249230 |
Expression profiles
Bgee: expression breadth broad, 18 present calls, max score 79.07.
Top tissues by expression
127 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.07 | gold quality |
| sural nerve | UBERON:0015488 | 71.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 49.70 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 47.39 | gold quality |
| colonic epithelium | UBERON:0000397 | 44.83 | gold quality |
| bone marrow cell | CL:0002092 | 43.78 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 42.59 | silver quality |
| primary visual cortex | UBERON:0002436 | 41.84 | gold quality |
| cortical plate | UBERON:0005343 | 39.94 | gold quality |
| ganglionic eminence | UBERON:0004023 | 38.78 | gold quality |
| stromal cell of endometrium | CL:0002255 | 38.75 | gold quality |
| leukocyte | CL:0000738 | 38.17 | gold quality |
| monocyte | CL:0000576 | 38.13 | gold quality |
| right testis | UBERON:0004534 | 37.42 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 37.41 | gold quality |
| testis | UBERON:0000473 | 37.19 | gold quality |
| duodenum | UBERON:0002114 | 36.85 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| left testis | UBERON:0004533 | 36.02 | gold quality |
| calcaneal tendon | UBERON:0003701 | 35.79 | gold quality |
| bone marrow | UBERON:0002371 | 35.64 | gold quality |
| liver | UBERON:0002107 | 35.51 | silver quality |
| granulocyte | CL:0000094 | 35.50 | gold quality |
| blood | UBERON:0000178 | 35.39 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 34.03 | gold quality |
| muscle tissue | UBERON:0002385 | 34.02 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 33.83 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 33.13 | gold quality |
| prefrontal cortex | UBERON:0000451 | 32.51 | gold quality |
| lymph node | UBERON:0000029 | 29.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.78 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 2)
- Experiments performed using mice, but the observations maybe relevant to other organisms as well. (PMID:18522874)
- Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9. (PMID:20029986)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | skor2 | ENSDARG00000063614 |
| mus_musculus | Skor2 | ENSMUSG00000091519 |
| rattus_norvegicus | Skor2 | ENSRNOG00000018006 |
Paralogs (3): SKIL (ENSG00000136603), SKI (ENSG00000157933), SKOR1 (ENSG00000188779)
Protein
Protein identifiers
SKI family transcriptional corepressor 2 — Q2VWA4 (reviewed: Q2VWA4)
Alternative names: Functional Smad-suppressing element on chromosome 18, LBX1 corepressor 1-like protein, Ladybird homeobox corepressor 1-like protein
All UniProt accessions (1): Q2VWA4
UniProt curated annotations — full annotation on UniProt →
Function. Exhibits transcriptional repressor activity. Acts as a TGF-beta antagonist in the nervous system.
Subunit / interactions. Interacts with SMAD2 and SMAD3.
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in cerebellum, spinal cord and testis. Isoform 2 is present in cerebellum (at protein level).
Similarity. Belongs to the SKI family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q2VWA4-1 | 1 | yes |
| Q2VWA4-2 | 2 |
RefSeq proteins (2): NP_001032891, NP_001264992* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003380 | SKI/SNO/DAC | Domain |
| IPR009061 | DNA-bd_dom_put_sf | Homologous_superfamily |
| IPR010919 | SAND-like_dom_sf | Homologous_superfamily |
| IPR014890 | c-SKI_SMAD4-bd_dom | Domain |
| IPR023216 | Tscrpt_reg_SKI_SnoN | Family |
| IPR037000 | Ski_DNA-bd_sf | Homologous_superfamily |
Pfam: PF02437, PF08782
UniProt features (19 total): compositionally biased region 13, region of interest 2, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q2VWA4-F1 | 52.95 | 0.13 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 75 (showing top):
GOBP_DENDRITE_DEVELOPMENT, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_REGULATION_OF_DENDRITE_MORPHOGENESIS, GOBP_CEREBELLAR_PURKINJE_CELL_LAYER_FORMATION, GOBP_CEREBELLAR_CORTEX_MORPHOGENESIS, GOBP_NEUROGENESIS, GOBP_NEURAL_PRECURSOR_CELL_PROLIFERATION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_DENDRITE_MORPHOGENESIS
GO Biological Process (13): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), smoothened signaling pathway (GO:0007224), cerebellar Purkinje cell differentiation (GO:0021702), regulation of cerebellar granule cell precursor proliferation (GO:0021936), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of BMP signaling pathway (GO:0030514), positive regulation of smoothened signaling pathway (GO:0045880), cell development (GO:0048468), regulation of dendrite morphogenesis (GO:0048814), regulation of neuroblast proliferation (GO:1902692), cerebellum morphogenesis (GO:0021587), negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), chromatin binding (GO:0003682), histone deacetylase binding (GO:0042826), SMAD binding (GO:0046332), sequence-specific double-stranded DNA binding (GO:1990837)
GO Cellular Component (3): nucleus (GO:0005634), transcription regulator complex (GO:0005667), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| regulation of neural precursor cell proliferation | 2 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cell surface receptor signaling pathway | 1 |
| cell differentiation in hindbrain | 1 |
| cerebellar Purkinje cell layer formation | 1 |
| central nervous system neuron differentiation | 1 |
| cerebellar granule cell precursor proliferation | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| BMP signaling pathway | 1 |
| regulation of BMP signaling pathway | 1 |
| negative regulation of cellular response to growth factor stimulus | 1 |
| smoothened signaling pathway | 1 |
| regulation of smoothened signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| cell differentiation | 1 |
| anatomical structure development | 1 |
| cellular developmental process | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| dendrite morphogenesis | 1 |
| regulation of dendrite development | 1 |
| neuroblast proliferation | 1 |
| anatomical structure morphogenesis | 1 |
| cerebellum development | 1 |
| hindbrain morphogenesis | 1 |
| cell surface receptor protein serine/threonine kinase signaling pathway | 1 |
| negative regulation of signal transduction | 1 |
| regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| binding | 1 |
| enzyme binding | 1 |
Protein interactions and networks
STRING
640 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SKOR2 | LOXHD1 | Q8IVV2 | 591 |
| SKOR2 | KIRREL2 | Q6UWL6 | 536 |
| SKOR2 | TMC2 | Q8TDI7 | 490 |
| SKOR2 | ARK2C | Q6ZSG1 | 466 |
| SKOR2 | MYO3A | Q8NEV4 | 457 |
| SKOR2 | PTF1A | Q7RTS3 | 449 |
| SKOR2 | UBXN11 | Q5T124 | 443 |
| SKOR2 | LHX5 | Q9H2C1 | 419 |
| SKOR2 | SLC5A8 | Q8N695 | 417 |
| SKOR2 | TNNC2 | P02585 | 414 |
| SKOR2 | CAB39L | Q9H9S4 | 406 |
| SKOR2 | HDHD2 | Q9H0R4 | 404 |
| SKOR2 | IRX1 | P78414 | 396 |
| SKOR2 | TATDN3 | Q17R31 | 393 |
| SKOR2 | SEPTIN9 | Q9UHD8 | 391 |
IntAct
0 interactions, top by confidence:
BioGRID (2): SKOR2 (Affinity Capture-MS), SKOR2 (Affinity Capture-MS)
ESM2 similar proteins: A2A9A2, A6QQ94, A6YP92, A7MB54, B5RHS5, E9PZZ1, M0R6D8, O02786, O08934, O09029, O35085, P13297, P28360, P46153, P50548, P78413, P78414, P78415, P81067, P81068, P84550, P97830, Q12952, Q13207, Q14549, Q14774, Q2VL76, Q2VL77, Q2VL78, Q2VL79, Q2VL80, Q2VL82, Q2VL83, Q2VL84, Q2VL85, Q2VL86, Q2VL87, Q2VL88, Q2VWA4, Q5SQQ9
Diamond homologs: A7M7C7, P12755, P12757, P17863, P49140, P84550, P84551, Q02225, Q1LXZ9, Q2VWA4, Q5R431, Q60665, Q60698, Q8BX46, Q9TUG2, Q925Q8, Q96NX9, H2KY91, Q9QYB2, Q9UI36
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
8 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3255369 | NM_001278063.4(SKOR2):c.374G>C (p.Arg125Pro) | Pathogenic |
| 3602131 | NM_001278063.4(SKOR2):c.1271_1274del (p.Lys424fs) | Pathogenic |
| 4526337 | NM_001278063.4(SKOR2):c.2750C>G (p.Ser917Ter) | Pathogenic |
| 4526338 | R125P | Pathogenic |
| 4526339 | SKOR2, 4-BP DEL, NT1271 | Pathogenic |
SpliceAI
413 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:47245560:CT:C | acceptor_gain | 0.9800 |
| 18:47246570:CAT:C | donor_gain | 0.9700 |
| 18:47246719:T:TA | donor_gain | 0.9600 |
| 18:47245564:G:C | acceptor_gain | 0.9500 |
| 18:47248225:T:TA | donor_gain | 0.9500 |
| 18:47245562:C:CC | acceptor_gain | 0.9400 |
| 18:47245566:G:C | acceptor_gain | 0.9400 |
| 18:47246569:A:AC | donor_gain | 0.9400 |
| 18:47246570:C:CC | donor_gain | 0.9400 |
| 18:47246572:T:TA | donor_gain | 0.9400 |
| 18:47244978:CTTAT:C | acceptor_gain | 0.9200 |
| 18:47245566:G:GC | acceptor_gain | 0.9200 |
| 18:47244902:GCCTA:G | donor_loss | 0.9000 |
| 18:47244903:CCTA:C | donor_loss | 0.9000 |
| 18:47244904:CTAC:C | donor_loss | 0.9000 |
| 18:47244905:TA:T | donor_loss | 0.9000 |
| 18:47244906:AC:A | donor_loss | 0.9000 |
| 18:47244907:CCTGA:C | donor_loss | 0.9000 |
| 18:47244908:C:A | donor_loss | 0.9000 |
| 18:47231461:CA:C | acceptor_gain | 0.8900 |
| 18:47231463:C:CC | acceptor_gain | 0.8800 |
| 18:47244983:C:CC | acceptor_gain | 0.8800 |
| 18:47246542:G:C | donor_gain | 0.8700 |
| 18:47246569:ACAT:A | donor_gain | 0.8700 |
| 18:47246570:CATC:C | donor_gain | 0.8700 |
| 18:47246570:CATCT:C | donor_gain | 0.8700 |
| 18:47246647:G:A | donor_gain | 0.8700 |
| 18:47244901:AGCCT:A | donor_loss | 0.8600 |
| 18:47244980:TATCT:T | acceptor_loss | 0.8600 |
| 18:47244982:TCTA:T | acceptor_loss | 0.8600 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000015019 (18:47238750 G>A,C), RS1000068989 (18:47215268 T>C), RS1000286259 (18:47248241 C>A,T), RS1000339164 (18:47248358 G>A), RS1000470300 (18:47212222 T>G), RS1000494319 (18:47238425 C>T), RS1000498880 (18:47233640 A>G), RS1000607932 (18:47235700 G>C), RS1000676209 (18:47219449 G>A), RS1000726031 (18:47228329 C>T), RS1000820901 (18:47226229 G>A,T), RS1000960044 (18:47213448 T>A), RS1001093992 (18:47239939 T>C), RS1001141283 (18:47252853 T>A), RS1001158615 (18:47228680 G>A)
Disease associations
OMIM: gene MIM:617138 | disease phenotypes: MIM:621386
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| nervous system disorder | Limited | Autosomal recessive |
Mondo (2): Valence-Farazi cerebellar ataxia syndrome (MONDO:0980707), nervous system disorder (MONDO:0005071)
Orphanet (0):
HPO phenotypes
24 total (24 of 24 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000166 | Severe periodontitis |
| HP:0000486 | Strabismus |
| HP:0000639 | Nystagmus |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001256 | Mild intellectual disability |
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001328 | Specific learning disability |
| HP:0001374 | Congenital hip dislocation |
| HP:0002066 | Gait ataxia |
| HP:0002312 | Clumsiness |
| HP:0002599 | Head titubation |
| HP:0002650 | Scoliosis |
| HP:0002749 | Osteomalacia |
| HP:0003623 | Neonatal onset |
| HP:0007033 | Cerebellar dysplasia |
| HP:0007074 | Thick corpus callosum |
| HP:0012110 | Hypoplasia of the pons |
| HP:0012877 | Retrograde ejaculation |
| HP:0031936 | Delayed ability to walk |
| HP:0040010 | Small posterior fossa |
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000880_14 | Menarche (age at onset) | 2.000000e-13 |
| GCST002541_115 | Menarche (age at onset) | 8.000000e-20 |
| GCST003993_32 | Menarche (age at onset) | 1.000000e-11 |
| GCST007576_215 | Chronotype | 3.000000e-08 |
| GCST007742_31 | Iris heterochromicity | 8.000000e-06 |
| GCST010136_31 | Fruit consumption | 2.000000e-14 |
| GCST011494_81 | Daytime nap | 2.000000e-44 |
| GCST012227_711 | Hip circumference adjusted for BMI | 3.000000e-08 |
| GCST90000047_229 | Age at first sexual intercourse | 2.000000e-11 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004703 | age at menarche |
| EFO:0008328 | chronotype measurement |
| EFO:0009764 | eye colour measurement |
| EFO:0008111 | diet measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0009749 | age at first sexual intercourse measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009422 | Nervous System Diseases | C10 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs9952628 | SKOR2 | 0.00 | 0 |
CTD chemical–gene interactions
5 total (human), top 5 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| abrine | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00560157 | PHASE4 | COMPLETED | Nutritional and Metabolic Evaluation of a Tube Feeding Immune Enhancing Diet in ICU Patients |
| NCT01319643 | PHASE4 | UNKNOWN | Normal Oxygenation Versus Hyperoxia in the Intensive Care Unit (ICU) |
| NCT01662414 | PHASE4 | COMPLETED | Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease |
| NCT04289142 | PHASE4 | RECRUITING | Cognitive Outcomes After Dexmedetomidine Sedation in Cardiac Surgery Patients |
| NCT04386525 | PHASE4 | UNKNOWN | Omega 3 and Ischemic Stroke; Fish Oil as an Option |
| NCT04871464 | PHASE4 | UNKNOWN | Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease |
| NCT04970667 | PHASE4 | COMPLETED | Flupentixol and Melitracen Tablets in the Treatment of Emotional Disorder |
| NCT05068349 | PHASE4 | UNKNOWN | For Patients With Ischemic Stroke, Clinically Study the Effectiveness and Safety of Butylphthalide. |
| NCT05657860 | PHASE4 | COMPLETED | Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome |
| NCT06382467 | PHASE4 | UNKNOWN | Comparison of Remimazolam and Propofol Combination vs. Propofol in IOM |
| NCT06406127 | PHASE4 | RECRUITING | Effect of Alpha Lipoic Acid on Chemotherapy Induced Neurological Changes in Breast Cancer Patients |
| NCT00240695 | PHASE3 | COMPLETED | A Follow-up Study to Assess Safety and Tolerability of Galantamine Treatment in Individuals With Mild Cognitive Impairment |
| NCT01313299 | PHASE3 | COMPLETED | Dysport® Adult Upper Limb Spasticity |
| NCT01313312 | PHASE3 | COMPLETED | Dysport® Adult Upper Limb Spasticity Extension Study |
| NCT01425983 | PHASE3 | COMPLETED | Dietary Intervention of Stress-Induced Neurovegetative Disorders With a Specific Amino Acid Composition (asn01) |
| NCT01589289 | PHASE3 | COMPLETED | Rapid Diagnostic Tests and Clinical/Laboratory Predictors of Tropical Diseases in Neurological Disorders in DRC |
| NCT01826487 | PHASE3 | COMPLETED | Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) |
| NCT01862640 | PHASE3 | COMPLETED | A Phase 3, 12-week, Multicenter, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Efficacy, Safety, and Tolerability of 2 Fixed Doses of Brexpiprazole in the Treatment of Alzheimer’s Agitation |
| NCT01922258 | PHASE3 | COMPLETED | Safety and Tolerability Study of Flexible Dosing of Brexpiprazole in the Treatment of Subjects With Agitation Associated With Dementia of the Alzheimer’s Type |
| NCT02090959 | PHASE3 | TERMINATED | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy |
| NCT02284126 | PHASE3 | COMPLETED | Topical Vancomycin for Neurosurgery Wound Prophylaxis |
| NCT02436096 | PHASE3 | COMPLETED | A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia |
| NCT02770807 | PHASE3 | COMPLETED | Intra-Erythrocyte Dexamethasone Sodium Phosphate in Ataxia Telangiectasia Patients |
| NCT02829814 | PHASE3 | TERMINATED | Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia |
| NCT03179631 | PHASE3 | COMPLETED | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy |
| NCT03336450 | PHASE3 | COMPLETED | Study of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Pediatric Patients With Status Epilepticus (Convulsive) in the Community Setting |
| NCT03336645 | PHASE3 | COMPLETED | Open-label Study of Midazolam Hydrochloride Oromucosal Solution (MHOS/SHP615) in Children With Status Epilepticus (Convulsive) in a Healthcare Setting in Japan |
| NCT04639310 | PHASE3 | TERMINATED | XEN496 (Ezogabine) in Children With KCNQ2 Developmental and Epileptic Encephalopathy |
| NCT04912856 | PHASE3 | TERMINATED | An Open-Label Extension of the Study XEN496 (Ezogabine) in Children With KCNQ2-DEE |
| NCT05126758 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05508789 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of Donanemab (LY3002813) in Participants With Early Symptomatic Alzheimer’s Disease (TRAILBLAZER-ALZ 5) |
| NCT05738486 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study of Different Donanemab (LY3002813) Dosing Regimens in Adults With Early Alzheimer’s Disease (TRAILBLAZER-ALZ 6) |
| NCT05834855 | PHASE3 | RECRUITING | Non-inferiority Study of Rituximab Compared to Ocrelizumab in Relapsing MS |
| NCT06672237 | PHASE3 | RECRUITING | A Phase 3 Study of NTLA-2001 in ATTRv-PN |
| NCT06819592 | PHASE3 | RECRUITING | PRophylaxis Against Early VENTilator-associated Infections in Acute Brain Injury |
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Related Atlas pages
- Associated diseases: nervous system disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): nervous system disorder, Valence-Farazi cerebellar ataxia syndrome