Sleep apnea syndrome
diseaseOn this page
Also known as apnea syndrome, sleepapnea syndromes, sleepapnea, sleepapneas, sleepbreathing, sleep-disorderedbreathing-related sleep disorderhypersomnia with periodic respirationhypopnea, sleephypopneas, sleepmixed central and obstructive sleep apneamixed sleep apneamixed sleep ApneasSDBsleep apneasleep apnea, mixedsleep apnea, mixed central and obstructivesleep apneassleep apneas, mixedsleep disordered breathing
Summary
Sleep apnea syndrome (MONDO:0005296) is a disease with 4 cohort genes (60 GWAS associations across 45 studies) and 742 clinical trials. Top therapeutic interventions include acetazolamide, montelukast, and losartan.
At a glance
- Cohort genes: 4
- GWAS associations: 60
- ClinVar variants: 7
- Clinical trials: 742
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | sleep apnea syndrome |
| Mondo ID | MONDO:0005296 |
| EFO | EFO:0003877 |
| MeSH | D012891 |
| DOID | DOID:0050847 |
| ICD-10-CM | G47.3 |
| NCIT | C148023 |
| SNOMED CT | 111489007, 73430006 |
| UMLS | C0037315 |
| MedGen | 11458 |
| Is cancer (heuristic) | no |
Also known as: apnea syndrome, sleep · apnea syndromes, sleep · apnea, sleep · apneas, sleep · breathing, sleep-disordered · breathing-related sleep disorder · hypersomnia with periodic respiration · hypopnea, sleep · hypopneas, sleep · mixed central and obstructive sleep apnea · mixed sleep apnea · mixed sleep Apneas · SDB · sleep apnea · sleep apnea syndrome · sleep apnea, mixed · sleep apnea, mixed central and obstructive · sleep apneas · sleep apneas, mixed · sleep disordered breathing (+3 more)
Data availability: 7 ClinVar variants · 60 GWAS associations (45 studies) · 1 HPO phenotype.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by developmental or physiological process › sleep disorder › sleep-wake disorder › sleep apnea syndrome
Related subtypes (11): bruxism, recurrent hypersomnia, hypersomnia, periodic limb movement disorder, REM sleep behavior disorder, autosomal dominant cerebellar ataxia, deafness and narcolepsy, hereditary sensory neuropathy-deafness-dementia syndrome, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy, circadian rhythm sleep disorder, sleep disorder, initiating and maintaining sleep
Subtypes (2): central sleep apnea syndrome, obstructive sleep apnea syndrome
Genetics & variants
GWAS landscape
60 GWAS associations across 45 studies. Top hits map to 27 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs1421085 | 3e-87 | FTO | T | 0.08 |
| rs11642015 | 7e-45 | FTO | C | 0.08 |
| rs13107325 | 3e-33 | SLC39A8 | C | 0.09 |
| rs6724384 | 4e-21 | LINC01122 | C | 0.04 |
| rs11075985 | 5e-20 | FTO | ? | 0.02 |
| rs1389799 | 1e-18 | MSRB3 | ? | 0.04 |
| rs76880877 | 3e-18 | ETV5 | A | 0.05 |
| rs6265 | 2e-14 | BDNF-AS, BDNF | ? | 0.02 |
| rs592333 | 2e-14 | DLEU1, DLEU7 | ? | 0.04 |
| rs72902175 | 4e-14 | LINC01876 | ? | 0.04 |
| chr16:53799847 | 2e-13 | G | 0.07 | |
| rs78785910 | 2e-13 | ETV5 | G | 0.05 |
| chr1:112318484 | 2e-12 | A | 0.03 | |
| chr7:5395553 | 3e-12 | T | 0.06 | |
| chr7:114618505 | 8e-12 | A | 0.03 | |
| chr7:1896690 | 1e-11 | C | 0.04 | |
| chr10:77619044 | 1e-11 | C | 0.03 | |
| rs35445111 | 2e-11 | RNA5SP471 - RNU6-967P | ? | 0.05 |
| chr6:28831535 | 2e-11 | A | 0.05 | |
| chr6:98459736 | 2e-11 | A | 0.04 | |
| chr10:102598860 | 2e-11 | G | 0.04 | |
| chr3:85428726 | 3e-11 | T | 0.03 | |
| rs181962217 | 3e-11 | GHITM - CERNA2 | T | 2.14 |
| chr11:64456099 | 4e-11 | C | 0.03 | |
| rs13028310 | 4e-11 | LINC01875 - TMEM18 | T | 0.04 |
| rs6113592 | 8e-11 | LINC01432 - LINC01427 | ? | 0.02 |
| rs4923536 | 8e-11 | METTL15 | ? | 0.03 |
| rs12603115 | 8e-10 | SKAP1 | ? | 0.02 |
| rs1537818 | 1e-09 | MACF1 | ? | 0.02 |
| rs1444789 | 1e-09 | LINC02676 - LINC00709 | ? | 0.04 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475824 | Verma A | 2024 | 152,031 | 278,027 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475257 | Verma A | 2024 | 79,571 | 236,097 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477485 | Verma A | 2024 | 45,335 | 70,630 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479999 | Verma A | 2024 | 45,335 | 70,630 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90267361 | Campos AI | 2022 | 25,008 | 337,630 | Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring. |
| GCST90267363 | Campos AI | 2022 | 25,008 | 337,630 | Discovery of genomic loci associated with sleep apnoea risk through multi-trait GWAS analysis with snoring. |
| GCST90475258 | Verma A | 2024 | 24,111 | 291,557 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477483 | Verma A | 2024 | 22,934 | 34,075 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90624797 | Strausz S | 2025 | 20,413 | 443,463 | Genetic associations between Serotonin Receptor 1F (HTR1F) regulatory variation and sleep apnea in non-obese individuals: Insights from GWAS and eQTL analyses. |
| GCST90476694 | Verma A | 2024 | 15,464 | 40,041 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 3 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 2 |
| Tier 4: intronic/intergenic | 44 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 48 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 23 |
| unknown | 12 |
| intergenic_variant | 8 |
| missense_variant | 2 |
| regulatory_region_variant | 2 |
| 3_prime_UTR_variant | 1 |
| synonymous_variant | 1 |
| stop_gained | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs1421085 | 16 | 53767042 | T>C | 0.408 | intron_variant | FTO | 3e-87 | Tier 4: intronic/intergenic |
| rs11642015 | 16 | 53768582 | C>G,T | 0.404 | intron_variant | FTO | 7e-45 | Tier 4: intronic/intergenic |
| rs13107325 | 4 | 102267552 | C>A,T | 0.083 | missense_variant | SLC39A8 | 3e-33 | Tier 1: coding |
| rs6724384 | 2 | 58652358 | C>T | 0.412 | intron_variant | LINC01122 | 4e-21 | Tier 4: intronic/intergenic |
| rs11075985 | 16 | 53771295 | C>A | 0.05 | intron_variant | FTO | 5e-20 | Tier 4: intronic/intergenic |
| rs1389799 | 12 | 65431066 | A>C,G,T | 0.05 | intron_variant | MSRB3 | 1e-18 | Tier 4: intronic/intergenic |
| rs76880877 | 3 | 186084839 | A>C | 0.134 | intron_variant | ETV5 | 3e-18 | Tier 4: intronic/intergenic |
| rs6265 | 11 | 27658369 | C>A,G,T | 0.05 | missense_variant | BDNF-AS, BDNF | 2e-14 | Tier 1: coding |
| rs592333 | 13 | 50766179 | A>G,T | 0.05 | regulatory_region_variant | DLEU1, DLEU7 | 2e-14 | Tier 3: regulatory |
| rs72902175 | 2 | 156156523 | C>A,T | 0.05 | intron_variant | LINC01876 | 4e-14 | Tier 4: intronic/intergenic |
| chr16:53799847 | 0.426 | 2e-13 | Tier 4: intronic/intergenic | |||||
| rs78785910 | 3 | 186094845 | G>A | 0.143 | intron_variant | ETV5 | 2e-13 | Tier 4: intronic/intergenic |
| chr1:112318484 | 0.38 | 2e-12 | Tier 4: intronic/intergenic | |||||
| chr7:5395553 | 0.165 | 3e-12 | Tier 4: intronic/intergenic | |||||
| chr7:114618505 | 0.453 | 8e-12 | Tier 4: intronic/intergenic | |||||
| chr7:1896690 | 0.194 | 1e-11 | Tier 4: intronic/intergenic | |||||
| chr10:77619044 | 0.489 | 1e-11 | Tier 4: intronic/intergenic | |||||
| rs35445111 | 19 | 31681141 | A>G | 0.05 | intron_variant | RNA5SP471 - RNU6-967P | 2e-11 | Tier 4: intronic/intergenic |
| chr6:28831535 | 0.101 | 2e-11 | Tier 4: intronic/intergenic | |||||
| chr6:98459736 | 0.121 | 2e-11 | Tier 4: intronic/intergenic | |||||
| chr10:102598860 | 0.126 | 2e-11 | Tier 4: intronic/intergenic | |||||
| chr3:85428726 | 0.456 | 3e-11 | Tier 4: intronic/intergenic | |||||
| rs181962217 | 10 | 84156277 | T>A | 0.001 | intergenic_variant | GHITM - CERNA2 | 3e-11 | Tier 4: intronic/intergenic |
| chr11:64456099 | 0.305 | 4e-11 | Tier 4: intronic/intergenic | |||||
| rs13028310 | 2 | 632591 | T>A,C,G | 0.186 | intergenic_variant | LINC01875 - TMEM18 | 4e-11 | Tier 4: intronic/intergenic |
| rs6113592 | 20 | 22248867 | A>G | 0.05 | intergenic_variant | LINC01432 - LINC01427 | 8e-11 | Tier 4: intronic/intergenic |
| rs4923536 | 11 | 28400949 | A>G,T | 0.05 | regulatory_region_variant | METTL15 | 8e-11 | Tier 3: regulatory |
| rs12603115 | 17 | 48171632 | C>A,G,T | 0.05 | intron_variant | SKAP1 | 8e-10 | Tier 4: intronic/intergenic |
| rs1537818 | 1 | 39181366 | G>A | 0.05 | intron_variant | MACF1 | 1e-09 | Tier 4: intronic/intergenic |
| rs1444789 | 10 | 9022398 | T>C | 0.05 | intergenic_variant | LINC02676 - LINC00709 | 1e-09 | Tier 4: intronic/intergenic |
ClinVar germline variants
7 retrieved; paginated sample, class counts are floors:
4 pathogenic, 2 uncertain significance, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 267861 | 46;XX;t(2;11)(q11.2;p13)dn | Pathogenic | criteria provided, single submitter | |
| 133326 | NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) | AHDC1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 133327 | NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) | AHDC1 | Pathogenic | criteria provided, single submitter |
| 133328 | NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) | AHDC1 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2570654 | NM_020922.5(WNK3):c.4000dup (p.Arg1334fs) | WNK3 | Likely pathogenic | criteria provided, single submitter |
| 523307 | NC_012920.1(MT-CO3):m.9355A>T | MT-CO3 | Uncertain significance | criteria provided, single submitter |
| 2571627 | NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter) | NAV3 | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| AHDC1 | Orphanet:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome |
| MT-CO3 | Orphanet:104 | Leber hereditary optic neuropathy |
| MT-CO3 | Orphanet:254905 | Isolated cytochrome C oxidase deficiency |
| MT-CO3 | Orphanet:550 | MELAS |
| MT-CO3 | Orphanet:99845 | Genetic recurrent myoglobinuria |
Cohort genes → proteins
4 cohort genes, 4 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 4 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| WNK3 | HGNC:14543 | ENSG00000196632 | Q9BYP7 | Serine/threonine-protein kinase WNK3 | clinvar |
| NAV3 | HGNC:15998 | ENSG00000067798 | Q8IVL0 | Neuron navigator 3 | clinvar |
| AHDC1 | HGNC:25230 | ENSG00000126705 | Q5TGY3 | Transcription factor Gibbin | clinvar |
| MT-CO3 | HGNC:7422 | ENSG00000198938 | P00414 | Cytochrome c oxidase subunit 3 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| WNK3 | Serine/threonine-protein kinase WNK3 | Serine/threonine-protein kinase component of the WNK3-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis and regulatory volume increase in response to hyperosmotic stress. |
| NAV3 | Neuron navigator 3 | Is involved in microtubule cytoskeleton organization and plays a role in cell migration. |
| AHDC1 | Transcription factor Gibbin | Transcription factor required for the proper patterning of the epidermis, which plays a key role in early epithelial morphogenesis. |
| MT-CO3 | Cytochrome c oxidase subunit 3 | Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 3 · Druggable fraction: 0.25
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 |
|---|---|---|---|
| Kinase | 1 | 6.9× | 0.273 |
| Other/Unknown | 3 | 1.3× | 0.404 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| WNK3 | Kinase | yes | Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf | |
| NAV3 | Other/Unknown | no | CH_dom, AAA+_ATPase, ATPase_AAA_core | |
| AHDC1 | Other/Unknown | no | DUF4683, AHDC1 | |
| MT-CO3 | Other/Unknown | no | Cyt_c_oxidase-like_su3, Cyt_c_oxidase_su3_a-hlx, Cyt_c/ubiquinol_Oxase_su3 |
Expression context
Cohort genes with no expression data: 0.
4 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 4 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| buccal mucosa cell | 1 |
| cauda epididymis | 1 |
| corpus epididymis | 1 |
| Brodmann (1909) area 23 | 1 |
| cortical plate | 1 |
| middle temporal gyrus | 1 |
| Brodmann (1909) area 10 | 1 |
| frontal pole | 1 |
| paraflocculus | 1 |
| endocervix | 1 |
| rectum | 1 |
| zone of skin | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| WNK3 | 181 | broad | marker | corpus epididymis, buccal mucosa cell, cauda epididymis |
| NAV3 | 232 | ubiquitous | marker | middle temporal gyrus, cortical plate, Brodmann (1909) area 23 |
| AHDC1 | 232 | ubiquitous | marker | paraflocculus, Brodmann (1909) area 10, frontal pole |
| MT-CO3 | 134 | ubiquitous | marker | zone of skin, endocervix, rectum |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MT-CO3 | 1,791 |
| WNK3 | 1,097 |
| NAV3 | 963 |
| AHDC1 | 787 |
Structural data
PDB: 2 · AlphaFold-only: 2 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| WNK3 | Q9BYP7 | 9 |
| MT-CO3 | P00414 | 3 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| NAV3 | Q8IVL0 | 48.21 |
| AHDC1 | Q5TGY3 | 38.82 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 6. Enrichment computed across 4 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Complex IV assembly | 1 | 114.2× | 0.021 | MT-CO3 |
| Cytoprotection by HMOX1 | 1 | 92.1× | 0.021 | MT-CO3 |
| Stimuli-sensing channels | 1 | 68.0× | 0.021 | WNK3 |
| TP53 Regulates Metabolic Genes | 1 | 64.9× | 0.021 | MT-CO3 |
| Mitochondrial translation termination | 1 | 54.9× | 0.021 | MT-CO3 |
| Respiratory electron transport | 1 | 47.6× | 0.021 | MT-CO3 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| positive regulation of sodium ion transmembrane transporter activity | 1 | 2106.5× | 0.010 | WNK3 |
| negative regulation of pancreatic juice secretion | 1 | 842.6× | 0.010 | WNK3 |
| respiratory chain complex IV assembly | 1 | 601.9× | 0.010 | MT-CO3 |
| monoatomic ion homeostasis | 1 | 601.9× | 0.010 | WNK3 |
| regulation of calcium ion import | 1 | 526.6× | 0.010 | WNK3 |
| regulation of monoatomic cation transmembrane transport | 1 | 526.6× | 0.010 | WNK3 |
| positive regulation of peptidyl-threonine phosphorylation | 1 | 468.1× | 0.010 | WNK3 |
| osmosensory signaling pathway | 1 | 383.0× | 0.011 | WNK3 |
| skin morphogenesis | 1 | 351.1× | 0.011 | AHDC1 |
| cellular hyperosmotic response | 1 | 300.9× | 0.011 | WNK3 |
| membraneless organelle assembly | 1 | 280.9× | 0.011 | WNK3 |
| renal sodium ion absorption | 1 | 247.8× | 0.011 | WNK3 |
| positive regulation of sodium ion transport | 1 | 210.7× | 0.012 | WNK3 |
| mitochondrial electron transport, cytochrome c to oxygen | 1 | 191.5× | 0.012 | MT-CO3 |
| positive regulation of microtubule polymerization | 1 | 168.5× | 0.012 | NAV3 |
| negative regulation of protein localization to plasma membrane | 1 | 156.0× | 0.012 | WNK3 |
| cell volume homeostasis | 1 | 150.5× | 0.012 | WNK3 |
| negative regulation of interleukin-2 production | 1 | 145.3× | 0.012 | NAV3 |
| positive regulation of calcium ion transport | 1 | 145.3× | 0.012 | WNK3 |
| mesoderm formation | 1 | 123.9× | 0.013 | AHDC1 |
| negative regulation of microtubule depolymerization | 1 | 123.9× | 0.013 | NAV3 |
| maintenance of blood-brain barrier | 1 | 120.4× | 0.013 | WNK3 |
| cellular respiration | 1 | 108.0× | 0.014 | MT-CO3 |
| positive regulation of protein localization to plasma membrane | 1 | 68.0× | 0.021 | WNK3 |
| neurogenesis | 1 | 52.0× | 0.026 | NAV3 |
| microtubule cytoskeleton organization | 1 | 30.3× | 0.043 | NAV3 |
| negative regulation of cell migration | 1 | 27.9× | 0.044 | NAV3 |
| protein localization to plasma membrane | 1 | 27.2× | 0.044 | WNK3 |
| protein phosphorylation | 1 | 17.0× | 0.068 | WNK3 |
| DNA damage response | 1 | 13.4× | 0.082 | WNK3 |
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 |
|---|---|
| Armodafinil | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Atomoxetine, Carbon Dioxide, Incobotulinumtoxina, Medroxyprogesterone Acetate, Montelukast, Onabotulinumtoxina, Oxybutynin.
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 1 · Undrugged: 3
Druggability breadth: 2 of 4 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| WNK3 | 1 | 2 |
| NAV3 | 0 | 0 |
| AHDC1 | 0 | 0 |
| MT-CO3 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| ADAVOSERTIB | 2 | WNK3 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| WNK3 | 142 | Binding:142 |
| MT-CO3 | 1 | Binding:1 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| WNK3 | 142 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
1 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) |
|---|---|---|
| ADAVOSERTIB | 2 | WNK3 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 1 | WNK3 |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 3 | NAV3, AHDC1, MT-CO3 |
Undrugged target profiles
3 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| NAV3 | 0 | — |
| AHDC1 | 0 | — |
| MT-CO3 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 742.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 611 |
| PHASE4 | 47 |
| PHASE2 | 33 |
| PHASE3 | 16 |
| PHASE2/PHASE3 | 11 |
| PHASE1 | 11 |
| PHASE1/PHASE2 | 8 |
| EARLY_PHASE1 | 5 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02630121 | PHASE4 | RECRUITING | Effect of Oxymetazoline Hydrochloride in Combination With Fluticasone Propionate on the Apnea Hypopnea Index (AHI) in Subject With Persistent Nasal Congestion and Mild Obstructive Sleep Apnea |
| NCT02703220 | PHASE4 | RECRUITING | Sleep Apnea in Elderly |
| NCT02922894 | PHASE4 | RECRUITING | Treatment of Sleep Apnea in Patients With Cervical Spinal Cord Injury |
| NCT04118387 | PHASE4 | RECRUITING | Central Sleep Apnea : Physiologic Mechanisms to Inform Treatment |
| NCT05612594 | PHASE4 | RECRUITING | Adipose Dysfunction, Imaging, Physiology, and Outcomes With Sodium Glucose Cotransporter 2 Inhibitor (SGLT2i) for Sleep Apnea: The ADIPOSA Study |
| NCT05846490 | PHASE4 | RECRUITING | Impact of Obstructive Sleep Apnea (OSA) Treatment on Blood Pressure Control in Chronic Kidney Disease |
| NCT06463561 | PHASE4 | RECRUITING | CPAP Effect on Lipid Profile and Hyperuricemia in Patients With Dyslipidemia and Moderate-severe Obstructive Sleep Apnea |
| NCT06498531 | PHASE4 | RECRUITING | HighCycle Study: Effect of Acetazolamide on Sleep Disordered Breathing in Women Compared to Men |
| NCT06576830 | PHASE4 | RECRUITING | Optimization of Pediatric Tonsillectomy to IMprove AnaLgesia |
| NCT07210606 | PHASE4 | NOT_YET_RECRUITING | Central Apnea in Heart Failure: Physiological Mechanisms to Inform Treatment |
| NCT00127348 | PHASE4 | COMPLETED | Effect of Continuous Positive Airway Pressure (CPAP) on Hypertension and Cardiovascular Morbidity-Mortality in Patients With Sleep Apnea and no Daytime Sleepiness |
| NCT00299910 | PHASE4 | UNKNOWN | Inflammatory Response to Anti Inflammatory Therapy in Children With Sleep Disordered Breathing |
| NCT00424658 | PHASE4 | COMPLETED | Sleep Apnea. Concordance Between Non-reference and Reference Centres |
| NCT00487929 | PHASE4 | COMPLETED | Oxidative Stress and Cardiovascular Morbidity in Sleep Apnea-Hypopnea Syndrome (SAHS) |
| NCT00517777 | PHASE4 | UNKNOWN | Continuous Positive Airway Pressure in Sleep Apnea Syndrome: Effects on Metabolic Syndrome and Cardiac Damage |
| NCT00547937 | PHASE4 | COMPLETED | Sleep Apnea and Oxidative Stress and Nitric Oxide |
| NCT00701428 | PHASE4 | COMPLETED | Losartan in Hypertensive Men and Women With Sleep Apnea Before and on Continuous Positive Airway Pressure (CPAP) Treatment |
| NCT00765713 | PHASE4 | COMPLETED | Sleep Apnea-hypopnea Syndrome (SAHS) and Ventricular Arrhythmias |
| NCT00804349 | PHASE4 | COMPLETED | Treatment of Sleep Disordered Breathing In Acute Decompensated Heart Failure Patients |
| NCT01164631 | PHASE4 | COMPLETED | Pharyngeal Size in Patients With Obstructive Tonsils Under Orthodontic Treatment |
| NCT01505959 | PHASE4 | UNKNOWN | Blood Pressure Reduction Induced by CPAP in Sleep Apnea Patients at High Cardiovascular Risk : OPTISAS 2 Study |
| NCT01796769 | PHASE4 | UNKNOWN | Multidisciplinary and Coordinated Follow-up Based on a Telemonitoring Web Platform for Improving CPAP Compliance in Low Cardiovascular Risk Sleep Apnea Patients : OPTISAS 1 Study |
| NCT01801150 | PHASE4 | COMPLETED | CPAP in Diabetes Type 2 Patients With Sleep Apnea |
| NCT01807897 | PHASE4 | COMPLETED | Oxygen Versus PAP for Sleep Apnea in Heart Failure |
| NCT01861145 | PHASE4 | WITHDRAWN | Intranasal Steroids for the Treatment of Nocturnal Enuresis With Associated Obstructive Sleep Apnea |
| NCT02045173 | PHASE4 | COMPLETED | Automate Detection of Sleep Apnea by ApneascanTM |
| NCT02058823 | PHASE4 | TERMINATED | Intermittent Hypoxia 2: Cardiovascular and Metabolism |
| NCT02295202 | PHASE4 | COMPLETED | Impact of Obstructive Sleep Apnea Treatment in Patients With Metabolic Syndrome |
| NCT02296840 | PHASE4 | TERMINATED | Post-operative Pain Control After Pediatric Adenotonsillectomy |
| NCT02398032 | PHASE4 | COMPLETED | CPAP in SAHS Patients With Hypertension |
| NCT02426424 | PHASE4 | WITHDRAWN | Effect Of Early C-PAP Treatment For Sleep Apnea On Rehabilitation Of Stroke Patients |
| NCT02566226 | PHASE4 | COMPLETED | Impact of Intrathecal Morphine on Sleep Apnea Syndrome |
| NCT02643979 | PHASE4 | TERMINATED | Ketamine and Propofol Combination Versus Propofol for Upper Gastrointestinal Endoscopy |
| NCT02717780 | PHASE4 | COMPLETED | Short Life Agents in Balanced Anesthesia on Obstructive Sleep Apnea Syndrome |
| NCT02816762 | PHASE4 | COMPLETED | CPAP Effect on Albuminuria in Patients With Diabetic Nephropathy and Obstructive Sleep Apnea |
| NCT02874313 | PHASE4 | COMPLETED | CPAP Effect on the Progression of Diabetic Retinopathy in Patients With Sleep Apnea |
| NCT02916160 | PHASE4 | COMPLETED | Sacubitril-valsartan and Heart Failure Patients : the ENTRESTO-SAS Study |
| NCT03011294 | PHASE4 | COMPLETED | Cardiovascular Impact, Quality e Quantity of Sleep in Bed Partners of Patients With Obstructive Sleep Apnea |
| NCT03335904 | PHASE4 | COMPLETED | AT1R Blockade and Periodic Breathing During Sleep in Hypoxia |
| NCT03454217 | PHASE4 | COMPLETED | Impact of Tramadol and Oxycodone on Sleep Apnea |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ACETAZOLAMIDE | 4 | 8 |
| MONTELUKAST | 4 | 5 |
| LOSARTAN | 4 | 4 |
| TRAZODONE | 4 | 4 |
| ARMODAFINIL | 4 | 3 |
| DEXTROMETHORPHAN | 4 | 3 |
| OXYBUTYNIN | 4 | 3 |
| OXYGEN | 4 | 3 |
| OXYMETAZOLINE | 4 | 3 |
| ATOMOXETINE | 4 | 2 |
| BUSPIRONE | 4 | 2 |
| ESZOPICLONE | 4 | 2 |
| KETOROLAC | 4 | 2 |
| METOPROLOL | 4 | 2 |
| ZOLPIDEM | 4 | 2 |
| ZOPICLONE | 4 | 2 |
| AMLODIPINE | 4 | 1 |
| BETAMETHASONE | 4 | 1 |
| BEXAGLIFLOZIN | 4 | 1 |
| BOSENTAN | 4 | 1 |
| CYCLOSERINE | 4 | 1 |
| DESFLURANE | 4 | 1 |
| DIMETHYL FUMARATE | 4 | 1 |
| FENOFIBRATE | 4 | 1 |
| FINASTERIDE | 4 | 1 |
| HYDROMORPHONE | 4 | 1 |
| HYDROXYCHLOROQUINE | 4 | 1 |
| IBUPROFEN | 4 | 1 |
| MEDROXYPROGESTERONE ACETATE | 4 | 1 |
| METHADONE | 4 | 1 |
Related Atlas pages
- Cohort genes: WNK3, NAV3, AHDC1, MT-CO3
- Drugs: Acetazolamide, Montelukast, Losartan, Trazodone, Armodafinil, Dextromethorphan, Oxybutynin, Oxygen, Oxymetazoline, Atomoxetine, Buspirone, Eszopiclone, Ketorolac, Metoprolol, Zolpidem, Zopiclone, Amlodipine, Betamethasone, Bexagliflozin, Bosentan, Cycloserine, Desflurane, Dimethyl Fumarate, Fenofibrate, Finasteride, Hydromorphone, Hydroxychloroquine, Ibuprofen, Medroxyprogesterone Acetate, Methadone