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Atlas / Disease / Nasal cavity polyp

Nasal cavity polyp

disease
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Also known as nasal polyppolyp of nasal cavitypolyp of the nasal cavity

Summary

Nasal cavity polyp (MONDO:0006314) is a disease with 15 cohort genes (69 GWAS associations across 24 studies) and 95 clinical trials. Top therapeutic interventions include omalizumab, mepolizumab, and montelukast.

At a glance

  • Cohort genes: 15
  • GWAS associations: 69
  • ClinVar variants: 1
  • Clinical trials: 95

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namenasal cavity polyp
Mondo IDMONDO:0006314
EFOEFO:1000391
MeSHD009298
ICD-10-CMJ33.0
NCITC3256
SNOMED CT52756005
UMLSC0027430
MedGen6524
Anatomy (UBERON)UBERON:0001707
Is cancer (heuristic)no

Also known as: nasal cavity polyp · nasal polyp · polyp of nasal cavity · polyp of the nasal cavity

Data availability: 1 ClinVar variant · 69 GWAS associations (24 studies) · 9 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › otorhinolaryngologic disease › nasal disorder › nasal cavity disorder › nasal cavity polyp

Related subtypes (4): rhinitis, nasal cavity neoplasm, Binder syndrome, choanal atresia

Genetics & variants

GWAS landscape

69 GWAS associations across 24 studies. Top hits map to 25 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs20950441e-58RANBP6 - GTF3AP1?1.34
rs13913717e-49HLA-DQA1T1.47
rs92715802e-40HLA-DRB1 - HLA-DQA1G0.35
rs18889091e-39GTF3AP1 - IL33C0.32
rs18372532e-32BCLAF1P1 - TSLPC0.28
rs9629933e-28LINC02676 - LINC00709?0.83
rs349622758e-28WDR36 - RPS3AP21?1.2
rs342106538e-27ALOX15G3.12
rs3385932e-18CYP2S1?1.15
rs92715792e-18HLA-DRB1 - HLA-DQA1A0.32
rs618401923e-18LINC02676 - LINC00709A0.18
rs563994235e-18SLC22A4, MIR3936HG?0.87
rs624082241e-17BACH2G0.19
rs16636803e-16LINC02676 - LINC00709?0.97
rs7057025e-16RAB5B - SUOX?1.15
rs561171448e-16IL18RAP - SLC9A4?1.15
rs109052842e-15GATA3?1.14
rs39392867e-15GTF3AP1 - IL33C0.27
rs14447821e-14LINC02676 - LINC00709G1.19
rs345408435e-14CLEC16A?0.86
rs622470348e-14FOXP1A0.17
rs1439864761e-13GIGYF2A0.2
rs117388278e-13CDC42SE2?0.88
rs124792102e-12IL18R1, IL1RL1T0.15
rs68666143e-12IRF1, CARINHG0.15
rs664841683e-12RPL6P5 - METAP2P1?0.81
rs10509795e-12IRF4G0.14
rs177184441e-11FOXP1C1.18
rs347200062e-11CLEC16AA0.16
rs20890815e-11ARNT?0.98

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90473689UK Biobank Whole-Genome Sequencing Consortium20257,447450,993Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90081502Backman JD20215,381381,522Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90085488Backman JD20215,381381,522Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90018883Sakaue S20215,093444,966A cross-population atlas of genetic associations for 220 human phenotypes.
GCST90080113Backman JD20214,168382,509Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084099Backman JD20214,168382,509Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90269779Saarentaus EC20233,919199,208Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
GCST90269790Saarentaus EC20233,919199,208Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation.
GCST90044046Jiang L20212,863453,485A generalized linear mixed model association tool for biobank-scale data.
GCST90103411Fitzgerald T20222,780167,977CNest: A novel copy number association discovery method uncovers 862 new associations from 200,629 whole-exome sequence datasets in the UK Biobank.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding3
Tier 2: splice/UTR1
Tier 3: regulatory3
Tier 4: intronic/intergenic43

MAF distribution

BucketVariants
common (>=0.05)46
low_freq (0.01-0.05)1
rare (<0.01)0
unknown3

Functional consequences

ConsequenceCount
intron_variant29
intergenic_variant12
regulatory_region_variant3
missense_variant3
3_prime_UTR_variant1
synonymous_variant1
non_coding_transcript_exon_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs209504496192796T>A,C,G0.05intergenic_variantRANBP6 - GTF3AP11e-58Tier 4: intronic/intergenic
rs1391371632636021A>C,G,T0.195intergenic_variantHLA-DQA17e-49Tier 4: intronic/intergenic
rs9271580632622864T>G0.05regulatory_region_variantHLA-DRB1 - HLA-DQA12e-40Tier 3: regulatory
rs188890996197392T>A,C0.05intergenic_variantGTF3AP1 - IL331e-39Tier 4: intronic/intergenic
rs18372535111066174T>C0.05intron_variantBCLAF1P1 - TSLP2e-32Tier 4: intronic/intergenic
rs962993109011169C>T0.05intron_variantLINC02676 - LINC007093e-28Tier 4: intronic/intergenic
rs349622755111133279A>G,T0.05intergenic_variantWDR36 - RPS3AP218e-28Tier 4: intronic/intergenic
rs34210653174632019G>A0.025missense_variantALOX158e-27Tier 1: coding
rs3385931941198399T>C0.05intron_variantCYP2S12e-18Tier 4: intronic/intergenic
rs9271579632622860T>A,C0.204regulatory_region_variantHLA-DRB1 - HLA-DQA12e-18Tier 3: regulatory
rs61840192109001441G>A,C,T0.05intron_variantLINC02676 - LINC007093e-18Tier 4: intronic/intergenic
rs563994235132336964T>C0.05intron_variantSLC22A4, MIR3936HG5e-18Tier 4: intronic/intergenic
rs62408224690246276A>G0.05intron_variantBACH21e-17Tier 4: intronic/intergenic
rs1663680109015282T>C0.05intron_variantLINC02676 - LINC007093e-16Tier 4: intronic/intergenic
rs7057021255996852A>C,G,T0.05regulatory_region_variantRAB5B - SUOX5e-16Tier 3: regulatory
rs561171442102458191T>A,C,G0.05intergenic_variantIL18RAP - SLC9A48e-16Tier 4: intronic/intergenic
rs10905284108073399C>A,G,T0.05intron_variantGATA32e-15Tier 4: intronic/intergenic
rs393928696210099T>A,C0.253intergenic_variantGTF3AP1 - IL337e-15Tier 4: intronic/intergenic
rs1444782109016708G>A0.403intron_variantLINC02676 - LINC007091e-14Tier 4: intronic/intergenic
rs345408431611127430A>G,T0.05intron_variantCLEC16A5e-14Tier 4: intronic/intergenic
rs62247034371496647C>A0.05intron_variantFOXP18e-14Tier 4: intronic/intergenic
rs1439864762232852594intron_variantGIGYF21e-13Tier 4: intronic/intergenic
rs117388275131381397C>T0.05intron_variantCDC42SE28e-13Tier 4: intronic/intergenic
rs124792102102332701C>A,T0.05intron_variantIL18R1, IL1RL12e-12Tier 4: intronic/intergenic
rs68666145132451445A>G,T0.05intron_variantIRF1, CARINH3e-12Tier 4: intronic/intergenic
rs664841682145817905G>A,T0.05intergenic_variantRPL6P5 - METAP2P13e-12Tier 4: intronic/intergenic
rs10509796410417A>C,G0.053_prime_UTR_variantIRF45e-12Tier 2: splice/UTR
rs17718444371450250C>T0.3intron_variantFOXP11e-11Tier 4: intronic/intergenic
rs347200061611149598C>A0.05intron_variantCLEC16A2e-11Tier 4: intronic/intergenic
rs20890811150827641T>C0.05intron_variantARNT5e-11Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
4687106NM_000492.4(CFTR):c.3290G>A (p.Arg1097His)CFTRUncertain significancecriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 22 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
MYRFOrphanet:647811Cardiac-urogenital syndrome
BACH2Orphanet:714472Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
CFTROrphanet:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
CFTROrphanet:48Congenital bilateral absence of vas deferens
CFTROrphanet:498359Aquagenic palmoplantar keratoderma
CFTROrphanet:586Cystic fibrosis
CFTROrphanet:60033Idiopathic bronchiectasis
CFTROrphanet:700124Autosomal recessive hereditary chronic pancreatitis
FOXP1Orphanet:391372FOXP1 Syndrome
FOXP1Orphanet:52417MALT lymphoma
FOXP1Orphanet:585877B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
GATA3Orphanet:2237Hypoparathyroidism-sensorineural deafness-renal disease syndrome
GATA3Orphanet:585936B-lymphoblastic leukemia/lymphoma with hyperdiploidy
GPX4Orphanet:93317Spondylometaphyseal dysplasia, Sedaghatian type
HLA-BOrphanet:117Behçet disease
HLA-BOrphanet:275798Pulmonary arterial hypertension associated with connective tissue disease
HLA-BOrphanet:29207Reactive arthritis
HLA-BOrphanet:3287Takayasu arteritis
HLA-BOrphanet:36426Stevens-Johnson syndrome
HLA-BOrphanet:397Giant cell arteritis
HLA-DQA1Orphanet:391490Adult-onset myasthenia gravis
HLA-DQA1Orphanet:930Idiopathic achalasia

Cohort genes → proteins

15 cohort genes, 15 distinct canonical proteins.

Evidence partition

SubsetGenes
gwas_only14
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
SLC22A4HGNC:10968ENSG00000197208Q9H015Solute carrier family 22 member 4gwas
MYRFHGNC:1181ENSG00000124920Q9Y2G1Myelin regulatory factorgwas
BACH2HGNC:14078ENSG00000112182Q9BYV9Transcription regulator protein BACH2gwas
CYP2S1HGNC:15654ENSG00000167600Q96SQ9Cytochrome P450 2S1gwas
IL33HGNC:16028ENSG00000137033O95760Interleukin-33gwas
CFTRHGNC:1884ENSG00000001626P13569Cystic fibrosis transmembrane conductance regulatorclinvar
TSLPHGNC:30743ENSG00000145777Q969D9Thymic stromal lymphopoietingwas
FOXP1HGNC:3823ENSG00000114861Q9H334Forkhead box protein P1gwas
GATA3HGNC:4172ENSG00000107485P23771Trans-acting T-cell-specific transcription factor GATA-3gwas
ALOX15HGNC:433ENSG00000161905P16050Polyunsaturated fatty acid lipoxygenase ALOX15gwas
GPX4HGNC:4556ENSG00000167468P36969Phospholipid hydroperoxide glutathione peroxidase GPX4gwas
HLA-BHGNC:4932ENSG00000234745P01889HLA class I histocompatibility antigen, B alpha chaingwas
HLA-DQA1HGNC:4942ENSG00000196735P01909HLA class II histocompatibility antigen, DQ alpha 1 chaingwas
IL18R1HGNC:5988ENSG00000115604Q13478Interleukin-18 receptor 1gwas
IL1RL1HGNC:5998ENSG00000115602Q01638Interleukin-1 receptor-like 1gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
SLC22A4Solute carrier family 22 member 4Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations.
MYRFMyelin regulatory factorConstitutes a precursor of the transcription factor.
BACH2Transcription regulator protein BACH2Transcriptional regulator that acts as a repressor or activator.
CYP2S1Cytochrome P450 2S1A cytochrome P450 monooxygenase involved in the metabolism of retinoids and eicosanoids.
IL33Interleukin-33Cytokine that binds to and signals through the IL1RL1/ST2 receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells.
CFTRCystic fibrosis transmembrane conductance regulatorEpithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis.
TSLPThymic stromal lymphopoietinCytokine that induces the release of T-cell-attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells.
FOXP1Forkhead box protein P1Transcriptional repressor.
GATA3Trans-acting T-cell-specific transcription factor GATA-3Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes.
ALOX15Polyunsaturated fatty acid lipoxygenase ALOX15Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators.
GPX4Phospholipid hydroperoxide glutathione peroxidase GPX4Essential antioxidant peroxidase that directly reduces phospholipid hydroperoxide even if they are incorporated in membranes and lipoproteins.
HLA-BHLA class I histocompatibility antigen, B alpha chainAntigen-presenting major histocompatibility complex class I (MHCI) molecule.
HLA-DQA1HLA class II histocompatibility antigen, DQ alpha 1 chainBinds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells.
IL18R1Interleukin-18 receptor 1Within the IL18 receptor complex, responsible for the binding of the pro-inflammatory cytokine IL18, but not IL1A nor IL1B.
IL1RL1Interleukin-1 receptor-like 1Receptor for interleukin-33 (IL-33) which plays crucial roles in innate and adaptive immunity, contributing to tissue homeostasis and responses to environmental stresses together with coreceptor IL1RAP.

Protein-family classification

Druggable: 8 · Difficult: 4 · Unknown: 3 · Druggable fraction: 0.53

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.

FamilyGenesFoldFDR
Antibody/Immunoglobulin47.8×0.007
Transporter210.4×0.039
Transcription factor42.2×0.164
Enzyme (other)21.6×0.449
Other/Unknown30.4×0.999

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
SLC22A4TransporteryesOrgcat_transp/SVOP, MFS_sugar_transport-like, Sugar_transporter_CS
MYRFTranscription factornop53-like_TF_DNA-bd_sf, NDT80_DNA-bd_dom, MYRF_C2
BACH2Transcription factornoBTB/POZ_dom, bZIP_Maf, bZIP
CYP2S1Other/UnknownnoCyt_P450, Cyt_P450_E_grp-I, Cyt_P450_E_grp-I_CYP2A-like
IL33Other/UnknownnoIL-33, IL33_C
CFTRTransporteryes2.7.4.3ABC_transporter-like_ATP-bd, AAA+_ATPase, CFTR/ABCC7
TSLPOther/UnknownnoTSLP, TSLP_sf
FOXP1Transcription factornoFork_head_dom, TF_fork_head_CS_2, FOXP-CC
GATA3Transcription factornoZnf_GATA, Znf_NHR/GATA, TF_GATA-2/3
ALOX15Enzyme (other)yes1.13.11.31LipOase, PLAT/LH2_dom, LipOase_mml
GPX4Enzyme (other)yes1.11.1.12Glutathione_peroxidase, GPX_AS, GPX_CS
HLA-BAntibody/ImmunoglobulinyesMHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set
HLA-DQA1Antibody/ImmunoglobulinyesMHC_II_a_N, Ig/MHC_CS, Ig_C1-set
IL18R1Antibody/ImmunoglobulinyesTIR_dom, Ig_sub, IL-1_rcpt_I/II-typ
IL1RL1Antibody/ImmunoglobulinyesTIR_dom, Ig_sub2, Ig_sub

Expression context

Cohort genes with no expression data: 0.

15 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)15
unknown0

Top tissues across cohort

TissueCohort genes
gall bladder3
bronchial epithelial cell2
epithelium of bronchus2
olfactory segment of nasal mucosa2
upper lobe of left lung2
upper lobe of lung2
bronchus1
C1 segment of cervical spinal cord1
inferior vagus X ganglion1
middle frontal gyrus1
cortical plate1
epithelium of nasopharynx1
sural nerve1
duodenum1
ileal mucosa1
jejunal mucosa1
calcaneal tendon1
right coronary artery1
body of pancreas1
pancreas1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
SLC22A4201ubiquitousmarkerbronchial epithelial cell, epithelium of bronchus, bronchus
MYRF223ubiquitousmarkermiddle frontal gyrus, C1 segment of cervical spinal cord, inferior vagus X ganglion
BACH2237ubiquitousmarkercortical plate, sural nerve, epithelium of nasopharynx
CYP2S1179broadmarkerileal mucosa, jejunal mucosa, duodenum
IL33239broadmarkercalcaneal tendon, right coronary artery, olfactory segment of nasal mucosa
CFTR193broadmarkerbody of pancreas, gall bladder, pancreas
TSLP173ubiquitousmarkerepithelial cell of pancreas, gall bladder, cartilage tissue
FOXP1256ubiquitousmarkerpancreatic ductal cell, oviduct epithelium, cardia of stomach
GATA3220broadmarkerupper leg skin, skin of hip, endometrium epithelium
ALOX15154tissue_specificmarkerolfactory segment of nasal mucosa, bronchial epithelial cell, epithelium of bronchus
GPX4293ubiquitousmarkerleft testis, right testis, adult organism
HLA-B134ubiquitousmarkerblood, spleen, granulocyte
HLA-DQA1244broadmarkergall bladder, rectum, monocyte
IL18R1191broadmarkerright lung, upper lobe of left lung, upper lobe of lung
IL1RL1197tissue_specificmarkerupper lobe of left lung, upper lobe of lung, decidua

Protein interactions among cohort

Intra-cohort edges: 7.

Hub genes (top 10 by interactor count)

SymbolInteractor count
CFTR7,664
GATA35,990
HLA-B3,209
GPX43,036
FOXP12,939
IL332,660
BACH21,917
IL18R11,767
ALOX151,757
SLC22A41,615

Intra-cohort edges

ABSources
ALOX15GPX4string_interaction
CFTRIL1RL1intact
FOXP1GATA3string_interaction
IL18R1IL33string_interaction
IL1RL1IL33biogrid_interaction, intact, string_interaction
IL1RL1TSLPstring_interaction
IL33TSLPstring_interaction

Structural data

PDB: 12 · AlphaFold-only: 3 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
HLA-BP01889237
CFTRP1356958
HLA-DQA1P0190928
GPX4P3696923
IL33O957605
TSLPQ969D95
GATA3P237713
IL18R1Q134783
MYRFQ9Y2G12
BACH2Q9BYV92
FOXP1Q9H3341
IL1RL1Q016381

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
ALOX15P1605095.46
CYP2S1Q96SQ992.84
SLC22A4Q9H01585.07

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 72. Enrichment computed across 15 evidence-associated genes (13 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 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Interleukin-33 signaling2585.6×3e-04IL33, IL1RL1
Biosynthesis of E-series 18(R)-resolvins2439.2×3e-04ALOX15, GPX4
Biosynthesis of E-series 18(S)-resolvins2351.4×3e-04ALOX15, GPX4
Synthesis of 15-eicosatetraenoic acid derivatives2292.8×3e-04ALOX15, GPX4
Synthesis of 12-eicosatetraenoic acid derivatives2251.0×4e-04ALOX15, GPX4
Ub-specific processing proteases312.3×0.020IL33, CFTR, GATA3
Biosynthesis of DPAn-6 SPMs1439.2×0.020ALOX15
Biosynthesis of DPAn-3-derived protectins and resolvins1439.2×0.020ALOX15
RHO GTPases regulate CFTR trafficking1292.8×0.021CFTR
Biosynthesis of DPA-derived SPMs1292.8×0.021ALOX15
Biosynthesis of aspirin-triggered D-series resolvins1292.8×0.021GPX4
Biosynthesis of D-series resolvins1219.6×0.021GPX4
Biosynthesis of EPA-derived SPMs1219.6×0.021ALOX15
Biosynthesis of protectins1219.6×0.021ALOX15
Biosynthesis of DPAn-3 SPMs1219.6×0.021ALOX15
Interferon gamma signaling219.3×0.021HLA-B, HLA-DQA1
Biosynthesis of DHA-derived SPMs1146.4×0.026ALOX15
Biosynthesis of specialized proresolving mediators (SPMs)1146.4×0.026ALOX15
Interleukin-4 and Interleukin-13 signaling215.8×0.026GATA3, ALOX15
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling214.9×0.028IL33, IL1RL1
Choline catabolism1109.8×0.030SLC22A4
Interleukin-18 signaling1109.8×0.030IL18R1
Synthesis of 5-eicosatetraenoic acids197.6×0.032GPX4
Endosomal/Vacuolar pathway179.9×0.037HLA-B
Miscellaneous substrates173.2×0.038CYP2S1
CYP2E1 reactions173.2×0.038CYP2S1
SLC-mediated transport of organic cations158.6×0.041SLC22A4
R-HSA-549132158.6×0.041SLC22A4
Developmental Lineage of Mammary Stem Cells158.6×0.041GATA3
PIP3 activates AKT signaling210.3×0.041IL33, IL1RL1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 15 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
positive regulation of interleukin-5 production4374.5×6e-08IL33, TSLP, GATA3, IL1RL1
positive regulation of interleukin-13 production3224.7×4e-05IL33, TSLP, GATA3
regulation of interleukin-12 production2561.7×3e-04FOXP1, HLA-B
macrophage differentiation393.6×3e-04IL33, GATA3, IL1RL1
negative regulation of T-helper 1 type immune response2449.4×3e-04IL33, IL1RL1
negative regulation of type II interferon production376.6×3e-04IL33, GATA3, IL1RL1
positive regulation of chemokine production374.9×3e-04IL33, TSLP, IL1RL1
interleukin-33-mediated signaling pathway2280.9×7e-04IL33, IL1RL1
lipoxygenase pathway2204.3×0.001ALOX15, GPX4
positive regulation of macrophage activation2112.3×0.004IL33, IL1RL1
positive regulation of inflammatory response329.1×0.004IL33, TSLP, IL1RL1
response to lipopolysaccharide325.0×0.005SLC22A4, FOXP1, GPX4
immune response412.6×0.005HLA-B, HLA-DQA1, IL18R1, IL1RL1
positive regulation of interleukin-4 production274.9×0.006IL33, GATA3
arachidonate metabolic process264.2×0.008ALOX15, GPX4
sulfur amino acid transport11123.5×0.008SLC22A4
type IV hypersensitivity11123.5×0.008GATA3
positive regulation of cellular defense response11123.5×0.008IL33
positive regulation of chemokine (C-C motif) ligand 1 production11123.5×0.008TSLP
primary adaptive immune response involving T cells and B cells11123.5×0.008BACH2
negative regulation of macrophage proliferation11123.5×0.008IL33
regulation of engulfment of apoptotic cell11123.5×0.008ALOX15
regulation of macrophage colony-stimulating factor production11123.5×0.008FOXP1
obsolete negative regulation of cell proliferation involved in mesonephros development11123.5×0.008GATA3
regulation of cellular response to X-ray11123.5×0.008GATA3
obsolete negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation11123.5×0.008GATA3
obsolete negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation11123.5×0.008GATA3
long-chain fatty acid biosynthetic process259.1×0.008ALOX15, GPX4
adaptive immune response316.9×0.008HLA-B, HLA-DQA1, IL18R1
inflammatory response410.1×0.008GATA3, ALOX15, IL18R1, IL1RL1

Therapeutics

Drugs indicated or in trials for this disease

3 approved drugs — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugStatus
DupilumabApproved (phase 4)
Fluticasone PropionateApproved (phase 4)
Mometasone FuroateApproved (phase 4)

11 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

DrugHighest phase
BenralizumabPhase 3
DepemokimabPhase 3
FevipiprantPhase 3
MepolizumabPhase 3
PrednisonePhase 3
Tranexamic AcidPhase 3
Beclomethasone DipropionatePhase 2
BudesonidePhase 2
FurosemidePhase 2
MethylprednisolonePhase 2
OnabotulinumtoxinaPhase 2

Drug target analysis

Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 12

Druggability breadth: 12 of 15 evidence-associated genes (80%) 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.

SymbolExample approved molecule
CYP2S1PAZOPANIB
CFTRIVACAFTOR
ALOX15LEVODOPA

Top cohort targets by molecule count

SymbolMoleculesMax phase
ALOX151744
CFTR144
CYP2S114
SLC22A400
MYRF00
BACH200
IL3300
TSLP00
FOXP100
GATA300

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
PAZOPANIB4CYP2S1
IVACAFTOR4CFTR
LUMACAFTOR4CFTR
TEZACAFTOR4CFTR
ELEXACAFTOR4CFTR
GLYBURIDE4CFTR
LEVODOPA4ALOX15
CANDESARTAN CILEXETIL4ALOX15
DIENESTROL4ALOX15
CLOTRIMAZOLE4ALOX15
CHOLECALCIFEROL4ALOX15
AMINOCAPROIC ACID4ALOX15
FURAZOLIDONE4ALOX15
MIGALASTAT4ALOX15
RALOXIFENE HYDROCHLORIDE4ALOX15
CISPLATIN4ALOX15
RAMIPRIL4ALOX15
CELECOXIB4ALOX15
HYDROXYZINE PAMOATE4ALOX15
MALATHION4ALOX15
PYRITHIONE ZINC4ALOX15
AVOBENZONE4ALOX15
CHLOROXINE4ALOX15
DIBUCAINE HYDROCHLORIDE4ALOX15
FEXOFENADINE HYDROCHLORIDE4ALOX15
PHENOXYBENZAMINE HYDROCHLORIDE4ALOX15
CYCLOPHOSPHAMIDE4ALOX15
ETHOPROPAZINE HYDROCHLORIDE4ALOX15
PHENAZOPYRIDINE HYDROCHLORIDE4ALOX15
PROCHLORPERAZINE EDISYLATE4ALOX15

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 3.

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

SymbolAssaysType breakdown
CFTR520Binding:497, Functional:17, ADMET:5, Toxicity:1
ALOX15242Binding:236, Functional:5, ADMET:1
CYP2S1183ADMET:181, Binding:2
GPX4176Binding:176
SLC22A429Functional:26, ADMET:3
TSLP12Binding:12
BACH23Binding:3
HLA-DQA12Binding:2
IL331Binding:1
HLA-B1Binding:1

Cohort enzymes (BRENDA EC)

SymbolEC numbersNames
CFTR2.7.4.3, 5.6.1.6adenylate kinase, channel-conductance-controlling ATPase
ALOX151.13.11.31, 1.13.11.33arachidonate 12-lipoxygenase, arachidonate 15-lipoxygenase
GPX41.11.1.12phospholipid-hydroperoxide glutathione peroxidase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
CYP2S1183
CFTR520
ALOX15242
GPX4176

Pharmacogenomics

Cohort genes with a PharmGKB record: 15; with CPIC/DPWG dosing guidelines: 2.

Cohort genes with a CPIC/DPWG dosing guideline

SymbolCPIC guidelines
CFTR1
HLA-B1

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.

CompoundMax phaseCohort target (bioactivity)
PAZOPANIB4CYP2S1
IVACAFTOR4CFTR
LUMACAFTOR4CFTR
TEZACAFTOR4CFTR
ELEXACAFTOR4CFTR
GLYBURIDE4CFTR
LEVODOPA4ALOX15
CANDESARTAN CILEXETIL4ALOX15
DIENESTROL4ALOX15
CLOTRIMAZOLE4ALOX15
CHOLECALCIFEROL4ALOX15
AMINOCAPROIC ACID4ALOX15
FURAZOLIDONE4ALOX15
MIGALASTAT4ALOX15
RALOXIFENE HYDROCHLORIDE4ALOX15
CISPLATIN4ALOX15
RAMIPRIL4ALOX15
CELECOXIB4ALOX15
HYDROXYZINE PAMOATE4ALOX15
MALATHION4ALOX15
PYRITHIONE ZINC4ALOX15
AVOBENZONE4ALOX15
CHLOROXINE4ALOX15
DIBUCAINE HYDROCHLORIDE4ALOX15
FEXOFENADINE HYDROCHLORIDE4ALOX15
PHENOXYBENZAMINE HYDROCHLORIDE4ALOX15
CYCLOPHOSPHAMIDE4ALOX15
ETHOPROPAZINE HYDROCHLORIDE4ALOX15
PHENAZOPYRIDINE HYDROCHLORIDE4ALOX15
PROCHLORPERAZINE EDISYLATE4ALOX15

Druggability pyramid

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

TierDefinitionGenesSymbols
AApproved (phase 4 drug)3CYP2S1, CFTR, ALOX15
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug5GPX4, HLA-B, HLA-DQA1, IL18R1, IL1RL1
DDruggable family + AlphaFold only, no drug1SLC22A4
EDifficult family or no structure, no drug6MYRF, BACH2, IL33, TSLP, FOXP1, GATA3

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
GPX4176—
SLC22A429—
MYRF0—
BACH23—
IL331—
TSLP12—
FOXP10—
GATA30—
HLA-B1—
HLA-DQA12—
IL18R10—
IL1RL10—

Clinical trials & evidence

Clinical trials

Clinical trials: 95.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified44
PHASE319
PHASE214
PHASE411
PHASE2/PHASE33
PHASE12
PHASE1/PHASE21
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05094570PHASE4RECRUITINGInterleukin-4Ra Blockade by Dupilumab Decreases Staphylococcus Colonization and Increases Microbial Diversity in CRSwNP
NCT06750471PHASE4ACTIVE_NOT_RECRUITINGDupixent Study for Alternate Administration
NCT06824649PHASE4NOT_YET_RECRUITINGBiologics in Chronic Rhinosinusitis With Nasal Polyposis
NCT07268313PHASE4RECRUITINGComplete Remission After Treatment With Biologics for Nasal Polyps
NCT00788749PHASE4COMPLETEDMedical Polypectomy and Predictors of Response
NCT00841802PHASE4WITHDRAWNChronic Rhinosinusitis With or Without Nasal Polyps Steroid Study
NCT01616160PHASE4TERMINATEDAn Open-label Study to Identify Molecular Markers of Steroid Resistance
NCT02110654PHASE4COMPLETEDComparison of Daily Mometasone Furoate Nasal Spray Alone Versus a Combination With Montelukast for Treatment of Chronic Rhinosinusitis With Asthma After Functional Endoscopic Sinus Surgery
NCT02484859PHASE4COMPLETEDComparison of Metoprolol and Tramadol With Remifentanil in Endoscopic Sinus Surgery
NCT03228914PHASE4COMPLETEDComparing Blood Loss and Visualization After the Preoperative Use of Topical 0.05% Oxymetazoline Versus 1:1000 Epinephrine Prior to Endoscopic Sinus Surgery
NCT05405478PHASE4UNKNOWNOmalizumab Efficacy in Patients With Refractory Nasal Polyps
NCT06639295PHASE3ACTIVE_NOT_RECRUITINGA Study to Evaluate 611 in Patients With Chronic Rhinosinusitis With Nasal Polyps
NCT00378378PHASE3COMPLETEDStudy of Nasonex® for the Treatment of Nasal Polyps in Pediatric Subjects Between Ages of 6 and Less Than 18 Years Old (P04292)
NCT00440219PHASE3COMPLETEDThe Effect of Preoperative Oral Prednisone on the Operative Field During Nasal Polypectomy.
NCT00731185PHASE3COMPLETEDMometasone Furoate Nasal Spray for Treatment of Nasal Polyposis After Surgery (Study P03218)
NCT01386125PHASE3COMPLETEDA Study of the Effectiveness and Safety of Mometasone Furoate Nasal Spray (MFNS, SCH 032088) for the Treatment of Nasal Polyps (P05604)
NCT01623310PHASE3COMPLETED12-Month OL Intranasal Fluticasone Propionate BID Using OptiNose Device
NCT01732536PHASE2/PHASE3COMPLETEDSteroid-Releasing S8 Sinus Implant for Recurrent Nasal Polyps
NCT02024659PHASE2/PHASE3COMPLETEDEffects and Safety of Budesonide Inhalation Suspension Via Transnasal Nebulization in Nasal Polyps
NCT03085797PHASE3COMPLETEDEffect of Mepolizumab in Severe Bilateral Nasal Polyps
NCT03280537PHASE3COMPLETEDA Clinical Trial of Omalizumab in Participants With Chronic Rhinosinusitus With Nasal Polyps
NCT03280550PHASE3COMPLETEDA Clinical Trial of Omalizumab in Participants With Chronic Rhinosinusitis With Nasal Polyps
NCT03472144PHASE3UNKNOWNGel-Sinuplasty for Chronic Rhinosinusitis With and Without Nasal Polyposis
NCT03478930PHASE3COMPLETEDAn Extension Study of Omalizumab in Participants With Chronic Rhinosinusitis With Nasal Polyps
NCT03607175PHASE2/PHASE3UNKNOWNAdjunctive Treatment for Chronic Rhinosinusitis With Nasal Polyposis
NCT03681093PHASE3COMPLETEDStudy of Efficacy of Fevipiprant in Patients With Nasal Polyposis and Asthma
NCT03965767PHASE3UNKNOWNDoes The Combined Use Of Local And Intravenous Tranexamic Acid Offer Better Surgical Field Quality During Functional Endoscopic Sinus Surgery? A Placebo-Controlled Clinical Trial
NCT04185012PHASE3COMPLETEDNAsal Polyps: Inflammatory & Molecular Phenotyping of Responders to Benralizumab
NCT04607005PHASE3COMPLETEDEfficacy and Safety of Mepolizumab in Adults With Chronic Rhinosinusitis With Nasal Polyps (CRSwNP)/ Eosinophilic Chronic Rhinosinusitis (ECRS)
NCT05157412PHASE3COMPLETEDRole of Doxycycline in Chronic Rhinosinusitis With Nasal Polyps
NCT05274750PHASE3COMPLETEDEfficacy and Safety of Depemokimab (GSK3511294) in Participants With Chronic Rhinosinusitis With Nasal Polyps
NCT05281523PHASE3COMPLETEDEfficacy and Safety of Depemokimab (GSK3511294) in Participants With Chronic Rhinosinusitis With Nasal Polyps (ANCHOR-2)
NCT06461949PHASE3WITHDRAWNStudy of Dupilumab 300 mg Every Other Week After Endoscopic Sinus Surgery in Patients With Allergic Fungal Rhinosinusitis (AFRS) on a Background Therapy With Intranasal Corticosteroid Spray
NCT05575037PHASE2ACTIVE_NOT_RECRUITINGMechanisms of Benefit of IL4RA Inhibition in Aspirin-Exacerbated Respiratory Disease
NCT00465543PHASE2COMPLETEDMint Tea for the Treatment of Nasal Polyps
NCT00788463PHASE2COMPLETEDA Comparison of Beclomethasone Aqueous Spray and Aerosol Delivery Systems in Nasal Polyps
NCT01066104PHASE2COMPLETEDSubcutaneous Omalizumab for Treatment of Chronic Rhinosinusitis With Nasal Polyposis
NCT01198912PHASE2COMPLETEDInfluence of Oral Doxycycline on Wound Healing After Endonasal Endoscopic Sinus Surgery for Chronic Rhinosinusitis With and Without Nasal Polyposis: a Double-blind Randomized Placebo-controlled Trial
NCT01222871PHASE1/PHASE2TERMINATEDTreatment of Early Nasal Polyposis With Topical Triamcinolone
NCT01362244PHASE2COMPLETEDMepolizumab in Nasal Polyposis

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
OMALIZUMAB44
MEPOLIZUMAB43
MONTELUKAST43
OXYMETAZOLINE43
BENRALIZUMAB42
DUPILUMAB42
METOPROLOL42
MOMETASONE FUROATE42
PREDNISOLONE42
VERAPAMIL42
EPINEPHRINE41
KETAMINE HYDROCHLORIDE41
PREDNISONE41
REMIFENTANIL41
RESLIZUMAB41
TRAMADOL41
TRIAMCINOLONE41
DEPEMOKIMAB32
FEVIPIPRANT31
STAPOKIBART31
DEXVERAPAMIL21
IFETROBAN21
RACEPINEPHRINE21
THYMOQUINONE21
CHEMBL1572001
CHEMBL520512701
CHEMBL405972201
(R,R)-TRAMADOL01
1701

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 72

This page pulls from 72 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd10cmintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpatentpatent_compoundpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptuberonufeatureumlsuniprot