Inherited susceptibility to asthma
diseaseOn this page
Also known as asthma, nocturnal, susceptibility to
Summary
Inherited susceptibility to asthma (MONDO:0010940) is a disease (an umbrella term covering 9 Mondo subtypes) with 11 cohort genes. The dominant Reactome pathway is Interleukin-4 and Interleukin-13 signaling (5 cohort genes).
At a glance
- Umbrella term: 9 Mondo subtypes
- Cohort genes: 11
- ClinVar variants: 13
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | inherited susceptibility to asthma |
| Mondo ID | MONDO:0010940 |
| OMIM | 600807 |
| UMLS | C1869116 |
| MedGen | 358271 |
| Is cancer (heuristic) | no |
Also known as: asthma, nocturnal, susceptibility to
Data availability: 13 ClinVar variants · 2 GenCC gene-disease records.
Disease family
An umbrella term covering 9 Mondo subtypes.
Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma
Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, focal segmental glomerulosclerosis 3, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, epilepsy, childhood absence, susceptibility to, 6, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, malaria, susceptibility to, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, pulmonary disease, chronic obstructive, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, gallbladder disease 4, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder
Subtypes (9): asthma-related traits, susceptibility to, 1, asthma-related traits, susceptibility to, 2, asthma-related traits, susceptibility to, 3, asthma-related traits, susceptibility to, 4, asthma-related traits, susceptibility to, 5, asthma-related traits, susceptibility to, 6, asthma-related traits, susceptibility to, 7, asthma-related traits, susceptibility to, 8, asthma, aspirin-induced, susceptibility to
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
13 retrieved; paginated sample, class counts are floors:
4 uncertain significance, 3 risk factor, 2 conflicting classifications of pathogenicity, 2 benign; risk factor, 1 drug response, 1 established risk allele
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 8368 | NC_000017.11:g.34274816GAGAAG[9] | CCL11 | risk factor | no assertion criteria provided |
| 5160 | NM_006895.3(HNMT):c.314C>T (p.Thr105Ile) | HNMT | Benign; risk factor | no assertion criteria provided |
| 14672 | NM_001354991.2(IL13):c.-93+487C>T | IL13 | risk factor | no assertion criteria provided |
| 14673 | NM_002188.3(IL13):c.431A>G (p.Gln144Arg) | IL13 | Benign; risk factor | no assertion criteria provided |
| 4528335 | NM_000963.4(PTGS2):c.-1290C>T | PTGS2 | Established risk allele | no assertion criteria provided |
| 4253 | NC_000005.10:g.147878599G>A | SCGB3A2 | risk factor | no assertion criteria provided |
| 225964 | NC_000006.12:g.31575254G>A | TNF | drug response | reviewed by expert panel |
| 445774 | NM_006895.3(HNMT):c.475del (p.His159fs) | HNMT | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 134553 | NM_004972.4(JAK2):c.2538G>C (p.Glu846Asp) | INSL6 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 2502178 | NM_006895.3(HNMT):c.137+2287G>A | HNMT | Uncertain significance | criteria provided, single submitter |
| 14055 | IL12B, 4237G-A | IL12B | Uncertain significance | no assertion criteria provided |
| 12253 | NM_003357.5(SCGB1A1):c.-38= | SCGB1A1 | Uncertain significance | no assertion criteria provided |
| 3892678 | NM_000594.4(TNF):c.248C>A (p.Thr83Asn) | TNF | Uncertain significance | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 2 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| ADRB2 | Limited | Autosomal dominant | inherited susceptibility to asthma | |
| MUC7 | Limited | Autosomal dominant | inherited susceptibility to asthma |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| HNMT | Orphanet:88616 | Autosomal recessive non-syndromic intellectual disability |
| IL12B | Orphanet:319558 | Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency |
| IL12B | Orphanet:3287 | Takayasu arteritis |
Cohort genes → proteins
11 cohort genes, 11 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 11 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| ADRB2 | HGNC:286 | ENSG00000169252 | P07550 | Beta-2 adrenergic receptor | gencc |
| MUC7 | HGNC:7518 | ENSG00000171195 | Q8TAX7 | Mucin-7 | gencc |
| CCL11 | HGNC:10610 | ENSG00000172156 | P51671 | Eotaxin | clinvar |
| TNF | HGNC:11892 | ENSG00000232810 | P01375 | Tumor necrosis factor | clinvar |
| SCGB1A1 | HGNC:12523 | ENSG00000149021 | P11684 | Uteroglobin | clinvar |
| SCGB3A2 | HGNC:18391 | ENSG00000164265 | Q96PL1 | Secretoglobin family 3A member 2 | clinvar |
| HNMT | HGNC:5028 | ENSG00000150540 | P50135 | Histamine N-methyltransferase | clinvar |
| IL12B | HGNC:5970 | ENSG00000113302 | P29460 | Interleukin-12 subunit beta | clinvar |
| IL13 | HGNC:5973 | ENSG00000169194 | P35225 | Interleukin-13 | clinvar |
| INSL6 | HGNC:6089 | ENSG00000120210 | Q9Y581 | Insulin-like peptide INSL6 | clinvar |
| PTGS2 | HGNC:9605 | ENSG00000073756 | P35354 | Prostaglandin G/H synthase 2 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| ADRB2 | Beta-2 adrenergic receptor | G protein-coupled receptor for catecholamines that couples to both G(s) and G(i) proteins, activating bifurcated signaling pathways. |
| MUC7 | Mucin-7 | May function in a protective capacity by promoting the clearance of bacteria in the oral cavity and aiding in mastication, speech, and swallowing. |
| CCL11 | Eotaxin | Chemokine that plays a central role in both allergic and non-allergic inflammatory reactions by inducing the migration of different leukocyte types including eosinophils, basophils, macrophages and dendritic cells. |
| TNF | Tumor necrosis factor | Cytokine that binds to TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. |
| SCGB1A1 | Uteroglobin | Binds phosphatidylcholine, phosphatidylinositol, polychlorinated biphenyls (PCB) and weakly progesterone, potent inhibitor of phospholipase A2. |
| SCGB3A2 | Secretoglobin family 3A member 2 | Secreted cytokine-like protein. |
| HNMT | Histamine N-methyltransferase | Inactivates histamine by N-methylation. |
| IL12B | Interleukin-12 subunit beta | Cytokine that can act as a growth factor for activated T and NK cells, enhance the lytic activity of NK/lymphokine-activated killer cells, and stimulate the production of IFN-gamma by resting PBMC. |
| IL13 | Interleukin-13 | Cytokine that plays important roles in allergic inflammation and immune response to parasite infection. |
| INSL6 | Insulin-like peptide INSL6 | May have a role in sperm development and fertilization. |
| PTGS2 | Prostaglandin G/H synthase 2 | Dual cyclooxygenase and peroxidase in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in the inflammatory respon… |
Protein-family classification
Druggable: 4 · Difficult: 0 · Unknown: 7 · Druggable fraction: 0.36
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 2.6× | 0.419 |
| Enzyme (other) | 2 | 2.2× | 0.419 |
| GPCR | 1 | 2.2× | 0.419 |
| Other/Unknown | 7 | 1.1× | 0.419 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| ADRB2 | GPCR | yes | GPCR_Rhodpsn, ADRB2_rcpt, ADR_fam | |
| MUC7 | Other/Unknown | no | MUC7 | |
| CCL11 | Other/Unknown | no | Chemokine_CC_CS, Chemokine_IL8-like_dom, Interleukin_8-like_sf | |
| TNF | Other/Unknown | no | TNF_alpha, TNF_dom, TNF | |
| SCGB1A1 | Other/Unknown | no | Uteroglobin, Secretoglobin, Secretoglobin_sf | |
| SCGB3A2 | Other/Unknown | no | Secretoglobin_3A | |
| HNMT | Enzyme (other) | yes | 2.1.1.8 | HHMT-like, SAM-dependent_MTases_sf |
| IL12B | Antibody/Immunoglobulin | yes | Hematopoietin_rcpt_L_F3_CS, Ig_sub2, FN3_dom | |
| IL13 | Other/Unknown | no | IL-4/IL-13, 4_helix_cytokine-like_core, IL-4/IL-13_CS | |
| INSL6 | Other/Unknown | no | Insulin-like, Insulin-like_pep_6, Insulin_CS | |
| PTGS2 | Enzyme (other) | yes | 1.14.99.1 | EGF, Haem_peroxidase_sf, Haem_peroxidase_animal |
Expression context
Cohort genes with no expression data: 0.
11 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) | 11 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| cartilage tissue | 2 |
| granulocyte | 2 |
| trachea | 2 |
| male germ line stem cell (sensu Vertebrata) in testis | 2 |
| right lung | 2 |
| left testis | 2 |
| right testis | 2 |
| upper leg skin | 1 |
| parotid gland | 1 |
| saliva-secreting gland | 1 |
| caecum | 1 |
| cardia of stomach | 1 |
| pylorus | 1 |
| bone marrow | 1 |
| bronchial epithelial cell | 1 |
| epithelium of bronchus | 1 |
| lower lobe of lung | 1 |
| gall bladder | 1 |
| monocyte | 1 |
| mononuclear cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| ADRB2 | 242 | ubiquitous | marker | cartilage tissue, granulocyte, upper leg skin |
| MUC7 | 155 | tissue_specific | marker | trachea, parotid gland, saliva-secreting gland |
| CCL11 | 128 | broad | marker | pylorus, cardia of stomach, caecum |
| TNF | 119 | broad | marker | granulocyte, male germ line stem cell (sensu Vertebrata) in testis, bone marrow |
| SCGB1A1 | 170 | tissue_specific | marker | bronchial epithelial cell, epithelium of bronchus, right lung |
| SCGB3A2 | 154 | tissue_specific | marker | trachea, right lung, lower lobe of lung |
| HNMT | 289 | ubiquitous | marker | gall bladder, monocyte, mononuclear cell |
| IL12B | 33 | tissue_specific | marker | primordial germ cell in gonad, decidua, hair follicle |
| IL13 | 128 | tissue_specific | marker | left testis, right testis, testis |
| INSL6 | 152 | tissue_specific | marker | male germ line stem cell (sensu Vertebrata) in testis, left testis, right testis |
| PTGS2 | 249 | ubiquitous | marker | seminal vesicle, cartilage tissue, mucosa of urinary bladder |
Protein interactions among cohort
Intra-cohort edges: 6.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TNF | 11,116 |
| PTGS2 | 5,663 |
| ADRB2 | 3,598 |
| IL13 | 3,427 |
| SCGB1A1 | 1,197 |
| HNMT | 1,166 |
| MUC7 | 973 |
| IL12B | 804 |
| SCGB3A2 | 553 |
| INSL6 | 509 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| HNMT | SCGB3A2 | string_interaction |
| IL12B | TNF | string_interaction |
| IL13 | TNF | string_interaction |
| MUC7 | SCGB3A2 | string_interaction |
| PTGS2 | TNF | string_interaction |
| SCGB1A1 | SCGB3A2 | string_interaction |
Structural data
PDB: 8 · AlphaFold-only: 3 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| ADRB2 | P07550 | 145 |
| TNF | P01375 | 52 |
| IL12B | P29460 | 20 |
| IL13 | P35225 | 13 |
| HNMT | P50135 | 7 |
| PTGS2 | P35354 | 7 |
| CCL11 | P51671 | 4 |
| SCGB1A1 | P11684 | 2 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SCGB3A2 | Q96PL1 | 74.66 |
| MUC7 | Q8TAX7 | 55.60 |
| INSL6 | Q9Y581 | 54.46 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 58. Enrichment computed across 11 evidence-associated genes (9 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 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Interleukin-4 and Interleukin-13 signaling | 5 | 57.2× | 6e-07 | CCL11, TNF, IL12B, IL13, PTGS2 |
| Interleukin-10 signaling | 3 | 77.7× | 2e-04 | TNF, IL12B, PTGS2 |
| Biosynthesis of electrophilic ω-3 PUFA oxo-derivatives | 1 | 634.4× | 0.030 | PTGS2 |
| Biosynthesis of EPA-derived SPMs | 1 | 317.2× | 0.031 | PTGS2 |
| Biosynthesis of DPAn-3 SPMs | 1 | 317.2× | 0.031 | PTGS2 |
| Synthesis of 15-eicosatetraenoic acid derivatives | 1 | 211.5× | 0.031 | PTGS2 |
| TNFR1-mediated ceramide production | 1 | 211.5× | 0.031 | TNF |
| Biosynthesis of DHA-derived SPMs | 1 | 211.5× | 0.031 | PTGS2 |
| Metabolism of ingested SeMet, Sec, MeSec into H2Se | 1 | 158.6× | 0.031 | HNMT |
| Interleukin-18 signaling | 1 | 158.6× | 0.031 | IL13 |
| Adrenoceptors | 1 | 141.0× | 0.031 | ADRB2 |
| Interleukin-23 signaling | 1 | 141.0× | 0.031 | IL12B |
| Histidine catabolism | 1 | 126.9× | 0.031 | HNMT |
| Class A/1 (Rhodopsin-like receptors) | 2 | 16.5× | 0.031 | CCL11, ADRB2 |
| GPCR ligand binding | 2 | 14.3× | 0.031 | CCL11, ADRB2 |
| Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells) | 1 | 97.6× | 0.037 | TNF |
| Synthesis of Prostaglandins (PG) and Thromboxanes (TX) | 1 | 84.6× | 0.038 | PTGS2 |
| Defective GALNT3 causes HFTC | 1 | 79.3× | 0.038 | MUC7 |
| Defective GALNT12 causes CRCS1 | 1 | 79.3× | 0.038 | MUC7 |
| Defective C1GALT1C1 causes TNPS | 1 | 74.6× | 0.039 | MUC7 |
| Scavenging by Class A Receptors | 1 | 66.8× | 0.041 | SCGB3A2 |
| Binding and Uptake of Ligands by Scavenger Receptors | 1 | 60.4× | 0.043 | SCGB3A2 |
| Termination of O-glycan biosynthesis | 1 | 55.2× | 0.045 | MUC7 |
| TNFR1-induced proapoptotic signaling | 1 | 48.8× | 0.045 | TNF |
| Dectin-2 family | 1 | 47.0× | 0.045 | MUC7 |
| TNF signaling | 1 | 47.0× | 0.045 | TNF |
| Interleukin-12 signaling | 1 | 45.3× | 0.045 | IL12B |
| Signaling by GPCR | 2 | 8.9× | 0.045 | CCL11, ADRB2 |
| Amine ligand-binding receptors | 1 | 38.5× | 0.050 | ADRB2 |
| TNFR1-induced NF-kappa-B signaling pathway | 1 | 37.3× | 0.050 | TNF |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 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 fever generation | 2 | 936.2× | 5e-04 | TNF, PTGS2 |
| response to nematode | 2 | 416.1× | 0.002 | IL13, PTGS2 |
| response to selenium ion | 2 | 312.1× | 0.002 | IL13, PTGS2 |
| microglial cell activation | 2 | 138.7× | 0.006 | TNF, IL13 |
| negative regulation of neurogenesis | 2 | 138.7× | 0.006 | CCL11, TNF |
| positive regulation of osteoclast differentiation | 2 | 129.1× | 0.006 | TNF, IL12B |
| histamine catabolic process | 1 | 1872.4× | 0.006 | HNMT |
| positive regulation of translational initiation by iron | 1 | 1872.4× | 0.006 | TNF |
| negative regulation of branching involved in lung morphogenesis | 1 | 1872.4× | 0.006 | TNF |
| positive regulation of mini excitatory postsynaptic potential | 1 | 1872.4× | 0.006 | ADRB2 |
| cellular response to non-ionic osmotic stress | 1 | 1872.4× | 0.006 | PTGS2 |
| negative regulation of bile acid secretion | 1 | 1872.4× | 0.006 | TNF |
| response to Gram-negative bacterium | 1 | 1872.4× | 0.006 | TNF |
| positive regulation of interleukin-33 production | 1 | 1872.4× | 0.006 | TNF |
| negative regulation of lung ciliated cell differentiation | 1 | 1872.4× | 0.006 | IL13 |
| positive regulation of lung goblet cell differentiation | 1 | 1872.4× | 0.006 | IL13 |
| response to 3,3’,5-triiodo-L-thyronine | 1 | 1872.4× | 0.006 | TNF |
| positive regulation of pancreatic stellate cell proliferation | 1 | 1872.4× | 0.006 | IL13 |
| positive regulation of immunoglobulin production | 2 | 107.0× | 0.006 | TNF, IL13 |
| positive regulation of nitric oxide biosynthetic process | 2 | 101.2× | 0.006 | TNF, PTGS2 |
| brown fat cell differentiation | 2 | 96.0× | 0.006 | ADRB2, PTGS2 |
| positive regulation of interleukin-10 production | 2 | 89.2× | 0.006 | IL12B, IL13 |
| cellular response to amyloid-beta | 2 | 87.1× | 0.006 | TNF, ADRB2 |
| T cell proliferation | 2 | 85.1× | 0.006 | SCGB1A1, IL12B |
| embryo implantation | 2 | 78.0× | 0.006 | SCGB1A1, PTGS2 |
| positive regulation of smooth muscle cell proliferation | 2 | 73.4× | 0.006 | TNF, IL13 |
| response to glucocorticoid | 2 | 72.0× | 0.006 | TNF, SCGB1A1 |
| cell surface receptor signaling pathway via JAK-STAT | 2 | 64.6× | 0.006 | TNF, IL12B |
| positive regulation of cell adhesion | 2 | 60.4× | 0.006 | TNF, IL12B |
| positive regulation of non-canonical NF-kappaB signal transduction | 2 | 56.7× | 0.006 | TNF, IL12B |
Therapeutics
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 8
Druggability breadth: 7 of 11 evidence-associated genes (64%) 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 |
|---|---|
| ADRB2 | LABETALOL HYDROCHLORIDE |
| TNF | PREDNISOLONE |
| PTGS2 | CELECOXIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PTGS2 | 192 | 4 |
| ADRB2 | 166 | 4 |
| TNF | 12 | 4 |
| MUC7 | 0 | 0 |
| CCL11 | 0 | 0 |
| SCGB1A1 | 0 | 0 |
| SCGB3A2 | 0 | 0 |
| HNMT | 0 | 0 |
| IL12B | 0 | 0 |
| IL13 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| LABETALOL HYDROCHLORIDE | 4 | ADRB2 |
| PHENYLEPHRINE | 4 | ADRB2 |
| NOREPINEPHRINE | 4 | ADRB2, PTGS2 |
| PROPRANOLOL HYDROCHLORIDE | 4 | ADRB2 |
| SOTALOL HYDROCHLORIDE | 4 | ADRB2 |
| PROPRANOLOL | 4 | ADRB2 |
| ISOPROTERENOL | 4 | ADRB2 |
| SOTALOL | 4 | ADRB2 |
| PRACTOLOL | 4 | ADRB2 |
| LEVOSALBUTAMOL | 4 | ADRB2 |
| CANDESARTAN CILEXETIL | 4 | ADRB2, PTGS2 |
| CLOTRIMAZOLE | 4 | ADRB2, PTGS2 |
| SALMETEROL XINAFOATE | 4 | ADRB2 |
| INDACATEROL | 4 | ADRB2 |
| ARIPIPRAZOLE | 4 | ADRB2 |
| AMOXAPINE | 4 | ADRB2 |
| DESLORATADINE | 4 | ADRB2 |
| VILANTEROL | 4 | ADRB2, PTGS2 |
| TIOCONAZOLE | 4 | ADRB2 |
| DIHYDROERGOTAMINE MESYLATE | 4 | ADRB2 |
| DIPIVEFRIN HYDROCHLORIDE | 4 | ADRB2 |
| ISOETHARINE MESYLATE | 4 | ADRB2 |
| ISOETHARINE | 4 | ADRB2, PTGS2 |
| LEVOBUNOLOL | 4 | ADRB2 |
| RIBOFLAVIN 5’-PHOSPHATE | 4 | ADRB2, PTGS2 |
| FORMOTEROL | 4 | ADRB2 |
| EPINEPHRINE BITARTRATE | 4 | ADRB2 |
| SALMETEROL | 4 | ADRB2 |
| MIFEPRISTONE | 4 | ADRB2 |
| METOPROLOL | 4 | ADRB2 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| PTGS2 | 1,548 | Binding:1478, Functional:35, ADMET:34, Toxicity:1 |
| ADRB2 | 1,026 | Binding:596, Functional:423, ADMET:7 |
| TNF | 193 | Binding:162, Functional:31 |
| HNMT | 9 | Binding:7, ADMET:2 |
| CCL11 | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| HNMT | 2.1.1.8 | histamine N-methyltransferase |
| PTGS2 | 1.14.99.1 | prostaglandin-endoperoxide synthase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| ADRB2 | 1,026 |
| TNF | 193 |
| PTGS2 | 1,548 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 11; with CPIC/DPWG dosing guidelines: 1.
Cohort genes with a CPIC/DPWG dosing guideline
| Symbol | CPIC guidelines |
|---|---|
| ADRB2 | 1 |
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) |
|---|---|---|
| LABETALOL HYDROCHLORIDE | 4 | ADRB2 |
| PHENYLEPHRINE | 4 | ADRB2 |
| NOREPINEPHRINE | 4 | ADRB2, PTGS2 |
| PROPRANOLOL HYDROCHLORIDE | 4 | ADRB2 |
| SOTALOL HYDROCHLORIDE | 4 | ADRB2 |
| PROPRANOLOL | 4 | ADRB2 |
| ISOPROTERENOL | 4 | ADRB2 |
| SOTALOL | 4 | ADRB2 |
| PRACTOLOL | 4 | ADRB2 |
| LEVOSALBUTAMOL | 4 | ADRB2 |
| CANDESARTAN CILEXETIL | 4 | ADRB2, PTGS2 |
| CLOTRIMAZOLE | 4 | ADRB2, PTGS2 |
| SALMETEROL XINAFOATE | 4 | ADRB2 |
| INDACATEROL | 4 | ADRB2 |
| ARIPIPRAZOLE | 4 | ADRB2 |
| AMOXAPINE | 4 | ADRB2 |
| DESLORATADINE | 4 | ADRB2 |
| VILANTEROL | 4 | ADRB2, PTGS2 |
| TIOCONAZOLE | 4 | ADRB2 |
| DIHYDROERGOTAMINE MESYLATE | 4 | ADRB2 |
| DIPIVEFRIN HYDROCHLORIDE | 4 | ADRB2 |
| ISOETHARINE MESYLATE | 4 | ADRB2 |
| ISOETHARINE | 4 | ADRB2, PTGS2 |
| LEVOBUNOLOL | 4 | ADRB2 |
| RIBOFLAVIN 5’-PHOSPHATE | 4 | ADRB2, PTGS2 |
| FORMOTEROL | 4 | ADRB2 |
| EPINEPHRINE BITARTRATE | 4 | ADRB2 |
| SALMETEROL | 4 | ADRB2 |
| MIFEPRISTONE | 4 | ADRB2 |
| METOPROLOL | 4 | ADRB2 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 3 | ADRB2, TNF, PTGS2 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 2 | HNMT, IL12B |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 6 | MUC7, CCL11, SCGB1A1, SCGB3A2, IL13, INSL6 |
Undrugged target profiles
8 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| MUC7 | 0 | — |
| CCL11 | 1 | — |
| SCGB1A1 | 0 | — |
| SCGB3A2 | 0 | — |
| HNMT | 9 | — |
| IL12B | 0 | — |
| IL13 | 0 | — |
| INSL6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.