Asthma, aspirin-induced, susceptibility to

Summary

Asthma, aspirin-induced, susceptibility to (MONDO:0800415) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	asthma, aspirin-induced, susceptibility to
Mondo ID	MONDO:0800415
UMLS	C1876174
MedGen	362637
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma › asthma, aspirin-induced, susceptibility to

Related subtypes (8): 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

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

2 retrieved; paginated sample, class counts are floors:

1 risk factor, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
13360	NC_000014.9:g.52300623G>A	PTGER2	risk factor	no assertion criteria provided
5321	NM_013351.2(TBX21):c.-1993T>C	LOC109286563	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PTGER2	HGNC:9594	ENSG00000125384	P43116	Prostaglandin E2 receptor EP2 subtype	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PTGER2	Prostaglandin E2 receptor EP2 subtype	Receptor for prostaglandin E2 (PGE2).

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
GPCR	1	23.9×	0.042

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PTGER2	GPCR	yes		GPCR_Rhodpsn, Prostglndn_EP2_rcpt, Prostanoid_rcpt

Expression context

Cohort genes with no expression data: 0.

1 cohort gene 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)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	1
leukocyte	1
monocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PTGER2	178	broad	marker	granulocyte, leukocyte, monocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PTGER2	942

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTGER2	P43116	5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 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 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Prostanoid ligand receptors	1	1268.9×	0.002	PTGER2
G alpha (s) signalling events	1	73.2×	0.014	PTGER2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
response to nematode	1	1872.4×	0.005	PTGER2
cellular response to prostaglandin E stimulus	1	842.6×	0.005	PTGER2
response to progesterone	1	495.6×	0.006	PTGER2
response to lipopolysaccharide	1	124.8×	0.011	PTGER2
positive regulation of cytosolic calcium ion concentration	1	117.0×	0.011	PTGER2
regulation of cell population proliferation	1	115.4×	0.011	PTGER2
adenylate cyclase-activating G protein-coupled receptor signaling pathway	1	113.1×	0.011	PTGER2
inflammatory response	1	37.7×	0.028	PTGER2
G protein-coupled receptor signaling pathway	1	36.2×	0.028	PTGER2

Therapeutics

Drug target analysis

Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
PTGER2	TREPROSTINIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PTGER2	16	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TREPROSTINIL	4	PTGER2
LAROPIPRANT	4	PTGER2
OMIDENEPAG ISOPROPYL	4	PTGER2
ILOPROST	4	PTGER2
DINOPROSTONE	4	PTGER2
SETIPIPRANT	3	PTGER2
RALINEPAG	3	PTGER2
PINADOLINE	2	PTGER2
TAPRENEPAG ISOPROPYL	2	PTGER2
TAPRENEPAG	2	PTGER2
CLOPROSTENOL	2	PTGER2
BUTAPROST	2	PTGER2
PALUPIPRANT	2	PTGER2
OMIDENEPAG	2	PTGER2
EVATANEPAG	2	PTGER2
PF-04418948	1	PTGER2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
PTGER2	219	Binding:162, Functional:57

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
PTGER2	219

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

16 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)
TREPROSTINIL	4	PTGER2
LAROPIPRANT	4	PTGER2
OMIDENEPAG ISOPROPYL	4	PTGER2
ILOPROST	4	PTGER2
DINOPROSTONE	4	PTGER2
SETIPIPRANT	3	PTGER2
RALINEPAG	3	PTGER2
PINADOLINE	2	PTGER2
TAPRENEPAG ISOPROPYL	2	PTGER2
TAPRENEPAG	2	PTGER2
CLOPROSTENOL	2	PTGER2
BUTAPROST	2	PTGER2
PALUPIPRANT	2	PTGER2
OMIDENEPAG	2	PTGER2
EVATANEPAG	2	PTGER2
PF-04418948	1	PTGER2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PTGER2
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.