Asthma-related traits, susceptibility to, 1

Summary

Asthma-related traits, susceptibility to, 1 (MONDO:0011805) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	asthma-related traits, susceptibility to, 1
Mondo ID	MONDO:0011805
OMIM	607277
UMLS	C1846534
MedGen	339547
Is cancer (heuristic)	no

Also known as: AS1 · ASRT1 · asthma, susceptibility to, 1 · asthma-related traits, susceptibility to, 1 · asthma-related traits, susceptibility to, type 1 · inherited susceptibility to asthma caused by mutation in PTGDR · PTGDR inherited susceptibility to asthma

Data availability: 3 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to asthma › asthma-related traits, susceptibility to, 1

Related subtypes (8): 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

3 retrieved; paginated sample, class counts are floors:

1 risk factor, 1 uncertain significance, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
3767256	PTGDR, HAPLOTYPE CCC	PTGDR	risk factor	no assertion criteria provided
4277926	NM_000953.3(PTGDR):c.340T>C (p.Phe114Leu)	PTGDR	Uncertain significance	criteria provided, single submitter
5405	NM_000953.3(PTGDR):c.[-197=;-441T>C-549=]		not provided	no classification provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · Orphanet: 0 · 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
PTGDR	Limited	Autosomal dominant	asthma-related traits, susceptibility to, 1

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
PTGDR	HGNC:9591	ENSG00000168229	Q13258	Prostaglandin D2 receptor	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PTGDR	Prostaglandin D2 receptor	Receptor for prostaglandin D2 (PGD2).

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)
PTGDR	GPCR	yes		GPCR_Rhodpsn, Pglndn_D_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
mucosa of transverse colon	1
rectum	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PTGDR	169	broad	marker	granulocyte, mucosa of transverse colon, rectum

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PTGDR	1,456

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PTGDR	Q13258	8

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	PTGDR
G alpha (s) signalling events	1	73.2×	0.014	PTGDR

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
sleep	1	2407.4×	0.001	PTGDR
adenosine metabolic process	1	2407.4×	0.001	PTGDR
cellular response to prostaglandin D stimulus	1	2407.4×	0.001	PTGDR
male sex determination	1	1404.3×	0.001	PTGDR
mast cell degranulation	1	624.1×	0.003	PTGDR
positive regulation of cytosolic calcium ion concentration	1	117.0×	0.011	PTGDR
inflammatory response	1	37.7×	0.028	PTGDR
G protein-coupled receptor signaling pathway	1	36.2×	0.028	PTGDR

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
PTGDR	TREPROSTINIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PTGDR	14	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
TREPROSTINIL	4	PTGDR
SELEXIPAG	4	PTGDR
RAMATROBAN	4	PTGDR
LAROPIPRANT	4	PTGDR
ILOPROST	4	PTGDR
DINOPROST	4	PTGDR
SETIPIPRANT	3	PTGDR
RALINEPAG	3	PTGDR
ASAPIPRANT	3	PTGDR
TIMAPIPRANT	3	PTGDR
VIDUPIPRANT	2	PTGDR
LASELIPAG	2	PTGDR
BI-671800	2	PTGDR
MK-7246	1	PTGDR

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
PTGDR	131	Binding:91, Functional:40

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
PTGDR	131

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

14 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	PTGDR
SELEXIPAG	4	PTGDR
RAMATROBAN	4	PTGDR
LAROPIPRANT	4	PTGDR
ILOPROST	4	PTGDR
DINOPROST	4	PTGDR
SETIPIPRANT	3	PTGDR
RALINEPAG	3	PTGDR
ASAPIPRANT	3	PTGDR
TIMAPIPRANT	3	PTGDR
VIDUPIPRANT	2	PTGDR
LASELIPAG	2	PTGDR
BI-671800	2	PTGDR
MK-7246	1	PTGDR

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	PTGDR
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.