Inflammatory bowel disease 17

Summary

Inflammatory bowel disease 17 (MONDO:0012840) 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	inflammatory bowel disease 17
Mondo ID	MONDO:0012840
MeSH	C567378
OMIM	612261
DOID	DOID:0110883
UMLS	C2677091
MedGen	436857
Is cancer (heuristic)	no

Also known as: IBD17 · IL23R inflammatory bowel disease · inflammatory bowel disease 17 · inflammatory bowel disease 17, protection against · inflammatory bowel disease caused by mutation in IL23R · inflammatory bowel disease type 17

Data availability: 2 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inflammatory bowel disease › inflammatory bowel disease 17

Related subtypes (39): Crohn disease, colitis, proctitis, ulcerative proctosigmoiditis, inflammatory bowel disease 11, cutaneous photosensitivity-lethal colitis syndrome, inflammatory bowel disease 1, inflammatory bowel disease 2, inflammatory bowel disease 3, inflammatory bowel disease 7, inflammatory bowel disease 5, inflammatory bowel disease 8, inflammatory bowel disease 6, inflammatory bowel disease 4, inflammatory bowel disease 9, inflammatory bowel disease 10, inflammatory bowel disease 12, inflammatory bowel disease 13, inflammatory bowel disease 14, inflammatory bowel disease 15, inflammatory bowel disease 16, inflammatory bowel disease 18, inflammatory bowel disease 19, inflammatory bowel disease 20, inflammatory bowel disease 21, inflammatory bowel disease 22, inflammatory bowel disease 23, inflammatory bowel disease 24, inflammatory bowel disease 26, inflammatory bowel disease 27, undetermined colitis, cap polyposis, IL10-related early-onset inflammatory bowel disease, neonatal inflammatory skin and bowel disease, inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive, inflammatory bowel disease 30, TRIM22-related inflammatory bowel disease, ALPI-related inflammatory bowel disease, inflammatory bowel disease 29

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:

2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1168829	NM_144701.3(IL23R):c.491+17C>T	IL23R	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
1571673	NM_144701.3(IL23R):c.492-9del	IL23R	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IL23R	Orphanet:117	Behçet disease

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
IL23R	HGNC:19100	ENSG00000162594	Q5VWK5	Interleukin-23 receptor	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL23R	Interleukin-23 receptor	Associates with IL12RB1 to form the interleukin-23 receptor.

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
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IL23R	Antibody/Immunoglobulin	yes		FN3_dom, Ig-like_fold, FN3_sf

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
adrenal tissue	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL23R	39	tissue_specific	marker	secondary oocyte, oocyte, adrenal tissue

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL23R	1,577

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IL23R	Q5VWK5	4

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
Interleukin-23 signaling	1	1268.9×	0.002	IL23R
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.010	IL23R

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
positive regulation of NK T cell activation	1	3370.4×	0.003	IL23R
interleukin-23-mediated signaling pathway	1	2808.7×	0.003	IL23R
positive regulation of T-helper 17 cell lineage commitment	1	2106.5×	0.003	IL23R
positive regulation of memory T cell differentiation	1	1872.4×	0.003	IL23R
positive regulation of T-helper 1 type immune response	1	1685.2×	0.003	IL23R
positive regulation of natural killer cell proliferation	1	1404.3×	0.003	IL23R
positive regulation of T-helper 17 type immune response	1	1404.3×	0.003	IL23R
positive regulation of granulocyte macrophage colony-stimulating factor production	1	991.3×	0.003	IL23R
negative regulation of interleukin-10 production	1	732.7×	0.003	IL23R
positive regulation of activated T cell proliferation	1	674.1×	0.003	IL23R
positive regulation of interleukin-17 production	1	601.9×	0.003	IL23R
positive regulation of osteoclast differentiation	1	581.1×	0.003	IL23R
cell surface receptor signaling pathway via STAT	1	561.7×	0.003	IL23R
positive regulation of defense response to virus by host	1	526.6×	0.003	IL23R
response to type II interferon	1	526.6×	0.003	IL23R
positive regulation of T cell mediated cytotoxicity	1	510.7×	0.003	IL23R
positive regulation of interleukin-12 production	1	391.9×	0.004	IL23R
cell surface receptor signaling pathway via JAK-STAT	1	290.6×	0.005	IL23R
positive regulation of T cell proliferation	1	259.3×	0.005	IL23R
positive regulation of type II interferon production	1	224.7×	0.006	IL23R
defense response to Gram-negative bacterium	1	168.5×	0.007	IL23R
cytokine-mediated signaling pathway	1	130.6×	0.009	IL23R
response to lipopolysaccharide	1	124.8×	0.009	IL23R
inflammatory response	1	37.7×	0.028	IL23R
positive regulation of cell population proliferation	1	33.6×	0.030	IL23R

Therapeutics

Drug target analysis

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

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

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IL23R	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
IL23R	13	Binding:13

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

0 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.

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	0
C	Druggable family + PDB, no drug	1	IL23R
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
IL23R	13	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.