Inflammatory bowel disease 29

Summary

Inflammatory bowel disease 29 (MONDO:0054849) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory bowel disease 29
Mondo ID	MONDO:0054849
OMIM	618077
DOID	DOID:0112155
UMLS	C4748083
MedGen	1648318
Is cancer (heuristic)	no

Also known as: IBD29 · inflammatory bowel disease 29

Data availability: 4 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 29

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 17, 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

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

4 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
559449	NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe)	INAVA	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1696496	NM_001142569.3(INAVA):c.178G>T (p.Ala60Ser)	INAVA	Uncertain significance	criteria provided, single submitter
3891388	NM_001142569.3(INAVA):c.1429C>T (p.Arg477Cys)	INAVA	Uncertain significance	criteria provided, single submitter
4056795	NM_001142569.3(INAVA):c.1644G>A (p.Gln548=)	INAVA	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
INAVA	HGNC:25599	ENSG00000163362	Q3KP66	Innate immunity activator protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
INAVA	Innate immunity activator protein	Expressed in peripheral macrophages and intestinal myeloid-derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
INAVA	Other/Unknown	no		CUPID, CCDC120/INAVA

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
ileal mucosa	1
jejunal mucosa	1
nasal cavity epithelium	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
INAVA	221	broad	marker	ileal mucosa, jejunal mucosa, nasal cavity epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
INAVA	642

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
INAVA	Q3KP66	56.87

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
adherens junction maintenance	1	4213.0×	0.002	INAVA
response to peptidoglycan	1	2407.4×	0.002	INAVA
intestinal epithelial structure maintenance	1	1872.4×	0.002	INAVA
reactive oxygen species biosynthetic process	1	1872.4×	0.002	INAVA
nucleotide-binding oligomerization domain containing 2 signaling pathway	1	1532.0×	0.002	INAVA
response to muramyl dipeptide	1	1404.3×	0.002	INAVA
pattern recognition receptor signaling pathway	1	991.3×	0.002	INAVA
positive regulation of cytokine production involved in immune response	1	991.3×	0.002	INAVA
positive regulation of stress-activated MAPK cascade	1	802.5×	0.002	INAVA
positive regulation of interleukin-10 production	1	401.2×	0.004	INAVA
positive regulation of interleukin-1 beta production	1	259.3×	0.006	INAVA
positive regulation of protein ubiquitination	1	213.3×	0.006	INAVA
positive regulation of interleukin-6 production	1	166.8×	0.007	INAVA
positive regulation of MAPK cascade	1	80.6×	0.014	INAVA
positive regulation of canonical NF-kappaB signal transduction	1	72.6×	0.015	INAVA
innate immune response	1	33.6×	0.030	INAVA

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
INAVA	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	INAVA

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)
INAVA	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.