Inflammatory bowel disease 19

Summary

Inflammatory bowel disease 19 (MONDO:0012845) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory bowel disease 19
Mondo ID	MONDO:0012845
MeSH	C567372
OMIM	612278
DOID	DOID:0110890
UMLS	C2677079
MedGen	393652
Is cancer (heuristic)	no

Also known as: IBD19 · inflammatory bowel disease (Crohn disease) 19 · inflammatory bowel disease 19 · inflammatory bowel disease caused by mutation in IRGM · inflammatory bowel disease type 19 · IRGM inflammatory bowel disease

Data availability: 1 ClinVar variant.

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 19

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 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

1 retrieved; paginated sample, class counts are floors:

1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
30716	NM_001145805.2(IRGM):c.313C>T (p.Leu105=)	IRGM	Benign	criteria provided, multiple submitters, no conflicts

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
IRGM	HGNC:29597	ENSG00000237693	A1A4Y4	Immunity-related GTPase family M protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IRGM	Immunity-related GTPase family M protein	Immunity-related GTPase that plays important roles in innate immunity and inflammatory response.

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)
IRGM	Other/Unknown	no		Immunity-related_GTPase-like, P-loop_NTPase, G_IRG_dom

Expression context

Cohort genes with no expression data: 0.

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
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IRGM	143	tissue_specific	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, granulocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IRGM	1,803

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
IRGM	A1A4Y4	84.60

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
protein lipidation involved in autophagosome assembly	1	16852.0×	0.002	IRGM
protein targeting to vacuole involved in autophagy	1	5617.3×	0.002	IRGM
positive regulation of lysosome organization	1	4213.0×	0.002	IRGM
positive regulation of type II interferon-mediated signaling pathway	1	2808.7×	0.002	IRGM
CAMKK-AMPK signaling cascade	1	2808.7×	0.002	IRGM
positive regulation of autophagosome maturation	1	2407.4×	0.002	IRGM
positive regulation of xenophagy	1	2106.5×	0.002	IRGM
positive regulation of peptidyl-threonine phosphorylation	1	1872.4×	0.002	IRGM
nucleotide-binding oligomerization domain containing 2 signaling pathway	1	1532.0×	0.002	IRGM
negative regulation of defense response to virus	1	1296.3×	0.002	IRGM
positive regulation of protein serine/threonine kinase activity	1	1296.3×	0.002	IRGM
positive regulation of mitophagy	1	1123.5×	0.002	IRGM
regulation of protein complex stability	1	1053.2×	0.002	IRGM
negative regulation of cGAS/STING signaling pathway	1	1053.2×	0.002	IRGM
negative regulation of NLRP3 inflammasome complex assembly	1	991.3×	0.002	IRGM
positive regulation of macrophage activation	1	842.6×	0.003	IRGM
positive regulation of peptidyl-serine phosphorylation	1	766.0×	0.003	IRGM
positive regulation of mitochondrial fission	1	766.0×	0.003	IRGM
regulation of protein-containing complex assembly	1	732.7×	0.003	IRGM
cellular response to interferon-beta	1	526.6×	0.004	IRGM
negative regulation of type I interferon production	1	495.6×	0.004	IRGM
negative regulation of type II interferon production	1	383.0×	0.004	IRGM
autophagosome maturation	1	351.1×	0.005	IRGM
protein destabilization	1	290.6×	0.005	IRGM
positive regulation of protein phosphorylation	1	276.3×	0.005	IRGM
autophagosome assembly	1	224.7×	0.006	IRGM
positive regulation of autophagy	1	208.1×	0.007	IRGM
cellular response to virus	1	200.6×	0.007	IRGM
negative regulation of canonical NF-kappaB signal transduction	1	172.0×	0.007	IRGM
defense response to Gram-negative bacterium	1	168.5×	0.007	IRGM

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
IRGM	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
IRGM	3	Binding:3

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	IRGM

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)
IRGM	3	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.