Inflammatory bowel disease 1

Summary

Inflammatory bowel disease 1 (MONDO:0009960) is a disease with 6 cohort genes and 10 clinical trials. Top therapeutic interventions include infliximab and vamorolone.

At a glance

• Cohort genes: 6
• ClinVar variants: 177
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inflammatory bowel disease 1
Mondo ID	MONDO:0009960
OMIM	266600
DOID	DOID:0110892
SNOMED CT	34000006
GARD	0009857
Is cancer (heuristic)	no

Also known as: Crohn disease-associated growth failure · IBD1 · inflammatory bowel disease (Crohn disease) 1 · inflammatory bowel disease 1 · inflammatory bowel disease 1, Crohn disease · inflammatory bowel disease caused by mutation in NOD2 · inflammatory bowel disease type 1 · NOD2 inflammatory bowel disease · paediatric ulcerative colitis · pediatric ulcerative colitis · ulcerative colitis, paediatric · ulcerative colitis, pediatric

Data availability: 177 ClinVar variants · 1 GenCC gene-disease record.

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 1

Related subtypes (39): Crohn disease, colitis, proctitis, ulcerative proctosigmoiditis, inflammatory bowel disease 11, cutaneous photosensitivity-lethal colitis syndrome, 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, 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

177 retrieved; paginated sample, class counts are floors:

79 conflicting classifications of pathogenicity, 51 uncertain significance, 24 benign/likely benign, 11 benign, 4 conflicting classifications of pathogenicity; association, 3 likely benign, 3 association, 2 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
264679	NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)	ERCC2	Pathogenic	criteria provided, multiple submitters, no conflicts
634817	NM_001370466.1(NOD2):c.1639C>T (p.Gln547Ter)	NOD2	Pathogenic	criteria provided, single submitter
319475	NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)	CYLD-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319476	NM_001370466.1(NOD2):c.*89C>T	CYLD-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319484	NM_001370466.1(NOD2):c.*462C>A	CYLD-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319488	NM_001370466.1(NOD2):c.*873C>T	CYLD-AS1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
4691	NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	CYLD-AS1	Conflicting classifications of pathogenicity; association	criteria provided, conflicting classifications
1081281	NM_001080467.3(MYO5B):c.2306T>A (p.Ile769Asn)	MYO5B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
103114	NM_001370466.1(NOD2):c.*8G>A	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1391926	NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1453223	NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1484179	NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1675106	NM_001370466.1(NOD2):c.963A>G (p.Leu321=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
197333	NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319424	NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319425	NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319426	NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319427	NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319428	NM_001370466.1(NOD2):c.450G>A (p.Pro150=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319431	NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319432	NM_001370466.1(NOD2):c.552C>T (p.Ala184=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319434	NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319436	NM_001370466.1(NOD2):c.726G>A (p.Pro242=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319437	NM_001370466.1(NOD2):c.747G>A (p.Leu249=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319438	NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319439	NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319440	NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319441	NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319444	NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
319447	NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)	NOD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 8 · 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
NOD2	Limited	Unknown	inflammatory bowel disease 1	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
NOD2	Orphanet:90340	Blau syndrome
ERCC2	Orphanet:1466	COFS syndrome
ERCC2	Orphanet:220295	Xeroderma pigmentosum-Cockayne syndrome complex
ERCC2	Orphanet:33364	Trichothiodystrophy
ERCC2	Orphanet:910	Xeroderma pigmentosum
MYO5B	Orphanet:2290	Microvillus inclusion disease
MYO5B	Orphanet:480491	MYO5B-related progressive familial intrahepatic cholestasis
MYO5B	Orphanet:79306	Progressive familial intrahepatic cholestasis type 1

Cohort genes → proteins

6 cohort genes, 5 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	6

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
NOD2	HGNC:5331	ENSG00000167207	Q9HC29	Nucleotide-binding oligomerization domain-containing protein 2	gencc,clinvar
ERCC2	HGNC:3434	ENSG00000104884	P18074	General transcription and DNA repair factor IIH helicase subunit XPD	clinvar
HSPA1L	HGNC:5234	ENSG00000204390	P34931	Heat shock 70 kDa protein 1-like	clinvar
CYLD-AS1	HGNC:55352	ENSG00000261644		CYLD antisense RNA 1	clinvar
MYO5B	HGNC:7603	ENSG00000167306	Q9ULV0	Unconventional myosin-Vb	clinvar
PRKCQ	HGNC:9410	ENSG00000065675	Q04759	Protein kinase C theta type	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
NOD2	Nucleotide-binding oligomerization domain-containing protein 2	Pattern recognition receptor (PRR) that detects bacterial peptidoglycan fragments and other danger signals and plays an important role in gastrointestinal immunity.
ERCC2	General transcription and DNA repair factor IIH helicase subunit XPD	ATP-dependent 5’-3’ DNA helicase.
HSPA1L	Heat shock 70 kDa protein 1-like	Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the form…
MYO5B	Unconventional myosin-Vb	May be involved in vesicular trafficking via its association with the CART complex.
PRKCQ	Protein kinase C theta type	Calcium-independent, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that mediates non-redundant functions in T-cell receptor (TCR) signaling, including T-cells activation, proliferation, differentiation an…

Protein-family classification

Druggable: 2 · Difficult: 1 · Unknown: 3 · Druggable fraction: 0.33

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
Kinase	1	4.6×	0.543
Scaffold/PPI	1	2.9×	0.543
Enzyme (other)	1	2.0×	0.543
Other/Unknown	3	0.9×	0.758

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
NOD2	Other/Unknown	no		CARD, Leu-rich_rpt, NACHT_NTPase
ERCC2	Enzyme (other)	yes	3.6.4.12	RAD3/XPD, DNA/RNA_helicase_DEAH_CS, Helicase-like_DEXD_c2
HSPA1L	Other/Unknown	no		Hsp_70_fam, Heat_shock_70_CS, HSP70_peptide-bd_sf
CYLD-AS1	Other/Unknown	no
MYO5B	Scaffold/PPI	no		IQ_motif_EF-hand-BS, Myosin_head_motor_dom-like, Dilute_dom
PRKCQ	Kinase	yes	2.7.11.13	C2_dom, Prot_kinase_dom, AGC-kinase_C

Expression context

Cohort genes with no expression data: 0.

4 cohort genes 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)	6
unknown	0

Top tissues across cohort

Tissue	Cohort genes
leukocyte	2
monocyte	2
mononuclear cell	1
left adrenal gland	1
right adrenal gland	1
stromal cell of endometrium	1
left testis	1
right testis	1
testis	1
granulocyte	1
ileal mucosa	1
jejunal mucosa	1
lower esophagus mucosa	1
biceps brachii	1
gluteal muscle	1
triceps brachii	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
NOD2	189	broad	marker	monocyte, mononuclear cell, leukocyte
ERCC2	184	ubiquitous	marker	stromal cell of endometrium, right adrenal gland, left adrenal gland
HSPA1L	130	tissue_specific	yes	left testis, right testis, testis
CYLD-AS1	126		yes	granulocyte, monocyte, leukocyte
MYO5B	228	broad	marker	ileal mucosa, lower esophagus mucosa, jejunal mucosa
PRKCQ	231	broad	marker	triceps brachii, gluteal muscle, biceps brachii

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HSPA1L	4,397
MYO5B	3,604
NOD2	3,527
ERCC2	2,746
PRKCQ	2,056
CYLD-AS1	0

Structural data

PDB: 4 · AlphaFold-only: 1 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ERCC2	P18074	51
PRKCQ	Q04759	8
MYO5B	Q9ULV0	4
HSPA1L	P34931	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
NOD2	Q9HC29	84.76

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 81. Enrichment computed across 6 evidence-associated genes (5 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 5 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
The phototransduction cascade	1	253.8×	0.044	PRKCQ
Cytosolic iron-sulfur cluster assembly	1	152.3×	0.044	ERCC2
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	1	103.8×	0.044	NOD2
TCR signaling	1	99.3×	0.044	PRKCQ
activated TAK1 mediates p38 MAPK activation	1	99.3×	0.044	NOD2
Apoptotic cleavage of cellular proteins	1	95.2×	0.044	PRKCQ
Apoptotic execution phase	1	95.2×	0.044	PRKCQ
RAS processing	1	95.2×	0.044	PRKCQ
Effects of PIP2 hydrolysis	1	91.4×	0.044	PRKCQ
Netrin-1 signaling	1	87.8×	0.044	PRKCQ
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	1	81.6×	0.044	ERCC2
Attenuation phase	1	81.6×	0.044	HSPA1L
RNA Pol II CTD phosphorylation and interaction with CE	1	81.6×	0.044	ERCC2
mRNA Capping	1	76.1×	0.044	ERCC2
Aquaporin-mediated transport	1	73.7×	0.044	MYO5B
Formation of the Early Elongation Complex	1	67.2×	0.044	ERCC2
Formation of the HIV-1 Early Elongation Complex	1	67.2×	0.044	ERCC2
RNA Polymerase I Transcription Termination	1	65.3×	0.044	ERCC2
NOD1/2 Signaling Pathway	1	63.4×	0.044	NOD2
Inactivation, recovery and regulation of the phototransduction cascade	1	63.4×	0.044	PRKCQ
HSF1-dependent transactivation	1	63.4×	0.044	HSPA1L
TAK1-dependent IKK and NF-kappa-B activation	1	60.1×	0.044	NOD2
Ovarian tumor domain proteases	1	55.7×	0.044	NOD2
Fc epsilon receptor (FCERI) signaling	1	54.4×	0.044	PRKCQ
Vasopressin regulates renal water homeostasis via Aquaporins	1	53.1×	0.044	MYO5B
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	1	53.1×	0.044	ERCC2
Formation of HIV-1 elongation complex containing HIV-1 Tat	1	51.9×	0.044	ERCC2
Tat-mediated elongation of the HIV-1 transcript	1	51.9×	0.044	ERCC2
Visual phototransduction	1	51.9×	0.044	PRKCQ
Dual Incision in GG-NER	1	51.9×	0.044	ERCC2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 5 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 interleukin-17 production	2	240.7×	0.003	NOD2, PRKCQ
detection of muramyl dipeptide	1	3370.4×	0.006	NOD2
positive regulation of gamma-delta T cell activation	1	3370.4×	0.006	NOD2
positive regulation of T-helper 2 cell activation	1	3370.4×	0.006	PRKCQ
obsolete positive regulation of NF-kappaB transcription factor activity	2	82.2×	0.006	NOD2, PRKCQ
positive regulation of mitotic recombination	1	1685.2×	0.011	ERCC2
detection of biotic stimulus	1	842.6×	0.012	NOD2
positive regulation of dendritic cell cytokine production	1	674.1×	0.012	NOD2
cellular response to peptidoglycan	1	561.7×	0.012	NOD2
negative regulation of macrophage apoptotic process	1	561.7×	0.012	NOD2
positive regulation of dendritic cell antigen processing and presentation	1	481.5×	0.012	NOD2
positive regulation of type 2 immune response	1	481.5×	0.012	NOD2
central nervous system myelin formation	1	481.5×	0.012	ERCC2
intestinal stem cell homeostasis	1	481.5×	0.012	NOD2
regulation of platelet aggregation	1	481.5×	0.012	PRKCQ
transcription elongation by RNA polymerase I	1	421.3×	0.012	ERCC2
hair cell differentiation	1	421.3×	0.012	ERCC2
hair follicle maturation	1	421.3×	0.012	ERCC2
positive regulation of B cell activation	1	421.3×	0.012	NOD2
positive regulation of protein K63-linked ubiquitination	1	421.3×	0.012	NOD2
CD4-positive, alpha-beta T cell proliferation	1	374.5×	0.012	PRKCQ
regulation of appetite	1	337.0×	0.012	NOD2
embryonic cleavage	1	337.0×	0.012	ERCC2
negative regulation of T cell apoptotic process	1	337.0×	0.012	PRKCQ
cellular response to muramyl dipeptide	1	337.0×	0.012	NOD2
regulation of mitotic cell cycle phase transition	1	337.0×	0.012	ERCC2
positive regulation of CD4-positive, alpha-beta T cell proliferation	1	337.0×	0.012	PRKCQ
host-mediated modulation of intestinal microbiota composition	1	306.4×	0.012	NOD2
nucleotide-binding oligomerization domain containing 2 signaling pathway	1	306.4×	0.012	NOD2
antibacterial innate immune response	1	306.4×	0.012	NOD2

Therapeutics

Drug target analysis

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

Druggability breadth: 4 of 6 evidence-associated genes (67%) 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
NOD2	PACLITAXEL
ERCC2	SUNITINIB
PRKCQ	INGENOL MEBUTATE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PRKCQ	37	4
ERCC2	16	4
NOD2	6	4
HSPA1L	0	0
CYLD-AS1	0	0
MYO5B	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
PACLITAXEL	4	NOD2
DOCETAXEL ANHYDROUS	4	NOD2
GEFITINIB	4	NOD2
SUNITINIB	4	ERCC2, PRKCQ
INGENOL MEBUTATE	4	PRKCQ
MIDOSTAURIN	4	PRKCQ
TAMOXIFEN	4	PRKCQ
ENTRECTINIB	4	PRKCQ
CAPIVASERTIB	4	PRKCQ
BOSUTINIB	4	PRKCQ
UPADACITINIB	4	PRKCQ
PEXIDARTINIB	4	PRKCQ
NINTEDANIB	4	PRKCQ
DASATINIB	4	PRKCQ
DINACICLIB	3	ERCC2
DEFACTINIB	3	ERCC2
ALVOCIDIB	3	ERCC2, PRKCQ
SURAMIN	3	PRKCQ
FASUDIL	3	PRKCQ
CURCUMIN	3	PRKCQ
CRENOLANIB	3	PRKCQ
ENZASTAURIN	3	PRKCQ
DOVITINIB	3	PRKCQ
LESTAURTINIB	3	PRKCQ
RUBOXISTAURIN	3	PRKCQ
CYCLOVALONE	2	NOD2
SELICICLIB	2	ERCC2
ZOTIRACICLIB	2	ERCC2
DANUSERTIB	2	ERCC2
MILCICLIB	2	ERCC2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 2.

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

Symbol	Assays	Type breakdown
PRKCQ	754	Binding:743, Functional:11
NOD2	126	Binding:121, Functional:5
ERCC2	3	Binding:3
HSPA1L	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ERCC2	3.6.4.12	DNA helicase
PRKCQ	2.7.11.13	protein kinase C

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
NOD2	126
PRKCQ	754

Pharmacogenomics

Cohort genes with a PharmGKB record: 5; with CPIC/DPWG dosing guidelines: 0.

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

Chemical tractability of cohort targets

30 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)
PACLITAXEL	4	NOD2
DOCETAXEL ANHYDROUS	4	NOD2
GEFITINIB	4	NOD2
SUNITINIB	4	ERCC2, PRKCQ
INGENOL MEBUTATE	4	PRKCQ
MIDOSTAURIN	4	PRKCQ
TAMOXIFEN	4	PRKCQ
ENTRECTINIB	4	PRKCQ
CAPIVASERTIB	4	PRKCQ
BOSUTINIB	4	PRKCQ
UPADACITINIB	4	PRKCQ
PEXIDARTINIB	4	PRKCQ
NINTEDANIB	4	PRKCQ
DASATINIB	4	PRKCQ
DINACICLIB	3	ERCC2
DEFACTINIB	3	ERCC2
ALVOCIDIB	3	ERCC2, PRKCQ
SURAMIN	3	PRKCQ
FASUDIL	3	PRKCQ
CURCUMIN	3	PRKCQ
CRENOLANIB	3	PRKCQ
ENZASTAURIN	3	PRKCQ
DOVITINIB	3	PRKCQ
LESTAURTINIB	3	PRKCQ
RUBOXISTAURIN	3	PRKCQ
CYCLOVALONE	2	NOD2
SELICICLIB	2	ERCC2
ZOTIRACICLIB	2	ERCC2
DANUSERTIB	2	ERCC2
MILCICLIB	2	ERCC2

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	NOD2, ERCC2, PRKCQ
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	3	HSPA1L, CYLD-AS1, MYO5B

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
HSPA1L	1	—
CYLD-AS1	0	—
MYO5B	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE3	1
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01585155	PHASE3	COMPLETED	Clinical Study of TA-650 in Pediatric Patients With Ulcerative Colitis
NCT04348890	PHASE1/PHASE2	WITHDRAWN	Proof of Concept Trial of Vamorolone in Pediatric Ulcerative Colitis
NCT04867408	Not specified	RECRUITING	Endoscopic Severity Image Recognition to Advance Research and Training in Inflammatory Bowel Disease (EVEREST - IBD)
NCT07198113	Not specified	RECRUITING	COMPARE - Pediatric Inflammatory Bowel Disease (PIBD)
NCT02694042	Not specified	TERMINATED	Mission is Remission®: How Can a Disease Self-management Website Change Care?
NCT02985489	Not specified	WITHDRAWN	Pre-Operative Parenteral Nutrition in Malnourished Patients
NCT03827109	Not specified	TERMINATED	Peer Mentoring to Improve Self-management in Youth With IBD
NCT04207008	Not specified	COMPLETED	Trial of a Decision Support Intervention for Adolescents and Young Adults With Ulcerative Colitis
NCT05591976	Not specified	COMPLETED	Exercise Training in Youth With Inflammatory Bowel Disease
NCT05673278	Not specified	UNKNOWN	Non-Invasive Monitoring Through Bowel Ultrasound in Paediatric Inflammatory Bowel Disease Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
INFLIXIMAB	4	1
VAMOROLONE	4	1