Gastrointestinal polyp

Summary

Gastrointestinal polyp (MONDO:0024292) is a disease with 1 cohort gene and 3 clinical trials. Top therapeutic interventions include propofol and cipepofol.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	gastrointestinal polyp
Mondo ID	MONDO:0024292
NCIT	C35516
UMLS	C1257915
MedGen	219797
Is cancer (heuristic)	no

Also known as: gastrointestinal polyp · gastrointestinal tract polyp · GI polyp

Data availability: 1 ClinVar variant.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › gastrointestinal polyp

Related subtypes (30): benign digestive system neoplasm, autoimmune disorder of gastrointestinal tract, gastrointestinal mucositis, diarrheal disease, pancreas disorder, hepatobiliary disorder, digestive system cancer, peptic ulcer disease, stomach disorder, intestinal disorder, Meckel diverticulum, Cronkhite-Canada syndrome, diverticulosis, small-intestinal, diverticulosis of bowel, hernia, and retinal detachment, congenital enteropathy due to enteropeptidase deficiency, hereditary mixed polyposis syndrome, caudal duplication, Moyamoya disease with early-onset achalasia, hyperplastic polyposis syndrome, thoraco-abdominal enteric duplication, digestive duplication, juvenile polyposis syndrome, umbilical cord ulceration-intestinal atresia syndrome, growth retardation-mild developmental delay-chronic hepatitis syndrome, common mesentery, neoplasm of oropharynx, digestive system neuroendocrine neoplasm, digestive system infectious disorder, upper digestive tract disorder, congenital peritoneal encapsulation

Subtypes (2): gastrointestinal hamartoma, anal polyp

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 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
374005	NM_000455.5(STK11):c.853CTG[1] (p.Leu286del)	STK11	Likely pathogenic	criteria provided, single submitter

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
STK11	Orphanet:2869	Peutz-Jeghers syndrome

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
STK11	HGNC:11389	ENSG00000118046	Q15831	Serine/threonine-protein kinase STK11	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STK11	Serine/threonine-protein kinase STK11	Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage…

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
STK11	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_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
hindlimb stylopod muscle	1
left testis	1
right testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STK11	238	ubiquitous	marker	left testis, right testis, hindlimb stylopod muscle

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
STK11	5,146

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
STK11	Q15831	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 14. 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
AMPK inhibits chREBP transcriptional activation activity	1	1427.5×	0.010	STK11
FOXO-mediated transcription of cell death genes	1	713.8×	0.010	STK11
Energy dependent regulation of mTOR by LKB1-AMPK	1	393.8×	0.010	STK11
FOXO-mediated transcription	1	335.9×	0.010	STK11
MTOR signalling	1	265.6×	0.011	STK11
Integration of energy metabolism	1	175.7×	0.013	STK11
Regulation of TP53 Activity	1	132.8×	0.015	STK11
Regulation of TP53 Activity through Phosphorylation	1	117.7×	0.015	STK11
Transcriptional Regulation by TP53	1	62.1×	0.025	STK11
RNA Polymerase II Transcription	1	22.5×	0.062	STK11
Gene expression (Transcription)	1	17.8×	0.071	STK11
Generic Transcription Pathway	1	15.1×	0.077	STK11
Metabolism	1	11.6×	0.093	STK11
Signal Transduction	1	10.2×	0.098	STK11

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 vesicle transport along microtubule	1	16852.0×	0.002	STK11
negative regulation of epithelial cell proliferation involved in prostate gland development	1	2808.7×	0.003	STK11
Golgi localization	1	2106.5×	0.003	STK11
epithelial cell proliferation involved in prostate gland development	1	2106.5×	0.003	STK11
dendrite extension	1	1685.2×	0.003	STK11
activation of protein kinase activity	1	1532.0×	0.003	STK11
positive thymic T cell selection	1	1404.3×	0.003	STK11
G1 to G0 transition	1	1404.3×	0.003	STK11
cellular response to UV-B	1	1404.3×	0.003	STK11
anoikis	1	1296.3×	0.003	STK11
vasculature development	1	1123.5×	0.003	STK11
peptidyl-threonine phosphorylation	1	887.0×	0.004	STK11
regulation of Wnt signaling pathway	1	887.0×	0.004	STK11
regulation of dendrite morphogenesis	1	732.7×	0.004	STK11
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1	702.2×	0.004	STK11
positive regulation of axonogenesis	1	581.1×	0.004	STK11
intrinsic apoptotic signaling pathway by p53 class mediator	1	581.1×	0.004	STK11
tissue homeostasis	1	561.7×	0.004	STK11
positive regulation of transforming growth factor beta receptor signaling pathway	1	526.6×	0.004	STK11
response to ionizing radiation	1	411.0×	0.005	STK11
positive regulation of protein localization to nucleus	1	391.9×	0.005	STK11
establishment of cell polarity	1	383.0×	0.005	STK11
regulation of signal transduction by p53 class mediator	1	383.0×	0.005	STK11
protein localization to nucleus	1	351.1×	0.005	STK11
negative regulation of cold-induced thermogenesis	1	343.9×	0.005	STK11
negative regulation of TORC1 signaling	1	324.1×	0.005	STK11
regulation of cell growth	1	221.7×	0.007	STK11
protein dephosphorylation	1	221.7×	0.007	STK11
positive regulation of autophagy	1	208.1×	0.007	STK11
axonogenesis	1	160.5×	0.009	STK11

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
STK11	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
STK11	17	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	STK11
PACRITINIB	4	STK11
NINTEDANIB	4	STK11
SUNITINIB	4	STK11
MIDOSTAURIN	4	STK11
DINACICLIB	3	STK11
DOVITINIB	3	STK11
LESTAURTINIB	3	STK11
RUBOXISTAURIN	3	STK11
AZD-1480	2	STK11
SU-014813	2	STK11
R-406	2	STK11
TOZASERTIB	2	STK11
PF-00562271	1	STK11
KW-2449	1	STK11
PF-03758309	1	STK11
XL-228	1	STK11

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

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

Symbol	Assays	Type breakdown
STK11	244	Binding:244

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
STK11	2.7.11.1	non-specific serine/threonine protein kinase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
STK11	244

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

17 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)
FEDRATINIB	4	STK11
PACRITINIB	4	STK11
NINTEDANIB	4	STK11
SUNITINIB	4	STK11
MIDOSTAURIN	4	STK11
DINACICLIB	3	STK11
DOVITINIB	3	STK11
LESTAURTINIB	3	STK11
RUBOXISTAURIN	3	STK11
AZD-1480	2	STK11
SU-014813	2	STK11
R-406	2	STK11
TOZASERTIB	2	STK11
PF-00562271	1	STK11
KW-2449	1	STK11
PF-03758309	1	STK11
XL-228	1	STK11

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	STK11
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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE4	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05518929	PHASE4	COMPLETED	Hypoxia During Gastroenterological Endoscope Procedures Sedated With Ciprofol In Overweight Or Obesity Patients
NCT06430372	PHASE1	RECRUITING	Study of VEGF-A Targeting NIR-II Fluorescence Endoscopy in the Gastrointestinal Tract
NCT05141032	Not specified	COMPLETED	Pathfinder Registry

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PROPOFOL	4	1
CIPEPOFOL	3	1