Polyp of large intestine
diseaseOn this page
Also known as colorectal polyplarge bowel polyplarge intestine polyppolyp of large bowelpolyp of the large bowelpolyp of the large intestine
Summary
Polyp of large intestine (MONDO:0021392) is a disease (an umbrella term covering 6 Mondo subtypes) with 4 cohort genes (37 GWAS associations across 3 studies) and 150 clinical trials. Top therapeutic interventions include indocyanine green acid form, calcitriol, and calcium.
At a glance
- Umbrella term: 6 Mondo subtypes
- Cohort genes: 4
- GWAS associations: 37
- ClinVar variants: 5
- Clinical trials: 150
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polyp of large intestine |
| Mondo ID | MONDO:0021392 |
| ICD-11 | 537826614 |
| NCIT | C5679 |
| SNOMED CT | 399505005 |
| UMLS | C0949059 |
| MedGen | 182694 |
| Anatomy (UBERON) | UBERON:0000059 |
| Is cancer (heuristic) | no |
Also known as: colorectal polyp · large bowel polyp · large intestine polyp · polyp of large bowel · polyp of the large bowel · polyp of the large intestine
Data availability: 5 ClinVar variants · 37 GWAS associations (3 studies).
Disease family
An umbrella term covering 6 Mondo subtypes.
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › polyp › polyp of large intestine
Related subtypes (20): epulis, polyp of middle ear, uterine polyp, intestinal polyp, hyperplastic polyp, nasal cavity polyp, stomach polyp, neoplastic polyp, polyp of ureter, polyp of vagina, polyp of vulva, polyp of external auditory canal, polyp of sphenoidal sinus, polyp of frontal sinus, polyp of maxillary sinus, polyp of gallbladder, polyp of ethmoidal sinus, polyp of vocal cord, gastrointestinal polyp, fibroepithelial polyp
Subtypes (6): appendix hyperplastic polyp, colorectal hamartoma, polyp of rectum, polyp of colon, POLE-related polyposis and colorectal cancer syndrome, POLD1-related polyposis and colorectal cancer syndrome
Genetics & variants
GWAS landscape
37 GWAS associations across 3 studies. Top hits map to 27 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs67072353 | 2e-32 | LAMA5 | ? | 0.85 |
| rs2293582 | 7e-29 | GREM1, GREM1-AS1 | ? | 1.16 |
| rs10808556 | 2e-22 | CASC8, POU5F1B, PCAT1, CCAT2 | ? | 0.88 |
| rs4939827 | 1e-20 | SMAD7 | ? | 0.91 |
| rs16969681 | 4e-20 | SCG5 - GREM1 | ? | 1.18 |
| rs760077 | 6e-18 | THBS3, MTX1 | ? | 0.85 |
| rs4939567 | 1e-17 | SMAD7 | ? | 0.9 |
| rs11065828 | 1e-15 | CUX2 | ? | 0.8 |
| rs1505351 | 6e-14 | ERBB4 | ? | 1.18 |
| rs12358150 | 1e-13 | RNA5SP299 - LINC02676 | ? | 0.91 |
| rs77802795 | 1e-13 | VTI1A | ? | 1.11 |
| rs72717646 | 5e-13 | FMN1 | ? | 1.11 |
| rs6055341 | 1e-12 | SRSF10P2 - HSPBAP1P1 | ? | 0.91 |
| rs10076449 | 3e-12 | PITX1-AS1 | ? | 0.93 |
| rs56191021 | 3e-12 | BMP5 | ? | 0.93 |
| rs200235517 | 4e-12 | LINC00536 - EIF3H | ? | 1.14 |
| rs36096333 | 1e-10 | PITX1-AS1 | ? | 1.09 |
| rs7130173 | 3e-10 | POU2AF2 | ? | 1.08 |
| rs141177865 | 1e-09 | CNTN5 - RN7SL222P | ? | 1.39 |
| rs35204860 | 3e-09 | METRNL - RPL23AP87 | ? | 1.08 |
| rs704017 | 3e-09 | ZMIZ1-AS1 | ? | 1.08 |
| rs7834164 | 3e-09 | LINC00536 - EIF3H | ? | 0.92 |
| rs201161959 | 3e-09 | EPS15P1 - MRPL42P4 | ? | 1.07 |
| rs11779352 | 6e-09 | UTP23 | ? | 1.11 |
| rs4902941 | 8e-09 | SIPA1L1 | ? | 0.88 |
| rs141093369 | 1e-08 | LINC02474, LINC01705 | ? | 1.08 |
| rs140784220 | 2e-08 | LINC02044, NEPRO-AS1 | ? | 0.94 |
| rs7316968 | 3e-08 | LINC00393 | ? | 1.1 |
| rs708686 | 3e-08 | FUT6 - FUT3 | ? | 1.07 |
| rs6066825 | 3e-08 | PREX1 | ? | 0.94 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90432149 | Jiang Y | 2023 | 116,382 | 213,325 | A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders. |
| GCST90093303 | Hikino K | 2021 | 11,292 | 237,990 | Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer. |
| GCST90093301 | Hikino K | 2021 | 4,447 | 157,226 | Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 2 |
| Tier 4: intronic/intergenic | 31 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 32 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 2 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 22 |
| intergenic_variant | 6 |
| non_coding_transcript_exon_variant | 3 |
| regulatory_region_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs67072353 | 20 | 62365646 | G>A | 0.05 | intron_variant | LAMA5 | 2e-32 | Tier 4: intronic/intergenic |
| rs2293582 | 15 | 32718211 | G>A,C,T | 0.05 | non_coding_transcript_exon_variant | GREM1, GREM1-AS1 | 7e-29 | Tier 4: intronic/intergenic |
| rs10808556 | 8 | 127400902 | C>T | 0.05 | non_coding_transcript_exon_variant | CASC8, POU5F1B, PCAT1, CCAT2 | 2e-22 | Tier 4: intronic/intergenic |
| rs4939827 | 18 | 48927093 | T>A,C | 0.05 | intron_variant | SMAD7 | 1e-20 | Tier 4: intronic/intergenic |
| rs16969681 | 15 | 32700910 | C>T | 0.05 | regulatory_region_variant | SCG5 - GREM1 | 4e-20 | Tier 3: regulatory |
| rs760077 | 1 | 155208991 | T>A,C,G | 0.05 | missense_variant | THBS3, MTX1 | 6e-18 | Tier 1: coding |
| rs4939567 | 18 | 48925503 | G>A | 0.05 | intron_variant | SMAD7 | 1e-17 | Tier 4: intronic/intergenic |
| rs11065828 | 12 | 111191585 | C>A,T | 0.05 | intron_variant | CUX2 | 1e-15 | Tier 4: intronic/intergenic |
| rs1505351 | 2 | 212384825 | C>T | 0.05 | intron_variant | ERBB4 | 6e-14 | Tier 4: intronic/intergenic |
| rs12358150 | 10 | 8693781 | C>T | 0.05 | intergenic_variant | RNA5SP299 - LINC02676 | 1e-13 | Tier 4: intronic/intergenic |
| rs77802795 | 10 | 112505312 | T>C | 0.05 | intron_variant | VTI1A | 1e-13 | Tier 4: intronic/intergenic |
| rs72717646 | 15 | 32796431 | T>A | 0.05 | intron_variant | FMN1 | 5e-13 | Tier 4: intronic/intergenic |
| rs6055341 | 20 | 7863756 | G>A,C,T | 0.05 | intergenic_variant | SRSF10P2 - HSPBAP1P1 | 1e-12 | Tier 4: intronic/intergenic |
| rs10076449 | 5 | 135119588 | C>T | 0.05 | intron_variant | PITX1-AS1 | 3e-12 | Tier 4: intronic/intergenic |
| rs56191021 | 6 | 55848568 | C>T | 0.05 | intron_variant | BMP5 | 3e-12 | Tier 4: intronic/intergenic |
| rs200235517 | 8 | 116618774 | CG>C | intergenic_variant | LINC00536 - EIF3H | 4e-12 | Tier 4: intronic/intergenic | |
| rs36096333 | 5 | 135114972 | T>A,C,G | 0.05 | intron_variant | PITX1-AS1 | 1e-10 | Tier 4: intronic/intergenic |
| rs7130173 | 11 | 111283347 | A>C,T | 0.05 | intron_variant | POU2AF2 | 3e-10 | Tier 4: intronic/intergenic |
| rs141177865 | 11 | 100525884 | A>C | regulatory_region_variant | CNTN5 - RN7SL222P | 1e-09 | Tier 3: regulatory | |
| rs35204860 | 17 | 83095585 | C>G,T | 0.05 | intron_variant | METRNL - RPL23AP87 | 3e-09 | Tier 4: intronic/intergenic |
| rs704017 | 10 | 79059375 | A>G | 0.05 | intron_variant | ZMIZ1-AS1 | 3e-09 | Tier 4: intronic/intergenic |
| rs7834164 | 8 | 116632223 | A>C,G | 0.05 | intergenic_variant | LINC00536 - EIF3H | 3e-09 | Tier 4: intronic/intergenic |
| rs201161959 | 7 | 46825360 | T>A,C,G | 0.05 | intron_variant | EPS15P1 - MRPL42P4 | 3e-09 | Tier 4: intronic/intergenic |
| rs11779352 | 8 | 116801302 | G>A,T | 0.05 | intron_variant | UTP23 | 6e-09 | Tier 4: intronic/intergenic |
| rs4902941 | 14 | 71633247 | A>G,T | 0.05 | intron_variant | SIPA1L1 | 8e-09 | Tier 4: intronic/intergenic |
| rs141093369 | 1 | 221975917 | A>C,G | 0.05 | intron_variant | LINC02474, LINC01705 | 1e-08 | Tier 4: intronic/intergenic |
| rs140784220 | 3 | 113155787 | CA>C,CAA,CAAA | 0.05 | intron_variant | LINC02044, NEPRO-AS1 | 2e-08 | Tier 4: intronic/intergenic |
| rs7316968 | 13 | 73417325 | T>C,G | 0.05 | intron_variant | LINC00393 | 3e-08 | Tier 4: intronic/intergenic |
| rs708686 | 19 | 5840608 | C>T | 0.05 | intergenic_variant | FUT6 - FUT3 | 3e-08 | Tier 4: intronic/intergenic |
| rs6066825 | 20 | 48723580 | A>G,T | 0.05 | intron_variant | PREX1 | 3e-08 | Tier 4: intronic/intergenic |
ClinVar germline variants
5 retrieved; paginated sample, class counts are floors:
3 uncertain significance, 1 pathogenic/likely pathogenic, 1 benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 127838 | NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) | MUTYH | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 267899 | 46;XY;t(3;4)(q25.3;q21.3) | Uncertain significance | criteria provided, single submitter | |
| 655283 | NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu) | C11orf65 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 523433 | NM_000501.4(ELN):c.898A>T (p.Thr300Ser) | ELN | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 231485 | NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) | TP53 | Benign | reviewed by expert panel |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 26 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| TP53 | Orphanet:1333 | Familial pancreatic carcinoma |
| TP53 | Orphanet:145 | Hereditary breast and/or ovarian cancer syndrome |
| TP53 | Orphanet:1501 | Adrenocortical carcinoma |
| TP53 | Orphanet:210159 | Adult hepatocellular carcinoma |
| TP53 | Orphanet:251576 | Gliosarcoma |
| TP53 | Orphanet:251579 | Giant cell glioblastoma |
| TP53 | Orphanet:251899 | Choroid plexus carcinoma |
| TP53 | Orphanet:2807 | Papilloma of choroid plexus |
| TP53 | Orphanet:293199 | Pleomorphic rhabdomyosarcoma |
| TP53 | Orphanet:3318 | Essential thrombocythemia |
| TP53 | Orphanet:524 | Li-Fraumeni syndrome |
| TP53 | Orphanet:52688 | Myelodysplastic syndrome |
| TP53 | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| TP53 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| TP53 | Orphanet:668 | Osteosarcoma |
| TP53 | Orphanet:67038 | B-cell chronic lymphocytic leukemia |
| TP53 | Orphanet:70573 | Small cell lung cancer |
| TP53 | Orphanet:96253 | Cushing disease |
| TP53 | Orphanet:99756 | Alveolar rhabdomyosarcoma |
| TP53 | Orphanet:99757 | Embryonal rhabdomyosarcoma |
| ELN | Orphanet:3193 | Supravalvular aortic stenosis |
| ELN | Orphanet:90348 | Autosomal dominant cutis laxa |
| ELN | Orphanet:904 | Williams syndrome |
| ELN | Orphanet:91387 | Familial thoracic aortic aneurysm and aortic dissection |
| MUTYH | Orphanet:247798 | MUTYH-related polyposis |
| MUTYH | Orphanet:440437 | Familial colorectal cancer Type X |
Cohort genes → proteins
4 cohort genes, 4 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 4 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| TP53 | HGNC:11998 | ENSG00000141510 | P04637 | Cellular tumor antigen p53 | clinvar |
| C11orf65 | HGNC:28519 | ENSG00000166323 | Q8NCR3 | Protein MFI | clinvar |
| ELN | HGNC:3327 | ENSG00000049540 | P15502 | Elastin | clinvar |
| MUTYH | HGNC:7527 | ENSG00000132781 | Q9UIF7 | Adenine DNA glycosylase | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| TP53 | Cellular tumor antigen p53 | Multifunctional transcription factor that induces cell cycle arrest, DNA repair or apoptosis upon binding to its target DNA sequence. |
| C11orf65 | Protein MFI | Acts as an inhibitor of mitochondrial fission. |
| ELN | Elastin | Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. |
| MUTYH | Adenine DNA glycosylase | Involved in oxidative DNA damage repair. |
Protein-family classification
Druggable: 0 · Difficult: 1 · Unknown: 3 · 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 |
|---|---|---|---|
| Transcription factor | 1 | 2.1× | 0.404 |
| Other/Unknown | 3 | 1.3× | 0.404 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| TP53 | Transcription factor | no | p53_tumour_suppressor, p53-like_TF_DNA-bd_sf, p53_tetrameristn | |
| C11orf65 | Other/Unknown | no | ||
| ELN | Other/Unknown | no | Tropoelastin | |
| MUTYH | Other/Unknown | no | NUDIX_hydrolase_dom, HhH_motif, HhH-GPD_domain |
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) | 4 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| ganglionic eminence | 1 |
| tendon of biceps brachii | 1 |
| ventricular zone | 1 |
| left testis | 1 |
| right testis | 1 |
| sperm | 1 |
| ascending aorta | 1 |
| descending thoracic aorta | 1 |
| thoracic aorta | 1 |
| cerebellar cortex | 1 |
| cerebellar hemisphere | 1 |
| right hemisphere of cerebellum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| TP53 | 223 | ubiquitous | marker | ventricular zone, ganglionic eminence, tendon of biceps brachii |
| C11orf65 | 163 | ubiquitous | marker | sperm, left testis, right testis |
| ELN | 227 | broad | marker | descending thoracic aorta, ascending aorta, thoracic aorta |
| MUTYH | 134 | ubiquitous | marker | cerebellar hemisphere, cerebellar cortex, right hemisphere of cerebellum |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| TP53 | 22,736 |
| ELN | 2,692 |
| MUTYH | 1,815 |
| C11orf65 | 312 |
Structural data
PDB: 2 · AlphaFold-only: 2 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| TP53 | P04637 | 313 |
| MUTYH | Q9UIF7 | 3 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| C11orf65 | Q8NCR3 | 74.69 |
| ELN | P15502 | 36.20 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 54. Enrichment computed across 4 evidence-associated genes (3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Defective MUTYH substrate binding | 1 | 3806.7× | 0.005 | MUTYH |
| Defective MUTYH substrate processing | 1 | 3806.7× | 0.005 | MUTYH |
| Loss of function of TP53 in cancer due to loss of tetramerization ability | 1 | 3806.7× | 0.005 | TP53 |
| Regulation of TP53 Expression | 1 | 1903.3× | 0.007 | TP53 |
| Transcriptional activation of cell cycle inhibitor p21 | 1 | 951.7× | 0.011 | TP53 |
| Activation of NOXA and translocation to mitochondria | 1 | 634.4× | 0.012 | TP53 |
| RUNX3 regulates CDKN1A transcription | 1 | 543.8× | 0.012 | TP53 |
| PI5P Regulates TP53 Acetylation | 1 | 423.0× | 0.012 | TP53 |
| Activation of PUMA and translocation to mitochondria | 1 | 380.7× | 0.012 | TP53 |
| Displacement of DNA glycosylase by APEX1 | 1 | 346.1× | 0.012 | MUTYH |
| TP53 Regulates Transcription of Caspase Activators and Caspases | 1 | 317.2× | 0.012 | TP53 |
| TP53 Regulates Transcription of Death Receptors and Ligands | 1 | 317.2× | 0.012 | TP53 |
| Urea cycle | 1 | 292.8× | 0.012 | TP53 |
| Regulation of TP53 Activity through Association with Co-factors | 1 | 271.9× | 0.012 | TP53 |
| TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain | 1 | 253.8× | 0.012 | TP53 |
| Stabilization of p53 | 1 | 253.8× | 0.012 | TP53 |
| TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest | 1 | 237.9× | 0.012 | TP53 |
| Formation of Senescence-Associated Heterochromatin Foci (SAHF) | 1 | 223.9× | 0.012 | TP53 |
| Zygotic genome activation (ZGA) | 1 | 223.9× | 0.012 | TP53 |
| Regulation of NF-kappa B signaling | 1 | 211.5× | 0.012 | TP53 |
| TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest | 1 | 200.3× | 0.012 | TP53 |
| SUMOylation of transcription factors | 1 | 190.3× | 0.012 | TP53 |
| TP53 Regulates Transcription of Genes Involved in Cytochrome C Release | 1 | 181.3× | 0.012 | TP53 |
| Regulation of TP53 Activity through Methylation | 1 | 181.3× | 0.012 | TP53 |
| TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain | 1 | 173.0× | 0.012 | TP53 |
| Regulation of TP53 Activity through Acetylation | 1 | 152.3× | 0.014 | TP53 |
| Pyroptosis | 1 | 141.0× | 0.014 | TP53 |
| Elastic fibre formation | 1 | 112.0× | 0.017 | ELN |
| Oncogene Induced Senescence | 1 | 112.0× | 0.017 | TP53 |
| Molecules associated with elastic fibres | 1 | 102.9× | 0.017 | ELN |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| negative regulation of helicase activity | 1 | 4213.0× | 0.007 | TP53 |
| cellular response to actinomycin D | 1 | 4213.0× | 0.007 | TP53 |
| regulation of intrinsic apoptotic signaling pathway by p53 class mediator | 1 | 4213.0× | 0.007 | TP53 |
| negative regulation of G1 to G0 transition | 1 | 4213.0× | 0.007 | TP53 |
| positive regulation of mitochondrial membrane permeability | 1 | 2106.5× | 0.007 | TP53 |
| oligodendrocyte apoptotic process | 1 | 2106.5× | 0.007 | TP53 |
| negative regulation of glucose catabolic process to lactate via pyruvate | 1 | 2106.5× | 0.007 | TP53 |
| negative regulation of pentose-phosphate shunt | 1 | 2106.5× | 0.007 | TP53 |
| obsolete homolactic fermentation | 1 | 1404.3× | 0.007 | TP53 |
| signal transduction by p53 class mediator | 1 | 1404.3× | 0.007 | TP53 |
| negative regulation of miRNA processing | 1 | 1404.3× | 0.007 | TP53 |
| intrinsic apoptotic signaling pathway in response to hypoxia | 1 | 1404.3× | 0.007 | TP53 |
| regulation of fibroblast apoptotic process | 1 | 1404.3× | 0.007 | TP53 |
| T cell proliferation involved in immune response | 1 | 1053.2× | 0.007 | TP53 |
| depurination | 1 | 1053.2× | 0.007 | MUTYH |
| positive regulation of programmed necrotic cell death | 1 | 1053.2× | 0.007 | TP53 |
| oxidative stress-induced premature senescence | 1 | 1053.2× | 0.007 | TP53 |
| B cell lineage commitment | 1 | 842.6× | 0.007 | TP53 |
| T cell lineage commitment | 1 | 842.6× | 0.007 | TP53 |
| mRNA transcription | 1 | 842.6× | 0.007 | TP53 |
| positive regulation of RNA polymerase II transcription preinitiation complex assembly | 1 | 842.6× | 0.007 | TP53 |
| positive regulation of thymocyte apoptotic process | 1 | 842.6× | 0.007 | TP53 |
| cellular response to UV-C | 1 | 842.6× | 0.007 | TP53 |
| negative regulation of mitochondrial fission | 1 | 842.6× | 0.007 | C11orf65 |
| regulation of mitochondrial membrane permeability involved in apoptotic process | 1 | 702.2× | 0.008 | TP53 |
| obsolete negative regulation of protein targeting to mitochondrion | 1 | 702.2× | 0.008 | C11orf65 |
| viral process | 1 | 601.9× | 0.008 | TP53 |
| mitochondrial DNA repair | 1 | 601.9× | 0.008 | TP53 |
| regulation of cell cycle G2/M phase transition | 1 | 601.9× | 0.008 | TP53 |
| regulation of tissue remodeling | 1 | 526.6× | 0.008 | TP53 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 3
Druggability breadth: 3 of 4 evidence-associated genes (75%) 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 |
|---|---|
| TP53 | NITROFURANTOIN |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| TP53 | 196 | 4 |
| C11orf65 | 0 | 0 |
| ELN | 0 | 0 |
| MUTYH | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| TP53 | 869 | Binding:775, ADMET:83, Functional:10, Toxicity:1 |
| MUTYH | 1 | Functional:1 |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| TP53 | 869 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 4; 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) |
|---|---|---|
| NITROFURANTOIN | 4 | TP53 |
| DIOSMIN | 4 | TP53 |
| VERTEPORFIN | 4 | TP53 |
| CANDESARTAN CILEXETIL | 4 | TP53 |
| DIENESTROL | 4 | TP53 |
| CLOTRIMAZOLE | 4 | TP53 |
| COLCHICINE | 4 | TP53 |
| NABUMETONE | 4 | TP53 |
| SALMETEROL XINAFOATE | 4 | TP53 |
| AMIODARONE HYDROCHLORIDE | 4 | TP53 |
| FURAZOLIDONE | 4 | TP53 |
| AMOXAPINE | 4 | TP53 |
| RALOXIFENE HYDROCHLORIDE | 4 | TP53 |
| NICARDIPINE HYDROCHLORIDE | 4 | TP53 |
| SULCONAZOLE NITRATE | 4 | TP53 |
| PYRITHIONE ZINC | 4 | TP53 |
| LACTIC ACID | 4 | TP53 |
| OXYMETHOLONE | 4 | TP53 |
| CHLOROXINE | 4 | TP53 |
| PROPIOLACTONE | 4 | TP53 |
| CLOMIPRAMINE HYDROCHLORIDE | 4 | TP53 |
| PHENYL AMINOSALICYLATE | 4 | TP53 |
| THIORIDAZINE HYDROCHLORIDE | 4 | TP53 |
| AMITRIPTYLINE HYDROCHLORIDE | 4 | TP53 |
| ETHOPROPAZINE HYDROCHLORIDE | 4 | TP53 |
| MECHLORETHAMINE HYDROCHLORIDE | 4 | TP53 |
| ECONAZOLE NITRATE | 4 | TP53 |
| TRIFLUPROMAZINE HYDROCHLORIDE | 4 | TP53 |
| PROCHLORPERAZINE EDISYLATE | 4 | TP53 |
| DEQUALINIUM CHLORIDE | 4 | TP53 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | TP53 |
| 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 | C11orf65, ELN, MUTYH |
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) |
|---|---|---|
| C11orf65 | 0 | — |
| ELN | 0 | — |
| MUTYH | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 150.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 144 |
| PHASE4 | 2 |
| PHASE3 | 1 |
| PHASE2 | 1 |
| PHASE1 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01646242 | PHASE4 | COMPLETED | Cold Snare Versus Double Biopsy Polypectomy Technique for Removal of Diminutive Colorectal Polyps |
| NCT02887573 | PHASE4 | UNKNOWN | Free-residue Nutrients for the Bowel Preparation of Colon Capsule Endoscopy |
| NCT02343601 | PHASE3 | COMPLETED | Perioperative Hemodynamic Optimization Using the Photoplethysmography in Colorectal Surgery |
| NCT05776381 | PHASE2 | NOT_YET_RECRUITING | The Impact of a Patient Decision Aid on Treatment Choices for Patients With an Unexpected Malignant Colorectal Polyp |
| NCT00298545 | PHASE1 | COMPLETED | Effect of Vitamin D and Calcium on Genes in the Colon |
| NCT03070613 | EARLY_PHASE1 | UNKNOWN | Investigating the Use of Fluorescent Lectins to Identify Dysplasia and Cancer During Endoscopy and Surgery |
| NCT04307901 | Not specified | RECRUITING | Safety Of ColoRectal Assessment and Tumor Evaluation by Colon Capsule Endoscopy |
| NCT04824053 | Not specified | RECRUITING | Effects of UNICLA-A2 Dairy Products on Patients at High-risk of Colorectal Cancer Development |
| NCT05041478 | Not specified | RECRUITING | Cold Snare Endoscopic Mucosal Resection (EMR) vs Cold EMR With Margin Snare Tip Soft Coagulation (STSC) |
| NCT05064124 | Not specified | RECRUITING | Early DiAgnosis Real-Time Healthcare System for CANcer Trial |
| NCT05144152 | Not specified | RECRUITING | Diagnostic Accuracy of M3 in Predicting Colorectal Advanced Adenoma Recurrence (M3-AA) |
| NCT05612347 | Not specified | RECRUITING | Colonoscopy vs Stool Testing for Older Adults With Colon Polyps |
| NCT05636085 | Not specified | NOT_YET_RECRUITING | Clinical Performance of the Mainz Biomed Colorectal Cancer Screening Test for Colorectal Cancer and Advanced Adenoma |
| NCT05877456 | Not specified | ENROLLING_BY_INVITATION | Validation of the Global Polypectomy Assessment Tool (GPAT) |
| NCT05988645 | Not specified | RECRUITING | Performance and Safety of MiWEndo-assisted Colonoscopy (MiWEndo II) |
| NCT06032104 | Not specified | RECRUITING | Feasibility and Colorectal Benefits of Pulses Supplementation |
| NCT06040632 | Not specified | ACTIVE_NOT_RECRUITING | IMPROVE-pT1: Accurate Allocation of Completion Resection in Early Colorectal Cancer |
| NCT06067620 | Not specified | NOT_YET_RECRUITING | Robotic Right Hemicolectomy Versus Laparoscopic Right Hemicolectomy |
| NCT06133387 | Not specified | RECRUITING | PARADIGM - En Bloc Trial With the EndoQuest Endoluminal Surgical (ELS) System |
| NCT06193356 | Not specified | RECRUITING | Detection of Endoscopic Resection Scars and Delineation of Recurrence is Trainable |
| NCT06220149 | Not specified | RECRUITING | Post Polypectomy Bleeding. Que Sera, Sera? Whatever Will be, Will be? |
| NCT06342440 | Not specified | RECRUITING | Early Detection of Advanced Adenomas and Colorectal Cancer |
| NCT06447012 | Not specified | RECRUITING | Artificial Intelligence Development for Colorectal Polyp Diagnosis |
| NCT06452745 | Not specified | RECRUITING | Early Diagnosis of Colorectal Cancer Based on a Non-invasive Metabolomics Profile |
| NCT06502704 | Not specified | RECRUITING | Bile Acids and Microbiome in Early Colorectal Carcinogenesis |
| NCT06603519 | Not specified | ENROLLING_BY_INVITATION | Impact of Dietary Intervention on Inflammation and Microbiome Composition Post-Colonoscopy |
| NCT06629051 | Not specified | RECRUITING | 6-year Follow-up Data After the Berberine Intervention Trial |
| NCT06715384 | Not specified | RECRUITING | Evaluation of a CAM System for Colorectal Polyp Size Measurement |
| NCT06773832 | Not specified | RECRUITING | AI in Predicting Polyp Pathology and Endoscopic Classification |
| NCT06791408 | Not specified | RECRUITING | Clinical Study on the Accuracy of Real-time AI-assisted Endocytoscopy in the Diagnosis of Colorectal Diminutive Polyps |
| NCT06855355 | Not specified | ENROLLING_BY_INVITATION | CBM588 Reduces Colorectal Polyp Recurrence |
| NCT06924489 | Not specified | NOT_YET_RECRUITING | Advanced Adenoma Detection With 3D Imaging Device During Colonoscopy |
| NCT06927258 | Not specified | ENROLLING_BY_INVITATION | Application of Changyanning Granule in Endoscopic Resection of Colorectal Polyps |
| NCT06937047 | Not specified | NOT_YET_RECRUITING | Efficacy and Safety of Cold Versus Hot Snare Polypectomy for Removal of 4-10 mm Pedunculated Colorectal Polyps |
| NCT06957626 | Not specified | RECRUITING | Development and Validation of Microbiota and Metabolite-based Prediction Model for Recurrence of High-risk Colorectal Polyps After Polypectomy |
| NCT07005453 | Not specified | RECRUITING | Accuracy and Sustainability of SCALE-EYE Evaluation for Measuring Reliable Polyp Size |
| NCT07314554 | Not specified | NOT_YET_RECRUITING | Recurrence After Gastric and Intestinal Polyp Resection |
| NCT07328308 | Not specified | NOT_YET_RECRUITING | Delayed Surveillance Colonoscopy Following Piecemeal EMR |
| NCT07362524 | Not specified | NOT_YET_RECRUITING | AI-Assisted Real-Time Endoscopic Characterization of Diminutive Colorectal Polyps in Non-Academic Hospitals |
| NCT07389759 | Not specified | ACTIVE_NOT_RECRUITING | Impact of CADx on Endoscopists’ Histologic Characterization of Diminutive Colorectal Polyps |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| INDOCYANINE GREEN ACID FORM | 4 | 2 |
| CALCITRIOL | 4 | 1 |
| CALCIUM | 4 | 1 |
| MOSAPRIDE | 3 | 3 |
| BLOOD, WHOLE | 3 | 1 |
| SELENIUM | 3 | 1 |
| BERBERINE CHLORIDE | 1 | 1 |
Related Atlas pages
- Cohort genes: TP53, C11orf65, ELN, MUTYH
- Drugs: Indocyanine Green Acid Form, Calcitriol, Calcium, Mosapride, Blood, Whole, Berberine Chloride