Polyp of colon
diseaseOn this page
Also known as colon polypcolonic polyppolyp of the colon
Summary
Polyp of colon (MONDO:0021400) is a disease (an umbrella term covering 5 Mondo subtypes) with 4 cohort genes (88 GWAS associations across 17 studies) and 328 clinical trials. Top therapeutic interventions include fospropofol disodium, picosulfuric acid, and prucalopride.
At a glance
- Umbrella term: 5 Mondo subtypes
- Cohort genes: 4
- GWAS associations: 88
- ClinVar variants: 6
- Clinical trials: 328
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | polyp of colon |
| Mondo ID | MONDO:0021400 |
| MeSH | D003111 |
| ICD-10-CM | K63.5 |
| ICD-11 | 1408488915 |
| NCIT | C2954 |
| SNOMED CT | 68496003 |
| UMLS | C0009376 |
| MedGen | 3166 |
| Anatomy (UBERON) | UBERON:0001155 |
| Is cancer (heuristic) | no |
Also known as: colon polyp · colonic polyp · polyp of the colon
Data availability: 6 ClinVar variants · 88 GWAS associations (17 studies).
Disease family
An umbrella term covering 5 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › intestinal disorder › large intestine disorder › colonic disorder › polyp of colon
Related subtypes (12): neuronal intestinal dysplasia, functional diarrhea, megacolon, diverticulitis of colon, cecal disorder, sigmoid disease, functional colonic disease, colitis, colonic neoplasm, colon dysplasia, Chilaiditi syndrome, colonic duplication
Subtypes (5): colon inflammatory polyp, colon juvenile polyp, colon sessile serrated adenoma/polyp, adenomatous colon polyp, colon serrated polyposis
Genetics & variants
GWAS landscape
88 GWAS associations across 17 studies. Top hits map to 29 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs921650 | 7e-70 | GSDMB | ? | 1.02 |
| rs10505477 | 4e-34 | PCAT1, CASC8, POU5F1B | A | 0.07 |
| chr18:46452327 | 2e-30 | A | 0.07 | |
| rs6983267 | 6e-30 | PCAT1, CASC8, POU5F1B, CCAT2 | G | 0.07 |
| rs11874392 | 5e-28 | SMAD7 | T | 0.1 |
| rs4939827 | 2e-27 | SMAD7 | T | 0.06 |
| rs477859 | 3e-26 | LAMA5 | G | 0.13 |
| rs1406389 | 3e-26 | GREM1, GREM1-AS1 | T | 0.12 |
| rs7130173 | 4e-23 | POU2AF2 | C | 0.1 |
| chr20:60932414 | 1e-22 | T | 0.07 | |
| rs3087967 | 1e-22 | POU2AF2 | T | 0.06 |
| rs10891246 | 5e-22 | POU2AF3, COLCA1 | A | 0.06 |
| rs11066015 | 1e-21 | ACAD10 | A | 0.24 |
| rs174553 | 6e-19 | FADS1, FADS2 | ? | 0.99 |
| rs16888589 | 1e-18 | LINC00536 - EIF3H | G | 0.17 |
| chr15:32999806 | 1e-18 | C | 0.06 | |
| rs35107139 | 3e-16 | BMP4 | C | 0.08 |
| rs535025308 | 6e-16 | CHRDL2 | G | 0.15 |
| rs2293582 | 1e-15 | GREM1, GREM1-AS1 | G | 0.06 |
| rs12818766 | 3e-15 | CCND2-AS1 | G | 0.07 |
| chr11:61565908 | 7e-15 | T | 0.05 | |
| rs7894531 | 7e-15 | RNA5SP299 - LINC02676 | G | 0.05 |
| chr20:7877416 | 8e-15 | C | 0.08 | |
| rs72777082 | 2e-14 | RNA5SP299 - LINC02676 | A | 0.07 |
| rs481326 | 2e-14 | NDUFA5P10 - LINC01768 | A | 0.05 |
| rs2423151 | 3e-14 | FGFR3P3 - CASC20 | A | 0.08 |
| chr12:4368607 | 3e-14 | T | 0.06 | |
| rs174568 | 7e-14 | FADS1, FADS2 | C | 0.05 |
| rs4976270 | 1e-13 | PITX1-AS1 | C | 0.05 |
| chr17:811142 | 2e-13 | T | 0.04 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90570609 | You D | 2025 | 121,940 | 1,586,499 | A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. |
| GCST90475319 | Verma A | 2024 | 73,737 | 241,931 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90570621 | You D | 2025 | 58,559 | 1,269,726 | A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. |
| GCST90570632 | You D | 2025 | 58,174 | 651,471 | A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. |
| GCST90018827 | Sakaue S | 2021 | 22,049 | 332,368 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90080271 | Backman JD | 2021 | 15,366 | 372,559 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084257 | Backman JD | 2021 | 15,366 | 372,559 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90570616 | You D | 2025 | 10,159 | 772,631 | A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. |
| GCST90476762 | Verma A | 2024 | 8,522 | 46,983 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479618 | Verma A | 2024 | 8,522 | 46,983 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 1 |
| Tier 2: splice/UTR | 3 |
| Tier 3: regulatory | 1 |
| Tier 4: intronic/intergenic | 45 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 47 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 0 |
| unknown | 2 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 22 |
| intergenic_variant | 10 |
| unknown | 9 |
| non_coding_transcript_exon_variant | 4 |
| 3_prime_UTR_variant | 2 |
| stop_gained | 1 |
| 5_prime_UTR_variant | 1 |
| regulatory_region_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs921650 | 17 | 39912823 | G>A | 0.05 | intron_variant | GSDMB | 7e-70 | Tier 4: intronic/intergenic |
| rs10505477 | 8 | 127395198 | A>C,G,T | 0.5 | intron_variant | PCAT1, CASC8, POU5F1B | 4e-34 | Tier 4: intronic/intergenic |
| chr18:46452327 | 0.453 | 2e-30 | Tier 4: intronic/intergenic | |||||
| rs6983267 | 8 | 127401060 | G>T | 0.434 | non_coding_transcript_exon_variant | PCAT1, CASC8, POU5F1B, CCAT2 | 6e-30 | Tier 4: intronic/intergenic |
| rs11874392 | 18 | 48926786 | A>G,T | 0.05 | intron_variant | SMAD7 | 5e-28 | Tier 4: intronic/intergenic |
| rs4939827 | 18 | 48927093 | T>A,C | 0.479 | intron_variant | SMAD7 | 2e-27 | Tier 4: intronic/intergenic |
| rs477859 | 20 | 62362541 | A>C,G,T | 0.05 | stop_gained | LAMA5 | 3e-26 | Tier 1: coding |
| rs1406389 | 15 | 32717277 | A>C,G,T | 0.05 | non_coding_transcript_exon_variant | GREM1, GREM1-AS1 | 3e-26 | Tier 4: intronic/intergenic |
| rs7130173 | 11 | 111283347 | A>C,T | 0.05 | intron_variant | POU2AF2 | 4e-23 | Tier 4: intronic/intergenic |
| chr20:60932414 | 0.242 | 1e-22 | Tier 4: intronic/intergenic | |||||
| rs3087967 | 11 | 111286111 | T>A,C,G | 0.293 | 3_prime_UTR_variant | POU2AF2 | 1e-22 | Tier 2: splice/UTR |
| rs10891246 | 11 | 111299815 | A>G,T | 0.296 | intron_variant | POU2AF3, COLCA1 | 5e-22 | Tier 4: intronic/intergenic |
| rs11066015 | 12 | 111730205 | G>A | 0.248 | intron_variant | ACAD10 | 1e-21 | Tier 4: intronic/intergenic |
| rs174553 | 11 | 61807686 | A>G,T | 0.05 | intron_variant | FADS1, FADS2 | 6e-19 | Tier 4: intronic/intergenic |
| rs16888589 | 8 | 116623363 | A>G | 0.05 | intergenic_variant | LINC00536 - EIF3H | 1e-18 | Tier 4: intronic/intergenic |
| chr15:32999806 | 0.209 | 1e-18 | Tier 4: intronic/intergenic | |||||
| rs35107139 | 14 | 53952388 | A>C,G,T | 0.05 | 5_prime_UTR_variant | BMP4 | 3e-16 | Tier 2: splice/UTR |
| rs535025308 | 11 | 74721143 | G>C | 0.033 | intron_variant | CHRDL2 | 6e-16 | Tier 4: intronic/intergenic |
| rs2293582 | 15 | 32718211 | G>A,C,T | 0.189 | non_coding_transcript_exon_variant | GREM1, GREM1-AS1 | 1e-15 | Tier 4: intronic/intergenic |
| rs12818766 | 12 | 4266925 | G>A,T | 0.156 | intron_variant | CCND2-AS1 | 3e-15 | Tier 4: intronic/intergenic |
| chr11:61565908 | 0.345 | 7e-15 | Tier 4: intronic/intergenic | |||||
| rs7894531 | 10 | 8692798 | G>A,T | 0.288 | intergenic_variant | RNA5SP299 - LINC02676 | 7e-15 | Tier 4: intronic/intergenic |
| chr20:7877416 | 0.159 | 8e-15 | Tier 4: intronic/intergenic | |||||
| rs72777082 | 10 | 8696322 | G>A,C | 0.05 | intergenic_variant | RNA5SP299 - LINC02676 | 2e-14 | Tier 4: intronic/intergenic |
| rs481326 | 1 | 109822246 | A>G | 0.369 | regulatory_region_variant | NDUFA5P10 - LINC01768 | 2e-14 | Tier 3: regulatory |
| rs2423151 | 20 | 6402880 | G>A | 0.05 | intergenic_variant | FGFR3P3 - CASC20 | 3e-14 | Tier 4: intronic/intergenic |
| chr12:4368607 | 0.158 | 3e-14 | Tier 4: intronic/intergenic | |||||
| rs174568 | 11 | 61826344 | C>A,T | 0.311 | intron_variant | FADS1, FADS2 | 7e-14 | Tier 4: intronic/intergenic |
| rs4976270 | 5 | 135131530 | C>T | 0.446 | intron_variant | PITX1-AS1 | 1e-13 | Tier 4: intronic/intergenic |
| chr17:811142 | 0.446 | 2e-13 | Tier 4: intronic/intergenic |
ClinVar germline variants
6 retrieved; paginated sample, class counts are floors:
3 uncertain significance, 2 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 233781 | NM_000535.7(PMS2):c.251-2A>C | PMS2 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 90589 | NM_000251.3(MSH2):c.1275A>G (p.Glu425=) | MSH2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 127793 | NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) | PMS2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 599334 | NM_000534.5(PMS1):c.79G>C (p.Glu27Gln) | PMS1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 599335 | NM_000534.5(PMS1):c.985C>G (p.Leu329Val) | PMS1 | Uncertain significance | criteria provided, single submitter |
| 599331 | NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) | SEMA4A | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 8 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SEMA4A | Orphanet:1872 | Cone rod dystrophy |
| SEMA4A | Orphanet:440437 | Familial colorectal cancer Type X |
| SEMA4A | Orphanet:791 | Retinitis pigmentosa |
| MSH2 | Orphanet:144 | Lynch syndrome |
| MSH2 | Orphanet:252202 | Constitutional mismatch repair deficiency syndrome |
| PMS1 | Orphanet:144 | Lynch syndrome |
| PMS2 | Orphanet:144 | Lynch syndrome |
| PMS2 | Orphanet:252202 | Constitutional mismatch repair deficiency syndrome |
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 |
|---|---|---|---|---|---|
| SEMA4A | HGNC:10729 | ENSG00000196189 | Q9H3S1 | Semaphorin-4A | clinvar |
| MSH2 | HGNC:7325 | ENSG00000095002 | P43246 | DNA mismatch repair protein Msh2 | clinvar |
| PMS1 | HGNC:9121 | ENSG00000064933 | P54277 | PMS1 protein homolog 1 | clinvar |
| PMS2 | HGNC:9122 | ENSG00000122512 | P54278 | Mismatch repair endonuclease PMS2 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| SEMA4A | Semaphorin-4A | Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling. |
| MSH2 | DNA mismatch repair protein Msh2 | Component of the post-replicative DNA mismatch repair system (MMR). |
| PMS1 | PMS1 protein homolog 1 | Probably involved in the repair of mismatches in DNA. |
| PMS2 | Mismatch repair endonuclease PMS2 | Component of the post-replicative DNA mismatch repair system (MMR). |
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 |
|---|---|---|---|
| Scaffold/PPI | 1 | 4.3× | 0.404 |
| Other/Unknown | 3 | 1.3× | 0.404 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| SEMA4A | Scaffold/PPI | no | Semap_dom, Plexin_repeat, WD40/YVTN_repeat-like_dom_sf | |
| MSH2 | Other/Unknown | no | DNA_mismatch_repair_MutS_C, DNA_mismatch_repair_MutS-lik_N, DNA_mismatch_repair_MutS_core | |
| PMS1 | Other/Unknown | no | MutL/Mlh/PMS, HMG_box_dom, DNA_mismatch_S5_2-like | |
| PMS2 | Other/Unknown | no | MutL/Mlh/PMS, DNA_mismatch_S5_2-like, Ribsml_uS5_D2-typ_fold_subgr |
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 |
|---|---|
| leukocyte | 1 |
| monocyte | 1 |
| mononuclear cell | 1 |
| oocyte | 1 |
| secondary oocyte | 1 |
| ventricular zone | 1 |
| left testis | 1 |
| male germ cell | 1 |
| sperm | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| prefrontal cortex | 1 |
| thymus | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| SEMA4A | 219 | broad | marker | monocyte, mononuclear cell, leukocyte |
| MSH2 | 278 | ubiquitous | marker | secondary oocyte, oocyte, ventricular zone |
| PMS1 | 286 | ubiquitous | marker | sperm, male germ cell, left testis |
| PMS2 | 143 | ubiquitous | marker | thymus, prefrontal cortex, male germ line stem cell (sensu Vertebrata) in testis |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MSH2 | 4,537 |
| PMS2 | 2,658 |
| PMS1 | 2,238 |
| SEMA4A | 997 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| MSH2 | PMS1 | string_interaction |
| MSH2 | PMS2 | string_interaction |
| PMS1 | PMS2 | string_interaction |
Structural data
PDB: 3 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MSH2 | P43246 | 30 |
| PMS2 | P54278 | 9 |
| PMS1 | P54277 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| SEMA4A | Q9H3S1 | 85.05 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 22. 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 |
|---|---|---|---|---|
| Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) | 2 | 543.8× | 5e-05 | MSH2, PMS2 |
| Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) | 2 | 543.8× | 5e-05 | MSH2, PMS2 |
| TP53 Regulates Transcription of DNA Repair Genes | 2 | 120.8× | 7e-04 | MSH2, PMS2 |
| Defective Mismatch Repair Associated With MLH1 | 1 | 1903.3× | 0.002 | PMS2 |
| Defective Mismatch Repair Associated With MSH3 | 1 | 1903.3× | 0.002 | MSH2 |
| Defective Mismatch Repair Associated With MSH6 | 1 | 1903.3× | 0.002 | MSH2 |
| Defective Mismatch Repair Associated With PMS2 | 1 | 1903.3× | 0.002 | PMS2 |
| Defective Mismatch Repair Associated With MSH2 | 1 | 1268.9× | 0.002 | MSH2 |
| Mismatch Repair | 1 | 951.7× | 0.002 | MSH2 |
| Diseases of Mismatch Repair (MMR) | 1 | 951.7× | 0.002 | MSH2 |
| Other semaphorin interactions | 1 | 200.3× | 0.010 | SEMA4A |
| Diseases of DNA repair | 1 | 190.3× | 0.010 | MSH2 |
| Semaphorin interactions | 1 | 131.3× | 0.013 | SEMA4A |
| DNA Repair | 1 | 32.8× | 0.047 | MSH2 |
| Transcriptional Regulation by TP53 | 1 | 20.7× | 0.070 | MSH2 |
| Axon guidance | 1 | 15.1× | 0.088 | SEMA4A |
| Nervous system development | 1 | 14.3× | 0.088 | SEMA4A |
| RNA Polymerase II Transcription | 1 | 7.5× | 0.156 | MSH2 |
| Gene expression (Transcription) | 1 | 6.0× | 0.184 | MSH2 |
| Generic Transcription Pathway | 1 | 5.0× | 0.203 | MSH2 |
| Developmental Biology | 1 | 4.8× | 0.203 | SEMA4A |
| Disease | 1 | 4.4× | 0.212 | MSH2 |
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 |
|---|---|---|---|---|
| mismatch repair | 3 | 486.1× | 5e-07 | MSH2, PMS1, PMS2 |
| somatic recombination of immunoglobulin gene segments | 2 | 2106.5× | 5e-06 | MSH2, PMS2 |
| positive regulation of isotype switching to IgA isotypes | 2 | 1404.3× | 8e-06 | MSH2, PMS2 |
| positive regulation of isotype switching to IgG isotypes | 2 | 766.0× | 2e-05 | MSH2, PMS2 |
| somatic hypermutation of immunoglobulin genes | 2 | 526.6× | 4e-05 | MSH2, PMS2 |
| somatic recombination of immunoglobulin genes involved in immune response | 1 | 4213.0× | 0.002 | MSH2 |
| positive regulation of excitatory synapse assembly | 1 | 1404.3× | 0.003 | SEMA4A |
| positive regulation of inhibitory synapse assembly | 1 | 1404.3× | 0.003 | SEMA4A |
| B cell mediated immunity | 1 | 1053.2× | 0.004 | MSH2 |
| maintenance of DNA repeat elements | 1 | 842.6× | 0.004 | MSH2 |
| response to xenobiotic stimulus | 2 | 34.5× | 0.004 | PMS1, PMS2 |
| mitotic recombination | 1 | 702.2× | 0.005 | MSH2 |
| regulation of endothelial cell migration | 1 | 526.6× | 0.006 | SEMA4A |
| response to UV-B | 1 | 468.1× | 0.006 | MSH2 |
| DNA damage tolerance | 1 | 421.3× | 0.006 | MSH2 |
| T-helper 1 cell differentiation | 1 | 383.0× | 0.006 | SEMA4A |
| oxidative phosphorylation | 1 | 351.1× | 0.006 | MSH2 |
| negative regulation of DNA recombination | 1 | 280.9× | 0.008 | MSH2 |
| mitotic intra-S DNA damage checkpoint signaling | 1 | 234.1× | 0.009 | MSH2 |
| response to X-ray | 1 | 221.7× | 0.009 | MSH2 |
| isotype switching | 1 | 210.7× | 0.009 | MSH2 |
| negative chemotaxis | 1 | 162.0× | 0.011 | SEMA4A |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 1 | 123.9× | 0.013 | MSH2 |
| germ cell development | 1 | 113.9× | 0.014 | MSH2 |
| determination of adult lifespan | 1 | 108.0× | 0.014 | MSH2 |
| semaphorin-plexin signaling pathway | 1 | 100.3× | 0.015 | SEMA4A |
| neural crest cell migration | 1 | 84.3× | 0.017 | SEMA4A |
| B cell differentiation | 1 | 54.7× | 0.025 | MSH2 |
| double-strand break repair | 1 | 50.8× | 0.026 | MSH2 |
| negative regulation of angiogenesis | 1 | 42.1× | 0.030 | SEMA4A |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 4
Druggability breadth: 2 of 4 evidence-associated genes (50%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| SEMA4A | 0 | 0 |
| MSH2 | 0 | 0 |
| PMS1 | 0 | 0 |
| PMS2 | 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 |
|---|---|---|
| MSH2 | 9 | Binding:9 |
| PMS2 | 1 | Binding:1 |
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
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 | 4 | SEMA4A, MSH2, PMS1, PMS2 |
Undrugged target profiles
4 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| SEMA4A | 0 | — |
| MSH2 | 9 | — |
| PMS1 | 0 | — |
| PMS2 | 1 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 328.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 302 |
| PHASE4 | 8 |
| PHASE2 | 6 |
| PHASE3 | 4 |
| PHASE2/PHASE3 | 3 |
| EARLY_PHASE1 | 3 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07456111 | PHASE4 | RECRUITING | A Comparison of Remimazolam Besylate and Propofol Sedation in Patients Undergoing Colonoscopic Polypectomy |
| NCT02097394 | PHASE4 | UNKNOWN | The Clinical Study on Combizym and Bifidobacteri to Prevent the Recurrence of Colon Polyps |
| NCT02688699 | PHASE4 | UNKNOWN | Additive Hemostatic Efficacy of EndoClot After EMR or ESD in the Gastrointestinal Tract |
| NCT03742232 | PHASE4 | COMPLETED | Study Comparing the Bowel Cleansing Efficacy of PLENVU® Versus SELG-ESSE® Using a 2-Day Split Dosing Regimen. |
| NCT04065451 | PHASE4 | COMPLETED | Effect of Epinephrine on Post-polypectomy Pain |
| NCT04709770 | PHASE4 | UNKNOWN | Low-volume vs High-volume Polyethylene Glycol Based Bowel Preparation for Colonoscopy in People Receiving Hemodialysis |
| NCT04758156 | PHASE4 | UNKNOWN | Comparison Between a 1L of Polyethylene Glycol+Ascorbic Acid as a Split Dose Bowel Preparation for Colonoscopy |
| NCT06339697 | PHASE4 | COMPLETED | Short-term Effects of Bowel Preparation on Gut Microbiome in Patients Undergoing Endoscopic Colon Polypectomy |
| NCT00125424 | PHASE2/PHASE3 | COMPLETED | Study of AQUAVAN® Injection (AQUAVAN; Fospropofol Disodium) for Sedation During Colonoscopy |
| NCT00209573 | PHASE3 | COMPLETED | A Study of AQUAVAN® Injection Versus Midazolam HCl for Sedation in Patients Undergoing Elective Colonoscopy |
| NCT00467922 | PHASE3 | COMPLETED | An Assessment of Goal-Directed Intraoperative Fluid Management in Hand Assisted Laparoscopic Colectomy |
| NCT01101672 | PHASE2/PHASE3 | UNKNOWN | Trial for Single Port Versus Conventional Laparoscopic Colectomy |
| NCT01200303 | PHASE2/PHASE3 | COMPLETED | Evaluation of Computer-assisted, Non-cathartic CT Colonography |
| NCT02588248 | PHASE3 | TERMINATED | L-Menthol Injection as a Novel Technique During Colonoscopy |
| NCT05726097 | PHASE3 | COMPLETED | Bowel Preparation Regimen for Colon Capsule Endoscopy Procedure |
| NCT05776381 | PHASE2 | NOT_YET_RECRUITING | The Impact of a Patient Decision Aid on Treatment Choices for Patients With an Unexpected Malignant Colorectal Polyp |
| NCT00018551 | PHASE2 | COMPLETED | Chemoprevention With Folic Acid |
| NCT00209534 | PHASE2 | COMPLETED | A Study of AQUAVAN® Injection in the Presence of Pre-Medication in Patients Undergoing Elective Colonoscopy |
| NCT00209599 | PHASE2 | TERMINATED | A Study of AQUAVAN® Injection Versus Midazolam HCl for Sedation in Elderly Patients Undergoing Elective Colonoscopy |
| NCT00825292 | PHASE2 | COMPLETED | Detection and Classification of Colon Polyps |
| NCT06812403 | PHASE2 | COMPLETED | Combination COMBO Endoscopy Oropharyngeal Airway With High-Flow Nasal Cannula Oxygenation in Sedated Gastrointestinal Endoscopy for Obese Patients |
| NCT01901510 | PHASE1 | COMPLETED | Panchromoendoscopy Using Oral Indigo Carmine Mixed With Polyethylene Glycol Prep |
| NCT02156557 | PHASE1 | COMPLETED | Study of KCC Peptide Application in the Colon |
| NCT01254435 | EARLY_PHASE1 | COMPLETED | Positioning During Colonoscopy |
| NCT01384240 | EARLY_PHASE1 | TERMINATED | Evaluation of a Low-Cost High Resolution Microendoscope for the Detection of Lower Gastrointestinal Neoplasia |
| NCT04858477 | EARLY_PHASE1 | COMPLETED | Use of the Napoleon to Improve Polyp Measurement in Gastroenterology Fellows |
| NCT01368289 | Not specified | ACTIVE_NOT_RECRUITING | Australian Multicentre Colonic Endoscopic Mucosal Resection Study |
| NCT02000141 | Not specified | ACTIVE_NOT_RECRUITING | The Australian Colonic Advanced Mucosal Neoplasia and Endoscopic Resection Study |
| NCT02332785 | Not specified | RECRUITING | Prospective Study of Colon Serrated Polyps |
| NCT03089268 | Not specified | ACTIVE_NOT_RECRUITING | Molecular and Histological Characteristics of Serrated Lesions of the Colon |
| NCT03471793 | Not specified | RECRUITING | The Australian Colonic Large Sessile Lesion Endoscopic Resection Study |
| NCT03865537 | Not specified | ACTIVE_NOT_RECRUITING | Cold Snare Endoscopic Mucosal Resection Trial |
| NCT03891251 | Not specified | RECRUITING | Collecting Recorded Videos of Colonoscopy |
| NCT04117100 | Not specified | RECRUITING | Advanced Endo-therapeutic Procedure : Registry-based Observational Study |
| NCT04220905 | Not specified | RECRUITING | Endoscopic Resection of Large Colorectal Polyps: An Observational Cohort Study |
| NCT05064124 | Not specified | RECRUITING | Early DiAgnosis Real-Time Healthcare System for CANcer Trial |
| NCT05099432 | Not specified | RECRUITING | The CARMA Technique Study |
| NCT05402696 | Not specified | RECRUITING | St. Paul’s Advanced Resection Center Cohort for Colorectal Neoplasia (SPARC-C) |
| NCT05551052 | Not specified | ACTIVE_NOT_RECRUITING | CRC Detection Reliable Assessment With Blood |
| NCT05822895 | Not specified | RECRUITING | Review of the Impact of a Computer-aided Real-time Polyp Detection System on Adult Colonoscopy |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FOSPROPOFOL DISODIUM | 4 | 3 |
| PICOSULFURIC ACID | 4 | 3 |
| PRUCALOPRIDE | 4 | 2 |
| EPINEPHRINE | 4 | 1 |
| MIDAZOLAM HYDROCHLORIDE | 4 | 1 |
| REMIMAZOLAM BESYLATE | 4 | 1 |
| SIMETHICONE | 4 | 1 |
| SODIUM PHOSPHATE, DIBASIC, ANHYDROUS | 4 | 1 |
| PANCREATIN | 3 | 1 |
| PEPPERMINT OIL | 3 | 1 |
| POLYETHYLENE GLYCOL | 3 | 1 |
| POLYETHYLENE GLYCOL 4000 | 3 | 1 |
| PROFLAVINE | 2 | 4 |
| RACEPINEPHRINE | 2 | 1 |