Summary
Cholelithiasis (MONDO:0012672) is a disease with 3 cohort genes (233 GWAS associations across 60 studies) and 141 clinical trials. Top therapeutic interventions include ursodiol, ondansetron, and acetaminophen.
At a glance
- Cohort genes: 3
- GWAS associations: 233
- Clinical trials: 141
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | cholelithiasis |
| Mondo ID | MONDO:0012672 |
| EFO | EFO:0004799 |
| MeSH | D002769 |
| DOID | DOID:10211 |
| ICD-10-CM | K80 |
| ICD-11 | 1268183934 |
| NCIT | C122822 |
| SNOMED CT | 266474003 |
| UMLS | C0008350 |
| MedGen | 3039 |
| Is cancer (heuristic) | no |
Also known as: gallstones
Data availability: 233 GWAS associations (60 studies).
Disease family
An umbrella term covering 4 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › cholelithiasis
Related subtypes (14): bile duct disorder, biliary tract neoplasm, gallstones, primary biliary cholangitis, bile reflux, postcholecystectomy syndrome, Alagille syndrome, isolated agenesis of gallbladder, ketamine-induced biliary dilatation, follicular cholangitis and pancreatitis, idiopathic ductopenia, Caroli syndrome, isolated congenital hepatic fibrosis, Rokitansky-Aschoff sinuses of the gallbladder
Subtypes (4): cholecystolithiasis, choledocholithiasis, gallbladder disease 1, primary intrahepatic lithiasis
Genetics & variants
GWAS landscape
233 GWAS associations across 60 studies. Top hits map to 25 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| rs56266464 | 1e-300 | ABCG5 | ? | 1.95 |
| rs11887534 | 1e-176 | ABCG8 | C | 0.75 |
| rs4299376 | 3e-116 | ABCG8 | ? | 0.77 |
| rs4681515 | 9e-53 | TM4SF4 | G | 0.13 |
| rs72800950 | 2e-51 | LRPPRC - PPM1B-DT | ? | 1.69 |
| chr2:44069772 | 3e-46 | | G | 0.25 |
| rs4148325 | 6e-41 | UGT1A10, UGT1A4, UGT1A6, UGT1A5, UGT1A7, UGT1A1, UGT1A3, UGT1A8, UGT1A9 | C | 0.13 |
| rs78451356 | 7e-41 | DYNC2LI1 | ? | 0.82 |
| rs2081687 | 6e-39 | UBXN2B - CYP7A1 | C | 0.12 |
| rs1800961 | 2e-38 | HNF4A | T | 0.32 |
| chr3:149493725 | 6e-38 | | A | 0.1 |
| rs6720173 | 3e-37 | ABCG5 | ? | 1.19 |
| chr19:47871693 | 5e-37 | | A | 0.14 |
| rs2290846 | 1e-36 | LRBA | A | 0.12 |
| rs4148805 | 2e-36 | ABCB4 | A | 0.14 |
| chr8:58464798 | 7e-36 | | A | 0.11 |
| chr7:87501081 | 1e-32 | | T | 0.14 |
| rs62129966 | 5e-32 | SULT2A1 | A | 0.16 |
| chr4:150277928 | 6e-31 | | A | 0.1 |
| rs2954805 | 1e-29 | ABCG8 | ? | 1.14 |
| rs10426201 | 2e-28 | SULT2A1 | ? | 0.85 |
| chr20:44413724 | 2e-28 | | T | 0.24 |
| chr10:45485736 | 4e-28 | | C | 0.1 |
| rs62272021 | 2e-27 | TM4SF4 | A | 0.43 |
| rs17209837 | 1e-26 | ABCB4 - ABCB1 | ? | 0.85 |
| rs887829 | 5e-25 | UGT1A6, UGT1A7, UGT1A8, UGT1A5, UGT1A10, UGT1A9, UGT1A4, UGT1A3 | A | 0.19 |
| rs11239549 | 7e-25 | MARCHF8 | G | 0.11 |
| rs2638280 | 5e-24 | FUT2 - MAMSTR | ? | 0.9 |
| chr12:120984645 | 5e-24 | | T | 0.08 |
| rs983812 | 1e-23 | UBXN2B - CYP7A1 | ? | 1.12 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST90432140 | Jiang Y | 2023 | 116,382 | 213,325 | A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders. |
| GCST90473879 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 33,249 | 425,191 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90018819 | Sakaue S | 2021 | 26,122 | 461,431 | A cross-population atlas of genetic associations for 220 human phenotypes. |
| GCST90476100 | Verma A | 2024 | 23,182 | 416,631 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476101 | Verma A | 2024 | 18,237 | 421,370 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080297 | Backman JD | 2021 | 17,665 | 367,776 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084283 | Backman JD | 2021 | 17,665 | 367,776 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90297596 | Auwerx C | 2024 | 17,496 | 305,627 | Rare copy-number variants as modulators of common disease susceptibility. |
| GCST90297650 | Auwerx C | 2024 | 17,496 | 305,627 | Rare copy-number variants as modulators of common disease susceptibility. |
| GCST90297702 | Auwerx C | 2024 | 17,496 | 305,627 | Rare copy-number variants as modulators of common disease susceptibility. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 6 |
| Tier 2: splice/UTR | 2 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 42 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 33 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 0 |
| unknown | 16 |
Functional consequences
| Consequence | Count |
|---|
| intron_variant | 18 |
| unknown | 15 |
| intergenic_variant | 9 |
| missense_variant | 6 |
| 3_prime_UTR_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| rs75331444 | 2 | 43842633 | G>A | 0.05 | intron_variant | ABCG8 | | Tier 4: intronic/intergenic |
| chr2:43839108 | | | | | | | | Tier 4: intronic/intergenic |
| rs56266464 | 2 | 43827852 | G>A,C | 0.05 | intron_variant | ABCG5 | 1e-300 | Tier 4: intronic/intergenic |
| rs11887534 | 2 | 43839108 | G>A,C | 0.066 | missense_variant | ABCG8 | 1e-176 | Tier 1: coding |
| rs4299376 | 2 | 43845437 | G>C,T | 0.05 | intron_variant | ABCG8 | 3e-116 | Tier 4: intronic/intergenic |
| rs4681515 | 3 | 149494289 | A>G | 0.05 | intron_variant | TM4SF4 | 9e-53 | Tier 4: intronic/intergenic |
| rs72800950 | 2 | 44112677 | T>A | | intergenic_variant | LRPPRC - PPM1B-DT | 2e-51 | Tier 4: intronic/intergenic |
| chr2:44069772 | | | | 0.067 | | | 3e-46 | Tier 4: intronic/intergenic |
| rs4148325 | 2 | 233764663 | C>T | 0.324 | intron_variant | UGT1A10, UGT1A4, UGT1A6, UGT1A5, UGT1A7, UGT1A1, UGT1A3, UGT1A8, UGT1A9 | 6e-41 | Tier 4: intronic/intergenic |
| rs78451356 | 2 | 43806615 | T>A,G | 0.05 | intron_variant | DYNC2LI1 | 7e-41 | Tier 4: intronic/intergenic |
| rs2081687 | 8 | 58476006 | T>A,C,G | 0.05 | intergenic_variant | UBXN2B - CYP7A1 | 6e-39 | Tier 4: intronic/intergenic |
| rs1800961 | 20 | 44413724 | C>T | 0.05 | missense_variant | HNF4A | 2e-38 | Tier 1: coding |
| chr3:149493725 | | | | | | | 6e-38 | Tier 4: intronic/intergenic |
| rs6720173 | 2 | 43813262 | G>C | 0.05 | missense_variant | ABCG5 | 3e-37 | Tier 1: coding |
| chr19:47871693 | | | | | | | 5e-37 | Tier 4: intronic/intergenic |
| rs2290846 | 4 | 150277928 | G>A | 0.05 | missense_variant | LRBA | 1e-36 | Tier 1: coding |
| rs4148805 | 7 | 87477049 | G>A,T | 0.05 | intergenic_variant | ABCB4 | 2e-36 | Tier 4: intronic/intergenic |
| chr8:58464798 | | | | | | | 7e-36 | Tier 4: intronic/intergenic |
| chr7:87501081 | | | | | | | 1e-32 | Tier 4: intronic/intergenic |
| rs62129966 | 19 | 47871693 | C>A,T | 0.05 | intron_variant | SULT2A1 | 5e-32 | Tier 4: intronic/intergenic |
| chr4:150277928 | | | | | | | 6e-31 | Tier 4: intronic/intergenic |
| rs2954805 | 2 | 43882019 | G>A,C | 0.05 | 3_prime_UTR_variant | ABCG8 | 1e-29 | Tier 2: splice/UTR |
| rs10426201 | 19 | 47881492 | G>A,T | 0.05 | intron_variant | SULT2A1 | 2e-28 | Tier 4: intronic/intergenic |
| chr20:44413724 | | | | | | | 2e-28 | Tier 4: intronic/intergenic |
| chr10:45485736 | | | | | | | 4e-28 | Tier 4: intronic/intergenic |
| rs62272021 | 3 | 149487795 | G>A | 0.044 | intron_variant | TM4SF4 | 2e-27 | Tier 4: intronic/intergenic |
| rs17209837 | 7 | 87495506 | T>C | 0.05 | intergenic_variant | ABCB4 - ABCB1 | 1e-26 | Tier 4: intronic/intergenic |
| rs887829 | 2 | 233759924 | C>A,G,T | 0.45 | intron_variant | UGT1A6, UGT1A7, UGT1A8, UGT1A5, UGT1A10, UGT1A9, UGT1A4, UGT1A3 | 5e-25 | Tier 4: intronic/intergenic |
| rs11239549 | 10 | 45523383 | A>G | 0.05 | intron_variant | MARCHF8 | 7e-25 | Tier 4: intronic/intergenic |
| rs2638280 | 19 | 48706061 | G>A | 0.05 | intergenic_variant | FUT2 - MAMSTR | 5e-24 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 5 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| UGT1A1 | Orphanet:2312 | Transient familial neonatal hyperbilirubinemia |
| UGT1A1 | Orphanet:79234 | Crigler-Najjar syndrome type 1 |
| UGT1A1 | Orphanet:79235 | Crigler-Najjar syndrome type 2 |
| ABCG8 | Orphanet:2882 | Sitosterolemia |
| ABCG8 | Orphanet:391665 | Homozygous familial hypercholesterolemia |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| UGT1A1 | HGNC:12530 | ENSG00000241635 | P22309 | UDP-glucuronosyltransferase 1A1 | gwas |
| UGT1A10 | HGNC:12531 | ENSG00000242515 | Q9HAW8 | UDP-glucuronosyltransferase 1A10 | gwas |
| ABCG8 | HGNC:13887 | ENSG00000143921 | Q9H221 | ATP-binding cassette sub-family G member 8 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| UGT1A1 | UDP-glucuronosyltransferase 1A1 | UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite’s water solubility, thereby facilitating excretion into eit… |
| UGT1A10 | UDP-glucuronosyltransferase 1A10 | UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite’s water solubility, thereby facilitating excretion into eit… |
| ABCG8 | ATP-binding cassette sub-family G member 8 | ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. |
Protein-family classification
Druggable: 3 · 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 |
|---|
| Transporter | 1 | 25.9× | 0.038 |
| Enzyme (other) | 2 | 8.0× | 0.038 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| UGT1A1 | Enzyme (other) | yes | 2.4.1.17 | UDP_glucos_trans, UDP_glycos_trans_CS, UDP-glycosyltransferase |
| UGT1A10 | Enzyme (other) | yes | 2.4.1.17 | UDP_glucos_trans, UDP_glycos_trans_CS, UDP-glycosyltransferase |
| ABCG8 | Transporter | yes | | ABC_transporter-like_ATP-bd, ABC2_TM, ABC_transporter-like_CS |
Expression context
Cohort genes with no expression data: 0.
3 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) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| duodenum | 2 |
| liver | 2 |
| right lobe of liver | 2 |
| mucosa of transverse colon | 1 |
| rectum | 1 |
| jejunal mucosa | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| UGT1A1 | 79 | tissue_specific | marker | duodenum, right lobe of liver, liver |
| UGT1A10 | 60 | tissue_specific | marker | mucosa of transverse colon, duodenum, rectum |
| ABCG8 | 66 | tissue_specific | marker | right lobe of liver, liver, jejunal mucosa |
Protein interactions among cohort
Intra-cohort edges: 1.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| ABCG8 | 1,920 |
| UGT1A1 | 1,446 |
| UGT1A10 | 1,373 |
Intra-cohort edges
| A | B | Sources |
|---|
| UGT1A1 | UGT1A10 | intact |
Structural data
PDB: 1 · AlphaFold-only: 2 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| ABCG8 | Q9H221 | 8 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|
| UGT1A10 | Q9HAW8 | 92.11 |
| UGT1A1 | P22309 | 91.19 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 3 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 |
|---|
| Glucuronidation | 2 | 507.6× | 8e-05 | UGT1A1, UGT1A10 |
| Paracetamol ADME | 2 | 282.0× | 1e-04 | UGT1A1, UGT1A10 |
| Defective UGT1A1 causes hyperbilirubinemia | 1 | 3806.7× | 0.001 | UGT1A1 |
| Defective ABCG8 causes GBD4 and sitosterolemia | 1 | 1903.3× | 0.002 | ABCG8 |
| Defective ABCG5 causes sitosterolemia | 1 | 1903.3× | 0.002 | ABCG8 |
| Heme degradation | 1 | 271.9× | 0.010 | UGT1A1 |
| ABC transporters in lipid homeostasis | 1 | 200.3× | 0.012 | ABCG8 |
| ABC transporter disorders | 1 | 146.4× | 0.014 | ABCG8 |
| NR1H2 and NR1H3-mediated signaling | 1 | 131.3× | 0.014 | ABCG8 |
| Aspirin ADME | 1 | 105.7× | 0.015 | UGT1A1 |
| NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux | 1 | 102.9× | 0.015 | ABCG8 |
| Disorders of transmembrane transporters | 1 | 46.4× | 0.030 | ABCG8 |
| ABC-family protein mediated transport | 1 | 40.5× | 0.032 | ABCG8 |
| Signaling by Nuclear Receptors | 1 | 34.0× | 0.035 | ABCG8 |
| Transport of small molecules | 1 | 8.4× | 0.130 | ABCG8 |
| Disease | 1 | 4.4× | 0.226 | ABCG8 |
| Signal Transduction | 1 | 3.4× | 0.267 | ABCG8 |
GO biological processes 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.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| flavone metabolic process | 2 | 11234.7× | 0e+00 | UGT1A1, UGT1A10 |
| glucuronate metabolic process | 2 | 5617.3× | 4e-07 | UGT1A1, UGT1A10 |
| negative regulation of fatty acid metabolic process | 2 | 2808.7× | 2e-06 | UGT1A1, UGT1A10 |
| liver development | 2 | 147.8× | 6e-04 | UGT1A1, UGT1A10 |
| bilirubin conjugation | 1 | 5617.3× | 1e-03 | UGT1A1 |
| toxin catabolic process | 1 | 5617.3× | 1e-03 | UGT1A10 |
| xenobiotic metabolic process | 2 | 99.4× | 1e-03 | UGT1A1, UGT1A10 |
| negative regulation of intestinal phytosterol absorption | 1 | 2808.7× | 0.001 | ABCG8 |
| pigment accumulation | 1 | 2808.7× | 0.001 | UGT1A1 |
| negative regulation of intestinal cholesterol absorption | 1 | 2808.7× | 0.001 | ABCG8 |
| negative regulation of steroid metabolic process | 1 | 2808.7× | 0.001 | UGT1A1 |
| hepatic stellate cell activation | 1 | 1872.4× | 0.002 | UGT1A1 |
| sterol transport | 1 | 936.2× | 0.003 | ABCG8 |
| connective tissue replacement | 1 | 802.5× | 0.003 | UGT1A1 |
| flavonoid metabolic process | 1 | 702.2× | 0.004 | UGT1A1 |
| heme catabolic process | 1 | 510.7× | 0.005 | UGT1A1 |
| intestinal cholesterol absorption | 1 | 468.1× | 0.005 | ABCG8 |
| response to arsenic-containing substance | 1 | 401.2× | 0.005 | UGT1A1 |
| protein heterooligomerization | 1 | 351.1× | 0.006 | UGT1A1 |
| retinoic acid metabolic process | 1 | 267.5× | 0.007 | UGT1A1 |
| phospholipid transport | 1 | 234.1× | 0.008 | ABCG8 |
| estrogen metabolic process | 1 | 208.1× | 0.009 | UGT1A1 |
| response to muscle activity | 1 | 193.7× | 0.009 | ABCG8 |
| xenobiotic catabolic process | 1 | 187.2× | 0.009 | UGT1A10 |
| cholesterol efflux | 1 | 175.5× | 0.009 | ABCG8 |
| digestive tract development | 1 | 175.5× | 0.009 | UGT1A1 |
| triglyceride homeostasis | 1 | 160.5× | 0.009 | ABCG8 |
| canonical NF-kappaB signal transduction | 1 | 122.1× | 0.011 | UGT1A1 |
| steroid metabolic process | 1 | 112.3× | 0.012 | UGT1A1 |
| response to nutrient | 1 | 98.5× | 0.013 | ABCG8 |
Therapeutics
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|
| Ursodiol | Phase 3 (in late-stage trials) |
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 1
Druggability breadth: 2 of 3 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 |
|---|
| UGT1A1 | ATAZANAVIR |
| UGT1A10 | DICLOFENAC |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| UGT1A1 | 12 | 4 |
| UGT1A10 | 2 | 4 |
| ABCG8 | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| UGT1A1 | 174 | ADMET:159, Binding:15 |
| UGT1A10 | 101 | ADMET:99, Binding:2 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| UGT1A1 | 2.4.1.17 | glucuronosyltransferase |
| UGT1A10 | 2.4.1.17 | glucuronosyltransferase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| UGT1A1 | 174 |
| UGT1A10 | 101 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 1.
Cohort genes with a CPIC/DPWG dosing guideline
| Symbol | CPIC guidelines |
|---|
| UGT1A1 | 1 |
Chemical tractability of cohort targets
13 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) |
|---|
| ATAZANAVIR | 4 | UGT1A1 |
| DICLOFENAC | 4 | UGT1A1, UGT1A10 |
| KETOCONAZOLE | 4 | UGT1A1 |
| LEVOTHYROXINE | 4 | UGT1A1 |
| RITONAVIR | 4 | UGT1A1 |
| ETHINYL ESTRADIOL | 4 | UGT1A1 |
| CARVEDILOL | 4 | UGT1A1 |
| HYMECROMONE | 2 | UGT1A1 |
| FIPRAVIRIMAT | 2 | UGT1A1 |
| NIFLUMIC ACID | 2 | UGT1A1 |
| DAIDZEIN | 2 | UGT1A1 |
| BAICALEIN | 2 | UGT1A1 |
| EPIESTRIOL | 2 | UGT1A10 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 2 | UGT1A1, UGT1A10 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | ABCG8 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 | |
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) |
|---|
| ABCG8 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 141.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 113 |
| PHASE4 | 14 |
| PHASE2 | 5 |
| PHASE3 | 4 |
| PHASE1 | 3 |
| PHASE1/PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT00042549 | PHASE4 | TERMINATED | Lithotripsy for the Treatment of Gallstones |
| NCT00674713 | PHASE4 | COMPLETED | Effect of Acupuncture on Postoperative Nausea and Vomiting |
| NCT00836316 | PHASE4 | COMPLETED | Levobupivacaine During Cholecystectomy |
| NCT01052727 | PHASE4 | UNKNOWN | Day-care Versus Overnight-stay Laparoscopic Cholecystectomy Randomized Controlled Trial. |
| NCT01104727 | PHASE4 | COMPLETED | Multi-Port Versus Single-port Cholecystectomy |
| NCT01339325 | PHASE4 | UNKNOWN | Laparo-endoscopic Single Site (LESS) Cholecystectomy Versus Standard LAP-CHOLE |
| NCT01397565 | PHASE4 | COMPLETED | Minilaparoscopic Versus Conventional Laparoscopic Cholecystectomy |
| NCT01822262 | PHASE4 | UNKNOWN | Contrastive Study for Minimally Invasive Cholecystolithotomy With Gallbladder Reservation and Laparoscopic Cholecystectomy |
| NCT01888822 | PHASE4 | TERMINATED | Antibiotic Prophylaxis in Laparoscopic Cholecystectomy |
| NCT02056678 | PHASE4 | WITHDRAWN | Outcome of IV Acetaminophen Use in Laparoscopic Cholecystectomies in Patients at Risk of OSA |
| NCT02363699 | PHASE4 | COMPLETED | Endovenous Lidocaine and Serum Cytokines Concentration |
| NCT02472509 | PHASE4 | TERMINATED | The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders |
| NCT03168555 | PHASE4 | COMPLETED | Changes in Bile Acid Homeostasis and Stool Habits After Cholecystectomy |
| NCT03180229 | PHASE4 | COMPLETED | Granisetron Effect on Hemodynamic Changes in Laparoscopic Cholecystectomy |
| NCT00835250 | PHASE3 | COMPLETED | Laparoscopic Cholecystectomy vs Hybrid Natural Orifice Translumenal Surgery |
| NCT01099319 | PHASE3 | COMPLETED | Renalof in the Treatment of Elderly Patients With Gallstones |
| NCT01558414 | PHASE3 | COMPLETED | Single Incision Laparoscopic Surgery vs Flexible Single Incision Surgery for Cholecystectomy |
| NCT02721862 | PHASE3 | UNKNOWN | Effectiveness of Ursodeoxycholic Acid Use in the Prevention of Gallstone Formation After Sleeve Gastrectomy |
| NCT07012772 | PHASE2 | RECRUITING | COMBO Endoscopy Oropharyngeal Airway in Sedated Endoscopic Retrograde Cholangiopancreatography for Patients |
| NCT07051980 | PHASE2 | RECRUITING | Feasibility and Safety of Supraglottic Oxygen Delivery Via an Endotracheal Tube for Non-intubated ERCP Anesthesia: A Two-Stage Phase II Clinical Study |
| NCT00710502 | PHASE1/PHASE2 | COMPLETED | Transvaginal NOTES Cholecystectomy: Phase I/II Mexico Clinical Trial |
| NCT00910325 | PHASE1/PHASE2 | TERMINATED | Natural Orifice Translumenal Endoscopic Surgery: Laparoscopic-Assisted Transvaginal Cholecystectomy |
| NCT01625026 | PHASE2 | COMPLETED | Obeticholic Acid in Bariatric and Gallstone Disease |
| NCT02325492 | PHASE2 | TERMINATED | Medical Dissolution of Cholesterol Gallstones Using Oral Aramchol - A Proof of Concept Phase IIa Study |
| NCT02947256 | PHASE2 | COMPLETED | Laparoscopic Cholecystectomy With Retro-infundibular Approach |
| NCT00240123 | PHASE1 | WITHDRAWN | Effect of Benadryl Sedation During ERCP or EUS |
| NCT00678873 | PHASE1 | COMPLETED | Single Incision Laparoscopic Cholecystectomy |
| NCT00815438 | PHASE1 | WITHDRAWN | Transvaginal Cholecystectomy Using Endoscopic Assistance |
| NCT05210322 | Not specified | ACTIVE_NOT_RECRUITING | Percutaneous Cholangiopancreatoscopy Registry |
| NCT06113419 | Not specified | RECRUITING | Timing of CHolecystectomy In Severe PAncreatitis |
| NCT06123117 | Not specified | RECRUITING | STALL vs Sole Local Wound Infiltration in Laparoscopic Cholecystectomy |
| NCT06468774 | Not specified | RECRUITING | Intestinal Ischemia Biomarker in Patients With Chronic Mesenteric Ischemia |
| NCT06852937 | Not specified | RECRUITING | Using da Vinci SP System for Patients With Cholelithiasis and Choledocholithiasis |
| NCT06873594 | Not specified | NOT_YET_RECRUITING | Comparison of Three Ports and Four Ports Laparoscopic Cholecystectomy |
| NCT06926374 | Not specified | RECRUITING | Prospective Evaluation of Cornerstone Robotics Sentire Surgical System in Major Gastrointestinal and Urologic Surgery |
| NCT07001423 | Not specified | RECRUITING | ChOlecystectomy aFter successFul Endoscopic Common Bile Duct Stone Extraction in Elderly |
| NCT07119203 | Not specified | RECRUITING | Surgical Techniques: Robotic Versus Conventional Laparoscopic Cholecystectomy IN Benign Gallbladder Disease |
| NCT07245108 | Not specified | RECRUITING | The Pro-Chol Study |
| NCT07308730 | Not specified | RECRUITING | Pain Diary Use After Laparoscopic Cholecystectomy |
| NCT07452848 | Not specified | RECRUITING | Impact of Pringle Maneuver on Postoperative Gallbladder Diseases After Hepatectomy |
Drugs tested across these trials (top 30)