Gallbladder disorder
diseaseOn this page
Also known as disease of gall bladderdisease or disorder of gall bladderdisorder of gall bladdergall bladder diseasegall bladder disease or disorderGall bladder disorder
Summary
Gallbladder disorder (MONDO:0005281) is a disease (an umbrella term covering 11 Mondo subtypes) with 7 GWAS associations across 21 studies and 13 clinical trials. A subtype of hepatobiliary disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 11 Mondo subtypes
- GWAS associations: 7
- Clinical trials: 13
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | gallbladder disorder |
| Mondo ID | MONDO:0005281 |
| EFO | EFO:0003832 |
| MeSH | D005705 |
| DOID | DOID:0060262 |
| ICD-10-CM | K82 |
| NCIT | C34631 |
| SNOMED CT | 39621005 |
| UMLS | C0016977 |
| MedGen | 8947 |
| Anatomy (UBERON) | UBERON:0002110 |
| Is cancer (heuristic) | no |
Also known as: disease of gall bladder · disease or disorder of gall bladder · disorder of gall bladder · gall bladder disease · gall bladder disease or disorder · Gall bladder disorder · gallbladder disorder
Data availability: 7 GWAS associations (21 studies).
Disease family
This is a subtype of hepatobiliary disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › gallbladder disorder
Related subtypes (3): hepatobiliary neoplasm, biliary tract disorder, liver disorder
Subtypes (11): cholesterolosis of gallbladder, cholecystitis, occlusion of gallbladder, hydrops of gallbladder, biliary dyskinesia, cholecystolithiasis, gallbladder neoplasm, polyp of gallbladder, Rokitansky-Aschoff sinuses of the gallbladder, hereditary gallbladder disorder, gallbladder duplication
Genetics & variants
GWAS landscape
7 GWAS associations across 21 studies. Top hits map to 5 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs531525204 | 3e-14 | ZNF385D | A | 4.42 |
| rs142550258 | 3e-13 | SNTB1-AS1 - RPL35AP19 | C | 1.82 |
| rs189647320 | 3e-11 | IRAG1-AS1 | G | 2.31 |
| rs559482615 | 3e-11 | GNG7 | G | 2.79 |
| rs139021969 | 4e-11 | PKD1L3 | C | 1.95 |
| rs74940280 | 1e-08 | LINC01075 - LINC01074 | ? | |
| rs150253877 | 6e-08 | GUCY2F | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90038628 | Donertas HM | 2021 | 8,587 | 476,011 | Common genetic associations between age-related diseases. |
| GCST90473882 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 4,528 | 453,912 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90478478 | Verma A | 2024 | 3,004 | 442,498 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080304 | Backman JD | 2021 | 2,278 | 385,325 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084290 | Backman JD | 2021 | 2,278 | 385,325 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436391 | Zhou W | 2018 | 1,412 | 391,307 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90080303 | Backman JD | 2021 | 1,358 | 386,568 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084289 | Backman JD | 2021 | 1,358 | 386,568 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90478477 | Verma A | 2024 | 577 | 120,082 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480354 | Verma A | 2024 | 577 | 120,082 | 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 | 0 |
| Tier 2: splice/UTR | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 6 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 5 |
| unknown | 2 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 5 |
| 3_prime_UTR_variant | 1 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs531525204 | 3 | 21778493 | A>G,T | 0 | intron_variant | ZNF385D | 3e-14 | Tier 4: intronic/intergenic |
| rs142550258 | 8 | 121274907 | C>A,T | 0.002 | intron_variant | SNTB1-AS1 - RPL35AP19 | 3e-13 | Tier 4: intronic/intergenic |
| rs189647320 | 11 | 10546518 | G>A | 0 | intron_variant | IRAG1-AS1 | 3e-11 | Tier 4: intronic/intergenic |
| rs559482615 | 19 | 2513928 | G>C | 0.001 | 3_prime_UTR_variant | GNG7 | 3e-11 | Tier 2: splice/UTR |
| rs139021969 | 16 | 71949421 | C>T | 0.001 | intron_variant | PKD1L3 | 4e-11 | Tier 4: intronic/intergenic |
| rs74940280 | 13 | 62269587 | A>C | intergenic_variant | LINC01075 - LINC01074 | 1e-08 | Tier 4: intronic/intergenic | |
| rs150253877 | X | 109432467 | T>C | intron_variant | GUCY2F | 6e-08 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 13.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 13 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06083558 | Not specified | RECRUITING | Pain and Nausea After Gallbladder Surgery |
| NCT00459472 | Not specified | TERMINATED | Operating Room Outcomes After Resident Training on a Virtual Reality Simulator |
| NCT01171027 | Not specified | UNKNOWN | Prospective Multicenter Human Randomized Controlled Evaluation of NOTES® Cholecystectomy |
| NCT01930344 | Not specified | COMPLETED | Investigating Three-Dimensional Versus Two-Dimensional Imaging in Laparoscopic Cholecystectomies |
| NCT02396927 | Not specified | UNKNOWN | 3D HD Versus 2D HD in Cholecystectomy |
| NCT03533322 | Not specified | UNKNOWN | Gall Bladder Status Among Children With Chronic Haemolytic Anemia |
| NCT03981315 | Not specified | UNKNOWN | Bile Composition in Healthy and Gallstones Patients |
| NCT05516056 | Not specified | UNKNOWN | ERAS After Cholecystectomy in Kigali, Rwanda |
| NCT05724277 | Not specified | COMPLETED | The Effect of Mindfulness Meditation and Virtual Reality on Laparoscopic Cholecystectomy Patients |
| NCT05769881 | Not specified | COMPLETED | Effects of Subcostal TAP Block and Local Anesthetic Infiltration After Laparoscopic Cholecystectomy |
| NCT05927870 | Not specified | UNKNOWN | Ultrasound Guided Percutaneous Cholecystostomy. |
| NCT05979233 | Not specified | UNKNOWN | One Session Vs Staged Management of Calcular Obstructive Jaundice |
| NCT06364865 | Not specified | COMPLETED | AE05ML Device for ML Hem-o-lok Polymer Clip Delivery in Laparoscopic Surgical Procedures Observational Registery Study |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.