Gallbladder disease 4

Summary

Gallbladder disease 4 (MONDO:1010151) is a disease with 2 cohort genes and 35 clinical trials. Top therapeutic interventions include ursodiol, bupivacaine, and obeticholic acid.

At a glance

• Cohort genes: 2
• ClinVar variants: 17
• Clinical trials: 35

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	gallbladder disease 4
Mondo ID	MONDO:1010151
OMIM	611465
UMLS	C1969115
MedGen	370601
Is cancer (heuristic)	no

Also known as: gallbladder disease 4 · gallbladder disease type 4 · gallstones · GBD4

Data availability: 17 ClinVar variants.

Disease family

Classification path: disease susceptibility › inherited disease susceptibility › gallbladder disease 4

Related subtypes (283): microvascular complications of diabetes, susceptibility, Mycobacterium tuberculosis, susceptibility, bacteremia, susceptibility, pregnancy loss, recurrent, susceptibility, autoimmune thyroid disease, susceptibility to, susceptibility to HIV infection, appendicitis, proneness to, atherosclerosis susceptibility, multiple sclerosis, susceptibility to, dyslexia, susceptibility to, 1, endometriosis, susceptibility to, 1, osteoarthritis susceptibility 2, essential hypertension, genetic, osteoarthritis susceptibility 1, otitis media, susceptibility to, pelvic organ prolapse, susceptibility to, pulmonary edema of mountaineers, susceptibility to, sarcoidosis, susceptibility to, 1, strabismus, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 1, predisposition to invasive fungal disease due to CARD9 deficiency, celiac disease, susceptibility to, 1, hemolytic uremic syndrome, atypical, susceptibility to, 1, hypervitaminosis a, susceptibility to, kuru, susceptibility to, leprosy, susceptibility to, 3, nonarteritic anterior ischemic optic neuropathy, susceptibility to, diabetes mellitus, insulin-dependent, X-linked, susceptibility to, coronary heart disease, susceptibility to, 3, dyslexia, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 15, Leber optic atrophy, susceptibility to, dyslexia, susceptibility to, 2, Helicobacter pylori infection, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 1, inherited susceptibility to asthma, renal dysplasia, cystic, susceptibility to, systemic lupus erythematosus, susceptibility to, 1, leishmaniasis, tegumentary, susceptibility to, xanthomatosis, susceptibility to, hyperlipidemia, combined, 1, urinary tract infections, recurrent, susceptibility to, hypertension, essential, susceptibility to, 1, hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection, dyslexia, susceptibility to, 3, Ascaris lumbricoides infection, susceptibility to, hypertension, essential, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 3, nephrolithiasis, uric acid, susceptibility to, atrioventricular septal defect, susceptibility to, 2, vitiligo-associated multiple autoimmune disease susceptibility 1, polysubstance abuse, susceptibility to, dyslexia, susceptibility to, 6, glaucoma, normal tension, susceptibility to, anorexia nervosa, susceptibility to, 1, stroke, susceptibility to, 1, dyslexia, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 2, familial meningioma, celiac disease, susceptibility to, 5, systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1, hypertension, essential, susceptibility to, 3, coronary heart disease, susceptibility to, 1, bulimia nervosa, susceptibility to, 1, leprosy, susceptibility to, 2, epilepsy, idiopathic generalized, susceptibility to, 9, Parkinson disease 11, autosomal dominant, susceptibility to, focal segmental glomerulosclerosis 3, susceptibility to, autoimmune disease, susceptibility to, 1, osteoarthritis susceptibility 3, systemic lupus erythematosus with nephritis, susceptibility to, 1, systemic lupus erythematosus with nephritis, susceptibility to, 2, systemic lupus erythematosus with nephritis, susceptibility to, 3, coronary heart disease, susceptibility to, 2, coronary heart disease, susceptibility to, 4, autoimmune disease, susceptibility to, 2, autoimmune disease, susceptibility to, 3, systemic lupus erythematosus, susceptibility to, 4, myocardial infarction, susceptibility to, major depressive disorder 1, legionnaire disease, susceptibility to, myocardial infarction, susceptibility to, 2, major depressive disorder 2, hypertension, essential, susceptibility to, 4, epilepsy, idiopathic generalized, susceptibility to, 3, myoclonic epilepsy, juvenile, susceptibility to, 3, orofacial cleft 6, susceptibility to, coronary heart disease, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 1, attention deficit-hyperactivity disorder, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 3, attention deficit-hyperactivity disorder, susceptibility to, 4, Alzheimer disease 9, susceptibility to respiratory infections associated with CD8alpha chain mutation, dyslexia, susceptibility to, 8, autoimmune disease, susceptibility to, 4, hepatitis C virus, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 4, celiac disease, susceptibility to, 4, celiac disease, susceptibility to, 2, celiac disease, susceptibility to, 3, leprosy, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 5, systemic lupus erythematosus, susceptibility to, 6, opioid dependence, susceptibility to, 1, systemic lupus erythematosus, susceptibility to, 7, systemic lupus erythematosus, susceptibility to, 8, hypertension, essential, susceptibility to, 5, hypertension, essential, susceptibility to, 6, Parkinson disease 13, autosomal dominant, susceptibility to, West Nile virus, susceptibility to, hepatitis B virus, susceptibility to, Buruli ulcer, susceptibility to, osteoarthritis susceptibility 4, systemic lupus erythematosus, susceptibility to, 9, coronary heart disease, susceptibility to, 7, hypertension, essential, susceptibility to, 7, leprosy, susceptibility to, 4, hypertension, essential, susceptibility to, 8, epilepsy, idiopathic generalized, susceptibility to, 13, coronary heart disease, susceptibility to, 8, myoclonic epilepsy, juvenile, susceptibility to, 4, susceptibility to visceral leishmaniasis, 2, susceptibility to visceral leishmaniasis, 3, celiac disease, susceptibility to, 6, epilepsy, idiopathic generalized, susceptibility to, 5, epilepsy, childhood absence, susceptibility to, 6, celiac disease, susceptibility to, 7, celiac disease, susceptibility to, 8, celiac disease, susceptibility to, 9, celiac disease, susceptibility to, 10, celiac disease, susceptibility to, 11, celiac disease, susceptibility to, 12, celiac disease, susceptibility to, 13, coronary heart disease, susceptibility to, 9, systemic lupus erythematosus, susceptibility to, 10, systemic lupus erythematosus, susceptibility to, 11, systemic lupus erythematosus, susceptibility to, 12, epilepsy, childhood absence, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 5, attention deficit-hyperactivity disorder, susceptibility to, 6, systemic lupus erythematosus, susceptibility to, 13, sarcoidosis, susceptibility to, 2, sarcoidosis, susceptibility to, 3, osteoarthritis susceptibility 5, osteoarthritis susceptibility 6, focal segmental glomerulosclerosis 4, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 8, herpes simplex encephalitis, susceptibility to, 2, attention deficit-hyperactivity disorder, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 10, pelvic organ prolapse, susceptibility to, 2, systemic lupus erythematosus, susceptibility to, 14, leprosy, susceptibility to, 5, thyrotoxic periodic paralysis, susceptibility to, 2, hearing loss, cisplatin-induced, susceptibility to, susceptibility to mononeuropathy of the median nerve, mild, fatty liver disease, nonalcoholic, susceptibility to, 2, leprosy, susceptibility to, 6, autoimmune disease, susceptibility to, 6, Parkinson disease 5, autosomal dominant, susceptibility to, aspergillosis, susceptibility to, sick sinus syndrome 3, susceptibility to, Parkinson disease 18, autosomal dominant, susceptibility to, epilepsy, juvenile myoclonic, susceptibility to, 9, dengue virus, susceptibility to, coronary heart disease, susceptibility to, 6, podoconiosis, susceptibility to, peripartum cardiomyopathy, susceptibility to, influenza, severe, susceptibility to, thyrotoxic periodic paralysis, susceptibility to, 3, human herpesvirus 8, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 12, herpes simplex encephalitis, susceptibility to, 3, herpes simplex encephalitis, susceptibility to, 4, pulmonary hypertension, neonatal, susceptibility to, craniosynostosis 5, susceptibility to, melioidosis, susceptibility to, chronic mountain sickness, susceptibility to, herpes simplex encephalitis, susceptibility to, 7, epilepsy, idiopathic generalized, susceptibility to, 14, hereditary neoplastic syndrome, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency, susceptibility to localized juvenile periodontitis, inherited susceptibility to mycobacterial diseases, neural tube defects, susceptibility to, multiple system atrophy 1, susceptibility to, nephrolithiasis susceptibility caused by SLC26A1, myoclonic epilepsy, juvenile, susceptibility to, 1, epilepsy, childhood absence, susceptibility to, 1, autism, susceptiblity to, susceptibility to visceral leishmaniasis, 1, malaria, susceptibility to, spondyloarthropathy, susceptibility to, herpes simplex encephalitis, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 18, epilepsy, idiopathic generalized, susceptibility to, 15, hepatitis, fulminant viral, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 16, autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency, aortic aneurysm, familial thoracic 11, susceptibility to, craniosynostosis 7, amyotrophic lateral sclerosis, susceptibility to, 24, amyotrophic lateral sclerosis, susceptibility to, 25, epilepsy, juvenile myoclonic, susceptibility to, 10, susceptibility to angioedema induced by ACE inhibitors, epidermodysplasia verruciformis, susceptibility to, exfoliation syndrome, susceptibility to, basal cell carcinoma, susceptibility to, graft-versus-host disease, susceptibility to, narcolepsy, susceptibility to, pulmonary disease, chronic obstructive, susceptibility to, restless legs syndrome, susceptibility to, psoriasis, susceptibility to, age related macular degeneration, susceptibility to, allergic rhinitis, susceptibility to, dermatitis, atopic, susceptibility to, Hirschsprung disease, susceptibility to, diabetes mellitus, ketosis-prone, schizophrenia, susceptibility to, radioulnar synostosis, nonsyndromic, susceptibility to, lumbar disk herniation, susceptibility to, lumbar disk degeneration, susceptibility to, psoriatic arthritis, susceptibility to, migraine with or without aura, susceptibility to, Alzheimer disease, susceptibility to, mitochondrial, Asperger syndrome, susceptibility to, tobacco addiction, susceptibility to, lipodystrophy, partial, acquired, susceptibility to, Graves disease, susceptibility to, 1, epilepsy, idiopathic generalized, susceptibility to, 17, breast-ovarian cancer, familial, susceptibility to, blepharospasm, benign essential, susceptibility to, hemorrhage, intracerebral, susceptibility to, IgA nephropathy, susceptibility to, hemolytic uremic syndrome, atypical, susceptibility to, 7, vitiligo-associated multiple autoimmune disease susceptibility 6, delayed sleep phase syndrome, susceptibility to, encephalitis, acute, infection-induced, susceptibility to, malignant hyperthermia, susceptibility to, multicentric Castleman disease, susceptibility to, pelvic organ prolapse, susceptibility to, 1, amyotrophic lateral sclerosis, susceptibility to, 13, Graves disease, susceptibility to, X-linked 2, autoimmune thyroid disease, susceptibility to, 5, atrioventricular septal defect, susceptibility to, 1, epilepsy, juvenile myoclonic, susceptibility to, 6, autoimmune disease, susceptibility to, 5, epilepsy, idiopathic generalized, susceptibility to, 6, seasonal affective disorder, susceptibility to, ventricular fibrillation during myocardial infarction, susceptibility to, UV-induced skin damage, susceptibility to, antisocial behavior, susceptibility to, aplastic anemia, susceptibility to, cardiomyopathy, familial hypertrophic, 4, susceptibility to, cirrhosis, noncryptogenic, susceptibility to, coronary artery disease, severe, susceptibility to, dengue fever, susceptibility to, dengue hemorrhagic fever, susceptibility to, dengue shock syndrome, susceptibility to, dyslexia, susceptibility to, 4, dyslexia, susceptibility to, 7, efavirenz central nervous system toxicity, susceptibility to, obesity, susceptibility to, bleeding disorder, platelet-type, 13, susceptibility to, Schistosoma mansoni infection, susceptibility/resistance to, Parkinson disease 24, autosomal dominant, susceptibility to, iron overload, susceptibility to, hydrocephalus, congenital, 5, susceptibility to, hearing loss, noise-induced, susceptibility to, hyperemesis gravidarum, susceptibility to, Parkinson disease 26, autosomal dominant, susceptibility to, epilepsy, idiopathic generalized, susceptibility to, 19, polycystic kidney disease 9, susceptibility to, rhabdomyolysis, susceptibility to, scoliosis, isolated, susceptibility to, dystonia 38, susceptibility to, epilepsy, juvenile absence, susceptibility to, GBA1-related Parkinson disease, susceptibility, SH2B3-related immune system disorder

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

17 retrieved; paginated sample, class counts are floors:

8 conflicting classifications of pathogenicity, 5 uncertain significance, 1 likely benign, 1 benign/likely benign, 1 pathogenic/likely pathogenic, 1 benign/likely benign; association

ClinVar	Variant (HGVS)	Gene	Classification	Review
4967	NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)	ABCG8	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
198901	NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
282034	NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
288464	NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
291264	NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
497784	NM_022437.3(ABCG8):c.1411+8T>A	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
500519	NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
501909	NM_022437.3(ABCG8):c.1212-7T>A	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
596119	NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)	ABCG8	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1428638	NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)	ABCG8	Uncertain significance	criteria provided, multiple submitters, no conflicts
496966	NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)	ABCG8	Uncertain significance	criteria provided, multiple submitters, no conflicts
497879	NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)	ABCG8	Uncertain significance	criteria provided, multiple submitters, no conflicts
500378	NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp)	ABCG8	Uncertain significance	criteria provided, multiple submitters, no conflicts
500866	NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)	ABCG8	Uncertain significance	criteria provided, multiple submitters, no conflicts
4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5	Benign/Likely benign; association	criteria provided, multiple submitters, no conflicts
1672412	NM_022437.3(ABCG8):c.384G>A (p.Lys128=)	ABCG8	Likely benign	criteria provided, multiple submitters, no conflicts
336083	NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)	ABCG8	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ABCG5	Orphanet:2882	Sitosterolemia
ABCG5	Orphanet:391665	Homozygous familial hypercholesterolemia
ABCG8	Orphanet:2882	Sitosterolemia
ABCG8	Orphanet:391665	Homozygous familial hypercholesterolemia

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ABCG5	HGNC:13886	ENSG00000138075	Q9H222	ATP-binding cassette sub-family G member 5	clinvar
ABCG8	HGNC:13887	ENSG00000143921	Q9H221	ATP-binding cassette sub-family G member 8	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ABCG5	ATP-binding cassette sub-family G member 5	ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane.
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: 2 · 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	2	77.8×	2e-04

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ABCG5	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC2_TM
ABCG8	Transporter	yes		ABC_transporter-like_ATP-bd, ABC2_TM, ABC_transporter-like_CS

Expression context

Cohort genes with no expression data: 0.

2 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
jejunal mucosa	2
right lobe of liver	2
duodenum	1
liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ABCG5	61	tissue_specific	marker	jejunal mucosa, right lobe of liver, duodenum
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
ABCG5	1,996
ABCG8	1,920

Intra-cohort edges

A	B	Sources
ABCG5	ABCG8	biogrid_interaction, intact, string_interaction

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABCG5	Q9H222	8
ABCG8	Q9H221	8

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 12. Enrichment computed across 2 evidence-associated genes (2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective ABCG8 causes GBD4 and sitosterolemia	2	5710.0×	9e-08	ABCG5, ABCG8
Defective ABCG5 causes sitosterolemia	2	5710.0×	9e-08	ABCG5, ABCG8
ABC transporters in lipid homeostasis	2	601.0×	1e-05	ABCG5, ABCG8
ABC transporter disorders	2	439.2×	1e-05	ABCG5, ABCG8
NR1H2 and NR1H3-mediated signaling	2	393.8×	1e-05	ABCG5, ABCG8
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	2	308.6×	2e-05	ABCG5, ABCG8
Disorders of transmembrane transporters	2	139.3×	9e-05	ABCG5, ABCG8
ABC-family protein mediated transport	2	121.5×	1e-04	ABCG5, ABCG8
Signaling by Nuclear Receptors	2	102.0×	1e-04	ABCG5, ABCG8
Transport of small molecules	2	25.1×	0.002	ABCG5, ABCG8
Disease	2	13.1×	0.006	ABCG5, ABCG8
Signal Transduction	2	10.2×	0.010	ABCG5, 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 2 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 intestinal phytosterol absorption	2	8426.0×	5e-08	ABCG5, ABCG8
negative regulation of intestinal cholesterol absorption	2	8426.0×	5e-08	ABCG5, ABCG8
sterol transport	2	2808.7×	5e-07	ABCG5, ABCG8
intestinal cholesterol absorption	2	1404.3×	2e-06	ABCG5, ABCG8
response to muscle activity	2	581.1×	7e-06	ABCG5, ABCG8
cholesterol efflux	2	526.6×	8e-06	ABCG5, ABCG8
triglyceride homeostasis	2	481.5×	8e-06	ABCG5, ABCG8
response to nutrient	2	295.6×	2e-05	ABCG5, ABCG8
transmembrane transport	2	168.5×	5e-05	ABCG5, ABCG8
cholesterol homeostasis	2	156.0×	5e-05	ABCG5, ABCG8
response to xenobiotic stimulus	2	69.1×	2e-04	ABCG5, ABCG8
phospholipid transport	1	351.1×	0.003	ABCG8
response to ionizing radiation	1	205.5×	0.005	ABCG5

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 0 of 2 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ABCG5	0	0
ABCG8	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; 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	2	ABCG5, ABCG8
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
ABCG5	0	—
ABCG8	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 35.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	29
PHASE2	3
PHASE4	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01822262	PHASE4	UNKNOWN	Contrastive Study for Minimally Invasive Cholecystolithotomy With Gallbladder Reservation and Laparoscopic Cholecystectomy
NCT02472509	PHASE4	TERMINATED	The Role of Ursodeoxycholic Acid in Treatment of Gallstones in Hemolytic Disorders
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
NCT06926374	Not specified	RECRUITING	Prospective Evaluation of Cornerstone Robotics Sentire Surgical System in Major Gastrointestinal and Urologic Surgery
NCT07119203	Not specified	RECRUITING	Surgical Techniques: Robotic Versus Conventional Laparoscopic Cholecystectomy IN Benign Gallbladder Disease
NCT07245108	Not specified	RECRUITING	The Pro-Chol Study
NCT07480785	Not specified	RECRUITING	TEAS Combined With Triple Antiemetic Drugs to Prevent PONV in High-Risk Patients
NCT00460980	Not specified	WITHDRAWN	Effect of Virtual Reality Training by Novices on Laparoscopic Cholecystectomy in a Porcine Model
NCT00528632	Not specified	COMPLETED	Gallbladder Cholesterolosis, Body Mass Index and Serum Cholesterol and Triglycerides
NCT00530998	Not specified	COMPLETED	Minimally Invasive Surgery: Using Natural Orfices
NCT01010685	Not specified	WITHDRAWN	Safety Study of Keyhole Gallbladder Surgery With Removal of Gallbladder Via the Stomach Rather Than Through the Skin
NCT01039129	Not specified	WITHDRAWN	Hybrid Transvaginal-Transabdominal Endoscopic Surgery
NCT01190280	Not specified	COMPLETED	Indications for Gallbladder Surgery in Gallstone Disease
NCT01195285	Not specified	TERMINATED	Single-Incision Laparoscopic Cholecystectomy Versus Traditional Laparoscopic Cholecystectomy
NCT01232959	Not specified	WITHDRAWN	Feasibility of Transvaginal Cholecystectomy
NCT01410734	Not specified	COMPLETED	Fluorescence Imaging on the da Vinci Surgical System for Intra-operative Near Infrared Imaging of the Biliary Tree (up to 2-weeks Post-operatively)
NCT01438385	Not specified	UNKNOWN	Interventional Endoscopy Database for Pancreatico-biliary, Gastrointestinal and Esophageal Disorders
NCT01709877	Not specified	UNKNOWN	EndoCone Single Port Versus Conventional Multi-port Laparoscopic Approach
NCT01972620	Not specified	COMPLETED	RCT: Multi-modal Analgesia for Laparoscopic Cholecystectomy
NCT02133027	Not specified	UNKNOWN	Role of the Right Portal Pedicle and Rouviere’s Sulcus as an Anatomic Landmark in Laparoscopic Cholecystectomy
NCT02344654	Not specified	COMPLETED	Fluorescence Cholangiography During Cholecystectomy - a RCT
NCT02469935	Not specified	COMPLETED	Accuracy of Surgeon-performed Ultrasound in Detecting Gallstones - a Validation Study
NCT02554097	Not specified	UNKNOWN	Chinese Registry Study on Treatment of Cholecysto-Choledocholithiasis
NCT02667249	Not specified	COMPLETED	Compliance of Clinical Pathways in Elective Laparoscopic Cholecystectomy: Evaluation of Different Implementation Methods
NCT02831556	Not specified	COMPLETED	Point of Care 3D Ultrasound for Various Applications: A Pilot Study
NCT02858986	Not specified	COMPLETED	3D Versus 4K Laparoscopic Cholecystectomy
NCT03247101	Not specified	UNKNOWN	Probiotics for Gallstones in Post-bariatric Surgery Patients：A Prospective Randomized Trial
NCT03809559	Not specified	COMPLETED	Repeatability and Reproducibility of Quantitative MRCP
NCT03891147	Not specified	UNKNOWN	A Clinical Trial of Electro-acupuncture for Treating Gallstone Diseases
NCT04250402	Not specified	COMPLETED	The Incidence of Gallstones After Gastric Cancer Surgery
NCT05592795	Not specified	UNKNOWN	Explore the Effects and Mechanisms of ERCP and EST on Biliary Microecology
NCT06385860	Not specified	UNKNOWN	Prediction Model for Early Biliary Stasis After Bariatric Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
URSODIOL	4	3
BUPIVACAINE	4	1
OBETICHOLIC ACID	4	1
ICOMIDOCHOLIC ACID	3	1
CHEMBL5409583	0	1
CHEMBL4303680	0	1
CHEMBL5197244	0	1
CHEMBL5412701	0	1