Gallstones

Summary

Gallstones (MONDO:0005346) is a disease with 30 cohort genes (160 GWAS associations across 22 studies) and 35 clinical trials. Top therapeutic interventions include ursodiol, bupivacaine, and obeticholic acid.

At a glance

• Cohort genes: 30
• GWAS associations: 160
• ClinVar variants: 1
• Clinical trials: 35

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	gallstones
Mondo ID	MONDO:0005346
EFO	EFO:0004210
MeSH	D042882
SNOMED CT	235919008
UMLS	C0242216
MedGen	66850
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant · 160 GWAS associations (22 studies).

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › biliary tract disorder › gallstones

Related subtypes (14): bile duct disorder, biliary tract neoplasm, primary biliary cholangitis, bile reflux, postcholecystectomy syndrome, Alagille syndrome, isolated agenesis of gallbladder, cholelithiasis, ketamine-induced biliary dilatation, follicular cholangitis and pancreatitis, idiopathic ductopenia, Caroli syndrome, isolated congenital hepatic fibrosis, Rokitansky-Aschoff sinuses of the gallbladder

Subtypes (1): choledocholithiasis

Genetics & variants

GWAS landscape

160 GWAS associations across 22 studies. Top hits map to 40 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs56266464	1e-300	ABCG5	?
rs75331444	1e-300	ABCG8	?
rs4299376	4e-238	ABCG8	?
rs7598542	2e-161	ABCG8	?
rs13427362	2e-157	ABCG5	?
rs11887534	2e-75	ABCG8	C	1.78
rs7412	4e-68	APOE	?
rs4681515	1e-56	TM4SF4	?
rs17424122	3e-55	ABCG8	?
rs62129966	9e-52	SULT2A1	A	0.85
rs1800961	4e-50	HNF4A	T	1.34
rs7802555	9e-49	ABCB4 - ABCB1	C	0.85
rs429358	4e-47	APOE	?
rs2290846	5e-46	LRBA	A	1.13
rs28929474	4e-43	SERPINA1	?
rs983812	1e-42	UBXN2B - CYP7A1	T	0.9
rs970548	2e-35	MARCHF8	C	1.11
rs2244608	3e-32	HNF1A, HNF1A-AS1	?
rs601338	5e-32	FUT2	A	1.09
rs212100	2e-31	SULT2A1	?	1.16
rs4245791	5e-31	ABCG8	T	1.28
rs12633863	4e-30	TM4SF4	?	1.11
rs686030	4e-30	TTC39B	A	1.14
rs28601761	2e-29	TRIB1AL	?
rs7590687	4e-29	ABCG8	?
rs4148808	9e-28	ABCB4	?	1.16
rs2291428	2e-27	MARCHF8	?	1.12
rs2393791	8e-27	HNF1A	T	1.09
rs6471717	1e-25	UBXN2B - CYP7A1	?	1.11
rs11556924	1e-25	UBE2H-DT, ZC3HC1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90428731	Zhang L	2023	43,639	1,741,606	Impact of gallstone disease on the risk of stroke and coronary artery disease: evidence from prospective observational studies and genetic analyses.
GCST90428732	Zhang L	2023	43,639	1,490,966	Impact of gallstone disease on the risk of stroke and coronary artery disease: evidence from prospective observational studies and genetic analyses.
GCST90128518	Fairfield CJ	2021	43,639	506,798	Genome-wide analysis identifies gallstone-susceptibility loci including genes regulating gastrointestinal motility.
GCST007209	Ferkingstad E	2018	27,174	736,838	Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
GCST007364	Gellert-Kristensen H	2018	14,940	322,268	Identification and replication of six new loci associated with gallstone disease.
GCST90080295	Backman JD	2021	10,288	377,616	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084281	Backman JD	2021	10,288	377,616	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST003725	Joshi AD	2016	8,720	55,152	Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.
GCST90038629	Donertas HM	2021	7,895	476,703	Common genetic associations between age-related diseases.
GCST90077704	Backman JD	2021	7,669	324,085	Exome sequencing and analysis of 454,787 UK Biobank participants.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	13
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	35

MAF distribution

Bucket	Variants
common (>=0.05)	50
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	26
missense_variant	12
intergenic_variant	9
stop_gained	1
3_prime_UTR_variant	1
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11887534	2	43839108	G>A,C	0.05	missense_variant	ABCG8		Tier 1: coding
rs56266464	2	43827852	G>A,C	0.05	intron_variant	ABCG5	1e-300	Tier 4: intronic/intergenic
rs75331444	2	43842633	G>A	0.05	intron_variant	ABCG8	1e-300	Tier 4: intronic/intergenic
rs4299376	2	43845437	G>C,T	0.05	intron_variant	ABCG8	4e-238	Tier 4: intronic/intergenic
rs7598542	2	43866137	G>C	0.05	intron_variant	ABCG8	2e-161	Tier 4: intronic/intergenic
rs13427362	2	43817700	A>G	0.05	intron_variant	ABCG5	2e-157	Tier 4: intronic/intergenic
rs7412	19	44908822	C>T	0.05	missense_variant	APOE	4e-68	Tier 1: coding
rs4681515	3	149494289	A>G	0.05	intron_variant	TM4SF4	1e-56	Tier 4: intronic/intergenic
rs17424122	2	43848078	T>A,C,G	0.05	intron_variant	ABCG8	3e-55	Tier 4: intronic/intergenic
rs62129966	19	47871693	C>A,T	0.05	intron_variant	SULT2A1	9e-52	Tier 4: intronic/intergenic
rs1800961	20	44413724	C>T	0.05	missense_variant	HNF4A	4e-50	Tier 1: coding
rs7802555	7	87501034	A>C,G	0.05	intergenic_variant	ABCB4 - ABCB1	9e-49	Tier 4: intronic/intergenic
rs429358	19	44908684	T>C	0.05	missense_variant	APOE	4e-47	Tier 1: coding
rs2290846	4	150277928	G>A	0.05	missense_variant	LRBA	5e-46	Tier 1: coding
rs28929474	14	94378610	C>A,G,T	0.05	missense_variant	SERPINA1	4e-43	Tier 1: coding
rs983812	8	58471622	C>G,T	0.05	intergenic_variant	UBXN2B - CYP7A1	1e-42	Tier 4: intronic/intergenic
rs970548	10	45517829	A>C,T	0.05	intron_variant	MARCHF8	2e-35	Tier 4: intronic/intergenic
rs2244608	12	120979185	A>C,G,T	0.05	intron_variant	HNF1A, HNF1A-AS1	3e-32	Tier 4: intronic/intergenic
rs601338	19	48703417	G>A	0.05	stop_gained	FUT2	5e-32	Tier 1: coding
rs212100	19	47873738	T>A,C	0.05	intron_variant	SULT2A1	2e-31	Tier 4: intronic/intergenic
rs4245791	2	43847292	C>A,G,T	0.31	intron_variant	ABCG8	5e-31	Tier 4: intronic/intergenic
rs12633863	3	149493725	G>A	0.05	intron_variant	TM4SF4	4e-30	Tier 4: intronic/intergenic
rs686030	9	15304784	C>A	0.05	intron_variant	TTC39B	4e-30	Tier 4: intronic/intergenic
rs28601761	8	125487789	C>G	0.05	intron_variant	TRIB1AL	2e-29	Tier 4: intronic/intergenic
rs7590687	2	43850086	T>A,C,G	0.05	intron_variant	ABCG8	4e-29	Tier 4: intronic/intergenic
rs4148808	7	87476479	T>A,C,G	0.05	intergenic_variant	ABCB4	9e-28	Tier 4: intronic/intergenic
rs2291428	10	45463408	G>C	0.05	missense_variant	MARCHF8	2e-27	Tier 1: coding
rs2393791	12	120986153	C>T	0.05	intron_variant	HNF1A	8e-27	Tier 4: intronic/intergenic
rs6471717	8	58464798	G>A,C	0.05	intergenic_variant	UBXN2B - CYP7A1	1e-25	Tier 4: intronic/intergenic
rs11556924	7	130023656	C>A,T	0.05	missense_variant	UBE2H-DT, ZC3HC1	1e-25	Tier 1: coding

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 benign/likely benign; association

ClinVar	Variant (HGVS)	Gene	Classification	Review
4975	NM_022437.3(ABCG8):c.55G>C (p.Asp19His)	ABCG5	Benign/Likely benign; association	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 36 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
HNF1A	Orphanet:319303	Chromophobe renal cell carcinoma
HNF1A	Orphanet:324575	Hyperinsulinism due to HNF1A deficiency
HNF1A	Orphanet:404511	Clear cell papillary renal cell carcinoma
HNF1A	Orphanet:552	MODY
HNF1B	Orphanet:1309	Medullary sponge kidney
HNF1B	Orphanet:1331	Familial prostate cancer
HNF1B	Orphanet:2578	Mayer-Rokitansky-Küster-Hauser syndrome type 2
HNF1B	Orphanet:261265	17q12 microdeletion syndrome
HNF1B	Orphanet:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease
HNF1B	Orphanet:93172	Renal dysplasia, unilateral
HNF1B	Orphanet:93173	Renal dysplasia, bilateral
HNF1B	Orphanet:97363	Unilateral multicystic dysplastic kidney
HNF1B	Orphanet:97364	Bilateral multicystic dysplastic kidney
TRAF3	Orphanet:1930	Herpes simplex virus encephalitis
JMJD1C	Orphanet:567	22q11.2 deletion syndrome
JMJD1C	Orphanet:91352	Germinoma of the central nervous system
ABCG5	Orphanet:2882	Sitosterolemia
ABCG5	Orphanet:391665	Homozygous familial hypercholesterolemia
ABCG8	Orphanet:2882	Sitosterolemia
ABCG8	Orphanet:391665	Homozygous familial hypercholesterolemia
MLLT10	Orphanet:99861	Precursor T-cell acute lymphoblastic leukemia
LITAF	Orphanet:101083	Charcot-Marie-Tooth disease type 1C
LRBA	Orphanet:445018	Syndromic autoimmune enteropathy due to LRBA deficiency
CYP7A1	Orphanet:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
ATP8B1	Orphanet:69665	Intrahepatic cholestasis of pregnancy
ATP8B1	Orphanet:79306	Progressive familial intrahepatic cholestasis type 1
ATP8B1	Orphanet:99960	Benign recurrent intrahepatic cholestasis type 1
ABCB4	Orphanet:69663	Low phospholipid-associated cholelithiasis
ABCB4	Orphanet:69665	Intrahepatic cholestasis of pregnancy
ABCB4	Orphanet:79305	Progressive familial intrahepatic cholestasis type 3
HNF4A	Orphanet:263455	Congenital hyperinsulinism due to HNF4A deficiency
HNF4A	Orphanet:544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
HNF4A	Orphanet:552	MODY
SERPINA1	Orphanet:178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
SERPINA1	Orphanet:586	Cystic fibrosis
SERPINA1	Orphanet:60	Alpha-1-antitrypsin deficiency

Cohort genes → proteins

30 cohort genes, 30 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	29
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
SLC10A2	HGNC:10906	ENSG00000125255	Q12908	Ileal sodium/bile acid cotransporter	gwas
SULT2A1	HGNC:11458	ENSG00000105398	Q06520	Sulfotransferase 2A1	gwas
HNF1A	HGNC:11621	ENSG00000135100	P20823	Hepatocyte nuclear factor 1-alpha	gwas
HNF1B	HGNC:11630	ENSG00000275410	P35680	Hepatocyte nuclear factor 1-beta	gwas
TM4SF4	HGNC:11856	ENSG00000169903	P48230	Transmembrane 4 L6 family member 4	gwas
TRAF3	HGNC:12033	ENSG00000131323	Q13114	TNF receptor-associated factor 3	gwas
JMJD1C	HGNC:12313	ENSG00000171988	Q15652	Jumonji domain-containing protein 1C	gwas
UGT1A6	HGNC:12538	ENSG00000167165	P19224	UDP-glucuronosyltransferase 1A6	gwas
MAL2	HGNC:13634	ENSG00000147676	Q969L2	Protein MAL2	gwas
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	gwas
MLLT10	HGNC:16063	ENSG00000078403	P55197	Protein AF-10	gwas
LITAF	HGNC:16841	ENSG00000189067	Q99732	Lipopolysaccharide-induced tumor necrosis factor-alpha factor	gwas
LRBA	HGNC:1742	ENSG00000198589	P50851	Lipopolysaccharide-responsive and beige-like anchor protein	gwas
IRF2BP1	HGNC:21728	ENSG00000170604	Q8IU81	Interferon regulatory factor 2-binding protein 1	gwas
MARCHF8	HGNC:23356	ENSG00000165406	Q5T0T0	E3 ubiquitin-protein ligase MARCHF8	gwas
TMBIM1	HGNC:23410	ENSG00000135926	Q969X1	Protein lifeguard 3	gwas
TTC39B	HGNC:23704	ENSG00000155158	Q5VTQ0	Tetratricopeptide repeat protein 39B	gwas
CYP7A1	HGNC:2651	ENSG00000167910	P22680	Cytochrome P450 7A1	gwas
UBXN2B	HGNC:27035	ENSG00000215114	Q14CS0	UBX domain-containing protein 2B	gwas
FADS2	HGNC:3575	ENSG00000134824	O95864	Acyl-CoA 6-desaturase	gwas
ATP8B1	HGNC:3706	ENSG00000081923	O43520	Phospholipid-transporting ATPase IC	gwas
FUT2	HGNC:4013	ENSG00000176920	Q10981	Galactoside alpha-(1,2)-fucosyltransferase 2	gwas
FUT6	HGNC:4017	ENSG00000156413	P51993	4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6	gwas
ABCB4	HGNC:45	ENSG00000005471	P21439	Phosphatidylcholine translocator ABCB4	gwas
ANPEP	HGNC:500	ENSG00000166825	P15144	Aminopeptidase N	gwas
HNF4A	HGNC:5024	ENSG00000101076	P41235	Hepatocyte nuclear factor 4-alpha	gwas
KDELR3	HGNC:6306	ENSG00000100196	O43731	ER lumen protein-retaining receptor 3	gwas
MAP4K5	HGNC:6867	ENSG00000012983	Q9Y4K4	Mitogen-activated protein kinase kinase kinase kinase 5	gwas
SERPINA1	HGNC:8941	ENSG00000197249	P01009	Alpha-1-antitrypsin	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
SLC10A2	Ileal sodium/bile acid cotransporter	Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine.
SULT2A1	Sulfotransferase 2A1	Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfonation of steroids and bile acids in the liver and adrenal glands.
HNF1A	Hepatocyte nuclear factor 1-alpha	Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver.
HNF1B	Hepatocyte nuclear factor 1-beta	Transcription factor that binds to the inverted palindrome 5’-GTTAATNATTAAC-3'.
TM4SF4	Transmembrane 4 L6 family member 4	Regulates the adhesive and proliferative status of intestinal epithelial cells.
TRAF3	TNF receptor-associated factor 3	Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in…
JMJD1C	Jumonji domain-containing protein 1C	Demethylates lysine in proteins, such as STAT3 or MDC1.
UGT1A6	UDP-glucuronosyltransferase 1A6	UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to facilitate their inactivation and excretion from the body.
MAL2	Protein MAL2	Member of the machinery of polarized transport.
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.
MLLT10	Protein AF-10	Probably involved in transcriptional regulation.
LITAF	Lipopolysaccharide-induced tumor necrosis factor-alpha factor	Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation.
LRBA	Lipopolysaccharide-responsive and beige-like anchor protein	Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules.
IRF2BP1	Interferon regulatory factor 2-binding protein 1	Acts as a transcriptional corepressor in a IRF2-dependent manner; this repression is not mediated by histone deacetylase activities.
MARCHF8	E3 ubiquitin-protein ligase MARCHF8	E3 ubiquitin-protein ligase that plays several important roles in innate immunity and adaptive immunity.
TMBIM1	Protein lifeguard 3	Negatively regulates aortic matrix metalloproteinase-9 (MMP9) production and may play a protective role in vascular remodeling.
TTC39B	Tetratricopeptide repeat protein 39B	Regulates high density lipoprotein (HDL) cholesterol metabolism by promoting the ubiquitination and degradation of the oxysterols receptors LXR (NR1H2 and NR1H3).
CYP7A1	Cytochrome P450 7A1	A cytochrome P450 monooxygenase involved in the metabolism of endogenous cholesterol and its oxygenated derivatives (oxysterols).
UBXN2B	UBX domain-containing protein 2B	Adapter protein required for Golgi and endoplasmic reticulum biogenesis.
FADS2	Acyl-CoA 6-desaturase	Involved in the biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors, acting as a fatty acyl-coenzyme A…
ATP8B1	Phospholipid-transporting ATPase IC	Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane.
FUT2	Galactoside alpha-(1,2)-fucosyltransferase 2	Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose on both O- and N-linked glycans chains of cell surface glycoproteins and glycolipids and the resulting epitope regulates several proc…
FUT6	4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6	Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl glucosamine (GlcNAc) of a distal alpha2,3 sialylated lactosamine unit of a glycoprotein- or a glycolipid-linked sialopolylactosamines chain or…
ABCB4	Phosphatidylcholine translocator ABCB4	Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion.
ANPEP	Aminopeptidase N	Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases.
HNF4A	Hepatocyte nuclear factor 4-alpha	Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes.
KDELR3	ER lumen protein-retaining receptor 3	Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum.
MAP4K5	Mitogen-activated protein kinase kinase kinase kinase 5	May play a role in the response to environmental stress.
SERPINA1	Alpha-1-antitrypsin	Inhibitor of serine proteases.

Protein-family classification

Druggable: 12 · Difficult: 8 · Unknown: 10 · Druggable fraction: 0.4

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	3	7.8×	0.053
Enzyme (other)	6	2.4×	0.139
Nuclear receptor	1	12.9×	0.150
Transcription factor	7	1.9×	0.150
Protease	1	1.2×	0.891
Kinase	1	0.9×	0.891
Scaffold/PPI	1	0.6×	0.952
Other/Unknown	10	0.6×	0.996

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
SLC10A2	Other/Unknown	no		BilAc:Na_symport/Acr3, Bilac:Na_transpt, Na+/solute_symporter_sf
SULT2A1	Other/Unknown	no		Sulfotransferase_dom, P-loop_NTPase
HNF1A	Transcription factor	no		HD, HNF1b_C, HNF1a_C
HNF1B	Transcription factor	no		HD, HNF1b_C, HNF-1_N
TM4SF4	Other/Unknown	no		L6_membrane
TRAF3	Transcription factor	no		Znf_TRAF, Znf_RING, MATH/TRAF_dom
JMJD1C	Enzyme (other)	yes	1.14.11.65	JmjC_dom, LSDs-like, KDM3A/B_DUF7030
UGT1A6	Enzyme (other)	yes	2.4.1.17	UDP_glucos_trans, UDP_glycos_trans_CS, UDP-glycosyltransferase
MAL2	Other/Unknown	no		Marvel, MAL, MARVEL-CKLF_proteins
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
MLLT10	Transcription factor	no		Znf_PHD, Znf_FYVE_PHD, Znf_RING/FYVE/PHD
LITAF	Other/Unknown	no		LITAF, LITAF_fam
LRBA	Scaffold/PPI	no		BEACH_dom, WD40_rpt, NBEA-like_DUF1088
IRF2BP1	Transcription factor	no		IRF-2BP1_2-like_Znf, I2BP1/2_C3HC4-RING_sf, Zf-C3HC4_IRF-2BP1_2
MARCHF8	Transcription factor	no		Znf_RING, Znf_RING-CH, Znf_RING/FYVE/PHD
TMBIM1	Other/Unknown	no		Bax_inhibitor_1-related
TTC39B	Other/Unknown	no		TPR-like_helical_dom_sf, IML2/TPR_39, TPR_rpt
CYP7A1	Enzyme (other)	yes	1.14.14.23	Cyt_P450, Cyt_P450_E_grp-IV, Cyt_P450_CS
UBXN2B	Other/Unknown	no		UBX_dom, SEP_domain, Ubiquitin-like_domsf
FADS2	Enzyme (other)	yes	1.14.19.3	Cyt_B5-like_heme/steroid-bd, FA_desaturase_dom, Fatty_acid_desaturase
ATP8B1	Transcription factor	no	7.6.2.1	P_typ_ATPase, P-type_ATPase_IV, ATPase_P-typ_transduc_dom_A_sf
FUT2	Enzyme (other)	yes	2.4.1.344	Glyco_trans_11
FUT6	Enzyme (other)	yes	2.4.1.152	Glyco_trans_10, Glyco_tran_10_N, GT10-like_C_sf
ABCB4	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC1_TM_dom
ANPEP	Protease	yes	3.4.11.2	Peptidase_M1, Peptidase_M1_dom, ERAP1-like_C_dom
HNF4A	Nuclear receptor	yes		Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt
KDELR3	Other/Unknown	no		ER_ret_rcpt
MAP4K5	Kinase	yes		Prot_kinase_dom, CNH_dom, Kinase-like_dom_sf
SERPINA1	Other/Unknown	no		Serpin_fam, Serpin_CS, Serpin_dom

Expression context

Cohort genes with no expression data: 0.

29 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)	30
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right lobe of liver	8
jejunal mucosa	6
liver	5
duodenum	4
blood	4
right adrenal gland cortex	2
mucosa of transverse colon	2
adult mammalian kidney	2
calcaneal tendon	2
buccal mucosa cell	2
periodontal ligament	2
olfactory bulb	2
lower esophagus mucosa	2
ileal mucosa	1
adrenal tissue	1
kidney	1
metanephros cortex	1
gall bladder	1
islet of Langerhans	1
cartilage tissue	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
SLC10A2	49	tissue_specific	marker	ileal mucosa, jejunal mucosa, duodenum
SULT2A1	106	tissue_specific	marker	adrenal tissue, right adrenal gland cortex, jejunal mucosa
HNF1A	81	tissue_specific	yes	right lobe of liver, mucosa of transverse colon, liver
HNF1B	74	broad	marker	metanephros cortex, adult mammalian kidney, kidney
TM4SF4	138	tissue_specific	marker	gall bladder, jejunal mucosa, islet of Langerhans
TRAF3	258	ubiquitous	marker	cartilage tissue, monocyte, mononuclear cell
JMJD1C	291	ubiquitous	marker	calcaneal tendon, right hemisphere of cerebellum, cerebellar hemisphere
UGT1A6	88	broad	marker	liver, right lobe of liver, adult mammalian kidney
MAL2	231	broad	marker	upper arm skin, esophagus squamous epithelium, oral cavity
ABCG5	61	tissue_specific	marker	jejunal mucosa, right lobe of liver, duodenum
ABCG8	66	tissue_specific	marker	right lobe of liver, liver, jejunal mucosa
MLLT10	275	ubiquitous	marker	buccal mucosa cell, adult organism, colonic epithelium
LITAF	294	ubiquitous	marker	blood, palpebral conjunctiva, periodontal ligament
LRBA	274	ubiquitous	marker	upper leg skin, bronchial epithelial cell, epithelium of bronchus
IRF2BP1	216	ubiquitous	marker	type B pancreatic cell, olfactory bulb, diaphragm
MARCHF8	135	ubiquitous	marker	thymus, bone marrow cell, blood
TMBIM1	292	ubiquitous	marker	lower esophagus mucosa, descending thoracic aorta, thoracic aorta
TTC39B	238	ubiquitous	marker	epithelial cell of pancreas, buccal mucosa cell, gingival epithelium
CYP7A1	33	tissue_specific	marker	right lobe of liver, liver, primordial germ cell in gonad
UBXN2B	292	ubiquitous	marker	cortical plate, blood, ganglionic eminence
FADS2	229	ubiquitous	marker	right adrenal gland cortex, right adrenal gland, left adrenal gland cortex
ATP8B1	289	ubiquitous	marker	cardia of stomach, nipple, renal medulla
FUT2	198	broad	marker	olfactory segment of nasal mucosa, nasal cavity epithelium, minor salivary gland
FUT6	205	tissue_specific	marker	lower esophagus mucosa, pharyngeal mucosa, olfactory bulb
ABCB4	188	broad	marker	right lobe of liver, secondary oocyte, oocyte
ANPEP	235	ubiquitous	marker	jejunal mucosa, duodenum, body of pancreas
HNF4A	110	tissue_specific	marker	right lobe of liver, mucosa of transverse colon, duodenum
KDELR3	249	ubiquitous	marker	tibia, parotid gland, periodontal ligament
MAP4K5	296	ubiquitous	marker	corpus callosum, sural nerve, calcaneal tendon
SERPINA1	133	ubiquitous	marker	right lobe of liver, liver, blood

Protein interactions among cohort

Intra-cohort edges: 17.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HNF4A	4,731
SERPINA1	3,617
TRAF3	3,493
ANPEP	3,320
CYP7A1	2,612
HNF1A	2,491
ABCB4	2,333
ABCG5	1,996
ABCG8	1,920
LITAF	1,814

Intra-cohort edges

A	B	Sources
ABCB4	ATP8B1	string_interaction
ABCB4	CYP7A1	string_interaction
ABCB4	SLC10A2	string_interaction
ABCG5	ABCG8	biogrid_interaction, intact, string_interaction
ABCG5	ATP8B1	string_interaction
ABCG5	CYP7A1	string_interaction
ABCG8	CYP7A1	string_interaction
ABCG8	MAL2	biogrid_interaction, intact
ABCG8	TTC39B	string_interaction
ATP8B1	SLC10A2	string_interaction
CYP7A1	SLC10A2	string_interaction
FUT2	FUT6	string_interaction
HNF1A	HNF1B	biogrid_interaction, intact, string_interaction
HNF1A	HNF4A	string_interaction
HNF1B	HNF4A	string_interaction
HNF1B	MLLT10	biogrid_interaction, intact
SULT2A1	UGT1A6	string_interaction

Structural data

PDB: 17 · AlphaFold-only: 13 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
SERPINA1	P01009	46
ANPEP	P15144	15
ATP8B1	O43520	13
TRAF3	Q13114	10
ABCG5	Q9H222	8
ABCG8	Q9H221	8
HNF4A	P41235	8
SULT2A1	Q06520	7
HNF1A	P20823	6
MLLT10	P55197	6
ABCB4	P21439	4
HNF1B	P35680	3
JMJD1C	Q15652	3
CYP7A1	P22680	3
LRBA	P50851	1
MARCHF8	Q5T0T0	1
UBXN2B	Q14CS0	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FADS2	O95864	95.39
UGT1A6	P19224	91.50
KDELR3	O43731	91.42
FUT2	Q10981	90.65
FUT6	P51993	89.81
MAL2	Q969L2	85.42
SLC10A2	Q12908	82.88
TTC39B	Q5VTQ0	81.88
TM4SF4	P48230	77.43
TMBIM1	Q969X1	77.32
MAP4K5	Q9Y4K4	74.15
LITAF	Q99732	70.60
IRF2BP1	Q8IU81	66.17

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 80. Enrichment computed across 30 evidence-associated genes (20 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 20 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	571.0×	1e-04	ABCG5, ABCG8
Defective ABCG5 causes sitosterolemia	2	571.0×	1e-04	ABCG5, ABCG8
ABC transporter disorders	3	65.9×	3e-04	ABCG5, ABCG8, ABCB4
Nephron development	2	87.8×	0.004	HNF1B, HNF4A
Lewis blood group biosynthesis	2	67.2×	0.005	FUT2, FUT6
Disorders of transmembrane transporters	3	20.9×	0.005	ABCG5, ABCG8, ABCB4
ABC transporters in lipid homeostasis	2	60.1×	0.006	ABCG5, ABCG8
ABC-family protein mediated transport	3	18.2×	0.006	ABCG5, ABCG8, ABCB4
Regulation of gene expression in beta cells	2	51.9×	0.006	HNF1A, HNF4A
Paracetamol ADME	2	42.3×	0.008	SULT2A1, UGT1A6
NR1H2 and NR1H3-mediated signaling	2	39.4×	0.008	ABCG5, ABCG8
PPARA activates gene expression	3	14.2×	0.008	SULT2A1, CYP7A1, ABCB4
Defective ABCB4 causes PFIC3, ICP3 and GBD1	1	571.0×	0.011	ABCB4
NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux	2	30.9×	0.011	ABCG5, ABCG8
ABO blood group biosynthesis	1	285.5×	0.019	FUT2
TRAF3 deficiency - HSE	1	190.3×	0.026	TRAF3
Transport of small molecules	4	5.0×	0.034	ABCG5, ABCG8, ATP8B1, ABCB4
Regulation of lipid metabolism by PPARalpha	2	14.1×	0.039	SULT2A1, ABCB4
Regulation of gene expression in early pancreatic precursor cells	1	71.4×	0.059	HNF1B
Signaling by Nuclear Receptors	2	10.2×	0.065	ABCG5, ABCG8
Linoleic acid (LA) metabolism	1	57.1×	0.066	FADS2
Regulation of TBK1, IKKε-mediated activation of IRF3, IRF7 upon TLR3 ligation	1	47.6×	0.075	TRAF3
TICAM1-dependent activation of IRF3/IRF7	1	40.8×	0.075	TRAF3
Glucuronidation	1	38.1×	0.075	UGT1A6
Synthesis of bile acids and bile salts via 27-hydroxycholesterol	1	38.1×	0.075	CYP7A1
TRAF3-dependent IRF activation pathway	1	38.1×	0.075	TRAF3
Regulation of TBK1, IKKε (IKBKE)-mediated activation of IRF3, IRF7	1	38.1×	0.075	TRAF3
alpha-linolenic acid (ALA) metabolism	1	35.7×	0.075	FADS2
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells	1	35.7×	0.075	HNF1B
TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	1	33.6×	0.075	TRAF3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 30 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	561.7×	2e-04	ABCG5, ABCG8
negative regulation of intestinal cholesterol absorption	2	561.7×	2e-04	ABCG5, ABCG8
cholesterol homeostasis	5	26.0×	2e-04	ABCG5, ABCG8, TTC39B, CYP7A1, HNF4A
triglyceride homeostasis	3	48.1×	0.001	ABCG5, ABCG8, HNF4A
sterol transport	2	187.2×	0.002	ABCG5, ABCG8
L-fucose catabolic process	2	112.3×	0.004	FUT2, FUT6
intestinal cholesterol absorption	2	93.6×	0.005	ABCG5, ABCG8
lipid metabolic process	4	12.2×	0.007	TTC39B, FADS2, ABCB4, HNF4A
bile acid metabolic process	2	66.1×	0.008	SULT2A1, ATP8B1
arachidonate metabolite production involved in inflammatory response	1	561.7×	0.011	FADS2
regulation of pronephros size	1	561.7×	0.011	HNF1B
pronephric nephron tubule development	1	561.7×	0.011	HNF1B
regulation of growth hormone receptor signaling pathway	1	561.7×	0.011	HNF4A
ureteric bud elongation	1	561.7×	0.011	HNF1B
obsolete negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	1	561.7×	0.011	HNF1B
obsolete regulation of ornithine metabolic process	1	561.7×	0.011	HNF4A
mesenchymal cell apoptotic process involved in metanephros development	1	561.7×	0.011	HNF1B
positive regulation of cellular response to oxidative stress	1	561.7×	0.011	FADS2
regulation of plasma membrane organization	1	561.7×	0.011	ATP8B1
pancreas development	2	44.9×	0.011	HNF1A, HNF1B
oligosaccharide biosynthetic process	2	43.2×	0.011	FUT2, FUT6
bile acid and bile salt transport	2	43.2×	0.011	SLC10A2, ATP8B1
phospholipid translocation	2	41.6×	0.011	ATP8B1, ABCB4
glycosphingolipid biosynthetic process	2	40.1×	0.011	FUT2, FUT6
response to muscle activity	2	38.7×	0.011	ABCG5, ABCG8
cholesterol efflux	2	35.1×	0.011	ABCG5, ABCG8
blood coagulation	3	17.4×	0.011	JMJD1C, HNF4A, SERPINA1
transmembrane transport	3	16.9×	0.011	ABCG5, ABCG8, ABCB4
xenobiotic metabolic process	3	14.9×	0.011	SULT2A1, UGT1A6, HNF4A
insulin secretion	2	28.8×	0.013	HNF1A, HNF1B

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Icomidocholic Acid.

Drug target analysis

Approved (phase 4): 3 · Phase ≥3: 4 · Phased (≥1): 5 · Undrugged: 25

Druggability breadth: 16 of 30 evidence-associated genes (53%) 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
SLC10A2	URSODIOL
UGT1A6	DICLOFENAC
MAP4K5	VEMURAFENIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MAP4K5	67	4
SLC10A2	9	4
ANPEP	4	3
UGT1A6	2	4
ABCB4	1	2
SULT2A1	0	0
HNF1A	0	0
HNF1B	0	0
TM4SF4	0	0
TRAF3	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
URSODIOL	4	SLC10A2
CYCLOSPORINE	4	SLC10A2
MARALIXIBAT CHLORIDE	4	SLC10A2
CHENODIOL	4	SLC10A2
TAURURSODIOL	4	SLC10A2
MARALIXIBAT	4	SLC10A2
DEOXYCHOLIC ACID	4	SLC10A2
DICLOFENAC	4	UGT1A6
TROGLITAZONE	4	UGT1A6
VEMURAFENIB	4	MAP4K5
LENVATINIB	4	MAP4K5
AXITINIB	4	MAP4K5
SORAFENIB	4	MAP4K5
NERATINIB	4	MAP4K5
PALBOCICLIB	4	MAP4K5
ENTRECTINIB	4	MAP4K5
VANDETANIB	4	MAP4K5
BOSUTINIB	4	MAP4K5
GILTERITINIB	4	MAP4K5
PAZOPANIB	4	MAP4K5
NINTEDANIB	4	MAP4K5
SUNITINIB	4	MAP4K5
DASATINIB	4	MAP4K5
QUIZARTINIB	4	MAP4K5
CRIZOTINIB	4	MAP4K5
MIDOSTAURIN	4	MAP4K5
GEFITINIB	4	MAP4K5
LINERIXIBAT	3	SLC10A2
CURCUMIN	3	ANPEP
LINSITINIB	3	MAP4K5

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 8.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
MAP4K5	262	Binding:261, Functional:1
ANPEP	109	Binding:106, ADMET:3
HNF4A	106	Binding:97, Functional:9
UGT1A6	76	ADMET:71, Binding:5
SLC10A2	47	Binding:28, Functional:19
FADS2	11	Binding:11
SULT2A1	8	Binding:5, ADMET:3
FUT6	6	Binding:6
CYP7A1	4	ADMET:3, Binding:1
ABCB4	4	ADMET:3, Binding:1
JMJD1C	2	Binding:2
FUT2	2	Binding:2
HNF1A	1	Binding:1
MAL2	1	Binding:1
LITAF	1	Binding:1
LRBA	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
JMJD1C	1.14.11.65	[histone H3]-dimethyl-L-lysine9 demethylase
UGT1A6	2.4.1.17	glucuronosyltransferase
CYP7A1	1.14.14.23	cholesterol 7alpha-monooxygenase
FADS2	1.14.19.3	acyl-CoA 6-desaturase
ATP8B1	7.6.2.1	P-type phospholipid transporter
FUT2	2.4.1.344, 2.4.1.69	type 2 galactoside alpha-(1,2)-fucosyltransferase, type 1 galactoside alpha-(1,2)-fucosyltransferase
FUT6	2.4.1.152, 2.4.1.65	4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase, 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase
ANPEP	3.4.11.2	membrane alanyl aminopeptidase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
ANPEP	109
HNF4A	106
MAP4K5	262

Pharmacogenomics

Cohort genes with a PharmGKB record: 30; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

29 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)
CYCLOSPORINE	4	SLC10A2
MARALIXIBAT CHLORIDE	4	SLC10A2
CHENODIOL	4	SLC10A2
TAURURSODIOL	4	SLC10A2
MARALIXIBAT	4	SLC10A2
DEOXYCHOLIC ACID	4	SLC10A2
DICLOFENAC	4	UGT1A6
TROGLITAZONE	4	UGT1A6
VEMURAFENIB	4	MAP4K5
LENVATINIB	4	MAP4K5
AXITINIB	4	MAP4K5
SORAFENIB	4	MAP4K5
NERATINIB	4	MAP4K5
PALBOCICLIB	4	MAP4K5
ENTRECTINIB	4	MAP4K5
VANDETANIB	4	MAP4K5
BOSUTINIB	4	MAP4K5
GILTERITINIB	4	MAP4K5
PAZOPANIB	4	MAP4K5
NINTEDANIB	4	MAP4K5
SUNITINIB	4	MAP4K5
DASATINIB	4	MAP4K5
QUIZARTINIB	4	MAP4K5
CRIZOTINIB	4	MAP4K5
MIDOSTAURIN	4	MAP4K5
GEFITINIB	4	MAP4K5
LINERIXIBAT	3	SLC10A2
CURCUMIN	3	ANPEP
LINSITINIB	3	MAP4K5

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	3	SLC10A2, UGT1A6, MAP4K5
B	Phased (≥1) drug, not yet approved	2	ABCB4, ANPEP
C	Druggable family + PDB, no drug	5	JMJD1C, ABCG5, ABCG8, CYP7A1, HNF4A
D	Druggable family + AlphaFold only, no drug	3	FADS2, FUT2, FUT6
E	Difficult family or no structure, no drug	17	SULT2A1, HNF1A, HNF1B, TM4SF4, TRAF3, MAL2, MLLT10, LITAF, LRBA, IRF2BP1 (+7 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ATP8B1	0	ABCB4
HNF4A	106	—
SULT2A1	8	—
HNF1A	1	—
HNF1B	0	—
TM4SF4	0	—
TRAF3	0	—
JMJD1C	2	—
MAL2	1	—
ABCG5	0	—
ABCG8	0	—
MLLT10	0	—
LITAF	1	—
LRBA	1	—
IRF2BP1	0	—
MARCHF8	0	—
TMBIM1	0	—
TTC39B	0	—
CYP7A1	4	—
UBXN2B	0	—
FADS2	11	—
FUT2	2	—
FUT6	6	—
KDELR3	0	—
SERPINA1	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