Primary biliary cholangitis

Summary

Primary biliary cholangitis (MONDO:0005388) is a disease (an umbrella term covering 5 Mondo subtypes) with 75 cohort genes (280 GWAS associations across 15 studies) and 165 clinical trials. The dominant Reactome pathway is Interleukin-35 Signalling (5 cohort genes). Top therapeutic interventions include ursodiol, fenofibrate, and obeticholic acid.

At a glance

• Prevalence: 1-5 / 10 000 (Worldwide) [Orphanet-validated]
• Umbrella term: 5 Mondo subtypes
• Cohort genes: 75
• GWAS associations: 280
• ClinVar variants: 1
• Phenotypes (HPO): 41
• Clinical trials: 165

Clinical features

Epidemiology

Prevalence records

28 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 100 000	3	Worldwide	Validated
Point prevalence	1-5 / 10 000	21.05	Worldwide	Validated
Annual incidence	1-9 / 100 000	2.57	Europe	Validated
Point prevalence	1-5 / 10 000	25	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.9	France	Validated
Annual incidence	1-9 / 100 000	1.7	Spain	Validated
Annual incidence	1-9 / 100 000	2.5	Iceland	Validated
Annual incidence	1-9 / 100 000	1.1	Netherlands	Validated
Annual incidence	1-9 / 100 000	1.7	Denmark	Validated
Annual incidence	1-9 / 100 000	1.7	Finland	Validated
Annual incidence	1-9 / 100 000	4.5	United States	Validated
Annual incidence	1-9 / 100 000	3	Canada	Validated
Annual incidence	1-9 / 100 000	1	Brunei Darussalam	Validated
Annual incidence	1-9 / 100 000	2.1	Greece	Validated
Annual incidence	1-9 / 100 000	2.3	United Kingdom	Validated
Point prevalence	1-5 / 10 000	19.5	Spain	Validated
Point prevalence	1-5 / 10 000	38.3	Iceland	Validated
Point prevalence	1-5 / 10 000	13.2	Netherlands	Validated
Point prevalence	1-5 / 10 000	12	Denmark	Validated
Point prevalence	1-5 / 10 000	18	Finland	Validated

Signs & symptoms

Clinical features (HPO)

41 HPO clinical features (Orphanet curated; top 41 by frequency):

HPO ID	Term	Frequency
HP:0000953	Hyperpigmentation of the skin	Very frequent (80-99%)
HP:0001394	Cirrhosis	Very frequent (80-99%)
HP:0002613	Biliary cirrhosis	Very frequent (80-99%)
HP:0002908	Conjugated hyperbilirubinemia	Very frequent (80-99%)
HP:0011971	Dermatographic urticaria	Very frequent (80-99%)
HP:0030167	Antimitochondrial antibody positivity	Very frequent (80-99%)
HP:0000820	Abnormality of the thyroid gland	Frequent (30-79%)
HP:0000952	Jaundice	Frequent (30-79%)
HP:0000989	Pruritus	Frequent (30-79%)
HP:0001114	Xanthelasma	Frequent (30-79%)
HP:0001278	Orthostatic hypotension	Frequent (30-79%)
HP:0001395	Hepatic fibrosis	Frequent (30-79%)
HP:0001399	Hepatic failure	Frequent (30-79%)
HP:0001402	Hepatocellular carcinoma	Frequent (30-79%)
HP:0001409	Portal hypertension	Frequent (30-79%)
HP:0002240	Hepatomegaly	Frequent (30-79%)
HP:0002841	Recurrent fungal infections	Frequent (30-79%)
HP:0002960	Autoimmunity	Frequent (30-79%)
HP:0003119	Abnormal circulating lipid concentration	Frequent (30-79%)
HP:0003124	Hypercholesterolemia	Frequent (30-79%)
HP:0003155	Elevated circulating alkaline phosphatase concentration	Frequent (30-79%)
HP:0003493	Antinuclear antibody positivity	Frequent (30-79%)
HP:0003496	Increased circulating IgM level	Frequent (30-79%)
HP:0011040	Abnormality of the intrahepatic bile duct	Frequent (30-79%)
HP:0012203	Onychomycosis	Frequent (30-79%)
HP:0030948	Elevated gamma-glutamyltransferase level	Frequent (30-79%)
HP:0000939	Osteoporosis	Occasional (5-29%)
HP:0001262	Excessive daytime somnolence	Occasional (5-29%)
HP:0001541	Ascites	Occasional (5-29%)
HP:0001744	Splenomegaly	Occasional (5-29%)
HP:0002040	Esophageal varix	Occasional (5-29%)
HP:0002360	Sleep abnormality	Occasional (5-29%)
HP:0002480	Hepatic encephalopathy	Occasional (5-29%)
HP:0002570	Steatorrhea	Occasional (5-29%)
HP:0002608	Celiac disease	Occasional (5-29%)
HP:0003073	Hypoalbuminemia	Occasional (5-29%)
HP:0003261	Increased circulating IgA level	Occasional (5-29%)
HP:0003270	Abdominal distention	Occasional (5-29%)
HP:0012115	Hepatitis	Occasional (5-29%)
HP:0012378	Fatigue	Occasional (5-29%)
HP:0004386	Gastrointestinal inflammation	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	primary biliary cholangitis
Mondo ID	MONDO:0005388
EFO	EFO:1001486
MeSH	D008105
OMIM	109720
Orphanet	186
DOID	DOID:12236
ICD-10-CM	K74.3
ICD-11	649193479
NCIT	C27167
SNOMED CT	31712002
UMLS	C0008312
MedGen	3035
GARD	0007459
MedDRA	10004661, 10019137
NORD	1604
Is cancer (heuristic)	no

Also known as: chronic non-suppurative destructive cholangitis · chronic nonsuppurative destructive cholangitis · familial primary biliary cirrhosis · Hanot syndrome · PBC · primary Bilary cirrhosis (PBC) · primary biliary cirrhosis

Data availability: 1 ClinVar variant · 280 GWAS associations (15 studies) · 30 cell lines.

Disease family

An umbrella term covering 5 Mondo subtypes.

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

Related subtypes (14): bile duct disorder, biliary tract neoplasm, gallstones, 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 (5): primary biliary cholangitis 1, primary biliary cholangitis 2, primary biliary cholangitis 3, primary biliary cholangitis 4, primary biliary cholangitis 5

Genetics & variants

GWAS landscape

280 GWAS associations across 15 studies. Top hits map to 19 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7774434	3e-116	HLA-DQB1 - MTCO3P1	C	0.46
rs6679356	5e-65	IL12RB2	C	0.44
rs589446	2e-55	IL12A-AS1	T	0.35
HLA*DQA1:0401	6e-45		?	3.07
rs71152606	8e-44	IKZF3	CTTCTA	0.27
rs12531711	9e-41	TNPO3	G	0.42
rs9268641	4e-39	TSBP1-AS1 - HLA-DRA	C	0.46
rs72678531	2e-38	IL12RB2	G	1.61
rs59643720	3e-38	EXOC3L4	C	0.32
rs7119044	7e-38	Y_RNA - CXCR5	G	0.36
DQB1*0402	8e-36		?	3.93
rs2366643	3e-35	LINC01100; IL12A-AS1; IL12A-AS1; IL12A-AS1; IL12A-AS1	A	0.62
rs201150316	5e-35	Y_RNA - CXCR5	AT	0.37
rs7775055	1e-33	HLA-DQB1 - MTCO3P1	C	3.71
rs33938760	2e-33		CTT	0.26
DRB1*0801	3e-33		?	3.99
rs6533022	2e-32	MANBA	C	0.23
rs2293370	2e-31	TIMMDC1	A	0.29
rs11889341	3e-31	STAT4	T	0.25
rs4979462	4e-31	TNFSF15	T	1.62
rs9268644	8e-31	HLA-DRA	?	1.96
rs3745516	3e-30	SPIB	A	0.27
rs4979467	1e-29	DELEC1	A	1.53
rs3129887	2e-29	HLA-DRA	?	3.13
rs9275171	5e-29	HLA-DQB1 - MTCO3P1	G	0.45
rs12919083	4e-26	CLEC16A	C	0.22
rs1322057	5e-26	TNFSF15 - DELEC1	G	0.44
rs56211063	9e-26	TNFSF15 - DELEC1	C	0.44
rs7574865	9e-25	STAT4; STAT4	T	0.72
rs11117432	3e-24	LINC02132 - LINC01082	A	0.27

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90428827	Yu X	2024	8,021	33,155	Shared genetic architecture between autoimmune disorders and B-cell acute lymphoblastic leukemia: insights from large-scale genome-wide cross-trait analysis.
GCST90061440	Cordell HJ	2021	8,021	16,489	An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs.
GCST90061442	Cordell HJ	2021	8,021	16,489	An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs.
GCST005581	Liu JZ	2012	2,861	8,514	Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
GCST003129	Cordell HJ	2015	2,764	10,475	International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
GCST90061441	Cordell HJ	2021	2,495	4,283	An international genome-wide meta-analysis of primary biliary cholangitis: novel risk loci and candidate drugs.
GCST009956	Juran BD	2012	2,216	5,594	Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
GCST90828094	Hitomi Y	2024	2,181	2,699	A genome-wide association study identified PTPN2 as a population-specific susceptibility gene locus for primary biliary cholangitis.
GCST007036	Hitomi Y	2019	1,855	1,719	POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
GCST004145	Kawashima M	2017	1,381	1,505	Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	46

MAF distribution

Bucket	Variants
common (>=0.05)	45
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	4

Functional consequences

Consequence	Count
intron_variant	26
intergenic_variant	9
unknown	5
intron_variant; intron_variant	3
non_coding_transcript_exon_variant	2
missense_variant	2
intron_variant; intergenic_variant; intron_variant; intron_variant	1
regulatory_region_variant; intergenic_variant; intron_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7774434	6	32689801	T>C	0.05	non_coding_transcript_exon_variant	HLA-DQB1 - MTCO3P1	3e-116	Tier 4: intronic/intergenic
rs6679356	1	67354511	C>A,T	0.05	intron_variant	IL12RB2	5e-65	Tier 4: intronic/intergenic
rs589446	3	160015740	G>T	0.05	intron_variant	IL12A-AS1	2e-55	Tier 4: intronic/intergenic
HLA*DQA1:0401				0.22			6e-45	Tier 4: intronic/intergenic
rs71152606	17	39818962	C>CTTCTA	0.05	intron_variant	IKZF3	8e-44	Tier 4: intronic/intergenic
rs12531711	7	128977412	A>C,G	0.05	intron_variant	TNPO3	9e-41	Tier 4: intronic/intergenic
rs9268641	6	32439110	C>T	0.05	intron_variant	TSBP1-AS1 - HLA-DRA	4e-39	Tier 4: intronic/intergenic
rs72678531	1	67332762	T>C	0.17	intron_variant	IL12RB2	2e-38	Tier 4: intronic/intergenic
rs59643720	14	103098470	A>C,G	0.05	intron_variant	EXOC3L4	3e-38	Tier 4: intronic/intergenic
rs7119044	11	118867589	G>A,C,T	0.05	intron_variant	Y_RNA - CXCR5	7e-38	Tier 4: intronic/intergenic
DQB1*0402							8e-36	Tier 4: intronic/intergenic
rs2366643	3;3;3;3	160018698	T>C,G	0.3	intron_variant; intergenic_variant; intron_variant; intron_variant	LINC01100; IL12A-AS1; IL12A-AS1; IL12A-AS1; IL12A-AS1	3e-35	Tier 4: intronic/intergenic
rs201150316	11	118869396	AT>A	0.05	intron_variant	Y_RNA - CXCR5	5e-35	Tier 4: intronic/intergenic
rs7775055	6	32690139	T>C	0.05	non_coding_transcript_exon_variant	HLA-DQB1 - MTCO3P1	1e-33	Tier 4: intronic/intergenic
rs33938760							2e-33	Tier 4: intronic/intergenic
DRB1*0801							3e-33	Tier 4: intronic/intergenic
rs6533022	4	102637794	T>A,C	0.05	intron_variant	MANBA	2e-32	Tier 4: intronic/intergenic
rs2293370	3	119501087	G>A,C,T	0.05	intron_variant	TIMMDC1	2e-31	Tier 4: intronic/intergenic
rs11889341	2	191079016	C>T	0.05	intron_variant	STAT4	3e-31	Tier 4: intronic/intergenic
rs4979462	9	114804733	C>G,T	0.05	intron_variant	TNFSF15	4e-31	Tier 4: intronic/intergenic
rs9268644	6	32440267	A>C	0.177	intron_variant	HLA-DRA	8e-31	Tier 4: intronic/intergenic
rs3745516	19	50423485	A>G,T	0.05	intron_variant	SPIB	3e-30	Tier 4: intronic/intergenic
rs4979467	9	114867763	C>T	0.322	intergenic_variant	DELEC1	1e-29	Tier 4: intronic/intergenic
rs3129887	6	32442914	G>A	0.05	intron_variant	HLA-DRA	2e-29	Tier 4: intronic/intergenic
rs9275171	6	32686195	A>G,T	0.05	intergenic_variant	HLA-DQB1 - MTCO3P1	5e-29	Tier 4: intronic/intergenic
rs12919083	16	11095073	A>C,G,T	0.05	intron_variant	CLEC16A	4e-26	Tier 4: intronic/intergenic
rs1322057	9	114816094	A>G,T	0.05	intron_variant	TNFSF15 - DELEC1	5e-26	Tier 4: intronic/intergenic
rs56211063	9	114823617	G>C	0.05	intergenic_variant	TNFSF15 - DELEC1	9e-26	Tier 4: intronic/intergenic
rs7574865	2;2	191099907	T>A,G	0.28	intron_variant; intron_variant	STAT4; STAT4	9e-25	Tier 4: intronic/intergenic
rs11117432	16	85985665	G>A	0.05	intergenic_variant	LINC02132 - LINC01082	3e-24	Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
367235	NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	TJP2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 61 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 5

Dual-evidence genes (GWAS + Mendelian — highest-confidence targets)

Gene	HGNC	Evidence routes
SPIB	SPIB	GWAS, Orphanet
TNFSF15	TNFSF15	GWAS, Orphanet
TYK2	TYK2	GWAS, Orphanet
TNPO3	TNPO3	GWAS, Orphanet
SPEF2	SPEF2	GWAS, Orphanet

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ATXN2	Orphanet:803	Amyotrophic lateral sclerosis
ATXN2	Orphanet:98756	Spinocerebellar ataxia type 2
SCNN1A	Orphanet:130	Brugada syndrome
SCNN1A	Orphanet:171876	Generalized pseudohypoaldosteronism type 1
SCNN1A	Orphanet:526	Liddle syndrome
SCNN1A	Orphanet:60033	Idiopathic bronchiectasis
SPIB	Orphanet:186	Primary biliary cholangitis
STAT1	Orphanet:319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
STAT1	Orphanet:391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
STAT1	Orphanet:391487	STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
STAT4	Orphanet:117	Behçet disease
STAT4	Orphanet:536	Systemic lupus erythematosus
STAT4	Orphanet:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
STAT4	Orphanet:85410	Oligoarticular juvenile idiopathic arthritis
STAT4	Orphanet:93552	Pediatric systemic lupus erythematosus
TJP2	Orphanet:238475	Familial hypercholanemia
TJP2	Orphanet:480483	Progressive familial intrahepatic cholestasis type 4
TJP2	Orphanet:90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
TNFAIP3	Orphanet:536	Systemic lupus erythematosus
TNFAIP3	Orphanet:674762	Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
TNFRSF1A	Orphanet:32960	Tumor necrosis factor receptor 1 associated periodic syndrome
TNFRSF1A	Orphanet:329967	Intermittent hydrarthrosis
TNFSF15	Orphanet:186	Primary biliary cholangitis
TYK2	Orphanet:300865	Primary cutaneous anaplastic large cell lymphoma
TYK2	Orphanet:331226	Susceptibility to infection due to TYK2 deficiency
TYK2	Orphanet:98842	Lymphomatoid papulosis
IKZF3	Orphanet:67038	B-cell chronic lymphocytic leukemia
IKZF3	Orphanet:699590	Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
IKZF3	Orphanet:699593	Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
TIMMDC1	Orphanet:2609	Isolated complex I deficiency
CCR6	Orphanet:220393	Diffuse cutaneous systemic sclerosis
CCR6	Orphanet:220402	Limited cutaneous systemic sclerosis
CD28	Orphanet:2584	Classic mycosis fungoides
CD28	Orphanet:3162	Sézary syndrome
TNPO3	Orphanet:186	Primary biliary cholangitis
TNPO3	Orphanet:55595	TNP03-related limb-girdle muscular dystrophy D2
SOCS1	Orphanet:619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
POGLUT1	Orphanet:480682	POGLUT1-related limb-girdle muscular dystrophy R21
POGLUT1	Orphanet:79145	Dowling-Degos disease
CISD2	Orphanet:3463	Wolfram syndrome
CTLA4	Orphanet:2584	Classic mycosis fungoides
CTLA4	Orphanet:3162	Sézary syndrome
CTLA4	Orphanet:391490	Adult-onset myasthenia gravis
CTLA4	Orphanet:436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
CTLA4	Orphanet:536	Systemic lupus erythematosus
CTLA4	Orphanet:900	Granulomatosis with polyangiitis
SPEF2	Orphanet:244	Primary ciliary dyskinesia
SPEF2	Orphanet:276234	Non-syndromic male infertility due to sperm motility disorder
DDX6	Orphanet:528084	Non-specific syndromic intellectual disability
PPIP5K2	Orphanet:90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Cohort genes → proteins

75 cohort genes, 70 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	74
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
RPL3	HGNC:10332	ENSG00000100316	P39023	Large ribosomal subunit protein uL3	gwas
RPS6KA4	HGNC:10433	ENSG00000162302	O75676	Ribosomal protein S6 kinase alpha-4	gwas
ATXN2	HGNC:10555	ENSG00000204842	Q99700	Ataxin-2	gwas
SCNN1A	HGNC:10599	ENSG00000111319	P37088	Epithelial sodium channel subunit alpha	gwas
CXCR5	HGNC:1060	ENSG00000160683	P32302	C-X-C chemokine receptor type 5	gwas
CCL20	HGNC:10619	ENSG00000115009	P78556	C-C motif chemokine 20	gwas
BRAP	HGNC:1099	ENSG00000089234	Q7Z569	BRCA1-associated protein	gwas
SPIB	HGNC:11242	ENSG00000269404	Q01892	Transcription factor Spi-B	gwas
STAT1	HGNC:11362	ENSG00000115415	P42224	Signal transducer and activator of transcription 1-alpha/beta	gwas
STAT4	HGNC:11365	ENSG00000138378	Q14765	Signal transducer and activator of transcription 4	gwas
SYNGR1	HGNC:11498	ENSG00000100321	O43759	Synaptogyrin-1	gwas
TJP2	HGNC:11828	ENSG00000119139	Q9UDY2	Tight junction protein 2	clinvar
TNFAIP2	HGNC:11895	ENSG00000185215	Q03169	Tumor necrosis factor alpha-induced protein 2	gwas
TNFAIP3	HGNC:11896	ENSG00000118503	P21580	Tumor necrosis factor alpha-induced protein 3	gwas
TNFRSF1A	HGNC:11916	ENSG00000067182	P19438	Tumor necrosis factor receptor superfamily member 1A	gwas
TNFSF15	HGNC:11931	ENSG00000181634	O95150	Tumor necrosis factor ligand superfamily member 15	gwas
TNFSF8	HGNC:11938	ENSG00000106952	P32971	Tumor necrosis factor ligand superfamily member 8	gwas
TYK2	HGNC:12440	ENSG00000105397	P29597	Non-receptor tyrosine-protein kinase TYK2	gwas
IKZF3	HGNC:13178	ENSG00000161405	Q9UKT9	Zinc finger protein Aiolos	gwas
TIMMDC1	HGNC:1321	ENSG00000113845	Q9NPL8	Complex I assembly factor TIMMDC1, mitochondrial	gwas
DEXI	HGNC:13267	ENSG00000182108	O95424	Dexamethasone-induced protein	gwas
SMIM29	HGNC:1340	ENSG00000186577	Q86T20	Small integral membrane protein 29	gwas
DLEU1	HGNC:13747	ENSG00000176124	O43261	Leukemia-associated protein 1	gwas
SCHIP1	HGNC:15678	ENSG00000151967	P0DPB3	Schwannomin-interacting protein 1	gwas
ORMDL3	HGNC:16038	ENSG00000172057	Q8N138	ORM1-like protein 3	gwas
CCR6	HGNC:1607	ENSG00000112486	P51684	C-C chemokine receptor type 6	gwas
ELMO1	HGNC:16286	ENSG00000155849	Q92556	Engulfment and cell motility protein 1	gwas
CD28	HGNC:1653	ENSG00000178562	P10747	T-cell-specific surface glycoprotein CD28	gwas
CD58	HGNC:1688	ENSG00000116815	P19256	Lymphocyte function-associated antigen 3	gwas
CD80	HGNC:1700	ENSG00000121594	P33681	T-lymphocyte activation antigen CD80	gwas
TNPO3	HGNC:17103	ENSG00000064419	Q9Y5L0	Transportin-3	gwas
SERBP1	HGNC:17860	ENSG00000142864	Q8NC51	SERPINE1 mRNA-binding protein 1	gwas
OLIG3	HGNC:18003	ENSG00000177468	Q7RTU3	Oligodendrocyte transcription factor 3	gwas
SOCS1	HGNC:19383	ENSG00000185338	O15524	Suppressor of cytokine signaling 1	gwas
EXOC3L4	HGNC:20120	ENSG00000205436	Q17RC7	Exocyst complex component 3-like protein 4	gwas
ZPBP2	HGNC:20678	ENSG00000186075	Q6X784	Zona pellucida-binding protein 2	gwas
RNF145	HGNC:20853	ENSG00000145860	Q96MT1	RING finger protein 145	gwas
SLC22A23	HGNC:21106	ENSG00000137266	A1A5C7	Solute carrier family 22 member 23	gwas
POGLUT1	HGNC:22954	ENSG00000163389	Q8NBL1	Protein O-glucosyltransferase 1	gwas
CRHR1	HGNC:2357	ENSG00000120088	P34998	Corticotropin-releasing factor receptor 1	gwas
GSDMB	HGNC:23690	ENSG00000073605	Q8TAX9	Gasdermin-B	gwas
CISD2	HGNC:24212	ENSG00000145354	Q8N5K1	CDGSH iron-sulfur domain-containing protein 2	gwas
CSNK2A2	HGNC:2459	ENSG00000070770	P19784	Casein kinase II subunit alpha'	gwas
TRAFD1	HGNC:24808	ENSG00000135148	O14545	TRAF-type zinc finger domain-containing protein 1	gwas
CFAP263	HGNC:25002	ENSG00000103021	Q9H0I3	Cilia- and flagella-associated protein 263	gwas
CTLA4	HGNC:2505	ENSG00000163599	P16410	Cytotoxic T-lymphocyte protein 4	gwas
MACIR	HGNC:25052	ENSG00000181751	Q96GV9	Macrophage immunometabolism regulator	gwas
PLEKHG6	HGNC:25562	ENSG00000008323	Q3KR16	Pleckstrin homology domain-containing family G member 6	gwas
TMEM39A	HGNC:25600	ENSG00000176142	Q9NV64	Transmembrane protein 39A	gwas
GIN1	HGNC:25959	ENSG00000145723	Q9NXP7	Gypsy retrotransposon integrase-like protein 1	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RPL3	Large ribosomal subunit protein uL3	Component of the large ribosomal subunit.
RPS6KA4	Ribosomal protein S6 kinase alpha-4	Serine/threonine-protein kinase that is required for the mitogen or stress-induced phosphorylation of the transcription factors CREB1 and ATF1 and for the regulation of the transcription factor RELA, and that contributes to gene activation…
ATXN2	Ataxin-2	Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.
SCNN1A	Epithelial sodium channel subunit alpha	This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis.
CXCR5	C-X-C chemokine receptor type 5	Cytokine receptor that binds to B-lymphocyte chemoattractant (BLC).
CCL20	C-C motif chemokine 20	Acts as a ligand for C-C chemokine receptor CCR6.
BRAP	BRCA1-associated protein	Negatively regulates MAP kinase activation by limiting the formation of Raf/MEK complexes probably by inactivation of the KSR1 scaffold protein.
SPIB	Transcription factor Spi-B	Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5’-GAGGAA-3’) that can act as a lymphoid-specific enhancer.
STAT1	Signal transducer and activator of transcription 1-alpha/beta	Signal transducer and transcription activator that mediates cellular responses to interferons (IFNs), cytokine KITLG/SCF and other cytokines and other growth factors.
STAT4	Signal transducer and activator of transcription 4	Transcriptional regulator mainly expressed in hematopoietic cells that plays a critical role in cellular growth, differentiation and immune response.
SYNGR1	Synaptogyrin-1	May play a role in regulated exocytosis.
TJP2	Tight junction protein 2	Plays a role in tight junctions and adherens junctions.
TNFAIP2	Tumor necrosis factor alpha-induced protein 2	May play a role as a mediator of inflammation and angiogenesis.
TNFAIP3	Tumor necrosis factor alpha-induced protein 3	Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities.
TNFRSF1A	Tumor necrosis factor receptor superfamily member 1A	Receptor for TNFSF2/TNF and homotrimeric TNFSF1/lymphotoxin-alpha.
TNFSF15	Tumor necrosis factor ligand superfamily member 15	Receptor for TNFRSF25 and TNFRSF6B.
TNFSF8	Tumor necrosis factor ligand superfamily member 8	Cytokine that binds to TNFRSF8/CD30.
TYK2	Non-receptor tyrosine-protein kinase TYK2	Tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling, which regulates cell growth, development, cell migration, innate and adaptive immunity.
IKZF3	Zinc finger protein Aiolos	Transcription factor that plays an important role in the regulation of lymphocyte differentiation.
TIMMDC1	Complex I assembly factor TIMMDC1, mitochondrial	Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I).
DLEU1	Leukemia-associated protein 1	May act as a tumor suppressor.
ORMDL3	ORM1-like protein 3	Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels.
CCR6	C-C chemokine receptor type 6	Receptor for the C-C type chemokine CCL20.
ELMO1	Engulfment and cell motility protein 1	Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility.
CD28	T-cell-specific surface glycoprotein CD28	Receptor that plays a role in T-cell activation, proliferation, survival and the maintenance of immune homeostasis.
CD58	Lymphocyte function-associated antigen 3	Ligand of the T-lymphocyte CD2 glycoprotein.
CD80	T-lymphocyte activation antigen CD80	Costimulatory molecule that belongs to the immunoglobulin superfamily that plays an important role in T-lymphocyte activation.
TNPO3	Transportin-3	Importin, which transports target proteins into the nucleus.
SERBP1	SERPINE1 mRNA-binding protein 1	Ribosome-binding protein that promotes ribosome hibernation, a process during which ribosomes are stabilized in an inactive state and preserved from proteasomal degradation.
OLIG3	Oligodendrocyte transcription factor 3	May determine the distinct specification program of class A neurons in the dorsal part of the spinal cord and suppress specification of class B neurons.
SOCS1	Suppressor of cytokine signaling 1	Essential negative regulator of type I and type II interferon (IFN) signaling, as well as that of other cytokines, including IL2, IL4, IL6 and leukemia inhibitory factor (LIF).
ZPBP2	Zona pellucida-binding protein 2	Is implicated in sperm-oocyte interaction during fertilization.
RNF145	RING finger protein 145	E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate.
POGLUT1	Protein O-glucosyltransferase 1	Dual specificity glycosyltransferase that catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to a serine residue found in the consensus sequence of C-X-S-X-P-C.
CRHR1	Corticotropin-releasing factor receptor 1	G-protein coupled receptor for CRH (corticotropin-releasing factor) and UCN (urocortin).
GSDMB	Gasdermin-B	Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death.
CISD2	CDGSH iron-sulfur domain-containing protein 2	Regulator of autophagy that contributes to antagonize BECN1-mediated cellular autophagy at the endoplasmic reticulum.
CSNK2A2	Casein kinase II subunit alpha'	Catalytic subunit of a constitutively active serine/threonine-protein kinase complex that phosphorylates a large number of substrates containing acidic residues C-terminal to the phosphorylated serine or threonine.
TRAFD1	TRAF-type zinc finger domain-containing protein 1	Negative feedback regulator that controls excessive innate immune responses.
CFAP263	Cilia- and flagella-associated protein 263	Component of centriolar satellites contributing to primary cilium formation.
CTLA4	Cytotoxic T-lymphocyte protein 4	Inhibitory receptor acting as a major negative regulator of T-cell responses.
MACIR	Macrophage immunometabolism regulator	Regulates the macrophage function, by enhancing the resolution of inflammation and wound repair functions mediated by M2 macrophages.
PLEKHG6	Pleckstrin homology domain-containing family G member 6	Guanine nucleotide exchange factor activating the small GTPase RHOA, which, in turn, induces myosin filament formation.
TMEM39A	Transmembrane protein 39A	Regulates autophagy by controlling the spatial distribution and levels of the intracellular phosphatidylinositol 4-phosphate (PtdIns(4)P) pools.
SPEF2	Sperm flagellar protein 2	Required for correct axoneme development in spermatozoa.
UGT3A1	UDP-glucuronosyltransferase 3A1	UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion.
CCDC88B	Coiled-coil domain-containing protein 88B	Acts as a positive regulator of T-cell maturation and inflammatory function.
DDX6	Probable ATP-dependent RNA helicase DDX6	Essential for the formation of P-bodies, cytosolic membrane-less ribonucleoprotein granules involved in RNA metabolism through the coordinated storage of mRNAs encoding regulatory functions.
UBLCP1	Ubiquitin-like domain-containing CTD phosphatase 1	Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity.
DENND1B	DENN domain-containing protein 1B	Guanine nucleotide exchange factor (GEF) for RAB35 that acts as a regulator of T-cell receptor (TCR) internalization in TH2 cells.

Protein-family classification

Druggable: 23 · Difficult: 13 · Unknown: 39 · Druggable fraction: 0.31

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
Antibody/Immunoglobulin	9	3.5×	0.008
Kinase	5	1.9×	0.536
Scaffold/PPI	5	1.1×	0.784
Transporter	1	1.0×	0.784
GPCR	3	1.0×	0.784
Other/Unknown	39	0.9×	0.784
Transcription factor	8	0.9×	0.784
Enzyme (other)	5	0.8×	0.784

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
RPL3	Other/Unknown	no		Ribosomal_uL3, Transl_B-barrel_sf, Ribosomal_uL3_CS
RPS6KA4	Kinase	yes		Prot_kinase_dom, AGC-kinase_C, Ser/Thr_kinase_AS
ATXN2	Other/Unknown	no		LsmAD_domain, PAM2_motif, LSM_dom_sf
SCNN1A	Other/Unknown	no		ENaC, ENaC_chordates, ENaC_CS
CXCR5	GPCR	yes		GPCR_Rhodpsn, Chemokine_CXCR5, GPCR_Rhodpsn_7TM
CCL20	Other/Unknown	no		Chemokine_CC_CS, Chemokine_IL8-like_dom, Chemokine_CC_DCCL
BRAP	Transcription factor	no		Znf_UBP, Znf_RING, BRAP2/ETP1_RRM
SPIB	Other/Unknown	no		Ets_dom, WH-like_DNA-bd_sf, WH_DNA-bd_sf
STAT1	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
STAT4	Transcription factor	no		SH2, STAT, p53-like_TF_DNA-bd_sf
SYNGR1	Other/Unknown	no		Marvel, Synaptogyrin
TJP2	Scaffold/PPI	no		SH3_domain, PDZ, ZO
TNFAIP2	Other/Unknown	no		EXOC3/Sec6, EXOC3/Sec6_C
TNFAIP3	Transcription factor	no		Znf_A20, OTU_dom, OTU_Deubiquitinase
TNFRSF1A	Other/Unknown	no		Death_dom, TNFR/NGFR_Cys_rich_reg, DEATH-like_dom_sf
TNFSF15	Other/Unknown	no		TNF_dom, TNF, Tumour_necrosis_fac-like_dom
TNFSF8	Other/Unknown	no		TNF_dom, Tumour_necrosis_fac-like_dom, TNF_CS
TYK2	Kinase	yes	2.7.10.2	FERM_domain, Prot_kinase_dom, SH2
IKZF3	Transcription factor	no		Znf_C2H2_type, Znf_C2H2_sf, Ikaros_C2H2-ZF
TIMMDC1	Other/Unknown	no		TIMMDC1
DEXI	Other/Unknown	no		Dexamethasone-induced
SMIM29	Other/Unknown	no		SMIM29
DLEU1	Other/Unknown	no
SCHIP1	Other/Unknown	no		SCHIP_1_C, SCHIP_1
ORMDL3	Other/Unknown	no		ORMDL
CCR6	GPCR	yes		GPCR_Rhodpsn, Chemokine_rcpt, Chemokine_CCR6
ELMO1	Scaffold/PPI	no		PH_domain, ELMO_dom, ARM-like
CD28	Antibody/Immunoglobulin	yes		CD28, Ig_V-set, Ig-like_fold
CD58	Antibody/Immunoglobulin	yes		Ig-like_fold, CD2/SLAM_rcpt, Ig-like_dom_sf
CD80	Antibody/Immunoglobulin	yes		Ig_sub, Ig-like_dom, Ig_V-set
TNPO3	Other/Unknown	no		ARM-like, Exportin-1/Importin-b-like, ARM-type_fold
SERBP1	Other/Unknown	no		HABP4_PAIRBP1-bd, IHABP4_N, HABP4/SERBP1-like
OLIG3	Transcription factor	no		bHLH_dom, Olig3_bHLH, HLH_DNA-bd_sf
SOCS1	Scaffold/PPI	no		SH2, SOCS_box, SOCS1_SH2
EXOC3L4	Other/Unknown	no		EXOC3/Sec6, EXOC3/Sec6_C
ZPBP2	Antibody/Immunoglobulin	yes		Ig-like_dom, Sp38-bd, Ig-like_fold
RNF145	Transcription factor	no		Znf_RING, Znf_RING-CH, Znf_RING/FYVE/PHD
SLC22A23	Transporter	yes		MFS_sugar_transport-like, Sugar_transporter_CS, MFS_dom
POGLUT1	Enzyme (other)	yes	2.4.1.376	CAP10, O-Glucosyltr/Glycosyltrsf_90
CRHR1	GPCR	yes		GPCR_2_secretin-like, GPCR_2_extracellular_dom, GPCR_2_CRF_rcpt
GSDMB	Other/Unknown	no		Gasdermin, Gasdermin_pore, Gasdermin_PUB
CISD2	Other/Unknown	no		FeS-contain_CDGSH-typ, FeS-contain_mitoNEET_N, MitoNEET_CISD
CSNK2A2	Kinase	yes	2.7.11.1	Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf
TRAFD1	Transcription factor	no		Znf_RING/FYVE/PHD, TRAFD1-XIAF1_Znf, Innate_Immune_Apopt_Reg
CFAP263	Other/Unknown	no		CCDC113/CCDC96_CC, CC_CF
CTLA4	Antibody/Immunoglobulin	yes		Ig_sub, CTLA4, Ig_V-set
MACIR	Other/Unknown	no		UNC119-bd
PLEKHG6	Scaffold/PPI	no		DH_dom, PH_domain, PH-like_dom_sf
TMEM39A	Other/Unknown	no		Uncharacterised_TMEM39
GIN1	Other/Unknown	no		Integrase_cat-core, RNaseH-like_sf, RNaseH_sf

Expression context

Cohort genes with no expression data: 0.

64 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)	1
broad (>20)	74
unknown	0

Top tissues across cohort

Tissue	Cohort genes
granulocyte	9
monocyte	9
lymph node	8
vermiform appendix	8
right hemisphere of cerebellum	6
cerebellar hemisphere	5
mucosa of transverse colon	5
pancreatic ductal cell	5
right uterine tube	4
left testis	4
right testis	4
mononuclear cell	4
right lobe of liver	4
blood	4
cerebellar cortex	3
spleen	3
epithelium of nasopharynx	3
gall bladder	3
sperm	3
leukocyte	3

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RPL3	307	ubiquitous	marker	left ovary, right ovary, type B pancreatic cell
RPS6KA4	215	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
ATXN2	286	ubiquitous	marker	buccal mucosa cell, colonic epithelium, olfactory bulb
SCNN1A	283	broad	marker	nasal cavity epithelium, metanephros cortex, right uterine tube
CXCR5	172	tissue_specific	marker	granulocyte, spleen, lymph node
CCL20	202	broad	marker	epithelium of nasopharynx, cartilage tissue, gall bladder
BRAP	286	ubiquitous	marker	left testis, right testis, testis
SPIB	161	broad	marker	lymph node, mucosa of transverse colon, vermiform appendix
STAT1	294	ubiquitous	marker	epithelium of nasopharynx, vermiform appendix, mononuclear cell
STAT4	201	broad	marker	granulocyte, sperm, middle temporal gyrus
SYNGR1	298	ubiquitous	marker	Brodmann (1909) area 10, right hemisphere of cerebellum, cerebellar hemisphere
TJP2	134	ubiquitous	marker	corpus callosum, descending thoracic aorta, thoracic aorta
TNFAIP2	250	ubiquitous	marker	granulocyte, monocyte, leukocyte
TNFAIP3	274	ubiquitous	marker	vena cava, mucosa of paranasal sinus, vermiform appendix
TNFRSF1A	292	ubiquitous	marker	tendon of biceps brachii, gall bladder, left uterine tube
TNFSF15	149	broad	marker	cartilage tissue, jejunal mucosa, duodenum
TNFSF8	179	broad	marker	monocyte, leukocyte, mononuclear cell
TYK2	288	ubiquitous	marker	granulocyte, right hemisphere of cerebellum, adenohypophysis
IKZF3	155	broad	marker	granulocyte, lymph node, epithelium of nasopharynx
TIMMDC1	259	ubiquitous	marker	left ventricle myocardium, cardiac muscle of right atrium, myocardium
DEXI	282	ubiquitous	yes	apex of heart, hindlimb stylopod muscle, left adrenal gland cortex
SMIM29	225	ubiquitous	marker	anterior cingulate cortex, amygdala, hypothalamus
DLEU1	162	ubiquitous	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans
SCHIP1	133	ubiquitous	marker	ventricular zone, prefrontal cortex, Brodmann (1909) area 9
ORMDL3	256	ubiquitous	marker	right lobe of liver, bone marrow cell, granulocyte
CCR6	103	broad	marker	lymph node, vermiform appendix, spleen
ELMO1	248	ubiquitous	marker	prefrontal cortex, C1 segment of cervical spinal cord, corpus callosum
CD28	154	broad	marker	lymph node, vermiform appendix, blood
CD58	278	ubiquitous	marker	jejunal mucosa, monocyte, right lung
CD80	143	broad	marker	male germ line stem cell (sensu Vertebrata) in testis, lower lobe of lung, pancreatic ductal cell

Protein interactions among cohort

Intra-cohort edges: 71.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RPL3	6,978
STAT1	6,459
DDX6	5,922
GAK	5,838
CSNK2A2	5,255
SERBP1	5,155
ALDH2	4,554
TNFRSF1A	4,523
TYK2	3,932
CTLA4	3,863

Intra-cohort edges

A	B	Sources
ATXN2	DDX6	intact, string_interaction
ATXN2	SH2B3	string_interaction
BRAP	TNFAIP3	intact
CAPSL	CFAP263	string_interaction
CAPSL	CLEC16A	string_interaction
CAPSL	EXOC3L4	string_interaction
CAPSL	SPEF2	string_interaction
CAPSL	TMEM39A	string_interaction
CCL20	CCR6	biogrid_interaction, string_interaction
CD28	CD58	string_interaction
CD28	CD80	biogrid_interaction, intact, string_interaction
CD28	CTLA4	intact, string_interaction
CD58	CD80	string_interaction
CD58	CLEC16A	string_interaction
CD58	CTLA4	string_interaction
CD58	RPS6KA4	string_interaction
CD80	CTLA4	biogrid_interaction, intact, string_interaction
CD80	ZPBP2	intact
CFAP263	EXOC3L4	string_interaction
CFAP263	TMEM39A	string_interaction
CLEC16A	DENND1B	string_interaction
CLEC16A	DEXI	string_interaction
CLEC16A	MACIR	string_interaction
CLEC16A	SH2B3	string_interaction
CLEC16A	TMEM39A	string_interaction
DENND1B	GSDMB	string_interaction
DENND1B	ORMDL3	string_interaction
DENND1B	RPS6KA4	string_interaction
DENND1B	TNFAIP2	string_interaction
DENND1B	ZPBP2	string_interaction
DEXI	SOCS1	string_interaction
DGKQ	GAK	string_interaction
DGKQ	TMEM175	string_interaction
EXOC3L4	RPS6KA4	string_interaction
EXOC3L4	TMEM39A	string_interaction
FGFRL1	TNFSF8	biogrid_interaction, intact
GAK	TMEM175	string_interaction
GIN1	MACIR	string_interaction
GSDMB	IKZF3	string_interaction
GSDMB	ORMDL3	string_interaction
GSDMB	ZPBP2	string_interaction
HLA-DPB1	SCNN1A	intact
HLA-DQA1	HLA-DQB1	biogrid_interaction, intact
HLA-DQA1	SCNN1A	intact
IKZF3	ORMDL3	string_interaction
IKZF3	SPIB	string_interaction
IKZF3	ZPBP2	string_interaction
MACIR	PPIP5K2	string_interaction
MACIR	RPS6KA4	string_interaction
MACIR	TMEM39A	string_interaction

Structural data

PDB: 39 · AlphaFold-only: 31 · No structure: 5

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RPL3	P39023	193
CSNK2A2	P19784	56
TYK2	P29597	52
SERBP1	Q8NC51	29
ALDH2	P05091	29
HLA-DQA1	P01909	28
CTLA4	P16410	22
PPIP5K2	O43314	21
GLRA3	O75311	19
ELMO1	Q92556	18
TMEM175	Q9BSA9	18
TNFAIP3	P21580	17
TNFRSF1A	P19438	13
ORMDL3	Q8N138	13
CRHR1	P34998	11
GSDMB	Q8TAX9	11
STAT1	P42224	10
CD28	P10747	10
HLA-DPB1	P04440	10
HLA-DQB1	P01920	10
DDX6	P26196	9
TNFSF15	O95150	7
GAK	O14976	7
CCL20	P78556	6
CD80	P33681	6
TNPO3	Q9Y5L0	6
POGLUT1	Q8NBL1	6
CISD2	Q8N5K1	4
SCNN1A	P37088	3
CD58	P19256	3

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CAPSL	Q8WWF8	91.88
UGT3A1	Q6NUS8	91.48
STAT4	Q14765	86.87
ZPBP2	Q6X784	86.81
TNFAIP2	Q03169	86.05
SOCS1	O15524	84.20
DGKQ	P52824	82.56
CXCR5	P32302	80.85
TNFSF8	P32971	80.07
EXOC3L4	Q17RC7	78.98
RNF145	Q96MT1	78.73
BRAP	Q7Z569	76.92
TMEM39A	Q9NV64	74.80
SLC22A23	A1A5C7	73.39
CLEC16A	Q2KHT3	72.17
TIMMDC1	Q9NPL8	72.08
FGFRL1	Q8N441	72.04
RPS6KA4	O75676	72.00
SMIM29	Q86T20	71.70
SPEF2	Q9C093	71.30
GIN1	Q9NXP7	70.95
CCDC88B	A6NC98	70.19
DEXI	O95424	69.88
PLEKHG6	Q3KR16	68.36
SPIB	Q01892	68.20
OLIG3	Q7RTU3	63.67
SH2B3	Q9UQQ2	63.45
SCHIP1	P0DPB3	61.13
MACIR	Q96GV9	58.00
DLEU1	O43261	55.08

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 327. Enrichment computed across 109 evidence-associated genes (73 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 73 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interleukin-35 Signalling	5	65.2×	1e-06	STAT1, STAT4, TYK2, IL12A, IL12RB2
Interferon gamma signaling	9	15.5×	1e-06	STAT1, SOCS1, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1, IRF8 (+1 more)
Interleukin-10 signaling	7	22.4×	2e-06	CCL20, TNFRSF1A, TYK2, CD80, IL12A, IL12B, IL1R1
Interleukin-21 signaling	4	62.6×	3e-05	STAT1, STAT4, IL21, IL21R
Interleukin-12 signaling	5	27.9×	5e-05	STAT4, TYK2, IL12A, IL12B, IL12RB2
Translocation of ZAP-70 to Immunological synapse	4	34.8×	2e-04	HLA-DPB1, HLA-DQA1, HLA-DRA, HLA-DRB1
Phosphorylation of CD3 and TCR zeta chains	4	29.8×	4e-04	HLA-DPB1, HLA-DQA1, HLA-DRA, HLA-DRB1
Co-inhibition by PD-1	4	28.4×	4e-04	HLA-DPB1, HLA-DQA1, HLA-DRA, HLA-DRB1
Interleukin-23 signaling	3	52.1×	7e-04	STAT4, TYK2, IL12B
Generation of second messenger molecules	4	19.0×	0.002	HLA-DPB1, HLA-DQA1, HLA-DRA, HLA-DRB1
Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)	3	36.1×	0.002	STAT1, STAT4, IL12RB2
Interleukin-4 and Interleukin-13 signaling	6	8.5×	0.002	STAT1, TYK2, SOCS1, IL12A, IL12B, IL4R
Interferon alpha/beta signaling	5	10.4×	0.003	STAT1, TYK2, SOCS1, IRF8, IRF5
Signaling by CSF3 (G-CSF)	3	23.5×	0.006	STAT1, TYK2, SOCS1
Downstream TCR signaling	5	8.8×	0.006	HLA-DPB1, HLA-DQA1, HLA-DRA, HLA-DRB1, NFKB1
Cytokine Signaling in Immune system	8	4.5×	0.008	CCL20, STAT1, STAT4, CD80, SOCS1, SH2B3, IRF8, IRF5
Regulation of IFNA/IFNB signaling	3	18.1×	0.011	STAT1, TYK2, SOCS1
Inactivation of CSF3 (G-CSF) signaling	3	18.1×	0.011	STAT1, TYK2, SOCS1
Interleukin-20 family signaling	3	17.4×	0.011	STAT1, STAT4, TYK2
TNFs bind their physiological receptors	3	16.2×	0.013	TNFRSF1A, TNFSF15, TNFSF8
Co-stimulation by CD28	3	15.6×	0.014	CD28, CD80, CTLA4
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	5	6.6×	0.014	CD28, CD80, ICOS, IL1RL1, PDGFB
Interleukin-18 signaling	2	39.1×	0.016	IL18R1, IL18RAP
Immune System	14	2.5×	0.016	CCL20, STAT1, STAT4, SYNGR1, CCR6, CD28, CD58, CD80 (+6 more)
Interleukin-27 signaling	2	28.4×	0.028	STAT1, TYK2
Interleukin-6 signaling	2	26.1×	0.031	STAT1, TYK2
Constitutive Signaling by Aberrant PI3K in Cancer	4	7.0×	0.031	CD28, CD80, ICOS, PDGFB
CD28 dependent Vav1 pathway	2	24.1×	0.034	CD28, CD80
Signaling by SCF-KIT	3	10.2×	0.034	STAT1, SOCS1, SH2B3
Interferon Signaling	4	6.6×	0.034	STAT1, SOCS1, IRF8, IRF5

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 98 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
immune response	25	12.0×	2e-17	CXCR5, CCL20, TNFSF15, TNFSF8, TYK2, CCR6, CD58, CD80 (+17 more)
positive regulation of type II interferon production	9	20.6×	2e-07	TYK2, HLA-DPB1, IRF8, IL12A, IL12B, IL12RB2, IL18R1, IL1R1 (+1 more)
interleukin-12-mediated signaling pathway	5	95.5×	2e-07	STAT4, TYK2, IL12A, IL12B, IL12RB2
peptide antigen assembly with MHC class II protein complex	5	53.7×	5e-06	HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1
positive regulation of T cell activation	6	27.1×	1e-05	CCDC88B, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1
positive regulation of T cell proliferation	7	18.5×	1e-05	TYK2, CD28, CD80, CCDC88B, HLA-DPB1, IL12B, IL21
antigen processing and presentation of exogenous peptide antigen via MHC class II	5	27.7×	8e-05	HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1
cytokine-mediated signaling pathway	8	10.7×	8e-05	STAT4, TNFRSF1A, TYK2, SOCS1, IL12RB2, IL16, IL21R, IRF5
cell surface receptor signaling pathway via JAK-STAT	6	17.8×	9e-05	STAT1, STAT4, TNFRSF1A, TYK2, SOCS1, IL12B
positive regulation of immune response	5	24.6×	1e-04	HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, HLA-DRB1
interleukin-18-mediated signaling pathway	3	86.0×	3e-04	IL18R1, IL18RAP, PDGFB
cellular response to virus	6	12.3×	6e-04	TYK2, IL12A, IL21, IRF5, NFKB1, POU2AF1
inflammatory response	12	4.6×	6e-04	RPS6KA4, CCL20, TNFAIP3, TNFRSF1A, MACIR, IL18R1, IL18RAP, IL1R1 (+4 more)
positive regulation of memory T cell differentiation	3	57.3×	8e-04	HLA-DRA, HLA-DRB1, IL12B
germinal center B cell differentiation	3	51.6×	1e-03	IRF8, IL21, POU2AF1
defense response to protozoan	4	24.6×	1e-03	CCDC88B, IRF8, IL12B, IL4R
adaptive immune response	8	6.9×	1e-03	CTLA4, HLA-DPB1, HLA-DQA1, HLA-DQB1, HLA-DRA, IL18R1, IL18RAP, PRKCB
humoral immune response	5	14.3×	0.001	CCR6, CD28, HLA-DQB1, HLA-DRB1, POU2AF1
T-helper 1 cell differentiation	3	46.9×	0.001	STAT4, IL18R1, IL4R
antigen processing and presentation of endogenous peptide antigen via MHC class II	2	172.0×	0.001	HLA-DRA, HLA-DRB1
positive regulation of T cell mediated cytotoxicity	4	20.8×	0.001	HLA-DRA, HLA-DRB1, IL12A, IL12B
T cell receptor signaling pathway	6	9.3×	0.002	CD28, CTLA4, DENND1B, HLA-DPB1, HLA-DQB1, HLA-DRB1
macrophage differentiation	4	19.1×	0.002	SPIB, SOCS1, HLA-DRB1, IL1RL1
myeloid dendritic cell antigen processing and presentation	2	114.6×	0.003	HLA-DRA, HLA-DRB1
thymocyte migration	2	114.6×	0.003	CCL20, CCR6
positive regulation of interleukin-12 production	4	16.0×	0.003	IRF8, IL12B, IL16, IRF5
cell surface receptor signaling pathway	8	5.2×	0.004	TNFSF15, CD28, CD80, CRHR1, IL12RB2, IL1R1, IL1RL2, IL7R
smooth muscle adaptation	2	86.0×	0.004	IL1R1, PDGFB
positive regulation of mononuclear cell proliferation	2	86.0×	0.004	IL12A, IL12B
regulation of T-helper cell differentiation	2	86.0×	0.004	HLA-DRA, HLA-DRB1

Therapeutics

Drugs indicated for this disease

2 approved, 9 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Obeticholic Acid	Approved (phase 4)
Ursodiol	Approved (phase 4)
Bezafibrate	Phase 3 (in late-stage trials)
Budesonide	Phase 3 (in late-stage trials)
Colchicine	Phase 3 (in late-stage trials)
Elafibranor	Phase 3 (in late-stage trials)
Fenofibrate	Phase 3 (in late-stage trials)
Methotrexate	Phase 3 (in late-stage trials)
Saroglitazar	Phase 3 (in late-stage trials)
Seladelpar	Phase 3 (in late-stage trials)
Taurolithocholic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ademetionine, Baricitinib, Cilofexor, Emtricitabine, Etrasimod, Moexipril, Odevixibat, Pentoxifylline, Raltegravir, Tenofovir Disoproxil, Ustekinumab, Zidovudine.

Drug target analysis

Approved (phase 4): 12 · Phase ≥3: 12 · Phased (≥1): 15 · Undrugged: 60

Druggability breadth: 51 of 109 evidence-associated genes (47%) 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
RPL3	GENTAMICIN SULFATE
RPS6KA4	FEDRATINIB
SCNN1A	AMILORIDE
STAT1	FILGOTINIB
TYK2	FEDRATINIB
IKZF3	POMALIDOMIDE
CCR6	TEGASEROD MALEATE
CRHR1	CRINECERFONT
CISD2	ROSIGLITAZONE
CSNK2A2	MITOXANTRONE
ALDH2	DISULFIRAM
GAK	MOMELOTINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
GAK	77	4
TYK2	72	4
CSNK2A2	70	4
RPS6KA4	34	4
CRHR1	6	4
STAT1	5	4
IKZF3	5	4
CCR6	3	4
ALDH2	3	4
SCNN1A	2	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
GENTAMICIN SULFATE	4	RPL3
FEDRATINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
RUXOLITINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
NINTEDANIB	4	CSNK2A2, RPS6KA4, TYK2
SUNITINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
ERLOTINIB	4	GAK, RPS6KA4, TYK2
MIDOSTAURIN	4	GAK, RPS6KA4, TYK2
GEFITINIB	4	GAK, RPS6KA4
AMILORIDE	4	SCNN1A
FILGOTINIB	4	STAT1, TYK2
DEUCRAVACITINIB	4	STAT1, TYK2
TOFACITINIB	4	TYK2
UPADACITINIB	4	GAK, TYK2
BARICITINIB	4	GAK, TYK2
ABROCITINIB	4	TYK2
MOMELOTINIB	4	CSNK2A2, GAK, TYK2
AXITINIB	4	CSNK2A2, GAK, TYK2
RUXOLITINIB PHOSPHATE	4	TYK2
INFIGRATINIB PHOSPHATE	4	TYK2
INFIGRATINIB	4	TYK2
PACRITINIB	4	CSNK2A2, GAK, TYK2
TOFACITINIB CITRATE	4	TYK2
BOSUTINIB	4	GAK, TYK2
PEFICITINIB	4	TYK2
CRAVACITINIB	4	TYK2
PAZOPANIB	4	GAK, TYK2
DASATINIB	4	GAK, TYK2
CRIZOTINIB	4	TYK2
IMATINIB	4	CSNK2A2, GAK, TYK2
POMALIDOMIDE	4	IKZF3

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 8.

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

Symbol	Assays	Type breakdown
TYK2	1,083	Binding:1043, Functional:39, ADMET:1
CSNK2A2	793	Binding:648, Functional:145
RPS6KA4	389	Binding:387, Functional:1, ADMET:1
GAK	263	Binding:260, Functional:3
CRHR1	193	Binding:139, Functional:54
STAT1	147	Binding:137, Functional:8, Unclassified:2
IKZF3	101	Binding:100, Functional:1
RPL3	90	Binding:90
ALDH2	71	Binding:66, Functional:5
CCR6	60	Functional:33, Binding:27
CXCR5	33	Binding:21, Functional:12
GLRA3	32	Binding:28, Functional:4
TNFRSF1A	24	Binding:23, Functional:1
STAT4	20	Binding:20
SCNN1A	6	Binding:4, ADMET:1, Functional:1
ELMO1	6	Binding:6
CISD2	6	Binding:6
ATXN2	5	Binding:3, Functional:2
CD58	5	Binding:3, Functional:2
UBLCP1	5	Binding:5
DDX6	4	Binding:4
PPIP5K2	4	Binding:4
BRAP	2	Binding:2
HLA-DQA1	2	Binding:2
TNFAIP3	1	Binding:1
ORMDL3	1	Binding:1
CD28	1	Functional:1
TNPO3	1	Binding:1
SERBP1	1	Binding:1
TRAFD1	1	Binding:1
CTLA4	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TYK2	2.7.10.2	non-specific protein-tyrosine kinase
POGLUT1	2.4.1.376, 2.4.2.63	EGF-domain serine glucosyltransferase, EGF-domain serine xylosyltransferase
CSNK2A2	2.7.11.1	non-specific serine/threonine protein kinase
UGT3A1	2.4.1.17	glucuronosyltransferase
DDX6	3.6.4.13	RNA helicase
DGKQ	2.7.1.107	diacylglycerol kinase (ATP)
PPIP5K2	2.7.4.21, 2.7.4.24	inositol-hexakisphosphate 5-kinase, diphosphoinositol-pentakisphosphate 1-kinase
ALDH2	1.2.1.3	aldehyde dehydrogenase (NAD+)

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
RPS6KA4	389
STAT1	147
TYK2	1,083
IKZF3	101
CRHR1	193
CSNK2A2	793
GAK	263

Pharmacogenomics

Cohort genes with a PharmGKB record: 70; 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)
GENTAMICIN SULFATE	4	RPL3
FEDRATINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
RUXOLITINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
NINTEDANIB	4	CSNK2A2, RPS6KA4, TYK2
SUNITINIB	4	CSNK2A2, GAK, RPS6KA4, TYK2
ERLOTINIB	4	GAK, RPS6KA4, TYK2
MIDOSTAURIN	4	GAK, RPS6KA4, TYK2
GEFITINIB	4	GAK, RPS6KA4
AMILORIDE	4	SCNN1A
FILGOTINIB	4	STAT1, TYK2
DEUCRAVACITINIB	4	STAT1, TYK2
TOFACITINIB	4	TYK2
UPADACITINIB	4	GAK, TYK2
ABROCITINIB	4	TYK2
MOMELOTINIB	4	CSNK2A2, GAK, TYK2
AXITINIB	4	CSNK2A2, GAK, TYK2
RUXOLITINIB PHOSPHATE	4	TYK2
INFIGRATINIB PHOSPHATE	4	TYK2
INFIGRATINIB	4	TYK2
PACRITINIB	4	CSNK2A2, GAK, TYK2
TOFACITINIB CITRATE	4	TYK2
BOSUTINIB	4	GAK, TYK2
PEFICITINIB	4	TYK2
CRAVACITINIB	4	TYK2
PAZOPANIB	4	GAK, TYK2
DASATINIB	4	GAK, TYK2
CRIZOTINIB	4	TYK2
IMATINIB	4	CSNK2A2, GAK, TYK2
POMALIDOMIDE	4	IKZF3

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	12	RPL3, RPS6KA4, SCNN1A, STAT1, TYK2, IKZF3, CCR6, CRHR1, CISD2, CSNK2A2 (+2 more)
B	Phased (≥1) drug, not yet approved	3	TNFRSF1A, ELMO1, DDX6
C	Druggable family + PDB, no drug	9	CD28, CD58, CD80, POGLUT1, CTLA4, PPIP5K2, HLA-DPB1, HLA-DQA1, HLA-DQB1
D	Druggable family + AlphaFold only, no drug	6	CXCR5, ZPBP2, SLC22A23, UGT3A1, DGKQ, FGFRL1
E	Difficult family or no structure, no drug	45	ATXN2, CCL20, BRAP, SPIB, STAT4, SYNGR1, TJP2, TNFAIP2, TNFAIP3, TNFSF15 (+35 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
CCL20	0	CCR6
STAT4	20	TYK2, STAT1
SOCS1	0	TYK2
ZPBP2	0	IKZF3
GSDMB	0	IKZF3
DGKQ	0	GAK
TMEM175	0	GAK
ATXN2	5	—
CXCR5	33	—
BRAP	2	—
SPIB	0	—
SYNGR1	0	—
TJP2	0	—
TNFAIP2	0	—
TNFAIP3	1	—
TNFSF15	0	—
TNFSF8	0	—
TIMMDC1	0	—
DEXI	0	—
SMIM29	0	—
DLEU1	0	—
SCHIP1	0	—
ORMDL3	1	—
CD28	1	—
CD58	5	—
CD80	0	—
TNPO3	1	—
SERBP1	1	—
OLIG3	0	—
EXOC3L4	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 165.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	55
PHASE2	35
PHASE3	34
PHASE1	13
PHASE4	11
PHASE1/PHASE2	7
PHASE2/PHASE3	6
EARLY_PHASE1	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04650243	PHASE4	RECRUITING	Clinical Research of Tapering UDCA in PBC Patients With a Complete Response
NCT01510860	PHASE4	COMPLETED	Ursofalk Tablets (500 mg) Versus Ursofalk Capsules (250 mg) in the Treatment of Primary Biliary Cirrhosis
NCT02078882	PHASE4	COMPLETED	Study of Abatacept (Orencia) to Treat Primary Biliary Cirrhosis
NCT02557360	PHASE4	COMPLETED	Effectiveness of S-adenosyl-L-methionine in Patients With Primary Biliary Cirrhosis
NCT03345589	PHASE4	UNKNOWN	A Trial of 18-22mg/kg/d Ursodeoxycholic in Refractory Primary Biliary Cholangitis
NCT04376528	PHASE4	UNKNOWN	Mycophenolate Mofetil Versus Cyclosporin A in the Treatment of Primary Biliary Cholangitis-autoimmune Hepatitis Overlap Syndrome Due to Nonresponse to Standard Therapy
NCT04617561	PHASE4	UNKNOWN	Ursodeoxycholic Acid Combined With Low Dose Glucocorticoid in the Treatment of PBC With AIH Features II
NCT04618575	PHASE4	UNKNOWN	Ursodeoxycholic Acid Combined With Total Glucosides of Paeony in the Treatment of PBC With AIH Features 1
NCT04893993	PHASE4	UNKNOWN	PBC Induced Fatigue Treated With Thiamine
NCT04933292	PHASE4	UNKNOWN	A Randomised Clinical Trial Assessing the Efficacy and Safety of Mycophenolate Mofetil Versus Azathioprine for Induction of Remission in Treatment Primary Biliary Cholangitis-Autoimmune Hepatitis Overlap Syndrome
NCT06371196	PHASE4	UNKNOWN	Clinical Study on the Treatment of Elevated Total Bilirubin in Primary Biliary Cholangitis With Baobao Dan Capsule
NCT03301506	PHASE3	ACTIVE_NOT_RECRUITING	Study of Seladelpar in Participants With Primary Biliary Cholangitis (PBC)
NCT04526665	PHASE3	ACTIVE_NOT_RECRUITING	Study of Elafibranor in Patients With Primary Biliary Cholangitis (PBC)
NCT05749822	PHASE2/PHASE3	RECRUITING	Fenofibrate for Compensated Cirrhosis Patients With Primary Biliary Cholangitis
NCT05751967	PHASE3	RECRUITING	Fenofibrate Combined With Ursodeoxycholic Acid in Subjects With Primary Biliary Cholangitis
NCT06016842	PHASE3	RECRUITING	A Long-Term Study of Elafibranor in Adult Participants With Primary Biliary Cholangitis
NCT06051617	PHASE3	RECRUITING	Seladelpar in Subjects With Primary Biliary Cholangitis (PBC) and Compensated Cirrhosis
NCT06060665	PHASE3	ACTIVE_NOT_RECRUITING	Intended to Determine the Effects of Seladelpar on Normalization of Alkaline Phosphatase Levels in Subjects With Primary Biliary Cholangitis (PBC)
NCT06174402	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cholangitis
NCT06365424	PHASE2/PHASE3	RECRUITING	Fenofibrate in Patients With Primary Biliary Cholangitis (PBC)
NCT06383403	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Elafibranor in Adults With Primary Biliary Cholangitis and Inadequate Response or Intolerance to Ursodeoxycholic Acid.
NCT06427395	PHASE3	ACTIVE_NOT_RECRUITING	Open-Label Extension Study of Saroglitazar Magnesium in Participants With Primary Biliary Cholangitis
NCT06591468	PHASE2/PHASE3	ENROLLING_BY_INVITATION	A Multicenter, Randomized, Controlled Trial of Prednisone Combined With Ursodeoxycholic Acid in the Treatment of Primary Biliary Cholangitis With Moderate to Severe Interface Hepatitis Characteristics
NCT06730061	PHASE3	ACTIVE_NOT_RECRUITING	A Study of Elafibranor in Adult Japanese Participants With Primary Biliary Cholangitis (PBC)
NCT06755151	PHASE3	RECRUITING	Fenofibrate in Primary Biliary Cholangitis: a Real World Study
NCT06755541	PHASE3	RECRUITING	Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cholangitis: a Real World Study
NCT07216235	PHASE3	NOT_YET_RECRUITING	Long-Term Study to Evaluate the Safety and Efficacy in Participants With Primary Biliary Cholangitis of Saroglitazar Magnesium-V on Clinical Outcomes
NCT07282353	PHASE3	RECRUITING	A Study of CS0159 in Patients With PBC With Inadequate Response or Intolerance to UDCA
NCT07296458	PHASE3	RECRUITING	FIREFLY Trial: Fenofibrate Intervention—Randomized Evaluation in First-Line PBC Therapy
NCT07424677	PHASE3	NOT_YET_RECRUITING	Study of Saroglitazar Magnesium for PBC Patients With Incomplete Response or Intolerant to UDCA Therapy
NCT00490620	PHASE2/PHASE3	COMPLETED	Study of Combivir for Patients With Primary Biliary Cirrhosis
NCT00746486	PHASE3	TERMINATED	Ursodeoxycholic Acid Plus Budesonide Versus Ursodeoxycholic Acid Alone in Primary Biliary Cirrhosis (PBC)
NCT00805805	PHASE3	COMPLETED	Study Comparing Tetrathiomolybdate vs Standard Treatment in Primary Biliary Cirrhosis
NCT00844402	PHASE3	COMPLETED	Safety and Efficacy of Long-Term Treatment With Atorvastatin in Patients With Primary Biliary Cirrhosis
NCT01473524	PHASE3	COMPLETED	Phase 3 Study of Obeticholic Acid in Patients With Primary Biliary Cirrhosis
NCT01654731	PHASE3	COMPLETED	Phase 3 Study of Bezafibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis
NCT01857284	PHASE3	COMPLETED	Safety and Efficacy of Tauroursodeoxycholic Acid Versus Ursofalk in the Treatment of Adult Primary Biliary Cirrhosis
NCT02701166	PHASE3	UNKNOWN	The Effect of Bezafibrate on Cholestatic Itch
NCT02823353	PHASE3	COMPLETED	Fenofibrate in Combination With Ursodeoxycholic Acid in Primary Biliary Cirrhosis
NCT02823366	PHASE3	UNKNOWN	Fenofibrate for Patients With Primary Biliary Cirrhosis Who Had An Inadequate Response to Ursodeoxycholic Acid

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
URSODIOL	4	18
FENOFIBRATE	4	9
OBETICHOLIC ACID	4	7
SELADELPAR	4	7
ELAFIBRANOR	4	5
MARALIXIBAT CHLORIDE	4	2
MYCOPHENOLATE MOFETIL	4	2
THIAMINE ION	4	2
ABATACEPT	4	1
AZATHIOPRINE	4	1
BARICITINIB	4	1
CHOLESTYRAMINE	4	1
CYCLOSPORINE	4	1
ETRASIMOD	4	1
METHYLPREDNISOLONE	4	1
MODAFINIL	4	1
MOEXIPRIL	4	1
NALMEFENE	4	1
ODEVIXIBAT	4	1
PENTOXIFYLLINE	4	1
RALTEGRAVIR	4	1
TAURURSODIOL	4	1
USTEKINUMAB	4	1
BEZAFIBRATE	3	5
SAROGLITAZAR	3	5
ADEMETIONINE	3	1
CILOFEXOR	3	1
ALDAFERMIN	2	2
SETANAXIB	2	2
BERBERINE URSODEOXYCHOLATE	2	1