Budd-Chiari syndrome
diseaseOn this page
Also known as BDCHSBudd-Chiari syndrome, somaticmembranous obstruction of the inferior vena cava
Summary
Budd-Chiari syndrome (MONDO:0010947) is a disease with 3 cohort genes and 6 clinical trials.
At a glance
- Prevalence: 1-9 / 100 000 (Worldwide) [Orphanet-validated]
- Cohort genes: 3
- ClinVar variants: 227
- Phenotypes (HPO): 23
- Clinical trials: 6
Clinical features
Epidemiology
Prevalence records
12 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Worldwide | Validated |
| Point prevalence | 1-9 / 100 000 | 1.1 | Worldwide | Validated |
| Point prevalence | 1-9 / 100 000 | 1.5 | Europe | Validated |
| Annual incidence | <1 / 1 000 000 | 0.08 | Sweden | Validated |
| Annual incidence | <1 / 1 000 000 | 0.05 | Denmark | Validated |
| Annual incidence | <1 / 1 000 000 | 0.02 | Japan | Validated |
| Annual incidence | <1 / 1 000 000 | 0.04 | France | Validated |
| Annual incidence | 1-9 / 1 000 000 | 0.21 | Italy | Validated |
| Annual incidence | <1 / 1 000 000 | 0.087 | Korea, Republic of | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.14 | Sweden | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.24 | Japan | Validated |
| Point prevalence | 1-9 / 1 000 000 | 0.529 | Korea, Republic of | Validated |
Signs & symptoms
Clinical features (HPO)
23 HPO clinical features (Orphanet curated; top 23 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001409 | Portal hypertension | Very frequent (80-99%) |
| HP:0001541 | Ascites | Very frequent (80-99%) |
| HP:0001744 | Splenomegaly | Very frequent (80-99%) |
| HP:0001394 | Cirrhosis | Frequent (30-79%) |
| HP:0001945 | Fever | Frequent (30-79%) |
| HP:0002027 | Abdominal pain | Frequent (30-79%) |
| HP:0002040 | Esophageal varix | Frequent (30-79%) |
| HP:0002240 | Hepatomegaly | Frequent (30-79%) |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Frequent (30-79%) |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Frequent (30-79%) |
| HP:0030243 | Hepatic vein thrombosis | Frequent (30-79%) |
| HP:0033045 | Bipedal edema | Frequent (30-79%) |
| HP:0000083 | Renal insufficiency | Occasional (5-29%) |
| HP:0000952 | Jaundice | Occasional (5-29%) |
| HP:0001082 | Cholecystitis | Occasional (5-29%) |
| HP:0001824 | Weight loss | Occasional (5-29%) |
| HP:0002024 | Malabsorption | Occasional (5-29%) |
| HP:0002239 | Gastrointestinal hemorrhage | Occasional (5-29%) |
| HP:0002480 | Hepatic encephalopathy | Occasional (5-29%) |
| HP:0002586 | Peritonitis | Occasional (5-29%) |
| HP:0005214 | Intestinal obstruction | Occasional (5-29%) |
| HP:0005244 | Gastrointestinal infarctions | Occasional (5-29%) |
| HP:0006554 | Acute hepatic failure | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Budd-Chiari syndrome |
| Mondo ID | MONDO:0010947 |
| MeSH | D006502 |
| OMIM | 600880 |
| Orphanet | 131 |
| ICD-10-CM | I82.0 |
| ICD-11 | 1300118676 |
| SNOMED CT | 82385007 |
| UMLS | C0856761 |
| MedGen | 163632 |
| GARD | 0005968 |
| MedDRA | 10006537 |
| Is cancer (heuristic) | no |
Also known as: BDCHS · Budd-Chiari syndrome · Budd-Chiari syndrome, somatic · membranous obstruction of the inferior vena cava
Data availability: 227 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › hepatic vascular disorder › Budd-Chiari syndrome
Related subtypes (10): portal vein thrombosis, hepatic infarction, nutmeg liver, liver angiosarcoma, peliosis hepatis, portal hypertension, hepatic vein thrombosis, hepatic veno-occlusive disease, portosinusoidal vascular disease, Fontan-associated liver disease
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
227 retrieved; paginated sample, class counts are floors:
87 uncertain significance, 71 conflicting classifications of pathogenicity, 45 benign/likely benign, 8 benign, 6 likely pathogenic, 4 pathogenic/likely pathogenic, 3 likely benign, 2 pathogenic, 1 drug response
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 2734021 | NM_000130.5(F5):c.3088C>T (p.Arg1030Ter) | F5 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 2866617 | NM_000130.5(F5):c.5453del (p.Leu1818fs) | F5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2895285 | NM_000130.5(F5):c.2021del (p.Lys674fs) | F5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 430053 | NM_000130.5(F5):c.5037dup (p.Ser1680fs) | F5 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 627264 | NM_000130.5(F5):c.1830_1831dup (p.His611fs) | F5 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 14662 | NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) | INSL6 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2887062 | NM_000130.5(F5):c.4962_4971+3del | F5 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 3600169 | NM_000130.5(F5):c.5816T>G (p.Leu1939Ter) | F5 | Likely pathogenic | criteria provided, single submitter |
| 3600193 | NM_000130.5(F5):c.2846del (p.Leu949fs) | F5 | Likely pathogenic | criteria provided, single submitter |
| 3600196 | NM_000130.5(F5):c.2079T>G (p.Tyr693Ter) | F5 | Likely pathogenic | criteria provided, single submitter |
| 3600213 | NM_000130.5(F5):c.1297-1G>C | F5 | Likely pathogenic | criteria provided, single submitter |
| 3600215 | NM_000130.5(F5):c.1059del (p.Phe353fs) | F5 | Likely pathogenic | criteria provided, single submitter |
| 642 | NM_000130.4(F5):c.1601G>A (p.Arg534Gln) | F5 | drug response | reviewed by expert panel |
| 1771009 | NM_000130.5(F5):c.136C>G (p.Arg46Gly) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 255209 | NM_000130.5(F5):c.5177G>A (p.Arg1726Gln) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293550 | NM_000130.5(F5):c.*1290G>A | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293557 | NM_000130.5(F5):c.*838T>C | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293560 | NM_000130.5(F5):c.*581C>A | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293574 | NM_000130.5(F5):c.6360G>A (p.Lys2120=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293575 | NM_000130.5(F5):c.6309G>A (p.Leu2103=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293577 | NM_000130.5(F5):c.5788+4A>T | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293578 | NM_000130.5(F5):c.5721T>C (p.Cys1907=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293579 | NM_000130.5(F5):c.5589C>A (p.Pro1863=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293582 | NM_000130.5(F5):c.5490G>A (p.Leu1830=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293585 | NM_000130.5(F5):c.5419+11C>G | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293589 | NM_000130.5(F5):c.5124C>T (p.Tyr1708=) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293590 | NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293592 | NM_000130.5(F5):c.4972-14A>C | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293594 | NM_000130.5(F5):c.4835A>T (p.Asp1612Val) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 293595 | NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) | F5 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| F5 | Orphanet:131 | Budd-Chiari syndrome |
| F5 | Orphanet:326 | Congenital factor V deficiency |
| F5 | Orphanet:329217 | Cerebral sinovenous thrombosis |
| F5 | Orphanet:391320 | East Texas bleeding disorder |
| F5 | Orphanet:599579 | Factor V Amsterdam bleeding disorder |
| F5 | Orphanet:600194 | Factor V Atlanta bleeding disorder |
| JAK2 | Orphanet:131 | Budd-Chiari syndrome |
| JAK2 | Orphanet:3318 | Essential thrombocythemia |
| JAK2 | Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma |
| JAK2 | Orphanet:71493 | Familial thrombocytosis |
| JAK2 | Orphanet:729 | Polycythemia vera |
| JAK2 | Orphanet:824 | Primary myelofibrosis |
Cohort genes → proteins
3 cohort genes, 3 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 3 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| F5 | HGNC:3542 | ENSG00000198734 | P12259 | Coagulation factor V | clinvar |
| INSL6 | HGNC:6089 | ENSG00000120210 | Q9Y581 | Insulin-like peptide INSL6 | clinvar |
| JAK2 | HGNC:6192 | ENSG00000096968 | O60674 | Tyrosine-protein kinase JAK2 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| F5 | Coagulation factor V | Central regulator of hemostasis. |
| INSL6 | Insulin-like peptide INSL6 | May have a role in sperm development and fertilization. |
| JAK2 | Tyrosine-protein kinase JAK2 | Non-receptor tyrosine kinase involved in various processes such as cell growth, development, differentiation or histone modifications. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.33
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 |
|---|---|---|---|
| Kinase | 1 | 9.2× | 0.209 |
| Other/Unknown | 2 | 1.2× | 0.587 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| F5 | Other/Unknown | no | FA58C, Cupredoxin, Galactose-bd-like_sf | |
| INSL6 | Other/Unknown | no | Insulin-like, Insulin-like_pep_6, Insulin_CS | |
| JAK2 | Kinase | yes | 2.7.10.2 | FERM_domain, Prot_kinase_dom, SH2 |
Expression context
Cohort genes with no expression data: 0.
3 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 3 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| choroid plexus epithelium | 1 |
| liver | 1 |
| right lobe of liver | 1 |
| left testis | 1 |
| male germ line stem cell (sensu Vertebrata) in testis | 1 |
| right testis | 1 |
| blood vessel layer | 1 |
| calcaneal tendon | 1 |
| monocyte | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| F5 | 206 | broad | marker | right lobe of liver, liver, choroid plexus epithelium |
| INSL6 | 152 | tissue_specific | marker | male germ line stem cell (sensu Vertebrata) in testis, left testis, right testis |
| JAK2 | 272 | ubiquitous | marker | calcaneal tendon, monocyte, blood vessel layer |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| JAK2 | 6,197 |
| F5 | 1,754 |
| INSL6 | 509 |
Structural data
PDB: 2 · AlphaFold-only: 1 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| JAK2 | O60674 | 164 |
| F5 | P12259 | 18 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| INSL6 | Q9Y581 | 54.46 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 76. Enrichment computed across 3 evidence-associated genes (2 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| Defective cleavage of FV variant at a.a.534 | 1 | 1903.3× | 0.010 | F5 |
| Defective cleavage of FV variant at R334 | 1 | 1903.3× | 0.010 | F5 |
| Erythropoietin activates Phospholipase C gamma (PLCG) | 1 | 815.7× | 0.010 | JAK2 |
| Erythropoietin activates STAT5 | 1 | 815.7× | 0.010 | JAK2 |
| Interleukin-6 family signaling | 1 | 713.8× | 0.010 | JAK2 |
| IFNG signaling activates MAPKs | 1 | 713.8× | 0.010 | JAK2 |
| Interleukin-23 signaling | 1 | 634.4× | 0.010 | JAK2 |
| MAPK1 (ERK2) activation | 1 | 571.0× | 0.010 | JAK2 |
| Signaling by KIT in disease | 1 | 571.0× | 0.010 | JAK2 |
| MAPK3 (ERK1) activation | 1 | 519.1× | 0.010 | JAK2 |
| Signaling by Leptin | 1 | 519.1× | 0.010 | JAK2 |
| Signaling by Erythropoietin | 1 | 519.1× | 0.010 | JAK2 |
| Interleukin-27 signaling | 1 | 519.1× | 0.010 | JAK2 |
| Interleukin-6 signaling | 1 | 475.8× | 0.010 | JAK2 |
| Interleukin-35 Signalling | 1 | 475.8× | 0.010 | JAK2 |
| Erythropoietin activates Phosphoinositide-3-kinase (PI3K) | 1 | 475.8× | 0.010 | JAK2 |
| Regulation of IFNG signaling | 1 | 407.9× | 0.010 | JAK2 |
| Prolactin receptor signaling | 1 | 380.7× | 0.010 | JAK2 |
| Erythropoietin activates RAS | 1 | 380.7× | 0.010 | JAK2 |
| RAF-independent MAPK1/3 activation | 1 | 317.2× | 0.010 | JAK2 |
| Interleukin-2 family signaling | 1 | 317.2× | 0.010 | JAK2 |
| IL-6-type cytokine receptor ligand interactions | 1 | 317.2× | 0.010 | JAK2 |
| Amplification and propagation of coagulation cascade | 1 | 317.2× | 0.010 | F5 |
| Signaling by CSF3 (G-CSF) | 1 | 285.5× | 0.011 | JAK2 |
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 1 | 259.6× | 0.011 | JAK2 |
| Interleukin-12 family signaling | 1 | 237.9× | 0.011 | JAK2 |
| Initiation of coagulation cascade | 1 | 237.9× | 0.011 | F5 |
| Growth hormone receptor signaling | 1 | 237.9× | 0.011 | JAK2 |
| Inactivation of CSF3 (G-CSF) signaling | 1 | 219.6× | 0.011 | JAK2 |
| Signaling by RAS mutants | 1 | 211.5× | 0.011 | JAK2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| nuclear receptor-mediated mineralocorticoid signaling pathway | 1 | 8426.0× | 0.004 | JAK2 |
| symbiont-induced defense-related programmed cell death | 1 | 8426.0× | 0.004 | JAK2 |
| interleukin-35-mediated signaling pathway | 1 | 8426.0× | 0.004 | JAK2 |
| response to interleukin-12 | 1 | 4213.0× | 0.004 | JAK2 |
| positive regulation of growth factor dependent skeletal muscle satellite cell proliferation | 1 | 4213.0× | 0.004 | JAK2 |
| regulation of postsynapse to nucleus signaling pathway | 1 | 4213.0× | 0.004 | JAK2 |
| response to vitamin K | 1 | 2808.7× | 0.004 | F5 |
| positive regulation of growth hormone receptor signaling pathway | 1 | 2808.7× | 0.004 | JAK2 |
| collagen-activated signaling pathway | 1 | 2106.5× | 0.004 | JAK2 |
| granulocyte-macrophage colony-stimulating factor signaling pathway | 1 | 2106.5× | 0.004 | JAK2 |
| activation of Janus kinase activity | 1 | 2106.5× | 0.004 | JAK2 |
| post-embryonic hemopoiesis | 1 | 1404.3× | 0.004 | JAK2 |
| cellular response to interleukin-3 | 1 | 1404.3× | 0.004 | JAK2 |
| interleukin-5-mediated signaling pathway | 1 | 1404.3× | 0.004 | JAK2 |
| interleukin-23-mediated signaling pathway | 1 | 1404.3× | 0.004 | JAK2 |
| erythropoietin-mediated signaling pathway | 1 | 1404.3× | 0.004 | JAK2 |
| positive regulation of NK T cell proliferation | 1 | 1404.3× | 0.004 | JAK2 |
| positive regulation of leukocyte proliferation | 1 | 1404.3× | 0.004 | JAK2 |
| interleukin-3-mediated signaling pathway | 1 | 1203.7× | 0.004 | JAK2 |
| thrombopoietin-mediated signaling pathway | 1 | 1053.2× | 0.004 | JAK2 |
| interleukin-12-mediated signaling pathway | 1 | 936.2× | 0.004 | JAK2 |
| mammary gland epithelium development | 1 | 936.2× | 0.004 | JAK2 |
| response to hydroperoxide | 1 | 842.6× | 0.004 | JAK2 |
| regulation of nitric oxide biosynthetic process | 1 | 842.6× | 0.004 | JAK2 |
| growth hormone receptor signaling pathway via JAK-STAT | 1 | 766.0× | 0.004 | JAK2 |
| negative regulation of protein localization to chromatin | 1 | 766.0× | 0.004 | JAK2 |
| positive regulation of natural killer cell proliferation | 1 | 702.2× | 0.004 | JAK2 |
| regulation of receptor signaling pathway via JAK-STAT | 1 | 702.2× | 0.004 | JAK2 |
| positive regulation of T-helper 17 type immune response | 1 | 702.2× | 0.004 | JAK2 |
| enzyme-linked receptor protein signaling pathway | 1 | 648.1× | 0.004 | JAK2 |
Therapeutics
Drug target analysis
Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 1
Druggability breadth: 2 of 3 evidence-associated genes (67%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| F5 | EDOXABAN |
| JAK2 | FEDRATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| JAK2 | 100 | 4 |
| F5 | 2 | 4 |
| INSL6 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| EDOXABAN | 4 | F5 |
| FEDRATINIB | 4 | JAK2 |
| RUXOLITINIB | 4 | JAK2 |
| TOFACITINIB | 4 | JAK2 |
| UPADACITINIB | 4 | JAK2 |
| MOMELOTINIB | 4 | JAK2 |
| PONATINIB | 4 | JAK2 |
| AXITINIB | 4 | JAK2 |
| NICLOSAMIDE | 4 | JAK2 |
| RUXOLITINIB PHOSPHATE | 4 | JAK2 |
| INFIGRATINIB PHOSPHATE | 4 | JAK2 |
| INFIGRATINIB | 4 | JAK2 |
| ENTRECTINIB | 4 | JAK2 |
| DABRAFENIB | 4 | JAK2 |
| PACRITINIB | 4 | JAK2 |
| TOFACITINIB CITRATE | 4 | JAK2 |
| BARICITINIB | 4 | JAK2 |
| CERITINIB | 4 | JAK2 |
| BOSUTINIB | 4 | JAK2 |
| PEFICITINIB | 4 | JAK2 |
| LORLATINIB | 4 | JAK2 |
| FILGOTINIB | 4 | JAK2 |
| BRIGATINIB | 4 | JAK2 |
| ABROCITINIB | 4 | JAK2 |
| REPOTRECTINIB | 4 | JAK2 |
| DEUCRAVACITINIB | 4 | JAK2 |
| PRALSETINIB | 4 | JAK2 |
| CRAVACITINIB | 4 | JAK2 |
| PAZOPANIB | 4 | JAK2 |
| NINTEDANIB | 4 | JAK2 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| JAK2 | 2,018 | Binding:1911, Functional:51, ADMET:48, Unclassified:4, Toxicity:4 |
| F5 | 10 | Binding:10 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| JAK2 | 2.7.10.2 | non-specific protein-tyrosine kinase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| JAK2 | 2,018 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 3; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
30 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) |
|---|---|---|
| EDOXABAN | 4 | F5 |
| FEDRATINIB | 4 | JAK2 |
| RUXOLITINIB | 4 | JAK2 |
| TOFACITINIB | 4 | JAK2 |
| UPADACITINIB | 4 | JAK2 |
| MOMELOTINIB | 4 | JAK2 |
| PONATINIB | 4 | JAK2 |
| AXITINIB | 4 | JAK2 |
| NICLOSAMIDE | 4 | JAK2 |
| RUXOLITINIB PHOSPHATE | 4 | JAK2 |
| INFIGRATINIB PHOSPHATE | 4 | JAK2 |
| INFIGRATINIB | 4 | JAK2 |
| ENTRECTINIB | 4 | JAK2 |
| DABRAFENIB | 4 | JAK2 |
| PACRITINIB | 4 | JAK2 |
| TOFACITINIB CITRATE | 4 | JAK2 |
| BARICITINIB | 4 | JAK2 |
| CERITINIB | 4 | JAK2 |
| BOSUTINIB | 4 | JAK2 |
| PEFICITINIB | 4 | JAK2 |
| LORLATINIB | 4 | JAK2 |
| FILGOTINIB | 4 | JAK2 |
| BRIGATINIB | 4 | JAK2 |
| ABROCITINIB | 4 | JAK2 |
| REPOTRECTINIB | 4 | JAK2 |
| DEUCRAVACITINIB | 4 | JAK2 |
| PRALSETINIB | 4 | JAK2 |
| CRAVACITINIB | 4 | JAK2 |
| PAZOPANIB | 4 | JAK2 |
| NINTEDANIB | 4 | JAK2 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 2 | F5, JAK2 |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 0 | |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 1 | INSL6 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| INSL6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 6.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 6 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05782556 | Not specified | RECRUITING | Freiburg TIPS Registry |
| NCT06960473 | Not specified | NOT_YET_RECRUITING | A Prospective Study on IVUS and DSA Guidance in the Treatment of Budd-Chiari Syndrome |
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