Summary
Drug-induced liver injury (MONDO:0005359) is a disease with 25 cohort genes (92 GWAS associations across 38 studies) and 54 clinical trials. The dominant Reactome pathway is Interferon gamma signaling (7 cohort genes). Top therapeutic interventions include acetaminophen, cefuroxime, and ursodiol.
At a glance
- Cohort genes: 25
- GWAS associations: 92
- Clinical trials: 54
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | drug-induced liver injury |
| Mondo ID | MONDO:0005359 |
| EFO | EFO:0004228 |
| MeSH | D056486 |
| SNOMED CT | 197352008 |
| UMLS | C0860207 |
| MedGen | 163652 |
| Is cancer (heuristic) | no |
Also known as: drug induced hepatotoxicity · drug-induced disorder of liver
Data availability: 92 GWAS associations (38 studies) · 4 cell lines.
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 › liver disorder › drug-induced liver injury
Related subtypes (31): polycystic echinococcosis, autosomal dominant polycystic liver disease, hepatorenal syndrome, hepatitis, hepatic vascular disorder, hepatic porphyria, hepatopulmonary syndrome, fatty liver disease, cirrhosis of liver, perinatal jaundice due to hepatocellular damage, Aagenaes syndrome, transient familial neonatal hyperbilirubinemia, hyperbiliverdinemia, transient infantile hypertriglyceridemia and hepatosteatosis, idiopathic copper-associated cirrhosis, familial intrahepatic cholestasis, bile duct cyst, nodular regenerative hyperplasia of the liver, hepatoportal sclerosis, primitive portal vein thrombosis, glycogen storage disease due to liver phosphorylase kinase deficiency, liver and intrahepatic bile duct neoplasm, alcoholic liver disease, early-onset familial noncirrhotic portal hypertension, liver failure, fibrotic liver disease, intestinal failure–associated liver disease, liver abscess (disease), membranous obstruction of inferior vena cava, liver disease, severe congenital, cystic fibrosis-related liver disease
Subtypes (1): drug-induced hepatitis
Genetics & variants
GWAS landscape
92 GWAS associations across 38 studies. Top hits map to 25 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| HLA-B*57:01 | 3e-97 | | ? | 36.62 |
| rs2395029 | 6e-97 | HCP5 | ? | 35.48 |
| HLA-C*06:02 | 4e-74 | | ? | 10.11 |
| HLA-DQB1*03:03 | 1e-63 | | ? | 10.18 |
| HLA-DRB1*07:01 | 4e-35 | | ? | 4.02 |
| HLA-DQA1*02:01 | 5e-35 | | ? | 4.02 |
| rs3129900 | 7e-25 | TSBP1, TSBP1-AS1 | ? | 7.5 |
| rs9274407 | 5e-14 | HLA-DQB1 | ? | 3.1 |
| A*33:01 | 4e-13 | | ? | 5 |
| A33:01-B14:02-C*08:02 | 4e-13 | | ? | 5.7 |
| rs1495741 | 7e-11 | NAT2 - PSD3 | A | 6.01 |
| rs2523822 | 2e-10 | HLA-G - POLR1HASP | ? | 2.3 |
| rs146644517 | 9e-10 | HCG27 - HLA-C | A | |
| rs117491755 | 2e-09 | ASTN2 | ? | 4.37 |
| rs114811931 | 3e-09 | LINC02159 - GABRB2 | ? | 6.59 |
| rs28521457 | 5e-09 | LRBA | ? | 2.1 |
| rs116561224 | 7e-09 | RNU6-1037P - MIR5011 | ? | 5.4 |
| rs10937275 | 1e-08 | ST6GAL1 | ? | 4.1 |
| rs72631567 | 1e-08 | RNU6-649P - LINC01248 | ? | 2 |
| rs17036170 | 2e-08 | PPARG | ? | 11.3 |
| rs114577328 | 2e-08 | POLR1HASP, POLR1HASP | ? | 2.7 |
| rs2205986 | 2e-08 | SYT14 | ? | 8.3 |
| HLA-A*01:01 | 2e-08 | | ? | 1.86 |
| rs7828135 | 5e-08 | TPD52 | ? | |
| rs12597413 | 5e-08 | LINC02182 | T | 0.57 |
| rs72696020 | 6e-08 | HISLA | ? | 7.8 |
| rs12693892 | 7e-08 | LINC01877 | ? | |
| A3*33:01 | 8e-08 | | ? | 2.6 |
| rs186920977 | 1e-07 | CCDC85A - PPIAP63 | ? | 7.22 |
| rs1497546 | 2e-07 | OR5H8 - OR5K4 | ? | 6.57 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST007774 | Cirulli ET | 2019 | 1,806 | 10,397 | A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury. |
| GCST004086 | Nicoletti P | 2016 | 862 | 10,588 | Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. |
| GCST001673 | Urban TJ | 2012 | 783 | 3,001 | Limited contribution of common genetic variants to risk for liver injury due to a variety of drugs. |
| GCST002918 | Parham LR | 2015 | 775 | 0 | Comprehensive genome-wide evaluation of lapatinib-induced liver injury yields a single genetic signal centered on known risk allele HLA-DRB1*07:01. |
| GCST003426 | Nicoletti P | 2016 | 620 | 10,588 | HLA-DRB116: 01-DQB105: 02 is a novel genetic risk factor for flupirtine-induced liver injury. |
| GCST004079 | Nicoletti P | 2016 | 474 | 10,588 | Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. |
| GCST002993 | Cao S | 2015 | 329 | 0 | Genome-wide Association Study on Platinum-induced Hepatotoxicity in Non-Small Cell Lung Cancer Patients. |
| GCST004081 | Nicoletti P | 2016 | 323 | 10,588 | Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study. |
| GCST90270222 | Nakamura R | 2022 | 231 | 2,994 | Significant association between HLA-B*35:01 and onset of drug-induced liver injury caused by Kampo medicines in Japanese. |
| GCST001036 | Lucena MI | 2011 | 201 | 0 | Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 2 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 48 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 35 |
| low_freq (0.01-0.05) | 9 |
| rare (<0.01) | 1 |
| unknown | 5 |
Functional consequences
| Consequence | Count |
|---|
| intron_variant | 22 |
| unknown | 12 |
| intergenic_variant | 12 |
| non_coding_transcript_exon_variant | 2 |
| missense_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| HLA-B*57:01 | | | | 0.04 | | | 3e-97 | Tier 4: intronic/intergenic |
| rs2395029 | 6 | 31464003 | T>G | 0.4 | non_coding_transcript_exon_variant | HCP5 | 6e-97 | Tier 4: intronic/intergenic |
| HLA-C*06:02 | | | | 0.09 | | | 4e-74 | Tier 4: intronic/intergenic |
| HLA-DQB1*03:03 | | | | 0.05 | | | 1e-63 | Tier 4: intronic/intergenic |
| HLA-DRB1*07:01 | | | | 0.13 | | | 4e-35 | Tier 4: intronic/intergenic |
| HLA-DQA1*02:01 | | | | 0.13 | | | 5e-35 | Tier 4: intronic/intergenic |
| rs3129900 | 6 | 32338202 | G>T | 0.105 | intron_variant | TSBP1, TSBP1-AS1 | 7e-25 | Tier 4: intronic/intergenic |
| rs9274407 | 6 | 32665055 | A>C,G,T | 0.05 | missense_variant | HLA-DQB1 | 5e-14 | Tier 1: coding |
| A*33:01 | | | | 0.01 | | | 4e-13 | Tier 4: intronic/intergenic |
| A33:01-B14:02-C*08:02 | | | | 0.009 | | | 4e-13 | Tier 4: intronic/intergenic |
| rs1495741 | 8 | 18415371 | G>A | 0.41 | intergenic_variant | NAT2 - PSD3 | 7e-11 | Tier 4: intronic/intergenic |
| rs2523822 | 6 | 29860883 | A>C,G,T | 0.05 | intron_variant | HLA-G - POLR1HASP | 2e-10 | Tier 4: intronic/intergenic |
| rs146644517 | 6 | 31211705 | G>A | 0.05 | intergenic_variant | HCG27 - HLA-C | 9e-10 | Tier 4: intronic/intergenic |
| rs117491755 | 9 | 116881377 | A>C,T | 0.037 | intron_variant | ASTN2 | 2e-09 | Tier 4: intronic/intergenic |
| rs114811931 | 5 | 161257724 | T>C | 0.05 | intergenic_variant | LINC02159 - GABRB2 | 3e-09 | Tier 4: intronic/intergenic |
| rs28521457 | 4 | 150759175 | G>A,C | 0.04 | intron_variant | LRBA | 5e-09 | Tier 4: intronic/intergenic |
| rs116561224 | 18 | 66962261 | A>G | 0.09 | intergenic_variant | RNU6-1037P - MIR5011 | 7e-09 | Tier 4: intronic/intergenic |
| rs10937275 | 3 | 186933001 | A>C,G,T | 0.09 | intron_variant | ST6GAL1 | 1e-08 | Tier 4: intronic/intergenic |
| rs72631567 | 2 | 5092045 | A>G | 0.03 | intergenic_variant | RNU6-649P - LINC01248 | 1e-08 | Tier 4: intronic/intergenic |
| rs17036170 | 3 | 12288912 | G>A,T | 0.05 | intron_variant | PPARG | 2e-08 | Tier 4: intronic/intergenic |
| rs114577328 | 6 | 29959505 | G>C | 0.01 | intron_variant | POLR1HASP, POLR1HASP | 2e-08 | Tier 4: intronic/intergenic |
| rs2205986 | 1 | 209942767 | G>A,T | 0.05 | intron_variant | SYT14 | 2e-08 | Tier 4: intronic/intergenic |
| HLA-A*01:01 | | | | 0.18 | | | 2e-08 | Tier 4: intronic/intergenic |
| rs7828135 | 8 | 80146584 | T>C | 0.05 | intron_variant | TPD52 | 5e-08 | Tier 4: intronic/intergenic |
| rs12597413 | 16 | 88191452 | C>A,T | 0.05 | intron_variant | LINC02182 | 5e-08 | Tier 4: intronic/intergenic |
| rs72696020 | 14 | 88105563 | G>A | | intron_variant | HISLA | 6e-08 | Tier 4: intronic/intergenic |
| rs12693892 | 2 | 199619119 | A>G | 0.05 | intron_variant | LINC01877 | 7e-08 | Tier 4: intronic/intergenic |
| A3*33:01 | | | | 0.01 | | | 8e-08 | Tier 4: intronic/intergenic |
| rs186920977 | 2 | 56422795 | G>A | 0.05 | intergenic_variant | CCDC85A - PPIAP63 | 1e-07 | Tier 4: intronic/intergenic |
| rs1497546 | 3 | 98315682 | G>A | 0.02 | intron_variant | OR5H8 - OR5K4 | 2e-07 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 45 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| RIPOR2 | Orphanet:90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB |
| LRBA | Orphanet:445018 | Syndromic autoimmune enteropathy due to LRBA deficiency |
| SYT14 | Orphanet:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome |
| MCTP2 | Orphanet:1596 | Distal deletion 15q syndrome |
| HLA-A | Orphanet:179 | Birdshot chorioretinopathy |
| HLA-B | Orphanet:117 | Behçet disease |
| HLA-B | Orphanet:275798 | Pulmonary arterial hypertension associated with connective tissue disease |
| HLA-B | Orphanet:29207 | Reactive arthritis |
| HLA-B | Orphanet:3287 | Takayasu arteritis |
| HLA-B | Orphanet:36426 | Stevens-Johnson syndrome |
| HLA-B | Orphanet:397 | Giant cell arteritis |
| HLA-C | Orphanet:585909 | B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) |
| HLA-DQA1 | Orphanet:391490 | Adult-onset myasthenia gravis |
| HLA-DQA1 | Orphanet:930 | Idiopathic achalasia |
| HLA-DQB1 | Orphanet:2073 | Narcolepsy type 1 |
| HLA-DQB1 | Orphanet:477738 | Pediatric multiple sclerosis |
| HLA-DQB1 | Orphanet:703 | Bullous pemphigoid |
| HLA-DQB1 | Orphanet:83465 | Narcolepsy type 2 |
| HLA-DQB1 | Orphanet:930 | Idiopathic achalasia |
| HLA-DRB1 | Orphanet:2073 | Narcolepsy type 1 |
| HLA-DRB1 | Orphanet:220393 | Diffuse cutaneous systemic sclerosis |
| HLA-DRB1 | Orphanet:220402 | Limited cutaneous systemic sclerosis |
| HLA-DRB1 | Orphanet:220407 | Limited systemic sclerosis |
| HLA-DRB1 | Orphanet:3437 | Vogt-Koyanagi-Harada disease |
| HLA-DRB1 | Orphanet:397 | Giant cell arteritis |
| HLA-DRB1 | Orphanet:477738 | Pediatric multiple sclerosis |
| HLA-DRB1 | Orphanet:536 | Systemic lupus erythematosus |
| HLA-DRB1 | Orphanet:545 | Follicular lymphoma |
| HLA-DRB1 | Orphanet:703 | Bullous pemphigoid |
| HLA-DRB1 | Orphanet:747 | Autoimmune pulmonary alveolar proteinosis |
| HLA-DRB1 | Orphanet:797 | Sarcoidosis |
| HLA-DRB1 | Orphanet:83465 | Narcolepsy type 2 |
| HLA-DRB1 | Orphanet:85414 | Systemic-onset juvenile idiopathic arthritis |
| IRF6 | Orphanet:1300 | Autosomal dominant popliteal pterygium syndrome |
| IRF6 | Orphanet:141291 | Cleft lip and alveolus |
| IRF6 | Orphanet:199302 | Isolated cleft lip |
| IRF6 | Orphanet:199306 | Cleft lip/palate |
| IRF6 | Orphanet:708014 | Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment |
| IRF6 | Orphanet:888 | Van der Woude syndrome |
| IRF6 | Orphanet:99798 | Oligodontia |
| PPARG | Orphanet:146 | Differentiated thyroid carcinoma |
| PPARG | Orphanet:251576 | Gliosarcoma |
| PPARG | Orphanet:251579 | Giant cell glioblastoma |
| PPARG | Orphanet:696242 | PPARG-associated congenital generalized lipodystrophy |
| PPARG | Orphanet:79083 | PPARG-related familial partial lipodystrophy |
Cohort genes → proteins
25 cohort genes, 24 distinct canonical proteins.
Evidence partition
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| ST6GAL1 | HGNC:10860 | ENSG00000073849 | P15907 | Beta-galactoside alpha-2,6-sialyltransferase 1 | gwas |
| TPD52 | HGNC:12005 | ENSG00000076554 | P55327 | Tumor protein D52 | gwas |
| SLC38A1 | HGNC:13447 | ENSG00000111371 | Q9H2H9 | Sodium-coupled neutral amino acid symporter 1 | gwas |
| RNF24 | HGNC:13779 | ENSG00000101236 | Q9Y225 | RING finger protein 24 | gwas |
| RIPOR2 | HGNC:13872 | ENSG00000111913 | Q9Y4F9 | Rho family-interacting cell polarization regulator 2 | gwas |
| OR5H2 | HGNC:14752 | ENSG00000197938 | Q8NGV7 | Olfactory receptor 5H2 | gwas |
| PRND | HGNC:15748 | ENSG00000171864 | Q9UKY0 | Prion-like protein doppel | gwas |
| NEBL | HGNC:16932 | ENSG00000078114 | O76041 | Nebulette | gwas |
| ASTN2 | HGNC:17021 | ENSG00000148219 | O75129 | Astrotactin-2 | gwas |
| LRBA | HGNC:1742 | ENSG00000198589 | P50851 | Lipopolysaccharide-responsive and beige-like anchor protein | gwas |
| SYT14 | HGNC:23143 | ENSG00000143469 | Q8NB59 | Synaptotagmin-14 | gwas |
| TMED7 | HGNC:24253 | ENSG00000134970 | Q9Y3B3 | Transmembrane emp24 domain-containing protein 7 | gwas |
| CYCSP5 | HGNC:24416 | ENSG00000227735 | | CYCS pseudogene 5 | gwas |
| MCTP2 | HGNC:25636 | ENSG00000140563 | Q6DN12 | Multiple C2 and transmembrane domain-containing protein 2 | gwas |
| AGBL4 | HGNC:25892 | ENSG00000186094 | Q5VU57 | Cytosolic carboxypeptidase 6 | gwas |
| ALG10B | HGNC:31088 | ENSG00000175548 | Q5I7T1 | Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B | gwas |
| ERN1 | HGNC:3449 | ENSG00000178607 | O75460 | Serine/threonine-protein kinase/endoribonuclease IRE1 | gwas |
| HLA-A | HGNC:4931 | ENSG00000206503 | P04439 | HLA class I histocompatibility antigen, A alpha chain | gwas |
| HLA-B | HGNC:4932 | ENSG00000234745 | P01889 | HLA class I histocompatibility antigen, B alpha chain | gwas |
| HLA-C | HGNC:4933 | ENSG00000204525 | P10321 | HLA class I histocompatibility antigen, C alpha chain | gwas |
| HLA-DQA1 | HGNC:4942 | ENSG00000196735 | P01909 | HLA class II histocompatibility antigen, DQ alpha 1 chain | gwas |
| HLA-DQB1 | HGNC:4944 | ENSG00000179344 | P01920 | HLA class II histocompatibility antigen, DQ beta 1 chain | gwas |
| HLA-DRB1 | HGNC:4948 | ENSG00000196126 | P01911 | HLA class II histocompatibility antigen, DRB1 beta chain | gwas |
| IRF6 | HGNC:6121 | ENSG00000117595 | O14896 | Interferon regulatory factor 6 | gwas |
| PPARG | HGNC:9236 | ENSG00000132170 | P37231 | Peroxisome proliferator-activated receptor gamma | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| ST6GAL1 | Beta-galactoside alpha-2,6-sialyltransferase 1 | Transfers sialic acid from CMP-sialic acid to galactose-containing acceptor substrates. |
| SLC38A1 | Sodium-coupled neutral amino acid symporter 1 | Symporter that cotransports short-chain neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane. |
| RNF24 | RING finger protein 24 | May play a role in TRPCs intracellular trafficking. |
| RIPOR2 | Rho family-interacting cell polarization regulator 2 | Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization. |
| OR5H2 | Olfactory receptor 5H2 | Odorant receptor. |
| PRND | Prion-like protein doppel | Required for normal acrosome reaction and for normal male fertility. |
| NEBL | Nebulette | Binds to actin and plays an important role in the assembly of the Z-disk. |
| ASTN2 | Astrotactin-2 | Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. |
| 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. |
| SYT14 | Synaptotagmin-14 | May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. |
| TMED7 | Transmembrane emp24 domain-containing protein 7 | Potential role in vesicular protein trafficking, mainly in the early secretory pathway. |
| MCTP2 | Multiple C2 and transmembrane domain-containing protein 2 | Might play a role in the development of cardiac outflow tract. |
| AGBL4 | Cytosolic carboxypeptidase 6 | Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins. |
| ALG10B | Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B | Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. |
| ERN1 | Serine/threonine-protein kinase/endoribonuclease IRE1 | Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR). |
| HLA-A | HLA class I histocompatibility antigen, A alpha chain | Antigen-presenting major histocompatibility complex class I (MHCI) molecule. |
| HLA-B | HLA class I histocompatibility antigen, B alpha chain | Antigen-presenting major histocompatibility complex class I (MHCI) molecule. |
| HLA-C | HLA class I histocompatibility antigen, C alpha chain | Antigen-presenting major histocompatibility complex class I (MHCI) molecule with an important role in reproduction and antiviral immunity. |
| HLA-DQA1 | HLA class II histocompatibility antigen, DQ alpha 1 chain | Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. |
| HLA-DQB1 | HLA class II histocompatibility antigen, DQ beta 1 chain | Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC) and presents them on the cell surface for recognition by the CD4 T-cells. |
| HLA-DRB1 | HLA class II histocompatibility antigen, DRB1 beta chain | A beta chain of antigen-presenting major histocompatibility complex class II (MHCII) molecule. |
| IRF6 | Interferon regulatory factor 6 | Probable DNA-binding transcriptional activator. |
| PPARG | Peroxisome proliferator-activated receptor gamma | Ligand-activated transcription factor that forms obligate heterodimers with the retinoic acid receptor and acts as a key regulator of biological processes, such as adipocyte differentiation, lipid metabolism, glucose homeostasis and beta-o… |
Protein-family classification
Druggable: 12 · Difficult: 3 · Unknown: 10 · Druggable fraction: 0.48
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 | 6 | 7.0× | 0.002 |
| Nuclear receptor | 1 | 15.4× | 0.298 |
| Complement | 1 | 10.7× | 0.298 |
| Protease | 1 | 1.5× | 0.937 |
| Scaffold/PPI | 2 | 1.4× | 0.937 |
| Kinase | 1 | 1.1× | 0.937 |
| GPCR | 1 | 1.0× | 0.937 |
| Other/Unknown | 10 | 0.7× | 0.963 |
| Enzyme (other) | 1 | 0.5× | 0.963 |
| Transcription factor | 1 | 0.3× | 0.963 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| ST6GAL1 | Enzyme (other) | yes | 2.4.99.1 | Glyco_trans_29, Sialyl_trans, GT29-like_sf |
| TPD52 | Other/Unknown | no | | TPD52 |
| SLC38A1 | Other/Unknown | no | | AA_transpt_TM |
| RNF24 | Transcription factor | no | | Znf_RING, Znf_RING-CH, Znf_RING/FYVE/PHD |
| RIPOR2 | Other/Unknown | no | | ARM-like, ARM-type_fold, RIPOR3 |
| OR5H2 | GPCR | yes | | GPCR_Rhodpsn, Olfact_rcpt, GPCR_Rhodpsn_7TM |
| PRND | Other/Unknown | no | | Doppel, Prion/Doppel_prot_b-ribbon_dom, Prion/Doppel_b-ribbon_dom_sf |
| NEBL | Scaffold/PPI | no | | Nebulin_repeat, SH3_domain, Nebulette_SH3 |
| ASTN2 | Complement | yes | | MACPF, Astrotactin, FN3_sf |
| LRBA | Scaffold/PPI | no | | BEACH_dom, WD40_rpt, NBEA-like_DUF1088 |
| SYT14 | Other/Unknown | no | | C2_dom, C2_domain_sf, SYT14/14L/16 |
| TMED7 | Other/Unknown | no | | GOLD_dom, Emp24-like, GOLD_dom_sf |
| CYCSP5 | Other/Unknown | no | | |
| MCTP2 | Other/Unknown | no | | C2_dom, MCTP_C, C2_domain_sf |
| AGBL4 | Protease | yes | | Peptidase_M14, Pepdidase_M14_N, Cytosolic_carboxypeptidase |
| ALG10B | Other/Unknown | no | | Alg10 |
| ERN1 | Kinase | yes | | Prot_kinase_dom, Ser/Thr_kinase_AS, KEN_dom |
| HLA-A | Antibody/Immunoglobulin | yes | | MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set |
| HLA-B | Antibody/Immunoglobulin | yes | | MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set |
| HLA-C | Antibody/Immunoglobulin | yes | | MHC_I_a_a1/a2, Ig_C1-set, Ig-like_dom |
| HLA-DQA1 | Antibody/Immunoglobulin | yes | | MHC_II_a_N, Ig/MHC_CS, Ig_C1-set |
| HLA-DQB1 | Antibody/Immunoglobulin | yes | | MHC_II_b_N, Ig/MHC_CS, Ig_C1-set |
| HLA-DRB1 | Antibody/Immunoglobulin | yes | | MHC_II_b_N, Ig/MHC_CS, Ig_C1-set |
| IRF6 | Other/Unknown | no | | Interferon_reg_fact_DNA-bd_dom, SMAD_FHA_dom_sf, SMAD-like_dom_sf |
| PPARG | Nuclear receptor | yes | | Nucl_hrmn_rcpt_lig-bd, Znf_hrmn_rcpt, Nuclear_hrmn_rcpt |
Expression context
Cohort genes with no expression data: 0.
22 cohort genes are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|
| narrow (1-5 tissues) | 1 |
| moderate (6-20) | 0 |
| broad (>20) | 24 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| blood | 5 |
| secondary oocyte | 4 |
| granulocyte | 4 |
| buccal mucosa cell | 3 |
| male germ line stem cell (sensu Vertebrata) in testis | 3 |
| spleen | 3 |
| right lung | 3 |
| lateral nuclear group of thalamus | 2 |
| monocyte | 2 |
| upper leg skin | 2 |
| islet of Langerhans | 2 |
| calcaneal tendon | 2 |
| liver | 1 |
| renal medulla | 1 |
| right lobe of liver | 1 |
| jejunal mucosa | 1 |
| seminal vesicle | 1 |
| superficial temporal artery | 1 |
| pericardium | 1 |
| mononuclear cell | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| ST6GAL1 | 294 | ubiquitous | marker | liver, right lobe of liver, renal medulla |
| TPD52 | 291 | ubiquitous | marker | jejunal mucosa, lateral nuclear group of thalamus, secondary oocyte |
| SLC38A1 | 282 | ubiquitous | marker | lateral nuclear group of thalamus, seminal vesicle, superficial temporal artery |
| RNF24 | 257 | ubiquitous | marker | secondary oocyte, blood, pericardium |
| RIPOR2 | 250 | broad | marker | blood, monocyte, mononuclear cell |
| OR5H2 | 5 | | yes | granulocyte, sural nerve, colonic epithelium |
| PRND | 98 | tissue_specific | marker | right testis, left testis, adult organism |
| NEBL | 282 | broad | marker | heart right ventricle, myocardium, cranial nerve II |
| ASTN2 | 236 | ubiquitous | marker | buccal mucosa cell, trigeminal ganglion, dorsal root ganglion |
| LRBA | 274 | ubiquitous | marker | upper leg skin, bronchial epithelial cell, epithelium of bronchus |
| SYT14 | 89 | broad | marker | male germ line stem cell (sensu Vertebrata) in testis, cortical plate, islet of Langerhans |
| TMED7 | 291 | ubiquitous | marker | choroid plexus epithelium, islet of Langerhans, calcaneal tendon |
| CYCSP5 | 97 | | yes | primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, corpus callosum |
| MCTP2 | 234 | broad | marker | germinal epithelium of ovary, secondary oocyte, buccal mucosa cell |
| AGBL4 | 149 | broad | marker | buccal mucosa cell, tendon of biceps brachii, male germ line stem cell (sensu Vertebrata) in testis |
| ALG10B | 223 | ubiquitous | yes | calcaneal tendon, pigmented layer of retina, tibia |
| ERN1 | 245 | ubiquitous | marker | parotid gland, adrenal tissue, decidua |
| HLA-A | 134 | ubiquitous | marker | blood, granulocyte, stromal cell of endometrium |
| HLA-B | 134 | ubiquitous | marker | blood, spleen, granulocyte |
| HLA-C | 134 | ubiquitous | marker | blood, right lung, spleen |
| HLA-DQA1 | 244 | broad | marker | gall bladder, rectum, monocyte |
| HLA-DQB1 | 268 | broad | marker | right lung, spleen, upper lobe of left lung |
| HLA-DRB1 | 131 | tissue_specific | marker | vermiform appendix, granulocyte, right lung |
| IRF6 | 228 | broad | marker | secondary oocyte, upper leg skin, esophagus squamous epithelium |
| PPARG | 194 | ubiquitous | marker | omental fat pad, peritoneum, adipose tissue of abdominal region |
Protein interactions among cohort
Intra-cohort edges: 9.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| PPARG | 7,747 |
| HLA-DRB1 | 3,448 |
| ERN1 | 3,212 |
| HLA-B | 3,209 |
| TMED7 | 1,907 |
| IRF6 | 1,897 |
| RIPOR2 | 1,688 |
| SLC38A1 | 1,613 |
| ASTN2 | 1,610 |
| NEBL | 1,384 |
Intra-cohort edges
| A | B | Sources |
|---|
| HLA-A | HLA-B | biogrid_interaction, intact |
| HLA-A | HLA-C | biogrid_interaction, intact |
| HLA-A | HLA-DQA1 | biogrid_interaction |
| HLA-A | HLA-DQB1 | biogrid_interaction |
| HLA-B | HLA-C | biogrid_interaction, intact |
| HLA-B | ST6GAL1 | biogrid_interaction, intact, string_interaction |
| HLA-C | HLA-DQB1 | intact |
| HLA-C | ST6GAL1 | biogrid_interaction, intact |
| HLA-DQA1 | HLA-DQB1 | biogrid_interaction, intact |
Structural data
PDB: 15 · AlphaFold-only: 9 · No structure: 1
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| HLA-A | P04439 | 403 |
| PPARG | P37231 | 380 |
| HLA-B | P01889 | 237 |
| HLA-DRB1 | P01911 | 108 |
| HLA-DQA1 | P01909 | 28 |
| ERN1 | O75460 | 26 |
| HLA-C | P10321 | 13 |
| HLA-DQB1 | P01920 | 10 |
| ST6GAL1 | P15907 | 4 |
| ASTN2 | O75129 | 3 |
| RNF24 | Q9Y225 | 1 |
| PRND | Q9UKY0 | 1 |
| NEBL | O76041 | 1 |
| LRBA | P50851 | 1 |
| MCTP2 | Q6DN12 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|
| ALG10B | Q5I7T1 | 93.14 |
| OR5H2 | Q8NGV7 | 88.50 |
| AGBL4 | Q5VU57 | 87.59 |
| TMED7 | Q9Y3B3 | 84.82 |
| SLC38A1 | Q9H2H9 | 79.81 |
| IRF6 | O14896 | 74.19 |
| TPD52 | P55327 | 69.11 |
| RIPOR2 | Q9Y4F9 | 66.28 |
| SYT14 | Q8NB59 | 65.50 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 69. Enrichment computed across 25 evidence-associated genes (18 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 18 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| Interferon gamma signaling | 7 | 48.8× | 3e-09 | HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, IRF6 |
| Endosomal/Vacuolar pathway | 3 | 173.0× | 2e-05 | HLA-A, HLA-B, HLA-C |
| Interferon alpha/beta signaling | 4 | 33.8× | 1e-04 | HLA-A, HLA-B, HLA-C, IRF6 |
| Antigen Presentation: Folding, assembly and peptide loading of class I MHC | 3 | 65.6× | 2e-04 | HLA-A, HLA-B, HLA-C |
| Translocation of ZAP-70 to Immunological synapse | 2 | 70.5× | 0.004 | HLA-DQA1, HLA-DRB1 |
| ER-Phagosome pathway | 3 | 21.6× | 0.004 | HLA-A, HLA-B, HLA-C |
| Phosphorylation of CD3 and TCR zeta chains | 2 | 60.4× | 0.005 | HLA-DQA1, HLA-DRB1 |
| Co-inhibition by PD-1 | 2 | 57.7× | 0.005 | HLA-DQA1, HLA-DRB1 |
| DAP12 interactions | 2 | 52.9× | 0.005 | HLA-B, HLA-C |
| SARS-CoV-2 activates/modulates innate and adaptive immune responses | 3 | 14.9× | 0.007 | HLA-A, HLA-B, HLA-C |
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 3 | 14.5× | 0.007 | HLA-A, HLA-B, HLA-C |
| Generation of second messenger molecules | 2 | 38.5× | 0.007 | HLA-DQA1, HLA-DRB1 |
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | 2 | 23.1× | 0.018 | ST6GAL1, ALG10B |
| Neurotransmitter uptake and metabolism In glial cells | 1 | 211.5× | 0.023 | SLC38A1 |
| MECP2 regulates transcription factors | 1 | 126.9× | 0.036 | PPARG |
| Downstream TCR signaling | 2 | 14.3× | 0.037 | HLA-DQA1, HLA-DRB1 |
| Astrocytic Glutamate-Glutamine Uptake And Metabolism | 1 | 105.7× | 0.038 | SLC38A1 |
| Maturation of protein 3a | 1 | 70.5× | 0.051 | ST6GAL1 |
| Nef mediated downregulation of MHC class I complex cell surface expression | 1 | 63.4× | 0.054 | HLA-A |
| MHC class II antigen presentation | 2 | 9.9× | 0.056 | HLA-DQA1, HLA-DRB1 |
| Translation of Structural Proteins | 1 | 48.8× | 0.064 | ST6GAL1 |
| N-Glycan antennae elongation | 1 | 42.3× | 0.070 | ST6GAL1 |
| N-glycan antennae elongation in the medial/trans-Golgi | 1 | 31.7× | 0.089 | ST6GAL1 |
| IRE1alpha activates chaperones | 1 | 28.8× | 0.091 | ERN1 |
| Termination of O-glycan biosynthesis | 1 | 27.6× | 0.091 | ST6GAL1 |
| Asparagine N-linked glycosylation | 2 | 6.7× | 0.091 | ST6GAL1, ALG10B |
| Translation of Structural Proteins | 1 | 22.7× | 0.107 | ST6GAL1 |
| Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 | 1 | 21.1× | 0.110 | PPARG |
| SUMOylation of intracellular receptors | 1 | 18.7× | 0.120 | PPARG |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 21 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| positive regulation of T cell mediated cytotoxicity | 4 | 97.3× | 2e-05 | HLA-A, HLA-B, HLA-C, HLA-DRB1 |
| detection of bacterium | 3 | 200.6× | 3e-05 | HLA-A, HLA-B, HLA-DRB1 |
| antigen processing and presentation of endogenous peptide antigen via MHC class Ib | 3 | 185.2× | 3e-05 | HLA-A, HLA-B, HLA-C |
| antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent | 3 | 185.2× | 3e-05 | HLA-A, HLA-B, HLA-C |
| peptide antigen assembly with MHC class II protein complex | 3 | 150.5× | 4e-05 | HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| immune response | 6 | 13.4× | 1e-04 | HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| antigen processing and presentation of exogenous peptide antigen via MHC class II | 3 | 77.7× | 2e-04 | HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| positive regulation of immune response | 3 | 68.8× | 3e-04 | HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| positive regulation of T cell activation | 3 | 63.4× | 3e-04 | HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| protection from natural killer cell mediated cytotoxicity | 2 | 267.5× | 5e-04 | HLA-A, HLA-B |
| adaptive immune response | 4 | 16.1× | 0.002 | HLA-B, HLA-C, HLA-DQA1, HLA-DQB1 |
| T cell receptor signaling pathway | 3 | 21.7× | 0.006 | HLA-A, HLA-DQB1, HLA-DRB1 |
| regulation of interleukin-4 production | 1 | 802.5× | 0.019 | HLA-DRB1 |
| negative regulation of establishment of T cell polarity | 1 | 802.5× | 0.019 | RIPOR2 |
| negative regulation of protein localization to cell leading edge | 1 | 802.5× | 0.019 | RIPOR2 |
| antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent | 1 | 401.2× | 0.022 | HLA-A |
| antigen processing and presentation of endogenous peptide antigen via MHC class II | 1 | 401.2× | 0.022 | HLA-DRB1 |
| regulation of interleukin-10 production | 1 | 401.2× | 0.022 | HLA-DRB1 |
| mRNA splicing, via endonucleolytic cleavage and ligation | 1 | 401.2× | 0.022 | ERN1 |
| anterograde axonal transport of mitochondrion | 1 | 401.2× | 0.022 | AGBL4 |
| negative regulation of connective tissue replacement involved in inflammatory response wound healing | 1 | 401.2× | 0.022 | PPARG |
| positive regulation of memory T cell activation | 1 | 401.2× | 0.022 | HLA-A |
| negative regulation of Rho guanyl-nucleotide exchange factor activity | 1 | 401.2× | 0.022 | RIPOR2 |
| positive regulation of CD8-positive, alpha-beta T cell activation | 1 | 401.2× | 0.022 | HLA-A |
| negative regulation of T cell proliferation | 2 | 31.5× | 0.022 | RIPOR2, HLA-DRB1 |
| humoral immune response | 2 | 26.8× | 0.022 | HLA-DQB1, HLA-DRB1 |
| T cell mediated cytotoxicity directed against tumor cell target | 1 | 267.5× | 0.023 | HLA-A |
| myeloid dendritic cell antigen processing and presentation | 1 | 267.5× | 0.023 | HLA-DRB1 |
| protein deglutamylation | 1 | 267.5× | 0.023 | AGBL4 |
| positive regulation of adiponectin secretion | 1 | 267.5× | 0.023 | PPARG |
Therapeutics
Drugs indicated or in trials for this disease
1 approved drug — disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
7 drugs in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 3 · Undrugged: 22
Druggability breadth: 12 of 25 evidence-associated genes (48%) 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 |
|---|
| ERN1 | FEDRATINIB |
| HLA-A | RALOXIFENE HYDROCHLORIDE |
| PPARG | METHYLENE BLUE ANHYDROUS |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| PPARG | 83 | 4 |
| ERN1 | 19 | 4 |
| HLA-A | 8 | 4 |
| ST6GAL1 | 0 | 0 |
| TPD52 | 0 | 0 |
| SLC38A1 | 0 | 0 |
| RNF24 | 0 | 0 |
| RIPOR2 | 0 | 0 |
| OR5H2 | 0 | 0 |
| PRND | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| PPARG | 2,033 | Binding:1593, Functional:380, ADMET:56, Toxicity:3, Unclassified:1 |
| ERN1 | 180 | Binding:180 |
| ST6GAL1 | 27 | Binding:27 |
| HLA-DRB1 | 17 | Binding:17 |
| HLA-A | 4 | Binding:4 |
| SLC38A1 | 2 | Binding:2 |
| HLA-DQA1 | 2 | Binding:2 |
| LRBA | 1 | Binding:1 |
| TMED7 | 1 | Binding:1 |
| AGBL4 | 1 | Binding:1 |
| HLA-B | 1 | Binding:1 |
| HLA-C | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| ST6GAL1 | 2.4.99.1 | beta-galactoside alpha-(2,6)-sialyltransferase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| ERN1 | 180 |
| PPARG | 2,033 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 25; with CPIC/DPWG dosing guidelines: 2.
Cohort genes with a CPIC/DPWG dosing guideline
| Symbol | CPIC guidelines |
|---|
| HLA-A | 1 |
| HLA-B | 1 |
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) |
|---|
| FEDRATINIB | 4 | ERN1 |
| LENVATINIB | 4 | ERN1 |
| RUXOLITINIB | 4 | ERN1 |
| DABRAFENIB | 4 | ERN1 |
| NINTEDANIB | 4 | ERN1, PPARG |
| SUNITINIB | 4 | ERN1 |
| MIDOSTAURIN | 4 | ERN1 |
| RALOXIFENE HYDROCHLORIDE | 4 | HLA-A |
| DOXAZOSIN MESYLATE | 4 | HLA-A |
| TRAZODONE HYDROCHLORIDE | 4 | HLA-A |
| ASTEMIZOLE | 4 | HLA-A |
| METHYLENE BLUE ANHYDROUS | 4 | PPARG |
| BENZBROMARONE | 4 | PPARG |
| BEXAROTENE | 4 | PPARG |
| PIOGLITAZONE HYDROCHLORIDE | 4 | PPARG |
| ROSIGLITAZONE MALEATE | 4 | PPARG |
| CANDESARTAN CILEXETIL | 4 | PPARG |
| TELMISARTAN | 4 | PPARG |
| RIMONABANT | 4 | PPARG |
| CEFAMANDOLE | 4 | PPARG |
| CLOBETASOL PROPIONATE | 4 | PPARG |
| ROSIGLITAZONE | 4 | PPARG |
| FULVESTRANT | 4 | PPARG |
| LIOTHYRONINE | 4 | PPARG |
| SULINDAC | 4 | PPARG |
| CEFTRIAXONE | 4 | PPARG |
| LEVOTHYROXINE | 4 | PPARG |
| CEFOTAXIME | 4 | PPARG |
| CANNABIDIOL | 4 | PPARG |
| TIPRANAVIR | 4 | PPARG |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 3 | ERN1, HLA-A, PPARG |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 7 | ST6GAL1, ASTN2, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1 |
| D | Druggable family + AlphaFold only, no drug | 2 | OR5H2, AGBL4 |
| E | Difficult family or no structure, no drug | 13 | TPD52, SLC38A1, RNF24, RIPOR2, PRND, NEBL, LRBA, SYT14, TMED7, CYCSP5 (+3 more) |
Undrugged target profiles
22 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|
| HLA-C | 1 | HLA-A |
| ST6GAL1 | 27 | — |
| TPD52 | 0 | — |
| SLC38A1 | 2 | — |
| RNF24 | 0 | — |
| RIPOR2 | 0 | — |
| OR5H2 | 0 | — |
| PRND | 0 | — |
| NEBL | 0 | — |
| ASTN2 | 0 | — |
| LRBA | 1 | — |
| SYT14 | 0 | — |
| TMED7 | 1 | — |
| CYCSP5 | 0 | — |
| MCTP2 | 0 | — |
| AGBL4 | 1 | — |
| ALG10B | 0 | — |
| HLA-B | 1 | — |
| HLA-DQA1 | 2 | — |
| HLA-DQB1 | 0 | — |
| HLA-DRB1 | 17 | — |
| IRF6 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 54.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 39 |
| PHASE4 | 4 |
| PHASE2/PHASE3 | 4 |
| PHASE2 | 3 |
| PHASE3 | 2 |
| PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT00405301 | PHASE4 | COMPLETED | Study of Safety and Efficacy of Different Regimes of Reintroduction of Anti-TB Drugs in Anti-TB Drugs Induced Liver Damage |
| NCT00616018 | PHASE4 | COMPLETED | Acetaminophen Adduct Formation in Non-Drinkers Taking Therapeutic Doses of Acetaminophen for Ten Consecutive Days |
| NCT04553003 | PHASE4 | UNKNOWN | Glucocorticosteroid Therapy on Drug-induced Liver Injury: a Prospective Non-randomized Concurrent Control Trial |
| NCT04595916 | PHASE4 | COMPLETED | Efficacy and Safety of Polyene Phosphatidylcholine in Treatment of Patients With Acute Drug-induced Liver Injury |
| NCT06797011 | PHASE2/PHASE3 | NOT_YET_RECRUITING | Efficacy of Plasmapheresis in Patients of Drug-Induced Liver Injury (DILI) With Underlying Chronic Liver Disease |
| NCT02182167 | PHASE2/PHASE3 | COMPLETED | A Trial Of Intravenous N-Acetylcysteine In The Management Of Antituberculous Drug-Induced Hepatitis |
| NCT03092817 | PHASE3 | COMPLETED | Adjunctive Corticosteroids for Tuberculous Meningitis in HIV-infected Adults (The ACT HIV Trial) |
| NCT03100786 | PHASE3 | COMPLETED | Leukotriene A4 Hydrolase Stratified Trial of Adjunctive Corticosteroids for HIV-uninfected Adults With Tuberculous Meningitis |
| NCT05144217 | PHASE2/PHASE3 | COMPLETED | Impact of Silymarin Dosages to Decrease Drug-induced Elevated Liver Enzymes Compared to Placebo |
| NCT05738681 | PHASE2/PHASE3 | UNKNOWN | Efficacy of N-acetylcysteine to Prevent Anti-tuberculosis Drug-induced Liver Injury: A Randomized Controlled Trial |
| NCT02734966 | PHASE2 | COMPLETED | Efficacy and Safety Study of Magnesium Isoglycyrrhizinate Injection in Subjects With Acute Drug-induced Liver Injury |
| NCT05517668 | PHASE2 | TERMINATED | Evaluation of the Efficacy of Fomepizole in the Treatment of Acetaminophen Overdose |
| NCT06019936 | PHASE2 | UNKNOWN | A Randomized,Double-blind, Placebo Controlled, Multicenter Study to Evaluate the Safety and Efficacy of MT2004 Capsule in DILI Subjects |
| NCT07058090 | PHASE1 | NOT_YET_RECRUITING | Comparison of the Outcome of Treatment With Silymarin or N-Aceylcysteine in Patients Taking Anti-Tuberculous Drugs for Tuberculosis at a Tertiary Care Hospital , Karachi |
| NCT06192589 | PHASE1 | COMPLETED | Clinical Study to Evaluate Cannabidiol Liver Enzyme Elevations and Drug Interactions |
| NCT00360646 | Not specified | RECRUITING | Drug-Induced Liver Injury (DILI) Network Retrospective |
| NCT02961413 | Not specified | RECRUITING | A Prospective Cohort Study on Drug-induced Liver Injury in China（DILI-P） |
| NCT04964310 | Not specified | RECRUITING | Screening of Susceptibility Genes for APAP Induced Drug Induced LIver Injury in ChiNese Population: a Case-control Study |
| NCT05060289 | Not specified | RECRUITING | A Prognostic Model for Drug-induced Liver Injury in China |
| NCT06446609 | Not specified | RECRUITING | Drug-induced Liver Injury: Itching Study |
| NCT06547229 | Not specified | ACTIVE_NOT_RECRUITING | Clinicopathological Features and Genetic Susceptibility Screening of Recurrent Drug-induced Liver Injury |
| NCT06771011 | Not specified | RECRUITING | Prospective Comparative Validation Study of RUCAM and RECAM |
| NCT06872372 | Not specified | ACTIVE_NOT_RECRUITING | Role of N-Acetylcysteine in Non-Acetaminophen-Induced Acute Liver Failure |
| NCT06922669 | Not specified | RECRUITING | Glucocorticoids for Acute Drug Induced Liver Injury With Hyperbilirubinemia |
| NCT07476885 | Not specified | NOT_YET_RECRUITING | A Real World Study of Polyene Phosphatidylcholine Injection for the Prevention and Treatment of DILI in Patients With Malignant Hematological Diseases |
| NCT01000766 | Not specified | COMPLETED | Identifying Changes in Blood (Potential Biomarkers) in Individuals With Drug-Induced Liver Injury |
| NCT01137591 | Not specified | WITHDRAWN | Acetaminophen in Combination With N-Acetylcysteine (NAC) Versus Placebo in Treating Fever |
| NCT01434173 | Not specified | COMPLETED | Risk of Acute Liver Injury in Users of Antimicrobials |
| NCT01584765 | Not specified | COMPLETED | Rechallenge, Potential Drug Induced Liver Injury (Kaiser) |
| NCT01705041 | Not specified | COMPLETED | Preliminary Evaluation of a Point-Of-Care Liver Function Test |
| NCT01747772 | Not specified | COMPLETED | Sonoelastography: Ultrasound Method to Measure Liver Fibrosis |
| NCT02061826 | Not specified | UNKNOWN | Establishment of Drug-induced Liver Injury Databases and Application of Circulating microRNA(miRNA) |
| NCT02086708 | Not specified | TERMINATED | Ultrasound Method to Measure Fibrosis of the Liver in Children |
| NCT02299739 | Not specified | COMPLETED | Liver Enzyme Abnormalities and Risk Factors in Taking Herbal Medicine |
| NCT02353455 | Not specified | UNKNOWN | Cells of Monocytic Origin as Surrogate Markers for Individual Drug Effects and Hepatotoxicity |
| NCT02407964 | Not specified | COMPLETED | A Retrospective Study on Drug Induced Liver Injury in China |
| NCT02686385 | Not specified | TERMINATED | Efficacy of N-acetylcysteine With or Without Steroids in Drug Induced Liver Injury |
| NCT03000621 | Not specified | UNKNOWN | Comparative Study of Circulating microRNA Changes in Patients With Liver Injury and Healthy Subjects |
| NCT03060252 | Not specified | UNKNOWN | Surveillance for Early Liver Injuries Caused by Zhuanggu Guanjie Pill |
| NCT03091218 | Not specified | UNKNOWN | Surveillance for Early Liver Injuries Caused by Runzao Zhiyang Capsule. |
Drugs tested across these trials (top 30)
- Cohort genes: ST6GAL1, TPD52, SLC38A1, RNF24, RIPOR2, OR5H2, PRND, NEBL, ASTN2, LRBA, SYT14, TMED7, MCTP2, AGBL4, ALG10B, ERN1, HLA-A, HLA-B, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DRB1, IRF6, PPARG
- Drugs: Acetaminophen, Cefuroxime, Ursodiol, Telithromycin, Tiopronin, Phosphatidylcholine, Silibinin, Silybin A, Ademetionine, Glutathione