Summary
Benign prostatic hyperplasia (MONDO:0010811) is a disease with 32 cohort genes (149 GWAS associations across 37 studies) and 549 clinical trials. Top therapeutic interventions include tamsulosin, alfuzosin, and solifenacin.
At a glance
- Cohort genes: 32
- GWAS associations: 149
- Clinical trials: 549
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|
| Canonical name | benign prostatic hyperplasia |
| Mondo ID | MONDO:0010811 |
| EFO | EFO:0000284 |
| MeSH | D011470 |
| OMIM | 600082 |
| DOID | DOID:11132 |
| ICD-10-CM | N40 |
| NCIT | C2897 |
| SNOMED CT | 266569009 |
| UMLS | C1704272 |
| MedGen | 312369 |
| Anatomy (UBERON) | UBERON:0002367 |
| Is cancer (heuristic) | no |
Also known as: benign hyperplasia of prostate · benign hyperplasia of the prostate · benign prostate hyperplasia · benign prostatic hyperplasia · benign prostatic hyperplasia (disease) · benign prostatic hyperplasia - BPH · benign prostatic Hypertrophy · benign prostatic hypertrophy · BPH · prostate hypertrophy · prostatic hyperplasia, benign · prostatic hypertrophy
Data availability: 149 GWAS associations (37 studies) · 1 HPO phenotype · 11 cell lines.
Disease family
Classification path: disease › human disease › disease by body system or component › reproductive system disorder › male reproductive system disorder › prostate disorder › benign prostatic hyperplasia
Related subtypes (4): prostatic cyst, prostate calculus, prostatitis, prostate neoplasm
Genetics & variants
GWAS landscape
149 GWAS associations across 37 studies. Top hits map to 9 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|
| chr10:123047691 | 6e-49 | | T | 0.08 |
| chr5:1344458 | 1e-47 | | G | 0.07 |
| chr10:123044831 | 2e-44 | | T | 0.1 |
| rs10886902 | 1e-43 | LINC01153 - RN7SKP167 | T | 0.09 |
| rs2447853 | 5e-42 | CLPTM1L | A | 0.06 |
| rs10886894 | 8e-39 | LINC01153 - RN7SKP167 | T | 0.1 |
| chr5:1322087 | 2e-38 | | C | 0.08 |
| rs11084596 | 4e-38 | LINC03103 - RNA5SP471 | T | 0.07 |
| rs414965 | 1e-32 | CLPTM1L | G | 0.08 |
| rs2556378 | 1e-28 | BCL11A | T | 0.07 |
| rs381949 | 2e-28 | CLPTM1L | G | 1.14 |
| rs971563 | 3e-28 | BCL11A | T | 0.1 |
| rs2556376 | 2e-26 | BCL11A | C | 0.09 |
| rs7124615 | 1e-24 | BET1L | T | 0.13 |
| rs492715 | 3e-24 | SIRT3 | G | 0.11 |
| rs148678804 | 1e-22 | DNAJC1 - ADIPOR1P1 | A | 1.34 |
| rs2853677 | 2e-22 | TERT | G | 1.12 |
| rs465498 | 4e-22 | CLPTM1L | A | 0.08 |
| rs11199879 | 4e-20 | LINC01153 - RN7SKP167 | C | 1.13 |
| chr10:123045212 | 8e-20 | | T | 0.09 |
| chr10:22312049 | 5e-19 | | G | 0.07 |
| chr5:134604215 | 2e-18 | | A | 0.08 |
| rs9958656 | 3e-18 | GATA6 - CTAGE1 | T | 1.11 |
| chr8:23460123 | 3e-18 | | A | 0.06 |
| rs200476 | 4e-17 | RSL24D1P1 - H4C10P | A | 1.14 |
| rs7898914 | 9e-17 | DNAJC1 - ADIPOR1P1 | A | 0.07 |
| rs4548546 | 2e-16 | WDR11 | T | 1.11 |
| chr6:135288716 | 2e-16 | | C | 0.05 |
| chr18:19911690 | 3e-16 | | G | 0.04 |
| chr13:51492374 | 8e-16 | | C | 0.07 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|
| GCST90476153 | Verma A | 2024 | 138,928 | 243,435 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475261 | Verma A | 2024 | 63,608 | 229,593 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90475262 | Verma A | 2024 | 34,268 | 258,933 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478611 | Verma A | 2024 | 30,813 | 64,576 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480406 | Verma A | 2024 | 30,813 | 64,576 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST007507 | Gudmundsson J | 2018 | 20,621 | 280,541 | Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. |
| GCST007512 | Gudmundsson J | 2018 | 18,138 | 277,213 | Genome-wide associations for benign prostatic hyperplasia reveal a genetic correlation with serum levels of PSA. |
| GCST90080617 | Backman JD | 2021 | 15,936 | 156,384 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084603 | Backman JD | 2021 | 15,936 | 156,384 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90652192 | Liu TY | 2025 | 15,878 | 84,916 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 50 |
MAF distribution
| Bucket | Variants |
|---|
| common (>=0.05) | 48 |
| low_freq (0.01-0.05) | 2 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|
| unknown | 20 |
| intergenic_variant | 15 |
| intron_variant | 15 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|
| chr10:123047691 | | | | 0.228 | | | 6e-49 | Tier 4: intronic/intergenic |
| chr5:1344458 | | | | 0.428 | | | 1e-47 | Tier 4: intronic/intergenic |
| chr10:123044831 | | | | 0.229 | | | 2e-44 | Tier 4: intronic/intergenic |
| rs10886902 | 10 | 121289750 | T>A,C,G | 0.198 | intergenic_variant | LINC01153 - RN7SKP167 | 1e-43 | Tier 4: intronic/intergenic |
| rs2447853 | 5 | 1332962 | A>C,G,T | 0.443 | intron_variant | CLPTM1L | 5e-42 | Tier 4: intronic/intergenic |
| rs10886894 | 10 | 121287359 | T>C | 0.207 | intergenic_variant | LINC01153 - RN7SKP167 | 8e-39 | Tier 4: intronic/intergenic |
| chr5:1322087 | | | | 0.44 | | | 2e-38 | Tier 4: intronic/intergenic |
| rs11084596 | 19 | 31614073 | T>C | 0.388 | intergenic_variant | LINC03103 - RNA5SP471 | 4e-38 | Tier 4: intronic/intergenic |
| rs414965 | 5 | 1324006 | G>A | 0.407 | intron_variant | CLPTM1L | 1e-32 | Tier 4: intronic/intergenic |
| rs2556378 | 2 | 60535367 | T>A,C,G | 0.161 | intron_variant | BCL11A | 1e-28 | Tier 4: intronic/intergenic |
| rs381949 | 5 | 1322353 | G>A | 0.415 | intron_variant | CLPTM1L | 2e-28 | Tier 4: intronic/intergenic |
| rs971563 | 2 | 60547638 | T>A,C | 0.18 | intron_variant | BCL11A | 3e-28 | Tier 4: intronic/intergenic |
| rs2556376 | 2 | 60532897 | C>A,G,T | 0.193 | intron_variant | BCL11A | 2e-26 | Tier 4: intronic/intergenic |
| rs7124615 | 11 | 186604 | T>A,C | 0.16 | intergenic_variant | BET1L | 1e-24 | Tier 4: intronic/intergenic |
| rs492715 | 11 | 232491 | G>T | 0.066 | intron_variant | SIRT3 | 3e-24 | Tier 4: intronic/intergenic |
| rs148678804 | 10 | 22138360 | G>A,T | 0.035 | intergenic_variant | DNAJC1 - ADIPOR1P1 | 1e-22 | Tier 4: intronic/intergenic |
| rs2853677 | 5 | 1287079 | G>A,C,T | 0.421 | intron_variant | TERT | 2e-22 | Tier 4: intronic/intergenic |
| rs465498 | 5 | 1325688 | A>C,G,T | 0.435 | intron_variant | CLPTM1L | 4e-22 | Tier 4: intronic/intergenic |
| rs11199879 | 10 | 121285698 | T>A,C | 0.252 | intergenic_variant | LINC01153 - RN7SKP167 | 4e-20 | Tier 4: intronic/intergenic |
| chr10:123045212 | | | | 0.23 | | | 8e-20 | Tier 4: intronic/intergenic |
| chr10:22312049 | | | | 0.262 | | | 5e-19 | Tier 4: intronic/intergenic |
| chr5:134604215 | | | | 0.123 | | | 2e-18 | Tier 4: intronic/intergenic |
| rs9958656 | 18 | 22324181 | T>A,C | 0.43 | intron_variant | GATA6 - CTAGE1 | 3e-18 | Tier 4: intronic/intergenic |
| chr8:23460123 | | | | 0.414 | | | 3e-18 | Tier 4: intronic/intergenic |
| rs200476 | 6 | 27800570 | A>T | 0.162 | intergenic_variant | RSL24D1P1 - H4C10P | 4e-17 | Tier 4: intronic/intergenic |
| rs7898914 | 10 | 22038392 | A>G | 0.23 | intergenic_variant | DNAJC1 - ADIPOR1P1 | 9e-17 | Tier 4: intronic/intergenic |
| rs4548546 | 10 | 120870067 | C>G,T | 0.31 | intron_variant | WDR11 | 2e-16 | Tier 4: intronic/intergenic |
| chr6:135288716 | | | | 0.363 | | | 2e-16 | Tier 4: intronic/intergenic |
| chr18:19911690 | | | | 0.445 | | | 3e-16 | Tier 4: intronic/intergenic |
| chr13:51492374 | | | | 0.073 | | | 8e-16 | Tier 4: intronic/intergenic |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 58 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|
| TBX3 | Orphanet:3138 | Ulnar-mammary syndrome |
| TBX5 | Orphanet:101016 | Romano-Ward syndrome |
| TBX5 | Orphanet:392 | Holt-Oram syndrome |
| HNF1B | Orphanet:1309 | Medullary sponge kidney |
| HNF1B | Orphanet:1331 | Familial prostate cancer |
| HNF1B | Orphanet:2578 | Mayer-Rokitansky-Küster-Hauser syndrome type 2 |
| HNF1B | Orphanet:261265 | 17q12 microdeletion syndrome |
| HNF1B | Orphanet:93111 | HNF1B-related autosomal dominant tubulointerstitial kidney disease |
| HNF1B | Orphanet:93172 | Renal dysplasia, unilateral |
| HNF1B | Orphanet:93173 | Renal dysplasia, bilateral |
| HNF1B | Orphanet:97363 | Unilateral multicystic dysplastic kidney |
| HNF1B | Orphanet:97364 | Bilateral multicystic dysplastic kidney |
| TERT | Orphanet:146 | Differentiated thyroid carcinoma |
| TERT | Orphanet:1501 | Adrenocortical carcinoma |
| TERT | Orphanet:1775 | Dyskeratosis congenita |
| TERT | Orphanet:2032 | Idiopathic pulmonary fibrosis |
| TERT | Orphanet:2495 | Meningioma |
| TERT | Orphanet:3322 | Hoyeraal-Hreidarsson syndrome |
| TERT | Orphanet:457246 | Clear cell sarcoma of kidney |
| TERT | Orphanet:618 | Familial melanoma |
| TERT | Orphanet:88 | Idiopathic aplastic anemia |
| BCL11A | Orphanet:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome |
| BCL11A | Orphanet:619233 | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome |
| PHIP | Orphanet:589905 | PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| GATA5 | Orphanet:3303 | Tetralogy of Fallot |
| GATA5 | Orphanet:334 | Hereditary atrial fibrillation |
| GATA5 | Orphanet:402075 | Familial bicuspid aortic valve |
| UNC13A | Orphanet:803 | Amyotrophic lateral sclerosis |
| RNASEH2B | Orphanet:51 | Aicardi-Goutières syndrome |
| RNASEH2B | Orphanet:689234 | RNASEH2B-related hereditary spastic paraplegia |
| DCC | Orphanet:238722 | Familial congenital mirror movements |
| DCC | Orphanet:2744 | Horizontal gaze palsy with progressive scoliosis |
| DCC | Orphanet:478 | Kallmann syndrome |
| FGFR2 | Orphanet:1540 | Jackson-Weiss syndrome |
| FGFR2 | Orphanet:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome |
| FGFR2 | Orphanet:168624 | Familial scaphocephaly syndrome, McGillivray type |
| FGFR2 | Orphanet:207 | Crouzon syndrome |
| FGFR2 | Orphanet:2363 | Lacrimoauriculodentodigital syndrome |
| FGFR2 | Orphanet:313855 | FGFR2-related bent bone dysplasia |
| FGFR2 | Orphanet:596008 | Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis |
| FGFR2 | Orphanet:794 | Saethre-Chotzen syndrome |
| FGFR2 | Orphanet:87 | Apert syndrome |
| FGFR2 | Orphanet:93258 | Pfeiffer syndrome type 1 |
| FGFR2 | Orphanet:93259 | Pfeiffer syndrome type 2 |
| FGFR2 | Orphanet:93260 | Pfeiffer syndrome type 3 |
| GATA3 | Orphanet:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
| GATA3 | Orphanet:585936 | B-lymphoblastic leukemia/lymphoma with hyperdiploidy |
| GATA6 | Orphanet:2140 | Congenital diaphragmatic hernia |
| GATA6 | Orphanet:2255 | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| GATA6 | Orphanet:3303 | Tetralogy of Fallot |
Cohort genes → proteins
32 cohort genes, 29 distinct canonical proteins.
Evidence partition
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|
| SYN3 | HGNC:11496 | ENSG00000185666 | O14994 | Synapsin-3 | gwas |
| TBX3 | HGNC:11602 | ENSG00000135111 | O15119 | T-box transcription factor TBX3 | gwas |
| TBX5 | HGNC:11604 | ENSG00000089225 | Q99593 | T-box transcription factor TBX5 | gwas |
| HNF1B | HGNC:11630 | ENSG00000275410 | P35680 | Hepatocyte nuclear factor 1-beta | gwas |
| TERT | HGNC:11730 | ENSG00000164362 | O14746 | Telomerase reverse transcriptase | gwas |
| UGCG | HGNC:12524 | ENSG00000148154 | Q16739 | Ceramide glucosyltransferase | gwas |
| BCL11A | HGNC:13221 | ENSG00000119866 | Q9H165 | BCL11 transcription factor A | gwas |
| DLEU1 | HGNC:13747 | ENSG00000176124 | O43261 | Leukemia-associated protein 1 | gwas |
| PHIP | HGNC:15673 | ENSG00000146247 | Q8WWQ0 | PH-interacting protein | gwas |
| GATA5 | HGNC:15802 | ENSG00000130700 | Q9BWX5 | Transcription factor GATA-5 | gwas |
| ELOVL6 | HGNC:15829 | ENSG00000170522 | Q9H5J4 | Very long chain fatty acid elongase 6 | gwas |
| BTBD3 | HGNC:15854 | ENSG00000132640 | Q9Y2F9 | BTB/POZ domain-containing protein 3 | gwas |
| SPTLC3 | HGNC:16253 | ENSG00000172296 | Q9NUV7 | Serine palmitoyltransferase 3 | gwas |
| SORCS1 | HGNC:16697 | ENSG00000108018 | Q8WY21 | VPS10 domain-containing receptor SorCS1 | gwas |
| STARD4 | HGNC:18058 | ENSG00000164211 | Q96DR4 | StAR-related lipid transfer protein 4 | gwas |
| CIMAP1A | HGNC:19905 | ENSG00000177947 | Q96PU9 | Ciliary microtubule associated protein 1A | gwas |
| DNAJC1 | HGNC:20090 | ENSG00000136770 | Q96KC8 | DnaJ homolog subfamily C member 1 | gwas |
| UNC13A | HGNC:23150 | ENSG00000130477 | Q9UPW8 | Protein unc-13 homolog A | gwas |
| CLPTM1L | HGNC:24308 | ENSG00000049656 | Q96KA5 | Lipid scramblase CLPTM1L | gwas |
| CTAGE1 | HGNC:24346 | ENSG00000212710 | Q96RT6 | cTAGE family member 2 | gwas |
| RNASEH2B | HGNC:25671 | ENSG00000136104 | Q5TBB1 | Ribonuclease H2 subunit B | gwas |
| DCC | HGNC:2701 | ENSG00000187323 | P43146 | Netrin receptor DCC | gwas |
| FGFR2 | HGNC:3689 | ENSG00000066468 | P21802 | Fibroblast growth factor receptor 2 | gwas |
| MIR3134 | HGNC:38254 | ENSG00000264354 | | microRNA 3134 | gwas |
| EBLN1 | HGNC:39430 | ENSG00000223601 | P0CF75 | Endogenous Bornavirus-like nucleoprotein 1 | gwas |
| GATA3 | HGNC:4172 | ENSG00000107485 | P23771 | Trans-acting T-cell-specific transcription factor GATA-3 | gwas |
| GATA6 | HGNC:4174 | ENSG00000141448 | Q92908 | Transcription factor GATA-6 | gwas |
| GCLC | HGNC:4311 | ENSG00000001084 | P48506 | Glutamate–cysteine ligase catalytic subunit | gwas |
| MACROH2A1 | HGNC:4740 | ENSG00000113648 | O75367 | Core histone macro-H2A.1 | gwas |
| H2BC13 | HGNC:4748 | ENSG00000185130 | Q99880 | Histone H2B type 1-L | gwas |
| LINC03103 | HGNC:48330 | ENSG00000267465 | | long intergenic non-protein coding RNA 3103 | gwas |
| PITX1-AS1 | HGNC:48332 | ENSG00000224186 | | PITX1 antisense RNA 1 | gwas |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|
| SYN3 | Synapsin-3 | May be involved in the regulation of neurotransmitter release and synaptogenesis. |
| TBX3 | T-box transcription factor TBX3 | Transcriptional repressor involved in developmental processes. |
| TBX5 | T-box transcription factor TBX5 | DNA-binding protein that regulates the transcription of several genes and is involved in heart development and limb pattern formation. |
| HNF1B | Hepatocyte nuclear factor 1-beta | Transcription factor that binds to the inverted palindrome 5’-GTTAATNATTAAC-3'. |
| TERT | Telomerase reverse transcriptase | Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. |
| UGCG | Ceramide glucosyltransferase | Participates in the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway at the cytosolic surface of the Golgi. |
| BCL11A | BCL11 transcription factor A | Transcription factor. |
| DLEU1 | Leukemia-associated protein 1 | May act as a tumor suppressor. |
| PHIP | PH-interacting protein | Probable regulator of the insulin and insulin-like growth factor signaling pathways. |
| GATA5 | Transcription factor GATA-5 | Transcription factor required during cardiovascular development. |
| ELOVL6 | Very long chain fatty acid elongase 6 | Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. |
| BTBD3 | BTB/POZ domain-containing protein 3 | Acts as a key regulator of dendritic field orientation during development of sensory cortex. |
| SPTLC3 | Serine palmitoyltransferase 3 | Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-… |
| STARD4 | StAR-related lipid transfer protein 4 | Involved in the intracellular transport of cholesterol. |
| CIMAP1A | Ciliary microtubule associated protein 1A | Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. |
| DNAJC1 | DnaJ homolog subfamily C member 1 | May modulate protein synthesis. |
| UNC13A | Protein unc-13 homolog A | Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. |
| CLPTM1L | Lipid scramblase CLPTM1L | Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn-glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to th… |
| RNASEH2B | Ribonuclease H2 subunit B | Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. |
| DCC | Netrin receptor DCC | Receptor for netrin required for axon guidance. |
| FGFR2 | Fibroblast growth factor receptor 2 | Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic de… |
| EBLN1 | Endogenous Bornavirus-like nucleoprotein 1 | May act as an RNA-binding protein. |
| GATA3 | Trans-acting T-cell-specific transcription factor GATA-3 | Transcriptional activator which binds to the enhancer of the T-cell receptor alpha and delta genes. |
| GATA6 | Transcription factor GATA-6 | Transcriptional activator. |
| GCLC | Glutamate–cysteine ligase catalytic subunit | Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis. |
| MACROH2A1 | Core histone macro-H2A.1 | Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. |
| H2BC13 | Histone H2B type 1-L | Core component of nucleosome. |
Protein-family classification
Druggable: 8 · Difficult: 9 · Unknown: 15 · Druggable fraction: 0.25
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 |
|---|
| Transcription factor | 8 | 2.1× | 0.200 |
| Enzyme (other) | 5 | 1.9× | 0.371 |
| Antibody/Immunoglobulin | 2 | 1.8× | 0.600 |
| Kinase | 1 | 0.9× | 0.884 |
| Other/Unknown | 15 | 0.8× | 0.884 |
| Scaffold/PPI | 1 | 0.5× | 0.884 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|
| SYN3 | Other/Unknown | no | | Synapsin, ATP_grasp_subdomain_1, PreATP-grasp_dom_sf |
| TBX3 | Transcription factor | no | | TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS |
| TBX5 | Transcription factor | no | | TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS |
| HNF1B | Transcription factor | no | | HD, HNF1b_C, HNF-1_N |
| TERT | Other/Unknown | no | | RT_dom, Telomerase_RT, Telomerase_RBD |
| UGCG | Enzyme (other) | yes | 2.4.1.80 | Ceramide_glucosylTrfase, Nucleotide-diphossugar_trans |
| BCL11A | Transcription factor | no | | Znf_C2H2_type, Znf_C2H2_sf, Dev/Hematopoietic_TF |
| DLEU1 | Other/Unknown | no | | |
| PHIP | Scaffold/PPI | no | | Bromodomain, WD40_rpt, WD40/YVTN_repeat-like_dom_sf |
| GATA5 | Transcription factor | no | | Znf_GATA, GATA_N, Znf_NHR/GATA |
| ELOVL6 | Enzyme (other) | yes | 2.3.1.16 | ELO_fam, ELO_CS, ELOVL6 |
| BTBD3 | Other/Unknown | no | | BTB/POZ_dom, SKP1/BTB/POZ_sf, BACK |
| SPTLC3 | Enzyme (other) | yes | 2.3.1.50 | Aminotrans_II_pyridoxalP_BS, Aminotransferase_I/II_large, PyrdxlP-dep_Trfase_major |
| SORCS1 | Antibody/Immunoglobulin | yes | | PKD_dom, VPS10, Ig-like_fold |
| STARD4 | Other/Unknown | no | | START_lipid-bd_dom, START-like_dom_sf, StarD4 |
| CIMAP1A | Other/Unknown | no | | SHIPPO-rpt, CIMAP |
| DNAJC1 | Transcription factor | no | | SANT/Myb, DnaJ_domain, Homeodomain-like_sf |
| UNC13A | Other/Unknown | no | | C2_dom, PKC_DAG/PE, MUN_dom |
| CLPTM1L | Other/Unknown | no | | CLPTM1 |
| CTAGE1 | Other/Unknown | no | | cTAGE_MIA/OTOR |
| RNASEH2B | Enzyme (other) | yes | 3.1.26.4 | RNase_H2_suB_wHTH, RNase_H2_suB, Rnh202_N |
| DCC | Antibody/Immunoglobulin | yes | | Ig_sub2, Ig_sub, FN3_dom |
| FGFR2 | Kinase | yes | 2.7.10.1 | Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom, Ig_sub2 |
| MIR3134 | Other/Unknown | no | | |
| EBLN1 | Other/Unknown | no | | P40_nucleoprot_BD-vir, P40_nucleoprot_sub1_BD-vir, P40_nucleoprot_sub2_BD-vir |
| GATA3 | Transcription factor | no | | Znf_GATA, Znf_NHR/GATA, TF_GATA-2/3 |
| GATA6 | Transcription factor | no | | Znf_GATA, GATA_N, Znf_NHR/GATA |
| GCLC | Enzyme (other) | yes | 6.3.2.2 | GCS, Gln_synth/guanido_kin_cat_dom |
| MACROH2A1 | Other/Unknown | no | | Histone_H2A, Macro_dom, H2A/H2B/H3 |
| H2BC13 | Other/Unknown | no | | Histone_H2B, H2A/H2B/H3, Histone-fold |
| LINC03103 | Other/Unknown | no | | |
| PITX1-AS1 | Other/Unknown | no | | |
Expression context
Cohort genes with no expression data: 0.
23 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) | 2 |
| broad (>20) | 30 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|
| adrenal tissue | 5 |
| cortical plate | 4 |
| right testis | 4 |
| primordial germ cell in gonad | 3 |
| buccal mucosa cell | 3 |
| bronchial epithelial cell | 3 |
| male germ line stem cell (sensu Vertebrata) in testis | 3 |
| ileal mucosa | 3 |
| jejunal mucosa | 3 |
| left testis | 3 |
| primary visual cortex | 2 |
| upper leg skin | 2 |
| ganglionic eminence | 2 |
| ventricular zone | 2 |
| kidney epithelium | 2 |
| adrenal cortex | 1 |
| right adrenal gland | 1 |
| right adrenal gland cortex | 1 |
| cardiac muscle of right atrium | 1 |
| tendon of biceps brachii | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|
| SYN3 | 176 | broad | marker | primordial germ cell in gonad, cortical plate, primary visual cortex |
| TBX3 | 243 | ubiquitous | marker | right adrenal gland cortex, right adrenal gland, adrenal cortex |
| TBX5 | 129 | broad | marker | tendon of biceps brachii, cardiac muscle of right atrium, buccal mucosa cell |
| HNF1B | 74 | broad | marker | metanephros cortex, adult mammalian kidney, kidney |
| TERT | 105 | broad | yes | stromal cell of endometrium, type B pancreatic cell, olfactory bulb |
| UGCG | 274 | ubiquitous | marker | upper leg skin, bronchial epithelial cell, adrenal tissue |
| BCL11A | 247 | ubiquitous | marker | cortical plate, ganglionic eminence, primary visual cortex |
| DLEU1 | 162 | ubiquitous | marker | primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans |
| PHIP | 302 | ubiquitous | marker | bronchial epithelial cell, epithelium of bronchus, ventricular zone |
| GATA5 | 106 | broad | yes | ileal mucosa, left uterine tube, jejunal mucosa |
| ELOVL6 | 255 | ubiquitous | marker | right lobe of liver, endothelial cell, esophagus squamous epithelium |
| BTBD3 | 298 | ubiquitous | marker | cerebellar vermis, adrenal tissue, paraflocculus |
| SPTLC3 | 228 | ubiquitous | marker | buccal mucosa cell, placenta, skin of abdomen |
| SORCS1 | 188 | broad | marker | cortical plate, sural nerve, trigeminal ganglion |
| STARD4 | 221 | ubiquitous | marker | adrenal tissue, ileal mucosa, jejunal mucosa |
| CIMAP1A | 28 | | yes | left ventricle myocardium, kidney epithelium, epithelial cell of pancreas |
| DNAJC1 | 278 | ubiquitous | marker | secondary oocyte, pylorus, cardia of stomach |
| UNC13A | 193 | broad | marker | right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex |
| CLPTM1L | 255 | ubiquitous | marker | ileal mucosa, kidney epithelium, right lobe of thyroid gland |
| CTAGE1 | 13 | tissue_specific | yes | right testis, left testis, testis |
| RNASEH2B | 242 | ubiquitous | marker | calcaneal tendon, ganglionic eminence, ventricular zone |
| DCC | 154 | broad | marker | cortical plate, right testis, left testis |
| FGFR2 | 272 | broad | marker | C1 segment of cervical spinal cord, spinal cord, corpus callosum |
| MIR3134 | 66 | | yes | adrenal tissue, blood, putamen |
| EBLN1 | 7 | | yes | primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, right testis |
| GATA3 | 220 | broad | marker | upper leg skin, skin of hip, endometrium epithelium |
| GATA6 | 204 | ubiquitous | marker | germinal epithelium of ovary, parietal pleura, jejunal mucosa |
| GCLC | 291 | ubiquitous | marker | bronchial epithelial cell, right uterine tube, olfactory segment of nasal mucosa |
| MACROH2A1 | 302 | ubiquitous | marker | epithelium of nasopharynx, tongue squamous epithelium, monocyte |
| H2BC13 | 130 | ubiquitous | yes | bone marrow cell, adrenal tissue, male germ line stem cell (sensu Vertebrata) in testis |
Protein interactions among cohort
Intra-cohort edges: 5.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|
| GATA3 | 5,990 |
| TERT | 5,717 |
| PHIP | 3,057 |
| MACROH2A1 | 3,047 |
| H2BC13 | 2,784 |
| GATA5 | 2,434 |
| BCL11A | 2,389 |
| TBX3 | 2,379 |
| DNAJC1 | 2,375 |
| TBX5 | 2,250 |
Intra-cohort edges
| A | B | Sources |
|---|
| BCL11A | FGFR2 | intact |
| CLPTM1L | TERT | string_interaction |
| GATA5 | TBX5 | string_interaction |
| SPTLC3 | UGCG | string_interaction |
| TBX3 | TBX5 | string_interaction |
Structural data
PDB: 14 · AlphaFold-only: 15 · No structure: 3
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|
| PHIP | Q8WWQ0 | 146 |
| FGFR2 | P21802 | 63 |
| TERT | O14746 | 23 |
| BCL11A | Q9H165 | 17 |
| MACROH2A1 | O75367 | 13 |
| DCC | P43146 | 9 |
| TBX5 | Q99593 | 4 |
| RNASEH2B | Q5TBB1 | 4 |
| HNF1B | P35680 | 3 |
| GATA3 | P23771 | 3 |
| STARD4 | Q96DR4 | 2 |
| DNAJC1 | Q96KC8 | 2 |
| SYN3 | O14994 | 1 |
| TBX3 | O15119 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|
| GCLC | P48506 | 93.68 |
| UGCG | Q16739 | 93.29 |
| ELOVL6 | Q9H5J4 | 92.40 |
| H2BC13 | Q99880 | 87.45 |
| SPTLC3 | Q9NUV7 | 87.25 |
| EBLN1 | P0CF75 | 84.45 |
| BTBD3 | Q9Y2F9 | 83.60 |
| CLPTM1L | Q96KA5 | 78.54 |
| SORCS1 | Q8WY21 | 77.77 |
| CIMAP1A | Q96PU9 | 74.04 |
| UNC13A | Q9UPW8 | 73.58 |
| CTAGE1 | Q96RT6 | 70.45 |
| GATA5 | Q9BWX5 | 59.91 |
| DLEU1 | O43261 | 55.08 |
| GATA6 | Q92908 | 53.48 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 145. Enrichment computed across 32 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 |
|---|
| Signaling by FGFR2 amplification mutants | 1 | 634.4× | 0.057 | FGFR2 |
| Signaling by FGFR2 fusions | 1 | 634.4× | 0.057 | FGFR2 |
| Developmental Lineage of Multipotent Pancreatic Progenitor Cells | 2 | 66.8× | 0.057 | HNF1B, GATA6 |
| Cardiogenesis | 2 | 47.0× | 0.057 | TBX5, GATA6 |
| Factors involved in megakaryocyte development and platelet production | 3 | 11.1× | 0.067 | GATA5, GATA3, GATA6 |
| Defective GCLC causes HAGGSD | 1 | 317.2× | 0.076 | GCLC |
| Sphingolipid metabolism | 2 | 18.7× | 0.104 | UGCG, SPTLC3 |
| DSCAM interactions | 1 | 126.9× | 0.107 | DCC |
| Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence | 1 | 90.6× | 0.107 | TERT |
| Regulation of gene expression in early pancreatic precursor cells | 1 | 79.3× | 0.107 | HNF1B |
| Netrin mediated repulsion signals | 1 | 70.5× | 0.107 | DCC |
| FGFR2b ligand binding and activation | 1 | 63.4× | 0.107 | FGFR2 |
| POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation | 1 | 63.4× | 0.107 | GATA6 |
| Caspase activation via Dependence Receptors in the absence of ligand | 1 | 63.4× | 0.107 | DCC |
| Role of second messengers in netrin-1 signaling | 1 | 57.7× | 0.107 | DCC |
| Glutathione synthesis and recycling | 1 | 52.9× | 0.107 | GCLC |
| Regulation of commissural axon pathfinding by SLIT and ROBO | 1 | 52.9× | 0.107 | DCC |
| ALK mutants bind TKIs | 1 | 52.9× | 0.107 | BCL11A |
| FGFR2c ligand binding and activation | 1 | 48.8× | 0.107 | FGFR2 |
| Nephron development | 1 | 48.8× | 0.107 | HNF1B |
| Pregnenolone biosynthesis | 1 | 45.3× | 0.107 | STARD4 |
| YAP1- and WWTR1 (TAZ)-stimulated gene expression | 1 | 42.3× | 0.107 | TBX5 |
| Developmental Lineage of Mammary Stem Cells | 1 | 42.3× | 0.107 | GATA3 |
| Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | 1 | 39.6× | 0.107 | HNF1B |
| DCC mediated attractive signaling | 1 | 39.6× | 0.107 | DCC |
| Formation of definitive endoderm | 1 | 39.6× | 0.107 | GATA6 |
| Activated point mutants of FGFR2 | 1 | 37.3× | 0.107 | FGFR2 |
| Physiological factors | 1 | 37.3× | 0.107 | TBX5 |
| Serotonin Neurotransmitter Release Cycle | 1 | 35.2× | 0.107 | SYN3 |
| Phospholipase C-mediated cascade; FGFR2 | 1 | 35.2× | 0.107 | FGFR2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 27 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|
| hepatoblast differentiation | 2 | 624.1× | 6e-04 | TBX3, HNF1B |
| cell fate commitment | 4 | 43.8× | 6e-04 | GATA5, FGFR2, GATA3, GATA6 |
| atrioventricular bundle cell differentiation | 2 | 416.1× | 0.001 | TBX3, TBX5 |
| positive regulation of cardiac muscle cell proliferation | 3 | 69.3× | 0.001 | TBX5, FGFR2, GATA6 |
| cellular response to BMP stimulus | 3 | 62.4× | 0.001 | GATA5, GATA3, GATA6 |
| in utero embryonic development | 5 | 13.3× | 0.003 | TBX3, RNASEH2B, FGFR2, GATA3, GATA6 |
| sinoatrial node development | 2 | 156.0× | 0.004 | TBX5, GATA6 |
| forelimb morphogenesis | 2 | 156.0× | 0.004 | TBX3, TBX5 |
| negative regulation of dendrite development | 2 | 156.0× | 0.004 | BCL11A, DCC |
| negative regulation of transcription by RNA polymerase II | 8 | 5.2× | 0.004 | TBX3, HNF1B, BCL11A, GATA5, FGFR2, GATA3, GATA6, MACROH2A1 |
| atrioventricular canal development | 2 | 113.5× | 0.005 | TBX3, GATA6 |
| negative regulation of collateral sprouting | 2 | 113.5× | 0.005 | BCL11A, DCC |
| intestinal epithelial cell differentiation | 2 | 113.5× | 0.005 | GATA5, GATA6 |
| positive regulation of transcription by RNA polymerase II | 8 | 4.4× | 0.010 | TBX3, TBX5, BCL11A, PHIP, GATA5, FGFR2, GATA3, GATA6 |
| embryonic digestive tract morphogenesis | 2 | 69.3× | 0.012 | HNF1B, FGFR2 |
| smooth muscle cell differentiation | 2 | 65.7× | 0.013 | TBX3, GATA6 |
| RNA-templated transcription | 1 | 624.1× | 0.013 | TERT |
| type IV hypersensitivity | 1 | 624.1× | 0.013 | GATA3 |
| ribonucleotide metabolic process | 1 | 624.1× | 0.013 | RNASEH2B |
| cholesterol transport involved in cholesterol storage | 1 | 624.1× | 0.013 | STARD4 |
| DNA strand elongation | 1 | 624.1× | 0.013 | TERT |
| negative regulation of transforming growth factor beta2 production | 1 | 624.1× | 0.013 | GATA6 |
| tube morphogenesis | 1 | 624.1× | 0.013 | GATA6 |
| regulation of pronephros size | 1 | 624.1× | 0.013 | HNF1B |
| fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell | 1 | 624.1× | 0.013 | FGFR2 |
| fibroblast growth factor receptor signaling pathway involved in hemopoiesis | 1 | 624.1× | 0.013 | FGFR2 |
| fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow | 1 | 624.1× | 0.013 | FGFR2 |
| pronephric nephron tubule development | 1 | 624.1× | 0.013 | HNF1B |
| sphingoid biosynthetic process | 1 | 624.1× | 0.013 | SPTLC3 |
| mesoderm morphogenesis | 1 | 624.1× | 0.013 | TBX3 |
Therapeutics
Drugs indicated for this disease
7 approved, 7 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Adalimumab, Celecoxib, Degarelix, Epigalocatechin Gallate, Etonogestrel, Lycopene, Onabotulinumtoxina, Ozarelix, Paclitaxel, Sildenafil, Sodium Chloride, Tertomotide, Vardenafil.
Drug target analysis
Approved (phase 4): 3 · Phase ≥3: 3 · Phased (≥1): 4 · Undrugged: 28
Druggability breadth: 10 of 32 evidence-associated genes (31%) 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 |
|---|
| TERT | BERBERINE |
| UGCG | MIGLUSTAT |
| FGFR2 | PONATINIB |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|
| FGFR2 | 59 | 4 |
| TERT | 10 | 4 |
| UGCG | 5 | 4 |
| GCLC | 1 | 1 |
| SYN3 | 0 | 0 |
| TBX3 | 0 | 0 |
| TBX5 | 0 | 0 |
| HNF1B | 0 | 0 |
| BCL11A | 0 | 0 |
| DLEU1 | 0 | 0 |
Drugs targeting cohort genes (top 30)
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 6.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|
| FGFR2 | 966 | Binding:940, Functional:22, ADMET:4 |
| TERT | 391 | Binding:389, Functional:2 |
| UGCG | 44 | Binding:41, Functional:3 |
| PHIP | 17 | Binding:17 |
| GCLC | 14 | Binding:14 |
| ELOVL6 | 10 | Binding:10 |
| TBX5 | 1 | Binding:1 |
| SPTLC3 | 1 | Binding:1 |
| CLPTM1L | 1 | Binding:1 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|
| UGCG | 2.4.1.80 | ceramide glucosyltransferase |
| ELOVL6 | 2.3.1.16, 2.3.1.199 | acetyl-CoA C-acyltransferase, very-long-chain 3-oxoacyl-CoA synthase |
| SPTLC3 | 2.3.1.50 | serine C-palmitoyltransferase |
| RNASEH2B | 3.1.26.4 | ribonuclease H |
| FGFR2 | 2.7.10.1 | receptor protein-tyrosine kinase |
| GCLC | 6.3.2.2 | glutamate-cysteine ligase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|
| TERT | 391 |
| FGFR2 | 966 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 30; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
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) |
|---|
| BERBERINE | 4 | TERT |
| DOXORUBICIN | 4 | TERT |
| MIGLUSTAT | 4 | UGCG |
| ELIGLUSTAT | 4 | UGCG |
| PONATINIB | 4 | FGFR2 |
| PEMIGATINIB | 4 | FGFR2 |
| NINTEDANIB | 4 | FGFR2 |
| FEDRATINIB | 4 | FGFR2 |
| LENVATINIB | 4 | FGFR2 |
| AXITINIB | 4 | FGFR2 |
| SORAFENIB | 4 | FGFR2 |
| INFIGRATINIB PHOSPHATE | 4 | FGFR2 |
| INFIGRATINIB | 4 | FGFR2 |
| IBRUTINIB | 4 | FGFR2 |
| CERITINIB | 4 | FGFR2 |
| VANDETANIB | 4 | FGFR2 |
| NINTEDANIB ESYLATE | 4 | FGFR2 |
| BRIGATINIB | 4 | FGFR2 |
| ERDAFITINIB | 4 | FGFR2 |
| FUTIBATINIB | 4 | FGFR2 |
| PAZOPANIB | 4 | FGFR2 |
| SUNITINIB | 4 | FGFR2 |
| DASATINIB | 4 | FGFR2 |
| ERLOTINIB | 4 | FGFR2 |
| MIDOSTAURIN | 4 | FGFR2 |
| RESVERATROL | 3 | TERT |
| EPIGALOCATECHIN GALLATE | 3 | TERT |
| PERIFOSINE | 3 | TERT |
| LUCERASTAT | 3 | UGCG |
| VENGLUSTAT | 3 | UGCG |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|
| A | Approved (phase 4 drug) | 3 | TERT, UGCG, FGFR2 |
| B | Phased (≥1) drug, not yet approved | 1 | GCLC |
| C | Druggable family + PDB, no drug | 2 | RNASEH2B, DCC |
| D | Druggable family + AlphaFold only, no drug | 3 | ELOVL6, SPTLC3, SORCS1 |
| E | Difficult family or no structure, no drug | 23 | SYN3, TBX3, TBX5, HNF1B, BCL11A, DLEU1, PHIP, GATA5, BTBD3, STARD4 (+13 more) |
Undrugged target profiles
28 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|
| CLPTM1L | 1 | TERT |
| SYN3 | 0 | — |
| TBX3 | 0 | — |
| TBX5 | 1 | — |
| HNF1B | 0 | — |
| BCL11A | 0 | — |
| DLEU1 | 0 | — |
| PHIP | 17 | — |
| GATA5 | 0 | — |
| ELOVL6 | 10 | — |
| BTBD3 | 0 | — |
| SPTLC3 | 1 | — |
| SORCS1 | 0 | — |
| STARD4 | 0 | — |
| CIMAP1A | 0 | — |
| DNAJC1 | 0 | — |
| UNC13A | 0 | — |
| CTAGE1 | 0 | — |
| RNASEH2B | 0 | — |
| DCC | 0 | — |
| MIR3134 | 0 | — |
| EBLN1 | 0 | — |
| GATA3 | 0 | — |
| GATA6 | 0 | — |
| MACROH2A1 | 0 | — |
| H2BC13 | 0 | — |
| LINC03103 | 0 | — |
| PITX1-AS1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 549.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|
| Not specified | 333 |
| PHASE4 | 65 |
| PHASE3 | 61 |
| PHASE2 | 42 |
| PHASE1 | 26 |
| PHASE1/PHASE2 | 10 |
| PHASE2/PHASE3 | 7 |
| EARLY_PHASE1 | 5 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|
| NCT06710327 | PHASE4 | NOT_YET_RECRUITING | Effect of Tranexamic Acid on Intraoperative Blood Loss in Patients Undergoing Aquablation |
| NCT07204002 | PHASE4 | NOT_YET_RECRUITING | Comparison of Convective Water Vapor Ablation (Convective Water Vapor Energy, WAVE™) With the Rezum™ System Versus Holmium Laser Enucleation of the Prostate (HoLEP) Versus Bipolar Transurethral Resection of the Prostate (TUR-P) in Patients With Benign Prostatic Syndrome (BPS) - A Randomized Study |
| NCT07357324 | PHASE4 | RECRUITING | A Clinical Observation Study of a Chinese Patent Medicine Combined With Tamsulosin in Improving Sleep and Nocturia Symptoms After Enucleation of the Prostate |
| NCT07460518 | PHASE4 | NOT_YET_RECRUITING | Tranexamic Acid for Bleeding Reduction During TURP Surgery |
| NCT07467343 | PHASE4 | NOT_YET_RECRUITING | Silodosin vs Tamsulosin for LUTS Due to BPH: A Randomized Crossover Trial |
| NCT00130767 | PHASE4 | UNKNOWN | Kinetics of the Finasteride Prostate Induced Apoptosis |
| NCT00194675 | PHASE4 | COMPLETED | TRADE-Testosterone Replacement and Dutasteride Effectiveness |
| NCT00199550 | PHASE4 | COMPLETED | Bipolar vs Monopolar Transurethral Resection of the Prostate (TURP) |
| NCT00364585 | PHASE4 | COMPLETED | A Prospective Evaluation of the GreenLight Model 120 Laser |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00379067 | PHASE4 | COMPLETED | A Phase 4 Study With Tamsulosin OCAS to Assess Nighttime Voiding. |
| NCT00421421 | PHASE4 | TERMINATED | Effects Of Dutasteride On Risk Reduction Of Acute Urinary Retention Relapse Following Trial Without Catheter |
| NCT00465101 | PHASE4 | COMPLETED | A Long-Term Study Examining the Treatment of Benign Prostatic Hyperplasia With Photoselective Vaporization |
| NCT00542165 | PHASE4 | COMPLETED | Multicenter Prospective Study on the Changes of Sexual Function Following Treatment With Alfuzosin (Xatral XL®) in Patients With Benign Prostate Hypertrophy |
| NCT00637715 | PHASE4 | COMPLETED | Once Daily Given Alfuzosin in the Treatment of BPH |
| NCT00687388 | PHASE4 | WITHDRAWN | The Clinical Efficacy of Non-steroidal Anti-inflammation Drugs in Patients With Benign Prostatic Hyperplasia |
| NCT00690950 | PHASE4 | UNKNOWN | A Study to Determine the Improvement of the Symptoms of Benign Prostatic Hyperplasia (BPH) When Switching Subjects From Proscar to Avodart |
| NCT00696761 | PHASE4 | COMPLETED | The Long Term Effects of Alfuzosin(Xatral XL) in Lower Urinary Tract Symptoms(LUTS)/BPH Patients |
| NCT00701779 | PHASE4 | COMPLETED | Dutasteride and Flex Dose of Tamsulosin on as Needed Basis, to Treat Benign Prostatic Hyperplasia |
| NCT00771394 | PHASE4 | COMPLETED | Solifenacin as Add-on Therapy for Overactive Bladder Symptoms in Men Treated for Benign Prostatic Hyperplasia |
| NCT00827814 | PHASE4 | COMPLETED | Effect of Dutasteride on Bladder Wall Hypertrophy in Patients With Benign Prostatic Obstruction |
| NCT00836823 | PHASE4 | COMPLETED | Evaluation of Symptom-specific Goal Achievement |
| NCT00880672 | PHASE4 | COMPLETED | Effect of Dutasteride on HIF-1alpha and VEGF in the Prostate |
| NCT00922506 | PHASE4 | COMPLETED | Combination Treatment With Doxazosin Plus TolterodineSR 2 mg Versus 4mg in Men With an Overactive Bladder (OAB) and Benign Prostatic Hyperplasia (BPH) |
| NCT00939120 | PHASE4 | COMPLETED | Dutasteride With Tolterodine ER or Placebo to Treat Lower Urinary Tract Symptoms (LUTS) |
| NCT01259531 | PHASE4 | COMPLETED | Study of a α1A Adrenoceptor Selective Antagonist Silodosin to Treat Severe Benign Prostatic Hyperplasia(BPH) |
| NCT01260129 | PHASE4 | COMPLETED | Safety and Efficacy of QD Versus BID Silodosin With Lower Urinary Tract Symptoms Suggestive of BPH |
| NCT01301599 | PHASE4 | COMPLETED | Comparison Between Alpha Blocker Monotherapy and 5ARI Monotherapy Following Combination Therapy in Benign Prostatic Hyperplasia (BPH) |
| NCT01494337 | PHASE4 | COMPLETED | Holmium Laser Enucleation of Prostate(HOLEP) vs Greenlight(XPS) Laser Photoselective Vapo-Enucleation of Prostate(PVEP) |
| NCT01500057 | PHASE4 | COMPLETED | Phase 4 Study of Greenlight XPS Laser Versus BiVAP Saline Vaporization of the Prostate in Men With Symptomatic Benign Prostatic Hyperplasia |
| NCT01604811 | PHASE4 | COMPLETED | Exploratory Study of L.S.E.S.r. (LipidoSterolic Extract of Serenoa Repens)(PERMIXON® 160 mg Hard Capsule) Versus Tamsulosine LP Activity on Inflammation Biomarkers in Urinary Symptoms Related to BPH (Benign Prostatic Hyperplasia) |
| NCT01631149 | PHASE4 | COMPLETED | Effect of Deep BLock on Intraoperative Surgical Conditions |
| NCT01675895 | PHASE4 | COMPLETED | Addition of Lidocaine to Levobupivacaine Reduces Intrathecal Block Duration |
| NCT01736033 | PHASE4 | UNKNOWN | Advanced Benefits of Alpha-blocker Monotherapy on Lower Urinary Tracts Symptoms(LUTS) Patients |
| NCT01747577 | PHASE4 | COMPLETED | Post Marketing Study to Evaluate the Efficacy and Safety of Solifenacin in Patients With OAB (Overactive Bladder) After TURP (Trans-urethral Resection of Prostate) or PVP (Photoselective Vaporization of Prostate) |
| NCT01757769 | PHASE4 | COMPLETED | Effectiveness and Safety of Silodosin in the Treatment of Benign Prostatic Hyperplasia |
| NCT01861041 | PHASE4 | UNKNOWN | Low Dose Bupivacaine Spinal for Trans Uretral Prostatectomy. |
| NCT02006303 | PHASE4 | UNKNOWN | Prostatic Artery Embolization Versus 532 nm Green Light PVP for Catheterized Patients |
| NCT02021032 | PHASE4 | UNKNOWN | Post-Marketing Study Using PROLIEVE® for the Treatment of Benign Prostatic Hyperplasia (BPH) |
| NCT02072499 | PHASE4 | COMPLETED | KTP Green Light Prostatectomy Compared With Open Prostatectomy |
Drugs tested across these trials (top 30)
- Cohort genes: SYN3, TBX3, TBX5, HNF1B, TERT, UGCG, BCL11A, DLEU1, PHIP, GATA5, ELOVL6, BTBD3, SPTLC3, SORCS1, STARD4, CIMAP1A, DNAJC1, UNC13A, CLPTM1L, CTAGE1, RNASEH2B, DCC, FGFR2, MIR3134, EBLN1, GATA3, GATA6, GCLC, MACROH2A1, H2BC13, LINC03103, PITX1-AS1
- Drugs: Tamsulosin, Alfuzosin, Solifenacin, Dutasteride, Tadalafil, Silodosin, Finasteride, Cetrorelix, Cephalexin, Doxazosin, Mirabegron, Talaporfin, Ciprofloxacin, Alcohol, Bupivacaine, Celecoxib, Degarelix, Diclofenac, Etonogestrel, Furosemide, Methoxyflurane, Nitrofurantoin, Oxygen, Paclitaxel, Pyridostigmine, Raloxifene, Fexapotide, Topsalysin, Lonidamine, Ozarelix