Pyloric stenosis
diseaseOn this page
Also known as gastric outlet obstructionGOOpyloric stenosis (disease)
Summary
Pyloric stenosis (MONDO:0001561) is a disease with 29 cohort genes and 27 clinical trials. Top therapeutic interventions include acetaminophen.
At a glance
- Cohort genes: 29
- ClinVar variants: 34
- Clinical trials: 27
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pyloric stenosis |
| Mondo ID | MONDO:0001561 |
| EFO | EFO:0009626 |
| MeSH | D011707, D017219 |
| DOID | DOID:12639, DOID:3122 |
| NCIT | C34966 |
| SNOMED CT | 367403001 |
| UMLS | C0034194 |
| MedGen | 18780 |
| MedDRA | 10062499 |
| Is cancer (heuristic) | no |
Also known as: gastric outlet obstruction · GOO · pyloric stenosis · pyloric stenosis (disease)
Data availability: 34 ClinVar variants · 1 HPO phenotype.
Disease family
An umbrella term covering 1 Mondo subtype.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › stomach disorder › pyloric stenosis
Related subtypes (18): gastric ulcer, functional gastric disease, Dieulafoy lesion, pylorospasm, cascade stomach, gastric dilatation, stomach diverticulosis, gastritis, gastroesophageal reflux disease, hiatus hernia, stomach polyp, non-hypoproteinemic hypertrophic gastropathy, gastric neoplasm, angiodysplasia of stomach, achlorhydria, gastric intestinal metaplasia, gastric duplication, pyloric duplication
Subtypes (1): hypertrophic pyloric stenosis
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
34 retrieved; paginated sample, class counts are floors:
29 uncertain significance, 2 likely pathogenic, 1 likely benign, 1 pathogenic, 1 benign/likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 638688 | NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) | MAP1B | Pathogenic | criteria provided, single submitter |
| 523522 | NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) | CHD7 | Likely pathogenic | criteria provided, single submitter |
| 691346 | NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg) | TENT5A | Likely pathogenic | no assertion criteria provided |
| 267864 | 46;XY;t(2;13)(p25.2;q31.3)dn | Uncertain significance | criteria provided, single submitter | |
| 691340 | NM_001387011.1(AMBRA1):c.431C>T (p.Ala144Val) | AMBRA1 | Uncertain significance | no assertion criteria provided |
| 691412 | NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) | ATP1A3 | Uncertain significance | no assertion criteria provided |
| 691414 | NM_001130021.3(ATP6V0A1):c.1340G>A (p.Arg447Gln) | ATP6V0A1 | Uncertain significance | no assertion criteria provided |
| 691415 | NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) | C2CD4A | Uncertain significance | no assertion criteria provided |
| 691416 | NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) | CACNA1C | Uncertain significance | no assertion criteria provided |
| 691419 | NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) | CDC27 | Uncertain significance | no assertion criteria provided |
| 691425 | NM_198390.3(CMIP):c.1478C>G (p.Thr493Ser) | CMIP | Uncertain significance | no assertion criteria provided |
| 691431 | NM_001382508.1(DROSHA):c.323G>A (p.Arg108Lys) | DROSHA | Uncertain significance | no assertion criteria provided |
| 691432 | NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) | DSCAM | Uncertain significance | no assertion criteria provided |
| 691344 | NM_001374736.1(DST):c.11993C>G (p.Ser3998Ter) | DST | Uncertain significance | no assertion criteria provided |
| 691349 | NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) | GABRG2 | Uncertain significance | no assertion criteria provided |
| 691355 | NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) | IGSF3 | Uncertain significance | no assertion criteria provided |
| 691357 | NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) | INSR | Uncertain significance | no assertion criteria provided |
| 691359 | NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) | ITGB1 | Uncertain significance | no assertion criteria provided |
| 691364 | NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly) | KCNA6 | Uncertain significance | no assertion criteria provided |
| 691447 | NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) | LOC101928335 | Uncertain significance | no assertion criteria provided |
| 691452 | NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) | LOC126860794 | Uncertain significance | no assertion criteria provided |
| 691450 | NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) | NAGS | Uncertain significance | no assertion criteria provided |
| 691367 | NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) | PDE4D | Uncertain significance | criteria provided, single submitter |
| 691369 | NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) | PLK2 | Uncertain significance | no assertion criteria provided |
| 691374 | NM_001034853.2(RPGR):c.780G>T (p.Glu260Asp) | RPGR | Uncertain significance | no assertion criteria provided |
| 691381 | NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) | SIPA1 | Uncertain significance | no assertion criteria provided |
| 691386 | NM_001288718.2(STAT5A):c.1279G>A (p.Ala427Thr) | STAT5A | Uncertain significance | no assertion criteria provided |
| 691387 | NM_001395460.1(TENM2):c.4165C>A (p.Leu1389Met) | TENM2 | Uncertain significance | no assertion criteria provided |
| 691345 | NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) | TENT5A | Uncertain significance | no assertion criteria provided |
| 691347 | NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) | TENT5A | Uncertain significance | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 52 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| RPGR | Orphanet:1872 | Cone rod dystrophy |
| RPGR | Orphanet:244 | Primary ciliary dyskinesia |
| RPGR | Orphanet:247522 | Primary ciliary dyskinesia-retinitis pigmentosa syndrome |
| RPGR | Orphanet:49382 | Achromatopsia |
| RPGR | Orphanet:791 | Retinitis pigmentosa |
| DST | Orphanet:314381 | Hereditary sensory and autonomic neuropathy type 6 |
| DST | Orphanet:412181 | Epidermolysis bullosa simplex due to BP230 deficiency |
| TCF4 | Orphanet:171 | Primary sclerosing cholangitis |
| TCF4 | Orphanet:178469 | Autosomal dominant non-syndromic intellectual disability |
| TCF4 | Orphanet:2896 | Pitt-Hopkins syndrome |
| TCF4 | Orphanet:98974 | Fuchs endothelial corneal dystrophy |
| 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 |
| CACNA1C | Orphanet:101016 | Romano-Ward syndrome |
| CACNA1C | Orphanet:130 | Brugada syndrome |
| CACNA1C | Orphanet:528084 | Non-specific syndromic intellectual disability |
| CACNA1C | Orphanet:595098 | Timothy syndrome type 1 |
| CACNA1C | Orphanet:595105 | Timothy syndrome type 2 |
| CACNA1C | Orphanet:595109 | Atypical Timothy syndrome |
| NAGS | Orphanet:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency |
| TENT5A | Orphanet:216812 | Osteogenesis imperfecta type 3 |
| CHD7 | Orphanet:138 | CHARGE syndrome |
| CHD7 | Orphanet:39041 | Omenn syndrome |
| CHD7 | Orphanet:432 | Normosmic congenital hypogonadotropic hypogonadism |
| CHD7 | Orphanet:478 | Kallmann syndrome |
| GABRG2 | Orphanet:1945 | Self-limited epilepsy with centrotemporal spikes |
| GABRG2 | Orphanet:33069 | Dravet syndrome |
| GABRG2 | Orphanet:36387 | Genetic epilepsy with febrile seizure plus |
| GABRG2 | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
| GABRG2 | Orphanet:64280 | Childhood absence epilepsy |
| IGSF3 | Orphanet:451612 | Familial congenital nasolacrimal duct obstruction |
| INSR | Orphanet:2297 | Insulin-resistance syndrome type A |
| INSR | Orphanet:263458 | Hyperinsulinism due to INSR deficiency |
| INSR | Orphanet:508 | Donohue syndrome |
| INSR | Orphanet:769 | Rabson-Mendenhall syndrome |
| KCNN3 | Orphanet:3473 | Zimmermann-Laband syndrome |
| MAP1B | Orphanet:90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA |
| MAP1B | Orphanet:98892 | Periventricular nodular heterotopia |
| ATP1A3 | Orphanet:1171 | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome |
| ATP1A3 | Orphanet:2131 | Alternating hemiplegia of childhood |
| ATP1A3 | Orphanet:442835 | Non-specific early-onset epileptic encephalopathy |
| ATP1A3 | Orphanet:71517 | Rapid-onset dystonia-parkinsonism |
| ATP6V0A1 | Orphanet:528084 | Non-specific syndromic intellectual disability |
Cohort genes → proteins
29 cohort genes, 29 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 29 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| RPGR | HGNC:10295 | ENSG00000156313 | Q92834 | X-linked retinitis pigmentosa GTPase regulator | clinvar |
| SIPA1 | HGNC:10885 | ENSG00000213445 | Q96FS4 | Signal-induced proliferation-associated protein 1 | clinvar |
| DST | HGNC:1090 | ENSG00000151914 | Q03001 | Dystonin | clinvar |
| STAT5A | HGNC:11366 | ENSG00000126561 | P42229 | Signal transducer and activator of transcription 5A | clinvar |
| TCF4 | HGNC:11634 | ENSG00000196628 | P15884 | Transcription factor 4 | clinvar |
| TERT | HGNC:11730 | ENSG00000164362 | O14746 | Telomerase reverse transcriptase | clinvar |
| CACNA1C | HGNC:1390 | ENSG00000151067 | Q13936 | Voltage-dependent L-type calcium channel subunit alpha-1C | clinvar |
| WDR13 | HGNC:14352 | ENSG00000101940 | Q9H1Z4 | WD repeat-containing protein 13 | clinvar |
| CDC27 | HGNC:1728 | ENSG00000004897 | P30260 | Cell division cycle protein 27 homolog | clinvar |
| DROSHA | HGNC:17904 | ENSG00000113360 | Q9NRR4 | Ribonuclease 3 | clinvar |
| NAGS | HGNC:17996 | ENSG00000161653 | Q8N159 | N-acetylglutamate synthase, mitochondrial | clinvar |
| TENT5A | HGNC:18345 | ENSG00000112773 | Q96IP4 | Terminal nucleotidyltransferase 5A | clinvar |
| PLK2 | HGNC:19699 | ENSG00000145632 | Q9NYY3 | Serine/threonine-protein kinase PLK2 | clinvar |
| CHD7 | HGNC:20626 | ENSG00000171316 | Q9P2D1 | ATP-dependent chromatin remodeler CHD7 | clinvar |
| CMIP | HGNC:24319 | ENSG00000153815 | Q8IY22 | C-Maf-inducing protein | clinvar |
| AMBRA1 | HGNC:25990 | ENSG00000110497 | Q9C0C7 | Activating molecule in BECN1-regulated autophagy protein 1 | clinvar |
| TENM2 | HGNC:29943 | ENSG00000145934 | Q9NT68 | Teneurin-2 | clinvar |
| DSCAM | HGNC:3039 | ENSG00000171587 | O60469 | Cell adhesion molecule DSCAM | clinvar |
| C2CD4A | HGNC:33627 | ENSG00000198535 | Q8NCU7 | C2 calcium-dependent domain-containing protein 4A | clinvar |
| GABRG2 | HGNC:4087 | ENSG00000113327 | P18507 | Gamma-aminobutyric acid receptor subunit gamma-2 | clinvar |
| IGSF3 | HGNC:5950 | ENSG00000143061 | O75054 | Immunoglobulin superfamily member 3 | clinvar |
| INSR | HGNC:6091 | ENSG00000171105 | P06213 | Insulin receptor | clinvar |
| ITGB1 | HGNC:6153 | ENSG00000150093 | P05556 | Integrin beta-1 | clinvar |
| KCNA6 | HGNC:6225 | ENSG00000151079 | P17658 | Potassium voltage-gated channel subfamily A member 6 | clinvar |
| KCNN3 | HGNC:6292 | ENSG00000143603 | Q9UGI6 | Small conductance calcium-activated potassium channel protein 3 | clinvar |
| MAP1B | HGNC:6836 | ENSG00000131711 | P46821 | Microtubule-associated protein 1B | clinvar |
| ATP1A3 | HGNC:801 | ENSG00000105409 | P13637 | Sodium/potassium-transporting ATPase subunit alpha-3 | clinvar |
| ATP6V0A1 | HGNC:865 | ENSG00000033627 | Q93050 | V-type proton ATPase 116 kDa subunit a 1 | clinvar |
| PDE4D | HGNC:8783 | ENSG00000113448 | Q08499 | 3’,5’-cyclic-AMP phosphodiesterase 4D | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| RPGR | X-linked retinitis pigmentosa GTPase regulator | Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP. |
| SIPA1 | Signal-induced proliferation-associated protein 1 | GTPase activator for the nuclear Ras-related regulatory proteins Rap1 and Rap2 in vitro, converting them to the putatively inactive GDP-bound state. |
| DST | Dystonin | Cytoskeletal linker protein. |
| STAT5A | Signal transducer and activator of transcription 5A | Carries out a dual function: signal transduction and activation of transcription. |
| TCF4 | Transcription factor 4 | Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. |
| TERT | Telomerase reverse transcriptase | Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. |
| CACNA1C | Voltage-dependent L-type calcium channel subunit alpha-1C | Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents. |
| CDC27 | Cell division cycle protein 27 homolog | Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. |
| DROSHA | Ribonuclease 3 | Ribonuclease III double-stranded (ds) RNA-specific endoribonuclease that is involved in the initial step of microRNA (miRNA) biogenesis. |
| NAGS | N-acetylglutamate synthase, mitochondrial | Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity. |
| TENT5A | Terminal nucleotidyltransferase 5A | Cytoplasmic non-canonical poly(A) RNA polymerase that catalyzes the transfer of one adenosine molecule from an ATP to an mRNA poly(A) tail bearing a 3’-OH terminal group and participates in the cytoplasmic polyadenylation. |
| PLK2 | Serine/threonine-protein kinase PLK2 | Tumor suppressor serine/threonine-protein kinase involved in synaptic plasticity, centriole duplication and G1/S phase transition. |
| CHD7 | ATP-dependent chromatin remodeler CHD7 | ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP. |
| CMIP | C-Maf-inducing protein | Plays a role in T-cell signaling pathway. |
| AMBRA1 | Activating molecule in BECN1-regulated autophagy protein 1 | Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex involved in cell cycle control and autophagy. |
| TENM2 | Teneurin-2 | Involved in neural development, regulating the establishment of proper connectivity within the nervous system. |
| DSCAM | Cell adhesion molecule DSCAM | Cell adhesion molecule that plays a role in neuronal self-avoidance. |
| C2CD4A | C2 calcium-dependent domain-containing protein 4A | May be involved in inflammatory process. |
| GABRG2 | Gamma-aminobutyric acid receptor subunit gamma-2 | Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. |
| INSR | Insulin receptor | Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. |
| ITGB1 | Integrin beta-1 | Integrins alpha-1/beta-1, alpha-2/beta-1, alpha-10/beta-1 and alpha-11/beta-1 are receptors for collagen. |
| KCNA6 | Potassium voltage-gated channel subfamily A member 6 | Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes. |
| KCNN3 | Small conductance calcium-activated potassium channel protein 3 | Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calci… |
| MAP1B | Microtubule-associated protein 1B | Facilitates tyrosination of alpha-tubulin in neuronal microtubules. |
| ATP1A3 | Sodium/potassium-transporting ATPase subunit alpha-3 | This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. |
| ATP6V0A1 | V-type proton ATPase 116 kDa subunit a 1 | Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that transports protons across cellular membranes. |
| PDE4D | 3’,5’-cyclic-AMP phosphodiesterase 4D | Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. |
Protein-family classification
Druggable: 11 · Difficult: 7 · Unknown: 11 · Druggable fraction: 0.38
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 |
|---|---|---|---|
| Ion channel | 3 | 11.5× | 0.015 |
| Kinase | 3 | 2.9× | 0.199 |
| Scaffold/PPI | 4 | 2.4× | 0.199 |
| Antibody/Immunoglobulin | 2 | 2.0× | 0.458 |
| Enzyme (other) | 3 | 1.2× | 0.616 |
| Transcription factor | 3 | 0.8× | 0.816 |
| Other/Unknown | 11 | 0.7× | 0.983 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| RPGR | Other/Unknown | no | Reg_chr_condens, RCC1/BLIP-II, Signaling_Regulatory_Domain | |
| SIPA1 | Scaffold/PPI | no | Rap/Ran_GAP_dom, PDZ, Rap/Ran-GAP_sf | |
| DST | Scaffold/PPI | no | Plectin_repeat, SH3_domain, Actinin_actin-bd_CS | |
| STAT5A | Transcription factor | no | SH2, STAT, p53-like_TF_DNA-bd_sf | |
| TCF4 | Transcription factor | no | 7.6.2.3 | bHLH_dom, HLH_DNA-bd_sf, NeuroDiff_E-box_TFs |
| TERT | Other/Unknown | no | RT_dom, Telomerase_RT, Telomerase_RBD | |
| CACNA1C | Ion channel | yes | VDCCAlpha1, VDCC_L_a1su, VDCC_L_a1csu | |
| WDR13 | Scaffold/PPI | no | WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf | |
| CDC27 | Other/Unknown | no | TPR-like_helical_dom_sf, TPR_rpt | |
| DROSHA | Enzyme (other) | yes | 3.1.26.3 | RNase_III_dom, RNase_III, dsRBD_dom |
| NAGS | Kinase | yes | 2.3.1.1 | GNAT_dom, Asp/Glu/Uridylate_kinase, Vertebrate-like_GNAT_dom |
| TENT5A | Enzyme (other) | yes | 2.7.7.19 | TET5 |
| PLK2 | Kinase | yes | 2.7.11.21 | Prot_kinase_dom, POLO_box_dom, Ser/Thr_kinase_AS |
| CHD7 | Other/Unknown | no | SNF2_N, Chromo/chromo_shadow_dom, Helicase_C-like | |
| CMIP | Other/Unknown | no | LRR_dom_sf, CMIP, PH_CMIP | |
| AMBRA1 | Scaffold/PPI | no | WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_CS | |
| TENM2 | Other/Unknown | no | EGF, EGF-like_Ca-bd_dom, YD | |
| DSCAM | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, FN3_dom | |
| C2CD4A | Other/Unknown | no | C2_dom, C2_domain_sf, C2_Ca-dependent_4 | |
| GABRG2 | Other/Unknown | no | GABRG-1/4, GABBAg2_rcpt, GABAA/Glycine_rcpt | |
| IGSF3 | Antibody/Immunoglobulin | yes | Ig_sub2, Ig_sub, Ig-like_dom | |
| INSR | Kinase | yes | 2.7.10.1 | Rcpt_L-dom, Prot_kinase_dom, Ser-Thr/Tyr_kinase_cat_dom |
| ITGB1 | Other/Unknown | no | Integrin_bsu_VWA, Integrin_bsu_tail, EGF_extracell | |
| KCNA6 | Ion channel | yes | BTB/POZ_dom, T1-type_BTB, K_chnl_volt-dep_Kv | |
| KCNN3 | Ion channel | yes | CaM-bd_dom, K_chnl_dom, K_chnl_Ca-activ_SK | |
| MAP1B | Other/Unknown | no | MAP1B_neuraxin, MAP1, MAP1B/S_N | |
| ATP1A3 | Transcription factor | no | P_typ_ATPase, ATPase_P-typ_cation-transptr_N, P-type_ATPase_IIC | |
| ATP6V0A1 | Other/Unknown | no | V-ATPase_116kDa_su, V-type_ATPase_116kDa_su_euka | |
| PDE4D | Enzyme (other) | yes | 3.1.4.53 | PDEase_catalytic_dom, PDEase, PDEase_CS |
Expression context
Cohort genes with no expression data: 0.
27 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) | 29 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| cortical plate | 5 |
| apex of heart | 3 |
| secondary oocyte | 3 |
| right uterine tube | 2 |
| granulocyte | 2 |
| spleen | 2 |
| medial globus pallidus | 2 |
| endothelial cell | 2 |
| pericardium | 2 |
| buccal mucosa cell | 2 |
| oocyte | 2 |
| ileal mucosa | 2 |
| middle temporal gyrus | 2 |
| lateral nuclear group of thalamus | 2 |
| superior frontal gyrus | 2 |
| visceral pleura | 2 |
| substantia nigra pars reticulata | 2 |
| bronchial epithelial cell | 1 |
| sperm | 1 |
| lower esophagus mucosa | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| RPGR | 281 | ubiquitous | marker | sperm, bronchial epithelial cell, right uterine tube |
| SIPA1 | 191 | ubiquitous | marker | granulocyte, spleen, lower esophagus mucosa |
| DST | 305 | ubiquitous | marker | corpus callosum, calcaneal tendon, medial globus pallidus |
| STAT5A | 190 | ubiquitous | marker | granulocyte, monocyte, leukocyte |
| TCF4 | 292 | ubiquitous | marker | endothelial cell, skin of hip, pericardium |
| TERT | 105 | broad | yes | stromal cell of endometrium, type B pancreatic cell, olfactory bulb |
| CACNA1C | 134 | broad | marker | apex of heart, right coronary artery, muscle layer of sigmoid colon |
| WDR13 | 292 | ubiquitous | marker | body of pancreas, apex of heart, right uterine tube |
| CDC27 | 293 | ubiquitous | marker | secondary oocyte, buccal mucosa cell, oocyte |
| DROSHA | 283 | ubiquitous | marker | endothelial cell, ventricular zone, germinal epithelium of ovary |
| NAGS | 160 | broad | marker | ileal mucosa, right lobe of liver, jejunal mucosa |
| TENT5A | 270 | ubiquitous | marker | parotid gland, tibia, pericardium |
| PLK2 | 289 | ubiquitous | marker | spleen, apex of heart, cortical plate |
| CHD7 | 269 | ubiquitous | marker | secondary oocyte, cerebellar vermis, sural nerve |
| CMIP | 247 | ubiquitous | marker | kidney epithelium, pancreatic ductal cell, ileal mucosa |
| AMBRA1 | 279 | ubiquitous | marker | oocyte, secondary oocyte, cervix squamous epithelium |
| TENM2 | 207 | broad | marker | left ventricle myocardium, cardiac muscle of right atrium, middle temporal gyrus |
| DSCAM | 83 | broad | marker | endometrium epithelium, cortical plate, lateral nuclear group of thalamus |
| C2CD4A | 126 | broad | marker | islet of Langerhans, epithelial cell of pancreas, cartilage tissue |
| GABRG2 | 174 | tissue_specific | marker | middle temporal gyrus, Brodmann (1909) area 23, superior frontal gyrus |
| IGSF3 | 265 | ubiquitous | marker | cortical plate, tongue squamous epithelium, gingival epithelium |
| INSR | 296 | ubiquitous | marker | buccal mucosa cell, palpebral conjunctiva, visceral pleura |
| ITGB1 | 303 | ubiquitous | marker | visceral pleura, seminal vesicle, pleura |
| KCNA6 | 123 | tissue_specific | yes | cortical plate, male germ line stem cell (sensu Vertebrata) in testis, prefrontal cortex |
| KCNN3 | 227 | broad | marker | lateral globus pallidus, substantia nigra pars reticulata, medial globus pallidus |
| MAP1B | 299 | ubiquitous | marker | lateral nuclear group of thalamus, substantia nigra pars compacta, substantia nigra pars reticulata |
| ATP1A3 | 129 | broad | marker | superior frontal gyrus, primary visual cortex, cortical plate |
| ATP6V0A1 | 287 | ubiquitous | marker | right frontal lobe, right hemisphere of cerebellum, cerebellar hemisphere |
| PDE4D | 283 | ubiquitous | marker | gluteal muscle, biceps brachii, skeletal muscle tissue of rectus abdominis |
Protein interactions among cohort
Intra-cohort edges: 4.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| DROSHA | 6,846 |
| TERT | 5,717 |
| ITGB1 | 5,325 |
| CDC27 | 5,006 |
| CHD7 | 4,819 |
| INSR | 4,446 |
| AMBRA1 | 4,380 |
| STAT5A | 4,153 |
| ATP1A3 | 3,876 |
| MAP1B | 3,724 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| CACNA1C | CMIP | intact |
| DSCAM | DST | biogrid_interaction |
| DSCAM | WDR13 | intact |
| INSR | TENT5A | intact |
Structural data
PDB: 21 · AlphaFold-only: 8 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| PDE4D | Q08499 | 122 |
| INSR | P06213 | 88 |
| GABRG2 | P18507 | 75 |
| CACNA1C | Q13936 | 33 |
| CDC27 | P30260 | 25 |
| TERT | O14746 | 23 |
| ITGB1 | P05556 | 22 |
| DROSHA | Q9NRR4 | 12 |
| PLK2 | Q9NYY3 | 7 |
| ATP6V0A1 | Q93050 | 7 |
| STAT5A | P42229 | 5 |
| TCF4 | P15884 | 5 |
| ATP1A3 | P13637 | 5 |
| RPGR | Q92834 | 3 |
| CHD7 | Q9P2D1 | 3 |
| DST | Q03001 | 2 |
| TENT5A | Q96IP4 | 2 |
| AMBRA1 | Q9C0C7 | 2 |
| TENM2 | Q9NT68 | 2 |
| NAGS | Q8N159 | 1 |
| DSCAM | O60469 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| IGSF3 | O75054 | 81.81 |
| WDR13 | Q9H1Z4 | 79.85 |
| CMIP | Q8IY22 | 79.52 |
| KCNA6 | P17658 | 75.42 |
| SIPA1 | Q96FS4 | 72.20 |
| KCNN3 | Q9UGI6 | 68.54 |
| C2CD4A | Q8NCU7 | 59.36 |
| MAP1B | P46821 | 46.18 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 221. Enrichment computed across 29 evidence-associated genes (22 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 22 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| NAGS variants cause NAGS deficiency | 1 | 519.1× | 0.126 | NAGS |
| Localization of the PINCH-ILK-PARVIN complex to focal adhesions | 1 | 129.8× | 0.126 | ITGB1 |
| DSCAM interactions | 1 | 103.8× | 0.126 | DSCAM |
| IRS activation | 1 | 103.8× | 0.126 | INSR |
| MET interacts with TNS proteins | 1 | 103.8× | 0.126 | ITGB1 |
| Erythropoietin activates STAT5 | 1 | 74.2× | 0.126 | STAT5A |
| STAT5 Activation | 1 | 74.2× | 0.126 | STAT5A |
| Regulation of MITF-M-dependent genes involved in DNA replication, damage repair and senescence | 1 | 74.2× | 0.126 | TERT |
| CHL1 interactions | 1 | 57.7× | 0.126 | ITGB1 |
| Interleukin-9 signaling | 1 | 57.7× | 0.126 | STAT5A |
| Ca2+ activated K+ channels | 1 | 51.9× | 0.126 | KCNN3 |
| FGFR1 mutant receptor activation | 1 | 51.9× | 0.126 | STAT5A |
| Interleukin-21 signaling | 1 | 51.9× | 0.126 | STAT5A |
| CD163 mediating an anti-inflammatory response | 1 | 51.9× | 0.126 | PLK2 |
| Signaling by KIT in disease | 1 | 51.9× | 0.126 | STAT5A |
| FLT3 signaling in disease | 1 | 51.9× | 0.126 | STAT5A |
| STAT5 activation downstream of FLT3 ITD mutants | 1 | 51.9× | 0.126 | STAT5A |
| Signaling by Leptin | 1 | 47.2× | 0.126 | STAT5A |
| Type I hemidesmosome assembly | 1 | 47.2× | 0.126 | DST |
| Signal attenuation | 1 | 47.2× | 0.126 | INSR |
| Signaling by Erythropoietin | 1 | 47.2× | 0.126 | STAT5A |
| Interleukin-2 signaling | 1 | 43.3× | 0.126 | STAT5A |
| Urea cycle | 1 | 39.9× | 0.126 | NAGS |
| Signaling by Insulin receptor | 1 | 39.9× | 0.126 | INSR |
| Kidney development | 1 | 37.1× | 0.126 | ITGB1 |
| Insulin receptor recycling | 2 | 34.6× | 0.126 | INSR, ATP6V0A1 |
| Prolactin receptor signaling | 1 | 34.6× | 0.126 | STAT5A |
| Phase 2 - plateau phase | 1 | 34.6× | 0.126 | CACNA1C |
| Interleukin-15 signaling | 1 | 34.6× | 0.126 | STAT5A |
| Signaling by FLT3 ITD and TKD mutants | 1 | 34.6× | 0.126 | STAT5A |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 29 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| RNA-templated transcription | 1 | 581.1× | 0.042 | TERT |
| right ventricular compact myocardium morphogenesis | 1 | 581.1× | 0.042 | CHD7 |
| developmental maturation | 1 | 581.1× | 0.042 | MAP1B |
| DNA strand elongation | 1 | 581.1× | 0.042 | TERT |
| myoblast fate specification | 1 | 581.1× | 0.042 | ITGB1 |
| induction of synaptic plasticity by chemical substance | 1 | 581.1× | 0.042 | MAP1B |
| siRNA transcription | 1 | 581.1× | 0.042 | TERT |
| positive regulation of transdifferentiation | 1 | 581.1× | 0.042 | TERT |
| RNA-templated DNA biosynthetic process | 1 | 290.6× | 0.042 | TERT |
| regulation of collagen catabolic process | 1 | 290.6× | 0.042 | ITGB1 |
| positive regulation of hair cycle | 1 | 290.6× | 0.042 | TERT |
| positive regulation of meiotic cell cycle | 1 | 290.6× | 0.042 | INSR |
| positive regulation of glutamate uptake involved in transmission of nerve impulse | 1 | 290.6× | 0.042 | ITGB1 |
| post-embryonic retina morphogenesis in camera-type eye | 1 | 290.6× | 0.042 | DSCAM |
| positive regulation of mast cell differentiation | 1 | 290.6× | 0.042 | STAT5A |
| cardiac cell fate specification | 1 | 290.6× | 0.042 | ITGB1 |
| establishment of monopolar cell polarity | 1 | 290.6× | 0.042 | MAP1B |
| negative regulation of relaxation of cardiac muscle | 1 | 290.6× | 0.042 | PDE4D |
| positive regulation of free ubiquitin chain polymerization | 1 | 290.6× | 0.042 | AMBRA1 |
| regulation of female gonad development | 1 | 290.6× | 0.042 | INSR |
| regulation of vascular permeability involved in acute inflammatory response | 1 | 193.7× | 0.042 | C2CD4A |
| L-arginine biosynthetic process | 1 | 193.7× | 0.042 | NAGS |
| cranial nerve development | 1 | 193.7× | 0.042 | CHD7 |
| olfactory nerve development | 1 | 193.7× | 0.042 | CHD7 |
| negative regulation of intracellular transport | 1 | 193.7× | 0.042 | MAP1B |
| negative regulation of mast cell apoptotic process | 1 | 193.7× | 0.042 | STAT5A |
| cellular response to water deprivation | 1 | 193.7× | 0.042 | SIPA1 |
| development of animal secondary female sexual characteristics | 1 | 193.7× | 0.042 | STAT5A |
| development of animal secondary male sexual characteristics | 1 | 193.7× | 0.042 | STAT5A |
| regulation of growth hormone secretion | 1 | 193.7× | 0.042 | CHD7 |
Therapeutics
Drug target analysis
Approved (phase 4): 9 · Phase ≥3: 10 · Phased (≥1): 11 · Undrugged: 18
Druggability breadth: 13 of 29 evidence-associated genes (45%) 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 |
|---|---|
| STAT5A | MOMELOTINIB |
| TERT | BERBERINE |
| CACNA1C | REMIFENTANIL |
| PLK2 | FEDRATINIB |
| GABRG2 | ENZALUTAMIDE |
| INSR | FEDRATINIB |
| KCNN3 | DEQUALINIUM CHLORIDE |
| ATP1A3 | OMEPRAZOLE |
| PDE4D | INAMRINONE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PDE4D | 269 | 4 |
| CACNA1C | 85 | 4 |
| GABRG2 | 55 | 4 |
| INSR | 36 | 4 |
| PLK2 | 12 | 4 |
| TERT | 10 | 4 |
| ATP1A3 | 5 | 4 |
| STAT5A | 4 | 4 |
| ITGB1 | 4 | 3 |
| KCNN3 | 2 | 4 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| MOMELOTINIB | 4 | STAT5A |
| BERBERINE | 4 | TERT |
| DOXORUBICIN | 4 | TERT |
| REMIFENTANIL | 4 | CACNA1C |
| BEPRIDIL | 4 | CACNA1C |
| CLOTRIMAZOLE | 4 | CACNA1C |
| PROPIVERINE | 4 | CACNA1C |
| DIBUCAINE | 4 | CACNA1C |
| IMIPRAMINE | 4 | CACNA1C |
| DULOXETINE | 4 | CACNA1C |
| QUINIDINE | 4 | CACNA1C |
| ESTRADIOL | 4 | CACNA1C |
| TOLTERODINE | 4 | CACNA1C |
| PIMOZIDE | 4 | CACNA1C |
| NIMODIPINE | 4 | CACNA1C, PDE4D |
| NICARDIPINE | 4 | CACNA1C |
| AMLODIPINE | 4 | CACNA1C |
| VARDENAFIL | 4 | CACNA1C, PDE4D |
| CLEMASTINE | 4 | CACNA1C |
| ISRADIPINE | 4 | CACNA1C, PDE4D |
| TERFENADINE | 4 | CACNA1C |
| NISOLDIPINE | 4 | CACNA1C, PDE4D |
| SOLIFENACIN | 4 | CACNA1C |
| PINAVERIUM | 4 | CACNA1C |
| SILDENAFIL | 4 | CACNA1C, PDE4D |
| NIFEDIPINE | 4 | CACNA1C |
| XANOMELINE | 4 | CACNA1C |
| DILTIAZEM | 4 | CACNA1C |
| PRENYLAMINE | 4 | CACNA1C |
| OLICERIDINE | 4 | CACNA1C |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 7.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| GABRG2 | 1,155 | Binding:940, Functional:201, ADMET:10, Toxicity:4 |
| INSR | 954 | Binding:900, Functional:49, ADMET:4, Toxicity:1 |
| PDE4D | 863 | Binding:805, Functional:33, ADMET:23, Toxicity:2 |
| CACNA1C | 575 | Binding:319, Functional:211, Toxicity:26, ADMET:19 |
| ITGB1 | 409 | Binding:376, Functional:32, ADMET:1 |
| TERT | 391 | Binding:389, Functional:2 |
| PLK2 | 270 | Binding:268, ADMET:1, Functional:1 |
| STAT5A | 199 | Binding:199 |
| KCNN3 | 51 | Binding:51 |
| ATP1A3 | 45 | Binding:45 |
| TCF4 | 31 | Binding:31 |
| KCNA6 | 29 | Binding:24, Functional:3, Toxicity:1, ADMET:1 |
| MAP1B | 10 | Binding:6, Functional:4 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| TCF4 | 7.6.2.3 | ABC-type glutathione-S-conjugate transporter |
| DROSHA | 3.1.26.3 | ribonuclease III |
| NAGS | 2.3.1.1 | amino-acid N-acetyltransferase |
| TENT5A | 2.7.7.19 | polynucleotide adenylyltransferase |
| PLK2 | 2.7.11.21 | polo kinase |
| INSR | 2.7.10.1 | receptor protein-tyrosine kinase |
| PDE4D | 3.1.4.53 | 3’,5’-cyclic-AMP phosphodiesterase |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| STAT5A | 199 |
| TERT | 391 |
| CACNA1C | 575 |
| PLK2 | 270 |
| GABRG2 | 1,155 |
| INSR | 954 |
| ITGB1 | 409 |
| PDE4D | 863 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 29; 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) |
|---|---|---|
| MOMELOTINIB | 4 | STAT5A |
| BERBERINE | 4 | TERT |
| DOXORUBICIN | 4 | TERT |
| REMIFENTANIL | 4 | CACNA1C |
| BEPRIDIL | 4 | CACNA1C |
| CLOTRIMAZOLE | 4 | CACNA1C |
| PROPIVERINE | 4 | CACNA1C |
| DIBUCAINE | 4 | CACNA1C |
| IMIPRAMINE | 4 | CACNA1C |
| DULOXETINE | 4 | CACNA1C |
| QUINIDINE | 4 | CACNA1C |
| ESTRADIOL | 4 | CACNA1C |
| TOLTERODINE | 4 | CACNA1C |
| PIMOZIDE | 4 | CACNA1C |
| NIMODIPINE | 4 | CACNA1C, PDE4D |
| NICARDIPINE | 4 | CACNA1C |
| AMLODIPINE | 4 | CACNA1C |
| VARDENAFIL | 4 | CACNA1C, PDE4D |
| CLEMASTINE | 4 | CACNA1C |
| ISRADIPINE | 4 | CACNA1C, PDE4D |
| TERFENADINE | 4 | CACNA1C |
| NISOLDIPINE | 4 | CACNA1C, PDE4D |
| SOLIFENACIN | 4 | CACNA1C |
| PINAVERIUM | 4 | CACNA1C |
| SILDENAFIL | 4 | CACNA1C, PDE4D |
| NIFEDIPINE | 4 | CACNA1C |
| XANOMELINE | 4 | CACNA1C |
| DILTIAZEM | 4 | CACNA1C |
| PRENYLAMINE | 4 | CACNA1C |
| OLICERIDINE | 4 | CACNA1C |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 9 | STAT5A, TERT, CACNA1C, PLK2, GABRG2, INSR, KCNN3, ATP1A3, PDE4D |
| B | Phased (≥1) drug, not yet approved | 2 | TCF4, ITGB1 |
| C | Druggable family + PDB, no drug | 4 | DROSHA, NAGS, TENT5A, DSCAM |
| D | Druggable family + AlphaFold only, no drug | 2 | IGSF3, KCNA6 |
| E | Difficult family or no structure, no drug | 12 | RPGR, SIPA1, DST, WDR13, CDC27, CHD7, CMIP, AMBRA1, TENM2, C2CD4A (+2 more) |
Undrugged target profiles
18 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| RPGR | 0 | — |
| SIPA1 | 0 | — |
| DST | 0 | — |
| WDR13 | 0 | — |
| CDC27 | 0 | — |
| DROSHA | 0 | — |
| NAGS | 0 | — |
| TENT5A | 0 | — |
| CHD7 | 0 | — |
| CMIP | 0 | — |
| AMBRA1 | 0 | — |
| TENM2 | 0 | — |
| DSCAM | 0 | — |
| C2CD4A | 0 | — |
| IGSF3 | 0 | — |
| KCNA6 | 29 | — |
| MAP1B | 10 | — |
| ATP6V0A1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 27.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 24 |
| PHASE4 | 1 |
| PHASE2/PHASE3 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00556283 | PHASE4 | COMPLETED | RCT: STARR vs Biofeedback |
| NCT03223480 | PHASE2/PHASE3 | COMPLETED | EUS - Guided Balloon-occluded Gastrojejunostomy Bypass |
| NCT01139853 | EARLY_PHASE1 | COMPLETED | Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis |
| NCT04813055 | Not specified | RECRUITING | Prospective Registry Of Therapeutic EndoscopiC ulTrasound |
| NCT05548114 | Not specified | ACTIVE_NOT_RECRUITING | Randomized Trial of EUS-guided Gastrojejunostomy and Surgical Gastrojejunostomy in Gastric Outlet Obstruction |
| NCT05640947 | Not specified | RECRUITING | Endoscopic Ultrasound-guided Large Diameter Lumen-apposing Metal Stent Gastro-gastrostomy for Bypass Reversal in Patients With Roux-en-y Gastric Bypass |
| NCT06071507 | Not specified | RECRUITING | Management of Malignant Gastric Outlet Obstruction Between Surgery and Endoscopy |
| NCT07161856 | Not specified | NOT_YET_RECRUITING | Novel Balloon-Assisted vs Direct Technique in EUS-Guided Gastroenterostomy |
| NCT07317076 | Not specified | RECRUITING | GT Metabolic Magnet System in Adults With Gastrointestinal Disorders |
| NCT07609511 | Not specified | NOT_YET_RECRUITING | Magnet System Gastric Outlet Obstruction Study |
| NCT00144924 | Not specified | TERMINATED | Open vs Laparoscopic Pyloromyotomy for Pyloric Stenosis |
| NCT00409734 | Not specified | COMPLETED | Frequency of Formula Change Prior to the Accurate Diagnosis of Pyloric Stenosis |
| NCT00487552 | Not specified | TERMINATED | Magnetic Anastomosis Device Relief of Malignant Gastric Outlet Obstruction |
| NCT00991614 | Not specified | COMPLETED | EVOLUTION® Duodenal Stent for Duodenal or Gastric Outlet Obstruction Caused by Malignant Neoplasms |
| NCT01839292 | Not specified | COMPLETED | ComVi and D-type Stent in Malignant GOO |
| NCT02299258 | Not specified | COMPLETED | Gastric Outlet Obstructions Tailored Covered Stents for GOO |
| NCT02359305 | Not specified | COMPLETED | Institutional Audit of the Use of Intravenous Acetaminophen in Infants Undergoing Pyloromyotomy |
| NCT02775214 | Not specified | TERMINATED | Conventional Direct Laryngoscopy Vs. Video Laryngoscopy With The C-MAC For Pyloromyotomy |
| NCT03259763 | Not specified | COMPLETED | EUS-GE vs ES for Palliation of Gastric Outlet Obstruction |
| NCT03650842 | Not specified | COMPLETED | Changes in Cerebral Oxygenation During Laparoscopic Pyloromyotomy |
| NCT03823690 | Not specified | COMPLETED | EPASS Versus Uncovered Duodenal Stent for Unresectable Malignant Gastric Outlet Obstruction. |
| NCT04660695 | Not specified | COMPLETED | Nasobiliary Drain Assisted EUS-guided Gastroenterostomies in Unresectable Malignant Gastric Outlet Obstruction |
| NCT05041608 | Not specified | UNKNOWN | Endoscopic Surgery for Gastrointestinal Disorders: A Multicenter Registry Study |
| NCT05561907 | Not specified | UNKNOWN | Enteral Anastomosis for the Treatment of Gastric Outlet Obstruction: A Randomized Controlled Study Comparing Endoscopic Versus Surgical Gastrojejunostomy |
| NCT05605327 | Not specified | UNKNOWN | EUS-guided Versus Laparoscopic Gastrojejunostomy for Malignant Gastric Outlet Obstruction |
| NCT05644951 | Not specified | COMPLETED | Clinical Trial of EPASS With Hot AXIOS System |
| NCT06174805 | Not specified | SUSPENDED | AXIOS™ Gastroenterostomy for Gastric Outlet Obstruction IDE |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ACETAMINOPHEN | 4 | 1 |