Barrett esophagus

disease

On this page

Also known as adenocarcinoma of oesophagusBarrett esophagus/esophageal adenocarcinomaBarrett's esophagusBarrett's oesophagus with esophagitisBarrett's ulcer of oesophagusBECELLOCLEcolumnar epithelial-lined Lower esophaguscolumnar epithelial-lined Lower oesophaguscolumnar-lined esophaguscolumnar-lined oesophagus

Summary

Barrett esophagus (MONDO:0013662) is a disease with 34 cohort genes (145 GWAS associations across 28 studies) and 269 clinical trials. Top therapeutic interventions include esomeprazole, enalapril, and dexlansoprazole.

At a glance

Cohort genes: 34
GWAS associations: 145
ClinVar variants: 5
Clinical trials: 269

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Barrett esophagus
Mondo ID	MONDO:0013662
EFO	EFO:0000280
MeSH	D001471
OMIM	614266
Orphanet	1232
DOID	DOID:9206
ICD-10-CM	K22.7
NCIT	C2891
SNOMED CT	196609006
UMLS	C0004763
MedGen	2551
Is cancer (heuristic)	no

Also known as: adenocarcinoma of oesophagus · Barrett esophagus · Barrett esophagus/esophageal adenocarcinoma · Barrett’s esophagus · Barrett’s oesophagus with esophagitis · Barrett’s ulcer of oesophagus · BE · CELLO · cello · CLE · columnar epithelial-lined Lower esophagus · columnar epithelial-lined Lower oesophagus · columnar-lined esophagus · columnar-lined oesophagus

Data availability: 5 ClinVar variants · 145 GWAS associations (28 studies) · 3 GenCC gene-disease records · 9 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › digestive system disorder › upper digestive tract disorder › esophageal disorder › Barrett esophagus

Genetics & variants

GWAS landscape

145 GWAS associations across 28 studies. Top hits map to 21 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1537372	3e-26	CDKN2B-AS1	G	0.13
rs2891698	6e-19	KLHL26 - CRTC1	G	0.1
rs622217	3e-18	SLC22A2 - SLC22A3	T	0.13
rs2289081	2e-16	GDF7 - LDAH	G	0.1
rs12504496	1e-15	LINC01091	A	0.12
rs9306895	2e-15	GDF7	T	0.12
rs7255	6e-15	GDF7	T	0.09
chr5:134529416	7e-14		T	0.09
rs35631104	1e-13	LINC02253	G	0.13
rs72760500	2e-13	NNT - RNU6-381P	A	0.23
rs2597301	3e-13	RNU6-281P - FOXP1	C	0.12
rs61487437	4e-13	NNT - RNU6-381P	G	0.17
rs7723887	5e-13	PITX1-AS1	T	0.09
rs149252763	6e-13	LINC01091	G	0.14
rs3072	9e-13	GDF7	T	0.11
rs2687197	3e-12	RNU6-281P - FOXP1	T	0.11
rs185206559	6e-12	NEURL1B - DUSP1	C	1.81
rs4676893	8e-12	RNU6-281P - FOXP1	?	0.11
rs4646614	3e-11	ALDH1A2	A	0.1
rs3950627	3e-11	LINC00917 - FENDRR	A	0.1
rs2188554	3e-11	ASZ1, CFTR	A	0.13
rs7170896	4e-11	ALDH1A2	A	0.11
rs58407103	6e-11	BLK-AS1 - LINC00208	T	0.12
rs146917555	7e-11	PLCL1 - RNU7-147P	A	0.1
rs1247942	1e-10	GLULP5 - LINC02459	G	0.1
rs60849513	1e-10	SLC66A1LP	T	0.12
rs111613945	1e-10	LINC00208	C	0.1
rs144823843	2e-10	CEP72	A	0.12
rs7045553	2e-10	TMOD1	T	0.1
rs9936833	3e-10	LINC00917 - FENDRR	C	1.14

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90432133	Jiang Y	2023	116,382	213,325	A cross-disorder study to identify causal relationships, shared genetic variants, and genes across 21 digestive disorders.
GCST90258656	Schroder J	2022	16,790	32,476	GWAS meta-analysis of 16 790 patients with Barrett’s oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level.
GCST90476048	Verma A	2024	14,584	432,257	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90000515	Ong JS	2021	13,358	43,071	Multitrait genetic association analysis identifies 50 new risk loci for gastro-oesophageal reflux, seven new loci for Barrett’s oesophagus and provides insights into clinical heterogeneity in reflux diagnosis.
GCST90258657	Schroder J	2022	11,208	32,476	GWAS meta-analysis of 16 790 patients with Barrett’s oesophagus and oesophageal adenocarcinoma identifies 16 novel genetic risk loci and provides insights into disease aetiology beyond the single marker level.
GCST008831	An J	2019	8,998	19,247	Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.
GCST011461	Dong J	2020	6,758	7,489	Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma.
GCST011462	Dong J	2020	6,758	7,489	Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma.
GCST011463	Dong J	2020	6,758	7,489	Sex-Specific Genetic Associations for Barrett’s Esophagus and Esophageal Adenocarcinoma.
GCST90044123	Jiang L	2021	6,591	449,757	A generalized linear mixed model association tool for biobank-scale data.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	4
Tier 3: regulatory	1
Tier 4: intronic/intergenic	45

MAF distribution

Bucket	Variants
common (>=0.05)	48
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	0

Functional consequences

Consequence	Count
intron_variant	26
intergenic_variant	16
3_prime_UTR_variant	4
unknown	2
regulatory_region_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1537372	9	22103184	G>A,T	0.44	intron_variant	CDKN2B-AS1	3e-26	Tier 4: intronic/intergenic
rs2891698	19	18677171	G>A,C	0.477	intergenic_variant	KLHL26 - CRTC1	6e-19	Tier 4: intronic/intergenic
rs622217	6	160345738	T>A,C	0.49	intergenic_variant	SLC22A2 - SLC22A3	3e-18	Tier 4: intronic/intergenic
rs2289081	2	20682080	G>A,C	0.361	intergenic_variant	GDF7 - LDAH	2e-16	Tier 4: intronic/intergenic
rs12504496	4	123628089	A>G	0.175	intron_variant	LINC01091	1e-15	Tier 4: intronic/intergenic
rs9306895	2	20678393	T>C	0.369	3_prime_UTR_variant	GDF7	2e-15	Tier 2: splice/UTR
rs7255	2	20679060	T>A,C	0.496	3_prime_UTR_variant	GDF7	6e-15	Tier 2: splice/UTR
chr5:134529416				0.374			7e-14	Tier 4: intronic/intergenic
rs35631104	15	97014558	GA>G,GAA	0.251	intron_variant	LINC02253	1e-13	Tier 4: intronic/intergenic
rs72760500	5	43785571	G>A	0.059	intergenic_variant	NNT - RNU6-381P	2e-13	Tier 4: intronic/intergenic
rs2597301	3	70860343	C>G	0.31	intergenic_variant	RNU6-281P - FOXP1	3e-13	Tier 4: intronic/intergenic
rs61487437	5	43855144	G>C,T	0.059	regulatory_region_variant	NNT - RNU6-381P	4e-13	Tier 3: regulatory
rs7723887	5	135207864	T>A,C	0.451	intron_variant	PITX1-AS1	5e-13	Tier 4: intronic/intergenic
rs149252763	4	123640999	GGGAAGGAA>G,GGGAA,GGGAAGGAAGGAAGGAA	0.187	intron_variant	LINC01091	6e-13	Tier 4: intronic/intergenic
rs3072	2	20678646	T>A,C,G	0.37	3_prime_UTR_variant	GDF7	9e-13	Tier 2: splice/UTR
rs2687197	3	70873169	T>C	0.315	intergenic_variant	RNU6-281P - FOXP1	3e-12	Tier 4: intronic/intergenic
rs185206559	5	172749643	C>G,T	0.002	intron_variant	NEURL1B - DUSP1	6e-12	Tier 4: intronic/intergenic
rs4676893	3	70868488	A>T	0.05	intergenic_variant	RNU6-281P - FOXP1	8e-12	Tier 4: intronic/intergenic
rs4646614	15	57972595	ATAGT>A,ATAGTTAGT,ATAGTTAGTTAGT	0.435	intron_variant	ALDH1A2	3e-11	Tier 4: intronic/intergenic
rs3950627	16	86402737	C>A,G	0.476	intergenic_variant	LINC00917 - FENDRR	3e-11	Tier 4: intronic/intergenic
rs2188554	7	117400063	A>G,T	0.187	intron_variant	ASZ1, CFTR	3e-11	Tier 4: intronic/intergenic
rs7170896	15	57960195	T>A,C,G	0.451	intron_variant	ALDH1A2	4e-11	Tier 4: intronic/intergenic
rs58407103	8	11574435		0.337	intergenic_variant	BLK-AS1 - LINC00208	6e-11	Tier 4: intronic/intergenic
rs146917555	2	199159992		0.415	intron_variant	PLCL1 - RNU7-147P	7e-11	Tier 4: intronic/intergenic
rs1247942	12	114235918	G>A,C	0.41	intergenic_variant	GLULP5 - LINC02459	1e-10	Tier 4: intronic/intergenic
rs60849513	3	157593634	G>C,T	0.214	intron_variant	SLC66A1LP	1e-10	Tier 4: intronic/intergenic
rs111613945	8	11576907	C>CCCGGTTT,CGGTTT	0.468	non_coding_transcript_exon_variant	LINC00208	1e-10	Tier 4: intronic/intergenic
rs144823843	5	642178	A>C,G,T	0.204	intron_variant	CEP72	2e-10	Tier 4: intronic/intergenic
rs7045553	9	97545507	C>G,T	0.396	intron_variant	TMOD1	2e-10	Tier 4: intronic/intergenic
rs9936833	16	86369512	C>A,G,T	0.37	intergenic_variant	LINC00917 - FENDRR	3e-10	Tier 4: intronic/intergenic

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1285416	NM_001198800.3(ASCC1):c.714C>A (p.Tyr238Ter)	ASCC1	Pathogenic	criteria provided, single submitter
14357	NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)	MSR1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2431593	NM_001198800.3(ASCC1):c.778C>T (p.Arg260Cys)	ASCC1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2431546	NM_138715.3(MSR1):c.217G>A (p.Ala73Thr)	MSR1	Uncertain significance	criteria provided, single submitter
4079291	NM_138715.3(MSR1):c.980-1G>T	MSR1	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 25 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CTHRC1	Limited	Autosomal dominant	Barrett esophagus
MSR1	Limited	Unknown	Barrett esophagus	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MSR1	Orphanet:1331	Familial prostate cancer
BLK	Orphanet:536	Systemic lupus erythematosus
BLK	Orphanet:552	MODY
SLC12A6	Orphanet:1496	Corpus callosum agenesis-neuronopathy syndrome
TBX5	Orphanet:101016	Romano-Ward syndrome
TBX5	Orphanet:392	Holt-Oram syndrome
RP1L1	Orphanet:247834	Occult macular dystrophy
RP1L1	Orphanet:791	Retinitis pigmentosa
CFTR	Orphanet:399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation
CFTR	Orphanet:48	Congenital bilateral absence of vas deferens
CFTR	Orphanet:498359	Aquagenic palmoplantar keratoderma
CFTR	Orphanet:586	Cystic fibrosis
CFTR	Orphanet:60033	Idiopathic bronchiectasis
CFTR	Orphanet:700124	Autosomal recessive hereditary chronic pancreatitis
SATB2	Orphanet:251019	2q32q33 deletion syndrome
SATB2	Orphanet:251028	SATB2-associated syndrome due to a chromosomal rearrangement
SATB2	Orphanet:576283	SATB2-associated syndrome due to a pathogenic variant
ASCC1	Orphanet:486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures
VPS35L	Orphanet:7	3C syndrome
DPYSL2	Orphanet:178469	Autosomal dominant non-syndromic intellectual disability
FOXF1	Orphanet:210122	Congenital alveolar capillary dysplasia
FOXP1	Orphanet:391372	FOXP1 Syndrome
FOXP1	Orphanet:52417	MALT lymphoma
FOXP1	Orphanet:585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
APOB	Orphanet:391665	Homozygous familial hypercholesterolemia

Cohort genes → proteins

34 cohort genes, 33 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	31
multi_evidence	3

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MSR1	HGNC:7376	ENSG00000038945	P21757	Macrophage scavenger receptor types I and II	gencc,clinvar
CTHRC1	HGNC:18831	ENSG00000164932	Q96CG8	Collagen triple helix repeat-containing protein 1	gencc
BLK	HGNC:1057	ENSG00000136573	P51451	Tyrosine-protein kinase Blk	gwas
SLC12A6	HGNC:10914	ENSG00000140199	Q9UHW9	Solute carrier family 12 member 6	gwas
TBX5	HGNC:11604	ENSG00000089225	Q99593	T-box transcription factor TBX5	gwas
TMOD1	HGNC:11871	ENSG00000136842	P28289	Tropomodulin-1	gwas
ASZ1	HGNC:1350	ENSG00000154438	Q8WWH4	Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1	gwas
ALDH1A2	HGNC:15472	ENSG00000128918	O94788	Retinal dehydrogenase 2	gwas
LINC00208	HGNC:15535	ENSG00000170983	Q96KT6	Putative uncharacterized protein encoded by LINC00208	gwas
RP1L1	HGNC:15946	ENSG00000183638	Q8IWN7	Retinitis pigmentosa 1-like 1 protein	gwas
CRTC1	HGNC:16062	ENSG00000105662	Q6UUV9	CREB-regulated transcription coactivator 1	gwas
KHDRBS2	HGNC:18114	ENSG00000112232	Q5VWX1	KH domain-containing, RNA-binding, signal transduction-associated protein 2	gwas
AGO3	HGNC:18421	ENSG00000126070	Q9H9G7	Protein argonaute-3	gwas
CFTR	HGNC:1884	ENSG00000001626	P13569	Cystic fibrosis transmembrane conductance regulator	gwas
SATB2	HGNC:21637	ENSG00000119042	Q9UPW6	DNA-binding protein SATB2	gwas
TPPP	HGNC:24164	ENSG00000171368	O94811	Tubulin polymerization-promoting protein	gwas
ASCC1	HGNC:24268	ENSG00000138303	Q8N9N2	Activating signal cointegrator 1 complex subunit 1	clinvar
VPS35L	HGNC:24641	ENSG00000103544	Q7Z3J2	VPS35 endosomal protein-sorting factor-like	gwas
CEP72	HGNC:25547	ENSG00000112877	Q9P209	Centrosomal protein of 72 kDa	gwas
LDAH	HGNC:26145	ENSG00000118961	Q9H6V9	Lipid droplet-associated hydrolase	gwas
IKBIP	HGNC:26430	ENSG00000166130	Q70UQ0	Inhibitor of nuclear factor kappa-B kinase-interacting protein	gwas
SLFN11	HGNC:26633	ENSG00000172716	Q7Z7L1	Schlafen family member 11	gwas
DPYSL2	HGNC:3014	ENSG00000092964	Q16555	Dihydropyrimidinase-related protein 2	gwas
PRSS55	HGNC:30824	ENSG00000184647	Q6UWB4	Serine protease 55	gwas
MTRNR2L9	HGNC:37166		P0CJ76	Humanin-like 9	gwas
FOXF1	HGNC:3809	ENSG00000103241	Q12946	Forkhead box protein F1	gwas
FOXP1	HGNC:3823	ENSG00000114861	Q9H334	Forkhead box protein P1	gwas
LSP1P3	HGNC:39718	ENSG00000162685		LSP1 pseudogene 3	gwas
GDF7	HGNC:4222	ENSG00000143869	Q7Z4P5	Growth/differentiation factor 7	gwas
APOB	HGNC:603	ENSG00000084674	P04114	Apolipoprotein B-100	gwas
LMO3	HGNC:6643	ENSG00000048540	Q8TAP4	LIM domain only protein 3	gwas
MGST1	HGNC:7061	ENSG00000008394	P10620	Microsomal glutathione S-transferase 1	gwas
MSRA	HGNC:7377	ENSG00000175806	Q9UJ68	Mitochondrial peptide methionine sulfoxide reductase	gwas
BARX1	HGNC:955	ENSG00000131668	Q9HBU1	Homeobox protein BarH-like 1	gwas

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MSR1	Macrophage scavenger receptor types I and II	Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis.
CTHRC1	Collagen triple helix repeat-containing protein 1	May act as a negative regulator of collagen matrix deposition.
BLK	Tyrosine-protein kinase Blk	Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling.
SLC12A6	Solute carrier family 12 member 6	Mediates electroneutral potassium-chloride cotransport when activated by cell swelling.
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.
TMOD1	Tropomodulin-1	Blocks the elongation and depolymerization of the actin filaments at the pointed end.
ASZ1	Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1	Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity.
ALDH1A2	Retinal dehydrogenase 2	Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans-13,14-dihydroretinoate, respectively.
RP1L1	Retinitis pigmentosa 1-like 1 protein	Required for the differentiation of photoreceptor cells.
CRTC1	CREB-regulated transcription coactivator 1	Transcriptional coactivator for CREB1 which activates transcription through both consensus and variant cAMP response element (CRE) sites.
KHDRBS2	KH domain-containing, RNA-binding, signal transduction-associated protein 2	RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion.
AGO3	Protein argonaute-3	Required for RNA-mediated gene silencing (RNAi).
CFTR	Cystic fibrosis transmembrane conductance regulator	Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis.
SATB2	DNA-binding protein SATB2	Binds to DNA, at nuclear matrix- or scaffold-associated regions.
TPPP	Tubulin polymerization-promoting protein	Regulator of microtubule dynamics that plays a key role in myelination by promoting elongation of the myelin sheath.
ASCC1	Activating signal cointegrator 1 complex subunit 1	Plays a role in DNA damage repair as component of the ASCC complex.
VPS35L	VPS35 endosomal protein-sorting factor-like	Acts as a component of the retriever complex.
CEP72	Centrosomal protein of 72 kDa	Involved in the recruitment of key centrosomal proteins to the centrosome.
LDAH	Lipid droplet-associated hydrolase	Probable serine lipid hydrolase associated with lipid droplets.
IKBIP	Inhibitor of nuclear factor kappa-B kinase-interacting protein	Target of p53/TP53 with pro-apoptotic function.
SLFN11	Schlafen family member 11	Inhibitor of DNA replication that promotes cell death in response to DNA damage.
DPYSL2	Dihydropyrimidinase-related protein 2	Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration.
PRSS55	Serine protease 55	Probable serine protease, which plays a crucial role in the fertility of male mice including sperm migration and sperm-egg interaction.
MTRNR2L9	Humanin-like 9	Plays a role as a neuroprotective and antiapoptotic factor.
FOXF1	Forkhead box protein F1	Probable transcription activator for a number of lung-specific genes.
FOXP1	Forkhead box protein P1	Transcriptional repressor.
GDF7	Growth/differentiation factor 7	May play an active role in the motor area of the primate neocortex.
APOB	Apolipoprotein B-100	Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100).
MGST1	Microsomal glutathione S-transferase 1	Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
MSRA	Mitochondrial peptide methionine sulfoxide reductase	Catalyzes the reversible oxidation-reduction of methionine sulfoxide in proteins to methionine.
BARX1	Homeobox protein BarH-like 1	Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis.

Protein-family classification

Druggable: 6 · Difficult: 7 · Unknown: 21 · Druggable fraction: 0.18

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
Transporter	1	2.3×	0.623
Kinase	2	1.6×	0.623
Transcription factor	6	1.5×	0.623
Other/Unknown	21	1.1×	0.623
Protease	1	1.1×	0.854
Enzyme (other)	2	0.7×	0.868
Scaffold/PPI	1	0.5×	0.868

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MSR1	Other/Unknown	no		SRCR, SR-AI/II, Collagen
CTHRC1	Other/Unknown	no		CTHRC1_C
BLK	Kinase	yes	2.7.10.2	Prot_kinase_dom, SH2, Ser-Thr/Tyr_kinase_cat_dom
SLC12A6	Other/Unknown	no		KCL_cotranspt, AA-permease/SLC12A_dom, SLC12A_fam
TBX5	Transcription factor	no		TF_T-box, p53-like_TF_DNA-bd_sf, TF_T-box_CS
TMOD1	Other/Unknown	no		TMOD, LRR_dom_sf
ASZ1	Scaffold/PPI	no		SAM, Ankyrin_rpt, SAM/pointed_sf
ALDH1A2	Enzyme (other)	yes	1.2.1.36	Aldehyde_DH_dom, Ald_DH_CS_CYS, Ald_DH/histidinol_DH
LINC00208	Other/Unknown	no
RP1L1	Other/Unknown	no		Doublecortin_dom, Doublecortin_dom_sf
CRTC1	Other/Unknown	no		TORC_N, TORC_M, TORC_C
KHDRBS2	Other/Unknown	no		KH_dom, Sam68-YY, Qua1_dom
AGO3	Other/Unknown	no		PAZ_dom, Piwi, RNaseH-like_sf
CFTR	Transporter	yes	2.7.4.3	ABC_transporter-like_ATP-bd, AAA+_ATPase, CFTR/ABCC7
SATB2	Transcription factor	no		HD, CUT_dom, Homeodomain-like_sf
TPPP	Other/Unknown	no		TPP/p25, EF-hand-dom_pair
ASCC1	Other/Unknown	no		KH_dom_type_1, Cyclic_Pdiesterase, ASCC1
VPS35L	Other/Unknown	no		VPS35L
CEP72	Other/Unknown	no		Leu-rich_rpt, Leu-rich_rpt_typical-subtyp, U2A’_phosphoprotein32A_C
LDAH	Other/Unknown	no		LDAH, AB_hydrolase_fold
IKBIP	Kinase	yes		Inh_kappa-B_kinase-int
SLFN11	Other/Unknown	no		Schlafen_AlbA_2_dom, SLFN_3-like_DNA/RNA_helicase, P-loop_NTPase
DPYSL2	Other/Unknown	no		Amidohydro-rel, Metal-dep_hydrolase_composite, Hydantoinase/dihydroPyrase
PRSS55	Protease	yes		Trypsin_dom, Peptidase_S1A, Peptidase_S1_PA
MTRNR2L9	Other/Unknown	no		Humanin
FOXF1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2
FOXP1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_2, FOXP-CC
LSP1P3	Other/Unknown	no
GDF7	Other/Unknown	no		TGF-b_propeptide, TGF-b_C, TGF-beta-like
APOB	Other/Unknown	no		Vitellogenin_N, Lipid_transpt_open_b-sht, Lipovitellin_superhlx_dom
LMO3	Transcription factor	no		Znf_LIM, LMO_RBTN_TF
MGST1	Other/Unknown	no		Membr-assoc_MAPEG, MAPEG-like_dom_sf, MGST1-like
MSRA	Enzyme (other)	yes	1.8.4.11	Met_Sox_Rdtase_MsrA_dom, Met_Sox_Rdtase_MsrA_sf, MsrA_MetSO_reductase
BARX1	Transcription factor	no		HTH_motif, HD, Homeodomain-like_sf

Expression context

Cohort genes with no expression data: 1.

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)	1
broad (>20)	32
unknown	1

Top tissues across cohort

Tissue	Cohort genes
male germ line stem cell (sensu Vertebrata) in testis	5
buccal mucosa cell	4
primordial germ cell in gonad	4
monocyte	3
cortical plate	3
calcaneal tendon	3
ventricular zone	3
right lung	2
blood	2
islet of Langerhans	2
type B pancreatic cell	2
right testis	2
sperm	2
left testis	2
Brodmann (1909) area 23	2
middle temporal gyrus	2
colonic epithelium	2
stromal cell of endometrium	2
mucosa of stomach	2
upper lobe of left lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MSR1	206	broad	marker	right lung, upper lobe of left lung, upper lobe of lung
CTHRC1	228	ubiquitous	marker	tibia, skin of hip, visceral pleura
BLK	145	tissue_specific	marker	spleen, male germ line stem cell (sensu Vertebrata) in testis, lymph node
SLC12A6	274	ubiquitous	marker	esophagus squamous epithelium, blood, secondary oocyte
TBX5	129	broad	marker	tendon of biceps brachii, cardiac muscle of right atrium, buccal mucosa cell
TMOD1	265	broad	marker	type B pancreatic cell, hindlimb stylopod muscle, islet of Langerhans
ASZ1	60	tissue_specific	marker	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, right testis
ALDH1A2	226	broad	marker	germinal epithelium of ovary, decidua, sperm
LINC00208	9		yes	monocyte, gastrocnemius, left testis
RP1L1	30	tissue_specific	yes	primordial germ cell in gonad, buccal mucosa cell, bone marrow cell
CRTC1	218	ubiquitous	marker	olfactory bulb, type B pancreatic cell, paraflocculus
KHDRBS2	102	broad	marker	cortical plate, corpus callosum, male germ line stem cell (sensu Vertebrata) in testis
AGO3	257	ubiquitous	marker	buccal mucosa cell, cauda epididymis, caput epididymis
CFTR	193	broad	marker	body of pancreas, gall bladder, pancreas
SATB2	235	ubiquitous	marker	periodontal ligament, cortical plate, mucosa of sigmoid colon
TPPP	257	broad	marker	Brodmann (1909) area 23, middle temporal gyrus, postcentral gyrus
ASCC1	282	ubiquitous	marker	calcaneal tendon, ventricular zone, sperm
VPS35L	282	ubiquitous	marker	buccal mucosa cell, stromal cell of endometrium, colonic epithelium
CEP72	173	ubiquitous	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, ventricular zone
LDAH	254	ubiquitous	marker	adrenal tissue, male germ line stem cell (sensu Vertebrata) in testis, islet of Langerhans
IKBIP	224	ubiquitous	marker	stromal cell of endometrium, calcaneal tendon, monocyte
SLFN11	215	ubiquitous	marker	monocyte, leukocyte, calcaneal tendon
DPYSL2	301	ubiquitous	marker	inferior vagus X ganglion, subthalamic nucleus, substantia nigra pars compacta
PRSS55	49	tissue_specific	yes	primordial germ cell in gonad, right testis, left testis
MTRNR2L9
FOXF1	202	broad	marker	muscle layer of sigmoid colon, mucosa of stomach, right lung
FOXP1	256	ubiquitous	marker	pancreatic ductal cell, oviduct epithelium, cardia of stomach
LSP1P3	67	tissue_specific	yes	blood, colonic epithelium, ventricular zone
GDF7	168	broad	marker	seminal vesicle, endometrium, blood vessel layer
APOB	116	broad	marker	jejunal mucosa, liver, ileal mucosa

Protein interactions among cohort

Intra-cohort edges: 11.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CFTR	7,664
APOB	5,244
ALDH1A2	4,289
DPYSL2	2,980
BLK	2,967
FOXP1	2,939
MSRA	2,363
AGO3	2,299
MSR1	2,259
SATB2	2,254

Intra-cohort edges

A	B	Sources
ALDH1A2	CFTR	intact
ASCC1	CTHRC1	string_interaction
ASCC1	MSR1	string_interaction
BARX1	FOXF1	string_interaction
CFTR	SLC12A6	intact
FOXF1	FOXP1	biogrid_interaction
FOXF1	SATB2	biogrid_interaction
FOXP1	SATB2	biogrid_interaction, intact, string_interaction
IKBIP	MSR1	biogrid_interaction
MSRA	RP1L1	string_interaction
PRSS55	RP1L1	string_interaction

Structural data

PDB: 17 · AlphaFold-only: 16 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CFTR	P13569	58
DPYSL2	Q16555	15
SLC12A6	Q9UHW9	8
SLFN11	Q7Z7L1	8
APOB	P04114	8
ALDH1A2	O94788	7
VPS35L	Q7Z3J2	7
TMOD1	P28289	6
TBX5	Q99593	4
CRTC1	Q6UUV9	3
SATB2	Q9UPW6	3
TPPP	O94811	3
AGO3	Q9H9G7	2
MSR1	P21757	1
ASCC1	Q8N9N2	1
FOXP1	Q9H334	1
BARX1	Q9HBU1	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LDAH	Q9H6V9	90.59
MSRA	Q9UJ68	89.13
LMO3	Q8TAP4	88.38
IKBIP	Q70UQ0	83.32
BLK	P51451	81.89
CTHRC1	Q96CG8	79.78
MGST1	P10620	78.65
PRSS55	Q6UWB4	76.06
GDF7	Q7Z4P5	72.03
MTRNR2L9	P0CJ76	71.49
KHDRBS2	Q5VWX1	70.39
ASZ1	Q8WWH4	66.83
CEP72	Q9P209	65.74
FOXF1	Q12946	59.41
LINC00208	Q96KT6	51.52
RP1L1	Q8IWN7	38.97

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 177. Enrichment computed across 34 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
Scavenging by Class A Receptors	2	54.6×	0.064	MSR1, APOB
Binding and Uptake of Ligands by Scavenger Receptors	2	49.4×	0.064	MSR1, APOB
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	1	519.1×	0.085	SLC12A6
Gene Silencing by RNA	2	32.4×	0.085	ASZ1, AGO3
RHO GTPases regulate CFTR trafficking	1	173.0×	0.098	CFTR
ALKBH3 mediated reversal of alkylation damage	1	129.8×	0.098	ASCC1
Scavenging by Class H Receptors	1	129.8×	0.098	APOB
PTK6 Regulates Proteins Involved in RNA Processing	1	103.8×	0.098	KHDRBS2
VLDL assembly	1	103.8×	0.098	APOB
Chylomicron clearance	1	103.8×	0.098	APOB
Formation of lateral plate mesoderm	1	103.8×	0.098	FOXF1
Scavenging by Class F Receptors	1	86.5×	0.098	APOB
Protein repair	1	86.5×	0.098	MSRA
RUNX1 regulates transcription of genes involved in BCR signaling	1	86.5×	0.098	BLK
LDL remodeling	1	86.5×	0.098	APOB
VLDL clearance	1	86.5×	0.098	APOB
Regulation of NPAS4 gene expression	1	86.5×	0.098	AGO3
Cation-coupled Chloride cotransporters	1	74.2×	0.098	SLC12A6
Post-transcriptional silencing by small RNAs	1	74.2×	0.098	AGO3
DNA Damage Reversal	1	74.2×	0.098	ASCC1
Reversal of alkylation damage by DNA dioxygenases	1	74.2×	0.098	ASCC1
Competing endogenous RNAs (ceRNAs) regulate PTEN translation	1	64.9×	0.098	AGO3
Regulation of CDH11 mRNA translation by microRNAs	1	57.7×	0.098	AGO3
Regulation of NPAS4 mRNA translation	1	57.7×	0.098	AGO3
Regulation of PD-L1(CD274) translation	1	57.7×	0.098	AGO3
Small interfering RNA (siRNA) biogenesis	1	51.9×	0.098	AGO3
Regulation of PTEN mRNA translation	1	51.9×	0.098	AGO3
Chylomicron assembly	1	51.9×	0.098	APOB
Chylomicron remodeling	1	51.9×	0.098	APOB
Scavenging by Class B Receptors	1	47.2×	0.098	APOB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 32 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
cholesterol transport	3	68.7×	0.004	MSR1, CFTR, APOB
positive regulation of cholesterol storage	2	150.5×	0.011	MSR1, APOB
midgut development	2	131.7×	0.011	ALDH1A2, FOXF1
endocardial cushion development	2	87.8×	0.019	TBX5, FOXF1
lipoprotein transport	2	62.0×	0.030	MSR1, APOB
lung development	3	18.6×	0.030	TBX5, ALDH1A2, FOXF1
positive regulation of macrophage derived foam cell differentiation	2	52.7×	0.030	MSR1, APOB
determination of bilateral symmetry	1	526.6×	0.031	ALDH1A2
detection of wounding	1	526.6×	0.031	FOXF1
roof plate formation	1	526.6×	0.031	GDF7
embryonic ectodermal digestive tract morphogenesis	1	526.6×	0.031	FOXF1
microtubule nucleation by microtubule organizing center	1	526.6×	0.031	TPPP
right lung morphogenesis	1	526.6×	0.031	FOXF1
cell migration involved in coronary vasculogenesis	1	526.6×	0.031	TBX5
cellular response to lipid hydroperoxide	1	526.6×	0.031	MGST1
regulation of macrophage colony-stimulating factor production	1	526.6×	0.031	FOXP1
positive regulation of cardiac conduction	1	526.6×	0.031	TBX5
pancreas development	2	42.1×	0.031	ALDH1A2, FOXF1
embryonic forelimb morphogenesis	2	31.0×	0.031	TBX5, ALDH1A2
establishment of localization in cell	3	15.1×	0.031	MSR1, CFTR, APOB
cardiac left ventricle formation	1	263.3×	0.038	TBX5
regulation of monocyte differentiation	1	263.3×	0.038	FOXP1
lateral mesodermal cell differentiation	1	263.3×	0.038	FOXF1
atrioventricular node cell fate commitment	1	263.3×	0.038	TBX5
bundle of His cell to Purkinje myocyte communication by electrical coupling	1	263.3×	0.038	TBX5
establishment of planar polarity involved in neural tube closure	1	263.3×	0.038	CTHRC1
regulation of defense response to bacterium	1	263.3×	0.038	FOXP1
positive regulation of cell communication by electrical coupling involved in cardiac conduction	1	263.3×	0.038	TBX5
negative regulation of membrane hyperpolarization	1	263.3×	0.038	CRTC1
positive regulation of nuclear receptor-mediated glucocorticoid signaling pathway	1	263.3×	0.038	LMO3

Therapeutics

Drugs indicated for this disease

1 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Porfimer Sodium	Approved (phase 4)
Melatonin	Phase 3 (in late-stage trials)
Omeprazole	Phase 3 (in late-stage trials)
Pantoprazole	Phase 3 (in late-stage trials)
Ranitidine	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Aspirin, Dexlansoprazole, Obeticholic Acid.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 32

Druggability breadth: 10 of 34 evidence-associated genes (29%) 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
BLK	AFATINIB
CFTR	IVACAFTOR

Top cohort targets by molecule count

Symbol	Molecules	Max phase
BLK	62	4
CFTR	14	4
MSR1	0	0
CTHRC1	0	0
SLC12A6	0	0
TBX5	0	0
TMOD1	0	0
ASZ1	0	0
ALDH1A2	0	0
LINC00208	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
AFATINIB	4	BLK
FEDRATINIB	4	BLK
AXITINIB	4	BLK
SORAFENIB	4	BLK
NERATINIB	4	BLK
IBRUTINIB	4	BLK
ENTRECTINIB	4	BLK
BELUMOSUDIL	4	BLK
AFATINIB DIMALEATE	4	BLK
VANDETANIB	4	BLK
NILOTINIB	4	BLK
BOSUTINIB	4	BLK
BRIGATINIB	4	BLK
ACALABRUTINIB	4	BLK
ZANUBRUTINIB	4	BLK
TIRABRUTINIB	4	BLK
RITLECITINIB	4	BLK
PAZOPANIB	4	BLK
NINTEDANIB	4	BLK
SUNITINIB	4	BLK
DASATINIB	4	BLK
ERLOTINIB	4	BLK
QUIZARTINIB	4	BLK
CRIZOTINIB	4	BLK
MIDOSTAURIN	4	BLK
GEFITINIB	4	BLK
IMATINIB	4	BLK
IVACAFTOR	4	CFTR
LUMACAFTOR	4	CFTR
TEZACAFTOR	4	CFTR

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

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

Symbol	Assays	Type breakdown
CFTR	520	Binding:497, Functional:17, ADMET:5, Toxicity:1
BLK	483	Binding:477, ADMET:4, Functional:2
ALDH1A2	32	Binding:32
SATB2	6	Binding:6
SLFN11	6	Binding:6
DPYSL2	3	Binding:3
MGST1	3	ADMET:2, Binding:1
MSR1	1	Binding:1
TBX5	1	Binding:1
APOB	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
BLK	2.7.10.2	non-specific protein-tyrosine kinase
ALDH1A2	1.2.1.36	retinal dehydrogenase
CFTR	2.7.4.3, 5.6.1.6	adenylate kinase, channel-conductance-controlling ATPase
MSRA	1.8.4.11	peptide-methionine (S)-S-oxide reductase

Cohort genes with high screening signal

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

Symbol	ChEMBL assays
BLK	483
CFTR	520

Pharmacogenomics

Cohort genes with a PharmGKB record: 33; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
CFTR	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)
AFATINIB	4	BLK
FEDRATINIB	4	BLK
AXITINIB	4	BLK
SORAFENIB	4	BLK
NERATINIB	4	BLK
IBRUTINIB	4	BLK
ENTRECTINIB	4	BLK
BELUMOSUDIL	4	BLK
AFATINIB DIMALEATE	4	BLK
VANDETANIB	4	BLK
NILOTINIB	4	BLK
BOSUTINIB	4	BLK
BRIGATINIB	4	BLK
ACALABRUTINIB	4	BLK
ZANUBRUTINIB	4	BLK
TIRABRUTINIB	4	BLK
RITLECITINIB	4	BLK
PAZOPANIB	4	BLK
NINTEDANIB	4	BLK
SUNITINIB	4	BLK
DASATINIB	4	BLK
ERLOTINIB	4	BLK
QUIZARTINIB	4	BLK
CRIZOTINIB	4	BLK
MIDOSTAURIN	4	BLK
GEFITINIB	4	BLK
IMATINIB	4	BLK
IVACAFTOR	4	CFTR
LUMACAFTOR	4	CFTR
TEZACAFTOR	4	CFTR

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	BLK, CFTR
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	ALDH1A2
D	Druggable family + AlphaFold only, no drug	3	IKBIP, PRSS55, MSRA
E	Difficult family or no structure, no drug	28	MSR1, CTHRC1, SLC12A6, TBX5, TMOD1, ASZ1, LINC00208, RP1L1, CRTC1, KHDRBS2 (+18 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
MSR1	1	—
CTHRC1	0	—
SLC12A6	0	—
TBX5	1	—
TMOD1	0	—
ASZ1	0	—
ALDH1A2	32	—
LINC00208	0	—
RP1L1	0	—
CRTC1	0	—
KHDRBS2	0	—
AGO3	0	—
SATB2	6	—
TPPP	0	—
ASCC1	0	—
VPS35L	0	—
CEP72	0	—
LDAH	0	—
IKBIP	0	—
SLFN11	6	—
DPYSL2	3	—
PRSS55	0	—
MTRNR2L9	0	—
FOXF1	0	—
FOXP1	0	—
LSP1P3	0	—
GDF7	0	—
APOB	1	—
LMO3	0	—
MGST1	3	—

Clinical trials & evidence

Clinical trials

Clinical trials: 269.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	219
PHASE2	16
PHASE1	12
PHASE4	11
EARLY_PHASE1	6
PHASE3	3
PHASE2/PHASE3	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00352261	PHASE4	COMPLETED	An Open Label pH Comparison of Esomeprazole and Lansoprazole in Barrett’s Esophagus Patients
NCT00526786	PHASE4	TERMINATED	Study of CryoSpray Ablation of Low Grade or High Grade Dysplasia Within Barrett’s Esophagus
NCT00628784	PHASE4	UNKNOWN	Endoesophageal Cryotherapy For Ablating Barrett’s Esophagus and Early Stage Esophageal Cancer
NCT00637559	PHASE4	COMPLETED	Barrett’s Esophagus - 315 - 3 Way Cross-Over
NCT00637988	PHASE4	COMPLETED	Barrett’s Esophagus - 315 - 3 Way Cross Over
NCT00754468	PHASE4	COMPLETED	Study of CryoSpray Ablation(TM)to Determine Treatment Effect, Depth of Injury, and Side Effects in the Esophagus.
NCT00872755	PHASE4	COMPLETED	Nissen and Gastroplasty in Gastroesophageal Reflux Disease (GERD)
NCT01030263	PHASE4	TERMINATED	A Trial Comparing Yield of Confocal Endomicroscopy Guided Biopsies
NCT01093755	PHASE4	COMPLETED	Does Intensive Acid Suppression Reduce Esophageal Inflammation and Recurrent Barrett’s Esophagus Following Ablation?
NCT01733147	PHASE4	COMPLETED	Modulation of Esophageal Inflammation in Barrett’s Esophagus by Omega-3 Fatty Acids
NCT02004782	PHASE4	WITHDRAWN	Barretts oEsophageal Resection With Steroid Therapy Trial
NCT00487695	PHASE3	COMPLETED	Confocal Endomicroscopy for Barrett’s Esophagus
NCT00587600	PHASE2/PHASE3	COMPLETED	Biomarkers in Phototherapy of Barrett’s Esophagus
NCT01209013	PHASE3	WITHDRAWN	Safety of Photodynamic Therapy (PDT) in the Ablation of High-grade Dysplasia (HGD) in Barrett’s Esophagus (BE)
NCT01566474	PHASE3	COMPLETED	Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot Study
NCT02614703	PHASE2/PHASE3	TERMINATED	Acetic Acid Chromoendoscopy in Barrett’s Esophagus Surveillance
NCT02521285	PHASE2	ACTIVE_NOT_RECRUITING	Aspirin in Preventing Disease Recurrence in Patients With Barrett Esophagus After Successful Elimination by Radiofrequency Ablation
NCT04939051	PHASE2	RECRUITING	Obeticholic Acid for Prevention in Barrett’s Esophagus
NCT06732388	PHASE2	NOT_YET_RECRUITING	Itraconazole in Combination With Ablation for the Prevention of Esophageal Cancer in Patients With High-risk Barrett’s Esophagus
NCT07260877	PHASE2	RECRUITING	A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Phase 2a Study With an Open-Label Extension Evaluating the Efficacy and Safety of VENT-03 in Adult Participants With Active Cutaneous Lupus Erythematosus With or Without Systemic Lupus Erythematosus
NCT00217087	PHASE2	COMPLETED	Endoscopic Therapy of Early Cancer in Barretts Esophagus
NCT00220103	PHASE2	COMPLETED	Pre-operative Epirubicin, Cisplatin, and Capecitabine in Patients With Newly Diagnosed Localised Oesophageal Adenocarcinoma
NCT00411151	PHASE2	COMPLETED	Efficacy and Safety of Sunitinib in Metastatic Gastric Cancer
NCT00474903	PHASE2	COMPLETED	Esomeprazole Magnesium With or Without Aspirin in Preventing Esophageal Cancer in Patients With Barrett Esophagus
NCT01097304	PHASE2	COMPLETED	Ursodiol in Treating Patients With Barrett Esophagus and Low-Grade Dysplasia
NCT01298999	PHASE2	COMPLETED	Trial of a Gastrin Receptor Antagonist in Barrett’s Esophagus
NCT01360541	PHASE2	COMPLETED	Radiofrequency Ablation for Barrett Oesophagus With Low Grade Dysplasia
NCT01447927	PHASE2	COMPLETED	Metformin Hydrochloride in Preventing Esophageal Cancer in Patients With Barrett Esophagus
NCT02018367	PHASE2	UNKNOWN	Accuracy, Yield and Clinical Impact of a Low-Cost HRME in the Early Diagnosis of Esophageal Adenocarcinoma
NCT02162758	PHASE2	TERMINATED	Effect of Dexlansoprazole 60 mg QD and 60 mg BID on Recurrence of Intestinal Metaplasia in Subjects Who Have Achieved Complete Eradication of Barrett’s Esophagus With Radiofrequency Ablation
NCT02597712	PHASE2	COMPLETED	YF476 in Barrett’s Esophagus
NCT03877601	PHASE2	UNKNOWN	Detection of Early Esophageal Cancer by NIR-FME.
NCT00216788	PHASE1	UNKNOWN	The Effect of Nexium on Transmucosal Esophageal Leak
NCT00233935	PHASE1	COMPLETED	Defined Green Tea Catechin Extract in Preventing Esophageal Cancer in Patients With Barrett’s Esophagus
NCT00573911	PHASE1	COMPLETED	Acid Reflux and Stromal Fibroblasts in Barrett’s Esophagus
NCT01236443	PHASE1	COMPLETED	Study of Photodynamic Therapy (PDT) Using HPPH in Barrett’s Esophagus
NCT01238042	PHASE1	COMPLETED	Study To Determine The Maximum Range of Light Doses At Two HPPH Doses With Acceptable Normal Tissue Toxicity For PDT Treatment Of High Grade Dysplasia,CIS or Early Adenocarcinoma In Barrett’s Esophagus
NCT01391208	PHASE1	COMPLETED	Esophageal Protocol for Detection of Neoplasia in the Digestive Tract
NCT01630798	PHASE1	COMPLETED	A In-Vivo Esophageal Protocol for Detection of Neoplasia in the Digestive Tract
NCT01905202	PHASE1	UNKNOWN	The Safety and Tolerability of Secretrol in Patients With Barrett’s Esophagus

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ESOMEPRAZOLE	4	10
ENALAPRIL	4	3
DEXLANSOPRAZOLE	4	2
OMEPRAZOLE	4	2
ACETIC ACID	4	1
ASPIRIN	4	1
FLUORESCEIN	4	1
ITRACONAZOLE	4	1
LANSOPRAZOLE	4	1
LINACLOTIDE	4	1
MELATONIN	4	1
METFORMIN	4	1
OBETICHOLIC ACID	4	1
PLECANATIDE	4	1
PREDNISOLONE	4	1
ROFECOXIB	4	1
URSODIOL	4	1
CANDESARTAN	3	1
PROFLAVINE	2	8
HPPH	2	2
NETAZEPIDE	2	2
CPG-52852	2	1
GI HEPTAPEPTIDE	1	2
CHEMBL5282669	0	1
CHEMBL4303680	0	1
CHEMBL5197244	0	1
CHEMBL5412701	0	1
CHEMBL177756	0	1
CHEMBL1628	0	1
HYOSCYAMINE	-1	1

Cohort genes: MSR1, CTHRC1, BLK, SLC12A6, TBX5, TMOD1, ASZ1, ALDH1A2, LINC00208, RP1L1, CRTC1, KHDRBS2, AGO3, CFTR, SATB2, TPPP, ASCC1, VPS35L, CEP72, LDAH, IKBIP, SLFN11, DPYSL2, PRSS55, FOXF1, FOXP1, GDF7, APOB, LMO3, MGST1, MSRA, BARX1
Drugs: Esomeprazole, Enalapril, Dexlansoprazole, Omeprazole, Acetic Acid, Aspirin, Fluorescein, Itraconazole, Lansoprazole, Linaclotide, Melatonin, Metformin, Obeticholic Acid, Plecanatide, Prednisolone, Rofecoxib, Ursodiol, Candesartan, CHEMBL1628, Hyoscyamine