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BE
MCID: BRR014
MIFTS: 66

Barrett Esophagus (BE)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Barrett Esophagus

About this section

MalaCards integrated aliases for Barrett Esophagus:

Name: Barrett Esophagus 57 12 20 73 36 29 54 44 39 71
Barrett's Esophagus 12 20 15 17
Barrett Esophagus/esophageal Adenocarcinoma 57 13 6
Barrett's Ulcer of Esophagus 12 71
Esophageal Adenocarcinoma 58 17
Ulcerative Esophagitis 12 71
Barrett Metaplasia 57 73
Barrett Syndrome 74 20
Chronic Peptic Ulcer and Esophagitis Syndrome 20
Barrett's Esophagus with Esophagitis 12
Adenocarcinoma of the Esophagus 58
Adenocarcinoma of Esophagus 71
Peptic Ulcer of Esophagus 71
Esophagitis-Peptic Ulcer 20
Columnar-Like Esophagus 20
Barrett's Oesophagus 12
Barretts Syndrome 12
Barrett Ulcer 20
Be 73

Characteristics:

Orphanet epidemiological data:

58
adenocarcinoma of the esophagus
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Worldwide); Age of onset: Adult; Age of death: adult;

HPO:

31
barrett esophagus:
Inheritance somatic mutation


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:9206
OMIM® 57 614266
KEGG 36 H01901
ICD9CM 34 530.85
MeSH 44 D001471
NCIt 50 C2891
SNOMED-CT 67 302914006
ICD10 32 K22.7
ICD10 via Orphanet 33 C15.2 C15.5
UMLS via Orphanet 72 C0279628
Orphanet 58 ORPHA99976
UMLS 71 C0004763 C0267075 C0279628 more
Sources

Summaries for Barrett Esophagus

About this section
KEGG : 36 Barrett esophagus (BE) is the premalignant lesion of esophageal adenocarcinoma (EAC) defined as specialized intestinal metaplasia (SIM) of the tubular esophagus. According to some studies, the incidence of the esophageal adenocarcinoma in patients with BE is of about 0.5% per year. The major pathogenetic factor in the development of BE is represented by the gastroesophageal reflux disease. BE is characterized by the replacement of the normal squamous epithelium with the columnar epithelium, when the healing of the lesion occurs. Because only a minority of patients (around 10-15%) with gastroesophageal reflux disease have BE, additional factors that play important roles in determining the development of BE must concur. Another frequent association with BE, is represented by nitrate, an increased age, Caucasian race, male sex and hiatal hernia. Recently, it has been reported that mutations in MSR1, ASCC1, and CTHRC1 are associated with this disease.

MalaCards based summary : Barrett Esophagus, also known as barrett's esophagus, is related to esophageal cancer and gastroesophageal reflux. An important gene associated with Barrett Esophagus is ASCC1 (Activating Signal Cointegrator 1 Complex Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Endometrial cancer. The drugs Aspirin and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include small intestine, liver and colon, and related phenotypes are gastroesophageal reflux and feeding difficulties in infancy

GARD : 20 Barrett esophagus is a condition in which the lining of the esophagus (the tube that carries food from the throat to the stomach) is replaced by tissue that is similar to the lining of the intestines. Although this change does not cause any specific signs or symptoms, it is typically diagnosed in people who have long-term gastroesophageal reflux disease (GERD). The exact underlying cause of Barrett esophagus is not known; however, it generally occurs sporadically in people with no family history of the condition. Treatment varies by the severity of the condition and generally includes medications and life style modifications to ease the symptoms of GERD. Endoscopic or surgical treatments may be recommended in people with severe cases.

OMIM® : 57 Barrett esophagus, or Barrett metaplasia, describes the phenotypic change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. This metaplastic change is important because patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett metaplasia is gastroesophageal reflux (GER; 109350). The retrograde movement of acid and bile salts from the stomach into the esophagus in this disease causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes (summary by Wong et al., 2005). (614266) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Barrett esophagus: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.

Wikipedia : 74 Barrett's esophagus is a condition in which there is an abnormal (metaplastic) change in the mucosal... more...

Sources

Related Diseases for Barrett Esophagus

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Diseases related to Barrett Esophagus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 665)
# Related Disease Score Top Affiliating Genes
1 esophageal cancer 32.0 TP53 SMAD4 PTGS2 MYC ERBB2 CDX2
2 gastroesophageal reflux 31.8 TP53 PTGS2 MSR1 GPX7 CTHRC1 CDX2
3 peptic ulcer disease 31.3 TP53 PTGS2 MUC5AC
4 adenocarcinoma in situ 31.2 KRT7 CDX2 CDKN2A
5 adenocarcinoma 31.1 TP53 SMAD4 PTGS2 MYC MSR1 KRT7
6 adenosquamous carcinoma 31.1 TP53 SMAD4 KRT7
7 bile reflux 31.0 PTGS2 MUC5AC CDX2
8 barrett's adenocarcinoma 31.0 TP53 PTGS2 ERBB2 CDKN2A
9 gastritis 31.0 TP53 PTGS2 MUC6 CDX2
10 familial adenomatous polyposis 30.9 TP53 SMAD4 PTGS2 MYC CCND1 APC
11 colorectal adenoma 30.9 TP53 PTGS2 MYC CDKN2A CCND1 APC
12 squamous cell papilloma 30.9 TP53 CDKN2A
13 adenoma 30.8 TP53 SMAD4 PTGS2 MUC6 MUC5AC MKI67
14 papilloma 30.8 TP53 PTGS2 KRT7 ERBB2 CDKN2A CCND1
15 squamous cell carcinoma 30.7 TP53 SMAD4 PTGS2 MYC MKI67 KRT7
16 esophagus adenocarcinoma 30.7 TP53 PTGS2 MYC ERBB2 CDX2 CDKN2A
17 microinvasive gastric cancer 30.7 TP53 MUC6 MUC5AC ERBB2 CDX2
18 megaesophagus 30.7 TP53 MYC CDKN2A
19 signet ring cell adenocarcinoma 30.6 TP53 MUC6 MUC5AC MUC2 KRT7 ERBB2
20 necrotizing sialometaplasia 30.6 TP53 MKI67 KRT7
21 basaloid squamous cell carcinoma 30.6 TP53 KRT7 CDKN2A
22 papillary adenocarcinoma 30.6 TP53 KRT7 ERBB2
23 appendix adenocarcinoma 30.6 KRT7 CDX2
24 carcinosarcoma 30.6 TP53 KRT7 ERBB2 CDKN2A
25 bowen's disease 30.6 MKI67 KRT7
26 small cell carcinoma 30.5 TP53 KRT7 ERBB2 CDX2 CDKN2A
27 mantle cell lymphoma 30.5 TP53 MYC CDKN2A CCND1
28 tubular adenocarcinoma 30.5 MUC5AC MUC2 KRT7 ERBB2 CDX2
29 atrophic gastritis 30.5 TP53 PTGS2 MUC6 CDX2
30 actinic keratosis 30.5 TP53 PTGS2 MYC CDKN2A
31 teratoma 30.5 TP53 MUC5AC KRT7 CDX2 CDKN2A
32 in situ carcinoma 30.5 TP53 MYC ERBB2 CDKN2A CCND1
33 retinitis pigmentosa 11 30.5 TP53 MYC ERBB2 CDKN2A
34 adenoid cystic carcinoma 30.5 TP53 MYC KRT7 ERBB2 CDKN2A CCND1
35 pre-malignant neoplasm 30.4 TP53 MYC ERBB2 CDKN2A CCND1
36 lynch syndrome 30.4 TP53 SMAD4 MUC2 CDKN2A CCND1 APC
37 b-cell lymphoma 30.4 TP53 MYC MKI67 CDKN2A CCND1
38 apocrine adenocarcinoma 30.4 TP53 KRT7 ERBB2
39 basal cell carcinoma 30.4 TP53 PTGS2 MKI67 KRT7 CDKN2A CCND1
40 oropharynx cancer 30.4 TP53 KRT7 ERBB2 CDKN2A CCND1 APC
41 villous adenoma 30.4 TP53 MUC6 MUC5AC KRT7 CDX2 APC
42 colonic benign neoplasm 30.4 TP53 PTGS2 MYC CDX2 CCND1 APC
43 neurofibroma 30.3 TP53 ERBB2 CDKN2A
44 mucinous adenocarcinoma 30.3 TP53 MUC5AC KRT7 ERBB2 CDX2 CDKN2A
45 liposarcoma 30.3 TP53 MYC CDKN2A CCND1
46 hepatoblastoma 30.3 TP53 MYC KRT7 CCND1 APC
47 peripheral nervous system disease 30.3 TP53 PTGS2 MYC ERBB2 CDKN2A CCND1
48 diffuse large b-cell lymphoma 30.3 TP53 MYC CDKN2A CCND1
49 bladder adenocarcinoma 30.2 MKI67 KRT7 ERBB2 CDX2 AMACR
50 intrahepatic cholangiocarcinoma 30.2 TP53 SMAD4 MUC5AC KRT7 ERBB2 CDX2

Graphical network of the top 20 diseases related to Barrett Esophagus:



Diseases related to Barrett Esophagus
Sources

Symptoms & Phenotypes for Barrett Esophagus

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Human phenotypes related to Barrett Esophagus:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
4 clinodactyly of the 5th toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001864
5 barrett esophagus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100580
6 esophageal carcinoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0011459
7 esophageal ulceration 31 hallmark (90%) HP:0004791
8 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
9 cough 58 31 frequent (33%) Frequent (79-30%) HP:0012735
10 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
11 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716

Clinical features from OMIM®:

614266 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Barrett Esophagus:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 APC CCND1 CDKN2A CDX2 CTHRC1 ERBB2
2 homeostasis/metabolism MP:0005376 10.4 AMACR APC CCND1 CDKN2A CDX2 CTHRC1
3 cardiovascular system MP:0005385 10.38 APC CCND1 CDKN2A CDX2 ERBB2 GPX7
4 digestive/alimentary MP:0005381 10.33 APC CCND1 CDKN2A CDX2 ERBB2 GPX7
5 growth/size/body region MP:0005378 10.32 AMACR APC ASCC1 CCND1 CDKN2A CDX2
6 mortality/aging MP:0010768 10.28 AMACR APC ASCC1 CCND1 CDKN2A CDX2
7 immune system MP:0005387 10.26 APC CCND1 CDKN2A GPX7 MSR1 MUC2
8 embryo MP:0005380 10.24 APC ASCC1 CDKN2A CDX2 CTHRC1 ERBB2
9 endocrine/exocrine gland MP:0005379 10.22 APC CCND1 CDKN2A CDX2 ERBB2 MUC2
10 liver/biliary system MP:0005370 10.13 AMACR APC CDKN2A CTHRC1 GPX7 MYC
11 integument MP:0010771 10.11 APC CCND1 CDKN2A ERBB2 MYC PTGS2
12 neoplasm MP:0002006 10.1 APC CCND1 CDKN2A CDX2 ERBB2 GPX7
13 nervous system MP:0003631 10.03 APC CCND1 CDKN2A CTHRC1 ERBB2 GPX7
14 muscle MP:0005369 10.02 APC CDKN2A CTHRC1 ERBB2 MYC PTGS2
15 normal MP:0002873 9.85 APC CCND1 CDX2 CTHRC1 ERBB2 MKI67
16 reproductive system MP:0005389 9.65 APC CCND1 CDKN2A CDX2 ERBB2 MYC
17 skeleton MP:0005390 9.32 APC CCND1 CDKN2A CDX2 CTHRC1 ERBB2
Sources

Drugs & Therapeutics for Barrett Esophagus

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Drugs for Barrett Esophagus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 235)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
4
Dinoprostone Approved Phase 4 363-24-6 5280360
5
Phenylephrine Approved Phase 4 59-42-7 6041
6
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
11
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
13 Liver Extracts Phase 4
14 Cyclooxygenase 2 Inhibitors Phase 4
15 Antirheumatic Agents Phase 4
16 Cyclooxygenase Inhibitors Phase 4
17 Analgesics, Non-Narcotic Phase 4
18 Analgesics Phase 4
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Fibrinolytic Agents Phase 4
21 Platelet Aggregation Inhibitors Phase 4
22 Antipyretics Phase 4
23 Hormones Phase 4
24 Calcium, Dietary Phase 4
25 Folfirinox Phase 4
26 Omega 3 Fatty Acid Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Hormone Antagonists Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Methylprednisolone Acetate Phase 4
31 glucocorticoids Phase 4
32
Calcium Nutraceutical Phase 4 7440-70-2 271
33
Carboplatin Approved Phase 2, Phase 3 41575-94-4 10339178 498142 38904
34
Ipilimumab Approved Phase 2, Phase 3 477202-00-9
35
Trastuzumab Approved, Investigational Phase 3 180288-69-1 9903
36
acetic acid Approved Phase 2, Phase 3 64-19-7 176
37
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
38
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 68-26-8, 11103-57-4 445354
39 Dermatologic Agents Phase 3
40 Ether Phase 3
41 Photosensitizing Agents Phase 3
42 Hematoporphyrins Phase 3
43 Vaccines Phase 3
44 Hematoporphyrin Derivative Phase 2, Phase 3
45 Antioxidants Phase 3
46 Hematinics Phase 3
47 Immunoglobulins Phase 3
48 Antibodies Phase 3
49 Antibodies, Monoclonal Phase 3
50 Immunoglobulins, Intravenous Phase 3

Interventional clinical trials:

(show top 50) (show all 447)
# Name Status NCT ID Phase Drugs
1 Clinical and Medico-economic Evaluation of Radiofrequency Ablation Versus Oesophagectomy in the Treatment of High Grade Dysplasia in Barrett's Oesophagus Unknown status NCT02558504 Phase 4
2 Endoesophageal Cryotherapy: A New Technique For Ablating Barrett's Esophagus And Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
3 An Open-Label, 2-Way Crossover Study of Steady-State Intragastric pH Control Comparing 2 Dosage Regimens of Esomeprazole and Lansoprazole in Barrett's Esophagus Patients Completed NCT00352261 Phase 4 Esomeprazole;Lansoprazole
4 A Multicenter, Open-label, Four-way Crossover Study of the Effects of Esomeprazole, Aspirin and Rofecoxib on Prostaglandin (PGE2) Production, Cyclooxygenase-2 Enzyme Activity and PCNA Expression in Patients With Barrett's Esophagus Completed NCT00637988 Phase 4 Esomeprazole;Aspirin;Rofecoxib
5 A Multicenter, Double-blind, Three-way Crossover Intraesophageal and Intragastric pH Study of Three Esomeprazole Treatment Regimens in Documented Barrett's Esophagus Patients Completed NCT00637559 Phase 4 Esomeprazole Magnesium
6 A STUDY OF CRYOSPRAY ABLATIONTM USING SURGICAL RESECTION SPECIMENS TO DETERMINE TREATMENT EFFECT, DEPTH OF INJURY, AND SIDE EFFECTS IN THE ESOPHAGUS (CSA Depth 3) Completed NCT00754468 Phase 4
7 Does Intensive Acid Suppression Reduce Esophageal Inflammation and Recurrent Barrett's Esophagus Following Ablation?: A Randomized Controlled Trial Completed NCT01093755 Phase 4 dexlansoprazole;Omeprazole
8 Laparoscopic Nissen Fundoplication Combined With Posterior Gastropexy in Surgical Treatment of Gastroesophageal Reflux Disease Completed NCT00872755 Phase 4
9 PERIOP-FOLFIRINOX: A Pilot Trial of Perioperative Genotype-guided Irinotecan Dosing of gFOLFIRINOX for Locally Advanced Gastroesophageal Adenocarcinoma Recruiting NCT02366819 Phase 4 Oxaliplatin;Leucovorin Calcium;Irinotecan Hydrochloride;Fluorouracil
10 Modulation of Esophageal Inflammation in Barrett&Apos;s Esophagus by Omega-3 Fatty Acids, a Double Blind Placebo Controlled Randomized Pilot Study Active, not recruiting NCT01733147 Phase 4 Omega-3 free fatty acids;Placebo
11 Reduction in Symptomatic Oesophageal Stricture Formation Post-two Stage Complete Barrett's Excision for High Grade Dysplasia or Early Adenocarcinoma With Short-term Steroid Therapy: A Randomized, Doubleblind, Placebo-controlled, Multicentre Trial. Not yet recruiting NCT02004782 Phase 4 Prednisolone;Placebo Oral Tablet
12 A Prospective Randomized Trial Comparing Yield of Confocal Endomicroscopy Guided Biopsies With Random Biopsies in the Detection of Specialized Columnar Epithelium in Barrett's Esophagus Terminated NCT01030263 Phase 4
13 A Prospective, Multi-center, Longitudinal Cohort Study of CryoSpray Ablation of Low Grade or High Grade Dysplasia Within Barrett's Esophagus (LCS Dysplasia) Terminated NCT00526786 Phase 4
14 A PROSPECTIVE RANDOMISED NON SURGICAL TREATMENT OF OESOPHAGEAL CANCER WITH COMBINED CHEMOTHERAPY AND EXTERNAL BEAM IRRADIATION WITH VS WITHOUT HIGH-DOSE BRACHYTHERAPY Unknown status NCT00002884 Phase 3 chemotherapy;cisplatin;fluorouracil
15 A PROSPECTIVE RANDOMISED TRIAL OF INDUCTION CHEMOTHERAPY WITH 5-FU CONTINUOUS IV INFUSION AND CISPLATIN VERSUS SURGERY IN RESECTABLE ADENOCARCINOMA OF THE LOW THIRD OF THE ESOPHAGUS AND CARDIOESOPHAGEAL JUNCTION Unknown status NCT00002883 Phase 3 cisplatin;fluorouracil
16 A Prospective Randomized Trial Comparing Standard Chemotherapy Followed By Resection Versus Infusional Chemotherapy In Patients With Resectable Adenocarcinoma Of The Oesophagus Unknown status NCT00041262 Phase 3 cisplatin;epirubicin hydrochloride;fluorouracil
17 A Randomised Phase II/III Multi-Centre Clinical Trial of Definitive Chemotherapy, With or Without Cetuximab, in Carcinoma of the Oesophagus Unknown status NCT00509561 Phase 2, Phase 3 capecitabine;cisplatin
18 A Phase III, Randomized, Study of Aspirin and Esomeprazole Chemoprevention in Barrett's Metaplasia Unknown status NCT00357682 Phase 3 Esomeprazole;Esomeprazole;Aspirin
19 Two-arm Phase III Trial Comparing Different Time of Endoscopic Photodynamic Therapy on Esophageal and/or Gastric Cardiac Cancer Unknown status NCT02628665 Phase 3 photosensitizer(photofrin)
20 Phase III Randomized, Double-Blind, Placebo-Controlled Trial of Gefitinib (Iressa®) Versus Placebo in Esophageal Cancer Progressing After Chemotherapy Completed NCT01243398 Phase 3
21 Phase III Intergroup Trial of Adjuvant Chemoradiation After Resection of Gastric or Gastroesophageal Adenocarcinoma Completed NCT00052910 Phase 3 cisplatin;epirubicin hydrochloride;fluorouracil;leucovorin calcium
22 A PHASE III INTERGROUP RANDOMIZED COMPARISON OF COMBINED MODALITY THERAPY FOR CARCINOMA OF THE ESOPHAGUS: HIGH-DOSE VS CONVENTIONAL-DOSE RADIATION THERAPY Completed NCT00002631 Phase 3 chemotherapy;cisplatin;fluorouracil
23 Multimodal Therapy With and Without Cetuximab in Patients With Locally Advanced Esophageal Carcinoma - An Open-Label Phase III Trial Completed NCT01107639 Phase 3 cisplatin;docetaxel
24 Randomized Study of Pre-Operative Radio-Chemotherapy Versus Surgery Alone in Thoracic Esophageal Cancer Deemed to be Resectable Completed NCT00047112 Phase 3 cisplatin;fluorouracil
25 An Open Label, Sequential Multi-Center Multi Dose Study Of G17T Immunogen In Combination With Cisplatin (CDDP) And 5-Fluorouracil (5-FU) In Subjects With Metastatic Or Locally Recurrent Gastric Or Gastroesophageal Cancer Previously Untreated With Chemotherapy For Advanced Disease (Stage IV) Completed NCT00020787 Phase 3 cisplatin;fluorouracil
26 A Prospective Randomized Phase III Trial Comparing Trimodality Therapy (Cisplatin, 5-FU, Radiotherapy, and Surgery) to Surgery Alone for Esophageal Cancer Completed NCT00003118 Phase 3 cisplatin;fluorouracil
27 Randomised Phase III Study of Docetaxel vs Active Symptom Control in Patients With Relapsed Oesophago-gastric Adenocarcinoma Completed NCT00978549 Phase 3 docetaxel;steroid therapy
28 Phase II-III Study Comparing Radiochemotherapy With the FOLFOX Regimen Versus Radiochemotherapy With 5FU-cisplatin (Herskovic Regimen) in First Line Treatment of Patients With Inoperable Oesophageal Cancer. Completed NCT00861094 Phase 2, Phase 3 cisplatin;5-FU;oxaliplatin;Folinic Acid
29 Melatonin Associated to Acid Inhibition for Chemoprevention in Barret Esophagus: a Pilot Study Completed NCT01566474 Phase 3 Omeprazole;Melatonin
30 Biomarkers in Phototherapy of Barrett's Esophagus Completed NCT00587600 Phase 2, Phase 3
31 Confocal Laser Endomicroscopy for Improved Diagnosis of Barrett's Esophagus and Associated Neoplasia Completed NCT00487695 Phase 3
32 Phase III Randomized Trial of Proton Beam Therapy (PBT) Versus Intensity Modulated Photon Radiotherapy (IMRT) for the Treatment of Esophageal Cancer Recruiting NCT03801876 Phase 3 Carboplatin;Paclitaxel
33 A Phase III Study of Consolidative Radiotherapy in Patients With Oligometastatic HER2 Negative Esophageal and Gastric Adenocarcinoma (EGA) Recruiting NCT04248452 Phase 3 Capecitabine;Fluorouracil;Leucovorin;Leucovorin Calcium;Oxaliplatin
34 A Phase II/III Study of Peri-Operative Nivolumab and Ipilimumab in Patients With Locoregional Esophageal and Gastroesophageal Junction Adenocarcinoma Recruiting NCT03604991 Phase 2, Phase 3 Carboplatin;Paclitaxel
35 Perioperative Chemotherapy (FLOT Protocol) Compared To Neoadjuvant Chemoradiation (CROSS Protocol) in Patients With Adenocarcinoma of the Esophagus Active, not recruiting NCT02509286 Phase 3 5-Fluorouracil;Leucovorin;Oxaliplatin;Docetaxel;Carboplatin;Paclitaxel
36 A Phase III Trial Evaluating the Addition of Trastuzumab to Trimodality Treatment of HER2-Overexpressing Esophageal Adenocarcinoma Active, not recruiting NCT01196390 Phase 3 Carboplatin;Paclitaxel
37 Nutritional Supplementation for Esophageal Cancer Patients Undergoing Trimodality Therapy Not yet recruiting NCT04029857 Phase 3
38 "Acetic Acid Chromoendoscopy in Barrett's Esophagus Surveillance is Superior to the Standardized Random Biopsy Protocol in Detecting Neoplasia: A Prospective Randomized Study" Terminated NCT02614703 Phase 2, Phase 3 Chromoendoscopy using Acetic Acid 2.5%
39 Multicenter, Prospective, Open-label, Single-arm Phase IIIb/IV Clinical Study on the Safety of Photodynamic Therapy With Porfimer Sodium for Injection for the Ablation of High-grade Dysplasia in Barrett's Esophagus Withdrawn NCT01209013 Phase 3
40 Screening for Barrett's Esophagus With an Ultrathin Scanning Fiber Endoscope Unknown status NCT00903136 Phase 1, Phase 2
41 A Phase II Trial of Paclitaxel (TAXOL) Administered as a Weekly One Hour Infusion in Patients With Advanced Esophageal Cancer Unknown status NCT00003326 Phase 2 paclitaxel
42 A Phase II Study of RFS 2000 (Rubitecan, 9-Nitro-Camptothecin, 9-NC) in Patients With Advanced Gastric Carcinoma Unknown status NCT00005876 Phase 2 rubitecan
43 A Phase II Study of CPT-11 and 5-FU/LCV in Patients With Previously Untreated Gastric Adenocarcinoma Unknown status NCT00005607 Phase 2 FOLFIRI regimen;fluorouracil;irinotecan hydrochloride;leucovorin calcium
44 A Phase II Study of Caelyx in the Treatment of Advanced Gastric Cancer Unknown status NCT00004236 Phase 2 pegylated liposomal doxorubicin hydrochloride
45 A Safety and Efficacy Trial of Circumferential Anal Canal Radiofrequency Ablation for High-Grade Anal Intraepithelial Neoplasia Using the BARRXâ„¢ Anorectal Wand Unknown status NCT03302858 Phase 2
46 Randomized, Placebo-controlled Trial of YF476, a Gastrin Receptor Antagonist, in Barrett's Esophagus Unknown status NCT02597712 Phase 2 YF476;YF476 placebo
47 A Phase Ib/II Study of MBP-426 in Patients With Second Line Gastric, Gastro Esophageal, or Esophageal Adenocarcinoma Unknown status NCT00964080 Phase 1, Phase 2 MBP-426/Leucovorin/5-FU
48 Phase II Trial of Cetuximab, Irinotecan, Cisplatin (CPC), Concurrent Radiation Therapy, and Surgery for Resectable Esophageal Cancer Completed NCT00165490 Phase 2 Cetuximab;Cisplatin;Irinotecan
49 A Phase II Study of Vinorelbine in Unresectable or Metastatic Esophageal and Gastric Adenocarcinoma Completed NCT00215462 Phase 2 Vinorelbine
50 A Phase II Study of HPPH Photodynamic Therapy for Treatment of High Grade Dysplasia, Carcinoma In-Situ or Early Intramucosal Adenocarcinoma in Barrett's Esophagus. Randomization to Two PDT Treatment Regimens of HPPH (2-1 [Hexyloxyethyl]-2devinylpyropheophorbide-a) and Light Completed NCT00281736 Phase 2 HPPH

Search NIH Clinical Center for Barrett Esophagus

Cochrane evidence based reviews: barrett esophagus

Sources

Genetic Tests for Barrett Esophagus

About this section

Genetic tests related to Barrett Esophagus:

# Genetic test Affiliating Genes
1 Barrett Esophagus 29 ASCC1 CTHRC1 MSR1
Sources

Anatomical Context for Barrett Esophagus

About this section

MalaCards organs/tissues related to Barrett Esophagus:

40
Small Intestine, Liver, Colon, Bone, Skin, Lymph Node, T Cells
Sources

Publications for Barrett Esophagus

About this section

Articles related to Barrett Esophagus:

(show top 50) (show all 7157)
# Title Authors PMID Year
1
Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma. 6 57 61
21791690 2011
2
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. 57 61
22961001 2012
3
Barrett's esophagus and adenocarcinoma: from the family to the gene. 57 61
1551552 1992
4
Familial Barrett's esophagus associated with adenocarcinoma. 57 61
1551547 1992
5
Familial gastroesophageal reflux and development of Barrett's esophagus. 61 57
4003988 1985
6
Barrett's esophagus: inherited epithelium or inherited reflux? 57 61
6886360 1983
7
Barrett esophagus in sexagenarian identical twins. 57 61
6683290 1983
8
Barrett's esophagus: a review. 61 57
6337489 1983
9
CDX1 is an important molecular mediator of Barrett's metaplasia. 57
15894614 2005
10
Demographic and phenotypic features of 70 families segregating Barrett's oesophagus and oesophageal adenocarcinoma. 57
12960209 2003
11
Symptomatic gastroesophageal reflux as a risk factor for esophageal adenocarcinoma. 57
10080844 1999
12
Familial Barrett's oesophagus? 57
3721391 1986
13
Columnar cell-lined esophagus: assessment of etiology and treatment. A 22 year experience. 57
1271833 1976
14
The columnar-lined esophagus (Barrett syndrome)--an acquired condition? 57
5935228 1966
15
The oesophagus lined with gastric mucous membrane. 57
13077502 1953
16
Chronic peptic ulcer of the oesophagus and 'oesophagitis'. 57
14791960 1950
17
Aberrant epithelial-mesenchymal Hedgehog signaling characterizes Barrett's metaplasia. 61 54
20138038 2010
18
The role of oxidative DNA damage, DNA repair, GSTM1, SOD2 and OGG1 polymorphisms in individual susceptibility to Barrett's esophagus. 54 61
20056743 2010
19
Colocalization of MnSOD expression in response to oxidative stress. 61 54
19623544 2010
20
Expression of resistin-like molecule beta in gastric cancer: its relationship with clinicopathological parameters and prognosis. 61 54
19967544 2010
21
Preoperative gastric acid secretion and the risk to develop Barrett's esophagus after esophagectomy for chagasic achalasia. 54 61
19756883 2009
22
Aneuploidy and overexpression of Ki67 and p53 as markers for neoplastic progression in Barrett's esophagus: a case-control study. 54 61
19638963 2009
23
Regulation of CDX2 expression in esophageal adenocarcinoma. 61 54
19415720 2009
24
Adenocarcinoma of the esophagogastric junction: relationship between clinicopathological data and p53, cyclin D1 and Bcl-2 immunoexpressions. 54 61
20232013 2009
25
Pathogenesis of Barrett's esophagus: bile acids inhibit the Notch signaling pathway with induction of CDX2 gene expression in human esophageal cells. 61 54
19789031 2009
26
Inhibition of nucleostemin upregulates CDX2 expression in HT29 cells in response to bile acid exposure: implications in the pathogenesis of Barrett's esophagus. 54 61
19449081 2009
27
Increased p53 expression in the malignant transformation of Barrett's esophagus is accompanied by an upward shift of the proliferative compartment. 54 61
18752044 2009
28
Keratin 7 expression as an early marker of reflux-related columnar mucosa without intestinal metaplasia in the esophagus. 61 54
19396034 2009
29
Immunoreactivity of cytokeratins 7 and 20 in goblet cells and columnar blue cells in patients with endoscopic evidence of Barrett's esophagus. 61 54
19578614 2009
30
Silencing of MGMT expression by promoter hypermethylation in the metaplasia-dysplasia-carcinoma sequence of Barrett's esophagus. 54 61
19027227 2009
31
Bile acid alone, or in combination with acid, induces CDX2 expression through activation of the epidermal growth factor receptor (EGFR). 54 61
18854960 2009
32
P53 and Ki-67 overexpression in gastroesophageal reflux disease--Barrett's esophagus and adenocarcinoma sequence. 61 54
19302208 2009
33
What is the clinical significance of stromal angiogenesis in Barrett's esophagus? 54 61
19120900 2008
34
The effect of retinoic acid and deoxycholic acid on the differentiation of primary human esophageal keratinocytes. 61 54
18368492 2008
35
Cell proliferation, cell cycle abnormalities, and cancer outcome in patients with Barrett's esophagus: a long-term prospective study. 54 61
18980994 2008
36
Helicobacter pylori and non-malignant diseases. 61 54
18783518 2008
37
p16, cyclin D1, Ki-67, and AMACR as markers for dysplasia in Barrett esophagus. 61 54
18665038 2008
38
Inducible nitric oxide synthase, nitrotyrosine and p53 mutations in the molecular pathogenesis of Barrett's esophagus and esophageal adenocarcinoma. 54 61
17849424 2008
39
CDX2 and villin are useful markers of intestinal metaplasia in the diagnosis of Barrett esophagus. 61 54
18343784 2008
40
Barrett's esophagus and cardiac intestinal metaplasia: two conditions within the same spectrum. 54 61
18414711 2008
41
Cyclooxygenase-2 and inducible nitric oxide synthase gene polymorphisms and risk of reflux esophagitis, Barrett's esophagus, and esophageal adenocarcinoma. 54 61
18349295 2008
42
REG Ialpha protein expression in Barrett's esophagus. 54 61
18289358 2008
43
p16 mutation spectrum in the premalignant condition Barrett's esophagus. 54 61
19043591 2008
44
Cytokeratin and CDX-2 expression in Barrett's esophagus. 61 54
18224560 2008
45
Photodynamic therapy of Barrett's esophagus: ablation of Barrett's mucosa and reduction in p53 protein expression after treatment. 61 54
18383889 2008
46
Aneuploidy and high expression of p53 and Ki67 is associated with neoplastic progression in Barrett esophagus. 61 54
18334729 2008
47
p53 in esophageal adenocarcinoma: a critical reassessment of mutation frequency and identification of 72Arg as the dominant allele. 54 61
17982662 2007
48
Over-expression of cyclooxygenase-2 in endoscopic biopsies of ectopic gastric mucosa. 54 61
17934641 2007
49
COX-2 mRNA expression is significantly increased in acid-exposed compared to nonexposed squamous epithelium in gastroesophageal reflux disease. 61 54
17619937 2007
50
Molecular analysis of the p53 gene in patients with intestinal metaplasia of the cardia and Barrett's esophagus: characterization by sequencing. 61 54
17404881 2007
Sources

Variations for Barrett Esophagus

About this section

ClinVar genetic disease variations for Barrett Esophagus:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTHRC1 NM_138455.4(CTHRC1):c.131A>C (p.Gln44Pro) SNV Pathogenic 30848 rs387907029 8:104384015-104384015 8:103371787-103371787
2 MSR1 NM_138715.3(MSR1):c.760C>G (p.Leu254Val) SNV Pathogenic 29779 rs387906645 8:16021631-16021631 8:16164122-16164122
3 ASCC1 NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) SNV Pathogenic 31129 rs146370051 10:73892817-73892817 10:72133059-72133059

Copy number variations for Barrett Esophagus from CNVD:

7 (show top 50) (show all 157)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 18052 1 143700001 144900000 Amplification BCL9 Esophageal adenocarcinoma
2 19685 1 151000001 155000000 Amplification SKI Esophageal adenocarcinoma
3 21958 1 163432534 163614111 Gain and loss LMX1A Barrett''s syndrome
4 25140 1 184717073 186846060 Gain and loss PLA2G4A Barrett''s syndrome
5 25141 1 184717073 186846060 Gain and loss PTGS2 Barrett''s syndrome
6 29301 1 2300000 5400000 Copy number Esophageal adenocarcinoma
7 33578 1 46425202 46624292 Loss RAD54L Barrett''s syndrome
8 37058 1 84900000 107200000 Loss F3 Esophageal adenocarcinoma
9 39044 10 108165938 109275992 Loss SORCS1 Barrett''s syndrome
10 39081 10 109092539 133471230 Loss BUB3 Barrett''s syndrome
11 39082 10 109092539 133471230 Loss MCMBP Barrett''s syndrome
12 39083 10 109092539 133471230 Loss NANOS1 Barrett''s syndrome
13 39407 10 114856262 115024106 Loss TCF7L2 Barrett''s syndrome
14 47055 10 89500000 92900000 Copy number Esophageal adenocarcinoma
15 49101 11 102900000 110400000 Copy number Esophageal adenocarcinoma
16 50933 11 120168346 133686875 Loss CHEK1 Barrett''s syndrome
17 50934 11 120168346 133686875 Loss ETS1 Barrett''s syndrome
18 50935 11 120168346 133686875 Loss TIRAP Barrett''s syndrome
19 52231 11 149520 6642613 Loss MUC6 Barrett''s syndrome
20 52232 11 149520 6642613 Loss RHOG Barrett''s syndrome
21 53078 11 2400000 5900000 Copy number CDKN1C Esophageal adenocarcinoma
22 54793 11 474042 626401 Loss HRAS Barrett''s syndrome
23 54794 11 474042 626401 Loss CDHR5 Barrett''s syndrome
24 54795 11 474042 626401 Loss RASSF7 Barrett''s syndrome
25 54796 11 474042 626401 Loss RNH1 Barrett''s syndrome
26 54797 11 474042 626401 Loss SCT Barrett''s syndrome
27 57455 11 63400000 77100000 Gain CCND1 Esophageal adenocarcinoma
28 57457 11 63400000 77100000 Gain CTTN Esophageal adenocarcinoma
29 57458 11 63400000 77100000 Gain FGF3 Esophageal adenocarcinoma
30 60370 11 8555485 8795697 Loss DENND2B Barrett''s syndrome
31 60371 11 8555485 8795697 Loss STK33 Barrett''s syndrome
32 64928 12 133416937 133464204 Copy number CHFR Esophageal adenocarcinoma
33 76216 13 28900000 32200000 Gain BRCA2 Esophageal adenocarcinoma
34 80630 13 95000000 115169878 Gain ABCC4 Esophageal adenocarcinoma
35 80631 13 95000000 115169878 Gain ING1 Esophageal adenocarcinoma
36 83864 14 22278370 23705612 Gain and loss MMP14 Barrett''s syndrome
37 83865 14 22278370 23705612 Gain and loss PCK2 Barrett''s syndrome
38 86372 14 58681498 106175506 Gain and loss FOXN3 Barrett''s syndrome
39 86373 14 58681498 106175506 Gain and loss MAX Barrett''s syndrome
40 86374 14 58681498 106175506 Gain and loss MLH3 Barrett''s syndrome
41 92864 15 44800000 63700000 Loss B2M Esophageal adenocarcinoma
42 95624 15 78300000 102531392 Loss IGF1R Esophageal adenocarcinoma
43 105274 16 77215302 77345302 Loss WWOX Barrett''s syndrome
44 105374 16 7900000 10500000 Copy number Esophageal adenocarcinoma
45 106764 17 1 20774742 Copy number MYBBP1A Esophageal adenocarcinoma
46 106765 17 1 20774742 Copy number TP53 Esophageal adenocarcinoma
47 108120 17 18863807 19044654 Loss GRAP Barrett''s syndrome
48 109777 17 2912016 3092354 Gain and loss Barrett''s syndrome
49 109778 17 2912016 3092354 Gain and loss Esophageal adenocarcinoma
50 110805 17 34303536 34308523 Gain CCL3 Esophageal adenocarcinoma
Sources

Expression for Barrett Esophagus

About this section
Search GEO for disease gene expression data for Barrett Esophagus.
Sources

Pathways for Barrett Esophagus

About this section

Pathways related to Barrett Esophagus according to GeneCards Suite gene sharing:

(show all 46)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.96 TP53 PTGS2 MYC ERBB2 CCND1 APC
2
Endometrial cancer 36
Show member pathways
 12.77 TP53 SMAD4 MYC ERBB2 CDKN2A CCND1
3
Pathways in cancer 36
12.73 TP53 SMAD4 PTGS2 MYC ERBB2 CDKN2A
4
WNT Signaling 63
12.38 TP53 PTGS2 MYC CCND1 APC
5
DNA Damage Response 1
Show member pathways
 12.36 TP53 MYC CDKN2A CCND1
6
Translation Non-genomic (rapid) action of Androgen Receptor 23
Show member pathways
 12.29 TP53 ERBB2 CCND1 APC
7
MicroRNAs in cancer 36
12.29 TP53 PTGS2 MYC ERBB2 CDKN2A CCND1
8
Proteoglycans in cancer 36
12.28 TP53 MYC ERBB2 CCND1
9
Gastric cancer 36
Show member pathways
 12.28 TP53 SMAD4 MYC MUC2 ERBB2 CDX2
10
Cell cycle 36 1
12.27 TP53 SMAD4 MYC CDKN2A CCND1 APC
11
Human T-cell leukemia virus 1 infection 36
12.26 TP53 SMAD4 MYC CDKN2A CCND1
12
Wnt Signaling Pathway and Pluripotency 1
Show member pathways
 12.21 TP53 MYC CCND1 APC
13
Cell cycle Role of SCF complex in cell cycle regulation 23
Show member pathways
 12.2 SMAD4 MYC CDKN2A CCND1
14
Hippo signaling pathway 36
12.13 SMAD4 MYC CCND1 APC
15
Cellular senescence (KEGG) 36
12.12 TP53 MYC CDKN2A CCND1
16
Integrated Breast Cancer Pathway 1
12.11 TP53 SMAD4 MYC CCND1
17
Wnt signaling pathway 36
12.1 TP53 SMAD4 MYC CCND1 APC
18
TGF-beta Signaling Pathway (WikiPathways) 1
12.03 TP53 SMAD4 MYC CCND1
19
Colorectal Cancer Metastasis 63
12.02 TP53 SMAD4 PTGS2 MYC CCND1 APC
20
Spinal Cord Injury 1
11.98 TP53 PTGS2 MYC CCND1
21
Interleukin-4 and 13 signaling 65
11.93 TP53 PTGS2 MYC CCND1
22
Glioblastoma Multiforme 63
11.9 TP53 MYC CDKN2A CCND1 APC
23
Retinoblastoma (RB) in Cancer 1
11.82 TP53 MYC CCND1
24
Small cell lung cancer 36
11.82 TP53 PTGS2 MYC CCND1
25
Validated targets of C-MYC transcriptional activation 1
11.78 TP53 SMAD4 MYC
26
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.77 MYC CCND1 APC
27
C-MYB transcription factor network 1
11.76 PTGS2 MYC CCND1
28
Platinum drug resistance 36
11.72 TP53 ERBB2 CDKN2A
29
Central carbon metabolism in cancer 36
11.7 TP53 MYC ERBB2
30
Association Between Physico-Chemical Features and Toxicity Associated Pathways 1
11.69 MYC ERBB2 APC
31
Pathways Affected in Adenoid Cystic Carcinoma 1
11.67 TP53 MYC ERBB2
32
Bladder cancer 36 1
11.63 TP53 MYC ERBB2 CDKN2A CCND1
33
Validated targets of C-MYC transcriptional repression 1
11.6 SMAD4 MYC ERBB2 CCND1
34
IL-2 Gene Expression in Activated and Quiescent T-Cells 63
Show member pathways
 11.58 SMAD4 MYC ERBB2 CCND1
35
Copper homeostasis 1
11.57 TP53 CCND1 APC
36
Wnt Signaling Pathway Netpath 1
11.56 MYC CCND1 APC
37
Photodynamic therapy-induced AP-1 survival signaling. 1
11.53 TP53 CDKN2A CCND1
38
miRNAs involved in DNA damage response 1
11.52 TP53 MYC CCND1
39
Presenilin action in Notch and Wnt signaling 1
11.48 MYC CCND1 APC
40
DNA damage_ATM/ATR regulation of G1/S checkpoint 23
11.44 TP53 MYC CCND1
41
LKB1 signaling events 1
11.41 TP53 SMAD4 MYC
42
DNA Damage Response (only ATM dependent) 1
11.29 TP53 SOD2 SMAD4 MYC ERBB2 CDKN2A
43
Hepatitis C and Hepatocellular Carcinoma 1
11.26 TP53 SMAD4 PTGS2 MYC CCND1
44
Extracellular vesicle-mediated signaling in recipient cells 1
11.23 SMAD4 ERBB2 APC
45
TP53 Network 1
Show member pathways
 11.07 TP53 MYC CDKN2A
46
Inhibition of Ribosome Biogenesis by p14(ARF) 63
11.05 TP53 MYC CDKN2A
Sources

GO Terms for Barrett Esophagus

About this section

Cellular components related to Barrett Esophagus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mucus layer GO:0070701 8.62 MUC5AC MUC2

Biological processes related to Barrett Esophagus according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.89 TP53 MYC CCND1 ASCC1 APC
2 O-glycan processing GO:0016266 9.58 MUC6 MUC5AC MUC2
3 cell cycle arrest GO:0007050 9.56 TP53 MYC CDKN2A APC
4 response to drug GO:0042493 9.55 TP53 SOD2 PTGS2 MYC CCND1
5 cellular response to UV GO:0034644 9.54 TP53 PTGS2 MYC
6 regulation of microtubule-based process GO:0032886 9.48 ERBB2 APC
7 mitotic G1 DNA damage checkpoint GO:0031571 9.46 TP53 CCND1
8 response to manganese ion GO:0010042 9.43 SOD2 PTGS2
9 negative regulation of immature T cell proliferation in thymus GO:0033088 9.32 ERBB2 CDKN2A
10 response to oxidative stress GO:0006979 9.26 TP53 SOD2 PTGS2 GPX7
11 negative regulation of cell proliferation GO:0008285 9.1 TP53 SOD2 SMAD4 PTGS2 CDKN2A APC

Molecular functions related to Barrett Esophagus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MDM2/MDM4 family protein binding GO:0097371 8.62 TP53 CDKN2A
Sources

Sources for Barrett Esophagus

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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