MCID: ESP020
MIFTS: 50

Esophageal Atresia

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia

MalaCards integrated aliases for Esophageal Atresia:

Name: Esophageal Atresia 12 50 29 52 42 14 69
Congenital Imperforate Esophagus 12
Congenital Atresia of Esophagus 12
Imperforate Esophagus 12
Oesophageal Atresia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10485
ICD10 33 Q39.0
MeSH 42 D004933
NCIt 47 C87072
UMLS 69 C0014850

Summaries for Esophageal Atresia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1199disease definitionoesophageal atresia (oa) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.epidemiologyoa occurs in 1 in 2500 live births.clinical descriptioninfants with oa are unable to swallow saliva and are noted to have excessive salivation requiring repeated suctioning. associated anomalies occur in 50% of cases, the majority involving one or more of the vacterl association anomalies (vertebral, anorectal, cardiac, tracheooesophageal, renal and limb defects). in 86% of cases there is a distal tracheooesophageal fistula, in 7% of cases there is no fistulous connection, while in 4% of cases there is a tracheooesophageal fistula without atresia. the remaining cases are made up of patients with oa with proximal, or both proximal and distal, tracheooesophageal fistula.etiologythe aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal models, particularly defects in the expression of the sonic hedgehog (shh) gene.diagnostic methodsthe diagnosis may be suspected prenatally by a small or absent stomach bubble on ultrasound scan at around 18 weeks of gestation. the likelihood of an atresia is increased by the presence of polyhydramnios. inserting a nasogastric tube at birth allows the diagnosis to be confirmed or excluded and should be performed in all infants born to a mother with polyhydramnios, as well as in infants who produce excessive mucus soon after delivery. in oa, the tube will not progress beyond 10 cm from the mouth. further confirmation is obtained by plain x-ray of the chest and abdomen.genetic counselingthe vast majority of cases are sporadic and the recurrence risk for siblings is 1%.management and treatmentdefinitive management involves disconnection of the tracheooesophageal fistula, closure of the tracheal defect and primary anastomosis of the oesophagus. delayed primary repair should be attempted when there is a 'long gap' between the ends of the oesophagus. only very rarely willoesophageal replacement be required.prognosissurvival is directly related to birth weight and to the presence of a major cardiac defect. infants weighing over 1500 g and having no major cardiac problems have a near 100% survival rate, but the survival rate decreases in the presence of additional risk factors.visit the orphanet disease page for more resources. last updated: 4/21/2015

MalaCards based summary : Esophageal Atresia, also known as congenital imperforate esophagus, is related to duodenal atresia and imperforate anus. An important gene associated with Esophageal Atresia is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Wnt / Hedgehog / Notch. The drugs Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include lung, colon and heart, and related phenotypes are mortality/aging and homeostasis/metabolism

Wikipedia : 72 Esophageal atresia (or oesophageal atresia) is a congenital medical condition (birth defect) that... more...

Related Diseases for Esophageal Atresia

Diseases related to Esophageal Atresia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 duodenal atresia 30.7 CHD7 EFTUD2
2 imperforate anus 24.3 CHD7 EFTUD2 FOXF1 GLI2 GLI3 LPP
3 esophageal atresia/tracheoesophageal fistula 12.4
4 tracheoesophageal fistula with or without esophageal atresia 11.9
5 anophthalmia-esophageal atresia-genital abnormalities syndrome 11.9
6 anophthalmia esophageal atresia cryptorchidism 11.9
7 esophageal atresia coloboma talipes 11.9
8 microphthalmia, syndromic 3 11.8
9 tracheoesophageal fistula 11.8
10 vacterl association 11.2
11 vater/vacterl association 11.2
12 esophagitis 11.0
13 methimazole antenatal exposure 10.9
14 diarrhea 5, with tufting enteropathy, congenital 10.9
15 anophthalmos with limb anomalies 10.9
16 fanconi anemia, complementation group b 10.9
17 arroyo garcia cimadevilla syndrome 10.9
18 alopecia areata 1 10.6 GLI3 SHH
19 schizencephaly 10.4 SHH SOX2
20 childhood medulloblastoma 10.3 MYCN SHH
21 syringobulbia 10.3 GLI3 NOG
22 sporadic pheochromocytoma 10.3 GLI2 SHH
23 celosomia 10.3 GLI2 SHH
24 cranial nerve malignant neoplasm 10.3 FOXF1 SHH
25 pelizaeus-merzbacher disease in female carriers 10.3 GLI2 SHH
26 laryngotracheoesophageal cleft type 2 10.3 GLI2 SHH
27 hypertrichotic osteochondrodysplasia cantu type 10.3 CHD7 FOXF1
28 malignant tumor of undescended testis 10.3 CHD7 SHH SOX2
29 laryngotracheoesophageal cleft type 4 10.3 GLI2 SHH
30 gnas hyperfunction 10.2 GLI2 GLI3
31 isolated facial myokymia 10.2 GLI2 SHH
32 pallister-hall syndrome 10.2 GLI2 GLI3
33 hypomelia with mullerian duct anomalies 10.2 FOXF1 TEF
34 congenital diaphragmatic hernia 10.2
35 c5 deficiency 10.2 GLI2 SHH
36 prolymphocytic leukemia 10.2 GLI2 SHH
37 gastroesophageal reflux 10.1
38 tracheomalacia 10.1
39 duodenitis 10.1
40 macular dystrophy, patterned, 3 10.1 GLI2 SHH
41 polydactyly, preaxial, type iv 10.0 GLI2 GLI3 SHH
42 basal cell nevus syndrome 10.0 GLI2 GLI3 SHH
43 horner's syndrome 10.0 GLI2 GLI3 SHH
44 orchitis 10.0 GLI2 GLI3 SHH
45 simosa craniofacial syndrome 10.0 GLI3 NOG
46 microphthalmia 10.0
47 hypertrophic pyloric stenosis 10.0
48 pyloric stenosis 10.0
49 right aortic arch 10.0
50 pelvic varices 10.0 CHD7 TEF

Graphical network of the top 20 diseases related to Esophageal Atresia:



Diseases related to Esophageal Atresia

Symptoms & Phenotypes for Esophageal Atresia

MGI Mouse Phenotypes related to Esophageal Atresia:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.22 GLI2 GLI3 LPP MYCN NOG SHH
2 homeostasis/metabolism MP:0005376 10.21 CHD7 EFTUD2 GLI2 GLI3 LPP MYCN
3 cellular MP:0005384 10.18 CHD7 GLI2 GLI3 LPP MYCN NOG
4 digestive/alimentary MP:0005381 10.16 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
5 embryo MP:0005380 10.15 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
6 craniofacial MP:0005382 10.11 CHD7 GLI2 GLI3 MYCN NOG SHH
7 nervous system MP:0003631 10.03 TEF CHD7 GLI2 GLI3 MYCN NOG
8 endocrine/exocrine gland MP:0005379 10.01 CHD7 GLI2 GLI3 NOG SHH SOX2
9 hearing/vestibular/ear MP:0005377 10 CHD7 GLI2 GLI3 NOG SHH SOX2
10 muscle MP:0005369 10 CHD7 FOXF1 GLI2 MYCN NOG SHH
11 limbs/digits/tail MP:0005371 9.97 CHD7 GLI2 GLI3 MYCN NOG SHH
12 reproductive system MP:0005389 9.92 SHH SOX2 CHD7 GLI2 GLI3 LPP
13 respiratory system MP:0005388 9.86 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
14 normal MP:0002873 9.85 GLI2 GLI3 MYCN NOG SHH SOX2
15 no phenotypic analysis MP:0003012 9.8 GLI2 GLI3 MYCN SHH SOX2
16 skeleton MP:0005390 9.7 CHD7 GLI2 GLI3 MYCN NOG SHH
17 taste/olfaction MP:0005394 9.26 SHH SOX2 GLI3 NOG
18 vision/eye MP:0005391 9.17 CHD7 GLI2 GLI3 MYCN NOG SHH

Drugs & Therapeutics for Esophageal Atresia

Drugs for Esophageal Atresia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6 4594
2 Antacids Phase 3
3 Anti-Ulcer Agents Phase 3
4 Gastrointestinal Agents Phase 3
5
Proton pump inhibitors Phase 3
6 Pharmaceutical Solutions Phase 2
7 Fat Emulsions, Intravenous Phase 2
8 Parenteral Nutrition Solutions Phase 2
9 Soybean oil, phospholipid emulsion Phase 2
10 Omega 3 Fatty Acid Nutraceutical Phase 2
11 Soy Bean Nutraceutical Phase 2
12
Nitric Oxide Approved 10102-43-9 145068
13
Ropivacaine Approved 84057-95-4 71273 175805
14 Micronutrients
15 Trace Elements
16 Vitamins
17
Bilirubin 635-65-4 5280352
18 Coagulants
19 Hemostatics
20 Liver Extracts
21 Anesthetics
22 Anesthetics, Local
23 Central Nervous System Depressants
24 Peripheral Nervous System Agents
25 lysine Nutraceutical

Interventional clinical trials:

(show all 15)

id Name Status NCT ID Phase Drugs
1 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3 Omeprazole suppository
2 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Not yet recruiting NCT03127345 Phase 2 Omegaven;Intralipid
3 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245
4 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
5 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
6 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
7 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
8 HEMOCC Study. Hemostasis in Cirrhotic Children. Completed NCT03244332
9 National Register of Oesophageal Atresia Recruiting NCT02883725
10 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705
11 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
12 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
13 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Enrolling by invitation NCT02033772
14 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865
15 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Not yet recruiting NCT02860091 Ropivacaine infusion

Search NIH Clinical Center for Esophageal Atresia

Cochrane evidence based reviews: esophageal atresia

Genetic Tests for Esophageal Atresia

Genetic tests related to Esophageal Atresia:

id Genetic test Affiliating Genes
1 Esophageal Atresia 29

Anatomical Context for Esophageal Atresia

MalaCards organs/tissues related to Esophageal Atresia:

39
Lung, Colon, Heart, Liver, Trachea, Brain, Pancreas

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 742)
id Title Authors Year
1
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
2
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
3
Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort. ( 28778692 )
2017
4
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
5
Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup. ( 28061520 )
2017
6
Comparison of outcomes of thoracoscopic primary repair of gross type C esophageal atresia performed by qualified and non-qualified surgeons. ( 28801747 )
2017
7
Brain Oxygenation During Thoracoscopic Repair of Long Gap Esophageal Atresia. ( 28058473 )
2017
8
Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation". ( 28694583 )
2017
9
Comparison of clinical outcomes between open and thoracoscopic repair for esophageal atresia with tracheoesophageal fistula: a systematic review and meta-analysis. ( 28914345 )
2017
10
Creation of an Esophageal Atresia Animal Model Using a Bifurcated Esophagus to Maintain Digestive Tract Continuity. ( 28877007 )
2017
11
Utilizing stricture indices to predict dilation of strictures after esophageal atresia repair. ( 28807203 )
2017
12
No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood. ( 28873491 )
2017
13
Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients. ( 28061521 )
2017
14
Management of recurrent tracheoesophageal fistula after esophageal atresia and follow-up. ( 28859370 )
2017
15
Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review. ( 28877681 )
2017
16
New Variant of Esophageal Atresia. ( 28083495 )
2017
17
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
18
Type IV Esophageal Atresia with Nasogastric Tube in Stomach. ( 28770141 )
2017
19
Successful Thoracic Duct Embolization for Treatment of anA Iatrogenic Left Chylothorax inA aA Neonate after Repair of a Tracheoesophageal Fistula and Esophageal Atresia. ( 28841955 )
2017
20
Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula. ( 28803355 )
2017
21
Thoracoscopic surgery for esophageal atresia. ( 28064362 )
2017
22
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
23
Two-Stage Thoracoscopic Repair of Long-Gap Esophageal Atresia Using Internal Traction Is Safe and Feasible. ( 27792528 )
2017
24
Radiation Exposure and Attributable Cancer Risk in Patients with Esophageal Atresia. ( 28753184 )
2017
25
Dilations of anastomotic strictures over time after repair of esophageal atresia. ( 27844168 )
2017
26
A scoring system to predict mortality in infants with esophageal atresia: A case-control study. ( 28796065 )
2017
27
Twin pregnancy complicated by esophageal atresia, duodenal atresia, gastric perforation, and hypoplastic left heart structures in one twin: a case report and review of the literature. ( 28314387 )
2017
28
Learning curve for the thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. ( 28718991 )
2017
29
Genetic Testing in a Cohort of Complex Esophageal Atresia. ( 28878607 )
2017
30
Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. ( 28953251 )
2017
31
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
32
Respiratory problems in children with esophageal atresia and tracheoesophageal fistula. ( 28870218 )
2017
33
Risk Factors for Anastomotic Strictures after Esophageal Atresia Repair: Prophylactic Proton Pump Inhibitors Do Not Reduce the Incidence of Strictures. ( 27769086 )
2017
34
Esophageal Atresia with Tracheo-Esophageal Fistula Presenting Beyond 7 Days. ( 28920017 )
2017
35
A new approach for the management of esophageal atresia without tracheo-esophageal fistula. ( 27365910 )
2016
36
Esophageal Atresia with Tracheoesophageal Fistula. ( 27387366 )
2016
37
Long-term pulmonary function in esophageal atresia-A case-control study. ( 27164020 )
2016
38
Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia. ( 26953589 )
2016
39
Impaired VEGF Signaling in Lungs with Hypoplastic Esophageal Atresia and Effects on Branching Morphogenesis. ( 27372649 )
2016
40
An Unusual Passage of a Nasogastric Tube in Esophageal Atresia. ( 26794469 )
2016
41
Coping strategies used by children and adolescents born with esophageal atresia - a focus group study obtaining the child and parent perspective. ( 27469614 )
2016
42
The management of newborns with esophageal atresia and right aortic arch: A systematic review or still unsolved problem. ( 26592954 )
2016
43
Risk Factors for Stricture Formation After Esophageal Atresia Repair. ( 26895295 )
2016
44
Thoracoscopic repair of esophageal atresia with tracheoesophageal fistula: Basics of technique and its nuances. ( 27365905 )
2016
45
Categorization and repair of recurrent and acquired tracheoesophageal fistulae occurring after esophageal atresia repair. ( 27616617 )
2016
46
An approximation technique for primary anastomosis (Gazi method) in selected cases of long gap esophageal atresia. ( 26961289 )
2016
47
An Unusual Case of Foreign Body Lodged in the Laryngopharynx of Neonate with Esophageal Atresia. ( 26793600 )
2016
48
Ulcerative Colitis in Colonic Interposition for Esophageal Atresia. ( 27847835 )
2016
49
Weekday vs. weekend repair of esophageal atresia and tracheoesophageal fistula. ( 26932247 )
2016
50
Erratum: Transition of Patients with Esophageal Atresia to Adult Care: Results of a Transition-Specific Education Program. ( 27655269 )
2016

Variations for Esophageal Atresia

Expression for Esophageal Atresia

Search GEO for disease gene expression data for Esophageal Atresia.

Pathways for Esophageal Atresia

GO Terms for Esophageal Atresia

Cellular components related to Esophageal Atresia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ciliary tip GO:0097542 8.96 GLI2 GLI3
2 ciliary base GO:0097546 8.62 GLI2 GLI3

Biological processes related to Esophageal Atresia according to GeneCards Suite gene sharing:

(show top 50) (show all 81)
id Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 FOXF1 GLI2 GLI3 SHH
2 transcription from RNA polymerase II promoter GO:0006366 9.98 FOXF1 GLI2 GLI3 SOX2 TEF
3 axon guidance GO:0007411 9.96 GLI2 GLI3 NOG SHH
4 regulation of gene expression GO:0010468 9.93 GLI3 SHH SOX2
5 negative regulation of gene expression GO:0010629 9.93 MYCN NOG SHH
6 negative regulation of canonical Wnt signaling pathway GO:0090090 9.93 GLI3 NOG SHH SOX2
7 skeletal system development GO:0001501 9.91 CHD7 GLI2 NOG
8 kidney development GO:0001822 9.9 GLI2 GLI3 SHH
9 central nervous system development GO:0007417 9.9 CHD7 GLI3 NOG SHH
10 osteoblast differentiation GO:0001649 9.89 GLI2 NOG SOX2
11 anterior/posterior pattern specification GO:0009952 9.89 GLI2 GLI3 SHH
12 in utero embryonic development GO:0001701 9.89 CHD7 FOXF1 GLI2 GLI3 NOG
13 palate development GO:0060021 9.88 CHD7 GLI3 SHH
14 forebrain development GO:0030900 9.87 GLI3 SHH SOX2
15 camera-type eye development GO:0043010 9.86 CHD7 GLI3 SHH
16 negative regulation of cell differentiation GO:0045596 9.86 GLI3 NOG SHH
17 odontogenesis of dentin-containing tooth GO:0042475 9.85 GLI2 GLI3 SHH
18 inner ear development GO:0048839 9.85 GLI3 SHH SOX2
19 neural tube development GO:0021915 9.83 GLI2 GLI3 NOG
20 smoothened signaling pathway GO:0007224 9.81 FOXF1 GLI2 GLI3 SHH
21 developmental growth GO:0048589 9.79 GLI2 GLI3 SHH
22 pituitary gland development GO:0021983 9.79 GLI2 NOG SOX2
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.78 FOXF1 MYCN SHH
24 pattern specification process GO:0007389 9.78 GLI2 GLI3 NOG SHH
25 branching involved in ureteric bud morphogenesis GO:0001658 9.76 GLI3 SHH
26 embryonic skeletal system development GO:0048706 9.76 NOG SHH
27 embryonic organ development GO:0048568 9.76 GLI3 SHH
28 dorsal/ventral pattern formation GO:0009953 9.76 GLI2 GLI3 NOG SHH
29 mammary gland development GO:0030879 9.75 GLI2 GLI3
30 metanephros development GO:0001656 9.75 GLI3 SHH
31 oligodendrocyte differentiation GO:0048709 9.75 GLI3 SHH
32 neuron fate commitment GO:0048663 9.75 GLI3 SHH
33 lung morphogenesis GO:0060425 9.75 FOXF1 NOG SHH
34 T cell differentiation in thymus GO:0033077 9.74 GLI3 SHH
35 embryonic hindlimb morphogenesis GO:0035116 9.74 CHD7 SHH
36 pancreas development GO:0031016 9.74 FOXF1 SHH
37 proximal/distal pattern formation GO:0009954 9.74 GLI2 GLI3
38 hindbrain development GO:0030902 9.74 GLI2 SHH
39 renal system development GO:0072001 9.74 FOXF1 SHH
40 positive regulation of neuroblast proliferation GO:0002052 9.74 GLI3 SHH
41 spinal cord motor neuron differentiation GO:0021522 9.74 GLI2 GLI3 SHH
42 positive regulation of protein import into nucleus GO:0042307 9.73 GLI3 SHH
43 osteoblast development GO:0002076 9.73 GLI2 SHH
44 somite development GO:0061053 9.73 NOG SHH
45 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 FOXF1 SHH
46 embryonic digestive tract morphogenesis GO:0048557 9.73 FOXF1 GLI3 SHH
47 limb development GO:0060173 9.73 CHD7 GLI3 NOG SHH
48 embryonic morphogenesis GO:0048598 9.72 GLI3 SHH
49 dorsal/ventral neural tube patterning GO:0021904 9.72 GLI2 SHH
50 negative regulation of astrocyte differentiation GO:0048712 9.72 MYCN NOG

Molecular functions related to Esophageal Atresia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 CHD7 FOXF1 GLI2 GLI3 MYCN SOX2
2 transcription regulatory region DNA binding GO:0044212 9.61 FOXF1 GLI2 SOX2
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 FOXF1 GLI3 TEF
4 sequence-specific DNA binding GO:0043565 9.55 FOXF1 GLI2 GLI3 SOX2 TEF
5 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 CHD7 GLI2 GLI3
6 transcription factor activity, sequence-specific DNA binding GO:0003700 9.43 FOXF1 GLI2 GLI3 MYCN SOX2 TEF
7 promoter-specific chromatin binding GO:1990841 9.37 CHD7 GLI2
8 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 8.92 GLI2 GLI3 SOX2 TEF

Sources for Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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