MCID: ESP020
MIFTS: 54

Esophageal Atresia

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia

MalaCards integrated aliases for Esophageal Atresia:

Name: Esophageal Atresia 12 72 49 28 51 41 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 32 Q39.0
MeSH 41 D004933
NCIt 46 C87072
UMLS 69 C0014850

Summaries for Esophageal Atresia

NIH Rare Diseases : 49 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 esophageal atresia/tracheoesophageal fistula and tracheoesophageal fistula. 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, heart and colon, and related phenotypes are mortality/aging and homeostasis/metabolism

Wikipedia : 72 Esophageal atresia is a congenital medical condition (birth defect) that affects the alimentary tract.... 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 143)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 33.5 LPP TEF
2 tracheoesophageal fistula 31.8 CHD7 GLI3 MYCN NOG SHH SOX2
3 vacterl association 31.5 FOXF1 LPP SHH
4 anus, imperforate 30.1 GLI3 SHH TEF
5 choanal atresia, posterior 30.1 CHD7 EFTUD2 SHH
6 coloboma of macula 29.7 CHD7 SHH SOX2
7 tracheoesophageal fistula with or without esophageal atresia 12.3
8 anophthalmia esophageal atresia cryptorchidism 12.0
9 esophageal atresia coloboma talipes 12.0
10 microphthalmia, syndromic 3 11.9
11 vater/vacterl association 11.3
12 esophagitis 11.1
13 fanconi anemia, complementation group b 11.0
14 diarrhea 5, with tufting enteropathy, congenital 11.0
15 anophthalmos with limb anomalies 11.0
16 methimazole antenatal exposure 11.0
17 arroyo garcia cimadevilla syndrome 11.0
18 holoprosencephaly 4 10.4 GLI3 SHH
19 diaphragmatic hernia, congenital 10.3
20 gastroesophageal reflux 10.2
21 tracheomalacia 10.2
22 adult medulloblastoma 10.2 MYCN SHH
23 synovial chondromatosis 10.2 GLI3 NOG
24 septopreoptic holoprosencephaly 10.2 GLI2 SHH
25 midline interhemispheric variant of holoprosencephaly 10.2 GLI2 SHH
26 microform holoprosencephaly 10.2 GLI2 SHH
27 duodenitis 10.2
28 ritscher-schinzel syndrome 10.2 CHD7 FOXF1
29 alobar holoprosencephaly 10.2 GLI2 SHH
30 schizencephaly 10.2 SHH SOX2
31 nonspecific interstitial pneumonia 10.2 FOXF1 SHH
32 lobar holoprosencephaly 10.1 GLI2 SHH
33 duodenal atresia 10.1
34 semilobar holoprosencephaly 10.1 GLI2 SHH
35 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 GLI2 SHH
36 greig cephalopolysyndactyly syndrome 10.1 GLI2 GLI3
37 disuse amblyopia 10.1 GLI2 SHH
38 microphthalmia 10.1
39 heart disease 10.1
40 hypertrophic pyloric stenosis 10.1
41 pyloric stenosis 10.1
42 right aortic arch 10.1
43 lung agenesis 10.0
44 esophagitis, eosinophilic, 1 10.0
45 laryngitis 10.0
46 dysphagia 10.0
47 barrett esophagus 10.0
48 pharyngitis 10.0
49 situs inversus 10.0
50 bardet-biedl syndrome 17 10.0 GLI2 SHH

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:

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

Drugs & Therapeutics for Esophageal Atresia

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

(show all 21)
# 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 175805 71273
14 Micronutrients
15 Trace Elements
16 Vitamins
17 Anesthetics
18 Anesthetics, Local
19 Central Nervous System Depressants
20 Peripheral Nervous System Agents
21 lysine Nutraceutical

Interventional clinical trials:

(show all 15)

# 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 High-resolution Esophageal Manometry Completed NCT03415893
5 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
6 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
7 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
8 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
9 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753
10 National Register of Oesophageal Atresia Recruiting NCT02883725
11 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705
12 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
13 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
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:

# Genetic test Affiliating Genes
1 Esophageal Atresia 28

Anatomical Context for Esophageal Atresia

MalaCards organs/tissues related to Esophageal Atresia:

38
Lung, Heart, Colon, Trachea, Brain, Pancreas, Bone

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 763)
# Title Authors Year
1
Laryngotracheal anomalies associated with esophageal atresia: importance of early diagnosis. ( 29299746 )
2018
2
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. ( 29373345 )
2018
3
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchioa89otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance? ( 29257230 )
2018
4
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
5
Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula. ( 29429769 )
2018
6
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
7
Prevalence of Laryngeal Cleft in Pediatric Patients With Esophageal Atresia. ( 29270628 )
2018
8
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. ( 29373986 )
2018
9
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
10
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
11
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
12
Comparison of outcomes of thoracoscopic primary repair of gross type C esophageal atresia performed by qualified and non-qualified surgeons. ( 28801747 )
2017
13
Genetic Testing in a Cohort of Complex Esophageal Atresia. ( 28878607 )
2017
14
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
15
Radiation Exposure and Attributable Cancer Risk in Patients with Esophageal Atresia. ( 28753184 )
2017
16
A scoring system to predict mortality in infants with esophageal atresia: A case-control study. ( 28796065 )
2017
17
Treatment and Outcome for Children with Esophageal Atresia from a Gender Perspective. ( 29201998 )
2017
18
Respiratory problems in children with esophageal atresia and tracheoesophageal fistula. ( 28870218 )
2017
19
Respiratory Morbidity in Children with Repaired Congenital Esophageal Atresia with or without Tracheoesophageal Fistula. ( 28953251 )
2017
20
Isolated tracheoesophageal fistula versus esophageal atresia - Early morbidity and short-term outcome. A single institution series. ( 28166998 )
2017
21
Creation of an Esophageal Atresia Animal Model Using a Bifurcated Esophagus to Maintain Digestive Tract Continuity. ( 28877007 )
2017
22
Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula. ( 28803355 )
2017
23
Risk Factors for Anastomotic Strictures after Esophageal Atresia Repair: Prophylactic Proton Pump Inhibitors Do Not Reduce the Incidence of Strictures. ( 27769086 )
2017
24
No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood. ( 28873491 )
2017
25
Thoracic skeletal anomalies following surgical treatment of esophageal atresia. Lessons from a national cohort. ( 28778692 )
2017
26
Management of recurrent tracheoesophageal fistula after esophageal atresia and follow-up. ( 28859370 )
2017
27
Thoracoscopic surgery for esophageal atresia. ( 28064362 )
2017
28
Esophageal Atresia with Tracheo-Esophageal Fistula Presenting Beyond 7 Days. ( 28920017 )
2017
29
Brain Oxygenation During Thoracoscopic Repair of Long Gap Esophageal Atresia. ( 28058473 )
2017
30
Two-Stage Thoracoscopic Repair of Long-Gap Esophageal Atresia Using Internal Traction Is Safe and Feasible. ( 27792528 )
2017
31
Simple Technique of Bridging Wide Gap in Esophageal Atresia with Tracheoesophageal Fistula - "Surgical Innovation". ( 28694583 )
2017
32
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
33
Posterior Tracheopexy for Severe Tracheomalacia Associated with Esophageal Atresia (EA): Primary Treatment at the Time of Initial EA Repair versus Secondary Treatment. ( 29379786 )
2017
34
Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review. ( 28877681 )
2017
35
Management of neonates with right-sided aortic arch and esophageal atresia: International survey on IPEG AND ESPES membersA' experience. ( 29241961 )
2017
36
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
37
Elongation of esophageal segments by bougienage stretching technique for long gap esophageal atresia to achieve delayed primary anastomosis by thoracotomy or thoracoscopic repair: A first experience from China. ( 29395153 )
2017
38
Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients. ( 28061521 )
2017
39
Esophageal Atresia/Tracheoesophageal Fistula Repair Complicated by Tracheomalacia: A Case Report of Successful Management of Respiratory Distress Using Caudal Morphine. ( 28410264 )
2017
40
Dilations of anastomotic strictures over time after repair of esophageal atresia. ( 27844168 )
2017
41
Type IV Esophageal Atresia with Nasogastric Tube in Stomach. ( 28770141 )
2017
42
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
43
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
44
Learning curve for the thoracoscopic repair of esophageal atresia with tracheoesophageal fistula. ( 28718991 )
2017
45
New Variant of Esophageal Atresia. ( 28083495 )
2017
46
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
47
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
48
Esophageal atresia with distal fistula - unusual case series. Considerations related to epidemiological aspects, malformative associations, and prenatal diagnosis. ( 29250692 )
2017
49
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
50
Preoperative management of children with esophageal atresia: current perspectives. ( 29388618 )
2017

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:

# 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 82)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 FOXF1 GLI2 GLI3 SHH
2 axon guidance GO:0007411 9.96 GLI2 GLI3 NOG SHH
3 negative regulation of gene expression GO:0010629 9.93 MYCN NOG SHH
4 regulation of gene expression GO:0010468 9.93 GLI3 SHH SOX2
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.93 GLI3 NOG SHH SOX2
6 skeletal system development GO:0001501 9.91 CHD7 GLI2 NOG
7 kidney development GO:0001822 9.9 GLI2 GLI3 SHH
8 central nervous system development GO:0007417 9.9 CHD7 GLI3 NOG SHH
9 osteoblast differentiation GO:0001649 9.89 GLI2 NOG SOX2
10 anterior/posterior pattern specification GO:0009952 9.89 GLI2 GLI3 SHH
11 in utero embryonic development GO:0001701 9.89 CHD7 FOXF1 GLI2 GLI3 NOG
12 palate development GO:0060021 9.88 CHD7 GLI3 SHH
13 forebrain development GO:0030900 9.87 GLI3 SHH SOX2
14 camera-type eye development GO:0043010 9.86 CHD7 GLI3 SHH
15 negative regulation of cell differentiation GO:0045596 9.86 GLI3 NOG SHH
16 odontogenesis of dentin-containing tooth GO:0042475 9.85 GLI2 GLI3 SHH
17 inner ear development GO:0048839 9.85 GLI3 SHH SOX2
18 neural tube development GO:0021915 9.83 GLI2 GLI3 NOG
19 smoothened signaling pathway GO:0007224 9.81 FOXF1 GLI2 GLI3 SHH
20 developmental growth GO:0048589 9.79 GLI2 GLI3 SHH
21 pituitary gland development GO:0021983 9.79 GLI2 NOG SOX2
22 positive regulation of mesenchymal cell proliferation GO:0002053 9.78 FOXF1 MYCN SHH
23 pattern specification process GO:0007389 9.78 GLI2 GLI3 NOG SHH
24 positive regulation of cell differentiation GO:0045597 9.76 SHH SOX2
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 lung morphogenesis GO:0060425 9.76 FOXF1 NOG SHH
29 dorsal/ventral pattern formation GO:0009953 9.76 GLI2 GLI3 NOG SHH
30 mammary gland development GO:0030879 9.75 GLI2 GLI3
31 metanephros development GO:0001656 9.75 GLI3 SHH
32 oligodendrocyte differentiation GO:0048709 9.75 GLI3 SHH
33 neuron fate commitment GO:0048663 9.75 GLI3 SHH
34 embryonic hindlimb morphogenesis GO:0035116 9.74 CHD7 SHH
35 T cell differentiation in thymus GO:0033077 9.74 GLI3 SHH
36 pancreas development GO:0031016 9.74 FOXF1 SHH
37 proximal/distal pattern formation GO:0009954 9.74 GLI2 GLI3
38 renal system development GO:0072001 9.74 FOXF1 SHH
39 hindbrain development GO:0030902 9.74 GLI2 SHH
40 embryonic digestive tract morphogenesis GO:0048557 9.74 FOXF1 GLI3 SHH
41 positive regulation of neuroblast proliferation GO:0002052 9.73 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 spinal cord motor neuron differentiation GO:0021522 9.73 GLI2 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:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 CHD7 FOXF1 GLI2 GLI3 MYCN SOX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 CHD7 GLI2 GLI3 MYCN
3 transcription regulatory region DNA binding GO:0044212 9.61 FOXF1 GLI2 SOX2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 FOXF1 GLI3 TEF
5 sequence-specific DNA binding GO:0043565 9.55 FOXF1 GLI2 GLI3 SOX2 TEF
6 DNA binding transcription factor activity 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 proximal promoter sequence-specific DNA binding GO:0001077 9.02 GLI2 GLI3 MYCN SOX2 TEF

Sources for Esophageal Atresia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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