MCID: ESP020
MIFTS: 53

Esophageal Atresia

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Esophageal Atresia

MalaCards integrated aliases for Esophageal Atresia:

Name: Esophageal Atresia 12 76 53 29 55 44 15 73
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 44 D004933
NCIt 50 C87072
UMLS 73 C0014850

Summaries for Esophageal Atresia

NIH Rare Diseases : 53 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.

MalaCards based summary : Esophageal Atresia, also known as congenital imperforate esophagus, is related to esophageal atresia/tracheoesophageal fistula and vacterl association. An important gene associated with Esophageal Atresia is SHH (Sonic Hedgehog), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. 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 homeostasis/metabolism and cellular

Wikipedia : 76 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 138)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 33.7 LPP TEF
2 vacterl association 31.7 FOXF1 LPP SHH
3 tracheoesophageal fistula 31.5 CHD7 GLI3 MYCN NOG SHH SOX2
4 choanal atresia, posterior 30.6 CHD7 EFTUD2
5 anus, imperforate 30.2 GLI3 SHH TEF
6 tracheoesophageal fistula with or without esophageal atresia 12.3
7 anophthalmia esophageal atresia cryptorchidism 12.0
8 esophageal atresia coloboma talipes 12.0
9 microphthalmia, syndromic 3 11.9
10 vater/vacterl association 11.3
11 esophagitis 11.1
12 fanconi anemia, complementation group b 11.0
13 diarrhea 5, with tufting enteropathy, congenital 11.0
14 anophthalmos with limb anomalies 11.0
15 methimazole antenatal exposure 11.0
16 arroyo garcia cimadevilla syndrome 11.0
17 holoprosencephaly 4 10.6 GLI3 SHH
18 septopreoptic holoprosencephaly 10.4 GLI2 SHH
19 midline interhemispheric variant of holoprosencephaly 10.4 GLI2 SHH
20 synovial chondromatosis 10.4 GLI3 NOG
21 ritscher-schinzel syndrome 10.4 CHD7 FOXF1
22 alobar holoprosencephaly 10.4 GLI2 SHH
23 lobar holoprosencephaly 10.3 GLI2 SHH
24 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.3 GLI2 SHH
25 gastroesophageal reflux 10.3
26 greig cephalopolysyndactyly syndrome 10.3 GLI2 GLI3
27 coloboma of macula 10.3 CHD7 SHH SOX2
28 nonspecific interstitial pneumonia 10.3 FOXF1 SHH
29 diaphragmatic hernia, congenital 10.3
30 microform holoprosencephaly 10.3 GLI2 SHH
31 adult medulloblastoma 10.3 MYCN SHH
32 semilobar holoprosencephaly 10.2 GLI2 SHH
33 tracheomalacia 10.2
34 disuse amblyopia 10.2 GLI2 SHH
35 duodenitis 10.2
36 duodenal atresia 10.1
37 pallister-hall syndrome 10.1 GLI2 GLI3 SHH
38 basal cell nevus syndrome 10.1 GLI2 GLI3 SHH
39 lung agenesis 10.0
40 microphthalmia 10.0
41 heart disease 10.0
42 hypertrophic pyloric stenosis 10.0
43 pyloric stenosis 10.0
44 right aortic arch 10.0
45 esophagitis, eosinophilic, 1 10.0
46 laryngitis 10.0
47 dysphagia 10.0
48 bardet-biedl syndrome 17 10.0 GLI2 SHH
49 barrett esophagus 10.0
50 pharyngitis 10.0

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:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 GAL GLI3 CHD7 GLI2 EFTUD2 MYCN
2 cellular MP:0005384 10.24 GAL CHD7 GLI2 MYCN GLI3 LPP
3 mortality/aging MP:0010768 10.2 FOXF1 CHD7 GLI2 EFTUD2 MYCN GLI3
4 behavior/neurological MP:0005386 10.19 GLI2 GAL CHD7 EFTUD2 MYCN SOX2
5 digestive/alimentary MP:0005381 10.17 FOXF1 GLI3 CHD7 GLI2 SHH NOG
6 embryo MP:0005380 10.16 FOXF1 CHD7 GLI2 MYCN GLI3 NOG
7 growth/size/body region MP:0005378 10.14 GLI2 GAL CHD7 NOG MYCN GLI3
8 craniofacial MP:0005382 10.12 CHD7 GLI2 MYCN GLI3 NOG SOX2
9 endocrine/exocrine gland MP:0005379 10.09 GAL CHD7 GLI2 NOG GLI3 SOX2
10 nervous system MP:0003631 10.06 GAL CHD7 GLI2 MYCN GLI3 NOG
11 hearing/vestibular/ear MP:0005377 10 CHD7 GLI2 GLI3 NOG SOX2 SHH
12 muscle MP:0005369 9.98 FOXF1 CHD7 GLI2 MYCN NOG SOX2
13 integument MP:0010771 9.97 GLI2 GAL NOG GLI3 SOX2 SHH
14 reproductive system MP:0005389 9.97 GAL GLI3 CHD7 GLI2 MYCN SHH
15 limbs/digits/tail MP:0005371 9.95 CHD7 GLI2 MYCN GLI3 NOG SHH
16 respiratory system MP:0005388 9.86 FOXF1 GLI3 CHD7 GLI2 SHH NOG
17 normal MP:0002873 9.85 GLI2 NOG MYCN GLI3 SOX2 SHH
18 skeleton MP:0005390 9.7 CHD7 GLI2 MYCN GLI3 NOG SOX2
19 taste/olfaction MP:0005394 9.26 GLI3 NOG SOX2 SHH
20 vision/eye MP:0005391 9.17 CHD7 GLI2 MYCN GLI3 NOG SOX2

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,Not Applicable
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 160954
13
Ropivacaine Approved 84057-95-4 71273 175805
14 Micronutrients Not Applicable
15 Trace Elements Not Applicable
16 Vitamins Not Applicable
17 Anesthetics
18 Anesthetics, Local
19 Central Nervous System Depressants
20 Peripheral Nervous System Agents
21 lysine Nutraceutical Not Applicable

Interventional clinical trials:

(show all 17)
# 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 Not Applicable
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 Not Applicable
10 National Register of Oesophageal Atresia Recruiting NCT02883725
11 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705 Not Applicable
12 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
13 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
14 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
15 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
16 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865 Not Applicable
17 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 29

Anatomical Context for Esophageal Atresia

MalaCards organs/tissues related to Esophageal Atresia:

41
Lung, Heart, Colon, Trachea, Brain, Pancreas, Bone

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 798)
# Title Authors Year
1
Structural airway abnormalities contribute to dysphagia in children with esophageal atresia and tracheoesophageal fistula. ( 29429770 )
2018
2
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
3
Impaired FGF10 Signaling and Epithelial Development in Experimental Lung Hypoplasia With Esophageal Atresia. ( 29732364 )
2018
4
The experience of breastfeeding infants affected by congenital diaphragmatic hernia or esophageal atresia. ( 29970173 )
2018
5
Repair of congenital esophageal atresia with tracheoesophageal fistula repair in Ontario over the last 20years: Volume and outcomes. ( 29519572 )
2018
6
Impact of Esophageal Atresia on the Success of Fundoplication for Gastroesophageal Reflux. ( 29628411 )
2018
7
The Distended Fetal Hypopharynx: A Sensitive and Novel Sign for the Prenatal Diagnosis of Esophageal Atresia. ( 29622396 )
2018
8
Location of TEF at the carina as an indicator of long-gap C-type esophageal atresia. ( 29931283 )
2018
9
Magnetic Compression Anastomosis in Long-Gap Esophageal Atresia Gross Type A: A Case Report. ( 29796381 )
2018
10
MUSCLE-SPARING VERSUS STANDARD POSTEROLATERAL THORACOTOMY IN NEONATES WITH ESOPHAGEAL ATRESIA. ( 29972393 )
2018
11
Experience with fully covered self-expandable metal stents for anastomotic stricture following esophageal atresia repair. ( 29939253 )
2018
12
Thoracoscopic posterior tracheopexy during primary esophageal atresia repair: a new approach to prevent tracheomalacia complications. ( 29804792 )
2018
13
Congenital Esophageal Atresia-Surgical Treatment Results in the Context of Quality of Life. ( 29635651 )
2018
14
Pre- and post-operative visualization of neonatal esophageal atresia/tracheoesophageal fistula via magnetic resonance imaging. ( 29399473 )
2018
15
Congenital Heart Disease and Its Impact on the Development of Anastomotic Strictures after Reconstruction of Esophageal Atresia. ( 29887883 )
2018
16
Etiological heterogeneity and clinical variability in newborns with esophageal atresia. ( 29373986 )
2018
17
Quality of Life in Parents of Children Born with Esophageal Atresia. ( 29920636 )
2018
18
Anastomotic Strictures after Esophageal Atresia Repair: Timing of Dilatation during the First Two Postoperative Years. ( 29740616 )
2018
19
Basic Knowledge of Tracheoesophageal Fistula and Esophageal Atresia. ( 29373345 )
2018
20
Identification of rare heterozygous missense mutations in FANCA in esophageal atresia patients using next-generation sequencing. ( 29621589 )
2018
21
Characteristics and outcomes of children with ductal-dependent congenital heart disease and esophageal atresia/tracheoesophageal fistula: A multi-institutional analysis. ( 29325785 )
2018
22
Neurodevelopmental outcomes of infants with esophageal atresia and tracheoesophageal fistula. ( 29429769 )
2018
23
Kluth Type IIIb<sub>6</sub> Esophageal Atresia: Diagnostic Dilemma and Pitfalls of Using Infant Feeding Tube. ( 29681702 )
2018
24
Oral feeding outcomes in infants with esophageal atresia and tracheoesophageal fistula. ( 29519575 )
2018
25
Double Supercharged Jejunal Interposition for Late Salvage of Long-gap Esophageal Atresia. ( 29905609 )
2018
26
Intentional tracheoesophageal fistula cannulation for gastric decompression in type C esophageal atresia. ( 29484765 )
2018
27
Congenital Esophageal Atresia and Microtia in a Newborn Secondary to Mycophenolate Mofetil Exposure During Pregnancy: A Case Report and Review of the Literature. ( 29720579 )
2018
28
The Esophageal-atresia-Quality-of-life questionnaires: feasibility, validity and reliability in Sweden and Germany. ( 29738345 )
2018
29
Eosinophilic esophagitis and esophageal atresia: coincidence or causality? ( 29333824 )
2018
30
Esophageal Atresia with Tracheoesophageal Fistula and Gastroesophageal Reflux in Children: Dental Considerations and Case Report. ( 29750630 )
2018
31
Prevalence of Laryngeal Cleft in Pediatric Patients With Esophageal Atresia. ( 29270628 )
2018
32
Esophageal atresia and Beckwith-Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report. ( 29445485 )
2018
33
Management and outcome of neonates with a prenatal diagnosis of esophageal atresia type A: A population-based study. ( 29739032 )
2018
34
Laryngotracheal anomalies associated with esophageal atresia: importance of early diagnosis. ( 29299746 )
2018
35
Esophageal atresia with distal fistula - unusual case series. Considerations related to epidemiological aspects, malformative associations, and prenatal diagnosis. ( 29250692 )
2017
36
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
37
Comparison of outcomes of thoracoscopic primary repair of gross type C esophageal atresia performed by qualified and non-qualified surgeons. ( 28801747 )
2017
38
Preliminary Study of Video-Based Pediatric Endoscopic Surgical Skill Assessment Using a Neonatal Esophageal Atresia/Tracheoesophageal Fistula Model. ( 27858521 )
2017
39
Review of surgical and anesthetic management for esophageal atresia with tracheoesophageal fistula, unilateral pulmonary agenesis and dextrocardia. ( 28417152 )
2017
40
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
41
Intraoperative acidosis and hypercapnia during thoracoscopic repair of congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. ( 28631351 )
2017
42
Management of neonates with right-sided aortic arch and esophageal atresia: International survey on IPEG AND ESPES membersA' experience. ( 29241961 )
2017
43
No Tissue Expression of KRAS or BRAF Mutations in 61 Adult Patients Treated for Esophageal Atresia in Early Childhood. ( 28873491 )
2017
44
Surveillance in Patients With Esophageal Atresia/Tracheoesophageal Fistula. ( 28144844 )
2017
45
Posterior Tracheopexy for Severe Tracheomalacia Associated with Esophageal Atresia (EA): Primary Treatment at the Time of Initial EA Repair versus Secondary Treatment. ( 29379786 )
2017
46
Chewing Function in Children with Repaired Esophageal Atresia-Tracheoesophageal Fistula. ( 29212093 )
2017
47
Isolated tracheoesophageal fistula versus esophageal atresia - Early morbidity and short-term outcome. A single institution series. ( 28166998 )
2017
48
Dilations of anastomotic strictures over time after repair of esophageal atresia. ( 27844168 )
2017
49
Clinical Study of Congenital Esophageal Stenosis: Comparison according to Association of Esophageal Atresia and Tracheoesophageal Fistula. ( 28730131 )
2017
50
Utilizing stricture indices to predict dilation of strictures after esophageal atresia repair. ( 28807203 )
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 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)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.99 FOXF1 GLI2 GLI3 SHH
2 axon guidance GO:0007411 9.97 GLI2 GLI3 NOG SHH
3 negative regulation of canonical Wnt signaling pathway GO:0090090 9.95 GLI3 NOG SHH SOX2
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 skeletal system development GO:0001501 9.91 CHD7 GLI2 NOG
7 central nervous system development GO:0007417 9.91 CHD7 GLI3 NOG SHH
8 kidney development GO:0001822 9.9 GLI2 GLI3 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 roof of mouth development GO:0060021 9.88 CHD7 GLI3 SHH
13 forebrain development GO:0030900 9.87 GLI3 SHH SOX2
14 negative regulation of cell differentiation GO:0045596 9.86 GLI3 NOG SHH
15 camera-type eye development GO:0043010 9.85 CHD7 GLI3 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 anatomical structure development GO:0048856 9.79 GLI2 GLI3 SHH
21 pituitary gland development GO:0021983 9.79 GLI2 NOG SOX2
22 pattern specification process GO:0007389 9.78 GLI2 GLI3 NOG SHH
23 developmental growth GO:0048589 9.77 GLI2 GLI3 SHH
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.77 FOXF1 MYCN SHH
25 branching involved in ureteric bud morphogenesis GO:0001658 9.76 GLI3 SHH
26 dorsal/ventral pattern formation GO:0009953 9.76 GLI2 GLI3 NOG SHH
27 embryonic organ development GO:0048568 9.75 GLI3 SHH
28 embryonic skeletal system development GO:0048706 9.75 NOG SHH
29 metanephros development GO:0001656 9.75 GLI3 SHH
30 mammary gland development GO:0030879 9.75 GLI2 GLI3
31 oligodendrocyte differentiation GO:0048709 9.75 GLI3 SHH
32 T cell differentiation in thymus GO:0033077 9.75 GLI3 SHH
33 embryonic hindlimb morphogenesis GO:0035116 9.74 CHD7 SHH
34 neuron fate commitment GO:0048663 9.74 GLI3 SHH
35 positive regulation of protein import into nucleus GO:0042307 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 lung morphogenesis GO:0060425 9.74 FOXF1 NOG SHH
41 positive regulation of neuroblast proliferation GO:0002052 9.73 GLI3 SHH
42 osteoblast development GO:0002076 9.73 GLI2 SHH
43 embryonic morphogenesis GO:0048598 9.73 GLI3 SHH
44 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 FOXF1 SHH
45 spinal cord motor neuron differentiation GO:0021522 9.73 GLI2 GLI3 SHH
46 limb development GO:0060173 9.73 CHD7 GLI3 NOG SHH
47 somite development GO:0061053 9.72 NOG SHH
48 dorsal/ventral neural tube patterning GO:0021904 9.72 GLI2 SHH
49 embryonic digestive tract morphogenesis GO:0048557 9.72 FOXF1 GLI3 SHH
50 negative thymic T cell selection GO:0045060 9.71 GLI3 SHH

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.85 FOXF1 GLI2 GLI3 MYCN SOX2 TEF
2 DNA binding GO:0003677 9.8 CHD7 FOXF1 GLI2 GLI3 MYCN SOX2
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.62 CHD7 GLI2 GLI3 MYCN
4 sequence-specific DNA binding GO:0043565 9.55 FOXF1 GLI2 GLI3 SOX2 TEF
5 DNA binding transcription factor activity GO:0003700 9.43 FOXF1 GLI2 GLI3 MYCN SOX2 TEF
6 promoter-specific chromatin binding GO:1990841 9.4 CHD7 GLI2
7 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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