MCID: ESP020
MIFTS: 54

Esophageal Atresia

Categories: Gastrointestinal diseases, Rare 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
SNOMED-CT 68 26179002
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 tracheoesophageal fistula. 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, colon and heart, and related phenotypes are mortality/aging 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 155)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 33.9 TEF LPP
2 tracheoesophageal fistula 32.3 SOX2 SHH NOG MYCN LPP GLI3
3 vacterl association 32.2 SHH LPP FOXF1
4 anus, imperforate 30.4 TEF GLI3
5 choanal atresia, posterior 30.3 EFTUD2 CHD7
6 microphthalmia 30.1 SOX2 SHH GLI2
7 tracheoesophageal fistula with or without esophageal atresia 12.5
8 anophthalmia esophageal atresia cryptorchidism 12.1
9 esophageal atresia coloboma talipes 12.1
10 microphthalmia, syndromic 3 12.1
11 vater/vacterl association 11.5
12 arroyo garcia cimadevilla syndrome 11.5
13 fanconi anemia, complementation group b 11.2
14 diarrhea 5, with tufting enteropathy, congenital 11.2
15 anophthalmos with limb anomalies 11.2
16 methimazole antenatal exposure 11.2
17 gastroesophageal reflux 10.5
18 tracheomalacia 10.4
19 diaphragmatic hernia, congenital 10.4
20 lung agenesis 10.4
21 esophagitis 10.4
22 pyloric stenosis 10.3
23 duodenal atresia 10.2
24 esophagitis, eosinophilic, 1 10.2
25 hypertrophic pyloric stenosis 10.2
26 right aortic arch 10.2
27 dysphagia 10.2
28 holoprosencephaly 4 10.2 SHH GLI3
29 barrett esophagus 10.2
30 mandibulofacial dysostosis, guion-almeida type 10.2 EFTUD2 CHD7
31 pleuropulmonary blastoma 10.2 SHH MYCN
32 midline interhemispheric variant of holoprosencephaly 10.1 SHH GLI2
33 synovial chondromatosis 10.1 NOG GLI3
34 septopreoptic holoprosencephaly 10.1 SHH GLI2
35 heart disease 10.1
36 alobar holoprosencephaly 10.1 SHH GLI2
37 lobar holoprosencephaly 10.1 SHH GLI2
38 ritscher-schinzel syndrome 10.1 FOXF1 CHD7
39 culler-jones syndrome 10.1 GLI3 GLI2
40 adult medulloblastoma 10.1 SHH MYCN
41 microform holoprosencephaly 10.1 SHH GLI2
42 nonspecific interstitial pneumonia 10.1 SHH FOXF1
43 coloboma of macula 10.1 SOX2 SHH CHD7
44 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.1 SHH GLI2
45 central nervous system cancer 10.1 SOX2 SHH MYCN
46 semilobar holoprosencephaly 10.1 SHH GLI2
47 schizencephaly 10.1 SOX2 SHH
48 fryns microphthalmia syndrome 10.1
49 tracheal stenosis 10.1
50 pneumonia 10.1

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 mortality/aging MP:0010768 10.26 CHD7 EFTUD2 FOXF1 GLI2 GLI3 LPP
2 cellular MP:0005384 10.24 CHD7 GLI2 GLI3 LPP MYCN NOG
3 digestive/alimentary MP:0005381 10.22 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
4 embryo MP:0005380 10.21 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
5 homeostasis/metabolism MP:0005376 10.21 CHD7 EFTUD2 GLI2 GLI3 LPP MYCN
6 craniofacial MP:0005382 10.18 CHD7 GLI2 GLI3 MYCN NOG SHH
7 cardiovascular system MP:0005385 10.14 CHD7 FOXF1 GLI3 MYCN NOG SHH
8 growth/size/body region MP:0005378 10.14 CHD7 GLI2 GLI3 MYCN NOG SHH
9 endocrine/exocrine gland MP:0005379 10.09 CHD7 GLI2 GLI3 NOG SHH SOX2
10 nervous system MP:0003631 10.09 CHD7 GLI2 GLI3 MYCN NOG SHH
11 hearing/vestibular/ear MP:0005377 10.07 CHD7 GLI2 GLI3 NOG SHH SOX2
12 muscle MP:0005369 10 CHD7 FOXF1 GLI2 MYCN NOG SHH
13 limbs/digits/tail MP:0005371 9.97 CHD7 GLI2 GLI3 MYCN NOG SHH
14 reproductive system MP:0005389 9.92 CHD7 GLI2 GLI3 LPP MYCN NOG
15 respiratory system MP:0005388 9.91 CHD7 FOXF1 GLI2 GLI3 MYCN NOG
16 normal MP:0002873 9.85 GLI2 GLI3 MYCN NOG SHH SOX2
17 no phenotypic analysis MP:0003012 9.8 GLI2 GLI3 MYCN SHH SOX2
18 skeleton MP:0005390 9.76 CHD7 GLI2 GLI3 MYCN NOG SHH
19 taste/olfaction MP:0005394 9.26 GLI3 NOG SHH SOX2
20 vision/eye MP:0005391 9.23 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 38)
# 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 Proton Pump Inhibitors Phase 3
5 Gastrointestinal Agents Phase 3
6 Pharmaceutical Solutions Phase 2,Not Applicable
7 Omega 3 Fatty Acid Phase 2
8 Fat Emulsions, Intravenous Phase 2
9 Soybean oil, phospholipid emulsion Phase 2
10 Soy Bean Phase 2
11 Parenteral Nutrition Solutions Phase 2
12
Nitric Oxide Approved 10102-43-9 145068
13
Ropivacaine Approved 84057-95-4 175805 71273
14
Chlorhexidine Approved, Vet_approved Not Applicable 55-56-1 2713 9552079
15
Hydroxocobalamin Approved Not Applicable 13422-51-0 11953898 44475014
16
Methylcobalamin Approved, Experimental, Investigational Not Applicable 13422-55-4
17
leucovorin Approved Not Applicable 58-05-9 6006 143
18
Ranitidine Approved 66357-35-5, 66357-59-3 3001055
19
Cyanocobalamin Approved, Nutraceutical Not Applicable 68-19-9 44176380
20
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
21
Cobalamin Experimental Not Applicable 13408-78-1 6438156
22 Micronutrients Not Applicable
23 Vitamins Not Applicable
24 Trace Elements Not Applicable
25 lysine Not Applicable
26 Anesthetics, Local
27 Central Nervous System Depressants
28 Peripheral Nervous System Agents
29 Anesthetics
30 Chlorhexidine gluconate Not Applicable
31 Vitamin B9 Not Applicable
32 Vitamin B Complex Not Applicable
33 Folate Not Applicable
34 Hematinics Not Applicable
35 Vitamin B 12 Not Applicable
36 Vitamin B12 Not Applicable
37 Histamine H2 Antagonists
38 Ranitidine bismuth citrate

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Transanastomotic Tube for Proximal Esophageal Atresia With Distal Tracheoesophageal Fistula Repair Recruiting NCT03730454 Phase 4
2 Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants. Unknown status NCT00226044 Phase 3 Omeprazole suppository
3 Omega 3 Fatty Acid Treatment for Pediatric Musculoskeletal Health Not yet recruiting NCT03127345 Phase 2 Omegaven;Intralipid
4 Open or Keyhole Surgery Through the Chest for Newborn Babies: Effect on Blood Gases Unknown status NCT01467245 Not Applicable
5 High-resolution Esophageal Manometry Completed NCT03415893
6 Esophageal Atresia: Metaplasia, Barrett Completed NCT02495051
7 Chewing in Children With Repaired Esophageal Atresia-tracheoesophageal Fistula Completed NCT03026491
8 Study in Children With the Diagnosis of Congenital Diaphragmatic Hernia (CDH) and Oesophageal Atresia (EA) Completed NCT02466451
9 Prospective Data Collection of Patients < 6 Months of Age Undergoing Thoracoscopic Surgery Completed NCT02033772
10 Determination of Lysine Requirement in the Parenterally Fed Neonate Completed NCT00779753 Not Applicable
11 National Register of Oesophageal Atresia Recruiting NCT02883725
12 Cardiorespiratory Performance and Pulmonary Microbiome in Patients After Repair of Esophageal Atresia Recruiting NCT03767673 Not Applicable
13 Flourish™ Pediatric Esophageal Atresia Recruiting NCT03615495
14 Dumping Syndrome After Operation of Esophageal Atresia Type III Recruiting NCT02525705 Not Applicable
15 Blood Ropivacaine Concentrations Following Nerve Block in Infants and Toddlers Undergoing Esophageal Atresia Repair Recruiting NCT02860091 Ropivacaine infusion
16 The Impact of the Birth of a Child With a Rare Abdomino-thoracic Malformation Recruiting NCT03565822 Not Applicable
17 Relevance of Gastric Aspirate in HCMV Detection Recruiting NCT03262194
18 Effectiveness of Comprehensive Tertiary Interventions on Incidence and Clinical Outcomes of Birth Defects Recruiting NCT03725878 Not Applicable
19 Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries Recruiting NCT03666767
20 Phenotypic and Genetic Assessment of Tracheal and Esophageal Birth Defects in Patients Recruiting NCT03455881
21 Innovative Approaches to Assessment of Pain Control and Sedation in the NICU Recruiting NCT03057782
22 Individualized Management for Long Gap Esophageal Atresia Not yet recruiting NCT03023865 Not Applicable
23 Management of Esophagitis Following Repair of Esophageal Atresia Not yet recruiting NCT03619408 Antacids

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, Colon, Heart, Trachea, Pancreas, Brain, Thyroid

Publications for Esophageal Atresia

Articles related to Esophageal Atresia:

(show top 50) (show all 1164)
# 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
Laryngotracheoesophageal cleft, a rare differential diagnosis of esophageal atresia. ( 30232040 )
2018
34
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? ( 30245899 )
2018
35
Generic Health-Related Quality of Life after Repair of Esophageal Atresia and Its Determinants within a German-Swedish Cohort. ( 30261518 )
2018
36
Vocal cord dysfunction following esophageal atresia and tracheoesophageal fistula (EA/TEF) repair. ( 30274710 )
2018
37
Prevalence and natural history of scoliosis and associated congenital vertebral anomalies in patients operated for esophageal atresia with or without tracheoesophageal fistula. ( 30301608 )
2018
38
Magnetic compression anastomosis (magnamosis) in a porcine esophagus: Proof of concept for potential application in esophageal atresia. ( 30309731 )
2018
39
Right or left thoracotomy for esophageal atresia and right aortic arch? Systematic review and surgicoanatomic justification. ( 30318282 )
2018
40
Prenatal diagnosis of esophageal atresia: A case of triple negative screening. ( 30347256 )
2018
41
Relationships between hospital and surgeon operative volumes and outcomes of esophageal atresia/tracheoesophageal fistula repair. ( 30401496 )
2018
42
Post-operative paralysis and elective ventilation reduces anastomotic complications in esophageal atresia: a systematic review and meta-analysis. ( 30415438 )
2018
43
Polyurethane scaffolds seeded with autologous cells can regenerate long esophageal gaps: An esophageal atresia treatment model. ( 30429066 )
2018
44
Physical Fitness and Locomotor Skills in Children With Esophageal Atresia-A Case Control Pilot Study. ( 30460218 )
2018
45
Pneumonia after Repair of Esophageal Atresia-Incidence and Main Risk Factors. ( 30469161 )
2018
46
Closer location of the tracheoesophageal fistula to the carina in newborns with esophageal atresia and VACTERL association. ( 30503021 )
2018
47
Suture fistula revisited for long gap esophageal atresia. ( 30527759 )
2018
48
Analysis of eosinophilic esophagitis in children with repaired congenital esophageal atresia. ( 30527929 )
2018
49
What is the impact of the use of transanastomotic feeding tube on patients with esophageal atresia: a systematic review and meta-analysis. ( 30541487 )
2018
50
Esophageal atresia, Europe, and the future: BAPS Journal of Pediatric Surgery Lecture. ( 30545729 )
2018

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 nucleus GO:0005634 9.32 CHD7 EFTUD2 FOXF1 GLI2 GLI3 LPP
2 ciliary tip GO:0097542 9.16 GLI2 GLI3
3 ciliary base GO:0097546 8.96 GLI2 GLI3

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

(show top 50) (show all 77)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.98 FOXF1 GLI2 GLI3 SHH
2 axon guidance GO:0007411 9.97 GLI2 GLI3 NOG SHH
3 regulation of gene expression GO:0010468 9.93 GLI3 SHH SOX2
4 skeletal system development GO:0001501 9.92 CHD7 GLI2 NOG TCOF1
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.91 GLI3 NOG SHH SOX2
6 kidney development GO:0001822 9.89 GLI2 GLI3 SHH
7 anterior/posterior pattern specification GO:0009952 9.89 GLI2 GLI3 SHH
8 osteoblast differentiation GO:0001649 9.89 GLI2 NOG SOX2
9 central nervous system development GO:0007417 9.88 CHD7 GLI3 NOG SHH
10 forebrain development GO:0030900 9.87 GLI3 SHH SOX2
11 camera-type eye development GO:0043010 9.86 CHD7 GLI3 SHH
12 roof of mouth development GO:0060021 9.86 CHD7 GLI3 SHH
13 negative regulation of cell differentiation GO:0045596 9.85 GLI3 NOG SHH
14 odontogenesis of dentin-containing tooth GO:0042475 9.85 GLI2 GLI3 SHH
15 inner ear development GO:0048839 9.85 GLI3 SHH SOX2
16 neural tube development GO:0021915 9.83 GLI2 GLI3 NOG
17 lung development GO:0030324 9.83 FOXF1 GLI2 GLI3 SHH
18 in utero embryonic development GO:0001701 9.83 CHD7 FOXF1 GLI2 GLI3 NOG
19 developmental growth GO:0048589 9.78 GLI2 GLI3 SHH
20 smoothened signaling pathway GO:0007224 9.78 FOXF1 GLI2 GLI3 SHH
21 pituitary gland development GO:0021983 9.77 GLI2 NOG SOX2
22 branching morphogenesis of an epithelial tube GO:0048754 9.77 GLI2 GLI3 SHH
23 pattern specification process GO:0007389 9.76 GLI2 GLI3 NOG SHH
24 branching involved in ureteric bud morphogenesis GO:0001658 9.75 GLI3 SHH
25 embryonic skeletal system development GO:0048706 9.75 NOG SHH
26 mammary gland development GO:0030879 9.75 GLI2 GLI3
27 metanephros development GO:0001656 9.75 GLI3 SHH
28 embryonic organ development GO:0048568 9.75 GLI3 SHH
29 anatomical structure development GO:0048856 9.75 GLI2 GLI3 SHH
30 positive regulation of protein import into nucleus GO:0042307 9.74 GLI3 SHH
31 oligodendrocyte differentiation GO:0048709 9.74 GLI3 SHH
32 T cell differentiation in thymus GO:0033077 9.74 GLI3 SHH
33 neuron fate commitment GO:0048663 9.74 GLI3 SHH
34 embryonic hindlimb morphogenesis GO:0035116 9.74 CHD7 SHH
35 pancreas development GO:0031016 9.74 FOXF1 SHH
36 positive regulation of mesenchymal cell proliferation GO:0002053 9.74 FOXF1 SHH
37 proximal/distal pattern formation GO:0009954 9.73 GLI2 GLI3
38 renal system development GO:0072001 9.73 FOXF1 SHH
39 positive regulation of neuroblast proliferation GO:0002052 9.73 GLI3 SHH
40 hindbrain development GO:0030902 9.73 GLI2 SHH
41 osteoblast development GO:0002076 9.73 GLI2 SHH
42 epithelial tube branching involved in lung morphogenesis GO:0060441 9.73 FOXF1 SHH
43 embryonic morphogenesis GO:0048598 9.72 GLI3 SHH
44 somite development GO:0061053 9.72 NOG SHH
45 prostate gland development GO:0030850 9.72 GLI3 SHH
46 dorsal/ventral neural tube patterning GO:0021904 9.72 GLI2 SHH
47 lung morphogenesis GO:0060425 9.72 FOXF1 NOG SHH
48 negative thymic T cell selection GO:0045060 9.71 GLI3 SHH
49 positive regulation of alpha-beta T cell differentiation GO:0046638 9.71 GLI3 SHH
50 positive regulation of T cell differentiation in thymus GO:0033089 9.71 GLI2 SHH

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.8 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 9.67 CHD7 GLI2 GLI3 MYCN
4 transcription regulatory region DNA binding GO:0044212 9.61 FOXF1 GLI2 SOX2
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 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.02 GLI2 GLI3 MYCN SOX2 TEF
8 protein binding GO:0005515 10.14 CHD7 EFTUD2 GLI2 GLI3 LPP MYCN

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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