TOF
MCID: TTR001
MIFTS: 70

Tetralogy of Fallot (TOF)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 58 12 54 60 76 38 30 13 6 45 15 64 41
Tof 58 54 76
Fallot Tetralogy 77 54
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 12

Characteristics:

Orphanet epidemiological data:

60
tetralogy of fallot
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
tetralogy of fallot:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:6419
OMIM 58 187500
KEGG 38 H00549
ICD9CM 36 745.2
MeSH 45 D013771
NCIt 51 C84505
SNOMED-CT 69 86299006
ICD10 34 Q21.3
MESH via Orphanet 46 D013771
ICD10 via Orphanet 35 Q21.3
UMLS via Orphanet 75 C0039685
Orphanet 60 ORPHA3303
MedGen 43 C0039685
UMLS 74 C0039685

Summaries for Tetralogy of Fallot

NIH Rare Diseases : 54 Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed. 

MalaCards based summary : Tetralogy of Fallot, also known as tof, is related to conotruncal heart malformations and transposition of the great arteries. An important gene associated with Tetralogy of Fallot is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Notch signaling pathway and Mesodermal Commitment Pathway. The drugs Eplerenone and Natriuretic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and testes, and related phenotypes are abnormal nasal morphology and intrauterine growth retardation

UniProtKB/Swiss-Prot : 76 Tetralogy of Fallot: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.

PubMed Health : 64 About tetralogy of fallot: Tetralogy (teh-TRAL-o-je) of Fallot (fah-LO) is a congenital heart defect. This is a problem with the heart's structure that's present at birth. Congenital heart defects change the normal flow of blood through the heart.Tetralogy of Fallot is a rare, complex heart defect. It occurs in about 5 out of every 10,000 babies. The defect affects boys and girls equally.To understand tetralogy of Fallot, it helps to know how a healthy heart works. The Health Topics How the Heart Works article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart's electrical system works.

Wikipedia : 77 Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms at birth may vary from... more...

Description from OMIM: 187500

Related Diseases for Tetralogy of Fallot

Diseases in the Tetralogy of Fallot family:

Tetralogy of Fallot Syndrome, Autosomal Recessive

Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 576)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 32.9 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
2 transposition of the great arteries 31.8 GATA5 GDF1 NKX2-5
3 pulmonic stenosis 31.6 GATA4 GATA5 JAG1
4 atrioventricular septal defect 31.5 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
5 atrial heart septal defect 31.3 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX20
6 patent ductus arteriosus 1 31.2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
7 double outlet right ventricle 31.2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
8 diaphragmatic hernia, congenital 31.1 GATA4 GATA6 ZFPM2
9 ventricular septal defect 31.1 CITED2 GATA4 GATA5 GATA6 GDF1 JAG1
10 pulmonary valve stenosis 30.9 GATA4 JAG1 NKX2-6
11 tricuspid atresia 30.6 GDF1 NKX2-6 ZFPM2
12 aortic valve disease 1 30.6 GATA5 NKX2-5 NKX2-6 NOTCH1 TBX20
13 heart disease 30.5 CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
14 ebstein anomaly 30.4 GATA4 GDF1 NKX2-5 NKX2-6
15 hypoplastic left heart syndrome 30.4 NKX2-5 NKX2-6 NOTCH1 TBX20
16 eisenmenger syndrome 30.4 CITED2 GATA4 NKX2-5
17 dilated cardiomyopathy 30.1 GATA4 GJA5 MT-CO1 NKX2-5 TBX20
18 patent foramen ovale 30.0 CITED2 GATA4 GATA6 NKX2-5 NKX2-6 TBX20
19 total anomalous pulmonary venous return 1 30.0 GDF1 NKX2-6
20 tetralogy of fallot and glaucoma 12.6
21 hypertelorism and tetralogy of fallot 12.4
22 tetralogy of fallot syndrome, autosomal recessive 12.4
23 duodenal atresia tetralogy of fallot 12.4
24 complete atrioventricular canal-tetralogy of fallot syndrome 12.4
25 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 12.4
26 digeorge syndrome 11.6
27 pulmonary atresia with ventricular septal defect 11.6
28 deafness, congenital heart defects, and posterior embryotoxon 11.6
29 ritscher-schinzel syndrome 1 11.4
30 congenital heart defects, multiple types, 6 11.4
31 adams-oliver syndrome 1 11.3
32 heart defects, congenital, and other congenital anomalies 11.3
33 fallot complex with severe mental and growth retardation 11.3
34 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
35 ventricular septal defect 1 11.3
36 ventricular septal defect 3 11.3
37 adams-oliver syndrome 5 11.3
38 adams-oliver syndrome 6 11.3
39 structural heart defects and renal anomalies syndrome 11.3
40 congenital heart defects, multiple types, 5 11.3
41 ritscher-schinzel syndrome 11.3
42 chaotic atrial tachycardia 11.3
43 maternal hyperphenylalaninemia 11.3
44 phenobarbital antenatal exposure 11.3
45 pulmonary valve insufficiency 10.9
46 multiple sclerosis 10.9
47 partial atrioventricular canal 10.6 GATA4 GATA6
48 complete atrioventricular canal-ventricle hypoplasia syndrome 10.6 GATA4 GATA6
49 endocarditis 10.6
50 complete atrioventricular canal 10.6

Graphical network of the top 20 diseases related to Tetralogy of Fallot:



Diseases related to Tetralogy of Fallot

Symptoms & Phenotypes for Tetralogy of Fallot

Human phenotypes related to Tetralogy of Fallot:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal nasal morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005105
2 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
3 broad forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000337
4 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
5 brachydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001156
6 dolichocephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000268
7 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
8 tetralogy of fallot 60 33 frequent (33%) Frequent (79-30%) HP:0001636
9 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
10 thin vermilion border 60 33 frequent (33%) Frequent (79-30%) HP:0000233
11 preauricular pit 60 33 frequent (33%) Frequent (79-30%) HP:0004467
12 underdeveloped supraorbital ridges 60 33 frequent (33%) Frequent (79-30%) HP:0009891

Symptoms via clinical synopsis from OMIM:

58
Facies:
broad forehead
prominent eyes

Limbs:
fifth finger clinodactyly

Misc:
sib recurrence risk of 1% for tetralogy and 2% for any congenital heart defect

Cardiac:
tetralogy of fallot

Ears:
preauricular pits

Clinical features from OMIM:

187500

MGI Mouse Phenotypes related to Tetralogy of Fallot:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.51 CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
2 cellular MP:0005384 10.44 GATA4 GATA5 GATA6 GDF1 HIRA JAG1
3 growth/size/body region MP:0005378 10.36 CITED2 GATA4 GATA6 GDF1 HIRA JAG1
4 embryo MP:0005380 10.35 CITED2 GATA4 GATA6 GDF1 HIRA JAG1
5 homeostasis/metabolism MP:0005376 10.35 CITED2 GATA4 GATA5 GATA6 GJA5 HIRA
6 mortality/aging MP:0010768 10.31 CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
7 endocrine/exocrine gland MP:0005379 10.26 CITED2 GATA4 GATA5 GDF1 GJA5 JAG1
8 digestive/alimentary MP:0005381 10.25 CITED2 GATA4 GATA5 GDF1 GJA5 JAG1
9 hematopoietic system MP:0005397 10.24 CITED2 GATA4 GATA6 GDF1 GJA5 HIRA
10 immune system MP:0005387 10.2 CITED2 GATA5 GDF1 GJA5 HIRA MT-CO1
11 muscle MP:0005369 10.18 GATA4 GATA5 GATA6 GJA5 HIRA JAG1
12 craniofacial MP:0005382 10.16 CITED2 GDF1 HIRA JAG1 NIPBL NKX2-5
13 nervous system MP:0003631 10.02 CITED2 GATA4 GDF1 HIRA JAG1 NIPBL
14 normal MP:0002873 10 CITED2 GATA4 GATA6 GDF1 GJA5 JAG1
15 limbs/digits/tail MP:0005371 9.91 CITED2 GATA4 GATA6 NIPBL RET TBX1
16 no phenotypic analysis MP:0003012 9.86 GATA4 GJA5 HIRA JAG1 NKX2-5 RET
17 respiratory system MP:0005388 9.7 CITED2 GATA4 GATA6 GDF1 GJA5 NKX2-5
18 skeleton MP:0005390 9.28 CITED2 GATA4 GATA5 GDF1 HIRA JAG1

Drugs & Therapeutics for Tetralogy of Fallot

PubMedHealth treatment related to Tetralogy of Fallot: 64

Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The goal of surgery is to repair the four defects of tetralogy of Fallot so the heart can work as normally as possible. Repairing the defects can greatly improve a child's health and quality of life.The pediatric cardiologist and cardiac surgeon will decide the best time to do the surgery. They will base their decision on your baby's health and weight and the severity of the defects and symptoms.Some teenagers or adults who had tetralogy of Fallot repaired in childhood need additional surgery to correct heart problems that develop over time. For more information, go to "Living With Tetralogy of Fallot."

Drugs for Tetralogy of Fallot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
2 Natriuretic Agents Phase 4,Phase 2,Phase 3
3 Antihypertensive Agents Phase 4,Phase 2
4 diuretics Phase 4,Phase 2,Phase 3
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Mineralocorticoid Receptor Antagonists Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Mineralocorticoids Phase 4
10 Hormone Antagonists Phase 4
11
Dobutamine Approved Phase 3,Not Applicable 34368-04-2 36811
12 Natriuretic Peptide, Brain Phase 2, Phase 3,Not Applicable
13 Protective Agents Phase 3,Not Applicable
14 Adrenergic Agonists Phase 3,Phase 2,Phase 1,Not Applicable
15 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1,Not Applicable
16 Adrenergic Agents Phase 3,Phase 2,Phase 1,Not Applicable
17 Adrenergic beta-Agonists Phase 3,Not Applicable
18 Neurotransmitter Agents Phase 3,Phase 2,Phase 1,Not Applicable
19 Cardiotonic Agents Phase 3,Not Applicable
20 Autonomic Agents Phase 3,Not Applicable
21 Sympathomimetics Phase 3,Not Applicable
22
Losartan Approved Phase 2 114798-26-4 3961
23
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
24
Sodium Citrate Approved, Investigational Phase 2 68-04-2
25
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
26
Dexmedetomidine Approved, Vet_approved Phase 2,Phase 1 113775-47-6 5311068 68602
27
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
28
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
29 Angiotensin Receptor Antagonists Phase 2
30 Angiotensin II Type 1 Receptor Blockers Phase 2
31 Giapreza Phase 2
32 Angiotensinogen Phase 2
33 Anti-Arrhythmia Agents Phase 2
34 Anesthetics, General Phase 2
35 Anticoagulants Phase 2
36 Adrenergic alpha-Agonists Phase 2,Phase 1
37 Anesthetics Phase 2,Not Applicable
38 Hypnotics and Sedatives Phase 2,Phase 1
39 Anesthetics, Intravenous Phase 2
40 Adjuvants, Anesthesia Phase 2
41 Adrenergic alpha-2 Receptor Agonists Phase 2,Phase 1
42 Calcium, Dietary Phase 2
43 Analgesics, Opioid Phase 2
44 Narcotics Phase 2
45 Analgesics, Non-Narcotic Phase 2,Phase 1
46 Central Nervous System Depressants Phase 2,Phase 1
47 Chelating Agents Phase 2
48 Citrate Phase 2
49 Analgesics Phase 2,Phase 1
50
Parathyroid hormone Approved, Investigational 9002-64-6

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Myocardial Protection and Clinical Outcome in Patients Undergoing Tetralogy of Fallot Repair : A Randomized Study of Two Different Cardioplegia Technique Completed NCT02646254 Phase 4
2 The Effects of Eplerenone on Markers of Myocardial Fibrosis in Adult Congenital Heart Disease Terminated NCT01971593 Phase 4 Eplerenone
3 Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot Unknown status NCT01941576 Phase 2, Phase 3 recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
4 Multi-center Trial of Percutaneous Pulmonary Valve Implantation With Venus-p Unknown status NCT02590679 Phase 2, Phase 3
5 Cardiac Function Under Stress for Early Detection of the Right Ventricular Insufficiency After Repair of Tetralogy of Fallot Terminated NCT00564993 Phase 3 Dobutamin
6 Right Ventricular Dysfunction in Tetralogy of Fallot: Inhibition of the Renin-angiotensin-aldosterone System Unknown status NCT02010905 Phase 2 Losartan;Placebo
7 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
8 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
9 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
10 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
11 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Unknown status NCT02186691 Not Applicable
12 Biomodel in Tetralogy of Fallot Unknown status NCT00155428 Not Applicable
13 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
14 Exercise Training in Adults With Corrected Tetralogy of Fallot Completed NCT02643810 Not Applicable
15 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
16 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
17 Tetralogy of Fallot Seed Grant Completed NCT00722826
18 Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of Fallot Completed NCT00112320 Not Applicable
19 Right Ventricular Contractility Reserve Following Repair of Tetralogy of Fallot Completed NCT00557934 Not Applicable
20 Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) Patients Completed NCT01419756
21 Analysis of RV-Dysfunction in Fallot Patients Completed NCT03835494 Not Applicable
22 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
23 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
24 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
25 Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRI Completed NCT00489788
26 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
27 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Completed NCT02861963 Not Applicable
28 MRI Assessment of RV Function: Patients With TOF or Aortic Coarctation Completed NCT00277901
29 Pulmonary Artery Repair With Covered Stents Completed NCT01824160 Not Applicable
30 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
31 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
32 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
33 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230 Not Applicable
34 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
35 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
36 Pediatric REPlAcement of the PulmonaRy ValvE in Tetralogy of Fallot - Recruiting NCT03634072 Not Applicable
37 French National Registry of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator Recruiting NCT03837574
38 Imaging by 4 DFlow in Patients With Tetralogy of Fallot Recruiting NCT03542968 Not Applicable
39 Reoxygenation for Cyanotic Pediatric CHD Recruiting NCT03568357
40 4D Velocity Mapping of the Heart in rTOF Patients Recruiting NCT02980614 Not Applicable
41 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Recruiting NCT02967315 Not Applicable
42 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
43 Molecular and Cellular Characterization of Cardiac Tissue in Postnatal Development Recruiting NCT00243776
44 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
45 Integrated Computational modelIng of Right Heart Mechanics and Blood Flow Dynamics in Congenital Heart Disease Recruiting NCT03217240
46 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
47 Multicenter Study of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777 Not Applicable
48 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387 Not Applicable
49 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
50 Tetralogy of Fallot for Life Active, not recruiting NCT02968264

Search NIH Clinical Center for Tetralogy of Fallot

Cochrane evidence based reviews: tetralogy of fallot

Genetic Tests for Tetralogy of Fallot

Genetic tests related to Tetralogy of Fallot:

# Genetic test Affiliating Genes
1 Tetralogy of Fallot 30 GATA4 GATA6 JAG1 NKX2-5 TBX1 ZFPM2

Anatomical Context for Tetralogy of Fallot

MalaCards organs/tissues related to Tetralogy of Fallot:

42
Heart, Skin, Testes, Brain, Kidney, Neutrophil, Temporal Lobe

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 6216)
# Title Authors Year
1
Utility of Doppler Echocardiography to Estimate the Severity of Pulmonary Valve Regurgitation Fraction in Patients with Repaired Tetralogy of Fallot. ( 30600368 )
2019
2
Cardiovascular imaging approach in pre and postoperative tetralogy of Fallot. ( 30616556 )
2019
3
Metabolomics analysis in acute paraquat poisoning patients based on UPLC-Q-TOF-MS and machine learning approach. ( 30807114 )
2019
4
Time to reconsider when to re-valve for free pulmonary regurgitation in tetralogy of Fallot? ( 30663984 )
2019
5
Ramipril for left ventricular diastolic function in patients with pulmonary regurgitation after repair of tetralogy of Fallot. ( 30683331 )
2019
6
Ramipril for left ventricular diastolic function in patients with pulmonary regurgitation after repair of tetralogy of Fallot. ( 30683333 )
2019
7
Short-term clinical and echocardiographic outcomes after use of polytetrafluoroethylene bicuspid pulmonary valve during the repair of tetralogy of Fallot. ( 30745766 )
2019
8
Another Notch in the Genetic Puzzle of Tetralogy of Fallot. ( 30763217 )
2019
9
Usefulness of Red Blood Cell Distribution Width in the Assessment of Hemodynamics After Tetralogy of Fallot Repair. ( 30799372 )
2019
10
Impact of timing on in-patient outcomes of complete repair of tetralogy of Fallot in infancy: an analysis of the United States National Inpatient 2005-2011 database. ( 30808308 )
2019
11
The role of 3D imaging in the follow-up of patients with repaired tetralogy of Fallot. ( 30840295 )
2019
12
The effects of pulmonary valve replacement on QRS duration in repaired tetralogy of Fallot patients with pulmonary regurgitation. ( 30856514 )
2019
13
Severe right ventricular dilatation after repair of Tetralogy of Fallot is associated with increased left ventricular preload and stroke volume. ( 30874802 )
2019
14
Repair of Tetralogy of Fallot - Progress or Just a Moving Target? ( 30878398 )
2019
15
Evaluation of pulmonary regurgitation by using different cardiac magnetic resonance indices in children with repaired tetralogy of Fallot. ( 30897603 )
2019
16
Commentary: Valve-sparing approach to the hypoplastic pulmonary valve in tetralogy of Fallot repair. ( 30904249 )
2019
17
Histopathological evidence of aortopathy in newborns and infants with Tetralogy of Fallot at the time of the surgical repair. ( 30904751 )
2019
18
Determination of dynamic thiol/disulphide homeostasis in children with tetralogy of Fallot and ventricular septal defect. ( 30932800 )
2019
19
Cardiac Implantable Electronic Devices in Adults with Tetralogy of Fallot. ( 30961908 )
2019
20
Right ventricular remodeling after conduit replacement in patients with corrected tetralogy of Fallot - evaluation by cardiac magnetic resonance. ( 30987651 )
2019
21
A unique case of separate origins of left internal and external carotid arteries from high aortic arch with aberrant right subclavian artery - An unreported association in Tetralogy of Fallot. ( 31036405 )
2019
22
Assessment of airway abnormalities in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. ( 31044684 )
2019
23
Total root remodelling by the Sleeve technique for aortic regurgitation in patients with repaired tetralogy of Fallot. ( 31056643 )
2019
24
Right ventricular function in patients with pulmonary regurgitation with versus without tetralogy of Fallot. ( 31071505 )
2019
25
Perioperative Right Ventricular Systolic Function Determination in Children With Tetralogy of Fallot. ( 31076312 )
2019
26
Assessment of the Reconstructed Pulmonary Circulation With Lung Perfusion Scintigraphy After Unifocalization and Repair of Tetralogy of Fallot With Major Aortopulmonary Collaterals. ( 31084304 )
2019
27
Dermatophytic mycetoma of the scalp due to an atypical strain of Microsporum audouinii identified by MALDI-TOF MS and ITS sequencing. ( 30956063 )
2019
28
Bovine mastitis bacteria resolved by MALDI-TOF mass spectrometry. ( 30639010 )
2019
29
68Ga-NOTA-Evans Blue TOF PET/MR Lymphoscintigraphy Evaluation of the Severity of Lower Limb Lymphedema. ( 30985414 )
2019
30
Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography. ( 30121867 )
2019
31
Tetralogy of Fallot, Bicuspid Valves and a Single Origin Coronary: Uncorrected and Asymptomatic. ( 30145032 )
2019
32
Tetralogy of Fallot: Case-Based Update for the Treatment of Adult Congenital Patients. ( 30172549 )
2019
33
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. ( 30232381 )
2019
34
Always look at both sides of the heart: A double-orifice mitral valve discovered in a young adult with repaired tetralogy of Fallot. ( 31032874 )
2019
35
Shock to the heart: cardiac implantable devices' bad name in adults with tetralogy of Fallot. ( 30455176 )
2019
36
Tetralogy of Fallot with absent pulmonary valve-When the ductus is present: A case of isolated branch pulmonary artery and review of literature. ( 31006901 )
2019
37
Isolation of the left subclavian artery in an infant with tetralogy of Fallot, right aortic arch and DiGeorge syndrome. Echocardiographic diagnostic case study. ( 31088014 )
2019
38
EDUCATIONAL SERIES IN CONGENITAL HEART DISEASE: Tetralogy of Fallot: diagnosis to long-term follow-up. ( 30557849 )
2019
39
Assessment of ApoC1, LuzP6, C12orf75 and OCC-1 in cystic glioblastoma using MALDI-TOF mass spectrometry, immunohistochemistry and qRT-PCR. ( 31006040 )
2019
40
Endocarditis following IUD insertion in a patient with tetralogy of Fallot. ( 30737328 )
2019
41
Right-sided endocarditis from Staphylococcus lugdunensis in a patient with tetralogy of Fallot. ( 30915201 )
2019
42
Survival into sixth decade after a Potts palliation for Tetralogy of Fallot, complicated by shunt-infective endocarditis and massive pulmonary embolism. ( 31023738 )
2019
43
Effects of Platycodins Folium on Depression in Mice Based on a UPLC-Q/TOF-MS Serum Assay and Hippocampus Metabolomics. ( 31052597 )
2019
44
Investigation on Spectrum-Effect Correlation between Constituents Absorbed into Blood and Bioactivities of Baizhu Shaoyao San before and after Processing on Ulcerative Colitis Rats by UHPLC/Q-TOF-MS/MS Coupled with Gray Correlation Analysis. ( 30866532 )
2019
45
Lactococcus lactis cholangitis and bacteremia identified by MALDI-TOF mass spectrometry: A case report and review of the literature on Lactococcus lactis infection. ( 30100399 )
2019
46
Routine Detection of Atrial Fibrillation/Flutter Predicts a Worse Outcome in a Cohort of Tetralogy of Fallot Patients During 23 Years of Follow-Up. ( 31062060 )
2019
47
Type II aortopulmonary window with tetralogy of Fallot: successful repair. ( 29986599 )
2019
48
Ventricular Dysfunction in a 40-Year-Old With Coronary Compression From Aortic Aneurysm Following Waterston Shunt and Complete Repair of Tetralogy of Fallot. ( 31049477 )
2019
49
Surgical Management of Tetralogy of Fallot with Unilateral Absence of the Pulmonary Artery. ( 31049646 )
2019
50
Isolation of left subclavian artery in Tetralogy of Fallot with right aortic arch: A rare association diagnosed on dual source CT. ( 30709719 )
2019

Variations for Tetralogy of Fallot

UniProtKB/Swiss-Prot genetic disease variations for Tetralogy of Fallot:

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala9Pro VAR_071514 rs864321699
2 GATA4 p.Leu51Val VAR_071515
3 GATA4 p.Asn285Ser VAR_071516
4 GATA6 p.Ser184Asn VAR_067382 rs387906816
5 GDF1 p.Gly162Asp VAR_065333 rs121434424
6 GDF1 p.Ser309Pro VAR_065336 rs864622513
7 GDF1 p.Pro312Thr VAR_065337
8 JAG1 p.Gly274Asp VAR_013200 rs28939668
9 JAG1 p.Pro810Leu VAR_080876 rs769531968
10 NKX2-5 p.Glu21Gln VAR_038215 rs104893904
11 NKX2-5 p.Gln22Pro VAR_038216 rs201442000
12 NKX2-5 p.Arg216Cys VAR_038239 rs104893905
13 NKX2-5 p.Ala219Val VAR_038240 rs104893902
14 NKX2-5 p.Ala323Thr VAR_038253
15 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
16 ZFPM2 p.Ser657Gly VAR_017943 rs28374544
17 ZFPM2 p.Met544Ile VAR_072075 rs187043152

ClinVar genetic disease variations for Tetralogy of Fallot:

6 (show top 50) (show all 93)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1 NC_012920.1: m.6887_6888insGGG insertion Likely pathogenic GRCh38 Chromosome MT, 6887: 6888
2 CRELD1 NM_001031717.3(CRELD1): c.1136T> G (p.Met379Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 9985673: 9985673
3 CRELD1 NM_001031717.3(CRELD1): c.1136T> G (p.Met379Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 9943989: 9943989
4 TBX1 NM_080647.1(TBX1): c.324C> T (p.Ala108=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19761194: 19761194
5 TBX1 NM_080647.1(TBX1): c.324C> T (p.Ala108=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19748717: 19748717
6 subset of 39 genes:CSMD1 GRCh37/hg19 8p23.3-23.1(chr8: 194617-7787444) copy number loss Pathogenic GRCh37 Chromosome 8, 194617: 7787444
7 subset of 22 genes:GATA4 GRCh37/hg19 8p23.1(chr8: 8403375-11805960) copy number loss Pathogenic GRCh37 Chromosome 8, 8403375: 11805960
8 MT-CO3 NC_012920.1: m.9441_9442insTTT insertion Pathogenic GRCh38 Chromosome MT, 9441: 9442
9 MT-CO3 NC_012920.1: m.9441_9442insTTT insertion Pathogenic GRCh37 Chromosome MT, 9441: 9442
10 TBX1 NM_080647.1(TBX1): c.1374C> G (p.Pro458=) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 19766753: 19766753
11 TBX1 NM_080647.1(TBX1): c.1374C> G (p.Pro458=) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 19754276: 19754276
12 MT-CO1 NC_012920.1: m.6887_6888insGGG insertion Likely pathogenic GRCh37 Chromosome MT, 6887: 6888
13 MT-CO1 NC_012920.1: m.5954del deletion Pathogenic GRCh38 Chromosome MT, 5954: 5954
14 MT-CO1 NC_012920.1: m.5954del deletion Pathogenic GRCh37 Chromosome MT, 5954: 5954
15 MT-CO1 NC_012920.1: m.6927del deletion Pathogenic GRCh38 Chromosome MT, 6927: 6927
16 MT-CO1 NC_012920.1: m.6927del deletion Pathogenic GRCh37 Chromosome MT, 6927: 6927
17 MT-CO1 NC_012920.1: m.6901del deletion Pathogenic GRCh38 Chromosome MT, 6901: 6901
18 MT-CO1 NC_012920.1: m.6901del deletion Pathogenic GRCh37 Chromosome MT, 6901: 6901
19 MT-CO2 NC_012920.1: m.7638del deletion Pathogenic GRCh38 Chromosome MT, 7638: 7638
20 MT-CO2 NC_012920.1: m.7638del deletion Pathogenic GRCh37 Chromosome MT, 7638: 7638
21 MT-CO1 NC_012920.1: m.6940del deletion Pathogenic GRCh38 Chromosome MT, 6940: 6940
22 MT-CO1 NC_012920.1: m.6940del deletion Pathogenic GRCh37 Chromosome MT, 6940: 6940
23 ZFPM2 NM_012082.3(ZFPM2): c.1318A> G (p.Lys440Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 105801400: 105801400
24 ZFPM2 NM_012082.3(ZFPM2): c.1318A> G (p.Lys440Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 106813628: 106813628
25 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic rs1554034812 GRCh37 Chromosome 5, 37059041: 37059041
26 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic rs1554034812 GRCh38 Chromosome 5, 37058939: 37058939
27 IRX4 NM_001278633.1(IRX4): c.1250C> T (p.Pro417Leu) single nucleotide variant Uncertain significance rs1175075312 GRCh37 Chromosome 5, 1878471: 1878471
28 IRX4 NM_001278633.1(IRX4): c.1250C> T (p.Pro417Leu) single nucleotide variant Uncertain significance rs1175075312 GRCh38 Chromosome 5, 1878357: 1878357
29 JAG1 NM_000214.3(JAG1): c.2429C> T (p.Pro810Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs769531968 GRCh37 Chromosome 20, 10624455: 10624455
30 JAG1 NM_000214.3(JAG1): c.2429C> T (p.Pro810Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs769531968 GRCh38 Chromosome 20, 10643807: 10643807
31 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh37 Chromosome 22, 19753951: 19753951
32 TBX1 NM_080647.1(TBX1): c.1049G> A (p.Gly350Asp) single nucleotide variant Uncertain significance rs781731042 GRCh38 Chromosome 22, 19766428: 19766428
33 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1445910672 GRCh38 Chromosome 22, 19761255: 19761255
34 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs1445910672 GRCh37 Chromosome 22, 19748778: 19748778
35 JAG1 NM_000214.3(JAG1): c.3467T> C (p.Val1156Ala) single nucleotide variant Uncertain significance rs143966918 GRCh37 Chromosome 20, 10620336: 10620336
36 JAG1 NM_000214.3(JAG1): c.3467T> C (p.Val1156Ala) single nucleotide variant Uncertain significance rs143966918 GRCh38 Chromosome 20, 10639688: 10639688
37 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh38 Chromosome 15, 63042945: 63042945
38 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh37 Chromosome 15, 63335144: 63335144
39 46;XX;t(7;12)(q11.2;q12).ish Translocation Uncertain significance
40 JAG1 NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh38 Chromosome 20, 10641799: 10641799
41 JAG1 NM_000214.3(JAG1): c.2666G> A (p.Arg889Gln) single nucleotide variant Uncertain significance rs149419694 GRCh37 Chromosome 20, 10622447: 10622447
42 NOTCH1 NM_017617.5(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh38 Chromosome 9, 136523014: 136523014
43 NOTCH1 NM_017617.5(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh37 Chromosome 9, 139417466: 139417466
44 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh38 Chromosome 7, 100819874: 100819874
45 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh37 Chromosome 7, 100417496: 100417496
46 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh38 Chromosome 8, 11750149: 11750149
47 GATA4 NM_002052.4(GATA4): c.822C> T (p.Cys274=) single nucleotide variant Conflicting interpretations of pathogenicity rs55980825 GRCh37 Chromosome 8, 11607658: 11607658
48 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh38 Chromosome 1, 236754037: 236754037
49 ACTN2 NM_001103.3(ACTN2): c.1930G> A (p.Ala644Thr) single nucleotide variant Uncertain significance rs146164600 GRCh37 Chromosome 1, 236917337: 236917337
50 ZFPM2 NM_012082.3(ZFPM2): c.1632G> A (p.Met544Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs187043152 GRCh37 Chromosome 8, 106813942: 106813942

Copy number variations for Tetralogy of Fallot from CNVD:

7 (show top 50) (show all 82)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 66885 12 33432314 34007723 Deletion Tetralogy of Fallot
2 123435 18 72614319 76116030 Deletion PARD6G Tetralogy of Fallot
3 123436 18 72614319 76116030 Deletion cNFATC1 Tetralogy of Fallot
4 136532 2 131194418 132021416 Deletion ARHGEF4 Tetralogy of Fallot
5 199842 5 44314920 44450566 Deletion Tetralogy of Fallot
6 208767 6 1938284 1951033 Deletion GMDS Tetralogy of Fallot
7 214519 6 61987979 62979534 Deletion Tetralogy of Fallot
8 240186 8 47203026 48101825 Deletion Tetralogy of Fallot
9 242697 8 73871523 73950003 Deletion KCNB2 Tetralogy of Fallot
10 241567 8 6342621 6402283 Deletion ANGPT2 Tetralogy of Fallot
11 239146 8 3778626 5938257 Deletion Tetralogy of Fallot
12 236722 8 1716624 1873450 Deletion ARHGEF10 Tetralogy of Fallot
13 223600 7 2310838 2490906 Deletion SNX8 Tetralogy of Fallot
14 223503 7 21570799 21750666 Deletion DNAH11 Tetralogy of Fallot
15 215814 6 81166965 81927806 Deletion Tetralogy of Fallot
16 208936 6 21587649 23686549 Deletion SOX4 Tetralogy of Fallot
17 202382 5 80665064 86119882 Deletion cVCAN Tetralogy of Fallot
18 202381 5 80665064 86119882 Deletion EDIL3 Tetralogy of Fallot
19 193723 5 132946021 132961028 Deletion FSTL4 Tetralogy of Fallot
20 193445 5 130124159 130935317 Deletion Tetralogy of Fallot
21 192261 5 109622167 110233833 Deletion SLC25A46 Tetralogy of Fallot
22 190523 4 89393217 89448854 Deletion PPM1K Tetralogy of Fallot
23 186101 4 28835868 34833117 Deletion Tetralogy of Fallot
24 185354 4 188923641 189437847 Deletion Tetralogy of Fallot
25 177642 3 60002 1055034 Deletion CHL1 Tetralogy of Fallot
26 168047 3 12665657 12682841 Deletion Tetralogy of Fallot
27 161496 22 19062809 19791607 Deletion Tetralogy of Fallot
28 161051 22 17190110 19364810 Deletion TBX1 Tetralogy of Fallot
29 161050 22 17190110 19364810 Deletion HIRA Tetralogy of Fallot
30 161049 22 17190110 19364810 Deletion CRKL Tetralogy of Fallot
31 160843 22 16300000 24300000 Microdeletion Tetralogy of fallot
32 160798 22 16300000 24300000 Deletion Tetralogy of Fallot
33 160563 22 15996510 16081372 Deletion CECR5 Tetralogy of Fallot
34 160268 22 11800000 24300000 Microdeletion Tetralogy of fallot
35 158107 21 29607482 30244785 Deletion Tetralogy of Fallot
36 157649 21 20282405 20842782 Deletion Tetralogy of Fallot
37 150279 2 97982662 98531050 Deletion Tetralogy of Fallot
38 144801 2 29418234 30987444 Deletion LBH Tetralogy of Fallot
39 141695 2 215266200 215351867 Deletion BARD1 Tetralogy of Fallot
40 139813 2 188273007 188973872 Deletion Tetralogy of Fallot
41 138147 2 158961179 159012386 Deletion CCDC148 Tetralogy of Fallot
42 137930 2 154772039 156750900 Deletion Tetralogy of Fallot
43 132130 19 57807872 58437550 Deletion ZNF347 Tetralogy of Fallot
44 128034 19 38902591 38929184 Deletion CHST8 Tetralogy of Fallot
45 127108 19 2500048 3208416 Deletion S1PR4 Tetralogy of Fallot
46 127107 19 2500048 3208416 Deletion GNA11 Tetralogy of Fallot
47 126358 19 183496 989223 Deletion PTBP1 Tetralogy of Fallot
48 126357 19 183496 989223 Deletion FSTL3 Tetralogy of Fallot
49 126356 19 183496 989223 Deletion CNN2 Tetralogy of Fallot
50 123196 18 69207652 72613723 Deletion CNDP2 Tetralogy of Fallot

Expression for Tetralogy of Fallot

Search GEO for disease gene expression data for Tetralogy of Fallot.

Pathways for Tetralogy of Fallot

Pathways related to Tetralogy of Fallot according to KEGG:

38
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Tetralogy of Fallot

Cellular components related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.46 CITED2 GATA5 HIRA NIPBL
2 respiratory chain complex IV GO:0045277 8.8 MT-CO1 MT-CO2 MT-CO3
3 mitochondrial respiratory chain complex IV GO:0005751 8.65 MT-CO1

Biological processes related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 CITED2 GATA4 GATA5 GATA6 JAG1 NIPBL
2 proton transmembrane transport GO:1902600 9.92 MT-CO1 MT-CO2 MT-CO3
3 male gonad development GO:0008584 9.92 CITED2 GATA4 GATA6
4 liver development GO:0001889 9.9 CITED2 GATA6 NOTCH1
5 determination of left/right symmetry GO:0007368 9.89 CITED2 NOTCH1 TBX1
6 negative regulation of cell differentiation GO:0045596 9.88 JAG1 NOTCH1 TBX1
7 vasculogenesis GO:0001570 9.88 CITED2 NKX2-5 ZFPM2
8 blood vessel development GO:0001568 9.87 CITED2 GJA5 TBX1
9 heart morphogenesis GO:0003007 9.86 NIPBL NKX2-5 TBX1
10 heart looping GO:0001947 9.85 CITED2 GATA4 NKX2-5 NOTCH1 TBX20
11 ventricular septum development GO:0003281 9.83 CITED2 GATA4 GJA5
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.81 GATA6 NOTCH1 TBX20 ZFPM2
13 cardiac muscle cell differentiation GO:0055007 9.8 GATA4 GATA6 NKX2-5
14 ventricular septum morphogenesis GO:0060412 9.8 CITED2 GJA5 NKX2-5 NOTCH1 ZFPM2
15 cardiac muscle tissue morphogenesis GO:0055008 9.79 NKX2-5 NOTCH1 TBX20
16 cardiac muscle tissue development GO:0048738 9.79 GATA6 NKX2-5 ZFPM2
17 pharyngeal system development GO:0060037 9.78 NKX2-5 NKX2-6 TBX1
18 embryonic heart tube development GO:0035050 9.78 GJA5 NKX2-5 NKX2-6 TBX20
19 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.77 MT-CO1 MT-CO2 MT-CO3
20 cardiac right ventricle morphogenesis GO:0003215 9.77 GATA4 JAG1 TBX20
21 outflow tract septum morphogenesis GO:0003148 9.77 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
22 regulation of cardiac muscle contraction GO:0055117 9.75 GJA5 NKX2-5
23 cell fate specification GO:0001708 9.75 NOTCH1 TBX1
24 negative regulation of cardiac muscle hypertrophy GO:0010614 9.75 GATA5 NOTCH1
25 endocardial cushion morphogenesis GO:0003203 9.75 NOTCH1 TBX20
26 cardiac septum morphogenesis GO:0060411 9.75 CITED2 JAG1 NOTCH1
27 negative regulation of myotube differentiation GO:0010832 9.74 NKX2-5 NOTCH1
28 ventricular trabecula myocardium morphogenesis GO:0003222 9.74 NKX2-5 NOTCH1
29 aorta morphogenesis GO:0035909 9.74 JAG1 TBX1
30 cardiac muscle cell proliferation GO:0060038 9.74 NKX2-5 NOTCH1
31 endocardial cushion development GO:0003197 9.74 CITED2 GATA4 NOTCH1
32 negative regulation of stem cell differentiation GO:2000737 9.73 JAG1 NOTCH1
33 pulmonary valve morphogenesis GO:0003184 9.73 JAG1 NOTCH1
34 left/right axis specification GO:0070986 9.73 CITED2 NOTCH1
35 response to muramyl dipeptide GO:0032495 9.73 JAG1 NOTCH1
36 embryonic viscerocranium morphogenesis GO:0048703 9.73 NIPBL TBX1
37 atrial septum morphogenesis GO:0060413 9.73 GATA4 GJA5 NKX2-5 TBX20
38 ventricular cardiac muscle cell development GO:0055015 9.72 NKX2-5 NKX2-6
39 coronary artery morphogenesis GO:0060982 9.72 NOTCH1 TBX1
40 Notch signaling involved in heart development GO:0061314 9.71 JAG1 NOTCH1
41 pericardium morphogenesis GO:0003344 9.71 NOTCH1 TBX20
42 positive regulation of male gonad development GO:2000020 9.71 CITED2 ZFPM2
43 cardiac ventricle morphogenesis GO:0003208 9.71 GATA4 NKX2-5 NOTCH1
44 ear morphogenesis GO:0042471 9.7 NIPBL TBX1
45 intestinal epithelial cell differentiation GO:0060575 9.7 GATA4 GATA5 GATA6
46 pulmonary artery morphogenesis GO:0061156 9.69 CITED2 JAG1
47 cardiac conduction system development GO:0003161 9.68 GJA5 NKX2-5
48 transcription by RNA polymerase II GO:0006366 9.68 GATA4 GATA6
49 embryonic heart tube left/right pattern formation GO:0060971 9.68 CITED2 NKX2-5
50 atrial cardiac muscle cell development GO:0055014 9.68 NKX2-5 NKX2-6

Molecular functions related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.85 CITED2 GATA6 NIPBL NKX2-5 NOTCH1
2 transcription regulatory region DNA binding GO:0044212 9.8 GATA4 GATA5 GATA6 NKX2-5
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.73 GATA4 GATA5 GATA6 NKX2-5 NOTCH1 TBX20
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.71 GATA4 NKX2-5 NKX2-6 NOTCH1
5 transcription coactivator activity GO:0003713 9.69 CITED2 GATA4 ZFPM2
6 RNA polymerase II transcription factor binding GO:0001085 9.54 GATA4 TBX20 ZFPM2
7 cytochrome-c oxidase activity GO:0004129 9.5 MT-CO1 MT-CO2 MT-CO3
8 sequence-specific DNA binding GO:0043565 9.5 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 NOTCH1
9 DNA-binding transcription factor activity GO:0003700 9.32 CITED2 GATA4 GATA5 GATA6 HIRA NKX2-5
10 enhancer sequence-specific DNA binding GO:0001158 9.16 GATA4 GATA5
11 DNA binding GO:0003677 10.13 GATA4 GATA5 GATA6 HIRA NKX2-5 NKX2-6
12 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.03 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 TBX1

Sources for Tetralogy of Fallot

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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