MCID: TTR001
MIFTS: 70

Tetralogy of Fallot

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 53 12 49 55 71 36 28 13 41 14 59
Tof 53 49 71
Fallot Tetralogy 72 49
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 12

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant


HPO:

31
tetralogy of fallot:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 187500
Disease Ontology 12 DOID:6419
ICD10 32 Q21.3
ICD9CM 34 745.2
MeSH 41 D013771
NCIt 46 C84505
Orphanet 55 ORPHA3303
MESH via Orphanet 42 D013771
UMLS via Orphanet 70 C0039685
ICD10 via Orphanet 33 Q21.3
MedGen 39 C0039685
KEGG 36 H00549
UMLS 69 C0039685

Summaries for Tetralogy of Fallot

NIH Rare Diseases : 49 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.  Last updated: 3/15/2012

MalaCards based summary : Tetralogy of Fallot, also known as tof, is related to digeorge syndrome and conotruncal heart malformations, and has symptoms including dolichocephaly, abnormal nasal morphology and cryptorchidism. 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 Spironolactone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

UniProtKB/Swiss-Prot : 71 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 : 59
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 : 72 Tetralogy of Fallot (TOF) is a congenital heart defect that is present at birth. Symptoms include... 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 241)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 32.9 HIRA TBX1 UFD1
2 conotruncal heart malformations 31.3 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
3 atrioventricular septal defect 31.1 GATA4 GATA6 GDF1 GJA1 NKX2-5 NKX2-6
4 diaphragmatic hernia, congenital 30.9 GATA4 GATA6 ZFPM2
5 holt-oram syndrome 30.8 NKX2-5 TBX1 TBX5
6 atrial heart septal defect 30.7 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
7 atrioventricular block 30.7 GATA4 NKX2-5 NPPB TBX5
8 pulmonary valve stenosis 30.5 GATA4 JAG1 NKX2-6 TBX5
9 transposition of the great arteries 30.4 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 NPPB
10 atrial fibrillation 30.4 GATA5 GATA6 GJA1 GJA5 NPPB TBX5
11 patent ductus arteriosus 1 30.4 GATA6 GDF1 NKX2-6 NPPB
12 dilated cardiomyopathy 30.3 GATA4 GATA5 GJA1 GJA5 NKX2-5 NPPB
13 pulmonary valve insufficiency 30.2 NKX2-6 NPPB
14 tricuspid atresia 30.2 GDF1 HEY2 NKX2-5 NKX2-6 ZFPM2
15 ebstein anomaly 30.1 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
16 ventricular septal defect 29.7 CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
17 heart disease 29.2 CITED2 GATA4 GATA5 GDF1 GJA1 GJA5
18 tetralogy of fallot and glaucoma 12.3
19 hypertelorism and tetralogy of fallot 12.2
20 tetralogy of fallot syndrome, autosomal recessive 12.2
21 duodenal atresia tetralogy of fallot 12.2
22 complete atrioventricular canal-tetralogy of fallot syndrome 12.2
23 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome 12.2
24 pulmonary atresia with ventricular septal defect 11.4
25 ritscher-schinzel syndrome 1 11.2
26 adams-oliver syndrome 1 11.1
27 heart defects, congenital, and other congenital anomalies 11.1
28 fallot complex with severe mental and growth retardation 11.1
29 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
30 ventricular septal defect 1 11.1
31 ventricular septal defect 3 11.1
32 adams-oliver syndrome 5 11.1
33 adams-oliver syndrome 6 11.1
34 structural heart defects and renal anomalies syndrome 11.1
35 ritscher-schinzel syndrome 11.1
36 chaotic atrial tachycardia 11.1
37 maternal hyperphenylalaninemia 11.1
38 phenobarbital antenatal exposure 11.1
39 partial atrioventricular canal 10.7 GATA4 GATA6
40 complete atrioventricular canal-ventricle hypoplasia syndrome 10.7 GATA4 GATA6
41 familial bicuspid aortic valve 10.7 GATA5 NKX2-5 NOTCH1
42 wolff-parkinson-white syndrome 10.7 JAG1 NKX2-5 NPPB
43 46,xy partial gonadal dysgenesis 10.6 GATA4 ZFPM2
44 hypoplastic left heart syndrome 10.6 GATA5 GJA1 NKX2-5 NOTCH1 NPPB
45 complete atrioventricular canal 10.4
46 nodular regenerative hyperplasia 10.4 JAG1 NOTCH1
47 aging 10.4
48 progressive familial heart block, type ia 10.4
49 progressive familial heart block, type ib 10.4
50 right bundle branch block 10.4

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



Diseases related to Tetralogy of Fallot

Symptoms & Phenotypes for Tetralogy of Fallot

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Tetralogy of Fallot:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000268
2 abnormal nasal morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005105
3 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
4 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
5 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
6 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
7 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
8 tetralogy of fallot 55 31 frequent (33%) Frequent (79-30%) HP:0001636
9 proptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000520
10 thin vermilion border 55 31 frequent (33%) Frequent (79-30%) HP:0000233
11 preauricular pit 55 31 frequent (33%) Frequent (79-30%) HP:0004467
12 underdeveloped supraorbital ridges 55 31 frequent (33%) Frequent (79-30%) HP:0009891

GenomeRNAi Phenotypes related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

25 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.87 GATA6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.87 TBX5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.87 CITED2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.87 HEY2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.87 GATA6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.87 TBX5
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.87 NOTCH1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.87 NOTCH1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.87 NOTCH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.87 GATA6 HEY2 NOTCH1 CITED2 TBX5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.87 GATA6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.87 TBX5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.87 NOTCH1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.87 NOTCH1 TBX5
15 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.87 HEY2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.87 GATA6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.87 CITED2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.87 GATA6 CITED2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.87 GATA6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.87 NOTCH1 CITED2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.87 GATA6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.87 TBX5
23 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.87 TBX5
24 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.87 HEY2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.87 NOTCH1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.87 GATA6
27 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.87 HEY2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.87 GATA6

MGI Mouse Phenotypes related to Tetralogy of Fallot:

43 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.51 GATA6 GATA4 GDF1 CITED2 GATA5 NOTCH1
2 homeostasis/metabolism MP:0005376 10.4 GATA6 GATA4 CITED2 GATA5 ZFPM2 TBX1
3 cellular MP:0005384 10.39 GATA5 GATA6 GATA4 NKX2-6 TBX1 NOTCH1
4 embryo MP:0005380 10.39 GATA6 GATA4 GDF1 CITED2 TBX1 NOTCH1
5 growth/size/body region MP:0005378 10.37 CITED2 GATA6 GATA4 NKX2-6 TBX1 NOTCH1
6 mortality/aging MP:0010768 10.33 GATA6 GATA4 CITED2 GATA5 ZFPM2 TBX1
7 endocrine/exocrine gland MP:0005379 10.31 GATA5 GATA4 CITED2 ZFPM2 TBX1 NOTCH1
8 craniofacial MP:0005382 10.27 CITED2 TBX1 NOTCH1 HEY2 GJA1 HIRA
9 digestive/alimentary MP:0005381 10.26 CITED2 GATA5 GATA4 TBX1 NOTCH1 GDF1
10 hematopoietic system MP:0005397 10.25 CITED2 GATA6 GATA4 TBX1 NOTCH1 GDF1
11 muscle MP:0005369 10.21 GATA6 GATA4 GATA5 NOTCH1 TBX5 ZFPM2
12 integument MP:0010771 10.13 GATA5 GATA4 TBX1 NOTCH1 GJA1 ZFPM2
13 nervous system MP:0003631 10.06 CITED2 GATA4 TBX1 NOTCH1 GDF1 HEY2
14 normal MP:0002873 10.03 GATA6 GATA4 GDF1 CITED2 TBX1 NOTCH1
15 limbs/digits/tail MP:0005371 10 CITED2 GATA6 GATA4 TBX1 TBX5 GJA1
16 liver/biliary system MP:0005370 9.98 GATA6 GATA4 NOTCH1 GDF1 HEY2 ZFPM2
17 no phenotypic analysis MP:0003012 9.86 GATA4 GJA5 GJA1 ZFPM2 ISL1 NKX2-5
18 respiratory system MP:0005388 9.73 GATA6 GATA4 CITED2 ZFPM2 TBX1 NKX2-6
19 skeleton MP:0005390 9.36 GATA5 CITED2 GATA4 TBX1 NOTCH1 TBX5

Drugs & Therapeutics for Tetralogy of Fallot

PubMedHealth treatment related to Tetralogy of Fallot: 59

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 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 443872 150310
2
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
3 diuretics Phase 4,Phase 2,Phase 3
4 Natriuretic Agents Phase 4,Phase 2,Phase 3
5 Hormones Phase 4
6 Diuretics, Potassium Sparing Phase 4
7 Hormone Antagonists Phase 4
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10 Mineralocorticoids Phase 4
11
Dobutamine Approved Phase 3 34368-04-2 36811
12 Natriuretic Peptide, Brain Phase 2, Phase 3
13 Adrenergic Agents Phase 3,Phase 1
14 Adrenergic Agonists Phase 3,Phase 1
15 Adrenergic beta-Agonists Phase 3
16 Autonomic Agents Phase 3
17 Neurotransmitter Agents Phase 3,Phase 1
18 Peripheral Nervous System Agents Phase 3,Phase 1
19 Protective Agents Phase 3
20
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
21
Losartan Approved Phase 2 114798-26-4 3961
22 Angiotensin II Type 1 Receptor Blockers Phase 2
23 Angiotensin Receptor Antagonists Phase 2
24 Angiotensinogen Phase 2
25 Anti-Arrhythmia Agents Phase 2
26 Antihypertensive Agents Phase 2
27
Dexmedetomidine Approved, Vet_approved Phase 1 76631-46-4, 113775-47-6 5311068 56032 68602
28 Adrenergic alpha-2 Receptor Agonists Phase 1
29 Adrenergic alpha-Agonists Phase 1
30 Analgesics Phase 1
31 Analgesics, Non-Narcotic Phase 1
32 Central Nervous System Depressants Phase 1
33 Hypnotics and Sedatives Phase 1
34
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
35
Menthol Approved 2216-51-5 16666
36
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
37
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
38 Anesthetics
39 Adjuvants, Anesthesia
40 Analgesics, Opioid
41 Anesthetics, General
42 Anesthetics, Intravenous
43 Narcotics
44 Anticoagulants
45 Bone Density Conservation Agents
46 Calcium, Dietary
47 Chelating Agents
48 Tin Fluorides
49 Retinol palmitate
50 Citrate Nutraceutical

Interventional clinical trials:

(show top 50) (show all 53)

# 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 Understanding Dexmedetomidine In Infants Post-Operative From Cardiac Surgery Completed NCT00573066 Phase 1 Dexmedetomidine
8 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
9 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
10 Biomodel in Tetralogy of Fallot Unknown status NCT00155428
11 Pulmonary Artery Repair With Covered Stents Unknown status NCT01824160
12 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829
13 Exercise Training in Adults With Corrected Tetralogy of Fallot Completed NCT02643810
14 Follow up of Post-repair Tetralogy of Fallot Completed NCT00266188
15 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
16 Tetralogy of Fallot Seed Grant Completed NCT00722826
17 Comparison of Two Pulmonary Valve Replacement Methods to Treat Tetralogy of Fallot Completed NCT00112320
18 Right Ventricular Contractility Reserve Following Repair of Tetralogy of Fallot Completed NCT00557934
19 Assessment of Right Ventricular Volume in Tetralogy of Fallott (TOF) Patients Completed NCT01419756
20 Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation Completed NCT02586740
21 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
22 Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRI Completed NCT00489788
23 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
24 Myocardial Contrast Echocardiography in Congenital Heart Disease Completed NCT00412685
25 MRI Assessment of RV Function: Patients With TOF or Aortic Coarctation Completed NCT00277901
26 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
27 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
28 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
29 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
30 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230
31 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
32 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
33 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Recruiting NCT02186691
34 Tetralogy of Fallot for Life Recruiting NCT02968264
35 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Recruiting NCT02967315
36 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
37 Calcium Current in Human Heart Cells Recruiting NCT00243776
38 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963
39 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
40 The Medtronic Harmony™ Transcatheter Pulmonary Valve Clinical Study Recruiting NCT02979587
41 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
42 Integrated Computational modelIng of Right Heart Mechanics and Blood Flow Dynamics in Congenital Heart Disease Recruiting NCT03217240
43 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
44 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387
45 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677
46 Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT01762124
47 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
48 Comparison of RVOT Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing TOF Repair Enrolling by invitation NCT03234582
49 4D Velocity Mapping of the Heart in rTOF Patients Not yet recruiting NCT02980614
50 Physical Capacity and Activity in Children With Congenital Heart Disease Not yet recruiting NCT03275844

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 28 GATA4 GATA6 GDF1 JAG1 NKX2-5 TBX1 ZFPM2

Anatomical Context for Tetralogy of Fallot

MalaCards organs/tissues related to Tetralogy of Fallot:

38
Heart, Skin, Lung, Brain, Bone, Testes, Eye

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 959)
# Title Authors Year
1
Impact of surgery on presence and dimensions of anatomical isthmuses in tetralogy of Fallot. ( 29305559 )
2018
2
Comprehensive Management of Major Aortopulmonary Collaterals in the Repair of Tetralogy of Fallot. ( 29425528 )
2018
3
Pregnacy and Delivery in a Patient After Tetralogy of Fallot Surgery Being Undergone. ( 29416223 )
2018
4
Right ventricular contractile reserve in tetralogy of Fallot patients with pulmonary regurgitation. ( 29314646 )
2018
5
Influence of staged repair and primary repair on outcomes in patients with complete atrioventricular septal defect and tetralogy of Fallot: a systematic review and meta-analysis. ( 29049707 )
2018
6
Perioperative Electrophysiology Study in Tetralogy of Fallot Patients Undergoing Pulmonary Valve Replacement Will Identify Those at High Risk for Subsequent Ventricular Tachycardia. ( 29330130 )
2018
7
Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study. ( 29444724 )
2018
8
Long-term results of pulmonary valve annular enlargement with valve repair in tetralogy of Fallot. ( 29365090 )
2018
9
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. ( 29363855 )
2018
10
Clinical Predictors of Right Ventricular Myocardial Fibrosis in Patients With Repaired Tetralogy of Fallot. ( 29353862 )
2018
11
3D Printing Provides a Precise Approach in the Treatment of Tetralogy of Fallot, Pulmonary Atresia with Major Aortopulmonary Collateral Arteries. ( 29397465 )
2018
12
Surgical strategies protecting against right ventricular dilatation following tetralogy of Fallot repair. ( 29357937 )
2018
13
Functional polymorphisms of the neuropilin 1 gene are associated with the risk of tetralogy of Fallot in a Chinese Han population. ( 29432830 )
2018
14
Exercise training in adults with repaired tetralogy of Fallot: A randomized controlled pilot study of continuous versus interval training. ( 29338917 )
2018
15
A pilot study of a cardiovascular virtual endoscopy system based on multi-detector computed tomography in diagnosing tetralogy of Fallot in pediatric patients. ( 29434740 )
2018
16
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. ( 29230941 )
2018
17
Tetralogy of Fallot with left ventricular clot. ( 29333749 )
2018
18
The Role of Ablation Therapy for Ventricular Tachycardia in Patients with Tetralogy of Fallot. ( 29408326 )
2018
19
Bilateral branch pulmonary artery valve implantation in repaired tetralogy of fallot. ( 29357196 )
2018
20
Ventricular Fibrillation and Myocardial Depression Following Pulmonary Valve Replacement in Tetralogy of Fallot With an Intramural Coronary Artery and Coronary Artery Compression by Chest Tube. ( 28933244 )
2017
21
Role of Acquired Cardiovascular Disease inA Tetralogy of Fallot Patients >50 Years of Age. ( 28494985 )
2017
22
Stenting of right ventricular outflow tract in Tetralogy of Fallot with subarterial ventricular septal defect: A word of caution. ( 28928615 )
2017
23
Stenting of the Right Ventricular Outflow Tract Promotes Better Pulmonary Arterial Growth Compared With Modified Blalock-Taussig Shunt Palliation in Tetralogy of Fallot-Type Lesions. ( 28882285 )
2017
24
Minimally Invasive Esophagectomy in a Patient With Tetralogy of Fallot and Right-Sided Aortic Arch. ( 28007281 )
2017
25
Postoperative interventricular septal haematoma following tetralogy of Fallot repair and perimembranous ventricular septal defect repair. ( 28364481 )
2017
26
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. ( 28497001 )
2017
27
Right bundle branch block pattern after uncomplicated right ventricular outflow tract pacing in a patient with a left sided superior vena cava and corrected tetralogy of Fallot. ( 29183713 )
2017
28
Cardiac resynchronization therapy via transvenous approach in a 2-year-old boy with a complete atrioventricular block after a tetralogy of Fallot repair. ( 29255519 )
2017
29
How to Image Repaired Tetralogy of Fallot. ( 28495821 )
2017
30
Spectrum of pulmonary valve morphology and its relationship to pulmonary trunk in tetralogy of Fallot. ( 28515589 )
2017
31
Predictors of ventricular tachyarrhythmia occurring late after intracardiac repair of tetralogy of Fallot: combination of QRS duration change rate and tricuspid regurgitation pressure gradient. ( 29312717 )
2017
32
Clinical implications of hypothermic ventricular fibrillation versus beating-heart technique during cardiopulmonary bypass for pulmonary valve replacement in patients with repaired tetralogy of Fallot. ( 28535202 )
2017
33
Main pulmonary artery cross-section ratio is low in fetuses with tetralogy of Fallot and ductus arteriosus-dependent pulmonary circulation. ( 28077176 )
2017
34
Valve-Sparing or Valve Reconstruction Options in Tetralogy of Fallot Surgery. ( 28007071 )
2017
35
Cardiac Magnetic Resonance Feature Tracking Biventricular Two-Dimensional and Three-Dimensional Strains to Evaluate Ventricular Function in Children After Repaired Tetralogy of Fallot as Compared with Healthy Children. ( 28058478 )
2017
36
Basic arterial blood gas biomarkers as a predictor of mortality in tetralogy of Fallot patients. ( 28074799 )
2017
37
Is the presence of end-diastolic forward flow specific for restrictive right ventricular physiology in repaired tetralogy of Fallot? ( 28457561 )
2017
38
Development of quality metrics for ambulatory care in pediatric patients with tetralogy of Fallot. ( 28880457 )
2017
39
Feasibility of a healthcare system-based tetralogy of Fallot patient registry. ( 28847322 )
2017
40
The Role of Conventional and Right-Sided ECG Screening for Subcutaneous ICD in a Tetralogy of Fallot Population. ( 28070890 )
2017
41
Catheter palliation or early surgery for tetralogy of Fallot: Options when timing is less than ideal. ( 28890082 )
2017
42
Cardiac Function After Tetralogy of Fallot/Complete Atrioventricular Canal Repair. ( 28329461 )
2017
43
Impact of Structural Cerebral Damage in Adults With Tetralogy of Fallot. ( 28483835 )
2017
44
Left Ventricular Stiffness in Adolescents and Young Adults with Repaired Tetralogy of Fallot. ( 28455532 )
2017
45
Total Correction of Tetralogy of Fallot at Early Age: A Study of 183 Cases. ( 28511925 )
2017
46
Right vEntricular Dysfunction in tEtralogy of Fallot: INhibition of the rEnin-angiotensin-aldosterone system (REDEFINE) trial: Rationale and design of a randomized, double-blind, placebo-controlled clinical trial. ( 28454836 )
2017
47
Pulmonary Valve Procedures Late After Repair of Tetralogy of Fallot: Current Perspectives and Contemporary Approaches to Management. ( 28843325 )
2017
48
Bronchoscopy in children with tetralogy of fallot, pulmonary atresia, and major aortopulmonary collaterals. ( 28504356 )
2017
49
Right ventricular outflow tract stent versus BT shunt palliation in Tetralogy of Fallot. ( 28814489 )
2017
50
Different predictivity of fluid responsiveness by pulse pressure variation in children after surgical repair of ventricular septal defect or tetralogy of Fallot. ( 28857356 )
2017

Variations for Tetralogy of Fallot

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

71 (show all 16)
# Symbol AA change Variation ID SNP ID
1 GATA4 p.Ala9Pro VAR_071514
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 NKX2-5 p.Glu21Gln VAR_038215 rs104893904
10 NKX2-5 p.Gln22Pro VAR_038216 rs201442000
11 NKX2-5 p.Arg216Cys VAR_038239 rs104893905
12 NKX2-5 p.Ala219Val VAR_038240 rs104893902
13 NKX2-5 p.Ala323Thr VAR_038253
14 ZFPM2 p.Glu30Gly VAR_017942 rs121908601
15 ZFPM2 p.Ser657Gly VAR_017943 rs28374544
16 ZFPM2 p.Met544Ile VAR_072075 rs187043152

ClinVar genetic disease variations for Tetralogy of Fallot:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX2-5 NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs104893905 GRCh37 Chromosome 5, 172659901: 172659901
2 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic/Likely pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
3 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
4 GATA4 GATA4, 3-BP INS, 354GCC insertion Pathogenic
5 GATA6 NM_005257.5(GATA6): c.592C> G (p.Leu198Val) single nucleotide variant Pathogenic rs387906814 GRCh37 Chromosome 18, 19751697: 19751697
6 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh37 Chromosome 18, 19751656: 19751656
7 TBX1 TBX1, 30-BP DUP, NT1399 duplication Pathogenic
8 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Pathogenic/Likely pathogenic rs28939668 GRCh37 Chromosome 20, 10633181: 10633181
9 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh37 Chromosome 7, 100417496: 100417496
10 NOTCH1 NM_017617.4(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh37 Chromosome 9, 139417466: 139417466
11 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh37 Chromosome 15, 63335144: 63335144

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 18024 1 143590972 147572692 Deletion GJA5 Tetralogy of Fallot
2 18240 1 144643825 146273899 Deletion Tetralogy of Fallot
3 18241 1 144643825 146311415 Deletion Tetralogy of Fallot
4 18242 1 144643825 146395961 Deletion Tetralogy of Fallot
5 18456 1 145700719 145711066 Deletion Tetralogy of Fallot
6 27286 1 206337728 206399274 Deletion Tetralogy of Fallot
7 28225 1 220214502 221265766 Deletion DISP1 Tetralogy of Fallot
8 29908 1 237983869 238365506 Deletion CHRM3 Tetralogy of Fallot
9 32270 1 35138921 35758859 Deletion SFPQ Tetralogy of Fallot
10 49152 11 103542068 104794260 Deletion CASP1 Tetralogy of Fallot
11 49153 11 103542068 104794260 Deletion CASP4 Tetralogy of Fallot
12 49154 11 103542068 104794260 Deletion CASP5 Tetralogy of Fallot
13 64229 12 125358126 126151370 Deletion Tetralogy of Fallot
14 66885 12 33432314 34007723 Deletion Tetralogy of Fallot
15 70508 12 62843704 62921993 Deletion C12orf66 Tetralogy of Fallot
16 74277 13 103096790 103922205 Deletion Tetralogy of Fallot
17 76408 13 31086497 35813387 Deletion PDS5B Tetralogy of Fallot
18 76409 13 31086497 35813387 Deletion SPG20 Tetralogy of Fallot
19 76410 13 31086497 35813387 Deletion bNBEA Tetralogy of Fallot
20 76685 13 34960143 34980763 Deletion NBEA Tetralogy of Fallot
21 77291 13 42009354 42564700 Deletion TNFSF11 Tetralogy of Fallot
22 99945 16 29487535 30085309 Deletion HIRIP3 Tetralogy of Fallot
23 99946 16 29487535 30085309 Deletion cMAPK3 Tetralogy of Fallot
24 105835 16 83066869 83082922 Deletion KIAA1609 Tetralogy of Fallot
25 108016 17 18296117 18991652 Deletion FOXO3B Tetralogy of Fallot
26 110245 17 31610407 33552902 Deletion HNF1B Tetralogy of Fallot
27 111711 17 366915 910860 Deletion NXN Tetralogy of Fallot
28 115189 17 5528898 6196702 Deletion Tetralogy of Fallot
29 122847 18 62118826 62372859 Deletion CDH19 Tetralogy of Fallot
30 123196 18 69207652 72613723 Deletion CNDP2 Tetralogy of Fallot
31 123435 18 72614319 76116030 Deletion PARD6G Tetralogy of Fallot
32 123436 18 72614319 76116030 Deletion cNFATC1 Tetralogy of Fallot
33 126356 19 183496 989223 Deletion CNN2 Tetralogy of Fallot
34 126357 19 183496 989223 Deletion FSTL3 Tetralogy of Fallot
35 126358 19 183496 989223 Deletion PTBP1 Tetralogy of Fallot
36 127107 19 2500048 3208416 Deletion GNA11 Tetralogy of Fallot
37 127108 19 2500048 3208416 Deletion S1PR4 Tetralogy of Fallot
38 128034 19 38902591 38929184 Deletion CHST8 Tetralogy of Fallot
39 132130 19 57807872 58437550 Deletion ZNF347 Tetralogy of Fallot
40 136532 2 131194418 132021416 Deletion ARHGEF4 Tetralogy of Fallot
41 137930 2 154772039 156750900 Deletion Tetralogy of Fallot
42 138147 2 158961179 159012386 Deletion CCDC148 Tetralogy of Fallot
43 139813 2 188273007 188973872 Deletion Tetralogy of Fallot
44 141695 2 215266200 215351867 Deletion BARD1 Tetralogy of Fallot
45 144801 2 29418234 30987444 Deletion LBH Tetralogy of Fallot
46 150279 2 97982662 98531050 Deletion Tetralogy of Fallot
47 157649 21 20282405 20842782 Deletion Tetralogy of Fallot
48 158107 21 29607482 30244785 Deletion Tetralogy of Fallot
49 160268 22 11800000 24300000 Microdeletion Tetralogy of fallot
50 160563 22 15996510 16081372 Deletion CECR5 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:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

Pathways related to Tetralogy of Fallot according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 GATA4 GATA6 NOTCH1 TBX1
2
Show member pathways
12.27 GATA4 GATA5 GATA6 NKX2-5
3
Show member pathways
12.22 GATA4 NKX2-5 NPPB TBX5
4 11.93 GATA4 GATA5 GATA6 ZFPM2
5 11.76 GATA4 GJA1 ISL1 NKX2-5 NOTCH1 TBX5
6 11.69 GATA4 GJA1 NKX2-5 TBX5
7 11.68 HEY2 ISL1 NOTCH1
8 11.24 GATA4 GATA6 HEY2 NOTCH1
9 11.08 GATA4 ISL1 NKX2-5 NOTCH1 TBX5
10 10.89 GATA4 NKX2-5 NPPB
11 10.89 GATA4 GATA6 HEY2 ISL1 NKX2-5 NOTCH1
12 10.75 JAG1 NOTCH1
13 10.75 GJA5 JAG1 NOTCH1
14 10.23 GATA4 NKX2-5

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 nucleoplasm GO:0005654 9.4 CITED2 GATA4 GATA5 GATA6 GJA1 HEY2
2 macromolecular complex GO:0032991 8.96 NKX2-5 TBX5
3 nucleus GO:0005634 10 CITED2 GATA4 GATA5 GATA6 HEY2 HIRA

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

(show top 50) (show all 97)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.95 HEY2 JAG1 NOTCH1
2 male gonad development GO:0008584 9.95 CITED2 GATA4 GATA6
3 lung development GO:0030324 9.94 NOTCH1 TBX5 ZFPM2
4 vasculogenesis GO:0001570 9.94 CITED2 HEY2 NKX2-5 ZFPM2
5 liver development GO:0001889 9.93 CITED2 GATA6 NOTCH1
6 blood vessel development GO:0001568 9.93 CITED2 GJA5 HEY2 TBX1
7 heart looping GO:0001947 9.93 CITED2 GATA4 GJA1 NKX2-5 NOTCH1
8 determination of left/right symmetry GO:0007368 9.92 CITED2 NOTCH1 TBX1
9 negative regulation of cell differentiation GO:0045596 9.91 JAG1 NOTCH1 TBX1
10 negative regulation of neuron differentiation GO:0045665 9.9 ISL1 JAG1 NOTCH1
11 pattern specification process GO:0007389 9.9 HEY2 TBX1 TBX5
12 embryonic limb morphogenesis GO:0030326 9.9 GJA5 NOTCH1 TBX5
13 heart morphogenesis GO:0003007 9.89 ISL1 NKX2-5 TBX1
14 cell communication GO:0007154 9.88 GJA1 GJA5 JAG1
15 ventricular septum development GO:0003281 9.88 CITED2 GATA4 GJA5 TBX5
16 cardiac muscle cell differentiation GO:0055007 9.88 GATA4 GATA6 NKX2-5 TBX5
17 positive regulation of BMP signaling pathway GO:0030513 9.87 GATA4 GATA6 NOTCH1
18 embryonic heart tube development GO:0035050 9.86 GJA1 GJA5 NKX2-5 NKX2-6
19 pharyngeal system development GO:0060037 9.85 ISL1 NKX2-5 NKX2-6 TBX1
20 cardiac muscle tissue development GO:0048738 9.83 GATA6 NKX2-5 ZFPM2
21 negative regulation of cardiac muscle cell proliferation GO:0060044 9.83 CITED2 GJA1 TBX5
22 positive regulation of cardiac muscle cell proliferation GO:0060045 9.83 GATA6 HEY2 NOTCH1 TBX5 ZFPM2
23 ventricular trabecula myocardium morphogenesis GO:0003222 9.82 HEY2 NKX2-5 NOTCH1
24 cardiac right ventricle morphogenesis GO:0003215 9.81 GATA4 HEY2 ISL1 JAG1
25 pulmonary valve morphogenesis GO:0003184 9.8 HEY2 JAG1 NOTCH1
26 endocardial cushion development GO:0003197 9.8 CITED2 GATA4 NOTCH1 TBX5
27 outflow tract septum morphogenesis GO:0003148 9.8 GATA6 ISL1 NKX2-5 TBX1 ZFPM2
28 ventricular cardiac muscle cell development GO:0055015 9.79 HEY2 NKX2-5 NKX2-6
29 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.78 GJA1 GJA5
30 Notch signaling involved in heart development GO:0061314 9.78 HEY2 JAG1 NOTCH1
31 cardiac septum morphogenesis GO:0060411 9.78 CITED2 HEY2 JAG1 NOTCH1
32 cell fate specification GO:0001708 9.77 NOTCH1 TBX1
33 negative regulation of myotube differentiation GO:0010832 9.77 NKX2-5 NOTCH1
34 endocardial cushion morphogenesis GO:0003203 9.77 ISL1 NOTCH1
35 heart trabecula formation GO:0060347 9.77 HEY2 NKX2-5
36 aorta morphogenesis GO:0035909 9.77 JAG1 TBX1
37 cardiac muscle hypertrophy in response to stress GO:0014898 9.77 GATA6 HEY2
38 intestinal epithelial cell differentiation GO:0060575 9.77 GATA4 GATA5 GATA6
39 pulmonary artery morphogenesis GO:0061156 9.77 CITED2 HEY2 JAG1
40 cardiac muscle cell proliferation GO:0060038 9.76 NKX2-5 NOTCH1
41 regulation of blood vessel diameter GO:0097746 9.76 GJA5 NPPB
42 smooth muscle cell differentiation GO:0051145 9.76 GATA6 HEY2
43 adult heart development GO:0007512 9.76 GJA1 NKX2-5
44 negative regulation of stem cell differentiation GO:2000737 9.76 JAG1 NOTCH1
45 left/right axis specification GO:0070986 9.76 CITED2 NOTCH1
46 cardiac ventricle morphogenesis GO:0003208 9.76 GATA4 HEY2 NKX2-5 NOTCH1
47 cardiac epithelial to mesenchymal transition GO:0060317 9.75 HEY2 NOTCH1
48 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.75 GJA1 GJA5
49 cardiac muscle tissue morphogenesis GO:0055008 9.75 NKX2-5 NOTCH1
50 response to muramyl dipeptide GO:0032495 9.75 JAG1 NOTCH1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.85 GATA4 GATA6 HEY2 NKX2-5 TBX5 ZFPM2
2 transcription regulatory region DNA binding GO:0044212 9.84 GATA4 GATA5 GATA6 NKX2-5
3 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.72 GATA4 GATA5 GATA6 NKX2-5 TBX5
4 chromatin binding GO:0003682 9.7 CITED2 GATA4 GATA5 GATA6 ISL1 NKX2-5
5 DNA binding transcription factor activity GO:0003700 9.7 CITED2 GATA4 GATA5 GATA6 HEY2 HIRA
6 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.69 GATA5 GATA6 NKX2-5
7 RNA polymerase II transcription coactivator activity GO:0001105 9.65 CITED2 ISL1 ZFPM2
8 RNA polymerase II activating transcription factor binding GO:0001102 9.63 CITED2 HEY2 ISL1
9 enhancer sequence-specific DNA binding GO:0001158 9.58 GATA4 GATA5 ISL1
10 transcriptional activator activity, RNA polymerase II transcription factor binding GO:0001190 9.56 NKX2-5 NOTCH1
11 RNA polymerase II transcription factor binding GO:0001085 9.56 GATA4 GATA5 GATA6 ZFPM2
12 gap junction channel activity GO:0005243 9.55 GJA1 GJA5
13 connexin binding GO:0071253 9.49 GJA1 GJA5
14 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.43 GJA1 GJA5
15 sequence-specific DNA binding GO:0043565 9.32 GATA4 GATA5 GATA6 HEY2 ISL1 NKX2-5
16 DNA binding GO:0003677 10.18 GATA4 GATA5 GATA6 HEY2 ISL1 NKX2-5

Sources for Tetralogy of Fallot

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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