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MCID: TTR001
MIFTS: 69

Tetralogy of Fallot

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tetralogy of Fallot

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MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot 57 12 53 59 75 37 29 13 6 44 15 63 40
Tof 57 53 75
Fallot Tetralogy 76 53
Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
tetralogy of fallot:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 187500
Disease Ontology 12 DOID:6419
ICD10 33 Q21.3
ICD9CM 35 745.2
MeSH 44 D013771
NCIt 50 C84505
Orphanet 59 ORPHA3303
MESH via Orphanet 45 D013771
UMLS via Orphanet 74 C0039685
ICD10 via Orphanet 34 Q21.3
MedGen 42 C0039685
KEGG 37 H00549
UMLS 73 C0039685
Sources

Summaries for Tetralogy of Fallot

About this section
NIH Rare Diseases : 53 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 digeorge syndrome and conotruncal heart malformations. 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 Spironolactone and Eplerenone have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and lung, and related phenotypes are cryptorchidism and thin vermilion border

UniProtKB/Swiss-Prot : 75 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 : 63 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 : 76 Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms include episodes of... more...

Description from OMIM: 187500
Sources

Related Diseases for Tetralogy of Fallot

About this section

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 248)
# Related Disease Score Top Affiliating Genes
1 digeorge syndrome 33.5 HIRA TBX1 UFD1
2 conotruncal heart malformations 32.7 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
3 transposition of the great arteries 32.2 GDF1 NKX2-5 ZFPM2
4 diaphragmatic hernia, congenital 31.6 GATA4 GATA6 ZFPM2
5 holt-oram syndrome 31.5 NKX2-5 TBX1 TBX5
6 atrioventricular block 31.3 GATA4 NKX2-5 TBX5
7 atrioventricular septal defect 31.2 GATA4 GATA6 GDF1 GJA1 NKX2-5 NKX2-6
8 atrial fibrillation 31.1 GATA5 GATA6 GJA1 GJA5 TBX5
9 double outlet right ventricle 30.9 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX1
10 pulmonary valve stenosis 30.8 GATA4 JAG1 NKX2-6 TBX5
11 dilated cardiomyopathy 30.8 GATA4 GATA5 GJA1 GJA5 NKX2-5 TBX20
12 patent ductus arteriosus 1 30.7 GATA4 GATA6 GDF1 NKX2-6
13 atrial heart septal defect 30.7 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX20
14 tricuspid atresia 30.7 GDF1 NKX2-5 NKX2-6 ZFPM2
15 ebstein anomaly 30.4 GATA4 GDF1 NKX2-5 NKX2-6
16 ventricular septal defect 29.7 CITED2 GATA4 GATA5 GATA6 GDF1 JAG1
17 heart disease 28.7 CITED2 GATA4 GATA5 GATA6 GDF1 GJA1
18 tetralogy of fallot and glaucoma 12.4
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 partial atrioventricular canal 11.2 GATA4 GATA6
27 complete atrioventricular canal-ventricle hypoplasia syndrome 11.2 GATA4 GATA6
28 familial bicuspid aortic valve 11.2 GATA5 NKX2-5 NOTCH1
29 heart, malformation of 11.1 NOTCH1 TBX5
30 adams-oliver syndrome 1 11.1
31 heart defects, congenital, and other congenital anomalies 11.1
32 fallot complex with severe mental and growth retardation 11.1
33 megalencephaly-capillary malformation-polymicrogyria syndrome 11.1
34 congenital heart defects, multiple types, 6 11.1
35 ventricular septal defect 1 11.1
36 ventricular septal defect 3 11.1
37 adams-oliver syndrome 5 11.1
38 adams-oliver syndrome 6 11.1
39 ritscher-schinzel syndrome 11.1
40 chaotic atrial tachycardia 11.1
41 maternal hyperphenylalaninemia 11.1
42 phenobarbital antenatal exposure 11.1
43 patent foramen ovale 11.1 GATA4 NKX2-5 TBX20 TBX5
44 46,xy partial gonadal dysgenesis 11.0 GATA4 ZFPM2
45 pseudopapilledema 10.9 JAG1 RET
46 nodular regenerative hyperplasia 10.7 JAG1 NOTCH1
47 tricuspid valve disease 10.5 GATA6 GDF1 NKX2-5 NKX2-6
48 pulmonary valve disease 10.5 GATA4 GATA6 NKX2-6 TBX5
49 complete atrioventricular canal 10.5
50 tricuspid valve stenosis 10.4 GJA1 JAG1 NKX2-6 NOTCH1

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



Diseases related to Tetralogy of Fallot
Sources

Symptoms & Phenotypes for Tetralogy of Fallot

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Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
3 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
4 broad forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000337
5 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
6 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
7 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
8 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
9 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
10 preauricular pit 59 32 frequent (33%) Frequent (79-30%) HP:0004467
11 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105
12 underdeveloped supraorbital ridges 59 32 frequent (33%) Frequent (79-30%) HP:0009891

MGI Mouse Phenotypes related to Tetralogy of Fallot:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.54 NOTCH1 NKX2-5 NKX2-6 NIPBL TBX20 TBX5
2 cellular MP:0005384 10.45 NIPBL NKX2-6 NOTCH1 NKX2-5 JAG1 TBX20
3 embryo MP:0005380 10.42 NOTCH1 NKX2-5 NKX2-6 NIPBL TBX20 TBX5
4 growth/size/body region MP:0005378 10.4 NIPBL NKX2-6 NKX2-5 JAG1 RET TBX20
5 homeostasis/metabolism MP:0005376 10.4 NKX2-6 NKX2-5 JAG1 RET TBX20 NOTCH1
6 mortality/aging MP:0010768 10.36 NOTCH1 NKX2-5 JAG1 NKX2-6 NIPBL TBX20
7 endocrine/exocrine gland MP:0005379 10.31 NKX2-5 JAG1 RET NOTCH1 TBX1 ZFPM2
8 hematopoietic system MP:0005397 10.29 NKX2-5 JAG1 RET NOTCH1 TBX1 GATA6
9 digestive/alimentary MP:0005381 10.26 NKX2-5 JAG1 RET NOTCH1 TBX1 GATA4
10 craniofacial MP:0005382 10.22 NIPBL NKX2-5 JAG1 NOTCH1 TBX1 CITED2
11 immune system MP:0005387 10.22 NIPBL NKX2-5 RET NOTCH1 TBX1 GATA5
12 muscle MP:0005369 10.21 NOTCH1 NKX2-5 JAG1 TBX20 TBX1 RET
13 normal MP:0002873 10.09 NOTCH1 NKX2-5 NKX2-6 NIPBL TBX5 TBX1
14 integument MP:0010771 10.06 NKX2-5 JAG1 NOTCH1 TBX1 ZFPM2 GATA4
15 nervous system MP:0003631 10.06 NIPBL NKX2-5 JAG1 RET NOTCH1 TBX1
16 limbs/digits/tail MP:0005371 10.03 NIPBL RET TBX1 TBX5 GATA6 GATA4
17 no phenotypic analysis MP:0003012 9.91 NKX2-5 JAG1 RET TBX20 ZFPM2 GATA4
18 respiratory system MP:0005388 9.73 NKX2-6 NOTCH1 NKX2-5 TBX1 RET ZFPM2
19 skeleton MP:0005390 9.36 NIPBL JAG1 NOTCH1 TBX1 TBX5 GATA4
Sources

Drugs & Therapeutics for Tetralogy of Fallot

About this section

PubMedHealth treatment related to Tetralogy of Fallot: 63

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
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Eplerenone Approved Phase 4 107724-20-9 150310 443872
3 diuretics Phase 4,Phase 2,Phase 3
4 Natriuretic Agents Phase 4,Phase 2,Phase 3
5 Hormones Phase 4
6 Mineralocorticoid Receptor Antagonists Phase 4
7 Mineralocorticoids Phase 4
8 Hormone Antagonists Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Hormones, Hormone Substitutes, and 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 Adrenergic Agents Phase 3,Phase 1,Not Applicable
14 Adrenergic Agonists Phase 3,Phase 1,Not Applicable
15 Adrenergic beta-Agonists Phase 3,Not Applicable
16 Neurotransmitter Agents Phase 3,Phase 1,Not Applicable
17 Peripheral Nervous System Agents Phase 3,Phase 1,Not Applicable
18 Protective Agents Phase 3,Not Applicable
19 Autonomic Agents Phase 3,Not Applicable
20
Losartan Approved Phase 2 114798-26-4 3961
21
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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,Not Applicable 113775-47-6 68602 5311068
28 Analgesics Phase 1,Not Applicable
29 Central Nervous System Depressants Phase 1,Not Applicable
30 Adrenergic alpha-2 Receptor Agonists Phase 1,Not Applicable
31 Adrenergic alpha-Agonists Phase 1,Not Applicable
32 Analgesics, Non-Narcotic Phase 1,Not Applicable
33 Hypnotics and Sedatives Phase 1,Not Applicable
34
Fentanyl Approved, Illicit, Investigational, Vet_approved Not Applicable 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 Not Applicable 11103-57-4, 68-26-8 445354
38 Adjuvants, Anesthesia Not Applicable
39 Chelating Agents
40 Narcotics Not Applicable
41 Analgesics, Opioid Not Applicable
42 Anesthetics ,Not Applicable
43 Anesthetics, General Not Applicable
44 Anesthetics, Intravenous Not Applicable
45 Anticoagulants
46 Bone Density Conservation Agents
47 Calcium, Dietary
48 Retinol palmitate Not Applicable
49 Tin Fluorides
50 Citrate Nutraceutical

Interventional clinical trials:

(show top 50) (show all 56)
# 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 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
9 Understanding Dexmedetomidine in Neonates After Open Heart Surgery Completed NCT00576381 Phase 1 Dexmedetomidine
10 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Unknown status NCT02186691 Not Applicable
11 Biomodel in Tetralogy of Fallot Unknown status NCT00155428 Not Applicable
12 T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart Disease Unknown status NCT02350829 Not Applicable
13 Exercise Training in Adults With Corrected Tetralogy of Fallot Completed NCT02643810 Not Applicable
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 Not Applicable
18 Right Ventricular Contractility Reserve Following Repair of Tetralogy of Fallot Completed NCT00557934 Not Applicable
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 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
22 Early Revalvulation After Fallot Repair Improves Clinical Outcome Completed NCT02534792
23 Predictors for Pulmonary Valve Replacement - Anatomic and Hemodynamic Using MRI Completed NCT00489788
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 Not Applicable Fentanyl;Fentanyl;Dexmedetomidine and Fentanyl
27 Pulmonary Artery Repair With Covered Stents Completed NCT01824160 Not Applicable
28 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
29 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
30 Quality of Life in Young Adults With Congenital Heart Disease Completed NCT02463292
31 Pilot Study of B-Type Natrieutic Peptide (BNP) Levels in Patients With Congenital Heart Disease(BNP) Completed NCT00308230 Not Applicable
32 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
33 Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome Completed NCT00713635
34 Tetralogy of Fallot for Life Recruiting NCT02968264
35 Imaging by 4 DFlow in Patients With Tetralogy of Fallot Recruiting NCT03542968 Not Applicable
36 Reoxygenation for Cyanotic Pediatric CHD Recruiting NCT03568357
37 Effects of Changes in Fluid Status on Right Ventricular Volumes and Function Recruiting NCT02967315 Not Applicable
38 Haemodynamics and Function of the Atria in Congenital Heart Disease by Cardiovascular Magnetic Resonance Recruiting NCT02161471
39 Calcium Current in Human Heart Cells Recruiting NCT00243776
40 Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients Recruiting NCT02861963 Not Applicable
41 Stress Echo 2020 - The International Stress Echo Study Recruiting NCT03049995
42 The Medtronic Harmony™ Transcatheter Pulmonary Valve Clinical Study Recruiting NCT02979587 Not Applicable
43 Integrated Computational modelIng of Right Heart Mechanics and Blood Flow Dynamics in Congenital Heart Disease Recruiting NCT03217240
44 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708 Not Applicable
45 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777 Not Applicable
46 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Recruiting NCT02987387 Not Applicable
47 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Not Applicable
48 Study of the Native Outflow Tract Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT01762124 Not Applicable
49 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100 Not Applicable
50 Comparison of RVOT Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing TOF Repair Enrolling by invitation NCT03234582

Search NIH Clinical Center for Tetralogy of Fallot

Cochrane evidence based reviews: tetralogy of fallot

Sources

Genetic Tests for Tetralogy of Fallot

About this section

Genetic tests related to Tetralogy of Fallot:

# Genetic test Affiliating Genes
1 Tetralogy of Fallot 29 GATA4 GATA6 GDF1 JAG1 NKX2-5 TBX1 ZFPM2
Sources

Anatomical Context for Tetralogy of Fallot

About this section

MalaCards organs/tissues related to Tetralogy of Fallot:

41
Heart, Skin, Lung, Brain, Testes, Bone, Eye
Sources

Publications for Tetralogy of Fallot

About this section

Articles related to Tetralogy of Fallot:

(show top 50) (show all 1223)
# Title Authors Year
1
Misplaced Central Venous Catheter in Carotid Artery during Emergency Surgery for the Total Correction of Tetralogy of Fallot of an Adolescent Boy. ( 29848429 )
2018
2
Clinical Predictors of Right Ventricular Myocardial Fibrosis in Patients With Repaired Tetralogy of Fallot. ( 29353862 )
2018
3
Population Pharmacokinetic Modeling of Remifentanil in Infants with Unrepaired Tetralogy of Fallot. ( 29915955 )
2018
4
Early postoperative remodelling following repair of tetralogy of Fallot utilising unsedated cardiac magnetic resonance: a pilot study. ( 29444724 )
2018
5
Scalp block for drainage of cerebral abscess in a patient with tetralogy of Fallot. ( 29909206 )
2018
6
Functional outcome in contemporary children and young adults with tetralogy of Fallot after repair. ( 29970581 )
2018
7
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
8
Association of Habitual Activity and Body Mass Index in Survivors of Congenital Heart Surgery: A Study of Children and Adolescents With Tetralogy of Fallot, Transposition of the Great Arteries, and Fontan Palliation. ( 29544424 )
2018
9
Right ventricular contractile reserve in tetralogy of Fallot patients with pulmonary regurgitation. ( 29314646 )
2018
10
Quantification of Right Ventricular Electromechanical Dyssynchrony in Relation to Right Ventricular Function and Clinical Outcomes in Children with Repaired Tetralogy of Fallot. ( 29976349 )
2018
11
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot. ( 29230941 )
2018
12
Impact of surgery on presence and dimensions of anatomical isthmuses in tetralogy of Fallot. ( 29305559 )
2018
13
Tetralogy of Fallot Repair in Developing Countries: International Quality Improvement Collaborative. ( 29969617 )
2018
14
Differences in regional diastolic function between restrictive and normal physiology of right ventricle in adult patients late after tetralogy of Fallot repair. ( 29974448 )
2018
15
Exercise training in adults with repaired tetralogy of Fallot: A randomized controlled pilot study of continuous versus interval training. ( 29338917 )
2018
16
Short-Axis Diastolic Ventricular Area Ratio as a New Index in Screening Patients with Repaired Tetralogy of Fallot. ( 29767292 )
2018
17
Association of dead space ventilation and prolonged ventilation after repair of tetralogy of Fallot with pulmonary atresia. ( 29884495 )
2018
18
NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot. ( 29363855 )
2018
19
Ascending aorta in tetralogy of Fallot: Beyond echocardiographic dimensions. ( 29900594 )
2018
20
The Role of Ablation Therapy for Ventricular Tachycardia in Patients with Tetralogy of Fallot. ( 29408326 )
2018
21
3D Printing Provides a Precise Approach in the Treatment of Tetralogy of Fallot, Pulmonary Atresia with Major Aortopulmonary Collateral Arteries. ( 29397465 )
2018
22
Bilateral branch pulmonary artery valve implantation in repaired tetralogy of fallot. ( 29357196 )
2018
23
Functional polymorphisms of the neuropilin 1 gene are associated with the risk of tetralogy of Fallot in a Chinese Han population. ( 29432830 )
2018
24
Recent advances in transcatheter management of pulmonary regurgitation after surgical repair of tetralogy of Fallot. ( 29904583 )
2018
25
Tetralogy of Fallot with left ventricular clot. ( 29333749 )
2018
26
Surgical strategies protecting against right ventricular dilatation following tetralogy of Fallot repair. ( 29357937 )
2018
27
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
28
Perioperative Electrophysiology Study in Tetralogy of Fallot Patients Undergoing Pulmonary Valve Replacement Will Identify Those at High Risk for Subsequent Ventricular Tachycardia. ( 29330130 )
2018
29
Comprehensive Management of Major Aortopulmonary Collaterals in the Repair of Tetralogy of Fallot. ( 29425528 )
2018
30
Junctional ectopic tachycardia following tetralogy of fallot repair in children under 2A years. ( 29871684 )
2018
31
Combined Surgical and Medical Therapy for Candida Prosthetic Endocarditis in a Patient with Repaired Tetralogy of Fallot. ( 29877302 )
2018
32
Subaortic ventricular pouch in repaired tetralogy of Fallot mimicking right coronary artery aneurysm. ( 29501460 )
2018
33
Pulmonary valve replacement after repaired Tetralogy of Fallot. ( 29779123 )
2018
34
Long-term results of pulmonary valve annular enlargement with valve repair in tetralogy of Fallot. ( 29365090 )
2018
35
Prevention of sudden cardiac death in patients with Tetralogy of Fallot: Risk assessment and long term outcome. ( 29980366 )
2018
36
Implication of Aortic Root Dilation and Stiffening in Patients with Tetralogy of Fallot. ( 29876583 )
2018
37
Effects of eplerenone on markers of myocardial fibrosis, 6-minute walk distance, and quality of life in adults with tetralogy of Fallot and complete transposition of the great arteries. ( 29686545 )
2018
38
Pregnacy and Delivery in a Patient After Tetralogy of Fallot Surgery Being Undergone. ( 29416223 )
2018
39
Impact of surgical pulmonary valve replacement on ventricular strain and synchrony in patients with repaired tetralogy of Fallot: a cardiovascular magnetic resonance feature tracking study. ( 29909772 )
2018
40
Cross-sectional Areas of the Thoracic Aorta in Children and Adolescents With Repaired Tetralogy of Fallot Obtained by Cardiac Magnetic Resonance Angiography. ( 29232281 )
2018
41
Predictors of Length of Hospital Stay After Complete Repair for Tetralogy of Fallot: A Prospective Cohort Study. ( 29769202 )
2018
42
Perioperative Factors Influence the Long-Term Outcomes of Children and Adolescents with Repaired Tetralogy of Fallot. ( 29876584 )
2018
43
Sequential Melody Valve Insertion After Repair of Tetralogy of Fallot Atrioventricular Septal Defect. ( 29455823 )
2018
44
Tetralogy of Fallot with aortopulmonary window and interrupted aortic arch: multimodality imaging in a rare association. ( 29617968 )
2018
45
Anesthetic Outcomes in Tetralogy of Fallot With Absent Pulmonary Valve. ( 28465119 )
2017
46
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia. ( 28497001 )
2017
47
Restrictive enlargement of the pulmonary annulus at repair of tetralogy of Fallot: a comparative 10-year follow-up study. ( 28549113 )
2017
48
Successful treatment of a hepatic-hemangioendothelioma infant presenting with hypothyroidism and tetralogy of Fallot. ( 28838853 )
2017
49
Turbulent kinetic energy in the right ventricle: Potential MR marker for risk stratification of adults with repaired Tetralogy of Fallot. ( 28766919 )
2017
50
Development of quality metrics for ambulatory care in pediatric patients with tetralogy of Fallot. ( 28880457 )
2017
Sources

Variations for Tetralogy of Fallot

About this section

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

75 (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 25)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX1 TBX1, 30-BP DUP, NT1399 duplication Pathogenic
2 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh37 Chromosome 20, 10633181: 10633181
3 JAG1 NM_000214.2(JAG1): c.821G> A (p.Gly274Asp) single nucleotide variant Likely pathogenic rs28939668 GRCh38 Chromosome 20, 10652533: 10652533
4 NKX2-5 NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs104893905 GRCh37 Chromosome 5, 172659901: 172659901
5 NKX2-5 NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys) single nucleotide variant Pathogenic rs104893905 GRCh38 Chromosome 5, 173232898: 173232898
6 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh37 Chromosome 10, 43617416: 43617416
7 RET NM_020975.4(RET): c.2753T> C (p.Met918Thr) single nucleotide variant Pathogenic rs74799832 GRCh38 Chromosome 10, 43121968: 43121968
8 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh37 Chromosome 8, 11566308: 11566308
9 GATA4 NM_002052.4(GATA4): c.487C> T (p.Pro163Ser) single nucleotide variant Pathogenic rs387906769 GRCh38 Chromosome 8, 11708799: 11708799
10 GATA4 GATA4, 3-BP INS, 354GCC insertion Pathogenic
11 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh37 Chromosome 18, 19751656: 19751656
12 GATA6 NM_005257.5(GATA6): c.551G> A (p.Ser184Asn) single nucleotide variant Pathogenic rs387906816 GRCh38 Chromosome 18, 22171695: 22171695
13 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh37 Chromosome 7, 100417496: 100417496
14 EPHB4 NM_004444.4(EPHB4): c.980C> T (p.Pro327Leu) single nucleotide variant Likely pathogenic rs1057515420 GRCh38 Chromosome 7, 100819874: 100819874
15 NOTCH1 NM_017617.4(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh37 Chromosome 9, 139417466: 139417466
16 NOTCH1 NM_017617.4(NOTCH1): c.578G> A (p.Gly193Asp) single nucleotide variant Pathogenic rs774966208 GRCh38 Chromosome 9, 136523014: 136523014
17 46;XX;t(7;12)(q11.2;q12).ish Translocation Uncertain significance
18 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh37 Chromosome 15, 63335144: 63335144
19 TPM1 NM_001018005.1(TPM1): c.114+2T> C single nucleotide variant Likely pathogenic rs1114167357 GRCh38 Chromosome 15, 63042945: 63042945
20 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 19748778: 19748778
21 TBX1 NM_080647.1(TBX1): c.385G> A (p.Glu129Lys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 19761255: 19761255
22 IRX4 NM_001278633.1(IRX4): c.1250C> T (p.Pro417Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 1878357: 1878357
23 IRX4 NM_001278633.1(IRX4): c.1250C> T (p.Pro417Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 1878471: 1878471
24 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh38 Chromosome 5, 37058939: 37058939
25 NIPBL NM_133433.3(NIPBL): c.7459delG (p.Glu2487Lysfs) deletion Pathogenic GRCh37 Chromosome 5, 37059041: 37059041

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
Sources

Expression for Tetralogy of Fallot

About this section
Search GEO for disease gene expression data for Tetralogy of Fallot.
Sources

Pathways for Tetralogy of Fallot

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Pathways related to Tetralogy of Fallot according to KEGG:

37
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

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

# Super pathways Score Top Affiliating Genes
1
Mesodermal Commitment Pathway 1
Show member pathways
 12.26 GATA4 GATA6 NOTCH1 TBX1
2
BMP Pathway 64
Show member pathways
 12.19 GATA4 GATA5 GATA6 NKX2-5
3
Factors involved in megakaryocyte development and platelet production 66
11.82 GATA4 GATA5 GATA6 ZFPM2
4
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.68 GATA4 GJA1 NKX2-5 NOTCH1 TBX5
5
Notch-mediated HES/HEY network 1
11.23 GATA4 GATA6 NOTCH1
6
Cardiac Progenitor Differentiation 1
11.08 GATA4 NKX2-5 NOTCH1 TBX20 TBX5
7
Heart Development 1
10.83 GATA4 GATA6 NKX2-5 NOTCH1 TBX1 TBX20
8
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
10.69 JAG1 NOTCH1
9
NOTCH1 regulation of human endothelial cell calcification 1
10.69 GJA5 JAG1 NOTCH1
10
HOP Signaling 64
10.18 GATA4 NKX2-5
Sources

GO Terms for Tetralogy of Fallot

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.8 CITED2 GATA4 GATA5 GATA6 HIRA NIPBL
2 protein-containing complex GO:0032991 9.55 CITED2 GJA1 HIRA NKX2-5 TBX5
3 nucleoplasm GO:0005654 9.36 CITED2 GATA4 GATA5 GATA6 GJA1 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 negative regulation of cell migration GO:0030336 9.95 CITED2 JAG1 TBX5
2 male gonad development GO:0008584 9.95 CITED2 GATA4 GATA6
3 lung development GO:0030324 9.94 NOTCH1 TBX5 ZFPM2
4 liver development GO:0001889 9.93 CITED2 GATA6 NOTCH1
5 determination of left/right symmetry GO:0007368 9.92 CITED2 NOTCH1 TBX1
6 cell fate commitment GO:0045165 9.92 GATA4 GATA5 GATA6 NOTCH1
7 negative regulation of cell differentiation GO:0045596 9.91 JAG1 NOTCH1 TBX1
8 cell development GO:0048468 9.91 GATA4 GATA5 GATA6 GDF1
9 digestive tract development GO:0048565 9.91 GATA4 GATA5 GATA6 NIPBL NKX2-6
10 vasculogenesis GO:0001570 9.9 CITED2 NKX2-5 ZFPM2
11 embryonic limb morphogenesis GO:0030326 9.9 GJA5 NOTCH1 TBX5
12 blood vessel development GO:0001568 9.9 CITED2 GJA5 TBX1
13 heart morphogenesis GO:0003007 9.89 NIPBL NKX2-5 TBX1
14 cell communication GO:0007154 9.89 GJA1 GJA5 JAG1
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.89 GATA6 NOTCH1 TBX20 TBX5 ZFPM2
16 ventricular septum morphogenesis GO:0060412 9.88 CITED2 GJA5 NKX2-5 NOTCH1 ZFPM2
17 heart looping GO:0001947 9.88 CITED2 GATA4 GJA1 NKX2-5 NOTCH1 TBX20
18 positive regulation of BMP signaling pathway GO:0030513 9.87 GATA4 GATA6 NOTCH1
19 tissue development GO:0009888 9.86 GATA4 GATA5 GATA6
20 ventricular septum development GO:0003281 9.86 CITED2 GATA4 GJA5 TBX5
21 cardiac muscle cell differentiation GO:0055007 9.85 GATA4 GATA6 NKX2-5 TBX5
22 outflow tract septum morphogenesis GO:0003148 9.85 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
23 anatomical structure formation involved in morphogenesis GO:0048646 9.83 GATA4 GATA5 GATA6
24 cardiac muscle tissue development GO:0048738 9.83 GATA6 NKX2-5 ZFPM2
25 endocardial cushion development GO:0003197 9.83 CITED2 GATA4 NOTCH1 TBX5
26 negative regulation of cardiac muscle cell proliferation GO:0060044 9.82 CITED2 GJA1 TBX5
27 pharyngeal system development GO:0060037 9.81 NKX2-5 NKX2-6 TBX1
28 cardiac muscle tissue morphogenesis GO:0055008 9.8 NKX2-5 NOTCH1 TBX20
29 cardiac right ventricle morphogenesis GO:0003215 9.79 GATA4 JAG1 TBX20
30 cell fate specification GO:0001708 9.78 NOTCH1 TBX1
31 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.77 GJA1 GJA5
32 negative regulation of myotube differentiation GO:0010832 9.77 NKX2-5 NOTCH1
33 endocardial cushion morphogenesis GO:0003203 9.77 NOTCH1 TBX20
34 ventricular trabecula myocardium morphogenesis GO:0003222 9.77 NKX2-5 NOTCH1
35 adult heart development GO:0007512 9.77 GJA1 NKX2-5
36 cardiac septum morphogenesis GO:0060411 9.77 CITED2 JAG1 NOTCH1
37 cardiac ventricle morphogenesis GO:0003208 9.77 GATA4 NKX2-5 NOTCH1
38 embryonic heart tube development GO:0035050 9.77 GJA1 GJA5 NKX2-5 NKX2-6 TBX20
39 aorta morphogenesis GO:0035909 9.76 JAG1 TBX1
40 negative regulation of stem cell differentiation GO:2000737 9.76 JAG1 NOTCH1
41 cardiac muscle cell proliferation GO:0060038 9.76 NKX2-5 NOTCH1
42 left/right axis specification GO:0070986 9.76 CITED2 NOTCH1
43 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.76 GJA1 GJA5
44 response to muramyl dipeptide GO:0032495 9.76 JAG1 NOTCH1
45 ventricular cardiac muscle cell development GO:0055015 9.75 NKX2-5 NKX2-6
46 forelimb morphogenesis GO:0035136 9.75 NIPBL TBX5
47 atrioventricular valve morphogenesis GO:0003181 9.75 NOTCH1 TBX5
48 embryonic viscerocranium morphogenesis GO:0048703 9.75 NIPBL TBX1
49 pulmonary valve morphogenesis GO:0003184 9.75 JAG1 NOTCH1
50 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.75 GJA1 GJA5

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.86 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 NOTCH1
2 transcription factor binding GO:0008134 9.85 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
3 transcription regulatory region DNA binding GO:0044212 9.83 GATA4 GATA5 GATA6 NKX2-5
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.81 GATA4 GATA5 GATA6 TBX20
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.72 GATA4 GATA5 GATA6 NKX2-5 TBX5
6 chromatin binding GO:0003682 9.7 CITED2 GATA4 GATA5 GATA6 NIPBL NKX2-5
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.67 GATA5 GATA6 NKX2-5
8 gap junction channel activity GO:0005243 9.54 GJA1 GJA5
9 connexin binding GO:0071253 9.48 GJA1 GJA5
10 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.4 GJA1 GJA5
11 DNA binding transcription factor activity GO:0003700 9.36 CITED2 GATA4 GATA5 GATA6 HIRA NKX2-5
12 RNA polymerase II transcription factor binding GO:0001085 9.35 GATA4 GATA5 GATA6 TBX20 ZFPM2
13 DNA binding GO:0003677 10.13 GATA4 GATA5 GATA6 HIRA NKX2-5 NKX2-6
14 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 10.02 GATA4 GATA5 GATA6 NKX2-5 NKX2-6 TBX1
Sources

Sources for Tetralogy of Fallot

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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