Tetralogy of Fallot disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

TOF MCID: TTR001 MIFTS: 70	Tetralogy of Fallot (TOF) Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Tetralogy of Fallot

MalaCards integrated aliases for Tetralogy of Fallot:

Name: Tetralogy of Fallot ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ⁷³ ²⁸ ¹² ⁵ ⁴³ ¹⁴ ⁶³ ⁷⁵ ³¹ ³³

Fallot Tetralogy ¹⁹ ⁷⁵ ³³

Tof ⁵⁷ ¹⁹ ⁷³

Ventricular Septal Defect with Pulmonary Stenosis or Atresia, Dextraposition of Aorta, and Hypertrophy of Right Ventricle ¹¹ ³³

Interventricular Septal Defect with Dextroposition of Aorta, Pulmonary Stenosis and Hypertrophy of Right Ventricle ³³

Pulmonary Atresia with Ventricular Septal Defect and Systemic-to-Pulmonary Collateral Arteries [fallot Type] ³³

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, and Right Ventricular Hypertrophy ³³

Ventricular Septal Defect with Obstructed Right Ventricular Outflow ³³

Pulmonary Atresia with Ventricular Septal Defect [fallot Type] ³³

Pulmonary Atresia, Ventricular Septal Defect and Mapcas ³³

Interventricular Septal Defect, in Tetralogy of Fallot ³³

Tof - [tetralogy of Fallot] ³³

Tetrad of Fallot ³³

Fallot Disease ³³

Fallot Complex ³³

Fallot Tetrad ³³

Characteristics:

Inheritance:

Autosomal dominant,Multigenic/multifactorial ⁵⁸ , Autosomal dominant ⁵⁷

Prevelance:

1-5/10000 (Worldwide, Europe, Austria, Belgium, Croatia, Denmark, France, Germany, Hungary, Ireland, Italy, Malta, Netherlands, Norway, Poland, Portugal, Spain, Switzerland, United Kingdom, Ukraine, United States, China) 6-9/10000 (Taiwan, Province of China) ⁵⁸

Age Of Onset:

Antenatal,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Tetralogy of Fallot

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the circulatory system

Structural developmental anomaly of heart or great vessels

Congenital anomaly of a ventricle or the ventricular septum

Tetralogy of Fallot

Other specified tetralogy of Fallot

Tetralogy of Fallot with absent pulmonary valve syndrome

Tetralogy of Fallot with pulmonary atresia

Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery

Tetralogy of Fallot, unspecified

Orphanet: ⁵⁸

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹¹ DOID:6419

OMIM® ⁵⁷ 187500

ICD9CM ³⁴ 745.2

MeSH ⁴³ D013771

NCIt ⁴⁹ C84505

SNOMED-CT ⁶⁸ 156913009

ICD10 ³¹ Q21.3

MESH via Orphanet ⁴⁴ D013771

ICD10 via Orphanet ³² Q21.3

UMLS via Orphanet ⁷² C0039685

Orphanet ⁵⁸ ORPHA3303

MedGen ⁴⁰ C0039685

SNOMED-CT via HPO ⁶⁹ 18265008 1955003 199612005 more

ICD11 ³³ 1408174111 1640350515 1645917296 more

UMLS ⁷¹ C0039685

Sources

Summaries for Tetralogy of Fallot

GARD: ¹⁹ 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.

MalaCards based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to congenital heart defects, multiple types, 4 and conotruncal heart malformations. An important gene associated with Tetralogy of Fallot is JAG1 (Jagged Canonical Notch Ligand 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and TP53 Regulates Metabolic Genes. The drugs Eplerenone and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and skin, and related phenotypes are abnormal nasal morphology and intrauterine growth retardation

PubMed Health : ⁶³ 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.

UniProtKB/Swiss-Prot: ⁷³ 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.

Orphanet: ⁵⁸ Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Wikipedia: ⁷⁵ Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, is a congenital heart defect... more...

More information from OMIM: 187500

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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 1408)

#	Related Disease	Score	Top Affiliating Genes
1	congenital heart defects, multiple types, 4	33.4	GATA6 GATA4
2	conotruncal heart malformations	33.2	ZFPM2 TBX1 NKX2-5 GDF1 GATA6
3	ventricular septal defect	33.2	ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
4	heart septal defect	33.2	ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
5	congenital heart defects, multiple types, 6	32.8	GDF1 CERS1
6	atrioventricular septal defect	32.6	ZFPM2 TBX1 NOTCH1 NKX2-5 GJA5 GDF1
7	atrial heart septal defect	32.5	ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
8	patent ductus arteriosus 1	32.5	ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GATA6
9	double outlet right ventricle	32.4	ZFPM2-AS1 ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1
10	chromosome 22q11.2 deletion syndrome, distal	32.2	TBX1 NKX2-5 GJA5 GATA4
11	transposition of the great arteries, dextro-looped	32.2	TBX1 NKX2-5 GDF1 GATA4 CERS1
12	heart disease	32.1	TBX1 ROBO1 NOTCH1 NKX2-5 JAG1 GJA5
13	pulmonary valve stenosis	32.1	NKX2-5 JAG1 GATA4
14	atrioventricular block	32.1	NKX2-5 GJA5 GATA4
15	aortic valve disease 1	32.0	TBX1 NOTCH1 NKX2-5 KDR JAG1 GATA6
16	aortic valve disease 2	31.9	NOTCH1 NKX2-5 GATA4
17	ebstein anomaly	31.8	ZFPM2 NKX2-5 GJA5 GATA4
18	patent foramen ovale	31.8	TBX1 NKX2-5 JAG1 GJA5 GATA6 GATA5
19	hypertrophic cardiomyopathy	31.8	NKX2-5 MT-CO3 MT-CO2 MT-CO1 GJA5 GATA4
20	velocardiofacial syndrome	31.5	TBX1 NKX2-5 GATA4
21	diaphragmatic hernia, congenital	31.5	ZFPM2 ROBO1 NIPBL GATA6 GATA4
22	tricuspid atresia	31.5	ZFPM2 TBX1 NKX2-5 GATA6 GATA4
23	hemangioma	31.5	RET NOTCH1 KDR JAG1 FLT4
24	patau syndrome	31.4	TBX1 NKX2-5 GATA4
25	aortic aneurysm, familial thoracic 1	31.4	NOTCH1 NKX2-5 JAG1 GATA6 GATA5 GATA4
26	hypoplastic left heart syndrome	31.4	ZFPM2 TBX1 NOTCH1 NKX2-5 JAG1 GJA5
27	noonan syndrome 1	31.4	TBX1 NOTCH1 NKX2-5 NIPBL JAG1 GJA5
28	right atrial isomerism	31.4	NKX2-5 GJA5 GDF1 CERS1
29	pulmonary valve disease	31.4	NKX2-5 GATA6 GATA4
30	total anomalous pulmonary venous return 1	31.4	NKX2-5 GATA4
31	left ventricular noncompaction	31.3	NOTCH1 NKX2-5 JAG1 GJA5 GATA4
32	holt-oram syndrome	31.3	TBX1 NKX2-5 GJA5 GATA4
33	lipoprotein quantitative trait locus	31.3	NOTCH1 NKX2-5 KDR GJA5 GATA4
34	tricuspid valve disease	31.1	NKX2-5 GATA6 GATA4
35	wolff-parkinson-white syndrome	31.1	NKX2-5 JAG1 GJA5
36	diaphragmatic hernia 3	31.0	ZFPM2-AS1 ZFPM2
37	arteriovenous malformation	31.0	NOTCH1 KDR JAG1
38	46,xy sex reversal 9	30.9	ZFPM2-AS1 ZFPM2 GATA4
39	mitochondrial myopathy, infantile, transient	30.2	MT-CO3 MT-CO2 MT-CO1
40	mitochondrial complex iv deficiency, nuclear type 1	30.1	MT-CO3 MT-CO2 MT-CO1
41	pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome	11.6
42	tetralogy of fallot and glaucoma	11.6
43	hypertelorism and tetralogy of fallot	11.6
44	pulmonary atresia with ventricular septal defect	11.4
45	pulmonary valve insufficiency	11.4
46	fallot complex with severe mental and growth retardation	11.3
47	congenital heart defects, multiple types, 7	11.3
48	digeorge syndrome	11.3
49	ritscher-schinzel syndrome 1	11.3
50	porencephaly, cerebellar hypoplasia, and internal malformations	11.3

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

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Symptoms & Phenotypes for Tetralogy of Fallot

Human phenotypes related to Tetralogy of Fallot:

⁵⁸ ³⁰ (show all 12)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal nasal morphology ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0005105
2	intrauterine growth retardation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001511
3	brachydactyly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001156
4	clinodactyly of the 5th finger ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004209
5	broad forehead ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000337
6	cryptorchidism ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000028
7	dolichocephaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000268
8	tetralogy of fallot ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001636
9	proptosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000520
10	thin vermilion border ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000233
11	underdeveloped supraorbital ridges ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0009891
12	preauricular pit ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004467

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiac:
tetralogy of fallot

Limbs:
fifth finger clinodactyly

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

Facies:
broad forehead
prominent eyes

Ears:
preauricular pits

Clinical features from OMIM®:

187500 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Tetralogy of Fallot:

⁴⁵ (show all 17)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	normal	MP:0002873	10.41	FLT4 GATA4 GATA6 GDF1 GJA5 JAG1
2	homeostasis/metabolism	MP:0005376	10.39	CERS1 FLT4 GATA4 GATA5 GATA6 GJA5
3	muscle	MP:0005369	10.38	FLT4 GATA4 GATA5 GATA6 GJA5 JAG1
4	growth/size/body region	MP:0005378	10.34	CERS1 FLT4 GATA4 GATA6 GDF1 JAG1
5	nervous system	MP:0003631	10.29	CERS1 GATA4 GDF1 JAG1 KDR NIPBL
6	cellular	MP:0005384	10.24	CERS1 GATA4 GATA5 GATA6 GDF1 JAG1
7	endocrine/exocrine gland	MP:0005379	10.22	GATA4 GATA5 GDF1 GJA5 JAG1 NKX2-5
8	cardiovascular system	MP:0005385	10.22	FLT4 GATA4 GATA5 GATA6 GDF1 GJA5
9	embryo	MP:0005380	10.2	FLT4 GATA4 GATA6 GDF1 JAG1 KDR
10	digestive/alimentary	MP:0005381	10.17	FLT4 GATA4 GATA5 GDF1 GJA5 JAG1
11	no phenotypic analysis	MP:0003012	10.16	FLT4 GATA4 GJA5 JAG1 KDR NKX2-5
12	liver/biliary system	MP:0005370	10.13	FLT4 GATA4 GATA6 GDF1 JAG1 KDR
13	immune system	MP:0005387	10.03	CERS1 FLT4 GATA5 GDF1 GJA5 KDR
14	craniofacial	MP:0005382	10.01	GDF1 JAG1 KDR NIPBL NKX2-5 NOTCH1
15	respiratory system	MP:0005388	9.9	GATA4 GATA6 GDF1 GJA5 KDR NKX2-5
16	mortality/aging	MP:0010768	9.86	CERS1 FLT4 GATA4 GATA5 GATA6 GDF1
17	integument	MP:0010771	9.32	FLT4 GATA4 GATA5 JAG1 KDR NKX2-5

Sources

Drugs & Therapeutics for Tetralogy of Fallot

PubMed Health 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 55)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Eplerenone

Approved

Phase 4

107724-20-9

443872

Antihypertensive Agents

Phase 4

diuretics

Phase 4

Hormones

Phase 4

Hormone Antagonists

Phase 4

Diuretics, Potassium Sparing

Phase 4

Mineralocorticoids

Phase 4

Mineralocorticoid Receptor Antagonists

Phase 4

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 2, Phase 3

86347-14-0, 113775-47-6

68602 5311068

Dobutamine

Approved

Phase 3

34368-04-2

36811

Adrenergic alpha-Agonists

Phase 2, Phase 3

Hypnotics and Sedatives

Phase 2, Phase 3

Analgesics, Non-Narcotic

Phase 2, Phase 3

Analgesics

Phase 2, Phase 3

Neurotransmitter Agents

Phase 3

Adrenergic Agonists

Phase 3

Adrenergic Agents

Phase 3

Cardiotonic Agents

Phase 3

Adrenergic beta-Agonists

Phase 3

Sympathomimetics

Phase 3

Protective Agents

Phase 3

Losartan

Approved

Phase 2

114798-26-4

3961

Angiotensin II

Approved, Investigational

Phase 2

68521-88-0, 11128-99-7, 4474-91-3

172198

Sodium citrate

Approved, Investigational

Phase 2

68-04-2

23431961

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 2

437-38-7

3345

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 2

77-92-9

311

Angiotensinogen

Phase 2

16133225

Angiotensin Receptor Antagonists

Phase 2

Angiotensin II Type 1 Receptor Blockers

Phase 2

Giapreza

Phase 2

Calcium, Dietary

Phase 2

Anesthetics, Intravenous

Phase 2

Anesthetics, General

Phase 2

Anticoagulants

Phase 2

Analgesics, Opioid

Phase 2

Citrate

Phase 2

Narcotics

Phase 2

Chelating Agents

Phase 2

Pharmaceutical Solutions

Phase 2

Calcium

Nutraceutical

Phase 2

7440-70-2

271

Propranolol

Approved, Investigational

Phase 1

318-98-9, 525-66-6

62882 4946

Anesthetics

Phase 1

Anti-Arrhythmia Agents

Phase 1

Adrenergic beta-Antagonists

Phase 1

Adrenergic Antagonists

Phase 1

Vasodilator Agents

Phase 1

Parathyroid hormone

Approved, Investigational

9002-64-6

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Tryptophan

Approved, Nutraceutical, Withdrawn

Early Phase 1

73-22-3

6305

Interventional clinical trials:

(show top 50) (show all 70)

#	Name	Status	NCT ID	Phase	Drugs
1	MYOCARDIAL PROTECTION AND CLINICAL OUTCOME IN PATIENTS UNDERGOING TETRALOGY OF FALLOT REPAIR: A RANDOMIZED STUDY OF TWO CARDIOPLEGIC TECHNIQUES	Completed	NCT02646254	Phase 4
2	Eplerenone to Prevent Myocardial Fibrosis in Congenital Heart Disease	Terminated	NCT01971593	Phase 4	Eplerenone
3	Multi-center Trial of Percutaneous Pulmonary Valve Implantation Using Venus-P Valve for Patients With Severe Pulmonary Regurgitation and Native Right Ventricular Outflow Tract After Previous Surgical Repair	Unknown status	NCT02590679	Phase 2, Phase 3
4	The Role of Dexmedetomidine as Myocardial Protector in Pediatric Cardiac Surgery Total Correction of Tetralogy of Fallot	Recruiting	NCT05579964	Phase 2, Phase 3	Dexmedetomidine Hcl 100 Mcg/mL Inj;Placebo
5	Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation	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	Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF).	Completed	NCT00848393	Phase 2	Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
8	Contrast Enhanced Three Dimensional Echocardiographic Quantification of Right Ventricular Volumes in Repaired Congenital Heart Disease	Recruiting	NCT05186415	Phase 1, Phase 2	Sulfur Hexafluoride Lipid Type A Microspheres 25 MG Injection Powder for Suspension [LUMASON]
9	Optical Tissue Identification for Myocardial Architecture (OPTIMA Study)	Active, not recruiting	NCT04017975	Phase 2	Fluorescite
10	A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics	Completed	NCT01915277	Phase 1	Dexmedetomidine
11	The Pharmacokinetics and Pharmacodynamics of Dexmedetomidine in Neonates Following Open Heart Surgery	Completed	NCT00576381	Phase 1	Dexmedetomidine
12	The Pharmacokinetics, Pharmacogenetics, and Pharmacodynamics of Dexmedetomidine In Infants Post-Operative From Cardiac Surgery	Completed	NCT00573066	Phase 1	Dexmedetomidine
13	Mechanistic Clinical Trial of Beta-Blocker Administration For Reactivating Cardiomyocyte Division In Tetrology of Fallot	Not yet recruiting	NCT04713657	Phase 1	Propranolol Hydrochloride;Placebo
14	Cardiac 4D MR Velocity Mapping in Repaired Tetralogy of Fallot Patients: Evaluation of Pulmonary Regurgitant Fraction and Ventricular Volume	Unknown status	NCT02980614
15	Physical Capacity and Activity in Children With Congenital Heart Disease in Chile	Unknown status	NCT03275844
16	Comparison of Mid-term Results of Total Correction of Tetralogy of Fallot Between Preservation of Pulmonary Valve and Trans-annular Patching	Unknown status	NCT03732742
17	The Effect of Different Contouring Techniques on Cardiac Magnetic Resonance Assessment of Right Ventricular Volumes in Repaired Tetraology of Fallot: Implications on Preoperative Thresholds for Intervention	Unknown status	NCT04359940
18	Application of Biocardiac Model in Total Correction of Tetralogy of Fallot	Unknown status	NCT00155428
19	Imaging by 4 DFlow in Patients With Tetralogy of Fallot	Unknown status	NCT03542968
20	Reoxygenation Cardiopulmonary Bypass for Surgical Repair of Pediatric Cyanotic CHD	Unknown status	NCT03568357
21	Comparison of Right Ventricular Outflow Tract Gradient Under Anaesthesia With Post-operative Gradient in Patients Undergoing Tetralogy of Fallot Repair	Unknown status	NCT03234582
22	Haemodynamics and Function of the Atria in Patients With Congenital Heart Defects - Pilot Study by Cardiovascular Magnetic Resonance	Unknown status	NCT02161471
23	Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot.	Unknown status	NCT02186691
24	Evaluation of Right Ventricular Contractility Reserve Function During Dobutamine Stress in Patients Following Surgical Repair of Tetralogy of Fallot	Completed	NCT00557934
25	Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot: Prospective Analysis of Myocardial Benefit Using Cardiac MRI and Echocardiography	Completed	NCT00536432
26	MRI Assessment of Right and Left Ventricular Strain, Associated Function, Volume and ECG Parameters as Predictors of Optimal Timing for Pulmonary Valve Replacement in Patients Post Repair for Tetralogy of Fallot	Completed	NCT00489788
27	Effects of rhBNP in Pediatrics After Corrective Repair of Tetralogy Of Fallot	Completed	NCT01941576		recombinant human brain natriuretic peptide (rhBNP);Placebo (0.9% sodium chloride)
28	Tissue Doppler Imaging - A Promising Technique To Assess Myocardial Function In Adult Fallot Patients	Completed	NCT03835494
29	Effects of Changes in Fluid Status on Right Ventricular Volumes and Function	Completed	NCT02967315
30	Quantification of the Myocardial Microcirculation by Contrast Echocardiography In Adult Patients With Congenital Heart Disease	Completed	NCT00412685
31	Influence of Different Types of Exercise Training on Selected Cardiovascular Parameters in Adult Individuals With Corrected Tetralogy of Fallot	Completed	NCT02643810
32	Retrospective Review of Anesthetic Considerations for Pulmonary Artery Rehabilitation	Completed	NCT02586740
33	MRI Assessment of Right Ventricular Function in Patients After Repair of Tetralogy of Fallot	Completed	NCT00722826
34	Randomized Trial of Pulmonary Valve Replacement in Tetralogy of Fallot	Completed	NCT00112320
35	Early Revalvulation After Fallot Repair Improves Clinical Outcome	Completed	NCT02534792
36	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
37	Non-invasive Imaging and Exercise Tolerance Tests in Post-repair Tetralogy of Fallot - Intervention and Course in Patients Over 8 Years Old	Completed	NCT00266188
38	Reproduction and Survival After Cardiac Defect Repair	Completed	NCT00005190
39	Assessment of Right Ventricular Volume Using the Ventripoint Medical System in Patients With Tetralogy of Fallott Following Repair; A Comparison Study to cMRI	Completed	NCT01419756
40	Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect	Completed	NCT02861963
41	Native Outflow Tract Transcatheter Pulmonary Valve Research Clinical Study	Completed	NCT01762124
42	Pulmonary Artery Repair With Covered Stents	Completed	NCT01824160
43	Interstitial Myocardial Fibrosis in Repaired Tetralogy of Fallot: Assessment by Molecular and Imaging Biomarkers and Association With Adverse Events ( Myocardial FIbrosis in Repaired Tetralogy of FAllot- FIFA Study)	Recruiting	NCT04737135
44	Impact of NAVA Ventilation on Brain Oxygenation and Perfusion in Children With Congenital Heart Disease	Recruiting	NCT04581668
45	Early Versus Later Re-valving in Tetralogy of Fallot With Free Pulmonary Regurgitation - Combined Cross-sectional and Prospective, Multi-centre, Randomized, Parallel-group Clinical Trial	Recruiting	NCT04084132
46	The International Stress Echo Study in Ischemic and Non-ischemic Heart Disease	Recruiting	NCT03049995
47	Do Cerebral and Renal Saturations Measured With Near-infrared Spectroscopy Correlate With Echocardiographic Markers of Perfusion and Cardiac Performance in Congenital Heart Disease?	Recruiting	NCT04106479
48	French National Registry of Patients With Tetralogy of Fallot and Implantable Cardioverter Defibrillator	Recruiting	NCT03837574
49	Prospective Evaluation of Programmed Ventricular Stimulation Before Pulmonary Valve Replacement in Patients With Tetralogy of Fallot	Recruiting	NCT04205461
50	Multicenter Italian Registry From the Italian Pediatric Cardiology Society (SICP) Working Group (WG) on CMR/CT for the Repaired Tetralogy of Fallot	Recruiting	NCT05288894

Search NIH Clinical Center for Tetralogy of Fallot

Cochrane evidence based reviews: tetralogy of fallot

Sources

Genetic Tests for Tetralogy of Fallot

Genetic tests related to Tetralogy of Fallot:

#	Genetic test	Affiliating Genes
1	Tetralogy of Fallot ²⁸	GATA4 GATA6 JAG1 NKX2-5 TBX1 ZFPM2

Sources

Anatomical Context for Tetralogy of Fallot

Organs/tissues related to Tetralogy of Fallot:

MalaCards : Heart, Brain, Skin, Lung, Bone Marrow, Endothelial, Trachea

ODiseA: Heart

Sources

Publications for Tetralogy of Fallot

Articles related to Tetralogy of Fallot:

(show top 50) (show all 9707)

#	Title	Authors	PMID	Year
1	New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. ⁶² ⁵⁷ ⁵	De Luca A...Dallapiccola B	20807224	2011
2	Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease. ⁶² ⁵⁷ ⁵	Peng T...Li X	21110066	2010
3	Identification of GATA6 sequence variants in patients with congenital heart defects. ⁶² ⁵⁷ ⁵	Maitra M...Garg V	20581743	2010
4	A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. ⁶² ⁵⁷ ⁵	Lin X...Chen YH	20631719	2010
5	Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. ⁶² ⁵⁷ ⁵	Rauch R...Rauch A	19948535	2010
6	De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. ⁶² ⁵⁷ ⁵	Greenway SC...Seidman CE	19597493	2009
7	GATA4 mutations in 486 Chinese patients with congenital heart disease. ⁶² ⁵⁷ ⁵	Zhang W...Li Z	18672102	2008
8	GATA4 sequence variants in patients with congenital heart disease. ⁶² ⁵⁷ ⁵	Tomita-Mitchell A...Goldmuntz E	18055909	2007
9	Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. ⁶² ⁵⁷ ⁵	Pizzuti A...Dallapiccola B	14517948	2003
10	NKX2.5 mutations in patients with tetralogy of fallot. ⁶² ⁵⁷ ⁵	Goldmuntz E...Benson DW	11714651	2001
11	Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. ⁶² ⁵⁷ ⁵	Eldadah ZA...Dietz HC	11152664	2001
12	Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. ⁶² ⁵⁷ ⁵	Benson DW...Kugler JD	10587520	1999
13	Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects. ⁶² ⁵	Kruszka P...Muenke M	28592524	2017
14	Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. ⁶² ⁵	Stallmeyer B...Schulze-Bahr E	20456451	2010
15	Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ⁶² ⁵	Bauer RC...Spinner NB	20437614	2010
16	Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. ⁶² ⁵	Karkera JD...Muenke M	17924340	2007
17	Low expression VEGF haplotype increases the risk for tetralogy of Fallot: a family based association study. ⁶² ⁵⁷	Lambrechts D...Carmeliet P	15937089	2005
18	NKX2.5 mutations in patients with congenital heart disease. ⁶² ⁵	McElhinney DB...Goldmuntz E	14607454	2003
19	Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage. ⁶² ⁵	Lu F...Spinner NB	12649809	2003
20	Chromosome abnormalities in congenital heart disease. ⁶² ⁵⁷	Johnson MC...Watson MS	9188669	1997
21	Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion. ⁶² ⁵⁷	Digilio MC...Dallapiccola B	9132487	1997
22	Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary valve syndrome. ⁶² ⁵⁷	Hirt-Armon K...Holmes LB	8923932	1996
23	Tetralogy of Fallot in three siblings: a familial study and review of the literature. ⁶² ⁵⁷	Pacileo G...Calabro R	1425789	1992
24	Tetralogy of Fallot in three sibs. ⁶² ⁵⁷	Pankau R...Stoffregen R	2260602	1990
25	An autosomal dominant syndrome of characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot. ⁶² ⁵⁷	Jones MC...Waldman JD	4050848	1985
26	Tetralogy of Fallot with pulmonary atresia in siblings. ⁶² ⁵⁷	Der Kaloustian VM...Kutayli F	4003436	1985
27	Tetralogy of Fallot with right aortic arch in three successive generations. ⁶² ⁵⁷	Friedberg DZ	4834778	1974
28	Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects. ⁵	England J...Loughna S	28359939	2017
29	Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. ⁵	Preuss C...Andelfinger G	27760138	2016
30	Analysis of protein-coding genetic variation in 60,706 humans. ⁵	Lek M...Exome Aggregation Consortium	27535533	2016
31	Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. ⁵	Longoni M...Donahoe PK	24702427	2015
32	Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. ⁵	Bashamboo A...McElreavey K	24549039	2014
33	Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. ⁵⁷	Soemedi R...Keavney BD	22939634	2012
34	Spectrum of heart disease associated with murine and human GATA4 mutation. ⁵	Rajagopal SK...Pu WT	17643447	2007
35	Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. ⁵	Dentice M...Macchia PE	16418214	2006
36	Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system. ⁵	Inga A...Resnick MA	15917268	2005
37	Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease. ⁵	Kasahara H...Izumo S	10903346	2000
38	A family study of Fallot's tetralogy. ⁵⁷	Boon AR...Roberts DF	5065286	1972
39	A family study of Fallot's tetrad. ⁵⁷	PITT DB	13943847	1962
40	Assessing associations between residential proximity to greenspace and birth defects in the National Birth Defects Prevention Study. ⁶²	Weber KA...National Birth Defects Prevention Study	36356662	2023
41	Detection rates of a national fetal anomaly screening programme: A national cohort study. ⁶²	Aldridge N...Stevens S	36054171	2023
42	Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot. ⁶²	Alrayes N...Al-Aama JY	36162527	2023
43	An exceptional survival in an unoperated tetralogy of Fallot in a 66-year-old man: A case report. ⁶²	Rayamajhi S...Mahaseth A	36281282	2022
44	Routine Perioperative Esmolol After Infant Tetralogy of Fallot Repair: Single-Center Retrospective Study of Hemodynamics. ⁶²	Affolter JT...Fraser CD	36200768	2022
45	The effect of Del Nido versus custodiol cardioplegia on clinical outcomes and troponin-I changes among pediatrics with tetralogy of fallot undergoing cardiopulmonary bypass. ⁶²	Gholampour Dehaki M...Heidarynia S	36464918	2022
46	Speckle-Tracking Analysis in Fetuses With Tetralogy of Fallot: Evaluation of Right and Left Ventricular Contractility and Left Ventricular Function. ⁶²	DeVore GR...Sklansky M	35397130	2022
47	Anemia after Pediatric Congenital Heart Surgery. ⁶²	Jutras C...Pont-Thibodeau GD	36388078	2022
48	Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. ⁶²	Yao A...JNCVD-ACHD investigators	35995687	2022
49	A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. ⁶²	Bhattarai V...Chettry S	36204404	2022
50	Ventricular Tachycardia Ablation in Adult Congenital Heart Disease. ⁶²	Wallet J...Zeppenfeld K	36396188	2022

Sources

Genes for Tetralogy of Fallot

Genes related to Tetralogy of Fallot (21 elite genes):

(show top 50) (show all 184)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1701.33	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	11152664 12649809 20437614 (more) 21893051
2	GATA4	GATA Binding Protein 4	Protein Coding	1676.97	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	17643447 18672102 21110066 (more) 24000169
3	NKX2-5	NK2 Homeobox 5	Protein Coding	1362.59	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	10587520 10903346 11714651 (more) 14607454 15917268 16418214 19948535 20456451 20807224 29045289
4	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1350.61	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	14517948 20807224 24549039 (more) 24702427
5	GATA6	GATA Binding Protein 6	Protein Coding	1350.21	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	20581743 20631719
6	TBX1	T-Box Transcription Factor 1	Protein Coding	1066.58	Molecular basis known ⁵⁷ Pathogenic ⁵ Genetic Tests ²⁸ Likely pathogenic ⁵ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	19948535 20937753
7	GDF1	Growth Differentiation Factor 1	Protein Coding	748.81	Pathogenic ⁵ Causative variation ⁷³ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	17924340
8	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
9	NOTCH1	Notch Receptor 1	Protein Coding	414.56	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	27760138 19597493
10	CERS1	Ceramide Synthase 1	Protein Coding	405.9	Pathogenic ⁵ DISEASES inferred ¹⁴	17924340
11	NIPBL	NIPBL Cohesin Loading Factor	Protein Coding	405.13	Pathogenic ⁵ DISEASES inferred ¹⁴
12	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	400	Pathogenic ⁵
13	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	400	Pathogenic ⁵
14	RET	Ret Proto-Oncogene	Protein Coding	400	Pathogenic ⁵
15	ZFPM2-AS1	ZFPM2 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	14517948 20807224 24549039
16	GATA5	GATA Binding Protein 5	Protein Coding	374.38	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	23289003
17	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	372.36	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	30232381
18	GJA5	Gap Junction Protein Alpha 5	Protein Coding	39.67	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	22713807
19	KDR	Kinase Insert Domain Receptor	Protein Coding	37.58	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	34113005
20	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	31.42	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴
21	NKX2-6	NK2 Homeobox 6	Protein Coding	29.12	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	25195019
22	ROBO1	Roundabout Guidance Receptor 1	Protein Coding	36.84	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	28592524
23	TPM1	Tropomyosin 1	Protein Coding	29.21	Likely pathogenic ⁵ DISEASES inferred ¹⁴	28359939
24	EPHB4	EPH Receptor B4	Protein Coding	28.38	Likely pathogenic ⁵ DISEASES inferred ¹⁴	27760138 19597493
25	TBX5	T-Box Transcription Factor 5	Protein Coding	16.49	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	TBX20	T-Box Transcription Factor 20	Protein Coding	16.04	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	HIRA	Histone Cell Cycle Regulator	Protein Coding	15.06	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	14.97	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	GJA1	Gap Junction Protein Alpha 1	Protein Coding	14.5	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	NPPB	Natriuretic Peptide B	Protein Coding	14.32	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	ISL1	ISL LIM Homeobox 1	Protein Coding	14.27	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
32	HAND1	Heart And Neural Crest Derivatives Expressed 1	Protein Coding	14.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	14.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
34	PITX2	Paired Like Homeodomain 2	Protein Coding	13.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
35	BVES	Blood Vessel Epicardial Substance	Protein Coding	13.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	13.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	SNX8	Sorting Nexin 8	Protein Coding	13.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	NPPA	Natriuretic Peptide A	Protein Coding	13.66	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	13.62	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	13.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	13.54	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	FBN1	Fibrillin 1	Protein Coding	13.48	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
43	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	13.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	TNNT2	Troponin T2, Cardiac Type	Protein Coding	13.21	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	13.13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
46	CRP	C-Reactive Protein	Protein Coding	13.05	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	EDN1	Endothelin 1	Protein Coding	12.99	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	REN	Renin	Protein Coding	12.89	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	SMAD4	SMAD Family Member 4	Protein Coding	12.84	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
50	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	12.75	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Tetralogy of Fallot

ClinVar genetic disease variations for Tetralogy of Fallot:

⁵ (show top 50) (show all 79)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	NOTCH1	NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)	SNV	Pathogenic	221999	rs774966208	GRCh37: 9:139417466-139417466 GRCh38: 9:136523014-136523014
2	overlap with 22 genes	GRCh37/hg19 8p23.1(chr8:8403375-11805960)	CN LOSS	Pathogenic	625634		GRCh37: 8:8403375-11805960 GRCh38:
3	overlap with 39 genes	GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)	CN LOSS	Pathogenic	625669		GRCh37: 8:194617-7787444 GRCh38:
4	JAG1	NM_000214.3(JAG1):c.228del (p.Val77fs)	DEL	Pathogenic	930690	rs2067506937	GRCh37: 20:10653508-10653508 GRCh38: 20:10672860-10672860
5	GATA6	NM_005257.6(GATA6):c.23G>A (p.Trp8Ter)	SNV	Pathogenic	977802	rs2033033528	GRCh37: 18:19751128-19751128 GRCh38: 18:22171167-22171167
6	NKX2-5	NM_004387.4(NKX2-5):c.439del (p.Gln147fs)	DEL	Pathogenic	982415	rs1761360431	GRCh37: 5:172660108-172660108 GRCh38: 5:173233105-173233105
7	JAG1	NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs)	DUP	Pathogenic	1032929	rs2067268275	GRCh37: 20:10621806-10621807 GRCh38: 20:10641158-10641159
8	MT-CO2	NC_012920.1(MT-CO2):m.7639del	DEL	Pathogenic	587691	rs1569484164	GRCh37: MT:7638-7638 GRCh38: MT:7638-7638
9	MT-CO1	NC_012920.1(MT-CO1):m.6902del	DEL	Pathogenic	590294	rs1569484122	GRCh37: MT:6900-6900 GRCh38: MT:6900-6900
10	MT-CO1	NC_012920.1(MT-CO1):m.5954del	DEL	Pathogenic	590893	rs1569484042	GRCh37: MT:5954-5954 GRCh38: MT:5954-5954
11	MT-CO1	NC_012920.1(MT-CO1):m.6941del	DEL	Pathogenic	587690	rs1569484126	GRCh37: MT:6939-6939 GRCh38: MT:6939-6939
12	MT-CO1	NC_012920.1(MT-CO1):m.6927del	DEL	Pathogenic	590295	rs1569484124	GRCh37: MT:6925-6925 GRCh38: MT:6925-6925
13	MT-CO3	NC_012920.1:m.9429_9430insCCC	INSERT	Pathogenic	599026	rs1569484299	GRCh37: MT:9429-9430 GRCh38: MT:9429-9430
14	MT-CO3	NC_012920.1:m.9273_9274insATC	INSERT	Pathogenic	599028	rs1569484288	GRCh37: MT:9273-9274 GRCh38: MT:9273-9274
15	GATA4	NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	SNV	Pathogenic	30099	rs387906769	GRCh37: 8:11566308-11566308 GRCh38: 8:11708799-11708799
16	GATA6	NM_005257.6(GATA6):c.592C>G (p.Leu198Val)	SNV	Pathogenic	30208	rs387906814	GRCh37: 18:19751697-19751697 GRCh38: 18:22171736-22171736
17	GATA6	NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)	SNV	Pathogenic	30210	rs387906816	GRCh37: 18:19751656-19751656 GRCh38: 18:22171695-22171695
18	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	SNV	Pathogenic	39518	rs187043152	GRCh37: 8:106813942-106813942 GRCh38: 8:105801714-105801714
19	NIPBL	NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)	DEL	Pathogenic	523556	rs1554034812	GRCh37: 5:37059040-37059040 GRCh38: 5:37058938-37058938
20	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)	SNV	Pathogenic	6127	rs28374544	GRCh37: 8:106814279-106814279 GRCh38: 8:105802051-105802051
21	ZFPM2	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	SNV	Pathogenic	6128	rs121908601	GRCh37: 8:106431420-106431420 GRCh38: 8:105419192-105419192
22	JAG1	NM_000214.3(JAG1):c.821G>A (p.Gly274Asp)	SNV	Pathogenic	7624	rs28939668	GRCh37: 20:10633181-10633181 GRCh38: 20:10652533-10652533
23	MT-CO3	NC_012920.1:m.9441_9442insTTT	INSERT	Pathogenic	599027	rs1569484301	GRCh37: MT:9441-9442 GRCh38: MT:9441-9442
24	JAG1	NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	MICROSAT	Pathogenic	177941	rs727504412	GRCh37: 20:10625893-10625896 GRCh38: 20:10645245-10645248
25	GATA4	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	SNV	Pathogenic	30103	rs115099192	GRCh37: 8:11615875-11615875 GRCh38: 8:11758366-11758366
26	CERS1, GDF1	NM_001492.6(GDF1):c.485G>A (p.Gly162Asp)	SNV	Pathogenic	6749	rs121434424	GRCh37: 19:18980040-18980040 GRCh38: 19:18869231-18869231
27	JAG1	NM_000214.3(JAG1):c.551G>A (p.Arg184His)	SNV	Pathogenic	7620	rs121918351	GRCh37: 20:10639259-10639259 GRCh38: 20:10658611-10658611
28	NKX2-5	NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)	SNV	Pathogenic	9008	rs28936670	GRCh37: 5:172662014-172662014 GRCh38: 5:173235011-173235011
29	NKX2-5	NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)	SNV	Pathogenic	9011	rs104893902	GRCh37: 5:172659891-172659891 GRCh38: 5:173232888-173232888
30	GATA4	NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)	MICROSAT	Pathogenic	30104	rs1182566703	GRCh37: 8:11566175-11566176 GRCh38: 8:11708666-11708667
31	RET	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	SNV	Pathogenic	13919	rs74799832	GRCh37: 10:43617416-43617416 GRCh38: 10:43121968-43121968
32	NKX2-5	NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys)	SNV	Pathogenic	9010	rs104893905	GRCh37: 5:172659901-172659901 GRCh38: 5:173232898-173232898
33	TBX1	NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	DUP	Pathogenic	504072	rs746335599	GRCh37: 22:19754288-19754289 GRCh38: 22:19766765-19766766
34	TPM1	NM_001018005.2(TPM1):c.114+2T>C	SNV	Likely Pathogenic	370039	rs1114167357	GRCh37: 15:63335144-63335144 GRCh38: 15:63042945-63042945
35	ROBO1	NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)	SNV	Likely Pathogenic	995977	rs1431830142	GRCh37: 3:78763664-78763664 GRCh38: 3:78714514-78714514
36	JAG1	NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)	SNV	Likely Pathogenic	522881	rs769531968	GRCh37: 20:10624455-10624455 GRCh38: 20:10643807-10643807
37	TBX1	NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)	SNV	Likely Pathogenic	488618	rs1445910672	GRCh37: 22:19748778-19748778 GRCh38: 22:19761255-19761255
38	MT-CO1	NC_012920.1:m.6887_6888insGGG	INSERT	Likely Pathogenic	590898	rs1569484120	GRCh37: MT:6887-6888 GRCh38: MT:6887-6888
39	ROBO1	GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1	CN LOSS	Likely Pathogenic	1098921		GRCh37: 3:78653578-79071345 GRCh38:
40	ROBO1	NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)	SNV	Likely Pathogenic	995981	rs1017845770	GRCh37: 3:78987895-78987895 GRCh38: 3:78938745-78938745
41	EPHB4	NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)	SNV	Likely Pathogenic	222000	rs1057515420	GRCh37: 7:100417496-100417496 GRCh38: 7:100819874-100819874
42	TBX1	NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)	SNV	Likely Pathogenic	973222	rs1936727304	GRCh37: 22:19750829-19750829 GRCh38: 22:19763306-19763306
43	TBX1	NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	SNV	Uncertain Significance	992543	rs1452987245	GRCh37: 22:19753948-19753948 GRCh38: 22:19766425-19766425
44	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)	SNV	Uncertain Significance	1030220	rs1290587796	GRCh37: 8:106813356-106813356 GRCh38: 8:105801128-105801128
45	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2201G>A (p.Arg734His)	SNV	Uncertain Significance	1030221	rs750762877	GRCh37: 8:106814511-106814511 GRCh38: 8:105802283-105802283
46	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)	SNV	Uncertain Significance	931052	rs1814052830	GRCh37: 8:106814548-106814548 GRCh38: 8:105802320-105802320
47	JAG1	NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)	SNV	Uncertain Significance	931055	rs1334024757	GRCh37: 20:10620547-10620547 GRCh38: 20:10639899-10639899
48	ZFPM2-AS1, ZFPM2	NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)	DUP	Uncertain Significance	931432	rs1814103683	GRCh37: 8:106815578-106815579 GRCh38: 8:105803350-105803351
49	JAG1	NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)	SNV	Uncertain Significance	931651	rs2067321488	GRCh37: 20:10628715-10628715 GRCh38: 20:10648067-10648067
50	JAG1	NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)	SNV	Uncertain Significance	931652	rs2067506326	GRCh37: 20:10653447-10653447 GRCh38: 20:10672799-10672799

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

⁷³ (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

Copy number variations for Tetralogy of Fallot from CNVD:

⁶ (show top 50) (show all 82)

#	CNVD ID	Chromosome	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	KICS2	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	SPART	Tetralogy of Fallot
19	76410	13	31086497	35813387	Deletion		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		Tetralogy of Fallot
24	105835	16	83066869	83082922	Deletion	MEAK7	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		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	HDHD5	Tetralogy of Fallot

Sources

Expression for Tetralogy of Fallot

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

Sources

Pathways for Tetralogy of Fallot

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.86	NOTCH1 NKX2-5 KDR GATA4
2	TP53 Regulates Metabolic Genes ⁶⁶	11.64	MT-CO3 MT-CO2 MT-CO1
3	Angiogenesis (CST) ³	11.62	NOTCH1 KDR JAG1 FLT4
4	VEGF Pathway (Tocris) ⁷⁰ Show member pathways Sorafenib Pharmacodynamics ⁶⁰	11.58	RET KDR FLT4
5	Endoderm differentiation ⁷⁴	11.52	NOTCH1 GATA6 GATA4
6	Neurogenesis regulation in the olfactory epithelium ⁷⁴	11.41	RET NOTCH1 JAG1
7	Cardiac progenitor differentiation ⁷⁴	11.28	NOTCH1 NKX2-5 KDR GATA4
8	Neovascularisation processes ⁷⁴	11.11	FLT4 JAG1 KDR
9	Notch-mediated HES/HEY network ⁶¹	11.11	NOTCH1 KDR GATA6 GATA4
10	VEGF ligand-receptor interactions ⁶⁶ Show member pathways VEGF binds to VEGFR leading to receptor dimerization ⁶⁶	10.76	KDR FLT4
11	Amplification and expansion of oncogenic pathways as metastatic traits ⁷⁴	10.75	NOTCH1 JAG1
12	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.71	NKX2-5 GATA4
13	Heart development ⁷⁴	10.69	TBX1 NOTCH1 NKX2-5 GATA6 GATA4
14	NOTCH1 regulation of endothelial cell calcification ⁷⁴	10.67	NOTCH1 JAG1 GJA5
15	HOP Signaling ⁶⁴	10.23	NKX2-5 GATA4
16	Regorafenib Pathway, Pharmacodynamics ⁶⁰	10.03	RET KDR FLT4

Sources

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	mitochondrial respiratory chain complex IV	GO:0005751	9.43	MT-CO3 MT-CO2 MT-CO1
2	respiratory chain complex IV	GO:0045277	9.1	MT-CO3 MT-CO2 MT-CO1

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

(show all 44)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of transcription by RNA polymerase II	GO:0045944	10.6	ZFPM2 TBX1 NOTCH1 NKX2-5 NIPBL JAG1
2	positive regulation of DNA-templated transcription	GO:0045893	10.44	GATA4 GATA5 GATA6 NKX2-5 NOTCH1 RET
3	cell differentiation	GO:0030154	10.32	GATA4 GATA5 GATA6 KDR NKX2-5 NOTCH1
4	angiogenesis	GO:0001525	10.3	FLT4 GJA5 JAG1 KDR NOTCH1 TBX1
5	positive regulation of MAPK cascade	GO:0043410	10.28	TBX1 RET KDR FLT4
6	cell fate commitment	GO:0045165	10.18	KDR GATA6 GATA5 GATA4
7	heart looping	GO:0001947	10.17	NOTCH1 NKX2-5 GATA4
8	vasculogenesis	GO:0001570	10.17	ZFPM2 NKX2-5 KDR
9	epithelial cell proliferation	GO:0050673	10.16	NOTCH1 NKX2-5 KDR
10	heart morphogenesis	GO:0003007	10.15	TBX1 NKX2-5 NIPBL
11	cellular respiration	GO:0045333	10.14	MT-CO3 MT-CO2 MT-CO1
12	positive regulation of epithelial cell proliferation	GO:0050679	10.13	TBX1 NOTCH1 NKX2-5 KDR
13	cellular response to vascular endothelial growth factor stimulus	GO:0035924	10.12	FLT4 KDR NOTCH1
14	positive regulation of cardiac muscle cell proliferation	GO:0060045	10.1	ZFPM2 NOTCH1 GATA6
15	positive regulation of BMP signaling pathway	GO:0030513	10.1	NOTCH1 KDR GATA6 GATA4
16	cardiac muscle cell proliferation	GO:0060038	10.09	NOTCH1 NKX2-5 GATA6
17	mitochondrial electron transport, cytochrome c to oxygen	GO:0006123	10.09	MT-CO3 MT-CO2 MT-CO1
18	ventricular septum morphogenesis	GO:0060412	10.08	NKX2-5 NOTCH1 ROBO1 ZFPM2
19	pulmonary valve morphogenesis	GO:0003184	10.04	ROBO1 NOTCH1 JAG1
20	lymph vessel development	GO:0001945	10.01	TBX1 KDR FLT4
21	cardiac muscle cell differentiation	GO:0055007	10	NKX2-5 GATA6 GATA4
22	intestinal epithelial cell differentiation	GO:0060575	10	GATA6 GATA5 GATA4
23	heart development	GO:0007507	10	GATA4 GATA5 GJA5 NIPBL NKX2-5 NOTCH1
24	coronary artery morphogenesis	GO:0060982	9.99	TBX1 NOTCH1
25	neuroendocrine cell differentiation	GO:0061101	9.98	NOTCH1 JAG1
26	endothelium development	GO:0003158	9.98	GJA5 KDR
27	anatomical structure morphogenesis	GO:0009653	9.97	ZFPM2 GATA6 GATA5 GATA4
28	outflow tract morphogenesis	GO:0003151	9.97	TBX1 NOTCH1 NKX2-5 NIPBL GJA5
29	ear morphogenesis	GO:0042471	9.96	TBX1 NIPBL
30	endocardium development	GO:0003157	9.96	NOTCH1 KDR
31	inhibition of neuroepithelial cell differentiation	GO:0002085	9.96	NOTCH1 JAG1
32	positive regulation of Notch signaling pathway involved in heart induction	GO:0035481	9.95	ROBO1 GATA5
33	distal tubule development	GO:0072017	9.94	NOTCH1 JAG1
34	positive regulation of cardiac epithelial to mesenchymal transition	GO:0062043	9.93	NOTCH1 JAG1
35	positive regulation of cardioblast differentiation	GO:0051891	9.93	NKX2-5 GATA6 GATA4
36	cardiac ventricle morphogenesis	GO:0003208	9.91	NOTCH1 NKX2-5 GATA4
37	right ventricular cardiac muscle tissue morphogenesis	GO:0003221	9.9	ZFPM2 NKX2-5
38	outflow tract septum morphogenesis	GO:0003148	9.85	ZFPM2 TBX1 ROBO1 NKX2-5 GATA6
39	multicellular organism development	GO:0007275	9.8	RET NOTCH1 KDR JAG1 FLT4
40	cardiac muscle tissue development	GO:0048738	9.77	ZFPM2 NKX2-5 GATA6 GATA5
41	animal organ development	GO:0048513	9.73	ZFPM2 JAG1 GATA6 GATA4
42	system development	GO:0048731	9.72	ZFPM2 GATA6 GATA4
43	atrioventricular node development	GO:0003162	9.56	NOTCH1 NKX2-5 GATA6 GATA4
44	aortic valve morphogenesis	GO:0003180	9.4	ROBO1 NOTCH1 NKX2-5 JAG1 GATA5 GATA4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.73	RET KDR FLT4
2	cis-regulatory region sequence-specific DNA binding	GO:0000987	9.5	GATA6 GATA5 GATA4
3	vascular endothelial growth factor receptor activity	GO:0005021	9.46	KDR FLT4
4	NFAT protein binding	GO:0051525	9.26	GATA6 GATA4
5	cytochrome-c oxidase activity	GO:0004129	9.1	MT-CO3 MT-CO2 MT-CO1