TOF
MCID: TTR001
MIFTS: 76

Tetralogy of Fallot (TOF) malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Tetralogy of Fallot

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Tetralogy of fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). tetralogy of fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). the cause of this condition is unknown. treatment involves surgery to repair the heart defects. sometimes more than one surgery is needed.  last updated: 3/15/2012

MalaCards: Tetralogy of Fallot, also known as fallot tetralogy, is related to atrioventricular septal defect and ventricular septal defect, and has symptoms including undescended/ectopic testes/cryptorchidia/unfixed testes, tetralogy of fallot/trilogy of fallot and branchial/posterior auricular/preauricular/cheek cysts/fistulae. An important gene associated with Tetralogy of Fallot is DGCR (DiGeorge syndrome chromosome region), and among its related pathways are HOP Signaling and Wnt / Hedgehog / Notch. The compounds nitric oxide and zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are limbs/digits/tail and liver/biliary system.

Wikipedia:63 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:46 187500

Aliases & Classifications for Tetralogy of Fallot

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 22GTR, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tetralogy of fallot 8 9 42 46 10 48
fallot tetralogy 42 22
atresia, dextraposition of aorta, and hypertrophy of right ventricle 8
ventricular septal defect with pulmonary stenosis 8
tetralogy of fallot, unspecified 8
tetralogy of fallot nos 8
tof 42


External Ids:

Disease Ontology8 DOID:6419
ICD9CM27 745.2
NCIt39 C84505
MeSH34 D013771
OMIM46 187500
ICD10 via Orphanet26 Q21.3
SNOMED-CT via Orphanet57 86299006
UMLS via Orphanet61 C0039685
MESH via Orphanet35 D013771
ICD1025 Q21.3

Related Diseases for Tetralogy of Fallot

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Tetralogy of Fallot via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 228)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect31.3NKX2-5, GATA4
2ventricular septal defect31.3NPPB, JAG1, GATA4, NKX2-5
3digeorge syndrome30.9TBX1, CTHM, DGCR, UFD1L
4hypertension30.6NPPB
5patent ductus arteriosus30.6TBX1
6congenital heart defect30.5NPPB, GATA4, NKX2-5
7mckusick-kaufman syndrome30.4MKKS
8ebstein anomaly30.2TBX1
9heart septal defect30.2NKX2-5, GATA4
10holt-oram syndrome30.2TBX1
11polydactyly30.2MKKS, BBS2, BBS7
12noonan syndrome30.2NKX2-5, GATA4, NPPB
13velocardiofacial syndrome29.7UFD1L, TBX1
14double outlet right ventricle10.8
15right bundle branch block10.7
16endocarditis10.6
17dextrocardia10.5
18pulmonary valve stenosis10.5
19pulmonary valve insufficiency10.5
20left bundle branch hemiblock10.5
21image syndrome10.5
22tracheal stenosis10.4
23cerebritis10.4
24situs inversus10.4
25hypertrophic cardiomyopathy10.4
26subacute bacterial endocarditis10.4
27duodenal atresia tetralogy of fallot10.4
28tetralogy of fallot and glaucoma10.4
29hypertelorism and tetralogy of fallot10.4
30purpura10.4
31complete atrioventricular canal - fallot tetralogy10.3
32breast cancer10.3
33goldenhar syndrome10.3
34coronary aneurysm10.3
35discrete subaortic stenosis10.3
36microcephaly10.3
37hypertensive heart disease10.3
38constrictive pericarditis10.3
39aortic aneurysm10.3
40cervicitis10.3
41hydrocephalus10.3
42lipoma10.3
43long qt syndrome10.3
44pericarditis10.3
45pheochromocytoma10.3
46german syndrome10.3
47single median maxillary central incisor10.3
48alcohol abuse10.2
49ischemic retinopathy10.1
50central retinal artery occlusion10.1

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



Diseases related to tetralogy of fallot

Clinical Features for Tetralogy of Fallot

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

187500

Symptoms:

48 (show all 13)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • tetralogy of fallot/trilogy of fallot
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • long/large/bulbous nose
  • short hand/brachydactyly
  • clinodactyly of fifth finger
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • dolichocephaly/scaphocephaly
  • flat supraorbital ridge
  • proptosis/exophthalmos
  • thin/retracted lips
  • broad forehead

Drugs & Therapeutics for Tetralogy of Fallot

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Tetralogy of Fallot

Drug clinical trials:

Search ClinicalTrials for Tetralogy of Fallot

Search NIH Clinical Center for Tetralogy of Fallot

Search CenterWatch for Tetralogy of Fallot

Genetic Tests for Tetralogy of Fallot

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22GTR
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Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot22

Anatomical Context for Tetralogy of Fallot

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32MalaCards
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MalaCards organs/tissues related to Tetralogy of Fallot:

32
Heart, Lung, Skin, Testes, Brain, Trachea, Bone, Lymph node, Kidney, Placenta

Animal Models for Tetralogy of Fallot or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Tetralogy of Fallot:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.4BBS7, BBS2, CITED2, MKKS, VANGL2
2MP:000537010.4BBS2, JAG1, GATA4, GATA6, GDF1, ZFPM2
3MP:000536910.4GATA4, JAG1, HAND1, NPPB, GATA6, GATA5
4MP:000539010.4JAG1, GATA4, GATA5, CITED2, TBX1, VANGL2
5MP:000537910.4BBS2, JAG1, GATA4, GATA5, CITED2, TBX1
6MP:000538010.4GATA4, JAG1, HAND1, BBS7, GATA6, CITED2
7MP:000538210.4JAG1, HAND1, FEZF2, BBS7, CITED2, NKX2-5
8MP:000538110.3BBS7, BBS2, JAG1, GATA4, GATA5, CITED2
9MP:000538810.3FEZF2, GATA4, GATA6, CITED2, NKX2-5, TBX1
10MP:000536710.3BBS2, JAG1, GATA5, CITED2, VANGL2, GDF1
11MP:000539410.3BBS2, FEZF2, MKKS
12MP:000538410.3GATA4, JAG1, HAND1, FEZF2, GATA6, GATA5
13MP:000287310.3BBS2, UFD1L, HAND1, JAG1, GATA4, GATA6
14MP:000539710.2JAG1, GATA4, GATA6, CITED2, NKX2-5, TBX1
15MP:000301210.2JAG1, GATA4, NKX2-5, VANGL2, ZFPM2, GJA5
16MP:000537810.2GATA4, JAG1, HAND1, FEZF2, BBS2, GATA6
17MP:000537610.2GATA6, GATA4, JAG1, HAND1, BBS7, GATA5
18MP:000363110.2BBS7, BBS2, FEZF2, HAND1, JAG1, GATA4
19MP:000538510.2GJA5, BBS7, NPPB, HAND1, JAG1, GATA4
20MP:001076810.1GATA6, GATA4, JAG1, HAND1, FEZF2, BBS7
21MP:000538910.0BBS2, GATA4, GATA5, MKKS, VANGL2, ZFPM2
22MP:00053919.9BBS2, JAG1, CITED2, MKKS, VANGL2, BBS7

Publications for Tetralogy of Fallot

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50PubMed
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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 733)
idTitleAuthorsYear
1
Valve-sparing tetralogy of Fallot repair with intraoperative dilation of the pulmonary valve. (23179422)
2013
2
Dobutamine stress MRI in repaired tetralogy of Fallot with chronic pulmonary regurgitation: a comparison with healthy volunteers. (22154014)
2013
3
Timing of complete repair of non-ductal-dependent tetralogy of Fallot and short-term postoperative outcomes, a multicenter analysis. (23879934)
2013
4
Restrictive right ventricular physiology after tetralogy of Fallot repair is associated with fibrosis of the right ventricular outflow tract visualized on cardiac magnetic resonance imaging. (23364871)
2013
5
Early and late outcomes of total repair of tetralogy of Fallot: risk factors for late right ventricular dilatation. (23956267)
2013
6
Clinical utility of fetal magnetic resonance imaging in tetralogy of Fallot with absent pulmonary valve. (23401117)
2013
7
Pulmonary arterial wall stiffness and its impact on right ventricular afterload in patients with repaired tetralogy of Fallot. (23972390)
2013
8
Stable right ventricular size and function during short-term follow-up in patients with pulmonary regurgitation after tetralogy of Fallot repair. (23942263)
2013
9
Tetralogy of Fallot with atrioventricular septal defect: surgical strategies for repair and midterm outcome of pulmonary valve-sparing approach. (23104595)
2013
10
Evaluation by MRA of aortic dilation late after repair of tetralogy of Fallot. (22985743)
2013
11
Postoperative respiratory failure in children with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals: a pilot study. (23439458)
2013
12
Absent pulmonary valve syndrome with tetralogy of Fallot detected at an early gestational age of 27 weeks - a case report. (23647900)
2013
13
Indications for pulmonary valve replacement in repaired tetralogy of fallot: the quest continues. (24065609)
2013
14
Surgical management of tetralogy of fallot: in defense of the infundibulum. (24331142)
2013
15
A unique case of two sources of right ventricle enlargement in tetralogy of Fallot. (23799763)
2013
16
Successful percutaneous recanalization of thrombosed major aortopulmonary collateral artery in palliated tetralogy of fallot with pulmonary atresia. (22967228)
2013
17
Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. (22826717)
2012
18
Partial anomalous left pulmonary artery with associated bronchial anomalies in a patient with repaired Tetralogy of Fallot. (22732205)
2012
19
Tetralogy of Fallot: anatomic variants and their impact on surgical management. (22275348)
2012
20
Value of dynamic substrate mapping to identify the critical diastolic pathway in postoperative ventricular reentrant tachycardias after surgical repair of tetralogy of fallot. (22812535)
2012
21
Late repair of the native pulmonary valve in patients with pulmonary insufficiency after surgery for tetralogy of Fallot. (22269747)
2012
22
The comparison of the effect of three anesthetic induction regimens on the arterial oxygen saturation in children with tetralogy of fallot undergoing cardiac surgery. (22737408)
2011
23
Circulating levels of biomarkers of collagen synthesis and ventricular function and dyssynchrony in adolescents and young adults after repair of tetralogy of Fallot. (21884862)
2011
24
Relationship between temporal sequence of right ventricular deformation and right ventricular performance in patients with corrected tetralogy of Fallot. (21138862)
2011
25
Cervical and intracranial MRI findings in tetralogy of Fallot: Association with a persistent hypoglossal artery. (22408681)
2011
26
Frequency, origins and courses of anomalous coronary arteries in 607 Turkish children with tetralogy of Fallot. (21947991)
2011
27
Longitudinal exercise capacity of patients with repaired tetralogy of fallot. (21529748)
2011
28
Regional dysfunction of the right ventricular outflow tract reduces the accuracy of Doppler tissue imaging assessment of global right ventricular systolic function in patients with repaired tetralogy of Fallot. (21392939)
2011
29
Cardiac resynchronization therapy for management of congestive heart failure after repair of tetralogy of Fallot in an elderly patient. (20923827)
2011
30
Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. (20352138)
2010
31
The methylenetetrahydrofolate reductase gene variant (C677T) as a susceptibility gene for tetralogy of Fallot. (19894660)
2009
32
Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? (19353584)
2009
33
Prenatal diagnosis of complete atrioventricular canal associated with tetralogy of Fallot. (17663460)
2008
34
Chronic pulmonary valve insufficiency after repaired tetralogy of Fallot: diagnostics, reoperations and reconstruction possibilities. (17338667)
2007
35
A rare case of epilepsy in a 16-year-old girl with fallot tetralogy attributed to CNS heterotopia and pachygyria. (17431068)
2007
36
The expression of connexin 43 in children with Tetralogy of Fallot. (16010294)
2005
37
Total percutaneous correction of a tetralogy of Fallot variant with dominant pulmonary valve stenosis. (15710716)
2005
38
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
39
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. (14517948)
2003
40
Interactions of diazoxide with frusemide, spironolactone, and acetylsalicylic acid in a patient with hyperinsulinism of Infancy and Fallot tetralogy. (13680383)
2003
41
Plasma concentrations of atrial and brain natriuretic peptides and cyclic guanosine monophosphate in response to dobutamine infusion in patients with surgically repaired tetralogy of fallot. (10441688)
1999
42
Combined repair of upper sternal cleft and tetralogy of Fallot in an infant. (9262621)
1997
43
Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: relation to clinical events in tetralogy of Fallot. (1652127)
1991
44
Tetralogy of Fallot with complete atrioventricular canal: a report of successful surgical treatment. (1821003)
1991
45
Complete atrioventricular canal associated with tetralogy of Fallot. (3566399)
1987
46
Double-outlet right ventricle and tetralogy of Fallot. Two distinct but not mutually exclusive entities. (7278331)
1981
47
Radiologic notes in cardiology. Angiographic differentiation between tetralogy of Fallot and double-outlet right ventricle. Relationship of the mitral and aortic valves. (5544989)
1971
48
Tetralogy of Fallot with subacute bacterial endocarditis successful treatment with chloromycetin. (14933299)
1952
49
Dextrocardia, tetralogy of Fallot, and situs inversus; report of a case. (13028787)
1952
50
Observations on 26 infants under one year of age operated on for tetralogy of Fallot or tricuspid atresia. (14827636)
1951

Genetic Variations for Tetralogy of Fallot

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Tetralogy of Fallot:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1GATA4p.Pro407GlnVAR_067619rs115099192
2GATA6p.Ser184AsnVAR_067382
3GDF1p.Gly162AspVAR_065333
4GDF1p.Ser309ProVAR_065336
5GDF1p.Pro312ThrVAR_065337
6JAG1p.Gly274AspVAR_013200rs28939668
7NKX2-5p.Arg25CysVAR_010116rs28936670
8NKX2-5p.Glu21GlnVAR_038215
9NKX2-5p.Gln22ProVAR_038216
10NKX2-5p.Arg216CysVAR_038239
11NKX2-5p.Ala219ValVAR_038240
12NKX2-5p.Ala323ThrVAR_038253
13ZFPM2p.Glu30GlyVAR_017942rs121908601
14ZFPM2p.Ser657GlyVAR_017943rs28374544

Expression for genes affiliated with Tetralogy of Fallot

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Tetralogy of Fallot

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

Pathways for genes affiliated with Tetralogy of Fallot

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Sources:
51QIAGEN, 4Cell Signaling Technology, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Tetralogy of Fallot

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Sources:
44Novoseek, 11DrugBank, 24HMDB
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Compounds related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nitric oxide44 11 2412.3GJA5, NKX2-5, GATA4, JAG1, NPPB
2zinc44 2410.9ZFPM2, NPPB, GATA4, GATA6, GATA5, NKX2-5

GO Terms for genes affiliated with Tetralogy of Fallot

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16Gene Ontology
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Cellular components related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:03446410.4BBS2, BBS7

Biological processes related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idNameGO IDScoreTop Affiliating Genes
1right ventricular cardiac muscle tissue morphogenesisGO:00322110.8ZFPM2, NKX2-5
2embryonic heart tube left/right pattern formationGO:06097110.8CITED2, NKX2-5
3positive regulation of cardioblast differentiationGO:05189110.8GATA4, GATA6, NKX2-5
4pulmonary artery morphogenesisGO:06115610.8JAG1, CITED2
5intestinal epithelial cell differentiationGO:06057510.8GATA4, GATA6, GATA5
6atrial septum morphogenesisGO:06041310.8GATA4, NKX2-5, GJA5
7cardiac conduction system developmentGO:00316110.8NKX2-5, GJA5
8outflow tract septum morphogenesisGO:00314810.8GATA6, NKX2-5, TBX1, ZFPM2
9embryonic heart tube developmentGO:03505010.8GJA5, NKX2-5, HAND1
10negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.8BBS2, MKKS
11outflow tract morphogenesisGO:00315110.8CITED2, TBX1, GJA5
12pigment granule aggregation in cell centerGO:05187710.8BBS7, MKKS
13cardiac septum morphogenesisGO:06041110.8JAG1, HAND1
14positive regulation of male gonad developmentGO:200002010.8ZFPM2, CITED2
15ventricular septum morphogenesisGO:06041210.8CITED2, NKX2-5, ZFPM2, GJA5
16regulation of cilium beat frequency involved in ciliary motilityGO:06029610.8BBS2, MKKS
17response to estrogen stimulusGO:04362710.7GATA4, GATA6, CITED2
18nonmotile primary cilium assemblyGO:03505810.7VANGL2, MKKS
19melanosome transportGO:03240210.7BBS7, BBS2, MKKS
20determination of left/right symmetryGO:00736810.7MKKS, TBX1, CITED2, BBS7
21vasculogenesisGO:00157010.7ZFPM2, NKX2-5, CITED2
22endocardial cushion developmentGO:00319710.7GATA4, CITED2
23artery smooth muscle contractionGO:01482410.7BBS2, MKKS
24cilium morphogenesisGO:06027110.7MKKS, BBS2, BBS7
25heart developmentGO:00750710.7HAND1, CITED2, TBX1, MKKS
26cardiac right ventricle morphogenesisGO:00321510.7JAG1, GATA4
27fat cell differentiationGO:04544410.7MKKS, BBS2, BBS7
28aorta morphogenesisGO:03590910.7JAG1, TBX1
29male gonad developmentGO:00858410.7CITED2, GATA6, GATA4
30angiogenesisGO:00152510.7HAND1, JAG1, TBX1, GJA5
31striatum developmentGO:02175610.7BBS2, MKKS
32regulation of vasodilationGO:04231210.7NPPB, GJA5
33cardiac muscle hypertrophy in response to stressGO:01489810.7GATA4, GATA6
34negative regulation of gene expressionGO:01062910.7MKKS, CITED2, BBS2
35negative regulation of transcription from RNA polymerase II promoterGO:00012210.6FEZF2, HAND1, GATA6, CITED2, NKX2-5, ZFPM2
36negative regulation of transcription, DNA-dependentGO:04589210.6HAND1, GATA6, CITED2, NKX2-5, ZFPM2
37regulation of cardiac muscle contractionGO:05511710.6NKX2-5, GJA5
38cellular response to BMP stimulusGO:07177310.6GATA6, GATA5
39positive regulation of transcription, DNA-dependentGO:04589310.6FEZF2, GATA4, CITED2, NKX2-5, TBX1
40heart loopingGO:00194710.6VANGL2, MKKS, NKX2-5, CITED2, GATA4, HAND1
41brain morphogenesisGO:04885410.6BBS2, MKKS
42pharyngeal system developmentGO:06003710.6NKX2-5, TBX1
43positive regulation of transcription from RNA polymerase II promoterGO:04594410.6HAND1, JAG1, GATA4, GATA6, GATA5, CITED2
44digestive tract morphogenesisGO:04854610.5BBS7, VANGL2
45ventricular septum developmentGO:00328110.5GATA4, GJA5
46trophectodermal cell differentiationGO:00182910.5HAND1, CITED2
47cardiac muscle cell differentiationGO:05500710.4NKX2-5, GATA6
48vasodilationGO:04231110.4BBS2, MKKS
49thyroid gland developmentGO:03087810.3TBX1, NKX2-5
50positive regulation of cardiac muscle cell proliferationGO:06004510.1GATA6, GATA4

Molecular functions related to Tetralogy of Fallot according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.4GATA4, GATA6, GATA5, NKX2-5
2transcription regulatory region DNA bindingGO:04421210.4NKX2-5, GATA5, GATA6, GATA4, HAND1
3RNA polymerase II transcription coactivator activityGO:00110510.4ZFPM2, CITED2
4transcription factor bindingGO:00813410.3HAND1, GATA4, GATA6, NKX2-5, ZFPM2
5enhancer sequence-specific DNA bindingGO:00115810.3GATA5, GATA4
6sequence-specific DNA binding transcription factor activityGO:00370010.2GATA4, GATA6, GATA5, CITED2, NKX2-5, TBX1
7chromatin bindingGO:00368210.0GATA4, GATA6, CITED2, NKX2-5

Products for genes affiliated with Tetralogy of Fallot

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Sources for Tetralogy of Fallot

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet