TOF
MCID: TTR001
MIFTS: 74

Tetralogy of Fallot (TOF) malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Tetralogy of Fallot

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 flat supraorbital ridge, branchial/posterior auricular/preauricular/cheek cysts/fistulae and proptosis/exophthalmos. 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 5-aza-2deoxycytidine and zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and skin, and related mouse phenotypes are liver/biliary system and skeleton.

Wikipedia:66 Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four... more...

Description from OMIM:48 187500

Aliases & Classifications for Tetralogy of Fallot

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 23GTR, 48OMIM, 11DISEASES, 50Orphanet, 59SNOMED-CT, 41NCIt, 63UMLS, 36MeSH, 28ICD9CM, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
tetralogy of fallot:
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-5/10000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

tetralogy of fallot 9 10 44 48 11 50
fallot tetralogy 44 23
atresia, dextraposition of aorta, and hypertrophy of right ventricle 9
ventricular septal defect with pulmonary stenosis 9
tetralogy of fallot, unspecified 9
tetralogy of fallot nos 9
tof 44


External Ids:

Disease Ontology9 DOID:6419
NCIt41 C84505
OMIM48 187500
MeSH36 D013771
ICD9CM28 745.2
ICD10 via Orphanet27 Q21.3
SNOMED-CT via Orphanet60 86299006
UMLS via Orphanet64 C0039685
MESH via Orphanet37 D013771
ICD1026 Q21.3

Related Diseases for Tetralogy of Fallot

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18GeneCards, 19GeneDecks
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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 281)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect31.5GATA4, NKX2-5
2ventricular septal defect31.4JAG1, NKX2-5, GATA4, NPPB
3digeorge syndrome31.1UFD1L, TBX1, CTHM
4congenital heart disease31.0NPPB, GATA4, NKX2-5
5ebstein anomaly30.5TBX1
6holt-oram syndrome30.4TBX1
7noonan syndrome30.4NKX2-5, GATA4, NPPB
8pulmonary embolism30.3NPPB, TBX1
9congenital diaphragmatic hernia30.3ZFPM2, GATA4
10velocardiofacial syndrome30.0TBX1, UFD1L
11complete atrioventricular canal10.8
12double outlet right ventricle10.8
13right bundle branch block10.7
14aortopulmonary window10.7
15right aortic arch10.7
16pulmonary atresia with ventricular septal defect10.7
17endocarditis10.6
18cor triatriatum10.6
19pulmonic stenosis10.6
20aneurysm10.6
21dextrocardia10.6
22pentalogy of cantrell10.5
23patent ductus arteriosus10.5
24hypertension10.5
25pulmonary valve stenosis10.5
26transposition of the great arteries10.5
27situs inversus10.4
28hypertrophic cardiomyopathy10.4
29subacute bacterial endocarditis10.4
30tracheal stenosis10.4
31cerebritis10.4
32pulmonary valve insufficiency10.4
33duodenal atresia tetralogy of fallot10.4
34hypertelorism and tetralogy of fallot10.4
35tetralogy of fallot and glaucoma10.4
36accessory tricuspid valve tissue10.4
37purpura10.4
38complete atrioventricular canal - fallot tetralogy10.4
39breast cancer10.3
40goldenhar syndrome10.3
41microcephaly10.3
42constrictive pericarditis10.3
43discrete subaortic stenosis10.3
44hydrocephalus10.3
45lipoma10.3
46long qt syndrome10.3
47pericarditis10.3
48pheochromocytoma10.3
49mckusick-kaufman syndrome10.3
50aplasia cutis congenita10.3

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



Diseases related to tetralogy of fallot

Symptoms for Tetralogy of Fallot

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48OMIM, 50Orphanet
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Clinical features from OMIM:

187500

Symptoms:

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

Drugs & Therapeutics for Tetralogy of Fallot

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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23GTR
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Genetic tests related to Tetralogy of Fallot:

id Genetic test Affiliating Genes
1 Tetralogy of Fallot23

Anatomical Context for Tetralogy of Fallot

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34MalaCards
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MalaCards organs/tissues related to Tetralogy of Fallot:

34
Heart, Lung, Skin, Testes, Brain, Bone, Kidney, Trachea, Lymph node, Placenta

Animal Models for Tetralogy of Fallot or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Tetralogy of Fallot:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.4GDF1, ZFPM2, HEY2, JAG1, GATA6, GATA4
2MP:00053909.3GDF1, CITED2, JAG1, TBX1, GATA5, GATA4
3MP:00053719.3HAND1, CITED2, BBS7, BBS1, TBX1, GATA6
4MP:00053799.3GDF1, CITED2, ZFPM2, JAG1, TBX1, GJA5
5MP:00053899.2GATA4, GATA5, GJA5, BBS1, ZFPM2, HAND1
6MP:00053679.2GDF1, CITED2, JAG1, BBS1, GATA5
7MP:00053819.2GDF1, CITED2, JAG1, BBS7, TBX1, GJA5
8MP:00053979.1GDF1, CITED2, JAG1, NKX2-5, TBX1, GJA5
9MP:00053828.9HAND1, GDF1, CITED2, HEY2, JAG1, BBS7
10MP:00053888.8HEY2, ZFPM2, CITED2, GDF1, BBS1, NKX2-5
11MP:00028738.8ZFPM2, CITED2, GDF1, HAND1, JAG1, UFD1L
12MP:00053808.8HAND1, GDF1, CITED2, HEY2, JAG1, BBS7
13MP:00053848.7ZFPM2, CITED2, GDF1, HAND1, JAG1, BBS1
14MP:00053788.6HEY2, CITED2, GDF1, HAND1, JAG1, BBS1
15MP:00053698.6HAND1, ZFPM2, HEY2, JAG1, NKX2-5, TBX1
16MP:00036318.6HAND1, GDF1, CITED2, HEY2, JAG1, BBS7
17MP:00053768.1JAG1, HEY2, ZFPM2, CITED2, HAND1, BBS7
18MP:00107688.0JAG1, HEY2, ZFPM2, CITED2, GDF1, HAND1
19MP:00053857.8NPPB, HAND1, GDF1, CITED2, ZFPM2, HEY2

Publications for Tetralogy of Fallot

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53PubMed
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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 725)
idTitleAuthorsYear
1
Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined? (24186927)
2014
2
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot. (24400131)
2014
3
Valve-sparing tetralogy of Fallot repair with intraoperative dilation of the pulmonary valve. (23179422)
2013
4
Altered diastolic left atrial and ventricular performance in asymptomatic patients after repair of tetralogy of Fallot. (23179427)
2013
5
Dobutamine stress MRI in repaired tetralogy of Fallot with chronic pulmonary regurgitation: a comparison with healthy volunteers. (22154014)
2013
6
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
7
Role of myocardial hypertrophy on acute and chronic right ventricular performance in relation to chronic volume overload in aA porcine model: Relevance for the surgical management of tetralogy of Fallot. (24280710)
2013
8
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
9
Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography. (24223166)
2013
10
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
11
DNA sequencing of TGFI^2 in sporadic patients with tetralogy of Fallot. (22969986)
2012
12
Assessment of a right-ventricular infundibulum-sparing approach in transatrial-transpulmonary repair of tetralogy of Fallot. (21592812)
2012
13
Catch-up growth in children after repair of Tetralogy of Fallot. (22309977)
2012
14
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
15
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
16
Double-barrel right ventricular outflow: tetralogy of Fallot annulus preservation technique. (22916765)
2012
17
Tetralogy of Fallot: fetal diagnosis to surgical correction. (22992529)
2012
18
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
19
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
20
Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot. (22314278)
2012
21
Influence of RV restrictive physiology on LV diastolic function in children after tetralogy of Fallot repair. (22727200)
2012
22
The cause of B-type natriuretic peptide elevation and the dose-dependent effect of angiotensin-converting enzyme inhibitor on patients late after tetralogy of Fallot repair. (22271387)
2012
23
Multiple aplasia cutis congenita lesions located along Blaschko's lines in a patient with tetralogy of Fallot-A. (22826717)
2012
24
Pulmonary tuberculosis in an adult patient with tetralogy of Fallot. (23935302)
2012
25
Electrical dyssynchrony and resynchronization in tetralogy of Fallot. (21195208)
2011
26
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children. (21893051)
2011
27
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. (21519287)
2011
28
Successful delivery by a cesarean section in a parturient with severe dilated cardiomyopathy, an implantable cardioverter defibrillator, and a repaired tetralogy of fallot. (21731806)
2011
29
A statistical model for quantification and prediction of cardiac remodelling: application to tetralogy of Fallot. (21880565)
2011
30
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
31
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
32
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)
2009
33
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
34
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
35
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
36
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
2005
37
The expression of connexin 43 in children with Tetralogy of Fallot. (16010294)
2005
38
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)
2004
39
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. (14517948)
2003
40
Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome? (11152158)
2001
41
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
42
Branch pulmonary artery growth after blalock-taussig shunts in tetralogy of fallot and pulmonary atresia with ventricular septal defect: a retrospective, echocardiographic study. (10441692)
1999
43
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
44
A familial disorder with duodenal atresia and tetralogy of Fallot. (8957509)
1996
45
Expression of proto-oncogenes, genes for muscle specific isoforms and heat shock protein (HSP) -70 gene in hypertrophied cardiac muscles from patients with atrial septal defect or tetralogy of Fallot. (7833841)
1994
46
Surgical treatment of tetralogy of Fallot and pulmonary atresia with ventricular septal defect. (8279911)
1994
47
Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: relation to clinical events in tetralogy of Fallot. (1652127)
1991
48
Complete atrioventricular canal associated with tetralogy of Fallot. (3566399)
1987
49
Repair of complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle: report of 10 patients. (6987965)
1980
50
Collateral circulation in subclavian atresia. Report of a case with right aortic arch and tetralogy of Fallot. (4245508)
1969

Variations for Tetralogy of Fallot

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Tetralogy of Fallot:

65 (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

Clinvar genetic disease variations for Tetralogy of Fallot:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1GATA4NM_002052.3(GATA4): c.487C> T (p.Pro163Ser)single nucleotide variantPathogenicrs387906769GRCh37Chr 8, 11566308: 11566308
2GATA4NM_002052.3(GATA4): c.1220C> A (p.Pro407Gln)single nucleotide variantPathogenicrs115099192GRCh37Chr 8, 11615875: 11615875
3GATA4GATA4, 3-BP INS, 354GCCinsertionPathogenic
4GATA6NM_005257.5(GATA6): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs387906814GRCh37Chr 18, 19751697: 19751697
5GATA6NM_005257.5(GATA6): c.551G> A (p.Ser184Asn)single nucleotide variantPathogenicrs387906816GRCh37Chr 18, 19751656: 19751656
6ZFPM2ZFPM2, MET544ILEsingle nucleotide variantPathogenic
7ZFPM2NM_012082.3(ZFPM2): c.1969A> G (p.Ser657Gly)single nucleotide variantPathogenicrs28374544GRCh37Chr 8, 106814279: 106814279
8ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
9NM_001492.5(GDF1): c.485G> A (p.Gly162Asp)single nucleotide variantPathogenicrs121434424GRCh37Chr 19, 18980040: 18980040
10TBX1TBX1, 30-BP DUP, NT1399duplicationPathogenic
11JAG1NM_000214.2(JAG1): c.821G> A (p.Gly274Asp)single nucleotide variantPathogenicrs28939668GRCh37Chr 20, 10633181: 10633181
12NKX2-5NM_004387.3(NKX2-5): c.73C> T (p.Arg25Cys)single nucleotide variantBenign, Pathogenic, Uncertain significancers28936670GRCh37Chr 5, 172662014: 172662014
13NKX2-5NM_004387.3(NKX2-5): c.61G> C (p.Glu21Gln)single nucleotide variantLikely benign, Pathogenicrs104893904GRCh37Chr 5, 172662026: 172662026
14NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
15NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
16GATA4NM_002052.3(GATA4): c.1273G> A (p.Asp425Asn)single nucleotide variantPathogenicrs56208331GRCh37Chr 8, 11615928: 11615928

Expression for genes affiliated with Tetralogy of Fallot

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2BioGPS, 16Gene 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:
51PathCards, 54QIAGEN, 5Cell Signaling Technology, 39NCBI BioSystems Database, 56Reactome
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Compounds for genes affiliated with Tetralogy of Fallot

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46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine469.9GATA4, GATA6, GATA5
2zinc46 2510.3NPPB, GATA4, GATA6, GATA5, NKX2-5, ZFPM2
3nitric oxide46 25 1210.9HSPA14, JAG1, NKX2-5, GJA5, GATA4, NPPB

GO Terms for genes affiliated with Tetralogy of Fallot

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17Gene Ontology
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Cellular components related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:06017010.0BBS1, BBS7
2BBSomeGO:0344649.7BBS1, BBS7
3nucleoplasmGO:0056549.2GATA4, HAND1, ZFPM2, HEY2, GATA5, GATA6

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:00322110.5NKX2-5, ZFPM2
2cardiac conduction system developmentGO:00316110.5GJA5, NKX2-5
3positive regulation of male gonad developmentGO:200002010.5CITED2, ZFPM2
4embryonic heart tube left/right pattern formationGO:06097110.5NKX2-5, CITED2
5aorta morphogenesisGO:03590910.5TBX1, JAG1
6endocardial cushion developmentGO:00319710.4CITED2, GATA4
7regulation of cardiac muscle contractionGO:05511710.4GJA5, NKX2-5
8pharyngeal system developmentGO:06003710.4TBX1, NKX2-5
9positive regulation of cardioblast differentiationGO:05189110.4GATA4, GATA6, NKX2-5
10pulmonary valve morphogenesisGO:00318410.4HEY2, JAG1
11intestinal epithelial cell differentiationGO:06057510.4GATA4, GATA6, GATA5
12Notch signaling involved in heart developmentGO:06131410.4HEY2, JAG1
13negative regulation of cardiac muscle cell apoptotic processGO:01066710.4HEY2, NKX2-5
14cardiac ventricle morphogenesisGO:00320810.4HEY2, GATA4
15cardiac muscle cell differentiationGO:05500710.3GATA6, NKX2-5
16ventricular septum developmentGO:00328110.3GATA4, GJA5
17ventricular trabecula myocardium morphogenesisGO:00322210.3HEY2, NKX2-5
18trophectodermal cell differentiationGO:00182910.3CITED2, HAND1
19ventricular cardiac muscle cell developmentGO:05501510.3HEY2, NKX2-5
20response to estrogenGO:04362710.3GATA4, GATA6, CITED2
21cellular response to BMP stimulusGO:07177310.3GATA6, GATA5
22nonmotile primary cilium assemblyGO:03505810.3BBS7, BBS1
23embryonic heart tube developmentGO:03505010.3GJA5, NKX2-5, HAND1
24heart trabecula formationGO:06034710.3HEY2, NKX2-5
25male gonad developmentGO:00858410.3CITED2, GATA6, GATA4
26thyroid gland developmentGO:03087810.3NKX2-5, TBX1
27cardiac right ventricle morphogenesisGO:00321510.3HEY2, JAG1, GATA4
28pulmonary artery morphogenesisGO:06115610.3CITED2, HEY2, JAG1
29cardiac muscle hypertrophy in response to stressGO:01489810.3GATA4, GATA6, HEY2
30outflow tract septum morphogenesisGO:00314810.3ZFPM2, NKX2-5, TBX1, GATA6
31positive regulation of cardiac muscle cell proliferationGO:06004510.2HEY2, GATA6, GATA4
32smooth muscle cell differentiationGO:05114510.2GATA6, HEY2
33determination of left/right symmetryGO:00736810.2CITED2, BBS7, TBX1
34cardiac septum morphogenesisGO:06041110.2JAG1, HEY2, HAND1
35artery morphogenesisGO:04884410.2GJA5, TBX1
36heart morphogenesisGO:00300710.1TBX1, NKX2-5
37angiogenesisGO:00152510.1HAND1, JAG1, TBX1, GJA5
38atrial septum morphogenesisGO:06041310.1GATA4, GJA5, NKX2-5, HEY2
39vasculogenesisGO:00157010.0CITED2, ZFPM2, HEY2, NKX2-5
40outflow tract morphogenesisGO:00315110.0CITED2, HEY2, TBX1, GJA5
41heart developmentGO:00750710.0TBX1, CITED2, HAND1
42ventricular septum morphogenesisGO:0604129.9CITED2, ZFPM2, HEY2, NKX2-5, GJA5
43heart loopingGO:0019479.9GATA4, NKX2-5, BBS7, CITED2, HAND1
44transcription from RNA polymerase II promoterGO:0063669.9HAND1, HEY2, GATA6, GATA4
45spleen developmentGO:0485369.8NKX2-5, CITED2
46blood coagulationGO:0075969.8ZFPM2, GATA5, GATA6, GATA4
47negative regulation of transcription, DNA-templatedGO:0458929.7HAND1, CITED2, ZFPM2, HEY2, NKX2-5, GATA6
48negative regulation of transcription from RNA polymerase II promoterGO:0001229.7HAND1, CITED2, ZFPM2, HEY2, NKX2-5, GATA6
49positive regulation of transcription, DNA-templatedGO:0458939.6CITED2, NKX2-5, TBX1, GATA4
50positive regulation of transcription from RNA polymerase II promoterGO:0459449.0GATA4, HAND1, CITED2, ZFPM2, HEY2, JAG1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:00115810.0GATA5, GATA4
2RNA polymerase II activating transcription factor bindingGO:00110210.0HEY2, CITED2
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.0NKX2-5, GATA5, GATA6, GATA4
4RNA polymerase II repressing transcription factor bindingGO:0011039.9GATA6, BBS1, BBS7
5RNA polymerase II transcription coactivator activityGO:0011059.8ZFPM2, CITED2
6transcription regulatory region DNA bindingGO:0442129.8HAND1, NKX2-5, GATA5, GATA6, GATA4
7chromatin bindingGO:0036829.7GATA4, GATA6, NKX2-5, CITED2
8transcription factor bindingGO:0081349.5GATA4, GATA6, NKX2-5, HEY2, ZFPM2, HAND1
9sequence-specific DNA bindingGO:0435659.5HAND1, HEY2, NKX2-5, TBX1, GATA4
10sequence-specific DNA binding transcription factor activityGO:0037009.3CITED2, HEY2, NKX2-5, TBX1, GATA5, GATA6
11protein bindingGO:0055157.7HAND1, L1RE1, HSPA14, CITED2, ZFPM2, HEY2

Products for genes affiliated with Tetralogy of Fallot

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  • Antibodies
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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet