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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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 based summary: Tetralogy of Fallot, also known as fallot tetralogy, is related to atrioventricular septal defect and ventricular septal defect, and has symptoms including broad forehead, brachydactyly syndrome and intrauterine growth retardation. 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:64 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:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 46OMIM, 11DISEASES, 48Orphanet, 23GTR, 34MeSH, 56SNOMED-CT, 39NCIt, 28ICD9CM, 61UMLS, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet, 26ICD10
See all sources

Tetralogy of Fallot, Aliases & Descriptions:

Name: Tetralogy of Fallot 9 10 42 46 11 48
Fallot Tetralogy 42 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 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:6419
MeSH34 D013771
NCIt39 C84505
ICD9CM28 745.2
OMIM46 187500
MESH via Orphanet35 D013771
ICD10 via Orphanet27 Q21.3
UMLS via Orphanet62 C0039685
ICD1026 Q21.3

Related Diseases for Tetralogy of Fallot

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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 290)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular septal defect32.1GATA4, NKX2-5
2ventricular septal defect31.8JAG1, NKX2-5, GATA4, NPPB
3congenital heart disease31.4NPPB, GATA4, NKX2-5
4ebstein anomaly31.1TBX1
5holt-oram syndrome31.0TBX1
6velocardiofacial syndrome30.9TBX1, UFD1L
7noonan syndrome30.7NKX2-5, GATA4, NPPB
8pulmonary embolism30.6NPPB, TBX1
9congenital diaphragmatic hernia30.6ZFPM2, GATA4
10complete atrioventricular canal10.8
11double outlet right ventricle10.8
12right bundle branch block10.7
13aortopulmonary window10.7
14right aortic arch10.7
15digeorge syndrome10.7
16cor triatriatum10.7
17pulmonary atresia with ventricular septal defect10.7
18pulmonic stenosis10.7
19endocarditis10.6
20aneurysm10.6
21tetrology of fallot10.6NKX2-5
22persistent truncus arteriosus10.6GATA6
23dextrocardia10.5
24pentalogy of cantrell10.5
25familial atrial fibrillation10.5GATA5
26diaphragmatic hernia 310.5ZFPM2
27hypertension10.5
28patent ductus arteriosus10.5
29pulmonary valve stenosis10.5
30heart septal defect10.4NKX2-5, GATA4
31pulmonary valve insufficiency10.4
32situs inversus10.4
33hypertrophic cardiomyopathy10.4
34subacute bacterial endocarditis10.4
35tracheal stenosis10.4
36cerebritis10.4
37duodenal atresia tetralogy of fallot10.4
38hypertelorism and tetralogy of fallot10.4
39tetralogy of fallot and glaucoma10.4
40transposition of the great arteries10.4
41accessory tricuspid valve tissue10.4
42bardet-biedl syndrome 710.4BBS7
43endodermal sinus tumor10.4GATA6, GATA4
44purpura10.4
45bardet-biedl syndrome 110.4BBS1
46conotruncal heart malformations10.4GATA6, TBX1, GDF1
47complete atrioventricular canal - fallot tetralogy10.4
48atrial heart septal defect10.4NPPB, GATA4, NKX2-5
49atrioventricular block10.4NKX2-5, GATA4, NPPB
50breast cancer10.4

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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Clinical features from OMIM:

187500

Symptoms:

 48 (show all 13)
  • broad forehead
  • 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
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • tetralogy of fallot/trilogy of fallot
  • undescended/ectopic testes/cryptorchidia/unfixed testes

HPO human phenotypes related to Tetralogy of Fallot:

(show all 12)
id Description Frequency HPO Source Accession
1 broad forehead hallmark (90%) HP:0000337
2 brachydactyly syndrome hallmark (90%) HP:0001156
3 intrauterine growth retardation hallmark (90%) HP:0001511
4 clinodactyly of the 5th finger hallmark (90%) HP:0004209
5 abnormal nasal morphology hallmark (90%) HP:0005105
6 cryptorchidism typical (50%) HP:0000028
7 thin vermilion border typical (50%) HP:0000233
8 dolichocephaly typical (50%) HP:0000268
9 abnormality of periauricular region typical (50%) HP:0000383
10 proptosis typical (50%) HP:0000520
11 tetralogy of fallot typical (50%) HP:0001636
12 underdeveloped supraorbital ridges typical (50%) HP:0009891

Drugs & Therapeutics for Tetralogy of Fallot

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Drug clinical trials:

Search ClinicalTrials for Tetralogy of Fallot

Search NIH Clinical Center for Tetralogy of Fallot

Genetic Tests for Tetralogy of Fallot

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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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MalaCards organs/tissues related to Tetralogy of Fallot:

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

Animal Models for Tetralogy of Fallot or affiliated genes

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MGI Mouse Phenotypes related to Tetralogy of Fallot:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.5GDF1, 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:00053899.3GATA4, 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:00053828.8HAND1, 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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Articles related to Tetralogy of Fallot:

(show top 50)    (show all 750)
idTitleAuthorsYear
1
Rationale and Design of the Canadian Outcomes Registry Late After Tetralogy of Fallot Repair: The CORRELATE Study. (25239650)
2014
2
Functional analysis of the anatomical right ventricular components: should assessment of right ventricular function after repair of tetralogy of Fallot be refined? (24186927)
2014
3
Neurohormonal activation and its relation to outcomes late after repair of tetralogy of Fallot. (25351509)
2014
4
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot. (24400131)
2014
5
Tetralogy of Fallot with double aortic arch and discontinuous left pulmonary artery. (25319093)
2014
6
Valve-sparing tetralogy of Fallot repair with intraoperative dilation of the pulmonary valve. (23179422)
2013
7
Altered diastolic left atrial and ventricular performance in asymptomatic patients after repair of tetralogy of Fallot. (23179427)
2013
8
Dobutamine stress MRI in repaired tetralogy of Fallot with chronic pulmonary regurgitation: a comparison with healthy volunteers. (22154014)
2013
9
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
10
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
11
Sympathetic paraganglioma in a patient with unrepaired tetralogy of Fallot: a case report and review of the literature. (23150681)
2013
12
Left Ventricular Mechanics in Repaired Tetralogy of Fallot with and without Pulmonary Valve Replacement: Analysis by Three-Dimensional Speckle Tracking Echocardiography. (24223166)
2013
13
Primary repair of tetralogy of Fallot in infants: Transatrial/transpulmonary or transventricular approach. (24054755)
2013
14
DNA sequencing of TGFI^2 in sporadic patients with tetralogy of Fallot. (22969986)
2012
15
Assessment of a right-ventricular infundibulum-sparing approach in transatrial-transpulmonary repair of tetralogy of Fallot. (21592812)
2012
16
Catch-up growth in children after repair of Tetralogy of Fallot. (22309977)
2012
17
Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of fallot. (23020118)
2012
18
Tetralogy of Fallot with Holt-Oram syndrome. (22572437)
2012
19
Double-barrel right ventricular outflow: tetralogy of Fallot annulus preservation technique. (22916765)
2012
20
Tetralogy of Fallot: fetal diagnosis to surgical correction. (22992529)
2012
21
Outcome after repair of atrioventricular septal defect with tetralogy of Fallot. (21855095)
2012
22
Postoperative tetralogy of fallot with concomitant atrial fibrillation and ventricular tachycardia. (22808576)
2012
23
Psychosocial impact of implantable cardioverter defibrillators (ICD) in young adults with Tetralogy of Fallot. (22314278)
2012
24
Influence of RV restrictive physiology on LV diastolic function in children after tetralogy of Fallot repair. (22727200)
2012
25
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
26
Electrical dyssynchrony and resynchronization in tetralogy of Fallot. (21195208)
2011
27
Mutational analysis of JAG1 gene in non-syndromic tetralogy of Fallot children. (21893051)
2011
28
Investigation of somatic NKX2-5, GATA4 and HAND1 mutations in patients with tetralogy of Fallot. (21519287)
2011
29
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
30
A statistical model for quantification and prediction of cardiac remodelling: application to tetralogy of Fallot. (21880565)
2011
31
A case of Seckel syndrome with Tetralogy of Fallot. (20420029)
2010
32
Chondrodysplasia punctata associated with tetralogy of Fallot in a newborn infant. (20681228)
2010
33
Genetic screening of the canine zinc finger protein multitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)
2009
34
Pre-operative evaluation with magnetic resonance imaging in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (18575288)
2008
35
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
36
Anesthesia in an infant with uncorrected tetralogy of Fallot for transanal pull-through for Hirschsprung's disease. (16409542)
2006
37
Initial experience with Bosentan therapy in patients with the Eisenmenger syndrome: Tetralogy of Fallot? (15670566)
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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UniProtKB/Swiss-Prot genetic disease variations for Tetralogy of Fallot:

63 (show all 17)
id Symbol AA change Variation ID SNP ID
1GATA4p.Pro407GlnVAR_067619rs115099192
2GATA4p.Ala9ProVAR_071514
3GATA4p.Leu51ValVAR_071515
4GATA4p.Asn285SerVAR_071516
5GATA6p.Ser184AsnVAR_067382
6GDF1p.Gly162AspVAR_065333
7GDF1p.Ser309ProVAR_065336
8GDF1p.Pro312ThrVAR_065337
9JAG1p.Gly274AspVAR_013200rs28939668
10NKX2-5p.Arg25CysVAR_010116rs28936670
11NKX2-5p.Glu21GlnVAR_038215
12NKX2-5p.Gln22ProVAR_038216
13NKX2-5p.Arg216CysVAR_038239
14NKX2-5p.Ala219ValVAR_038240
15NKX2-5p.Ala323ThrVAR_038253
16ZFPM2p.Glu30GlyVAR_017942rs121908601
17ZFPM2p.Ser657GlyVAR_017943rs28374544

Clinvar genetic disease variations for Tetralogy of Fallot:

7 (show all 15)
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.61G> C (p.Glu21Gln)single nucleotide variantPathogenicrs104893904GRCh37Chr 5, 172662026: 172662026
13NKX2-5NM_004387.3(NKX2-5): c.646C> T (p.Arg216Cys)single nucleotide variantPathogenicrs104893905GRCh37Chr 5, 172659901: 172659901
14NKX2-5NM_004387.3(NKX2-5): c.656C> T (p.Ala219Val)single nucleotide variantPathogenicrs104893902GRCh37Chr 5, 172659891: 172659891
15GATA4NM_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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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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Compounds for genes affiliated with Tetralogy of Fallot

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Sources:
44Novoseek, 25HMDB, 12DrugBank
See all sources

Compounds related to Tetralogy of Fallot according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
15-aza-2deoxycytidine4410.0GATA4, GATA6, GATA5
2zinc44 2510.3NPPB, GATA4, GATA6, GATA5, NKX2-5, ZFPM2
3nitric oxide44 25 1210.9HSPA14, JAG1, NKX2-5, GJA5, GATA4, NPPB

GO Terms for genes affiliated with Tetralogy of Fallot

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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
7positive regulation of cardioblast differentiationGO:05189110.4GATA4, GATA6, NKX2-5
8intestinal epithelial cell differentiationGO:06057510.4GATA4, GATA6, GATA5
9regulation of cardiac muscle contractionGO:05511710.4GJA5, NKX2-5
10pulmonary valve morphogenesisGO:00318410.4HEY2, JAG1
11cardiac ventricle morphogenesisGO:00320810.4HEY2, GATA4
12pharyngeal system developmentGO:06003710.4TBX1, NKX2-5
13Notch signaling involved in heart developmentGO:06131410.4HEY2, JAG1
14ventricular septum developmentGO:00328110.4GATA4, GJA5
15negative regulation of cardiac muscle cell apoptotic processGO:01066710.4HEY2, NKX2-5
16cardiac muscle cell differentiationGO:05500710.3GATA6, NKX2-5
17response to estrogenGO:04362710.3GATA4, GATA6, CITED2
18trophectodermal cell differentiationGO:00182910.3CITED2, HAND1
19ventricular trabecula myocardium morphogenesisGO:00322210.3HEY2, NKX2-5
20ventricular cardiac muscle cell developmentGO:05501510.3HEY2, NKX2-5
21male gonad developmentGO:00858410.3CITED2, GATA6, GATA4
22cellular response to BMP stimulusGO:07177310.3GATA6, GATA5
23nonmotile primary cilium assemblyGO:03505810.3BBS7, BBS1
24cardiac right ventricle morphogenesisGO:00321510.3HEY2, JAG1, GATA4
25embryonic heart tube developmentGO:03505010.3GJA5, NKX2-5, HAND1
26heart trabecula formationGO:06034710.3HEY2, NKX2-5
27cardiac muscle hypertrophy in response to stressGO:01489810.3GATA4, GATA6, HEY2
28positive regulation of cardiac muscle cell proliferationGO:06004510.3HEY2, GATA6, GATA4
29thyroid gland developmentGO:03087810.3NKX2-5, TBX1
30pulmonary artery morphogenesisGO:06115610.3CITED2, HEY2, JAG1
31smooth muscle cell differentiationGO:05114510.2GATA6, HEY2
32cardiac septum morphogenesisGO:06041110.2JAG1, HEY2, HAND1
33outflow tract septum morphogenesisGO:00314810.2ZFPM2, NKX2-5, TBX1, GATA6
34determination of left/right symmetryGO:00736810.2CITED2, BBS7, TBX1
35artery morphogenesisGO:04884410.2GJA5, TBX1
36angiogenesisGO:00152510.1HAND1, JAG1, TBX1, GJA5
37heart morphogenesisGO:00300710.1TBX1, NKX2-5
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
42heart loopingGO:0019479.9GATA4, NKX2-5, BBS7, CITED2, HAND1
43transcription from RNA polymerase II promoterGO:0063669.9HAND1, HEY2, GATA6, GATA4
44ventricular septum morphogenesisGO:0604129.9CITED2, ZFPM2, HEY2, NKX2-5, GJA5
45blood coagulationGO:0075969.8ZFPM2, GATA5, GATA6, GATA4
46spleen developmentGO:0485369.8NKX2-5, CITED2
47negative regulation of transcription, DNA-templatedGO:0458929.7HAND1, CITED2, ZFPM2, HEY2, NKX2-5, GATA6
48negative regulation of transcription from RNA polymerase II promoterGO:0001229.6HAND1, 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 distal enhancer sequence-specific DNA binding transcription factor activityGO:00370510.0NKX2-5, GATA5, GATA6, GATA4
3RNA polymerase II activating transcription factor bindingGO:00110210.0HEY2, CITED2
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:0036829.8GATA4, 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

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4CDC
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23GTR
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