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 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 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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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 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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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)
  • 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
  • clinodactyly of fifth finger
  • tetralogy of fallot/trilogy of fallot
  • thin/retracted lips
  • autosomal dominant inheritance

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, Kidney, Lymph node, 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
Outlier-based identification of copy number variations using targeted resequencing in a small cohort of patients with tetralogy of fallot. (24400131)
2014
2
Physiological and phenotypic characteristics of late survivors of tetralogy of fallot repair who are free from pulmonary valve replacement. (24065608)
2013
3
Aberrant subclavian artery origin in tetralogy of Fallot with pulmonary stenosis is associated with chromosomal or genetic abnormality. (23732114)
2013
4
Is there any need for a shunt in the treatment of tetralogy of Fallot with one source of pulmonary blood flow? (23482525)
2013
5
Tetralogy of Fallot with unilateral absent pulmonary artery. (22805480)
2013
6
Tetralogy of fallot, dextrocardia, and situs inversus associated with total anomalous pulmonary venous return. (23808654)
2013
7
QRS Complex Enlargement as a Predictor of Ventricular Arrhythmias in Patients Affected by Surgically Treated Tetralogy of Fallot: A Comprehensive Literature Review and Historical Overview. (23509638)
2013
8
Very early repair of tetralogy of Fallot: we can, but should we? (23625449)
2013
9
Hepatocellular carcinoma in an adult with repaired tetralogy of fallot. (22897884)
2013
10
Tricuspid annular plane systolic excursion in the assessment of right ventricular function in children and adolescents after repair of tetralogy of Fallot. (23928091)
2013
11
A tale of two ventricles: ventricular-ventricular interactions and LV dysfunction after surgical repair of Tetralogy of Fallot. (24375562)
2013
12
Tetralogy of Fallot and aortic root disease. (23405843)
2013
13
Ratio of early diastolic tricuspid inflow to tricuspid lateral annulus velocity reflects pulmonary regurgitation severity but not right ventricular diastolic function in children with repaired tetralogy of Fallot. (23247587)
2013
14
Catch-up growth in children after repair of Tetralogy of Fallot. (22309977)
2012
15
Surgical treatment of right ventricular outflow tract obstruction after Tetralogy of Fallot {S,D,I} repair. (22653446)
2012
16
Noncoding RNA expression in myocardium from infants with tetralogy of Fallot. (22528145)
2012
17
Anomalous origin of left common carotid artery from the ascending aorta in a case of tetralogy of fallot. (22957962)
2012
18
Mid-term results of bioprosthetic pulmonary valve replacement in pulmonary regurgitation after tetralogy of Fallot repair. (22561653)
2012
19
One-stage correction of tetralogy of Fallot associated with anomalous origin of the left pulmonary artery from the aorta and aortopulmonary window. (22150800)
2012
20
Right ventricular regional wall curvedness and area strain in patients with repaired tetralogy of Fallot. (22210750)
2012
21
Severe pulmonary regurgitation after tetralogy-of-Fallot repair: transcatheter treatment with the Edwards SAPIEN XT heart valve. (22373721)
2012
22
The left heart after pulmonary valve replacement in adults late after tetralogy of Fallot repair. (21570135)
2012
23
The incidence of congenital scoliosis in infants with tetralogy of Fallot based on chest radiographs. (22547146)
2012
24
MDCT angiography assessment of tetralogy of Fallot with atresic left pulmonary artery. (23173634)
2012
25
Homograft use in patient with tetralogy of Fallot and absent pulmonary valve. (23284113)
2012
26
Tetralogy of Fallot with congenital diaphragmatic hernia and left lung hypoplasia: assessment of the adequacy of the peripheral pulmonary vascular growth after hernia repair. (21920056)
2012
27
Electrical dyssynchrony and resynchronization in tetralogy of Fallot. (21195208)
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
Images in cardiovascular medicine: septic pulmonary thromboemboli in an adolescent with Tetralogy of Fallot. (21576681)
2011
30
Crossed pulmonary arteries in conjunction with tetralogy of Fallot. (21918322)
2011
31
A case of tetralogy of Fallot associated with left anterior descending coronary artery to pulmonary artery fistula. (21976889)
2011
32
Right ventricular outflow tract stenting in a low birth weight infant born with tetralogy of fallot and prostaglandin e1 dependency. (22259605)
2011
33
The optimal timing for magnetic resonance imaging in long-term follow-up of patients after a complete correction of the Tetralogy of Fallot. (22372332)
2011
34
Cor triatriatum and coronary artery fistula in tetralogy of Fallot. (21976888)
2011
35
Pregnancy in women with corrected tetralogy of Fallot: occurrence and predictors of adverse events. (21315213)
2011
36
Reconstruction of an isolated left subclavian artery in a patient with a right aortic arch and tetralogy of Fallot. (19847473)
2010
37
Tricuspid atresia and tetralogy of Fallot in an infant of a diabetic mother. (19198926)
2009
38
Blunt cardiac rupture in a patient with a history of total correction of tetralogy of Fallot. (18340514)
2008
39
Radical repair of cor triatriatum with partially unroofed coronary sinus and persistent left superior vena cava 35 years after operation for tetralogy of Fallot. (18482395)
2008
40
Tetralogy of fallot and cor-triatriatum a rare association: a case report. (18246733)
2007
41
Pre-operative evaluation with MR in tetralogy of fallot and pulmonary atresia with ventricular septal defect. (11167334)
2001
42
Neonatal cardiology casebook. Aortopulmonary window with tetralogy of Fallot and pulmonary atresia: echo cardiographic diagnosis and surgical repair in the neonatal period. (10642983)
1999
43
Atrioventricular septal defect with tetralogy of Fallot: results of surgical correction. (9930496)
1998
44
Atrioventricular septal defect and tetralogy of Fallot: a 15-year experience. (9288502)
1997
45
Surgical management of complete atrioventricular canal associated with tetralogy of Fallot. (8782923)
1996
46
Prenatally diagnosed female prune belly syndrome associated with tetralogy of Fallot. (7737585)
1995
47
Familial aplasia cutis congenita associated with limb anomalies and tetralogy of Fallot. (8425804)
1993
48
Repair of complete atrioventricular septal defect with tetralogy of Fallot. (2400260)
1990
49
Surgical repair of dextrocardia with tetralogy of Fallot--a case report. (3447965)
1987
50
Surgically induced right bundle-branch block with left anterior hemiblock. An ominous sign in postoperative tetralogy of Fallot. (5071742)
1972

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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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