TOF
MCID: TTR001

Tetralogy of Fallot malady

Summaries for Tetralogy of Fallot

Sources:
30NIH Rare Diseases, 44Wikipedia, 33OMIM, 22MalaCards
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NIH Rare Diseases: 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. 30

MalaCards: Tetralogy of Fallot, also known as atresia, dextraposition of aorta, and hypertrophy of right ventricle, is related to atrial heart septal defect and ventricular septal defect. An important gene associated with Tetralogy of Fallot is DGCR (DiGeorge syndrome chromosome region), and among its related pathways are HOP Signaling and Cardiomyocyte Differentiation through BMP Receptors. The compounds ascorbic acid and apocynin have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and lung, and related mouse phenotypes are taste/olfaction and hematopoietic system.

Wikipedia: Tetralogy of Fallot (TOF) is a congenital heart defect which is classically understood to involve four...44 more...

OMIM: 187500

Aliases & Descriptions for Tetralogy of Fallot

Sources:
6Disease Ontology, 7diseasecard, 30NIH Rare Diseases, 8DISEASES, 33OMIM, 43UMLS, 40SNOMED-CT, 19ICD9CM, 24MeSH, 27NCIt
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Aliases & Descriptions:

tetralogy of fallot 6 7 30 8 33
atresia, dextraposition of aorta, and hypertrophy of right ventricle 6
ventricular septal defect with pulmonary stenosis 6
tetralogy of fallot, unspecified (disorder) 6
tetralogy of fallot nos (disorder) 6
tetralogy of fallot, unspecified 6
tetralogy of fallot (disorder) 6
heart septal defects 43
fallot tetralogy 30
tof 30

Related Diseases for Tetralogy of Fallot

Sources:
13GeneCards, 14GeneDecks
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Diseases related to tetralogy of fallot by text searches and GeneDecks gene sharing:

(show top 50)    (show all 429)
idRelated DiseaseScoreTop Affiliating Genes
1atrial heart septal defect33.7NPPB, NKX2-5, GATA4
2ventricular septal defect32.3JAG1, NPPB, NKX2-5, GATA4
3mckusick-kaufman syndrome31.6BBS1, BBS2, BBS4, BBS7, JAG1, MKKS
4polydactyly31.4BBS1, BBS2, BBS4, BBS7, MKKS
5patent foramen ovale30.5F5, NKX2-5
6congenital heart defect30.3S100A1, MMP3, GJA1, NPPA, NPPB, NKX2-5
7atrioventricular septal defect30.0ZNF74, CLTCL1, GJA1, TBX1, EDN1, ACP6
8conotruncal anomaly face syndrome28.5UFD1L, TBX1, DGCR
9velocardiofacial syndrome28.0ZNF74, CLTCL1, UFD1L, TBX1, HIRA, DGCR
10digeorge syndrome27.3ZNF74, CLTCL1, UFD1L, MTHFR, TBX1, HIRA
11cerebral infarction25.8MTHFR, MMP3, MMP9, IL6, APOE, ENO2
12polyneuropathy25.2MMP9, IL6, APOE, CAT, DBH, SOD1
13silicosis24.8IL6, IL8, CAT, SOD1
14blindness23.9REN, MTHFR, MMP9, IL6, IL8, APOE
15fibrosis23.0REN, BBS1, BBS7, MTHFR, S100A1, MMP3
16purpura23.0MTHFR, JAG1, MMP9, IL6, IL8, F5
17nasopharyngitis22.7MTHFR, MMP3, MMP9, IL6, IL8, ENO2
18amyotrophic lateral sclerosis22.6MTHFR, MMP3, MMP9, FEZF2, IL8, APOE
19hypoxia22.5REN, CITED2, MMP3, MMP9, IL6, IL8
20ovarian carcinoma22.3MTHFR, S100A1, MMP9, IL6, IL8, ENO2
21osteosarcoma22.2MTHFR, S100A1, MMP9, IL6, IL8, FBN1
22lateral sclerosis22.2MTHFR, MMP3, MMP9, FEZF2, IL8, APOE
23cystic fibrosis21.8REN, MMP9, IL6, IL8, F5, CAT
24breast cancer21.6CITED2, BBS4, MTHFR, S100A1, JAG1, MMP3
25pancreatic cancer21.3REN, MTHFR, MMP9, IL6, IL8, ENO2
26cerebritis21.3REN, BBS2, BBS4, MTHFR, JAG1, MMP3
27alzheimer's disease19.8REN, MTHFR, JAG1, MMP3, MMP9, IL6
28arthritis19.7MTHFR, S100A1, JAG1, MMP3, MMP9, MKKS
29carcinoma19.6REN, ZFPM2, MTHFR, S100A1, JAG1, MMP3
30gastric cancer19.4CITED2, UFD1L, MTHFR, S100A1, JAG1, MMP3
31cholesterol19.3REN, UFD1L, MTHFR, MMP3, MMP9, IL6
32hepatitis18.8REN, MTHFR, S100A1, JAG1, MMP3, MMP9
33pancreatitis18.2REN, MTHFR, S100A1, MMP3, MMP9, IL6
34conotruncal heart malformations13.9CFC1, TBX1, GDF1
35faces syndrome13.8UFD1L, TBX1, DGCR
36congenital heart block13.8NPPB, NKX2-5, GATA4
37ebstein anomaly13.7TBX1, NPPB, NKX2-5, GATA4
38meckel syndrome13.7BBS1, BBS2, BBS4, BBS7, MKKS
39pulmonary valve stenosis13.6CLTCL1, JAG1, HIRA
40pigmentary retinopathy13.6BBS1, BBS2, BBS4, BBS7, MKKS
41hypoplastic left heart syndrome13.6GJA1, SMYD1, NKX2-5
42bardet-biedl syndrome13.6BBS1, BBS2, BBS4, BBS7, MKKS
43double outlet right ventricle13.6VANGL2, ZFPM2, CFC1, TBX1, NKX2-5, GATA4
44mitral valve insufficiency13.5FBN1, NPPA, NPPB
45retinal disease13.5BBS1, BBS2, BBS4, BBS7, MKKS
46cerebral arteriosclerosis13.4CALCA, EDN1
47postural hypotension13.4REN, DBH, NPPA
48carcinoid tumor of lung13.4ENO2, CALCA, NPY
49renal hypertension13.3REN, EDN1, DBH
50postural orthostatic tachycardia syndrome13.3REN, NDUFS4, DBH

Graphical network of the top 20 diseases related to tetralogy of fallot:



Graphical network of diseases related to tetralogy of fallot

Clinical Features for Tetralogy of Fallot

Sources:
33OMIM
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Clinical features from OMIM: 187500

Drugs & Therapeutics for Tetralogy of Fallot

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for tetralogy of fallot

Drug clinical trials:

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Genetic Tests for Tetralogy of Fallot

Anatomical Context for Tetralogy of Fallot

Sources:
22MalaCards
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MalaCards organs/tissues related to tetralogy of fallot:

22
Brain, Heart, Lung, Skin, T cells, B cells

Phenotypes for genes affiliated with Tetralogy of Fallot

Sources:
25MGI
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MGI Mouse Phenotypes related to tetralogy of fallot:

25 (show all 26)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1taste/olfaction phenotypeMP:00053949.9ENO2, MKKS, BBS4, BBS2, BBS1
2hematopoietic system phenotypeMP:00053979.6GDF1, GATA4, NKX2-5, TOP3B, TBX1, GJA1
3endocrine/exocrine gland phenotypeMP:00053799.6GDF1, DBH, TOP3B, TBX1, GJA1, BBS4
4renal/urinary system phenotypeMP:00053679.2FBN1, APOE, TOP3B, NPPA, GDF1, JAG1
5embryogenesis phenotypeMP:00053809.0HIRA, TFAP2C, NKX2-5, HAND1, GATA6, GATA4
6integument phenotypeMP:00107718.9NDUFS4, TOP3B, DBH, NKX2-5, GATA4, TBX1
7no phenotypic analysisMP:00030128.8GATA4, NKX2-5, HIRA, TBX1, GJA1, FBN1
8craniofacial phenotypeMP:00053828.6TBX1, EDN1, HEY2, HIRA, NKX2-5, HAND1
9hearing/vestibular/ear phenotypeMP:00053778.4TBX1, CYBA, NTRK3, EDN1, SOD1, GJA1
10liver/biliary system phenotypeMP:00053708.3GDF1, GATA4, GATA6, SOD1, HEY2, IL6
11limbs/digits/tail phenotypeMP:00053718.3FBN1, APOE, GJA1, TBX1, HAND1, MKKS
12normal phenotypeMP:00028738.2PKIA, NDUFS4, TFAP2C, NPY, NKX2-5, HAND1
13respiratory system phenotypeMP:00053888.0GDF1, BBS4, BBS1, CITED2, ZFPM2, VANGL2
14skeleton phenotypeMP:00053907.7GDF1, NDUFS4, TBX1, GJA1, CALCA, IL6
15digestive/alimentary phenotypeMP:00053817.7APOE, TBX1, EDN1, TOP3B, NPY, GATA4
16reproductive system phenotypeMP:00053897.4FBN1, GJA1, TOP3B, ADIPOQ, GATA4, IL6
17nervous system phenotypeMP:00036316.9GDF1, FEZF2, MKKS, MTHFR, BBS7, BBS4
18vision/eye phenotypeMP:00053916.7IL6, APOE, GJA1, NTRK3, NDUFS4, DBH
19behavior/neurological phenotypeMP:00053866.1F5, CALCA, GJA1, TBX1, CYBA, NTRK3
20cellular phenotypeMP:00053845.6SMYD1, NDUFS4, TOP3B, SOD1, NKX2-5, ADIPOQ
21immune system phenotypeMP:00053875.6GJA1, TBX1, CYBA, NDUFS4, TOP3B, SOD1
22muscle phenotypeMP:00053695.5SMYD1, TBX1, GJA1, APOE, FBN1, IL6
23growth/size phenotypeMP:00053785.4HIRA, HEY2, NDUFS4, SMYD1, NTRK3, TFAP2C
24mortality/agingMP:00107684.9HEY2, EDN1, SMYD1, NTRK3, TBX1, GJA1
25cardiovascular system phenotypeMP:00053853.8GDF1, GATA4, GATA6, HAND1, ADIPOQ, NKX2-5
26homeostasis/metabolism phenotypeMP:00053763.4HIRA, HEY2, EDN1, NDUFS4, TBX1, GJA1

Publications for genes affiliated with Tetralogy of Fallot

Sources:
35PubMed
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Articles related to tetralogy of fallot:

(show all 43)
idTitleAuthorsYearAffiliating Genes
1Investigation of somatic NKX2-5, GATA4 and HAND1 muta tions in patients with tetralogy of Fallot. (21519287)Wang J.... Fu Q.2011GATA4, HAND1, NKX2-5
2Somatic mutations in NKX2a895, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart. (22043484)Esposito G.... Winlaw D.S.2011GATA4, HAND1, NKX2-5
3Systematic survey of variants in TBX1 in non-syndromi c tetralogy of Fallot identifies a novel 57 base pair deletion that reduces tra nscriptional activity but finds no evidence for association with common variant s. (20937753)Griffin H.R.... Goodship J.A.2010TBX1
4Modulating effects of matrix metalloproteinase-3 and -9 polymorphisms on aortic stiffness and aortic root dilation in patients after tetralogy of Fallot repair. (20541269)Cheung Y.F.... Wong S.J.2010MMP3, MMP9
5A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect. (20631719)Lin X.... Chen Y.H.2010GATA6
6Comprehensive genotype-phenotype analysis in 230 pati ents with tetralogy of Fallot. (19948535)Rauch R.... Rauch A.2010JAG1, TBX1, NKX2-5
7Diffuse cerebral infarct associated with factor V Lei den and prothrombin 20210A mutations in a patient with tetralogy of Fallot. (18550588)Sipahi T.... Akar N.2009F5
8The tetralogy of Fallot-associated G274D mutation imp airs folding of the second epidermal growth factor repeat in Jagged-1. (19780835)Guarnaccia C.... Pongor S.2009JAG1
9Assessment of biventricular functional reserve and NT -proBNP levels in patients with RV volume overload after repair of tetralogy of Fallot at young age. (18495276)van den Berg J.... Helbing W.A.2009NPPB
10Tetralogy of fallot as a model to study cardiac proge nitor cell migration and differentiation during heart development. (19818949)Di Felice V.... Zummo G.2009NKX2-5
11Genetic screening of the canine zinc finger protein m ultitype 2 (cZFPM2) gene in dogs with tetralogy of Fallot (TOF). (19630881)Lee J.S.... Hyun C.2009ZFPM2
12The methylenetetrahydrofolate reductase gene variant (C677T) as a susceptibility gene for tetralogy of Fallot. (19894660)Marinho C.... Bicho M.2009MTHFR
13Effect of captopril on pulmonary artery pressure foll owing corrective surgery for tetralogy of fallot. (19740297)Ma Z.S.... Wang L.X.2009EDN1
14Decreased expression of neurotrophic tyrosine receptor kinase 3 is associated with the outflow tract defect of human tetralogy of Fallot. (19187638)Kong B.... LA1 X.D.2009NTRK3
15Role of fibrillin-1 genetic mutations and polymorphism in aortic dilatation in patients undergoing intracardiac repair of tetralogy of Fallot. (18805282)Chowdhury U.K.... Subramaniam G.K.2008FBN1
16Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. (18179924)Zeltser I.... Gaynor J.W.2008APOE
17Evaluation of right ventricular functions and B-type natriuretic peptide levels by cardiopulmonary exercise test in patients with pulmonary regurgitation after repair of tetralogy of Fallot. (18928486)Cetin I.... AA9lamaci S.2008NPPB
18Amino-terminal fragment of pro-brain natriuretic hormone identifies functional impairment and right ventricular overload in operated tetralogy of Fallot patients. (17607499)Festa P.... Passino C.2007NPPB
19Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot. (18034999)Erdal E.... Acikel U.2007VANGL2
20Metabolic derangements in an adult patient with tetralogy of Fallot: possible role of chronic systemic hypoxia. (18030188)Harada E.... Masuzaki H.2007ADIPOQ
21Polymorphism C242T of the gene of the p22phox subunit for nicotinamide adenine dinucleotide phosphate oxidase, and erythrocytic antioxidant enzymes, in patients with tetralogy of Fallot. (17445342)Guerra A.... Bicho M.2007CYBA
22Plasma brain natriuretic peptide levels, right ventricular volume overload and exercise capacity in adolescents after surgical repair of tetralogy of Fallot. (17182138)Cheung E.W.... Cheung Y.F.2007NPPB
23A prospective, randomized, double-blind, placebo controlled trial of beta-blockade in patients who have undergone surgical correction of tetralogy of Fallot. (17572925)Norozi K.... Buchhorn R.2007NPPB, NPPA
24N-terminal pro-brain natriuretic peptide as a marker in follow-up patients with tetralogy of Fallot after total correction. (17607502)Khositseth A.... Attanawanich S.2007NPPB
25Effects of volume and/or pressure overload secondary to congenital heart disease (tetralogy of fallot or pulmonary stenosis) on right ventricular function using cardiovascular magnetic resonance and B-type natriuretic peptide levels. (16563914)Oosterhof T.... Mulder B.J.2006NPPB
26A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. (16470721)Nemer G.... Bitar F.2006GATA4
27Ventricular fibrosis suggested by cardiovascular magnetic resonance in adults with repaired tetralogy of fallot and its relationship to adverse markers of clinical outcome. (16432072)Babu-Narayan S.V.... Gatzoulis M.A.2006NPPB, NPPA
28The expression of connexin 43 in children with Tetralogy of Fallot. (16010294)Kol/cz J.... Malec E.2005GJA1
29Plasma N-terminal pro-brain natriuretic peptide as a marker of right ventricular dysfunction in patients with tetralogy of Fallot after surgical repair. (16236924)Norozi K.... Wessel A.2005REN, EDN1, NPPB
30Usefulness of exercise-induced changes in plasma levels of brain natriuretic peptide in predicting right ventricular contractile reserve after repair of tetralogy of Fallot. (15904640)Ishii H.... Takada G.2005NPPB
31A female with complete lack of Mullerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)Slavotinek A.M.... Stratton P.2004BBS4, BBS2, MKKS
32Lung perfusion with protective solution relieves lung injury in corrections of Tetralogy of Fallot. (14992899)Wei B.... Ruan Y.2004IL6, IL8
33Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. (14517948)Pizzuti A.... Dallapiccola B.2003ZFPM2
34Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. (12372254)Donovan J.... Utset M.F.2002JAG1, HEY2
35Familial tetralogy of Fallot caused by mutation in the Jagged1 gene. (11152664)Eldadah Z.A.... Dietz H.C.2001JAG1
36NKX2.5 mutations in patients with tetralogy of fallot. (11714651)Goldmuntz E.... Benson D.W.2001NKX2-5
37Molecular characterization of tetralogy of fallot within Digeorge critical region of the chromosome 22. (11455393)Lu J.H.... Lu J.K.2001UFD1L, HIRA
38Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot. (11485030)Chung M.Y.... Hwang B.2001UFD1L
39Plasma 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)Hayabuchi Y.... Kuroda Y.1999NPPB, NPPA
40Expression 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)Jegadeesh Babu G.... Rajamanickam C.1994HSPA14
41Mitochondrial respiratory chain enzyme activities in tetralogy of Fallot. (8086770)Maurer I.... Zierz S.1994NDUFS4
42Effect of oxygen tension and cardiovascular operations on the myocardial antioxidant enzyme activities in patients with tetralogy of Fallot and aorta-coronary bypass. (1614202)Teoh K.H.... Williams W.G.1992SOD1, CAT
43Determination of infundibular innervation and amine receptor content in cyanotic and acyanotic myocardium: relation to clinical events in tetralogy of Fallot. (1652127)McGrath L.B.... Levett J.M.1991ENO2, DBH, CALCA

Expression for genes affiliated with Tetralogy of Fallot

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Tetralogy of Fallot

Pathways for genes affiliated with Tetralogy of Fallot

Sources:
36QIAGEN
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Pathways related to tetralogy of fallot according to GeneDecks:

idPathwayScoreTop Affiliating Genes
1HOP Signaling3610.1NPPA, NKX2-5, GATA4
2Cardiomyocyte Differentiation through BMP Receptors369.7NPPA, NPPB, NKX2-5, GATA4

Compounds for genes affiliated with Tetralogy of Fallot

Sources:
32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB, 42Tocris Bioscience
See all sources

Compounds related to tetralogy of fallot according to GeneDecks:

(show top 50)    (show all 135)
idCompoundScoreTop Affiliating Genes
1ascorbic acid32 18 11.5FBN1, DBH
2apocynin32 10.1CAT, NDUFS4, CYBA
3vanillylmandelic acid32 18 11.1ALDH3B2, ENO2, REN, DBH
4urodilatin32 10.0REN, NPPA, NPPB, EDN1
5trandolapril32 9 9 12.0REN, NPPA, NPPB, EDN1
6enalaprilat32 9.9NPPA, NPPB, REN, EDN1
7phosphoramidon32 9 9 11.8NPY, NPPA, NPPB, EDN1, CALCA
8toki-shakuyaku-san32 9.8EDN1, REN, NPPA
9hanp32 9.7REN, EDN1, NPPA, NPPB, ADIPOQ
10lisinopril32 9 18 9 12.7NPY, NPPB, REN, NPPA
11fosinopril32 9 9 11.7NPPB, NPPA, MMP9, REN
12carvedilol32 34 9 9 12.6EDN1, NPPA, REN, NDUFS4, GJA1, NPPB
13enalapril32 9 9 11.6EDN1, NPPA, NPPB, ADIPOQ, REN
14n acetylcysteine32 9.6MMP3, APOE, CYBA, MMP9
15omapatrilat32 9.6MMP9, EDN1, REN, NPPA
16spec-t32 9.6APOE, NPPA, ENO2, CALCA, NPPB
17sodium nitroprusside32 9.4NPPA, REN, CAT, NPY, NPPB, ADIPOQ
181,3-dimethyl-2-thiourea32 9.4CAT, SOD1, EDN1
19carbenoxolone32 9 9 11.3EDN1, GJA1, IL6, REN
20oxygen32 18 10.2NDUFS4, GJA1, FBN1, MMP3, DBH, NPPA
21epinephrine32 9 18 9 12.2NPPA, NPY, NPPB, MMP9, F5, DBH
22acth32 9.1DBH, GJA1, NPY, IL6, REN
23l-nmma32 9.1CAT, NPPB, EDN1, SOD1, NPPA, MMP9
24losartan32 34 9 9 12.0NPPA, APOE, REN, NPPB, EDN1, ADIPOQ
25glutamate32 9.0MTHFR, MMP3, CALCA, MMP9, GJA1, NDUFS4
26forskolin32 42 9 9 11.8GATA4, CALCA, REN, MMP3, ENO2, NPPA
27homocysteine32 18 9.8APOE, F5, NPPB, ADIPOQ, FBN1, GJA1
28s-nitroso-n-acetylpenicillamine32 8.8IL8, CAT, GJA1, EDN1, NPPB, SOD1
29nifedipine32 9 9 10.7ADIPOQ, MMP9, GJA1, EDN1, NPPA, REN
30dopamine32 9 18 9 11.7NDUFS4, MTHFR, ADIPOQ, NPPA, DBH, REN
31uric acid32 18 9.7SOD1, CAT, ENO2, MTHFR, NPPB, F5
32acetylcholine32 9 18 9 11.5CALCA, S100A1, APOE, ADIPOQ, MMP3, NPY
33prostacyclin32 8.4APOE, REN, F5, EDN1, SOD1, NPPA
34gabexate mesilate32 8.4F5, IL6, IL8, MMP9
35testosterone32 9 18 9 11.1NPPB, CALCA, NTRK3, F5, MTHFR, MMP9
36atorvastatin32 34 9 18 9 12.1APOE, ADIPOQ, F5, NPPB, EDN1, IL6
37creatinine32 8.0NPY, NPPB, EDN1, F5, ENO2, MMP9
38indomethacin32 9 9 9.5SOD1, MMP3, NPY, EDN1, CALCA, CAT
398-isoprostane32 7.5EDN1, NPPB, ADIPOQ, MMP9, IL6, IL8
40norepinephrine32 9 18 9 10.4CALCA, NPY, NPPB, ADIPOQ, NPPA, DBH
41simvastatin32 34 42 9 18 9 12.4APOE, IL6, MMP9, MMP3, ADIPOQ, F5
42sb 20358032 42 8.3CAT, MMP9, MMP3, IL6, GJA1, EDN1
43cyclosporin a32 42 7.9CALCA, MMP9, IL6, IL8, APOE, EDN1
44pge232 6.9MMP3, MMP9, IL6, CALCA, GJA1, EDN1
45retinoic acid32 42 18 8.6GATA6, ADIPOQ, NPY, TFAP2C, GJA1, F5
46vegf32 6.3EDN1, NTRK3, GJA1, NPPB, IL8, F5
47lactate32 6.2CAT, ADIPOQ, IL6, MMP3, MMP9, IL8
48estrogen32 6.2MTHFR, NPPA, S100A1, MMP3, MMP9, IL6
49nitric oxide32 9 18 9 8.8NPPB, NDUFS4, EDN1, DBH, SOD1, NPPA
50alanine32 5.8FBN1, MTHFR, NPY, SOD1, DBH, GJA1

GO Terms for genes affiliated with Tetralogy of Fallot

Sources:
12Gene Ontology
See all sources

Cellular components related to tetralogy of fallot according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:03151410.2BBS2, BBS4, MKKS
2BBSomeGO:03446410.2BBS7, BBS4, BBS2, BBS1
3cilium membraneGO:0601709.9BBS7, BBS4, BBS2, BBS1
4extracellular spaceGO:0056155.6REN, GDF1, ADIPOQ, NPY, NPPB, SOD1
5extracellular regionGO:0055765.2EDN1, ACP6, DBH, SOD1, NPPA, NPPB

Biological processes related to tetralogy of fallot according to GeneDecks:

(show all 39)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cardioblast differentiationGO:05189110.6NKX2-5, GATA6, GATA4
2pigment granule aggregation in cell centerGO:05187710.6MKKS, BBS7, BBS4
3negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.6MKKS, BBS4, BBS2
4regulation of cilium beat frequency involved in ciliary motilityGO:06029610.6MKKS, BBS4, BBS2
5nonmotile primary cilium assemblyGO:03505810.5MKKS, BBS4, BBS1, VANGL2
6outflow tract septum morphogenesisGO:00314810.5ZFPM2, TBX1, NKX2-5, GATA6
7melanosome transportGO:03240210.5BBS2, BBS4, BBS7, MKKS
8determination of left/right symmetryGO:00736810.5TBX1, MKKS, CFC1, BBS7, CITED2
9photoreceptor cell maintenanceGO:04549410.5BBS1, BBS2, BBS4, MKKS
10striatum developmentGO:02175610.5MKKS, BBS4, BBS2
11trophectodermal cell differentiationGO:00182910.4HAND1, TFAP2C, CITED2
12cilium morphogenesisGO:06027110.4BBS2, BBS4, BBS7, MKKS
13brain morphogenesisGO:04885410.4MKKS, BBS4, BBS2
14cerebral cortex developmentGO:02198710.3NPY, TFAP2C, MKKS, BBS4, BBS2
15fat cell differentiationGO:04544410.3MKKS, BBS7, BBS4, BBS2
16cardiac muscle cell differentiationGO:05500710.3NKX2-5, GATA6, GATA4
17pulmonary artery morphogenesisGO:06115610.2HEY2, JAG1, CITED2
18retina homeostasisGO:00189510.2SOD1, BBS4, BBS1
19male gonad developmentGO:00858410.2GATA4, GATA6, TFAP2C, CITED2, REN
20cardiac septum morphogenesisGO:06041110.2HAND1, HEY2, JAG1
21atrial septum morphogenesisGO:06041310.1GATA4, NKX2-5, HEY2
22heart loopingGO:00194710.0VANGL2, GATA4, HAND1, NKX2-5, GJA1, MKKS
23ventricular septum morphogenesisGO:06041210.0NKX2-5, HEY2, CITED2, ZFPM2
24cardiac right ventricle morphogenesisGO:00321510.0GATA4, HEY2, JAG1
25intracellular transportGO:04690710.0BBS4, MKKS, APOE
26right ventricular cardiac muscle tissue morphogenesisGO:00322110.0NKX2-5, ZFPM2
27negative regulation of blood pressureGO:0457769.9ADIPOQ, NPY, CALCA, MKKS
28negative regulation of gene expressionGO:0106299.8HEY2, GJA1, MKKS, BBS2, CITED2
29superoxide anion generationGO:0425549.8SOD1, EDN1, CYBA
30positive regulation of cardiac muscle cell proliferationGO:0600459.7HEY2, GATA6, GATA4
31heart developmentGO:0075079.7HAND1, NPPB, EDN1, SMYD1, TBX1, GJA1
32vasculogenesisGO:0015709.7NKX2-5, HEY2, CITED2, ZFPM2
33regulation of blood pressureGO:0082179.6NPPB, NPPA, SOD1, CALCA, REN
34negative regulation of fat cell differentiationGO:0455999.4ZFPM2, JAG1, IL6, ADIPOQ
35negative regulation of transcription from RNA polymerase II promoterGO:0001229.4GATA6, HAND1, NKX2-5, HEY2, EDN1, PKIA
36negative regulation of transcription, DNA-dependentGO:0458929.1GATA6, HAND1, ADIPOQ, NKX2-5, HEY2, SMYD1
37response to hypoxiaGO:0016669.0ADIPOQ, NPPB, EDN1, CAT, MMP9, CITED2
38response to drugGO:0424938.9GATA4, GATA6, NPPB, SOD1, EDN1, ENO2
39positive regulation of transcription from RNA polymerase II promoterGO:0459448.7GATA4, GATA6, HAND1, NKX2-5, HEY2, TBX1

Molecular functions related to tetralogy of fallot according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor bindingGO:0081349.5GATA6, HAND1, NKX2-5, HEY2, ZFPM2, GATA4
2hormone activityGO:0051799.2ADIPOQ, NPPB, NPPA, EDN1, CALCA
3receptor bindingGO:0051028.5ADIPOQ, NPY, NPPB, NPPA, GJA1, CALCA
4protein homodimerization activityGO:0428038.3HAND1, ADIPOQ, NKX2-5, SOD1, TBX1, CAT
5protein bindingGO:0055154.6GATA4, CALCA, GJA1, CYBA, SNX8, EIF3B

Sources for Tetralogy of Fallot

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS