TAC
MCID: DBL002
MIFTS: 60

Double Outlet Right Ventricle (TAC) malady

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

Summaries for Double Outlet Right Ventricle

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

MalaCards: Double Outlet Right Ventricle, also known as double outlet right ventricle with subpulmonary ventricular septal defect, is related to ventricular septal defect and persistent truncus arteriosus, and has symptoms including transposition of great vessels, tetralogy of fallot/trilogy of fallot and hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption. An important gene associated with Double Outlet Right Ventricle is GDF1 (growth differentiation factor 1), and among its related pathways are Signaling by NODAL and Notch-mediated HES/HEY network. The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include heart and bone, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:48 217095

Aliases & Classifications for Double Outlet Right Ventricle

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



Characteristics (Orphanet epidemiological data):

50
common aortico-pulmonary trunk:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
double outlet right ventricle:
Prevalence: 1-5/10000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

double outlet right ventricle 9 44 11 50
double outlet right ventricle with subpulmonary ventricular septal defect 9 50
conotruncal heart malformations 50 63
taussig-bing syndrome 9 50
cluster headaches and other trigeminal autonomic cephalgias 63
double outlet right ventricle, unspecified 9
double outlet right ventricle nos 9
common aortico-pulmonary trunk 50
double-outlet right ventricle 48
dextrotransposition of aorta 9
common arterial trunk 50
binge eating disorder 63
truncus arteriosus 50
dorv 50
tac 50


External Ids:

Disease Ontology9 DOID:6406
MeSH36 D004310
ICD9CM28 745.11
OMIM48 217095
UMLS via Orphanet64 C1857586, C0013069
SNOMED-CT via Orphanet60 61959006, 204299009, 7484005 448794008, more
ICD10 via Orphanet27 Q20.0, Q20.1
MESH via Orphanet37 D004310
ICD1026 Q20.0

Related Diseases for Double Outlet Right Ventricle

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18GeneCards, 19GeneDecks
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Diseases related to Double Outlet Right Ventricle via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1ventricular septal defect31.8GATA4, NKX2-5
2persistent truncus arteriosus31.8GATA6, NKX2-6
3tetralogy of fallot31.2ZFPM2, NKX2-5, GATA6, GATA4, GDF1
4atrioventricular septal defect31.2GATA4, NKX2-5
5situs inversus31.0ZIC3, GDF1
6congenital heart disease30.8GATA4, ZIC3
7conotruncal heart malformations30.7GATA6, TBX1, NKX2-6, GDF1
8holt-oram syndrome30.6TBX1
9velocardiofacial syndrome30.3TBX1, NKX2-6
10congenital diaphragmatic hernia30.3ZFPM2, GATA4
11transposition of the great arteries10.9
12pulmonic stenosis10.8
13complete atrioventricular canal10.8
14dextrocardia10.8
15double outlet right ventricle with subaortic ventricular septal defect10.7
16cor triatriatum10.7
17double outlet right ventricle with doubly committed ventricular septal defect10.7
18left ventricular outflow tract obstruction10.6
19aneurysm10.6
20double outlet right ventricle, fallot type10.6
21aortopulmonary window10.6
22heterotaxy10.6
23pentalogy of cantrell10.6
24double outlet right ventricle with non-committed subpulmonary ventricular septal defect10.6
25digeorge syndrome10.5
26aortic arch interruption10.5
27mitral atresia10.5
28criss-cross heart10.5
29cfc1-related conotruncal heart malformations10.4
30conotruncal heart malformations, variable10.4
31leukemia10.3
32eisenmenger syndrome10.3
33univentricular heart10.3
34right aortic arch10.3
35phenylketonuria10.3
36cornelia de lange syndrome10.3
37hypertrophic cardiomyopathy10.3
38tracheal stenosis10.3
39discrete subaortic stenosis10.3
40down syndrome10.3
41aortic aneurysm10.3
42congestive heart failure10.3
43endocarditis10.3
44hydrocephalus10.3
45hypertension10.3
46infective endocarditis10.3
47myotonic dystrophy10.3
48pulmonary embolism10.3
49subvalvular aortic stenosis10.3
50thrombocytopenia10.3

Graphical network of the top 20 diseases related to Double Outlet Right Ventricle:



Diseases related to double outlet right ventricle

Symptoms for Double Outlet Right Ventricle

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

217095

Clinical features from OMIM:

217095

Symptoms:

50
  • transposition of great vessels
  • tetralogy of fallot/trilogy of fallot
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • patent ductus arteriosus
  • insterstitial/subtelomeric microdeletion/deletion

Drugs & Therapeutics for Double Outlet Right Ventricle

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Double Outlet Right Ventricle

Drug clinical trials:

Search ClinicalTrials for Double Outlet Right Ventricle

Search NIH Clinical Center for Double Outlet Right Ventricle

Search CenterWatch for Double Outlet Right Ventricle

Genetic Tests for Double Outlet Right Ventricle

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Anatomical Context for Double Outlet Right Ventricle

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34MalaCards
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MalaCards organs/tissues related to Double Outlet Right Ventricle:

34
Heart, Bone

Animal Models for Double Outlet Right Ventricle or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Double Outlet Right Ventricle:

38 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7ZIC3, TBX1, DVL2, ISL1
2MP:00053718.4DVL2, PLXND1, GATA6, TBX1, ISL1, ZIC3
3MP:00053818.2GATA4, TBX1, ZIC3, ISL1, CFC1, GDF1
4MP:00053828.1TBX1, NKX2-5, GDF1, ISL1, DVL2, PLXND1
5MP:00053708.0GDF1, GATA6, ZIC3, ZFPM2, CFC1, GATA4
6MP:00053877.8ISL1, GDF1, CFC1, MYL12B, ZIC3, NKX2-5
7MP:00107717.7GATA4, ZFPM2, ISL1, TBX1, NKX2-5
8MP:00053907.7GATA4, ZIC3, CFC1, GDF1, DVL2, TBX1
9MP:00053797.6GATA4, TBX1, ZFPM2, ISL1, GDF1
10MP:00053977.5NKX2-5, TBX1, GATA6, GATA4, ZIC3, GDF1
11MP:00053697.3ISL1, NKX2-5, GATA6, TBX1, PLXND1, ZFPM2
12MP:00036317.3DVL2, PLXND1, GDF1, TBX1, ISL1, ZIC3
13MP:00053887.1NKX2-6, ZIC3, NKX2-5, TBX1, GATA6, CFC1
14MP:00053846.8NKX2-5, GATA4, GATA6, TBX1, GDF1, ISL1
15MP:00053806.7GATA6, GATA4, NKX2-5, TBX1, DVL2, GDF1
16MP:00053786.6CFC1, DVL2, ISL1, PLXND1, ZIC3, NKX2-6
17MP:00053766.6MYL12B, GATA4, GATA6, TBX1, NKX2-5, NKX2-6
18MP:00028736.1NKX2-6, GATA6, GATA4, NKX2-5, GDF1, ZIC3
19MP:00053855.9TBX1, CFC1, DVL2, ISL1, ZFPM2, PLXND1
20MP:00107685.8GATA4, PLXND1, ZIC3, NKX2-6, NKX2-5, TBX1

Publications for Double Outlet Right Ventricle

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53PubMed
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Articles related to Double Outlet Right Ventricle:

(show top 50)    (show all 360)
idTitleAuthorsYear
1
The phenotypic spectrum of ZIC3 mutations includes isolated d-transposition of the great arteries and double outlet right ventricle. (23427188)
2013
2
Anatomical repair of double outlet right ventricle associated with complete atrioventricular septal defect and pulmonary stenosis: extending the indications for aortic translocation. (22364399)
2012
3
Anesthetic management of tracheoesophageal fistula repair in a newborn with a double-outlet right ventricle. (22137517)
2011
4
Surgical management of left ventricular outflow tract obstruction after biventricular repair of double outlet right ventricle. (20191035)
2010
5
Double-root translocation for double-outlet right ventricle with noncommitted ventricular septal defect or double-outlet right ventricle with subpulmonary ventricular septal defect associated with pulmonary stenosis: an optimized solution. (20417745)
2010
6
Novel method for delivering the Amplatzer muscular VSD occluder in a patient with double outlet right ventricle after bidirectional Glenn procedure and pulmonary artery band. (19681125)
2009
7
22q11.2 microdeletion in a fetus with double-outlet right ventricle, pulmonary stenosis and a ventricular septal defect: prenatal diagnosis by array comparative genomic hybridization. (20045774)
2009
8
Ventricular non-compaction in the setting of double-outlet right ventricle (tetralogy of Fallot type) with doubly committed subarterial ventricular septal defect. (17435076)
2007
9
Accuracy of the fetal echocardiogram in double-outlet right ventricle. (18377514)
2007
10
Giant aortic aneurysm 18 years after repair of double-outlet right ventricle with pulmonary stenosis. (17062204)
2006
11
Optimal surgical repair for double outlet right ventricle and intact ventricular septum. (15854997)
2005
12
Atrial tachycardia ablation in a patient with double outlet right ventricle corrected by surgery. (15116454)
2004
13
The morphologic nature of noncommitted ventricular septal defects in specimens with double-outlet right ventricle. (12407383)
2002
14
Single-stage anatomical repair of complete atrioventricular canal, double-outlet right ventricle, and cor triatriatum using ventricular septal defect translocation. (11996287)
2002
15
Pregnancy after undergoing the Fontan procedure for a double outlet right ventricle: report of a case. (11871820)
2002
16
Double-outlet right ventricle: An echocardiographic approach. (11486183)
2000
17
An unusual case of double outlet right ventricle. (11016186)
2000
18
Around PediHeart: Double-Outlet Right Ventricle Versus Tetralogy of Fallot. (10982711)
2000
19
Double-outlet right ventricle: an antenatal diagnostic dilemma. (10623990)
1999
20
Intraventricular repair of double-outlet right ventricle with noncommitted ventricular septal defect: advantages of multiple patches. (10595979)
1999
21
Double-outlet right ventricle with nonrelated ventricular septal defect: surgical results using the multiple patches technique. (11276450)
1998
22
Double outlet right ventricle with intact atrial septum and restrictive ventricular septal defect: an analysis of two cases. (9770581)
1998
23
Echocardiography of the right ventricle-to-pulmonary artery homograft conduit of patients with transposition of the great arteries or double outlet right ventricle undergoing the Rastelli procedure. (9294916)
1997
24
Surgical approaches for double-outlet right ventricle or transposition of the great arteries associated with straddling atrioventricular valves. (8601966)
1996
25
Double-outlet right ventricle: morphologic demonstration using nuclear magnetic resonance imaging. (2050920)
1991
26
Oral prostaglandin E1 derivative (OP-1206) in an infant with double outlet right ventricle and pulmonary stenosis. Effect on ductus-dependent pulmonary circulation. (1774835)
1991
27
Mitral atresia with double outlet right ventricle in an asymptomatic adult. (2335403)
1990
28
Sudden death after repair of double-outlet right ventricle. (2297820)
1990
29
MR imaging of double-outlet right ventricle. (2783266)
1989
30
Exclusive double outlet right ventricle with atrioventricular concordance and pulmonary stenosis. Results of reconstructive surgery. (3272219)
1988
31
Modified Fontan procedure for biventricular hearts with complex forms of double-outlet right ventricle. (3180399)
1988
32
Progress in the understanding of congenital heart disease: double-outlet right ventricle {S,D,L}, definition of ventriculoarterial discordance, definition of transposition of the great arteries, and the illusion of crisscross AV relations. (15227249)
1988
33
Double outlet right ventricle with severe left ventricular outflow tract obstruction due to small ventricular septal defect and anomalous adherence of the mitral valve to the ventricular septum. (3437510)
1987
34
Double outlet right ventricle associated with common atrioventricular canal: report of nine anatomic specimens. (3734260)
1986
35
Double outlet right ventricle. Cross sectional echocardiographic findings, their anatomical explanation, and surgical relevance. (6743434)
1984
36
Disadvantageous closure of the interventricular communication in double outlet right ventricle. (6732997)
1984
37
Double-outlet right ventricle. Surgical results, 1970-1980. (6848885)
1983
38
Double outlet right ventricle: experimental morphogenesis in the chick embryo heart. (7155960)
1982
39
Repair of complete atrioventricular canal associated with tetralogy of Fallot or double-outlet right ventricle: report of 10 patients. (6987965)
1980
40
Caplike double-horned double-outlet right ventricle. Report of two cases. (154599)
1979
41
Double-outlet right ventricle. Anatomic and angiocardiographic correlations. (682686)
1978
42
Double-outlet right ventricle (S,D,D), VSD related to pulmonary artery, and pulmonic stenosis absent. Correction with an intraventricular conduit in infancy. (875443)
1977
43
Double outlet right ventricle with l-malposition and uncommitted ventricular septal defect. (1183465)
1975
44
Double outlet right ventricle with fibro-muscular obstruction to left ventricular outlet. (4709245)
1973
45
Communication of mitral valve with both ventricles associated with double outlet right ventricle. (4744796)
1973
46
Double-outlet right ventricle with left ventricular-right atrial communication: fibrous obstruction of left ventricular outlet by membranous septum and tricuspid leaflet tissue. (5075076)
1972
47
The double-outlet right ventricle. A palliative approach. (5099872)
1971
48
Surgical treatment of dextrocardia with inversion of ventricles and double-outlet right ventricle. (4170429)
1968
49
Double outlet right ventricle with pulmonary stenosis. (6020823)
1967
50
Obstructive ventricular septal defect in double outlet right ventricle. (6020317)
1967

Variations for Double Outlet Right Ventricle

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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 Double Outlet Right Ventricle:

65
id Symbol AA change Variation ID SNP ID
1GATA6p.Asn466HisVAR_067388
2GDF1p.Cys267TyrVAR_065335
3NKX2-6p.Phe151LeuVAR_063278
4TBX1p.Phe148TyrVAR_035025rs28939675

Clinvar genetic disease variations for Double Outlet Right Ventricle:

1
id Gene Name Type Significance SNP ID Assembly Location
1NKX2-6NM_001136271.2(NKX2-6): c.453_454insT (p.Lys152Terfs)insertionPathogenicGRCh37Chr 8, 23560416: 23560417
2ZFPM2NM_012082.3(ZFPM2): c.89A> G (p.Glu30Gly)single nucleotide variantPathogenicrs121908601GRCh37Chr 8, 106431420: 106431420
3ZFPM2NM_012082.3(ZFPM2): c.2107A> C (p.Met703Leu)single nucleotide variantPathogenicrs121908603GRCh37Chr 8, 106814417: 106814417
4NKX2-5NM_004387.3(NKX2-5): c.73C> T (p.Arg25Cys)single nucleotide variantBenign, Pathogenic, Uncertain significancers28936670GRCh37Chr 5, 172662014: 172662014

Expression for genes affiliated with Double Outlet Right Ventricle

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Double Outlet Right Ventricle

Search GEO for disease gene expression data for Double Outlet Right Ventricle.

Pathways for genes affiliated with Double Outlet Right Ventricle

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 54QIAGEN, 5Cell Signaling Technology
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Pathways related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0CFC1, GDF1
29.5GATA4, GATA6
39.4GATA4, NKX2-5
49.4NKX2-5, GATA4
5
Show member pathways
9.3GATA4, ISL1
69.3GATA6, NKX2-5, DVL2
7
Show member pathways
9.2GDF1, CFC1, MYL12B, PLXND1
8
Show member pathways
9.1NKX2-5, GATA6, GATA4
98.9GATA4, NKX2-5, ISL1
108.7GATA4, GATA6, ZFPM2
118.6ISL1, ZIC3, GATA6, GATA4
128.2GATA4, GATA6, TBX1, NKX2-5, ISL1

Compounds for genes affiliated with Double Outlet Right Ventricle

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46Novoseek, 25HMDB
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Compounds related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1zinc46 258.9GATA4, GATA6, NKX2-5, ZIC3, ZFPM2

GO Terms for genes affiliated with Double Outlet Right Ventricle

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17Gene Ontology
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Cellular components related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.1GATA4, GATA6, TBX1, NKX2-5, NKX2-6, ZIC3

Biological processes related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1atrial cardiac muscle cell developmentGO:05501410.1NKX2-5, NKX2-6
2ventricular cardiac muscle cell developmentGO:05501510.0NKX2-6, NKX2-5
3embryonic heart tube developmentGO:03505010.0NKX2-5, NKX2-6
4cardiac muscle cell differentiationGO:05500710.0NKX2-5, GATA6
5thyroid gland developmentGO:0308789.9NKX2-5, TBX1
6cochlea morphogenesisGO:0901039.9DVL2, TBX1
7intestinal epithelial cell differentiationGO:0605759.9GATA4, GATA6
8determination of left/right symmetryGO:0073689.9CFC1, ZIC3, TBX1
9cardiac muscle hypertrophy in response to stressGO:0148989.8GATA6, GATA4
10positive regulation of cardiac muscle cell proliferationGO:0600459.8GATA4, GATA6
11cardiac right ventricle morphogenesisGO:0032159.6GATA4, ISL1
12heart morphogenesisGO:0030079.6DVL2, NKX2-5, TBX1
13neural crest cell migrationGO:0017559.6TBX1, ISL1
14right ventricular cardiac muscle tissue morphogenesisGO:0032219.6NKX2-5, ZFPM2
15outflow tract morphogenesisGO:0031519.6TBX1, ISL1, DVL2
16positive regulation vascular endothelial growth factor productionGO:0105759.5ISL1, GATA4
17positive regulation of cardioblast differentiationGO:0518919.5NKX2-5, GATA6, GATA4
18response to estrogenGO:0436279.4GATA4, GATA6
19BMP signaling pathwayGO:0305099.4GATA4, NKX2-5
20ventricular septum morphogenesisGO:0604129.4NKX2-5, ZFPM2
21heart loopingGO:0019479.4GATA4, NKX2-5, ZIC3
22positive regulation of angiogenesisGO:0457669.3GATA4, GATA6, ISL1
23canonical Wnt signaling pathwayGO:0600709.3DVL2, NKX2-5, GATA4
24pharyngeal system developmentGO:0600379.3ISL1, NKX2-6, NKX2-5, TBX1
25atrial septum morphogenesisGO:0604139.3GATA4, NKX2-5, ISL1
26positive regulation of cell proliferationGO:0082849.2ISL1, NKX2-6, NKX2-5, TBX1
27vasculogenesisGO:0015708.9NKX2-5, ZFPM2
28in utero embryonic developmentGO:0017018.8ZFPM2, GATA6, GATA4
29positive regulation of transcription, DNA-templatedGO:0458938.6DVL2, ZIC3, NKX2-5, TBX1, GATA4
30negative regulation of transcription from RNA polymerase II promoterGO:0001228.5GATA6, NKX2-5, ZFPM2, ISL1
31outflow tract septum morphogenesisGO:0031488.4GATA6, TBX1, NKX2-5, ZFPM2, ISL1
32positive regulation of transcription from RNA polymerase II promoterGO:0459447.4ISL1, ZFPM2, ZIC3, NKX2-5, TBX1, GATA6

Molecular functions related to Double Outlet Right Ventricle according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1enhancer sequence-specific DNA bindingGO:0011589.3ISL1, GATA4
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.2GATA4, GATA6, NKX2-5
3transcription regulatory region DNA bindingGO:0442129.0GATA4, GATA6, NKX2-5
4RNA polymerase II transcription coactivator activityGO:0011058.8ISL1, ZFPM2
5chromatin bindingGO:0036828.6GATA4, GATA6, NKX2-5, ISL1
6sequence-specific DNA bindingGO:0435658.6NKX2-6, NKX2-5, TBX1, GATA4, ZIC3
7transcription factor bindingGO:0081348.4ZFPM2, NKX2-5, GATA4, GATA6
8sequence-specific DNA binding transcription factor activityGO:0037007.8ISL1, ZIC3, NKX2-6, NKX2-5, TBX1, GATA6
9protein bindingGO:0055156.6DVL2, GATA4, NKX2-5, ZIC3, PLXND1, MYL12B

Products for genes affiliated with Double Outlet Right Ventricle

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Sources for Double Outlet Right Ventricle

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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