MCID: DBL002
MIFTS: 57

Double Outlet Right Ventricle

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Double Outlet Right Ventricle

MalaCards integrated aliases for Double Outlet Right Ventricle:

Name: Double Outlet Right Ventricle 12 73 20 29 6 44 15 32
Double Outlet Right Ventricle with Subpulmonary Ventricular Septal Defect 12 58
Double Outlet Right Ventricle with Transposition of the Great Arteries 58
Taussig-Bing Syndrome or Defect 12
Dextrotransposition of Aorta 12
Dorv with Subpulmonary Vsd 58
Taussig-Bing Syndrome 58
Dorv-Tga 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Double Outlet Right Ventricle

MalaCards based summary : Double Outlet Right Ventricle, also known as double outlet right ventricle with subpulmonary ventricular septal defect, is related to conotruncal heart malformations and ventricular septal defect. An important gene associated with Double Outlet Right Ventricle is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Mesodermal Commitment Pathway. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include heart, thymus and smooth muscle, and related phenotypes are double outlet right ventricle and cyanosis

Wikipedia : 73 Double outlet right ventricle (DORV) is a form of congenital heart disease where both of the great... more...

Related Diseases for Double Outlet Right Ventricle

Diseases related to Double Outlet Right Ventricle via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 194)
# Related Disease Score Top Affiliating Genes
1 conotruncal heart malformations 33.5 ZFPM2-AS1 ZFPM2 TBX1 NKX2-6 NKX2-5 GDF1
2 ventricular septal defect 32.9 ZIC3 ZFPM2 NKX2-6 NKX2-5 ISL1 HAND1
3 congenital heart defects, multiple types, 6 32.8 GDF1 CERS1
4 vertebral anomalies and variable endocrine and t-cell dysfunction 32.7 TBX2 TBX1
5 congenital heart defects, multiple types, 4 32.5 GATA6 GATA4
6 heart septal defect 32.3 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-5
7 dextro-looped transposition of the great arteries 31.9 ZIC3 TBX1 NKX2-5 GDF1 GATA4 CFC1
8 heterotaxy 31.6 ZIC3 GDF1 CFC1 CERS1
9 patent ductus arteriosus 1 31.5 ZIC3 ZFPM2 TBX20 TBX1 NKX2-5 GATA6
10 atrial heart septal defect 31.4 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-5
11 atrioventricular septal defect 31.4 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-5
12 tetralogy of fallot 31.4 ZIC3 ZFPM2-AS1 ZFPM2 TBX20 TBX2 TBX1
13 visceral heterotaxy 31.2 ZIC3 GDF1 CFC1 CERS1
14 right atrial isomerism 31.2 ZIC3 TBX20 NKX2-5 GDF1 CFC1 CERS1
15 pulmonary valve stenosis 31.2 ZIC3 TBX20 TBX2 NKX2-5 GATA4 CFC1
16 diaphragmatic hernia 3 31.0 ZFPM2-AS1 ZFPM2
17 tricuspid atresia 31.0 ZIC3 ZFPM2 TBX20 TBX1 NKX2-5 MESP1
18 diaphragmatic hernia, congenital 31.0 ZFPM2-AS1 ZFPM2 GPC3 GATA6 GATA4
19 patent foramen ovale 30.9 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-5
20 46,xy partial gonadal dysgenesis 30.8 ZFPM2-AS1 ZFPM2 GATA4
21 46,xy sex reversal 9 30.8 ZFPM2-AS1 ZFPM2 GATA4
22 jacobsen syndrome 30.8 ZIC3 TBX20 NKX2-5 GATA4
23 hypoplastic left heart syndrome 30.8 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-5
24 aortic valve disease 1 30.6 TBX20 TBX2 TBX1 NKX2-5 ISL1 GATA6
25 heart disease 30.6 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
26 holt-oram syndrome 30.6 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
27 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 11.6
28 ritscher-schinzel syndrome 1 11.5
29 double outlet right ventricle with subaortic or doubly committed ventricular septal defect 11.5
30 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 11.5
31 beemer lethal malformation syndrome 11.5
32 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 11.5
33 cardiac, facial, and digital anomalies with developmental delay 11.3
34 critical congenital heart disease 11.3
35 cyanosis, transient neonatal 10.8
36 dextrocardia 10.8
37 pulmonic stenosis 10.7
38 subvalvular aortic stenosis 10.7
39 complete atrioventricular canal 10.7
40 situs inversus 10.7
41 single ventricular heart 10.6
42 mitral valve stenosis 10.5
43 aortopulmonary window 10.5
44 pulmonary hypertension 10.5
45 atrioventricular block 10.5
46 chromosomal triplication 10.5
47 isolated congenitally uncorrected transposition of the great arteries 10.5 ZIC3 CFC1
48 thoracoabdominal syndrome 10.5
49 tricuspid valve insufficiency 10.5
50 double discordia 10.5

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



Diseases related to Double Outlet Right Ventricle

Symptoms & Phenotypes for Double Outlet Right Ventricle

Human phenotypes related to Double Outlet Right Ventricle:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 double outlet right ventricle 31 obligate (100%) HP:0001719
2 cyanosis 31 hallmark (90%) HP:0000961
3 failure to thrive 31 frequent (33%) HP:0001508
4 depressed nasal bridge 31 frequent (33%) HP:0005280
5 hypertelorism 31 frequent (33%) HP:0000316
6 short stature 31 frequent (33%) HP:0004322
7 intellectual disability, mild 31 frequent (33%) HP:0001256
8 hypoplastic left heart 31 frequent (33%) HP:0004383
9 narrow mouth 31 frequent (33%) HP:0000160
10 ventricular septal defect 31 frequent (33%) HP:0001629
11 pulmonic stenosis 31 frequent (33%) HP:0001642
12 feeding difficulties 31 frequent (33%) HP:0011968
13 tachycardia 31 frequent (33%) HP:0001649
14 submucous cleft hard palate 31 frequent (33%) HP:0000176
15 tachypnea 31 frequent (33%) HP:0002789
16 narrow palpebral fissure 31 frequent (33%) HP:0045025
17 heart murmur 31 frequent (33%) HP:0030148
18 abnormality of cartilage of external ear 31 frequent (33%) HP:3000022
19 coarctation of aorta 31 occasional (7.5%) HP:0001680
20 aplasia/hypoplasia of the thymus 31 occasional (7.5%) HP:0010515
21 tetralogy of fallot 31 occasional (7.5%) HP:0001636
22 hypoparathyroidism 31 occasional (7.5%) HP:0000829
23 truncus arteriosus 31 occasional (7.5%) HP:0001660
24 intestinal malrotation 31 occasional (7.5%) HP:0002566
25 hypocalcemia 31 occasional (7.5%) HP:0002901
26 pulmonary artery atresia 31 occasional (7.5%) HP:0004935
27 heterotaxy 31 occasional (7.5%) HP:0030853

MGI Mouse Phenotypes related to Double Outlet Right Ventricle:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 GATA4 GATA6 GDF1 GPC3 HAND1 ISL1
2 cellular MP:0005384 10.42 CERS1 GATA4 GATA6 GDF1 GPC3 HAND1
3 growth/size/body region MP:0005378 10.37 CERS1 GATA4 GATA6 GDF1 GPC3 HAND1
4 embryo MP:0005380 10.36 GATA4 GATA6 GDF1 GPC3 HAND1 ISL1
5 homeostasis/metabolism MP:0005376 10.31 CERS1 GATA4 GATA6 GPC3 HAND1 ISL1
6 craniofacial MP:0005382 10.28 GDF1 GPC3 HAND1 ISL1 MEF2C MESP1
7 mortality/aging MP:0010768 10.27 CERS1 GATA4 GATA6 GDF1 GPC3 HAND1
8 digestive/alimentary MP:0005381 10.22 GATA4 GDF1 GPC3 HAND1 ISL1 MEF2C
9 hematopoietic system MP:0005397 10.2 CERS1 GATA4 GATA6 GDF1 GPC3 MEF2C
10 limbs/digits/tail MP:0005371 10.06 GATA4 GATA6 GPC3 HAND1 ISL1 MEF2C
11 muscle MP:0005369 10.02 GATA4 GATA6 HAND1 ISL1 MEF2C MESP1
12 nervous system MP:0003631 10 CERS1 GATA4 GDF1 HAND1 ISL1 MEF2C
13 normal MP:0002873 10 GATA4 GATA6 GDF1 HAND1 ISL1 MEF2C
14 hearing/vestibular/ear MP:0005377 9.95 HAND1 ISL1 MEF2C MESP1 TBX1 ZIC3
15 respiratory system MP:0005388 9.73 GATA4 GATA6 GDF1 GPC3 HAND1 MEF2C
16 skeleton MP:0005390 9.28 GATA4 GDF1 GPC3 HAND1 ISL1 MEF2C

Drugs & Therapeutics for Double Outlet Right Ventricle

Drugs for Double Outlet Right Ventricle (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved 1401-55-4
2
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
3 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TEE-guided Perventricular Device Closure Through Minithoracotomy vs Traditional Surgery Repair Via CBP in Treatment of Infundibular Ventricular Septal Defect:A Two-center Clinical Randomized Controlled Trial Completed NCT02361008
2 Genes Causing Congenital Ebstein's Anomaly Completed NCT00497705
3 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
4 Surgical Planning for Reconstruction of Complex Heart Defects Recruiting NCT00972608
5 Clinical Impact of Rapid Prototyping 3D Models of Congenital Heart Disease on Surgical Management Withdrawn NCT04788082

Search NIH Clinical Center for Double Outlet Right Ventricle

Cochrane evidence based reviews: double outlet right ventricle

Genetic Tests for Double Outlet Right Ventricle

Genetic tests related to Double Outlet Right Ventricle:

# Genetic test Affiliating Genes
1 Double Outlet Right Ventricle 29

Anatomical Context for Double Outlet Right Ventricle

MalaCards organs/tissues related to Double Outlet Right Ventricle:

40
Heart, Thymus, Smooth Muscle, Endothelial, Trachea, Spleen, Skeletal Muscle

Publications for Double Outlet Right Ventricle

Articles related to Double Outlet Right Ventricle:

(show top 50) (show all 1688)
# Title Authors PMID Year
1
Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. 61 6
21919901 2012
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 61 6
20807224 2011
3
NKX2.5 mutations in patients with congenital heart disease. 6 61
14607454 2003
4
Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia. 6
24702427 2015
5
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 6
17924340 2007
6
Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. 6
17568391 2007
7
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. 6
14517948 2003
8
Perioperative management of Fontan operation for the child with panhypopituitarism: a case report. 61
33449198 2021
9
Prenatal diagnosis of double-outlet right ventricle with tricuspid valve atresia, anomalous pulmonary vein connection, persistent left superior vena cava, and right atrial isomerism. 61
32880971 2021
10
[Absence of arterial duct in fetus: an autopsy analysis]. 61
33677884 2021
11
Myocardium-Specific Deletion of Rac1 Causes Ventricular Noncompaction and Outflow Tract Defects. 61
33804107 2021
12
Repeated pregnancies in uncorrected double outlet right ventricle: a rare occurrence. 61
33722336 2021
13
[Coherent mapping in adults with congenital heart disease : Role of the novel coherent mapping technique for treatment of atrial tachycardia in adults with congenital heart disease]. 61
33231739 2021
14
Prenatal Diagnosis of Double Aortic Arch: Associated Findings and Postnatal Clinical Outcomes. 61
33656187 2021
15
3D/4D spatiotemporal image correlation (STIC) fetal echocardiography provides incremental benefit over 2D fetal echocardiography in predicting postnatal surgical approach in double-outlet right ventricle. 61
32022380 2021
16
Modeling Tool for Rapid Virtual Planning of the Intracardiac Baffle in Double Outlet Right Ventricle. 61
33689734 2021
17
Anomalous origin of left subclavian artery from ascending aorta in a right aortic arch: A case report with review of literature. 61
33442902 2021
18
Percutaneous mitral valve repair in adults with congenital heart disease: Report of the first case-series. 61
32898313 2021
19
Quantitative Assessment of 3D Printed Model Accuracy in Delineating Congenital Heart Disease. 61
33673159 2021
20
Epidemiology of adult congenital heart disease among the general population in Kuwait. 61
33565125 2021
21
Right atrial isomerism diagnosed by STIC-HD live flow and autopsy: A case report. 61
33663125 2021
22
Cardiac CT in criss-cross heart. 61
33614117 2021
23
Clinical Importance of Concomitant Cleft Lip/Palate in the Surgical Management of Patients With Congenital Heart Disease. 61
33407037 2021
24
Outcomes of pulmonary valve leaflet augmentation for transannular repair of tetralogy of Fallot. 61
33685734 2021
25
Embryonic Expression of NrasG 12 D Leads to Embryonic Lethality and Cardiac Defects. 61
33681212 2021
26
Individualized Surgical Reconstruction of the Right Ventricle Outflow Tract in Double Outlet Right Ventricle With Mirror Image-Dextrocardia. 61
33681097 2021
27
3D Modeling and Printing in Congenital Heart Surgery: Entering the Stage of Maturation. 61
33614554 2021
28
Predictors of Prolonged Pleural Effusion After the Extracardiac Fontan Procedure: A 8-Year Single-Center Experience in Resource-Scare Setting. 61
32970244 2021
29
Successful Modified Nikaidoh Procedure (Pivot Rotation) in a Patient with Double Outlet Right Ventricle and Pulmonary Atresia. 61
33767022 2021
30
Narrative review of assessing the surgical options for double outlet right ventricle. 61
33633949 2021
31
Double-root transfer and the half-turned truncal switch. 61
33603288 2021
32
Coxsackievirus B3 Infection Early in Pregnancy Induces Congenital Heart Defects Through Suppression of Fetal Cardiomyocyte Proliferation. 61
33440998 2021
33
Double-Outlet Right Ventricle in a Chianina Calf. 61
33513881 2021
34
Double-outlet right ventricle in a Vietnamese potbellied pig. 61
33137659 2020
35
Prenatal Diagnosis of Isolated Atrioventricular Discordance and Ventriculoarterial Concordance and Double-Outlet Right Ventricle in Situs Inversus: Case Report and Review of the Literature. 61
32970245 2020
36
Incidence and Nutritional Management of Chylothorax after Surgery for Congenital Heart Diseases in Children. 61
33399533 2020
37
A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report. 61
33218365 2020
38
Imaging characteristics and associations in twisted atrioventricular connections on multidetector computed tomography angiography. 61
33111443 2020
39
A rare cause of abnormal pulmonary venous drainage: septum primum malposition. 61
32854792 2020
40
KLF13 loss-of-function variation contributes to familial congenital heart defects. 61
33215447 2020
41
Diagnostic performance of fetal intelligent navigation echocardiography (FINE) in fetuses with double-outlet right ventricle (DORV). 61
32642877 2020
42
Capture rate of congenital heart defects in the Pediatric Health Information System database. 61
32671976 2020
43
Half-turned truncal switch operation after single ventricle palliation in a patient with borderline left heart hypoplasia. 61
33036641 2020
44
The variety of phenotypes behind 'double outlet right ventricle': clinical and imaging presentations in four dogs and a cat. 61
32980747 2020
45
Mixed-reality view of cardiac specimens: a new approach to understanding complex intracardiac congenital lesions. 61
32613358 2020
46
Ablation for idiopathic left ventricular tachycardia in a patient with double outlet right ventricle who underwent Fontan operation: a case report. 61
33204969 2020
47
Lateral Heterotaxy Syndrome in a Newborn Caucasian Male. 61
33269136 2020
48
Highly atypical double barrel outlet to aorta in double inlet left ventricle, double outlet right ventricle. 61
30902580 2020
49
Delta-like ligand 4-mediated Notch signaling controls proliferation of second heart field progenitor cells by regulating Fgf8 expression. 61
32778568 2020
50
Visualization of 3D Models Through Virtual Reality in the Planning of Congenital Cardiothoracic Anomalies Correction: An Initial Experience. 61
32853059 2020

Variations for Double Outlet Right Ventricle

ClinVar genetic disease variations for Double Outlet Right Ventricle:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CERS1 , GDF1 NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr) SNV Pathogenic 6748 rs121434423 GRCh37: 19:18979725-18979725
GRCh38: 19:18868916-18868916
2 ZFPM2 NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) SNV Pathogenic 6128 rs121908601 GRCh37: 8:106431420-106431420
GRCh38: 8:105419192-105419192
3 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) SNV Pathogenic 39517 rs397514520 GRCh37: 8:106801094-106801094
GRCh38: 8:105788866-105788866
4 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) SNV Pathogenic 6130 rs121908603 GRCh37: 8:106814417-106814417
GRCh38: 8:105802189-105802189
5 ZFPM2-AS1 , ZFPM2 NM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) SNV Pathogenic 39519 rs397514521 GRCh37: 8:106814519-106814519
GRCh38: 8:105802291-105802291
6 NKX2-5 NM_004387.4(NKX2-5):c.865_867AAC[2] (p.Asn291del) Microsatellite Pathogenic 410969 rs756974215 GRCh37: 5:172659674-172659676
GRCh38: 5:173232671-173232673
7 MYCN NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu) SNV Uncertain significance 523483 rs1553371013 GRCh37: 2:16086050-16086050
GRCh38: 2:15945928-15945928

Expression for Double Outlet Right Ventricle

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

Pathways for Double Outlet Right Ventricle

GO Terms for Double Outlet Right Ventricle

Cellular components related to Double Outlet Right Ventricle according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-6
2 chromatin GO:0000785 9.4 ZFPM2 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
3 RNA polymerase II transcription factor complex GO:0090575 9.13 NKX2-5 HAND1 GATA4

Biological processes related to Double Outlet Right Ventricle according to GeneCards Suite gene sharing:

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.26 TBX20 TBX2 TBX1 NKX2-6 NKX2-5 MEF2C
2 cell differentiation GO:0030154 10.21 ZIC3 ZFPM2 NKX2-6 NKX2-5 MOSPD1 MEF2C
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.2 ZFPM2 TBX20 TBX2 NKX2-5 MOSPD1 MEF2C
4 positive regulation of transcription, DNA-templated GO:0045893 10.18 ZIC3 ZFPM2 TBX20 TBX1 NKX2-5 MESP1
5 regulation of transcription by RNA polymerase II GO:0006357 10.18 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-6
6 multicellular organism development GO:0007275 10.17 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
7 negative regulation of transcription, DNA-templated GO:0045892 10.13 ZFPM2 TBX20 TBX2 NKX2-5 MESP1 HAND1
8 positive regulation of cell proliferation GO:0008284 10.08 TBX2 TBX1 NKX2-6 NKX2-5 ISL1
9 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 ZIC3 ZFPM2 TBX20 TBX1 NKX2-6 NKX2-5
10 heart development GO:0007507 9.92 ZFPM2 TBX1 NKX2-6 NKX2-5 MEF2C ISL1
11 heart morphogenesis GO:0003007 9.89 TBX2 TBX1 NKX2-5 MESP1 ISL1
12 outflow tract morphogenesis GO:0003151 9.88 TBX20 TBX2 TBX1 MEF2C ISL1
13 Notch signaling pathway GO:0007219 9.87 TRAF7 TBX2 MESP1
14 anterior/posterior pattern specification GO:0009952 9.87 ZIC3 TBX1 CFC1
15 lung development GO:0030324 9.86 ZIC3 ZFPM2 GPC3
16 determination of left/right symmetry GO:0007368 9.85 ZIC3 TBX1 CFC1
17 vasculogenesis GO:0001570 9.84 ZFPM2 TBX20 NKX2-5
18 blood vessel development GO:0001568 9.84 TBX1 MEF2C CFC1
19 cardiac muscle cell differentiation GO:0055007 9.84 NKX2-5 MESP1 GATA6 GATA4
20 cell fate specification GO:0001708 9.83 TBX20 TBX2 TBX1
21 aortic valve morphogenesis GO:0003180 9.81 TBX20 NKX2-5 GATA4
22 pharyngeal system development GO:0060037 9.81 TBX1 NKX2-6 NKX2-5 ISL1
23 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 ZFPM2 TBX20 TBX2 MEF2C GATA6
24 cardiac muscle tissue development GO:0048738 9.79 ZFPM2 TBX2 GATA6
25 endocardial cushion morphogenesis GO:0003203 9.77 TBX20 TBX2 ISL1
26 smooth muscle cell differentiation GO:0051145 9.77 TBX2 MEF2C GATA6
27 atrial septum morphogenesis GO:0060413 9.76 TBX20 NKX2-5 ISL1 GATA4
28 cardiac right ventricle morphogenesis GO:0003215 9.75 TBX20 ISL1 GATA4
29 secondary heart field specification GO:0003139 9.74 MESP1 MEF2C ISL1
30 positive regulation of cardioblast differentiation GO:0051891 9.73 NKX2-5 GATA6 GATA4
31 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 ISL1 HAND1
32 thyroid gland development GO:0030878 9.7 TBX1 NKX2-5
33 aorta morphogenesis GO:0035909 9.69 TBX2 TBX1
34 cardiac muscle tissue morphogenesis GO:0055008 9.68 TBX20 NKX2-5
35 intestinal epithelial cell differentiation GO:0060575 9.68 GATA6 GATA4
36 ventricular cardiac muscle cell development GO:0055015 9.67 NKX2-6 NKX2-5
37 embryonic heart tube morphogenesis GO:0003143 9.67 TBX20 MESP1
38 cardiac cell fate determination GO:0060913 9.66 MESP1 ISL1
39 cardiac ventricle formation GO:0003211 9.65 MESP1 MEF2C
40 cardiac vascular smooth muscle cell differentiation GO:0060947 9.65 MESP1 GATA6
41 embryonic heart tube development GO:0035050 9.65 TBX20 TBX2 NKX2-6 NKX2-5 HAND1
42 atrial cardiac muscle cell development GO:0055014 9.64 NKX2-6 NKX2-5
43 visceral motor neuron differentiation GO:0021524 9.64 TBX20 ISL1
44 muscle cell fate determination GO:0007521 9.63 TBX2 MEF2C
45 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.62 ZFPM2 NKX2-5
46 outflow tract septum morphogenesis GO:0003148 9.5 ZFPM2 TBX20 TBX2 TBX1 NKX2-5 ISL1
47 heart looping GO:0001947 9.23 ZIC3 TBX20 TBX2 NKX2-5 MESP1 MEF2C

Molecular functions related to Double Outlet Right Ventricle according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.18 ZIC3 ZFPM2 TBX20 TBX2 TBX1 NKX2-6
2 sequence-specific DNA binding GO:0043565 10.01 ZIC3 TBX2 TBX1 NKX2-5 ISL1 HAND1
3 sequence-specific double-stranded DNA binding GO:1990837 9.97 ZIC3 TBX20 TBX2 TBX1 NKX2-5 MEF2C
4 DNA-binding transcription factor activity GO:0003700 9.96 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.93 ZIC3 TBX20 NKX2-6 MEF2C HAND1 GATA4
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.91 NKX2-5 MESP1 MEF2C HAND1 GATA6 GATA4
7 transcription factor binding GO:0008134 9.88 ZFPM2 NKX2-5 HAND1 GATA6 GATA4
8 protein dimerization activity GO:0046983 9.81 TBX1 MESP1 MEF2C HAND1
9 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.81 ZIC3 TBX20 NKX2-6 NKX2-5 MESP1 MEF2C
10 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5
11 proximal promoter sequence-specific DNA binding GO:0000987 9.7 MESP1 ISL1 GATA4
12 RNA polymerase II transcription factor binding GO:0001085 9.67 ZFPM2 TBX20 GATA4
13 bHLH transcription factor binding GO:0043425 9.55 ISL1 HAND1
14 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 9.54 NKX2-5 GATA4
15 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.4 ZIC3 TBX20 TBX2 TBX1 NKX2-6 NKX2-5

Sources for Double Outlet Right Ventricle

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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