Ventricular Septal Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: VNT002 MIFTS: 60	Ventricular Septal Defect Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Ventricular Septal Defect

MalaCards integrated aliases for Ventricular Septal Defect:

Name: Ventricular Septal Defect ¹² ⁷⁶ ³⁷ ²⁹ ⁶ ¹⁵

Heart Septal Defects, Ventricular ⁵³ ⁴⁴

Ventricular Septal Defects ⁵³ ⁵⁵

Interventricular Septal Defect ¹²

Ventricular Septal Abnormality ¹²

Septal, Ventricular Defect ⁴⁰

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Cardiovascular diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of cardiac septa

Ventricular septal defect

External Ids:

Disease Ontology ¹² DOID:1657

ICD10 ³³ Q21.0

ICD9CM ³⁵ 745.4

MeSH ⁴⁴ D006345

NCIt ⁵⁰ C84506

SNOMED-CT ⁶⁸ 30288003

KEGG ³⁷ H01926

UMLS ⁷³ C0018818

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Summaries for Ventricular Septal Defect

Disease Ontology : ¹² A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles.

MalaCards based summary : Ventricular Septal Defect, also known as heart septal defects, ventricular, is related to eisenmenger syndrome and tricuspid atresia. An important gene associated with Ventricular Septal Defect is TBX5 (T-Box 5), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Human Embryonic Stem Cell Pluripotency. The drugs Anti-Asthmatic Agents and Adrenergic beta-Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : ⁷⁶ A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and... more...

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Related Diseases for Ventricular Septal Defect

Diseases in the Ventricular Septal Defect family:

Ventricular Septal Defect 1	Ventricular Septal Defect 2
Ventricular Septal Defect 3

Diseases related to Ventricular Septal Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 273)

#	Related Disease	Score	Top Affiliating Genes
1	eisenmenger syndrome	32.8	CITED2 GATA4 NKX2-5
2	tricuspid atresia	32.6	GDF1 NKX2-6 ZFPM2
3	double outlet right ventricle	32.3	GATA4 GATA6 GDF1 ISL1 NKX2-5 NKX2-6
4	tetralogy of fallot	32.3	CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
5	conotruncal heart malformations	32.2	GATA6 GDF1 NKX2-5 NKX2-6 ZFPM2
6	transposition of the great arteries	31.5	GDF1 NKX2-5
7	patent ductus arteriosus 1	30.8	GATA4 GATA6 GDF1 NKX2-5 NKX2-6 NPPB
8	pulmonic stenosis	30.8	BRAF GATA4 GATA5 JAG1 NR2F2
9	atrioventricular block	30.8	GATA4 NKX2-5 NPPB TBX5
10	pulmonary valve stenosis	30.6	GATA4 JAG1 NKX2-6
11	aortic valve disease 1	30.5	GATA5 NKX2-5 NKX2-6 NPPB
12	atrial heart septal defect	30.5	BCOR GATA4 GATA6 GDF1 NKX2-5 NKX2-6
13	dextrocardia with situs inversus	30.4	CITED2 NODAL
14	atrioventricular septal defect	30.3	GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
15	holt-oram syndrome	30.3	MYH7 NKX2-5 TBX5
16	aortic valve disease 2	30.0	MYH7 NKX2-6 NPPB TBX5
17	ebstein anomaly	29.9	GATA4 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
18	hypoplastic left heart syndrome	29.9	NKX2-5 NKX2-6 NPPB
19	visceral heterotaxy	29.9	GDF1 NKX2-6 NODAL
20	total anomalous pulmonary venous return 1	29.7	GDF1 NKX2-6
21	patent foramen ovale	29.7	CITED2 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
22	heart disease	29.6	CITED2 GATA4 GATA5 GATA6 GDF1 ISL1
23	pulmonary atresia with ventricular septal defect	12.7
24	ventricular septal defect 2	12.6
25	ventricular septal defect 3	12.6
26	ventricular septal defect 1	12.6
27	hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect	12.3
28	double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	12.3
29	double outlet right ventricle with non-committed subpulmonary ventricular septal defect	12.3
30	laubry-pezzi syndrome	11.8
31	aortic arch interruption	11.5
32	transposition of the great arteries, dextro-looped 1	11.4
33	methimazole antenatal exposure	11.4
34	ritscher-schinzel syndrome 1	11.3
35	heterotaxy, visceral, 1, x-linked	11.3
36	congenital heart defects, multiple types, 6	11.3
37	congenital heart defects and skeletal malformations syndrome	11.3
38	right pulmonary artery, anomalous origin of, familial	11.3
39	hirschsprung disease polydactyly heart disease	11.3
40	laurence prosser rocker syndrome	11.3
41	pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	11.3
42	adams-oliver syndrome 1	11.1
43	renal hypodysplasia/aplasia 1	11.1
44	pagod syndrome	11.1
45	takayasu arteritis	11.1
46	right atrial isomerism	11.1
47	polysyndactyly with cardiac malformation	11.1
48	heterotaxy, visceral, 5, autosomal	11.1
49	microphthalmia, syndromic 2	11.1
50	heart defects, congenital, and other congenital anomalies	11.1

Graphical network of the top 20 diseases related to Ventricular Septal Defect:

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Symptoms & Phenotypes for Ventricular Septal Defect

GenomeRNAi Phenotypes related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

²⁶ (show all 24)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.78	GATA6
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.78	NODAL TBX5
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.78	CITED2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-114	9.78	GATA6
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.78	TBX5
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.78	NODAL
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.78	NODAL
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.78	CITED2 GATA6 NODAL TBX5
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.78	NODAL
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	9.78	GATA6
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.78	NODAL
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	9.78	TBX5
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-202	9.78	NODAL
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	9.78	TBX5
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-29	9.78	GATA6
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.78	CITED2
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.78	CITED2 GATA6
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	9.78	GATA6
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.78	CITED2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.78	GATA6
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.78	TBX5
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.78	TBX5
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.78	GATA6
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.78	GATA6

MGI Mouse Phenotypes related to Ventricular Septal Defect:

⁴⁶ (show all 18)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.48	BCOR BRAF CITED2 GATA4 GATA5 GATA6
2	cellular	MP:0005384	10.35	BCOR BRAF GATA4 GATA5 GATA6 GDF1
3	embryo	MP:0005380	10.35	BCOR BRAF CITED2 GATA4 GATA6 GDF1
4	growth/size/body region	MP:0005378	10.32	BCOR BRAF CITED2 GATA4 GATA6 GDF1
5	homeostasis/metabolism	MP:0005376	10.31	BRAF CITED2 GATA4 GATA5 GATA6 ISL1
6	mortality/aging	MP:0010768	10.31	BCOR BRAF CITED2 GATA4 GATA5 GATA6
7	digestive/alimentary	MP:0005381	10.25	BRAF CITED2 GATA4 GATA5 GDF1 ISL1
8	endocrine/exocrine gland	MP:0005379	10.22	BRAF CITED2 GATA4 GATA5 GDF1 ISL1
9	muscle	MP:0005369	10.18	BRAF GATA4 GATA5 GATA6 ISL1 JAG1
10	craniofacial	MP:0005382	10.1	BRAF CITED2 GDF1 ISL1 JAG1 NKX2-5
11	nervous system	MP:0003631	10.07	BCOR BRAF CITED2 GATA4 GDF1 ISL1
12	normal	MP:0002873	10.03	BRAF CITED2 GATA4 GATA6 GDF1 ISL1
13	limbs/digits/tail	MP:0005371	10.02	BRAF CITED2 GATA4 GATA6 HOMEZ ISL1
14	liver/biliary system	MP:0005370	10	BRAF GATA4 GATA6 GDF1 JAG1 NODAL
15	no phenotypic analysis	MP:0003012	9.92	GATA4 ISL1 JAG1 MYH7 NKX2-5 NODAL
16	reproductive system	MP:0005389	9.76	BRAF GATA4 GATA5 GATA6 ISL1 NODAL
17	respiratory system	MP:0005388	9.61	BRAF CITED2 GATA4 GATA6 GDF1 NKX2-5
18	skeleton	MP:0005390	9.32	BRAF CITED2 GATA4 GATA5 GDF1 HOMEZ

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Drugs & Therapeutics for Ventricular Septal Defect

Drugs for Ventricular Septal Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Anti-Asthmatic Agents

Phase 4

Adrenergic beta-Agonists

Phase 4

Adrenergic Agents

Phase 4,Phase 2,Phase 1

Peripheral Nervous System Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Respiratory System Agents

Phase 4

Adrenergic Agonists

Phase 4,Phase 2,Phase 1

Adrenergic beta-2 Receptor Agonists

Phase 4

Bronchodilator Agents

Phase 4

Tocolytic Agents

Phase 4

Neurotransmitter Agents

Phase 4,Phase 2,Phase 1

Autonomic Agents

Phase 4

Albuterol

Phase 4

Reteplase

Approved, Investigational

Phase 3

133652-38-7

65820

Abciximab

Approved

Phase 3

143653-53-6

Enalapril

Approved, Vet_approved

Phase 3

75847-73-3

5362032 40466924

Enalaprilat

Approved

Phase 3

76420-72-9

6917719

Platelet Aggregation Inhibitors

Phase 3,Phase 1,Phase 2

Antibodies, Monoclonal

Phase 3

Immunoglobulin Fab Fragments

Phase 3

Anticoagulants

Phase 3,Phase 2

Plasminogen

Phase 3

Antibodies

Phase 3

Tissue Plasminogen Activator

Phase 3

Immunologic Factors

Phase 3

Immunoglobulins

Phase 3

Fibrinolytic Agents

Phase 3

HIV Protease Inhibitors

Phase 3

Antihypertensive Agents

Phase 3

protease inhibitors

Phase 3

Angiotensin-Converting Enzyme Inhibitors

Phase 3

Ketamine

Approved, Vet_approved

Phase 2

6740-88-1

3821

Milrinone

Approved

Phase 1, Phase 2

78415-72-2

4197

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 2

437-38-7

3345

Dexmedetomidine

Approved, Vet_approved

Phase 2,Phase 1

113775-47-6

68602 5311068

Citric Acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2,Phase 2

77-92-9

311

Excitatory Amino Acid Antagonists

Phase 2

Anesthetics, Dissociative

Phase 2

Anesthetics, Intravenous

Phase 2,Not Applicable

Anesthetics

Phase 2,Not Applicable

Central Nervous System Depressants

Phase 2,Phase 1,Not Applicable

Excitatory Amino Acids

Phase 2

Analgesics

Phase 2,Phase 1,Not Applicable

Anesthetics, General

Phase 2,Not Applicable

Sildenafil Citrate

Phase 1, Phase 2

171599-83-0

Phosphodiesterase 3 Inhibitors

Phase 1, Phase 2

Phosphodiesterase Inhibitors

Phase 1, Phase 2

Vasodilator Agents

Phase 1, Phase 2

Citrate

Phase 1, Phase 2,Phase 2

Cardiotonic Agents

Phase 1, Phase 2

Protective Agents

Phase 1, Phase 2

Interventional clinical trials:

(show all 48)

#	Name	Status	NCT ID	Phase	Drugs
1	The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects.	Completed	NCT02914652	Phase 4	Salbutamol;Norflouran (Placebo Evohaler(R) )
2	Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect	Unknown status	NCT02644330	Phase 2, Phase 3
3	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest	Completed	NCT00000470	Phase 3
4	A Study of Abciximab and Reteplase When Administered Prior to Catherization After a Myocardial Infarction (Finesse)	Completed	NCT00046228	Phase 3	abciximab placebo; reteplase placebo, abciximab, abciximab;Abciximab; reteplase; abciximab placebo; abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;abciximab placebo; reteplase placebo, abciximab, abciximab;abciximab; reteplase placebo; abciximab placebo; abciximab;Abciximab; reteplase; abciximab placebo; abciximab
5	Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation	Terminated	NCT00113698	Phase 3	Enalapril
6	Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol	Completed	NCT01120964	Phase 1, Phase 2	Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
7	Use of Ketamine Prior to Cardiopulmonary Bypass in Children	Completed	NCT00556361	Phase 2	saline;ketamine
8	Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension	Completed	NCT02595541	Phase 1, Phase 2	milrinone;Sildenafil
9	Measures to Lower the Stress Response in Pediatric Cardiac Surgery	Completed	NCT00848393	Phase 2	Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
10	Hypertonic Saline Dextran in Pediatric Cardiac Surgery	Completed	NCT00199771	Phase 2	7.5% NaCl in 6% dextran 70 solution
11	Evaluation of Myocardial Effects of Bendavia for Reducing Reperfusion Injury in Patients With Acute Coronary Events	Completed	NCT01572909	Phase 2	Bendavia (MTP-131);Placebo
12	Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder	Unknown status	NCT00583791	Phase 1
13	Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER	Completed	NCT00578708	Phase 1
14	A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics	Completed	NCT01915277	Phase 1	Dexmedetomidine
15	Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow	Active, not recruiting	NCT01825369	Phase 1	IV L-carnitine
16	Study of Energy Expenditure in Infants With Ventricular Septal Defects	Unknown status	NCT00006272
17	Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect	Unknown status	NCT00173186
18	Transcatheter Closure Versus Surgery of Perimembranous Ventricular Septal Defects	Completed	NCT00890799	Not Applicable
19	Longterm Outcome After Ventricular Septal Defect Closure	Completed	NCT02138435
20	Right Bundle Branch Block After Surgical Closure of Ventricular Septal Defect	Completed	NCT01480908	Not Applicable
21	Hybrid Closure of Congenital Heart Disease	Completed	NCT02794584	Not Applicable	sufentanil anesthesia
22	A Randomized Controlled Trial:Treatments on Infundibular Ventricular Septal Defect	Completed	NCT02361008	Not Applicable
23	Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With Closed Ventricular Septal Defect	Completed	NCT02648984	Not Applicable
24	The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension	Completed	NCT01313832	Not Applicable
25	Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System	Completed	NCT00390702	Not Applicable
26	Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions	Completed	NCT02552485
27	Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005546
28	Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005322
29	Bupropion & Cardio Birth Defect (Slone)	Completed	NCT01597661		Exposure to any bupropion during the first trimester;Exposure to bupropion alone during the first trimester
30	Quality of Life in Young Adults With Congenital Heart Disease	Completed	NCT02463292
31	Reproduction and Survival After Cardiac Defect Repair	Completed	NCT00005190
32	Acetaminophen for Oxidative Stress After Cardiopulmonary Bypass	Completed	NCT01228305	Not Applicable
33	Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease	Completed	NCT02449083
34	Follow up of Post-repair Tetralogy of Fallot	Completed	NCT00266188
35	Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect	Recruiting	NCT03684161
36	Cardiac Function After Transcatheter VSD Closure	Recruiting	NCT03127748
37	French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload	Recruiting	NCT03363932
38	Choice of Palliative Procedures for Pulmonary Atresia With Ventricular Septal Defect Patients	Recruiting	NCT02861963	Not Applicable
39	Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study	Recruiting	NCT00647387	Not Applicable
40	The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study	Recruiting	NCT03165526
41	Extended Criteria For Fetal Myelomeningocele Repair	Recruiting	NCT02664207	Not Applicable
42	Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study	Recruiting	NCT03022708	Not Applicable
43	Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair	Recruiting	NCT03176225	Not Applicable
44	Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction	Active, not recruiting	NCT02700100	Not Applicable
45	Rhythm Disturbances After Ventricular Septal Defects	Terminated	NCT00208624
46	Optimal Timing for Repair of Left to Right Shunt Lesions	Terminated	NCT00229827
47	Surgical Outcomes in Pediatric Patients With Coarctation and VSD	Terminated	NCT00327795
48	Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique	Terminated	NCT00384163

Search NIH Clinical Center for Ventricular Septal Defect

Cochrane evidence based reviews: heart septal defects, ventricular

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Genetic Tests for Ventricular Septal Defect

Genetic tests related to Ventricular Septal Defect:

#	Genetic test	Affiliating Genes
1	Ventricular Septal Defect ²⁹

Sources

Anatomical Context for Ventricular Septal Defect

MalaCards organs/tissues related to Ventricular Septal Defect:

⁴¹

Heart, Lung, Testes, Liver, Brain, Eye, Bone

Sources

Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 1693)

#	Title	Authors	Year
1	Heart rate variability is impaired in adults after closure of ventricular septal defect in childhood: A novel finding associated with right bundle branch block. ( 30454724 )	Heiberg J...Hjortdal VE	2019
2	Ventricular Septal Defect Closure Devices, Techniques, and Outcomes. ( 30449417 )	Morray BH	2019
3	Surgical closure of a ventricular septal defect in early childhood leads to altered pulmonary function in adulthood: A long-term follow-up. ( 30001944 )	Rex CE...Hjortdal VE	2019
4	Transatrial repair of post-infarction ventricular septal defect. ( 29368036 )	Tokuda T....Murakami T.	2018
5	Unusual combination of mitral valve prolapse, bicuspid aortic valve, and ventricular septal defect restricted by the tricuspid septal leaflet. ( 29339711 )	KocabaA9 U....SoydaA9 A8A+nar C.	2018
6	Correction to: Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29744640 )	Jia Q....Liang C.	2018
7	Repair of Morgagni hernia and ventricular septal defect through sternotomy. ( 29378436 )	Alkady H....Elsayed T.	2018
8	Minimally invasive perventricular versus open surgical ventricular septal defect closure in infants and children: a randomised clinical trial. ( 29941505 )	Liu H....Liu X.C.	2018
9	Bidirectional Shunt Trajectory in Ventricular Septal Defect With Eisenmenger's Syndrome. ( 29806624 )	Kayamori H....Minamino T.	2018
10	Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )	Deri A....English K.	2018
11	Ventricular Septal Defect Closure: How I Teach It. ( 29908192 )	Manning P.B.	2018
12	Double outlet right ventricle with subpulmonary ventricular septal defect (Taussig-Bing anomaly) and other complex congenital cardiac malformations in an American Quarter Horse foal. ( 29174590 )	Kohnken R....Dunbar L.	2018
13	The Fate of the Tricuspid Valve Following the Transatrial Closure of the Ventricular Septal Defect. ( 29778818 )	Giordano R....Palma G.	2018
14	Acquired ventricular septal defect due to infective endocarditis. ( 29440841 )	Durden R.E....Bansal M.	2018
15	Impact of Phrenic Nerve Palsy and Need for Diaphragm Plication Following Surgery for Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collaterals. ( 29545034 )	Greene C.L....Hanley F.L.	2018
16	Pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals: collateral vessel disease burden and unifocalisation strategies. ( 29978776 )	Hofferberth S.C....Emani S.M.	2018
17	Utility of cardiac MRI in determining percutaneous versus surgical post-infarction ventricular septal defect repair. ( 29355029 )	Glovaci D....Krishnam M.	2018
18	Peri-procedural antibiotic prophylaxis in ventricular septal defect: a case study to re-visit guidelines. ( 29404364 )	Garg N....Ardeshna D.	2018
19	A meta-analysis of transcatheter device closure of perimembranous ventricular septal defect. ( 29273241 )	Santhanam H....Quek S.C.	2018
20	An analysis of patients requiring unifocalization revision following midline unifocalization for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29447337 )	Mainwaring R.D....Hanley F.L.	2018
21	Ominous comorbidities: Small ventricular septal defect and warm autoimmune hemolytic anemia. ( 29440848 )	Rad E.M.	2018
22	Evaluation of Different Minimally Invasive Techniques in Surgical Treatment for Ventricular Septal Defect. ( 29153964 )	Liu H....Ren W.	2018
23	Salivary interleukin-6 levels in children with early childhood caries and ventricular septal defect. ( 29970629 )	George T....Govinda B.S.	2018
24	Surgical algorithm and results for repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals. ( 29789151 )	Mainwaring R.D....Hanley F.L.	2018
25	Restrictive perimembranous ventricular septal defect with left to right Shunt post urgent aortic balloon valvuloplasty and transcatheter aortic valve replacement. ( 29434633 )	Chourdakis E....Hauptmann K.E.	2018
26	Importance of transcatheter closure test for giant ventricular septal defect associated with pulmonary hypertension: a case with successful surgical repair of the defect. ( 29923473 )		2018
27	Safe Administration of Electroconvulsive Therapy in Patient with Ventricular Septal Defect Patch: A Rare Case Report. ( 29962576 )		2018
28	Tricuspid valve straddling: An uncommon cause of left ventricular outflow tract obstruction in transposition of great artery with ventricular septal defect. ( 29336395 )		2018
29	Anatomy of the retro-oesophageal major aortopulmonary collateral arteries in patients with pulmonary atresia with ventricular septal defect: results from preoperative CTA. ( 29305732 )		2018
30	Single-stage repair of double outlet right ventricle with subpulmonic ventricular septal defect (Taussig-Bing anomaly). ( 29485771 )		2018
31	Surgical strategies for pulmonary atresia with ventricular septal defect associated with major aortopulmonary collateral arteries. ( 29802565 )		2018
32	Displacement of occluder as a rare complication of transcatheter closure of ventricular septal defect: A case report. ( 29979405 )		2018
33	Ablation of symptomatic ventricular tachycardia after surgical correction of ventricular septal defect in childhood: using high-density mapping, how precise is EnSite Precision? ( 29756200 )		2018
34	Catheter, MRI and CT Imaging in Newborns with Pulmonary Atresia with Ventricular Septal Defect and Aortopulmonary Collaterals: Quantifying the Risks of Radiation Dose and Anaesthetic Time. ( 29744658 )		2018
35	Intracardiac bronchogenic cyst associated with ventricular septal defect: an extremely rare feature in children. ( 29897508 )		2018
36	Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. ( 29923154 )		2018
37	Aortopulmonary window with pumonary atresia with ventricular septal defect with D-transposition of great arteries: extremely rare anomaly. ( 29898907 )		2018
38	Differential Expression of CircRNAs in Embryonic Heart Tissue Associated with Ventricular Septal Defect. ( 29910675 )		2018
39	Concomitant repair of vascular ring with Kommerell's diverticulum and ventricular septal defect. ( 29314252 )		2018
40	Ventricular septal defect and left ventricular outflow tract obstruction after transcatheter aortic valve implantation. ( 29373376 )		2018
41	Transcatheter closure of ventricular septal defect in aortic valve prolapse and aortic regurgitation. ( 30170648 )	Ghosh S...Sivaprakasham M	2018
42	Type I Second Degree Atrioventricular Block in a Woman With Remote Repair of a Ventricular Septal Defect. ( 30057230 )	Seifu SA...Glancy DL	2018
43	Late complete atrioventricular block after hybrid perimembranous ventricular septal defect closure in a neonate. ( 30338840 )	Ga?eczka M...Bia?kowski J	2018
44	Alterations in cerebral blood flow in children with congestive heart failure due to ventricular septal defect. ( 30280507 )	Ozturk Tasar N...Ucar B	2018
45	Right-sided infective endocarditis in patients with uncorrected ventricular septal defect and patent ductus arteriosus: Two case reports. ( 30455914 )	Sattwika PD...Dinarti LK	2018
46	Increased incidence of infective endocarditis in patients with ventricular septal defect. ( 30259666 )	Lee PT...Tan JL	2018
47	Nature's balancing act: Infective endocarditis of pulmonary valve with ventricular septal defect in fifth decade; a rare and unusual presentation. ( 30279860 )	Kumar B...Singh M	2018
48	A Case of Gerbode Ventricular Septal Defect Endocarditis. ( 30370384 )	Kretzer A...Jones MM	2018
49	Post-myocardial infarction ventricular septal defect: A comprehensive review. ( 30527592 )	Shahreyar M...Ibebuogu UN	2018
50	Post-Myocardial Infarction Ventricular Septal Defect: Still a Deadly Complication 30 Years after the First Transcatheter Closure. ( 30430807 )	Rey F...Noble S	2018

Sources

Genes for Ventricular Septal Defect

Genes related to Ventricular Septal Defect (2 elite genes):

(show all 26)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TBX5	T-Box 5	Protein Coding	430.5	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	19187613
2	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	407.46	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	SMAD1-AS1	SMAD1 Antisense RNA 1	RNA Gene	161.24	Experimental evidence: Expression ³⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	24147006
4	FGF10-AS1	FGF10 Antisense RNA 1	RNA Gene	160.81	Experimental evidence: Expression ³⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	24147006
5	NKX2-5	NK2 Homeobox 5	Protein Coding	52.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	20137692 19933292
6	GATA4	GATA Binding Protein 4	Protein Coding	52.72	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	19915893 19302747
7	GATA6	GATA Binding Protein 6	Protein Coding	32.73	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
8	MYH7	Myosin Heavy Chain 7	Protein Coding	30.42	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
9	NKX2-6	NK2 Homeobox 6	Protein Coding	26.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	GDF1	Growth Differentiation Factor 1	Protein Coding	26.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
11	JAG1	Jagged 1	Protein Coding	25.77	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	12372254
12	NPPB	Natriuretic Peptide B	Protein Coding	25.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18036937 12828576 15124836 (more) 17530321 18043998 18307440 17786380 17350484 19636481
13	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	24.33	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
14	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	23.89	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
15	NODAL	Nodal Growth Differentiation Factor	Protein Coding	23.51	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
16	GATA5	GATA Binding Protein 5	Protein Coding	22.76	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
17	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	22.58	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
18	ISL1	ISL LIM Homeobox 1	Protein Coding	22.5	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	BCOR	BCL6 Corepressor	Protein Coding	22.26	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
20	HOMEZ	Homeobox And Leucine Zipper Encoding	Protein Coding	22.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	22.02	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	21.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	21.52	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	ZIC3	Zic Family Member 3	Protein Coding	11.45	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
25	EVC	EvC Ciliary Complex Subunit 1	Protein Coding	11.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	HAND1	Heart And Neural Crest Derivatives Expressed 1	Protein Coding	10.84	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

⁶ (show all 20)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BRAF	NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177039	GRCh37	Chromosome 7, 140477806: 140477806
2	BRAF	NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly)	single nucleotide variant	Pathogenic/Likely pathogenic	rs180177039	GRCh38	Chromosome 7, 140778006: 140778006
3	covers 61 genes, none of which curated to show dosage sensitivity	GRCh37/hg19 14q24.2-q24.3(chr14: 73152115..77698582)	deletion	Likely pathogenic		GRCh37	Chromosome 14, 73152115: 77698582
4	FOXP4	NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs)	deletion	Likely pathogenic	rs1114167294	GRCh37	Chromosome 6, 41555193: 41555193
5	FOXP4	NM_001012426.1(FOXP4): c.815delT (p.Leu272Profs)	deletion	Likely pathogenic	rs1114167294	GRCh38	Chromosome 6, 41587455: 41587455
6	AAR2	NM_015511.4(AAR2): c.520G> A (p.Val174Met)	single nucleotide variant	Likely pathogenic	rs746800707	GRCh38	Chromosome 20, 36240388: 36240388
7	AAR2	NM_015511.4(AAR2): c.520G> A (p.Val174Met)	single nucleotide variant	Likely pathogenic	rs746800707	GRCh37	Chromosome 20, 34828310: 34828310
8	FOXF1	NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr)	single nucleotide variant	Likely pathogenic	rs1057518868	GRCh37	Chromosome 16, 86544455: 86544455
9	FOXF1	NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr)	single nucleotide variant	Likely pathogenic	rs1057518868	GRCh38	Chromosome 16, 86510849: 86510849
10	SMARCA4	NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile)	single nucleotide variant	Likely benign	rs1057518862	GRCh38	Chromosome 19, 10991262: 10991262
11	SMARCA4	NM_001128849.1(SMARCA4): c.1358C> T (p.Thr453Ile)	single nucleotide variant	Likely benign	rs1057518862	GRCh37	Chromosome 19, 11101938: 11101938
12	RPS6KA3	NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly)	single nucleotide variant	Likely pathogenic	rs1057518914	GRCh37	Chromosome X, 20211665: 20211665
13	RPS6KA3	NM_004586.2(RPS6KA3): c.533C> G (p.Ala178Gly)	single nucleotide variant	Likely pathogenic	rs1057518914	GRCh38	Chromosome X, 20193547: 20193547
14	TBX5	NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter)	single nucleotide variant	Pathogenic		GRCh38	Chromosome 12, 114355868: 114355868
15	TBX5	NM_000192.3(TBX5): c.1221C> G (p.Tyr407Ter)	single nucleotide variant	Pathogenic		GRCh37	Chromosome 12, 114793673: 114793673
16	MYCN	NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 2, 16086050: 16086050
17	MYCN	NM_005378.5(MYCN): c.1226C> T (p.Pro409Leu)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 2, 15945928: 15945928
18	HUWE1	NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome X, 53596615: 53596615
19	HUWE1	NM_031407.6(HUWE1): c.6485G> C (p.Arg2162Pro)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome X, 53569655: 53569655
20	FLVCR2	GRCh37/hg19 14q24.3(chr14: 76105695-76107636)	copy number loss	Uncertain significance		GRCh37	Chromosome 14, 76105695: 76107636

Sources

Expression for Ventricular Septal Defect

Search GEO for disease gene expression data for Ventricular Septal Defect.

Sources

Pathways for Ventricular Septal Defect

Pathways related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	DREAM Repression and Dynorphin Expression ⁶⁴ Show member pathways BMP Pathway ⁶⁴ Caspase Cascade ⁶⁴ Depolarization of the Presynaptic Terminal Triggers the Opening of Calcium Channels ⁶⁶ nNOS Signaling in Skeletal Muscle ⁶⁴ TOB in Osteoblast Signaling ⁶⁴	12.19	GATA4 GATA5 GATA6 NKX2-5
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.16	GATA4 MYH7 NKX2-5 NPPB TBX5
3	Factors involved in megakaryocyte development and platelet production ⁶⁶	11.87	GATA4 GATA5 GATA6 ZFPM2
4	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.78	GATA4 ISL1 NKX2-5 NODAL TBX5
5	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.26	GATA4 GATA6 ISL1
6	Cardiac Progenitor Differentiation ¹	11.08	GATA4 ISL1 NKX2-5 NODAL TBX5
7	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.8	GATA4 MYH7 NKX2-5 NPPB
8	Heart Development ¹	10.68	GATA4 GATA6 ISL1 NKX2-5 TBX5
9	HOP Signaling ⁶⁴	10.18	GATA4 NKX2-5

Sources

GO Terms for Ventricular Septal Defect

Biological processes related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

(show top 50) (show all 58)

#	Name	GO ID	Score	Top Affiliating Genes
1	in utero embryonic development	GO:0001701	9.98	CITED2 GATA6 NODAL NR2F2 ZFPM2
2	blood coagulation	GO:0007596	9.97	GATA4 GATA5 GATA6 ZFPM2
3	positive regulation of angiogenesis	GO:0045766	9.96	GATA4 GATA6 ISL1 NODAL
4	animal organ morphogenesis	GO:0009887	9.91	BRAF GATA4 GATA5 GATA6 JAG1
5	negative regulation of cell migration	GO:0030336	9.9	CITED2 JAG1 TBX5
6	male gonad development	GO:0008584	9.9	CITED2 GATA4 GATA6
7	positive regulation of transcription by RNA polymerase II	GO:0045944	9.9	CITED2 GATA4 GATA5 GATA6 ISL1 JAG1
8	lung development	GO:0030324	9.88	NODAL TBX5 ZFPM2
9	BMP signaling pathway	GO:0030509	9.88	GDF1 NKX2-5 NODAL
10	liver development	GO:0001889	9.87	CITED2 GATA6 NODAL
11	vasculogenesis	GO:0001570	9.85	CITED2 NKX2-5 ZFPM2
12	outflow tract morphogenesis	GO:0003151	9.84	CITED2 ISL1 NKX2-5
13	heart looping	GO:0001947	9.84	CITED2 GATA4 NKX2-5 NODAL
14	ventricular septum morphogenesis	GO:0060412	9.83	CITED2 NKX2-5 ZFPM2
15	positive regulation of cardiac muscle cell proliferation	GO:0060045	9.82	GATA6 TBX5 ZFPM2
16	ventricular septum development	GO:0003281	9.8	CITED2 GATA4 TBX5
17	positive regulation of vascular endothelial growth factor production	GO:0010575	9.79	GATA4 ISL1 NODAL
18	tissue development	GO:0009888	9.78	GATA4 GATA5 GATA6
19	aortic valve morphogenesis	GO:0003180	9.77	GATA4 GATA5 JAG1
20	embryonic heart tube development	GO:0035050	9.77	NKX2-5 NKX2-6 NODAL
21	outflow tract septum morphogenesis	GO:0003148	9.76	GATA6 ISL1 NKX2-5 ZFPM2
22	cardiac muscle tissue development	GO:0048738	9.75	GATA6 NKX2-5 ZFPM2
23	pharyngeal system development	GO:0060037	9.74	ISL1 NKX2-5 NKX2-6
24	cardiac right ventricle morphogenesis	GO:0003215	9.73	GATA4 ISL1 JAG1
25	cardiac muscle cell differentiation	GO:0055007	9.73	GATA4 GATA6 NKX2-5 TBX5
26	negative regulation of cardiac muscle cell proliferation	GO:0060044	9.72	CITED2 TBX5
27	endocardial cushion development	GO:0003197	9.72	CITED2 GATA4 TBX5
28	cell development	GO:0048468	9.72	GATA4 GATA5 GATA6 GDF1 NODAL
29	adult heart development	GO:0007512	9.71	MYH7 NKX2-5
30	cardiac muscle hypertrophy in response to stress	GO:0014898	9.71	GATA6 MYH7
31	trophectodermal cell differentiation	GO:0001829	9.71	CITED2 NODAL
32	cardiac septum morphogenesis	GO:0060411	9.71	CITED2 JAG1
33	positive regulation of cell-cell adhesion	GO:0022409	9.7	CITED2 NODAL
34	maternal placenta development	GO:0001893	9.7	NODAL NR2F2
35	cardiac ventricle morphogenesis	GO:0003208	9.69	GATA4 NKX2-5
36	ventricular cardiac muscle cell development	GO:0055015	9.69	NKX2-5 NKX2-6
37	pericardium development	GO:0060039	9.69	NKX2-6 TBX5
38	positive regulation of male gonad development	GO:2000020	9.68	CITED2 ZFPM2
39	embryonic process involved in female pregnancy	GO:0060136	9.68	CITED2 NODAL
40	pulmonary artery morphogenesis	GO:0061156	9.67	CITED2 JAG1
41	intestinal epithelial cell differentiation	GO:0060575	9.67	GATA4 GATA5 GATA6
42	anatomical structure formation involved in morphogenesis	GO:0048646	9.67	GATA4 GATA5 GATA6 NODAL
43	embryonic heart tube left/right pattern formation	GO:0060971	9.65	CITED2 NKX2-5
44	atrial cardiac muscle cell development	GO:0055014	9.64	NKX2-5 NKX2-6
45	bundle of His development	GO:0003166	9.63	NKX2-5 TBX5
46	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	GO:1900164	9.63	CITED2 NODAL
47	right ventricular cardiac muscle tissue morphogenesis	GO:0003221	9.61	NKX2-5 ZFPM2
48	atrial septum morphogenesis	GO:0060413	9.56	GATA4 ISL1 NKX2-5 TBX5
49	heart development	GO:0007507	9.36	BCOR CITED2 GATA4 GATA5 GATA6 ISL1
50	positive regulation of cardioblast differentiation	GO:0051891	9.26	GATA4 GATA6 NKX2-5 TBX5

Molecular functions related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.96	GATA4 GATA5 GATA6 HOMEZ ISL1 NKX2-5
2	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.91	GATA4 GATA5 GATA6 ISL1 NKX2-5 TBX5
3	proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001077	9.88	GATA4 GATA5 GATA6 ISL1 NKX2-5
4	transcription coactivator activity	GO:0003713	9.83	CITED2 GATA4 ISL1 ZFPM2
5	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	9.8	GATA4 NKX2-5 NKX2-6 TBX5
6	transcription regulatory region DNA binding	GO:0044212	9.8	BCOR GATA4 GATA5 GATA6 NKX2-5
7	transcription factor binding	GO:0008134	9.8	BCOR GATA4 GATA6 NKX2-5 TBX5 ZFPM2
8	transcription corepressor activity	GO:0003714	9.77	BCOR CITED2 HOMEZ NR2F2 ZFPM2
9	sequence-specific DNA binding	GO:0043565	9.76	GATA4 GATA5 GATA6 ISL1 NKX2-5 NKX2-6
10	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	9.69	GATA5 GATA6 NKX2-5
11	DNA-binding transcription factor activity	GO:0003700	9.61	CITED2 GATA4 GATA5 GATA6 HOMEZ NKX2-5
12	enhancer sequence-specific DNA binding	GO:0001158	8.92	GATA4 GATA5 GATA6 ISL1
13	DNA binding	GO:0003677	10.16	GATA4 GATA5 GATA6 HOMEZ ISL1 NKX2-5

Sources

Sources for Ventricular Septal Defect

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia