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

MalaCards based summary: Ventricular Septal Defect, also known as ventricular septal defects, is related to tetralogy of fallot and heart septal defect. An important gene associated with Ventricular Septal Defect is FOXP4 (Forkhead Box P4), and among its related pathways/superpathways are Nervous system development and Human Embryonic Stem Cell Pluripotency. The drugs Salbutamol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and smooth muscle, and related phenotypes are Increased shRNA abundance (Z-score > 2) and muscle

Wikipedia: ⁷⁵ 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 662)

#	Related Disease	Score	Top Affiliating Genes
1	tetralogy of fallot	33.2	ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
2	heart septal defect	33.1	ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
3	double outlet right ventricle	33.0	ZIC3 ZFPM2 TBX5 NODAL NKX2-5 JAG1
4	conotruncal heart malformations	33.0	ZFPM2 NKX2-5 GDF1 GATA6
5	tricuspid atresia	32.7	ZIC3 ZFPM2 TBX5 NKX2-5 GATA6 GATA4
6	atrioventricular septal defect	32.6	ZIC3 ZFPM2 TBX5 NODAL NKX2-5 GDF1
7	aortic valve insufficiency	32.5	NPPB NKX2-5 GATA5
8	holt-oram syndrome	32.4	ZIC3 TBX5 NKX2-5 GATA4
9	congenital heart defects, multiple types, 4	32.4	GATA6 GATA4
10	right atrial isomerism	32.4	ZIC3 TBX5 NODAL NKX2-5 GDF1 CITED2
11	transposition of the great arteries, dextro-looped	32.3	ZIC3 TBX5 NPPB NODAL NKX2-5 GDF1
12	third-degree atrioventricular block	32.1	TBX5 NPPB NKX2-5
13	atrioventricular block	32.1	TBX5 NPPB NKX2-5 GATA4
14	interatrial communication	32.1	TBX5 SMARCA4 NKX2-5
15	aortic valve disease 2	32.1	TBX5 NPPB NKX2-5 GATA4
16	patent ductus arteriosus 1	31.9	ZIC3 ZFPM2 TBX5 SMARCA4 NPPB NODAL
17	atrial heart septal defect	31.8	ZIC3 ZFPM2 TBX5 SMARCA4 NPPB NODAL
18	aortic valve disease 1	31.7	TBX5 NPPB NKX2-5 JAG1 GATA6 GATA5
19	pulmonary valve stenosis	31.7	ZIC3 TBX5 NKX2-5 JAG1 GATA4
20	pulmonic stenosis	31.7	ZIC3 JAG1 GATA5 BRAF
21	ebstein anomaly	31.5	ZFPM2 TBX5 NPPB NODAL NKX2-5 GATA4
22	chromosome 22q11.2 deletion syndrome, distal	31.4	ZIC3 TBX5 NKX2-5 GATA4
23	patent foramen ovale	31.4	ZIC3 TBX5 NPPB NKX2-5 JAG1 GATA6
24	pulmonary valve insufficiency	31.4	NPPB NKX2-5
25	hypertrophic cardiomyopathy	31.4	TBX5 NPPB NKX2-5 GATA4 BRAF
26	orofaciodigital syndrome viii	31.4	ZIC3 TBX5 NKX2-5 GATA4
27	dextrocardia with situs inversus	31.3	NODAL CITED2
28	tricuspid valve stenosis	31.3	NPPB NKX2-5
29	visceral heterotaxy	31.2	ZIC3 NODAL NKX2-5 GDF1
30	left ventricular noncompaction	31.2	TBX5 NKX2-5 JAG1 GATA4
31	heart disease	31.2	ZIC3 TBX5 NPPB NODAL NKX2-5 JAG1
32	total anomalous pulmonary venous return 1	31.1	ZIC3 TBX5 NODAL NKX2-5 GATA4
33	diaphragmatic hernia, congenital	31.1	ZFPM2 TBX5 GATA6 GATA4 FOXF1
34	orthostatic intolerance	31.0	TBX5 RPS6KA3 NKX2-5
35	velocardiofacial syndrome	31.0	TBX5 NKX2-5 GATA4
36	aortic aneurysm, familial thoracic 1	30.9	TBX5 SMARCA4 NKX2-5 JAG1 GATA6 GATA5
37	patau syndrome	30.8	ZIC3 TBX5 NODAL NKX2-5 GATA4
38	wolff-parkinson-white syndrome	30.8	TBX5 NPPB NODAL NKX2-5 JAG1
39	hypoplastic left heart syndrome	30.7	ZIC3 ZFPM2 TBX5 NPPB NODAL NKX2-5
40	atypical coarctation of aorta	30.6	JAG1 GATA6
41	atrial septal defect 2	30.6	TBX5 NKX2-5 GATA4
42	jacobsen syndrome	30.6	ZIC3 TBX5 NKX2-5 GATA4
43	char syndrome	30.6	ZIC3 TBX5 CITED2
44	duodenal atresia	30.6	ZIC3 NODAL FOXF1
45	chromosome 1p36 deletion syndrome	30.5	TBX5 NKX2-5 GATA4
46	noonan syndrome 1	30.5	ZIC3 TBX5 NKX2-5 JAG1 GATA4 BRAF
47	vacterl association, x-linked, with or without hydrocephalus	30.5	ZIC3 FOXF1
48	wolf-hirschhorn syndrome	30.5	ZFPM2 NKX2-5 GATA4
49	esophageal atresia	30.4	ZIC3 FOXF1 BRAF
50	tracheomalacia	30.3	TBX5 FOXF1

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:

²⁵ (show all 18)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.64	GATA6
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-107	9.64	TBX5
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-119	9.64	NODAL
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.64	NODAL
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.64	NODAL
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-147	9.64	NODAL
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-155	9.64	NODAL
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.64	CITED2 GATA6 NODAL
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.64	NODAL
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	9.64	CITED2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.64	CITED2 GATA6
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.64	GATA6
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-67	9.64	TBX5
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-69	9.64	TBX5
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-75	9.64	CITED2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.64	GATA6
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-89	9.64	CITED2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-98	9.64	TBX5

MGI Mouse Phenotypes related to Ventricular Septal Defect:

⁴⁵ (show all 15)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10.34	BRAF FOXF1 GATA4 GATA5 GATA6 JAG1
2	normal	MP:0002873	10.33	BRAF CITED2 GATA4 GATA6 GDF1 JAG1
3	growth/size/body region	MP:0005378	10.29	BRAF CITED2 FOXF1 GATA4 GATA6 GDF1
4	nervous system	MP:0003631	10.28	BRAF CITED2 FOXP4 GATA4 GDF1 JAG1
5	liver/biliary system	MP:0005370	10.25	BRAF FOXF1 GATA4 GATA6 GDF1 JAG1
6	embryo	MP:0005380	10.25	BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
7	digestive/alimentary	MP:0005381	10.22	BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5
8	endocrine/exocrine gland	MP:0005379	10.2	BRAF CITED2 FOXF1 GATA4 GATA5 GDF1
9	cardiovascular system	MP:0005385	10.19	BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5
10	cellular	MP:0005384	10.1	BRAF FOXF1 GATA4 GATA5 GATA6 GDF1
11	limbs/digits/tail	MP:0005371	10.04	BRAF CITED2 GATA4 GATA6 SMARCA4 TBX5
12	craniofacial	MP:0005382	10.02	BRAF CITED2 GDF1 JAG1 NKX2-5 NODAL
13	respiratory system	MP:0005388	9.97	BRAF CITED2 FOXF1 FOXP4 GATA4 GATA6
14	skeleton	MP:0005390	9.7	BRAF CITED2 GATA4 GATA5 GDF1 JAG1
15	mortality/aging	MP:0010768	9.5	BRAF CITED2 FOXF1 FOXP4 GATA4 GATA5

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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 58)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Salbutamol

Approved, Vet_approved

Phase 4

18559-94-9

2083

2

Neurotransmitter Agents

Phase 4

3

Adrenergic Agonists

Phase 4

4

Adrenergic Agents

Phase 4

5

Bronchodilator Agents

Phase 4

6

Adrenergic beta-Agonists

Phase 4

7

Anti-Asthmatic Agents

Phase 4

8

Respiratory System Agents

Phase 4

9

Tocolytic Agents

Phase 4

10

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

11

Tannic acid

Approved

Phase 3

1401-55-4

16129878 16129778

12

Enalaprilat

Approved

Phase 3

76420-72-9

6917719 5462501

13

Enalapril

Approved, Vet_approved

Phase 3

75847-73-3

40466924 5388962 5362032

14

Plasma-lyte 148

Phase 3

15

Ophthalmic Solutions

Phase 3

16

Antihypertensive Agents

Phase 3

17

Angiotensin-Converting Enzyme Inhibitors

Phase 3

18

HIV Protease Inhibitors

Phase 3

19

protease inhibitors

Phase 3

20

Sodium citrate

Approved, Investigational

Phase 1, Phase 2

68-04-2

23431961

21

Sildenafil

Approved, Investigational

Phase 1, Phase 2

139755-83-2, 171599-83-0

5212 135398744

22

Milrinone

Approved

Phase 1, Phase 2

78415-72-2

4197

23

Dexmedetomidine

Approved, Experimental, Vet_approved

Phase 2

86347-14-0, 113775-47-6

68602 5311068

24

Ketamine

Approved, Vet_approved

Phase 2

6740-88-1, 1867-66-9

3821

25

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 2

437-38-7

3345

26

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 1, Phase 2

77-92-9

311

27

Anesthetics

Phase 2

28

Cardiotonic Agents

Phase 1, Phase 2

29

Phosphodiesterase Inhibitors

Phase 1, Phase 2

30

Phosphodiesterase 5 Inhibitors

Phase 1, Phase 2

31

Phosphodiesterase 3 Inhibitors

Phase 1, Phase 2

32

Vasodilator Agents

Phase 1, Phase 2

33

Platelet Aggregation Inhibitors

Phase 1, Phase 2

34

Citrate

Phase 1, Phase 2

35

Protective Agents

Phase 1, Phase 2

36

Adrenergic alpha-Agonists

Phase 2

37

Hypnotics and Sedatives

Phase 2

38

Analgesics, Non-Narcotic

Phase 2

39

Analgesics

Phase 2

40

Excitatory Amino Acid Antagonists

Phase 2

41

Anesthetics, Intravenous

Phase 2

42

Anesthetics, General

Phase 2

43

Anesthetics, Dissociative

Phase 2

44

Calcium, Dietary

Phase 2

45

Anticoagulants

Phase 2

46

Analgesics, Opioid

Phase 2

47

Narcotics

Phase 2

48

Chelating Agents

Phase 2

49

Blood Substitutes

Phase 2

50

Plasma Substitutes

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 Ventrucular Septal Defect Patients With Persistant or Surgically Corrected Conditions - The VENTI Trial	Completed	NCT02914652	Phase 4	Salbutamol;Norflouran (Placebo Evohaler(R) )
2	A Randomized Controlled Trial of Minimally Invasive Transthoracic Device Closure in the Treatment of Patients With 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 Phase III Double-Blind, Randomized, Placebo Controlled, Multi Center Clinical Study to Evaluate the Efficacy and Safety of Intravenous L-Citrulline for the Prevention of Clinical Sequelae of Acute Lung Injury Induced by Cardiopulmonary Bypass in Pediatric Patients Undergoing Surgery for Congenital Heart Defects	Recruiting	NCT05253209	Phase 3	L-citrulline;Plasmalyte A
5	Trial of ACE Inhibition in Children With Mitral Regurgitation After Repair of AVSD	Terminated	NCT00113698	Phase 3	Enalapril
6	Effects of Adding Oral Sildenafil to Intravenous Milrinone on Postoperative Pulmonary Hypertension in Pediatric Undergoing Repair of Ventricular Septal Defect	Completed	NCT02595541	Phase 1, Phase 2	milrinone;Sildenafil
7	Use of Ketamine Prior to Cardiopulmonary Bypass in Children	Completed	NCT00556361	Phase 2	saline;ketamine
8	Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass	Completed	NCT01120964	Phase 1, Phase 2	Intravenous L-Citrulline;Placebo of Intravenous L-Citrulline
9	Stress Response in Children Undergoing Cardiac Surgery: a Prospective Randomized Comparison Between Low Dose Fentanyl (LDF), Low Dose Fentanyl Plus Dexmedetomidine (LDF + Dex) and High Dose Fentanyl (HDF).	Completed	NCT00848393	Phase 2	Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
10	The Use of Hypertonic Saline Dextran in Cardiac Surgery Utilizing Cardio Pulmonary Bypass in Children Less Than 17 Weeks Old.	Completed	NCT00199771	Phase 2	7.5% NaCl in 6% dextran 70 solution
11	Optical Tissue Identification for Myocardial Architecture (OPTIMA Study)	Active, not recruiting	NCT04017975	Phase 2	Fluorescite
12	A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics	Completed	NCT01915277	Phase 1	Dexmedetomidine
13	Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER	Completed	NCT00578708	Phase 1
14	Phase 1 Study of the Safety and Pharmacokinetics of Perioperative IV L-carnitine Administration in Patients With Congenital Heart Disease With Increased Pulmonary Blood Flow	Withdrawn	NCT01825369	Phase 1	IV L-carnitine
15	Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect	Unknown status	NCT00173186
16	Changes in Ventricular Remodeling and Exercise Cardiopulmonary Function After Transcatheter Closure of Ventricular Septal Defect	Unknown status	NCT03127748
17	Chinese Academy of Medical Sciences, Fuwai Hospital	Unknown status	NCT03941691
18	Study of Energy Expenditure in Infants With Ventricular Septal Defects	Unknown status	NCT00006272
19	Ad Hoc Analysis for the Evaluation of Dynamic Pulmonary Vascular Resistance in Patients With a Closed Ventricular Septal Defect	Completed	NCT02648984
20	Cardiopulmonary Function in Adults Born With a Ventricular Septal Defect	Completed	NCT03684161
21	Cardiac Output During Exercise in Young Adults Operated for Ventricular Septal Defect as Children	Completed	NCT02138435
22	Transcatheter Versus Surgical Closure of Ventricular Septal Defect: A Comparative Study	Completed	NCT05306483
23	The Effect of Transcatheter Ventricular Septal Defect Closure on Heart Rate Variability Parameters	Completed	NCT04859036
24	The Effect of Remote Ischemic Preconditioning on the Ischemic Reperfusion Injury in Infants With Ventricular Septal Defect and Pulmonary Hypertension	Completed	NCT01313832
25	Femoral Allogenic Vein Valved Conduit for Palliative Repair of Pulmonary Atresia With Ventricular Septal Defect	Completed	NCT02861963
26	Postoperative Right Bundle Branch Block - Long-term Effect on the Right Ventricle in Children Operated for Ventricular Septal Defect	Completed	NCT01480908
27	Mechanical Complications of Acute Myocardial Infarction: an International Multicenter Cohort Study (CAUTION Study 1)	Completed	NCT03848429
28	The AMPLATZER™ Post-infarct Muscular VSD Occluder Humanitarian Device Exemption (H070005) Post Approval Study	Completed	NCT03165526
29	Nutritional, Hormonal and Anthropometric Evaluation of Children After Transcatheter VSD Closure	Completed	NCT05200910
30	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
31	Prospective, Monocentric Study for the Evaluation of Latent Pulmonary Arterial Hypertension in Patients With Congenital Shunt Lesions Lost to Follow-up.	Completed	NCT02552485
32	Precision Assessment of Perioperative Effectiveness and Safety of Transthoracic Minimally Invasive Hybrid Closure for Pediatric Ventricular Septal Defects	Completed	NCT02794584		sufentanil anesthesia
33	Clinical Evaluation of Transcatheter Closure and Surgery of Perimembranous Ventricular Septal Defects	Completed	NCT00890799
34	Closure of Muscular Ventricular Septal Defects With The AMPLATZER™ Muscular VSD Occluder	Completed	NCT00583791
35	International Multicentre Clinical Device Investigation on Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System for VSD Occlusion Developed by Pfm AG, Cologne	Completed	NCT00390702
36	Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005546
37	Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease	Completed	NCT00005322
38	Reproduction and Survival After Cardiac Defect Repair	Completed	NCT00005190
39	Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX)	Recruiting	NCT04452188
40	Amplatzer™ Trevisio™ Delivery System Post-Approval Study	Recruiting	NCT04433520
41	A Multicenter, International, Follow-up Study to Monitor the Efficacy and Safety of the Occlutech® Perimembranous Ventricular Septal Defect (PmVSD) Occluder in Patients With Perimembranous Ventricular Septal Defects	Recruiting	NCT04034498
42	Lifetech KONAR-MF™ VSD Occluder Post-Market Clinical Follow-Up Study Clinical Investigation Plan	Recruiting	NCT04417712
43	French Observatory of Congenital Ventricular Septal Defect With Pulmonary Overload	Active, not recruiting	NCT03363932
44	A Multicenter, International, Follow-up Study to Monitor the Efficacy and Safety of the Occlutech® Muscular Ventricular Septal Defect (mVSD) Occluder in Patients With Muscular Ventricular Septal Defects	Active, not recruiting	NCT05329350
45	Closure of Muscular Ventricular Septal Defects (VSDs) With the AMPLATZER Muscular VSD (MuVSD) Occluder - Post Approval Study	Active, not recruiting	NCT00647387
46	Improving Care for Children With Congenital Heart Disease by Cardiovascular Biomarker Profiling and Advanced Non-invasive Cardiac Imaging Techniques.	Enrolling by invitation	NCT04667455
47	Optimal Timing for Repair of Left-to-Right Shunt Lesions	Terminated	NCT00229827
48	Rhythm Disturbances After Ventricular Septal Defects	Terminated	NCT00208624

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 ²⁸

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Anatomical Context for Ventricular Septal Defect

Organs/tissues related to Ventricular Septal Defect:

MalaCards : Heart, Lung, Smooth Muscle, Brain, Kidney, Endothelial, Liver

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Publications for Ventricular Septal Defect

Articles related to Ventricular Septal Defect:

(show top 50) (show all 14552)

#	Title	Authors	PMID	Year
1	A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. ⁵	Szot JO...Dunwoodie SL	29555671	2018
2	Familial transposition of the great arteries caused by multiple mutations in laterality genes. ⁵³ ⁶²	De Luca A...Dallapiccola B	19933292	2010
3	GATA4 mutations in Chinese patients with congenital cardiac septal defects. ⁵³ ⁶²	Chen MW...Liu TW	19915893	2010
4	B-type natriuretic peptide and heart failure in patients with ventricular septal defect: a pilot study. ⁵³ ⁶²	Paul MA...Franklin WH	19636481	2009
5	[Novel NKX2-5 mutations identified in patients with congenital ventricular septal defects]. ⁵³ ⁶²	Liu XY...Chen YH	20137692	2009
6	GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease. ⁵³ ⁶²	Zhang WM...Li ZZ	19302747	2009
7	Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population. ⁵³ ⁶²	Liu CX...Li ZZ	19187613	2009
8	Noninvasive estimation of left ventricular end-diastolic pressure using tissue Doppler imaging combined with pulsed-wave Doppler echocardiography in patients with ventricular septal defects: a comparison with the plasma levels of the B-type natriuretic Peptide. ⁵³ ⁶²	Oyamada J...Harada K	18307440	2008
9	Paradoxical relationship between B-type natriuretic peptide and pulmonary vascular resistance in patients with ventricular septal defect and concomitant severe pulmonary hypertension. ⁵³ ⁶²	Toyono M...Takada G	17786380	2008
10	Brain natriuretic peptide levels before and after ventricular septal defect repair. ⁵³ ⁶²	Mainwaring RD...Fallah H	18036937	2007
11	Plasma brain natriuretic peptide and systemic ventricular function in asymptomatic patients late after the Fontan procedure. ⁵³ ⁶²	Man BL...Cheung YF	18043998	2007
12	Correlation of plasma B-type natriuretic peptide with shunt severity in patients with atrial or ventricular septal defect. ⁵³ ⁶²	Ozhan H...Yazici M	17530321	2007
13	Relationship between pericardial fluid B-type natriuretic peptide and ventricular structure and function. ⁵³ ⁶²	Chen LP...Wang LX	17350484	2007
14	Clinical signs of heart failure are associated with increased levels of natriuretic peptide types B and A in children with congenital heart defects or cardiomyopathy. ⁵³ ⁶²	Westerlind A...Holmgren D	15124836	2004
15	Clinical implication of plasma natriuretic peptides in children with ventricular septal defect. ⁵³ ⁶²	Suda K...Matsumoto M	12828576	2003
16	Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. ⁵³ ⁶²	Donovan J...Utset MF	12372254	2002
17	Endovascular Repair of an Intrathoracic Subclavian Artery Aneurysm in a Patient With Dextrocardia. ⁶²	Motaganahalli AR...Sawchuk AP	35675973	2023
18	Intravascular ultrasound-guided transcaval approach for thoracic endovascular aneurysm repair. ⁶²	Dhara SS...Milner R	36262916	2022
19	Outcomes of Gastrostomy Tubes in Newborns With Congenital Heart Disease and Comparison of Techniques. ⁶²	Huerta CT...Thorson CM	36063624	2022
20	Monitoring of intraoperative femoral oxygenation predicts acute kidney injury after pediatric cardiac surgery. ⁶²	Inoue T...Miyaji K	36032034	2022
21	Effect of aortic arch surgery in newborns' cerebral and gastrointestinal hemodynamics: evaluation by Doppler ultrasonography. ⁶²	Ozturk E...Guzeltas A	33827365	2022
22	Transcatheter closure of large perimembranous ventricular septal defects with inlet to outlet extension with the Amplatzer Vascular Plug-II. ⁶²	Piccinelli E...Fraisse A	36468549	2022
23	Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study. ⁶²	Chen Q...Wang S	36242740	2022
24	A fully degradable transcatheter ventricular septal defect occluder: Towards rapid occlusion and post-regeneration absorption. ⁶²	Guo G...Zhang X	36401954	2022
25	Impact of liver dysfunction on outcomes in children with Alagille syndrome undergoing congenital heart surgery. ⁶²	Mainwaring RD...Hanley FL	36458925	2022
26	Status of adult outpatients with congenital heart disease in Japan: The Japanese Network of Cardiovascular Departments for Adult Congenital Heart Disease Registry. ⁶²	Yao A...JNCVD-ACHD investigators	35995687	2022
27	A rare case of isolated single coronary artery, Lipton's type LIIB diagnosed by computed tomography coronary angiography. ⁶²	Bhattarai V...Chettry S	36204404	2022
28	A rare combination of pulmonary atresia with ventricular septal defect and congenital aortic stenosis with rheumatic mitral disease in an adolescent. ⁶²	Arora GK...Ahmed AS	33840041	2022
29	Prenatal diagnosis of major aortopulmonary collateral arteries (MAPCA) in fetuses with pulmonary atresia with ventricular septal defect and agenesis of ductus arteriosus. ⁶²	Gindes L...Achiron R	33525939	2022
30	Computed tomography in tetralogy of Fallot: pre- and postoperative imaging evaluation. ⁶²	Zucker EJ	34427695	2022
31	An exceptional survival in an unoperated tetralogy of Fallot in a 66-year-old man: A case report. ⁶²	Rayamajhi S...Mahaseth A	36281282	2022
32	Eisenmenger Syndrome Among Children with Unrepaired Congenital Heart Defects in Yunnan, China. ⁶²	Guo F...Detrano RC	35522268	2022
33	Prenatal diagnosis of isolated perimembranous ventricular septal defects undergoing primary surgical repair in infancy. ⁶²	Evans WN...Restrepo H	34139939	2022
34	Impact of Hospital Volume on Outcomes of Septal Myectomy for Hypertrophic Cardiomyopathy. ⁶²	Holst KA...Dearani JA	35779600	2022
35	Aortic-to-Right Ventricle Shunting for Rare Cardiovascular Conditions. ⁶²	Miwa K...Nagashima T	35231433	2022
36	Tricuspid Valve Endocarditis in Four Patients with Unrepaired Restrictive Perimembranous Ventricular Septal Defects. ⁶²	Butensky AM...Holzer S	35657420	2022
37	Ventricular septal defect and aortic hypoplasia in congenital cytomegalovirus infection: occasional finding or underdetected correlation? ⁶²	Gianolio L...Zuccotti GV	33910458	2022
38	Prenatal Diagnosis and Postnatal Outcome of Eight Cases with Criss-Cross Heart - A Multicenter Case Series. ⁶²	Vorisek CN...Axt-Fliedner R	32674186	2022
39	Exploring Noncardiac Surgical Needs From Infancy to Adulthood in Patients With Congenital Heart Disease. ⁶²	Hamilton ARL...Yuki K	36216687	2022
40	Severe Restriction of a VSD and Development of Pulmonary Atresia in a Patient with Transposition of the Great Arteries: Fetal Diagnosis. ⁶²	Duignan S...Franklin O	35767020	2022
41	Contemporary outcomes of the double switch operation for congenitally corrected transposition of the great arteries. ⁶²	Marathe SP...Baird CW	35688715	2022
42	Mid-term outcomes of right subaxillary approach versus median sternotomy incision for ventricular septal defect with patent ductus arteriosus. ⁶²	Qiu ZH...Chen LW	36443708	2022
43	Outcomes of Children with Unoperated Congenital Heart Disease Admitted to PICU-A Single-Center Experience. ⁶²	Banothu KK...Lodha R	35201562	2022
44	Atrioventricular septal defect with an absent or tiny ostium primum defect: a case series of three surgical cases. ⁶²	Suzuki M...Fukae K	36258832	2022
45	Right-sided Infective Endocarditis with Ventricular Free Wall Vegetation Caused by Abiotrophia defectiva in a Patient with Unrepaired Ventricular Septal Defect. ⁶²	Miyawaki N...Furukawa Y	35431307	2022
46	Can Pediatric Heart Failure Therapy Be Improved? Yes It Can, But…. ⁶²	Schranz D	35931946	2022
47	Peratrial device closure of perimembranous ventricular septal defects via a small right subaxillary incision: Midterm results in patients <12 months of age. ⁶²	Song S...Fan T	36460210	2022
48	Tricuspid valve detachment for ventricular septal defect closure: A meta-analysis of existing evidence. ⁶²	Yuan D...Qian Y	36378918	2022
49	Swiss Evaluation Registry for Pediatric Infective Endocarditis (SERPIE) - Risk factors for complications in children and adolescents with infective endocarditis. ⁶²	Schuler SK...Knirsch W	36334644	2022
50	A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly. ⁶²	Kuan CY...Kuo TN	36427979	2022

Sources

Genes for Ventricular Septal Defect

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

(show top 50) (show all 69)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FOXP4	Forkhead Box P4	Protein Coding	428.82	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
2	TBX5	T-Box Transcription Factor 5	Protein Coding	423.02	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	29555671 19187613
3	FGF10-AS1	FGF10 Antisense RNA 1	RNA Gene	155.3	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	24147006
4	SMAD1-AS1	SMAD1 Antisense RNA 1	RNA Gene	150	Experimental evidence: Expression ³⁷	24147006
5	NKX2-5	NK2 Homeobox 5	Protein Coding	33.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	20137692 19933292
6	GATA4	GATA Binding Protein 4	Protein Coding	32.55	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19915893 19302747
7	FOXF1	Forkhead Box F1	Protein Coding	30.16	Likely pathogenic ⁵ DISEASES inferred ¹⁴
8	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	30.14	Likely pathogenic ⁵ DISEASES inferred ¹⁴
9	AAR2	AAR2 Splicing Factor	Protein Coding	28.76	Likely pathogenic ⁵ DISEASES inferred ¹⁴
10	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	28.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴
11	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	25	Likely pathogenic ⁵
12	GATA6	GATA Binding Protein 6	Protein Coding	23.78	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
13	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	18.22	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	12372254
14	NPPB	Natriuretic Peptide B	Protein Coding	17.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18036937 12828576 15124836 (more) 17530321 18043998 18307440 17786380 17350484 19636481
15	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	14.61	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	ZIC3	Zic Family Member 3	Protein Coding	14.51	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
17	GATA5	GATA Binding Protein 5	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
18	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	14.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
19	GDF1	Growth Differentiation Factor 1	Protein Coding	14.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
20	NODAL	Nodal Growth Differentiation Factor	Protein Coding	13.9	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
21	NPPA	Natriuretic Peptide A	Protein Coding	13.73	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	13.37	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
23	ECE1	Endothelin Converting Enzyme 1	Protein Coding	12.27	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
24	BCOR	BCL6 Corepressor	Protein Coding	12.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	SOX4	SRY-Box Transcription Factor 4	Protein Coding	11.83	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
26	MCTP2	Multiple C2 And Transmembrane Domain Containing 2	Protein Coding	11.76	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
27	RAD21	RAD21 Cohesin Complex Component	Protein Coding	11.67	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
28	TCTN3	Tectonic Family Member 3	Protein Coding	11.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
29	DDX11	DEAD/H-Box Helicase 11	Protein Coding	11.56	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	MIR17	MicroRNA 17	RNA Gene	9	DISEASES inferred ¹⁴ ¹⁴
31	MIR499A	MicroRNA 499a	RNA Gene	8.89	DISEASES inferred ¹⁴ ¹⁴
32	PRODH	Proline Dehydrogenase 1	Protein Coding	8.56	DISEASES inferred ¹⁴ ¹⁴
33	MIR590	MicroRNA 590	RNA Gene	8.36	DISEASES inferred ¹⁴ ¹⁴
34	MIR199A1	MicroRNA 199a-1	RNA Gene	8.24	DISEASES inferred ¹⁴ ¹⁴
35	AVSD1	Atrioventricular Septal Defect 1	Genetic Locus	8.23	GeneCards inferred via : Gene name (show sections)
36	ZFHX3	Zinc Finger Homeobox 3	Protein Coding	7.83	DISEASES inferred ¹⁴ ¹⁴
37	TBX20	T-Box Transcription Factor 20	Protein Coding	7.77	DISEASES inferred ¹⁴
38	EXOC2	Exocyst Complex Component 2	Protein Coding	7.64	GeneCards inferred via : Disorders (show sections)
39	SLC12A2	Solute Carrier Family 12 Member 2	Protein Coding	7.64	GeneCards inferred via : Disorders (show sections)
40	TKT	Transketolase	Protein Coding	7.64	GeneCards inferred via : Disorders (show sections)
41	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	7.58	DISEASES inferred ¹⁴
42	MIR423	MicroRNA 423	RNA Gene	7.45	DISEASES inferred ¹⁴ ¹⁴
43	TBX1	T-Box Transcription Factor 1	Protein Coding	7.31	DISEASES inferred ¹⁴
44	MIR15B	MicroRNA 15b	RNA Gene	7.28	DISEASES inferred ¹⁴ ¹⁴
45	ISL1	ISL LIM Homeobox 1	Protein Coding	7.24	DISEASES inferred ¹⁴
46	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	7.07	DISEASES inferred ¹⁴
47	MYH6	Myosin Heavy Chain 6	Protein Coding	6.97	DISEASES inferred ¹⁴
48	H2AC18	H2A Clustered Histone 18	Protein Coding	6.92	DISEASES inferred ¹⁴ ¹⁴
49	GJA5	Gap Junction Protein Alpha 5	Protein Coding	6.83	DISEASES inferred ¹⁴
50	PITX2	Paired Like Homeodomain 2	Protein Coding	6.74	DISEASES inferred ¹⁴

Sources

Variations for Ventricular Septal Defect

ClinVar genetic disease variations for Ventricular Septal Defect:

⁵ (show all 31)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TBX5	NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter)	SNV	Pathogenic	495227	rs1555223259	GRCh37: 12:114793673-114793673 GRCh38: 12:114355868-114355868
2	overlap with 7 genes	GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)	CN LOSS	Pathogenic	638672		GRCh37: 22:22971867-23643138 GRCh38:
3	overlap with 34 genes		COMPLEX	Pathogenic	638670		GRCh37: 15:22676913-30137106 GRCh38:
4	FOXP4	NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)	SNV	Pathogenic	1472670		GRCh37: 6:41562611-41562611 GRCh38: 6:41594873-41594873
5	AAR2	NM_001271874.2(AAR2):c.520G>A (p.Val174Met)	SNV	Likely Pathogenic	242897	rs746800707	GRCh37: 20:34828310-34828310 GRCh38: 20:36240388-36240388
6	SMARCA4	NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)	SNV	Likely Pathogenic	816865	rs1085307769	GRCh37: 19:11134234-11134234 GRCh38: 19:11023558-11023558
7	FOXF1	NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)	SNV	Likely Pathogenic	374061	rs1057518868	GRCh37: 16:86544455-86544455 GRCh38: 16:86510849-86510849
8	overlap with 61 genes	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	DEL	Likely Pathogenic	208506		GRCh37: 14:73152115-77698582 GRCh38:
9	RPS6KA3	NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)	SNV	Likely Pathogenic	374121	rs1057518914	GRCh37: X:20211665-20211665 GRCh38: X:20193547-20193547
10	FOXP4	NM_001012426.2(FOXP4):c.815del (p.Leu272fs)	DEL	Likely Pathogenic	242887	rs1114167294	GRCh37: 6:41555193-41555193 GRCh38: 6:41587455-41587455
11	BRAF	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	SNV	Likely Pathogenic	13978	rs180177039	GRCh37: 7:140477806-140477806 GRCh38: 7:140778006-140778006
12	ASXL3	NM_030632.3(ASXL3):c.1354G>A (p.Glu452Lys)	SNV	Uncertain Significance	917519	rs2067593629	GRCh37: 18:31318722-31318722 GRCh38: 18:33738758-33738758
13	COL1A2	NM_000089.4(COL1A2):c.280-7T>C	SNV	Uncertain Significance	978557	rs750868020	GRCh37: 7:94033861-94033861 GRCh38: 7:94404549-94404549
14	FBN2	NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)	SNV	Uncertain Significance	978558	rs1765343397	GRCh37: 5:127610307-127610307 GRCh38: 5:128274615-128274615
15	OBSL1	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	SNV	Uncertain Significance	598981	rs749541061	GRCh37: 2:220424193-220424193 GRCh38: 2:219559471-219559471
16	OBSL1	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	SNV	Uncertain Significance	598982	rs560246798	GRCh37: 2:220423067-220423067 GRCh38: 2:219558345-219558345
17	GATA4	NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)	SNV	Uncertain Significance	599008	rs773545065	GRCh37: 8:11565915-11565915 GRCh38: 8:11708406-11708406
18	RYR1	NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys)	SNV	Uncertain Significance	133221	rs193922829	GRCh37: 19:38995701-38995701 GRCh38: 19:38505061-38505061
19	FLNA	NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys)	SNV	Uncertain Significance	617640	rs781928289	GRCh37: X:153588145-153588145 GRCh38: X:154359777-154359777
20	ERF	NM_006494.4(ERF):c.1636C>T (p.Arg546Ter)	SNV	Uncertain Significance	599007	rs764412749	GRCh37: 19:42752628-42752628 GRCh38: 19:42248476-42248476
21	FLVCR2	GRCh37/hg19 14q24.3(chr14:76105695-76107636)	CN LOSS	Uncertain Significance	523310		GRCh37: 14:76105695-76107636 GRCh38:
22	LRP1	NM_002332.3(LRP1):c.1576C>G (p.Leu526Val)	SNV	Uncertain Significance	816915	rs770169648	GRCh37: 12:57552199-57552199 GRCh38: 12:57158416-57158416
23	LRP1	NM_002332.3(LRP1):c.13559C>G (p.Ser4520Cys)	SNV	Uncertain Significance	816916	rs1396150729	GRCh37: 12:57606262-57606262 GRCh38: 12:57212479-57212479
24	HUWE1	NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)	SNV	Uncertain Significance	523539	rs1556948950	GRCh37: X:53596615-53596615 GRCh38: X:53569655-53569655
25	MYCN	NM_005378.6(MYCN):c.1226C>T (p.Pro409Leu)	SNV	Uncertain Significance	523483	rs1553371013	GRCh37: 2:16086050-16086050 GRCh38: 2:15945928-15945928
26	overlap with 5 genes	GRCh37/hg19 15q26.3(chr15:100923767-101626187)	CN LOSS	Uncertain Significance	638671		GRCh37: 15:100923767-101626187 GRCh38:
27	LONP1	NM_004793.4(LONP1):c.296G>A (p.Gly99Asp)	SNV	Uncertain Significance	722777	rs747867148	GRCh37: 19:5719848-5719848 GRCh38: 19:5719837-5719837
28	DPH2	NM_001384.5(DPH2):c.922C>T (p.Gln308Ter)	SNV	Uncertain Significance	872918	rs755058688	GRCh37: 1:44437496-44437496 GRCh38: 1:43971824-43971824
29	DPH2	NM_001384.5(DPH2):c.601C>T (p.Arg201Cys)	SNV	Uncertain Significance	872919	rs767455462	GRCh37: 1:44437175-44437175 GRCh38: 1:43971503-43971503
30	CHD7	NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)	SNV	Uncertain Significance	158308	rs201083157	GRCh37: 8:61765534-61765534 GRCh38: 8:60852975-60852975
31	SMARCA4	NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)	SNV	Likely Benign	374051	rs1057518862	GRCh37: 19:11101938-11101938 GRCh38: 19:10991262-10991262

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:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.44	ZIC3 ZFPM2 SMARCA4 RPS6KA3 NODAL GDF1
2	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.18	TBX5 NPPB NKX2-5 GATA4
3	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.61	TBX5 NKX2-5 GATA4
4	Endoderm differentiation ⁷⁴	11.43	NODAL GATA6 GATA4
5	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.29	ZIC3 GATA6 GATA4
6	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.22	TBX5 SMARCA4 NODAL NKX2-5 GATA4 FOXF1
7	Cardiac progenitor differentiation ⁷⁴	11.18	TBX5 NODAL NKX2-5 GATA4
8	Heart development ⁷⁴	10.93	TBX5 NKX2-5 GATA6 GATA4
9	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.84	NPPB NKX2-5 GATA4
10	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.61	TBX5 NKX2-5 GATA4
11	HOP Signaling ⁶⁴	10.15	GATA4 NKX2-5

Sources

GO Terms for Ventricular Septal Defect

Cellular components related to Ventricular Septal Defect according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.62	ZFPM2 TBX5 SMARCA4 NKX2-5 GATA6 GATA5

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

(show all 46)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.53	CITED2 FOXF1 FOXP4 GATA4 GATA5 GATA6
2	negative regulation of transcription by RNA polymerase II	GO:0000122	10.51	CITED2 FOXF1 FOXP4 GATA4 GATA5 GATA6
3	regulation of DNA-templated transcription	GO:0006355	10.3	TBX5 SMARCA4 NKX2-5 GATA6 GATA5 GATA4
4	cell differentiation	GO:0030154	10.3	BRAF CITED2 GATA4 GATA5 GATA6 NKX2-5
5	positive regulation of DNA-templated transcription	GO:0045893	10.28	CITED2 FOXF1 GATA4 GATA5 GATA6 NKX2-5
6	positive regulation of transcription by RNA polymerase II	GO:0045944	10.27	CITED2 FOXF1 GATA4 GATA5 GATA6 JAG1
7	in utero embryonic development	GO:0001701	10.24	ZFPM2 NODAL GATA6 FOXF1 CITED2
8	vasculogenesis	GO:0001570	10.18	ZFPM2 NKX2-5 FOXF1 CITED2
9	lung development	GO:0030324	10.18	ZIC3 ZFPM2 TBX5 NODAL FOXF1
10	ventricular septum morphogenesis	GO:0060412	10.14	CITED2 NKX2-5 ZFPM2
11	determination of left/right symmetry	GO:0007368	10.14	ZIC3 NODAL FOXF1 CITED2
12	cell fate commitment	GO:0045165	10.13	GATA4 GATA5 GATA6 NODAL
13	positive regulation of cardiac muscle cell proliferation	GO:0060045	10.11	GATA6 TBX5 ZFPM2
14	outflow tract septum morphogenesis	GO:0003148	10.1	ZFPM2 NKX2-5 GATA6
15	cardiac muscle cell proliferation	GO:0060038	10.1	TBX5 NKX2-5 GATA6
16	aortic valve morphogenesis	GO:0003180	10.1	NKX2-5 JAG1 GATA5 GATA4
17	heart looping	GO:0001947	10.07	CITED2 GATA4 NKX2-5 NODAL ZIC3
18	ventricular septum development	GO:0003281	10.04	TBX5 GATA4 CITED2
19	atrial septum morphogenesis	GO:0060413	10.04	TBX5 NKX2-5 GATA4
20	intestinal epithelial cell differentiation	GO:0060575	10.01	GATA6 GATA5 GATA4
21	atrioventricular canal development	GO:0036302	10	GATA6 GATA4
22	embryonic foregut morphogenesis	GO:0048617	9.99	GATA4 FOXF1
23	sinoatrial node development	GO:0003163	9.99	GATA6 TBX5
24	positive regulation of male gonad development	GO:2000020	9.98	CITED2 ZFPM2
25	embryonic process involved in female pregnancy	GO:0060136	9.98	NODAL CITED2
26	anatomical structure morphogenesis	GO:0009653	9.98	ZFPM2 GATA6 GATA5 GATA4
27	pulmonary artery morphogenesis	GO:0061156	9.97	JAG1 CITED2
28	embryonic heart tube left/right pattern formation	GO:0060971	9.97	NKX2-5 CITED2
29	inhibition of neuroepithelial cell differentiation	GO:0002085	9.96	JAG1 NODAL
30	atrioventricular node cell development	GO:0060928	9.96	TBX5 NKX2-5
31	atrial cardiac muscle tissue development	GO:0003228	9.96	ZIC3 NKX2-5
32	bundle of His development	GO:0003166	9.95	TBX5 NKX2-5
33	atrioventricular node development	GO:0003162	9.95	GATA4 GATA6 NKX2-5
34	nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry	GO:1900164	9.94	NODAL CITED2
35	right ventricular cardiac muscle tissue morphogenesis	GO:0003221	9.92	NKX2-5 ZFPM2
36	atrioventricular node cell fate commitment	GO:0060929	9.91	NKX2-5 TBX5
37	cardiac muscle cell differentiation	GO:0055007	9.91	TBX5 NKX2-5 GATA6 GATA4
38	primitive streak formation	GO:0090009	9.87	ZIC3 NODAL
39	cardiac ventricle morphogenesis	GO:0003208	9.87	NKX2-5 GATA4
40	left/right pattern formation	GO:0060972	9.86	ZIC3 CITED2
41	endocardial cushion development	GO:0003197	9.86	TBX5 GATA4 FOXF1 CITED2
42	cardiac muscle tissue development	GO:0048738	9.8	ZFPM2 NKX2-5 GATA6 GATA5
43	animal organ development	GO:0048513	9.76	ZFPM2 JAG1 GATA6 GATA4
44	system development	GO:0048731	9.72	ZFPM2 GATA6 GATA4
45	positive regulation of cardioblast differentiation	GO:0051891	9.56	TBX5 NKX2-5 GATA6 GATA4
46	heart development	GO:0007507	9.44	ZIC3 ZFPM2 TBX5 NODAL NKX2-5 GATA5

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

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	10.34	ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4
2	DNA binding	GO:0003677	10.22	ZIC3 ZFPM2 TBX5 SMARCA4 NKX2-5 GATA6
3	DNA-binding transcription factor activity	GO:0003700	10	ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4
4	transcription cis-regulatory region binding	GO:0000976	9.91	FOXF1 GATA4 GATA5 GATA6 NKX2-5
5	RNA polymerase II-specific DNA-binding transcription factor binding	GO:0061629	9.7	CITED2 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
6	NFAT protein binding	GO:0051525	9.67	GATA4 GATA6
7	cis-regulatory region sequence-specific DNA binding	GO:0000987	9.58	GATA6 GATA5 GATA4
8	sequence-specific DNA binding	GO:0043565	9.44	ZIC3 TBX5 NKX2-5 GATA6 GATA5 GATA4

Sources

Sources for Ventricular Septal Defect

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

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⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁵ R&D Systems

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: VNT002 MIFTS: 58	Ventricular Septal Defect Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
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