MCID: HRT011
MIFTS: 43

Heart Septal Defect

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Septal Defect

MalaCards integrated aliases for Heart Septal Defect:

Name: Heart Septal Defect 12 15
Heart Septal Defects 44 73
Septal Defect 12 55
Congenital Septal Defect of Heart 12
Cardiac Septal Defects 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1681
ICD10 33 Q21 Q21.9
MeSH 44 D006343
NCIt 50 C84482
UMLS 73 C0018816

Summaries for Heart Septal Defect

MalaCards based summary : Heart Septal Defect, also known as heart septal defects, is related to atrial septal defect 4 and ventricular septal defect. An important gene associated with Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Mesodermal Commitment Pathway and BMP Pathway. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include heart and brain, and related phenotypes are cardiovascular system and cellular

Related Diseases for Heart Septal Defect

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

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 4 32.2 CITED2 GATA4 GATA6 NKX2-5 TBX20 TBX5
2 ventricular septal defect 31.0 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
3 atrial heart septal defect 30.4 ACVRL1 CFC1 CLNK CRELD1 GATA4 GATA6
4 atrioventricular septal defect 30.3 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
5 heart disease 26.8 CFC1 CITED2 CRELD1 GATA4 GATA6 GDF1
6 atrial heart septal defect 7 12.3
7 lymphedema, cardiac septal defects, and characteristic facies 12.2
8 cardiac septal defects with coarctation of the aorta 12.1
9 atrial septal defect 1 11.7
10 atrial septal defect 2 11.7
11 atrial septal defect 5 11.7
12 atrial septal defect 6 11.7
13 atrial septal defect 3 11.7
14 hypotonia, infantile, with psychomotor retardation 11.6
15 atrial septal defect 8 11.6
16 atrial septal defect 9 11.6
17 cardiospondylocarpofacial syndrome 11.1
18 hyperphosphatasia with mental retardation syndrome 2 11.1
19 congenital disorder of glycosylation, type iil 10.9
20 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.9
21 koolen-de vries syndrome 10.9
22 complete atrioventricular canal-tetralogy of fallot syndrome 10.8 CRELD1 GATA4
23 complete atrioventricular canal-left heart obstruction syndrome 10.8 CRELD1 GATA4
24 pulmonary valve stenosis 10.6 GATA4 NKX2-6 TBX5
25 transposition of the great arteries 10.6 GDF1 NKX2-5 ZFPM2
26 total anomalous pulmonary venous return 1 10.6 CRELD1 GDF1 NKX2-6
27 atrioventricular block 10.6 GATA4 NKX2-5 TBX5
28 char syndrome 10.5 CITED2 NKX2-5 TBX5
29 dextro-looped transposition of the great arteries 10.5 CFC1 GDF1 NKX2-6
30 46,xy partial gonadal dysgenesis 10.5 GATA4 ZFPM2
31 partial atrioventricular canal 10.5 CRELD1 GATA4 GATA6
32 complete atrioventricular canal-ventricle hypoplasia syndrome 10.5 CRELD1 GATA4 GATA6
33 hypoplastic left heart syndrome 10.5 NKX2-5 NKX2-6 TBX20
34 holt-oram syndrome 10.5 NKX2-5 TBX1 TBX5
35 dextrocardia with situs inversus 10.5 CITED2 NODAL
36 patent foramen ovale 10.4 GATA4 NKX2-5 TBX20 TBX5
37 discrete subaortic stenosis 10.4 CRELD1 NODAL
38 esophageal atresia/tracheoesophageal fistula 10.3 NKX2-6 TBX1
39 diaphragmatic hernia, congenital 10.2 GATA4 GATA6 ZFPM2
40 ebstein anomaly 10.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
41 visceral heterotaxy 10.2 CFC1 GDF1 NODAL
42 familial atrial fibrillation 10.2 GATA4 GATA6 NKX2-5 NKX2-6
43 pulmonary valve disease 10.1 CRELD1 GATA4 GATA6 NKX2-6 TBX5
44 patent ductus arteriosus 1 10.0 CRELD1 GATA4 GATA6 GDF1 NKX2-6
45 right atrial isomerism 9.8 BMP10 GDF1
46 tricuspid atresia 9.7 CRELD1 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
47 pulmonary hypertension, primary, 1 9.7
48 cleft palate, isolated 9.7
49 floating-harbor syndrome 9.7
50 intracranial hypertension, idiopathic 9.7

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



Diseases related to Heart Septal Defect

Symptoms & Phenotypes for Heart Septal Defect

MGI Mouse Phenotypes related to Heart Septal Defect:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.44 ZFPM2 CRELD1 BMP10 GATA4 CITED2 ACVRL1
2 cellular MP:0005384 10.37 ZFPM2 CRELD1 BMP10 GATA4 CA5B GATA6
3 embryo MP:0005380 10.35 CRELD1 BMP10 GATA4 CITED2 ACVRL1 MESP1
4 growth/size/body region MP:0005378 10.33 ACVRL1 BMP10 GATA4 CA5B CITED2 GATA6
5 homeostasis/metabolism MP:0005376 10.25 ZFPM2 CITED2 ACVRL1 BMP10 GATA4 CA5B
6 mortality/aging MP:0010768 10.25 ZFPM2 ACVRL1 CRELD1 BMP10 GATA4 CA5B
7 hematopoietic system MP:0005397 10.21 CITED2 ACVRL1 CLNK BMP10 GATA4 MEF2C
8 craniofacial MP:0005382 10.16 CITED2 ACVRL1 CRELD1 MESP1 GDF1 MEF2C
9 digestive/alimentary MP:0005381 10.04 CITED2 ACVRL1 GDF1 GATA4 TBX1 NODAL
10 muscle MP:0005369 10.03 ZFPM2 ACVRL1 BMP10 GATA4 GATA6 MESP1
11 limbs/digits/tail MP:0005371 9.91 CITED2 BMP10 GATA4 MEF2C GATA6 TBX1
12 nervous system MP:0003631 9.85 CITED2 ACVRL1 CRELD1 MEF2C MESP1 GDF1
13 normal MP:0002873 9.83 ZFPM2 BMP10 GATA4 CITED2 ACVRL1 MESP1
14 respiratory system MP:0005388 9.4 ZFPM2 GATA4 CITED2 ACVRL1 GATA6 MESP1

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 134)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-78-2 2244
2
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Not Applicable 120202-66-6, 113665-84-2 60606
3
Ticlopidine Approved Phase 4 55142-85-3 5472
4
Warfarin Approved Phase 4,Phase 2,Phase 3 81-81-2 6691 54678486
5
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 113775-47-6 68602 5311068
6
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
7
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
8
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
9
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
10
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
11
Racepinephrine Approved Phase 4 329-65-7 838
12 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Not Applicable
16 Antipyretics Phase 4,Phase 2,Phase 3,Not Applicable
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
19 Cytochrome P-450 Enzyme Inhibitors Phase 4
20 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
23 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Purinergic P2 Receptor Antagonists Phase 4,Phase 2
25 Purinergic P2Y Receptor Antagonists Phase 4,Phase 2
26 Anticoagulants Phase 4,Phase 3,Phase 2,Not Applicable
27 Adrenergic Agents Phase 4,Phase 3,Phase 1,Not Applicable
28 Adrenergic Agonists Phase 4,Phase 3,Phase 1,Not Applicable
29 Adrenergic beta-2 Receptor Agonists Phase 4
30 Adrenergic beta-Agonists Phase 4
31 Albuterol Phase 4
32 Anti-Asthmatic Agents Phase 4
33 Autonomic Agents Phase 4
34 Bronchodilator Agents Phase 4
35 Respiratory System Agents Phase 4
36 Tocolytic Agents Phase 4
37 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1,Not Applicable
38 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Not Applicable
39 Anesthetics Phase 4,Phase 2,Not Applicable
40 Anesthetics, Dissociative Phase 4,Phase 2
41 Anesthetics, General Phase 4,Phase 2,Not Applicable
42 Anesthetics, Intravenous Phase 4,Phase 2,Not Applicable
43 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Excitatory Amino Acid Antagonists Phase 4,Phase 2
45 Excitatory Amino Acids Phase 4,Phase 2
46 Hypnotics and Sedatives Phase 4,Phase 3,Phase 1,Not Applicable
47 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
48 Coagulants Phase 4
49 Anesthetics, Local Phase 4,Not Applicable
50 Carticaine Phase 4

Interventional clinical trials:

(show top 50) (show all 151)
# Name Status NCT ID Phase Drugs
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4 Clopidogrel
2 PC-Trial: Patent Foramen Ovale and Cryptogenic Embolism Unknown status NCT00166257 Phase 4 Medical antitrhombotic treatment
3 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) )
4 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Completed NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
5 Patent Foramen Ovale in Cryptogenic Stroke Study Completed NCT00697151 Phase 4 Warfarin;Aspirin
6 Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO) Recruiting NCT01550588 Phase 4 Standard medical treatment
7 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
8 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Terminated NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
9 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
10 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Unknown status NCT02644330 Phase 2, Phase 3
11 MIST II PFO-Migraine Trial With BioSTAR® Bioabsorbable Septal Repair Implant Unknown status NCT00283738 Phase 2, Phase 3
12 Evaluation of the STARFlex® Septal Closure System in Patients With a Stroke or TIA Due to the Possible Passage of a Clot of Unknown Origin Through a Patent Foramen Ovale (PFO) Unknown status NCT00201461 Phase 2, Phase 3 Best medical therapy
13 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
14 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
15 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
16 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
17 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
18 Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence Completed NCT00562289 Phase 3 aspirin;Antivitamins K or rivaroxaban or dabigatran or apixaban
19 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
20 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
21 ESCAPE Migraine Trial Terminated NCT00267371 Phase 3 Medical management/current medications per standard of care by personal physician.
22 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
23 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
24 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
25 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
26 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
27 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
28 Premium Migraine Trial Completed NCT00355056 Phase 2
29 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
30 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
31 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
32 Evaluation of Myocardial Effects of Bendavia for Reducing Reperfusion Injury in Patients With Acute Coronary Events Completed NCT01572909 Phase 2 Bendavia (MTP-131);Placebo
33 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Recruiting NCT02777359 Phase 2
34 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
35 Catheter Thrombectomy in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
36 PRIMA PFO Migraine Trial Terminated NCT00505570 Phase 2
37 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2 Apixaban;Placebo
38 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
39 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
40 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
41 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
42 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Completed NCT02280824 Phase 1
43 Utilization of Confocal Microscopy During Cardiac Surgery Recruiting NCT03189134 Phase 1 Fluorescite
44 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
45 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
46 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
47 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Unknown status NCT02453451 Not Applicable
48 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Not Applicable Low molecular weight heparin
49 Occluder Size Determination in Transcatheter ASD II Closure Based on 3D TEE Assessment Unknown status NCT02601768
50 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936 Not Applicable

Search NIH Clinical Center for Heart Septal Defect

Cochrane evidence based reviews: heart septal defects

Genetic Tests for Heart Septal Defect

Anatomical Context for Heart Septal Defect

MalaCards organs/tissues related to Heart Septal Defect:

41
Heart, Brain

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

# Title Authors Year
1
Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease. ( 17164490 )
2007
2
[The surgical procedure in an anomalous muscular bundle of the right ventricle combined with an interventricular heart septal defect]. ( 8753953 )
1996

Variations for Heart Septal Defect

Copy number variations for Heart Septal Defect from CNVD:

7 (show all 28)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 161575 22 19405375 20797502 Deletion AIFM3 cardiac septal defect
2 161576 22 19405375 20797502 Deletion CCDC116 cardiac septal defect
3 161577 22 19405375 20797502 Deletion CRKL cardiac septal defect
4 161578 22 19405375 20797502 Deletion FLJ42953 cardiac septal defect
5 161579 22 19405375 20797502 Deletion GGT-2 cardiac septal defect
6 161580 22 19405375 20797502 Deletion HIC2 cardiac septal defect
7 161581 22 19405375 20797502 Deletion LOC150223 cardiac septal defect
8 161582 22 19405375 20797502 Deletion LOC220686 cardiac septal defect
9 161583 22 19405375 20797502 Deletion LOC400891 cardiac septal defect
10 161584 22 19405375 20797502 Deletion LZTR1 cardiac septal defect
11 161585 22 19405375 20797502 Deletion MAPK1 cardiac septal defect
12 161586 22 19405375 20797502 Deletion MGC16703 cardiac septal defect
13 161587 22 19405375 20797502 Deletion P2RXL1 cardiac septal defect
14 161588 22 19405375 20797502 Deletion PIKA4CA cardiac septal defect
15 161589 22 19405375 20797502 Deletion PPIL2 cardiac septal defect
16 161590 22 19405375 20797502 Deletion PPM1F cardiac septal defect
17 161591 22 19405375 20797502 Deletion RBP3.2 cardiac septal defect
18 161592 22 19405375 20797502 Deletion RBP3.3 cardiac septal defect
19 161593 22 19405375 20797502 Deletion SDF2L1 cardiac septal defect
20 161594 22 19405375 20797502 Deletion SERPIND1 cardiac septal defect
21 161595 22 19405375 20797502 Deletion SLC7A4 cardiac septal defect
22 161596 22 19405375 20797502 Deletion SNAP29 cardiac septal defect
23 161597 22 19405375 20797502 Deletion THAP7 cardiac septal defect
24 161598 22 19405375 20797502 Deletion TOP3B cardiac septal defect
25 161599 22 19405375 20797502 Deletion UBE2L3 cardiac septal defect
26 161600 22 19405375 20797502 Deletion YPEL1 cardiac septal defect
27 161601 22 19405375 20797502 Deletion mir-130b cardiac septal defect
28 161602 22 19405375 20797502 Deletion mir-301b cardiac septal defect

Expression for Heart Septal Defect

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

Pathways for Heart Septal Defect

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 GATA4 GATA6 NODAL TBX1
2
Show member pathways
12.24 ACVRL1 GATA4 GATA6 NKX2-5
3
Show member pathways
12.24 BMP10 CFC1 GATA4 MEF2C NKX2-5 TBX5
4
Show member pathways
11.99 GATA4 MEF2C NKX2-5 TBX5
5 11.78 GATA4 MEF2C NKX2-5 NODAL TBX5
6
Show member pathways
11.24 CFC1 GDF1 NODAL
7 11.22 GATA4 MEF2C MESP1 NKX2-5 NODAL TBX20
8 10.89 BMP10 GATA4 GATA6 MEF2C NKX2-5 TBX1
9 10.8 BMP10 GATA4 MEF2C NKX2-5
10 10.57 MEF2C NKX2-5
11 10.18 GATA4 NKX2-5

GO Terms for Heart Septal Defect

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

(show top 50) (show all 75)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.99 ACVRL1 GATA4 GATA6 NODAL
2 negative regulation of cell migration GO:0030336 9.95 ACVRL1 BMP10 CITED2 TBX5
3 cell development GO:0048468 9.93 BMP10 GATA4 GATA6 GDF1 NODAL
4 BMP signaling pathway GO:0030509 9.93 ACVRL1 BMP10 CFC1 GDF1 NKX2-5 NODAL
5 male gonad development GO:0008584 9.92 CITED2 GATA4 GATA6
6 anterior/posterior pattern specification GO:0009952 9.92 CFC1 NODAL TBX1
7 outflow tract morphogenesis GO:0003151 9.92 CITED2 MEF2C NKX2-5 TBX1 TBX20
8 lung development GO:0030324 9.91 NODAL TBX5 ZFPM2
9 determination of left/right symmetry GO:0007368 9.91 CFC1 CITED2 NODAL TBX1
10 cell fate commitment GO:0045165 9.91 GATA4 GATA6 MEF2C NODAL
11 liver development GO:0001889 9.9 CITED2 GATA6 NODAL
12 blood vessel development GO:0001568 9.9 CFC1 CITED2 MEF2C TBX1
13 vasculogenesis GO:0001570 9.88 CITED2 NKX2-5 ZFPM2
14 SMAD protein signal transduction GO:0060395 9.88 BMP10 GDF1 NODAL
15 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.88 ACVRL1 BMP10 GDF1 NODAL
16 regulation of MAPK cascade GO:0043408 9.87 BMP10 GDF1 NODAL
17 heart morphogenesis GO:0003007 9.87 MESP1 NKX2-5 TBX1
18 digestive tract development GO:0048565 9.86 GATA4 GATA6 NKX2-6
19 gastrulation GO:0007369 9.85 CFC1 MESP1 NODAL
20 ventricular septum morphogenesis GO:0060412 9.85 CITED2 NKX2-5 ZFPM2
21 positive regulation of BMP signaling pathway GO:0030513 9.85 ACVRL1 GATA4 GATA6
22 embryonic heart tube development GO:0035050 9.85 NKX2-5 NKX2-6 NODAL TBX20
23 outflow tract septum morphogenesis GO:0003148 9.83 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
24 ventricular septum development GO:0003281 9.82 CITED2 GATA4 TBX5
25 anatomical structure formation involved in morphogenesis GO:0048646 9.81 GATA4 GATA6 NODAL
26 cardiac muscle tissue development GO:0048738 9.8 GATA6 NKX2-5 ZFPM2
27 atrial septum morphogenesis GO:0060413 9.8 GATA4 NKX2-5 TBX20 TBX5
28 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 BMP10 GATA6 MEF2C TBX20 TBX5 ZFPM2
29 pharyngeal system development GO:0060037 9.79 NKX2-5 NKX2-6 TBX1
30 endocardial cushion development GO:0003197 9.78 CITED2 CRELD1 GATA4 TBX5
31 ventricular cardiac muscle cell development GO:0055015 9.77 BMP10 NKX2-5 NKX2-6
32 negative regulation of endothelial cell migration GO:0010596 9.75 ACVRL1 BMP10
33 regulation of cardiac muscle contraction GO:0055117 9.75 BMP10 NKX2-5
34 negative regulation of cardiac muscle cell proliferation GO:0060044 9.75 CITED2 TBX5
35 cardiac muscle tissue morphogenesis GO:0055008 9.74 NKX2-5 TBX20
36 endocardial cushion morphogenesis GO:0003203 9.74 ACVRL1 TBX20
37 activin receptor signaling pathway GO:0032924 9.74 ACVRL1 BMP10
38 trophectodermal cell differentiation GO:0001829 9.74 CITED2 NODAL
39 heart trabecula formation GO:0060347 9.74 BMP10 NKX2-5
40 adult heart development GO:0007512 9.74 BMP10 NKX2-5
41 smooth muscle cell differentiation GO:0051145 9.73 GATA6 MEF2C
42 cardiac muscle cell proliferation GO:0060038 9.73 BMP10 NKX2-5
43 cardiac muscle hypertrophy in response to stress GO:0014898 9.73 GATA6 MEF2C
44 cardiac septum development GO:0003279 9.73 CRELD1 TBX20
45 cardiac right ventricle morphogenesis GO:0003215 9.73 GATA4 TBX20
46 cardiac ventricle formation GO:0003211 9.73 MEF2C MESP1 NKX2-5
47 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX5
48 positive regulation of transcription, DNA-templated GO:0045893 9.73 ACVRL1 BMP10 CITED2 GATA4 GATA6 MEF2C
49 positive regulation of cell-cell adhesion GO:0022409 9.72 CITED2 NODAL
50 embryonic viscerocranium morphogenesis GO:0048703 9.72 MEF2C TBX1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.91 CITED2 GATA4 GATA6 MEF2C NKX2-5
2 sequence-specific DNA binding GO:0043565 9.91 GATA4 GATA6 MEF2C NKX2-5 NKX2-6 TBX1
3 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.85 MEF2C MESP1 NKX2-5 TBX20
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.84 GATA4 GATA6 MEF2C TBX20
5 transcription regulatory region DNA binding GO:0044212 9.8 GATA4 GATA6 MEF2C MESP1 NKX2-5
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 GATA6 MEF2C MESP1 NKX2-5 TBX20 TBX5
7 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 9.78 GATA4 GATA6 NKX2-5 TBX5
8 transcription factor binding GO:0008134 9.73 GATA4 GATA6 MEF2C NKX2-5 TBX5 ZFPM2
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.7 GATA6 MEF2C NKX2-5
10 RNA polymerase II activating transcription factor binding GO:0001102 9.67 CITED2 MEF2C TBX20
11 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.65 GATA4 GATA6 MEF2C MESP1 NKX2-5 NKX2-6
12 transforming growth factor beta receptor binding GO:0005160 9.63 BMP10 GDF1 NODAL
13 RNA polymerase II transcription factor binding GO:0001085 9.46 GATA4 GATA6 TBX20 ZFPM2
14 DNA binding transcription factor activity GO:0003700 9.32 CITED2 GATA4 GATA6 MEF2C MESP1 NKX2-5
15 DNA binding GO:0003677 10.13 GATA4 GATA6 MEF2C MESP1 NKX2-5 NKX2-6

Sources for Heart Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....