MCID: HRT011
MIFTS: 48

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
SNOMED-CT 68 59494005 8352002
UMLS 73 C0018816

Summaries for Heart Septal Defect

MalaCards based summary : Heart Septal Defect, also known as heart septal defects, is related to patent foramen ovale and atrial heart 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 DREAM Repression and Dynorphin Expression. The drugs Ticlopidine and Aspirin 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)

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 478)
# Related Disease Score Top Affiliating Genes
1 patent foramen ovale 33.0 CITED2 CLNK GATA4 GATA6 NKX2-5 NKX2-6
2 atrial heart septal defect 32.8 ACVRL1 CFC1 CLNK CRELD1 GATA4 GATA6
3 partial atrioventricular canal 32.7 CRELD1 GATA4 GATA6
4 eisenmenger syndrome 32.6 CITED2 GATA4 NKX2-5
5 holt-oram syndrome 32.4 NKX2-5 TBX1 TBX5
6 tricuspid atresia 32.3 CRELD1 GDF1 MESP1 NKX2-6 ZFPM2
7 ventricular septal defect 32.3 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
8 tetralogy of fallot 32.2 CITED2 CRELD1 GATA4 GATA6 GDF1 NKX2-5
9 right atrial isomerism 31.8 BMP10 GDF1
10 conotruncal heart malformations 31.7 GATA6 GDF1 NKX2-5 NKX2-6 TBX1 ZFPM2
11 double outlet right ventricle 31.4 CFC1 CRELD1 GATA4 GATA6 GDF1 MEF2C
12 transposition of the great arteries 31.4 GDF1 NKX2-5
13 atrioventricular septal defect 31.2 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
14 pulmonary valve stenosis 30.8 CRELD1 GATA4 NKX2-6
15 patent ductus arteriosus 1 30.8 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
16 atrioventricular block 30.8 GATA4 NKX2-5 TBX5
17 complete atrioventricular canal-tetralogy of fallot syndrome 30.6 CRELD1 GATA4
18 complete atrioventricular canal-left heart obstruction syndrome 30.6 CRELD1 GATA4
19 hypoplastic left heart syndrome 30.5 NKX2-5 NKX2-6 TBX20
20 aortic valve disease 1 30.5 CRELD1 NKX2-5 NKX2-6 TBX20
21 complete atrioventricular canal-ventricle hypoplasia syndrome 30.4 CRELD1 GATA4 GATA6
22 dextrocardia with situs inversus 30.3 CITED2 NODAL
23 ebstein anomaly 30.3 GATA4 GDF1 NKX2-5 NKX2-6
24 total anomalous pulmonary venous return 1 30.3 CRELD1 GDF1 NKX2-6
25 discrete subaortic stenosis 30.2 CRELD1 NODAL
26 pulmonary subvalvular stenosis 29.8 CRELD1 NODAL
27 visceral heterotaxy 29.8 CFC1 CRELD1 GDF1 NKX2-6 NODAL
28 heart disease 28.7 CFC1 CITED2 CRELD1 GATA4 GATA6 GDF1
29 atrial septal defect 7 with or without atrioventricular conduction defects 12.6
30 pulmonary atresia with ventricular septal defect 12.5
31 atrioventricular septal defect 4 12.5
32 atrioventricular septal defect 5 12.5
33 atrioventricular septal defect 2 12.5
34 ventricular septal defect 1 12.5
35 ventricular septal defect 2 12.5
36 ventricular septal defect 3 12.5
37 lymphedema, cardiac septal defects, and characteristic facies 12.4
38 atrial heart septal defect 7 12.4
39 atrial septal defect sinus venosus 12.4
40 atrioventricular septal defect 3 12.4
41 hydrops fetalis, nonimmune, and/or atrial septal defect 12.4
42 atrial septal defect coronary sinus 12.4
43 cardiac septal defects with coarctation of the aorta 12.3
44 atrial septal defect ostium primum 12.3
45 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 12.1
46 brachydactyly, type e, with atrial septal defect, type ii 12.1
47 pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities 12.1
48 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.1
49 atrioventricular septal defect with blepharophimosis and anal and radial defects 12.1
50 brachydactyly, intraventricular septal defect, and deafness 12.1

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



Diseases related to Heart Septal Defect

Symptoms & Phenotypes for Heart Septal Defect

GenomeRNAi Phenotypes related to Heart 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 Heart Septal Defect:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 ACVRL1 BMP10 CITED2 CRELD1 GATA4 GATA6
2 cellular MP:0005384 10.38 BMP10 CA5B CRELD1 GATA4 GATA6 GDF1
3 embryo MP:0005380 10.37 ACVRL1 BMP10 CITED2 CRELD1 GATA4 GATA6
4 growth/size/body region MP:0005378 10.35 ACVRL1 BMP10 CA5B CITED2 GATA4 GATA6
5 mortality/aging MP:0010768 10.3 ACVRL1 BMP10 CA5B CITED2 CRELD1 GATA4
6 homeostasis/metabolism MP:0005376 10.28 ACVRL1 BMP10 CA5B CITED2 GATA4 GATA6
7 hematopoietic system MP:0005397 10.23 ACVRL1 BMP10 CITED2 CLNK GATA4 GATA6
8 craniofacial MP:0005382 10.18 ACVRL1 CITED2 CRELD1 GDF1 MEF2C MESP1
9 muscle MP:0005369 10.1 ACVRL1 BMP10 GATA4 GATA6 MEF2C MESP1
10 digestive/alimentary MP:0005381 10.05 ACVRL1 CITED2 GATA4 GDF1 NKX2-5 NODAL
11 normal MP:0002873 10.03 ACVRL1 BMP10 CITED2 GATA4 GATA6 GDF1
12 nervous system MP:0003631 9.96 ACVRL1 CITED2 CRELD1 GATA4 GDF1 MEF2C
13 limbs/digits/tail MP:0005371 9.95 BMP10 CITED2 GATA4 GATA6 MEF2C TBX1
14 respiratory system MP:0005388 9.73 ACVRL1 CITED2 GATA4 GATA6 GDF1 MEF2C
15 skeleton MP:0005390 9.23 CITED2 GATA4 GDF1 MEF2C MESP1 NODAL

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 139)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ticlopidine Approved Phase 4 55142-85-3 5472
2
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 50-78-2 2244
3
Clopidogrel Approved Phase 4,Phase 3,Phase 2,Not Applicable 113665-84-2, 120202-66-6 60606
4
Warfarin Approved Phase 4,Phase 2,Phase 3,Not Applicable 81-81-2 6691 54678486
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
7
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 113775-47-6 68602 5311068
8
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
9
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
10
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
11
Racepinephrine Approved Phase 4 329-65-7 838
12 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Cytochrome P-450 CYP2C19 Inhibitors Phase 4
17 Purinergic P2Y Receptor Antagonists Phase 4,Phase 2
18 Purinergic P2 Receptor Antagonists Phase 4,Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 4
20 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
21 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2,Not Applicable
23 Fibrinolytic Agents Phase 4,Phase 3,Phase 2,Not Applicable
24 Antipyretics Phase 4,Phase 2,Phase 3,Not Applicable
25 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
26 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable
27 Anticoagulants Phase 4,Phase 3,Phase 2,Not Applicable
28 Anti-Asthmatic Agents Phase 4
29 Adrenergic beta-Agonists Phase 4
30 Adrenergic Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Respiratory System Agents Phase 4
32 Adrenergic Agonists Phase 4,Phase 3,Phase 2,Phase 1
33 Adrenergic beta-2 Receptor Agonists Phase 4
34 Bronchodilator Agents Phase 4
35 Tocolytic Agents Phase 4
36 Autonomic Agents Phase 4
37 Albuterol Phase 4
38 Anesthetics Phase 4,Phase 2,Not Applicable
39 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 2,Phase 1
40 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2,Phase 1
42 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1
43 Excitatory Amino Acid Antagonists Phase 4,Phase 2
44 Excitatory Amino Acids Phase 4,Phase 2
45 Anesthetics, Intravenous Phase 4,Phase 2,Not Applicable
46 Anesthetics, General Phase 4,Phase 2,Not Applicable
47 Anesthetics, Dissociative Phase 4,Phase 2
48 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
49 Coagulants Phase 4
50 Epinephryl borate Phase 4

Interventional clinical trials:

(show top 50) (show all 155)
# 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 ESCAPE Migraine Trial Terminated NCT00267371 Phase 3 Medical management/current medications per standard of care by personal physician.
21 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
22 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3 Enalapril
23 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
24 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
25 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2 saline;ketamine
26 Measures to Lower the Stress Response in Pediatric Cardiac Surgery Completed NCT00848393 Phase 2 Fentanyl (High Dose);Fentanyl (Low Dose);Fentanyl (Low Dose) + Dexmedetomidine
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 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
31 Evaluation of Myocardial Effects of Bendavia for Reducing Reperfusion Injury in Patients With Acute Coronary Events Completed NCT01572909 Phase 2 Bendavia (MTP-131);Placebo
32 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Recruiting NCT02777359 Phase 2
33 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Recruiting NCT03079401 Phase 1, Phase 2
34 Catheter Thrombectomy in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
35 PRIMA PFO Migraine Trial Terminated NCT00505570 Phase 2
36 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2 Apixaban;Placebo
37 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
38 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
39 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Completed NCT01915277 Phase 1 Dexmedetomidine
40 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Completed NCT02280824 Phase 1
41 Utilization of Confocal Microscopy During Cardiac Surgery Recruiting NCT03189134 Phase 1 Fluorescite
42 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
43 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Active, not recruiting NCT01825369 Phase 1 IV L-carnitine
44 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
45 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
46 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Unknown status NCT02453451 Not Applicable
47 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Not Applicable Low molecular weight heparin
48 International Registry for ASD Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Unknown status NCT02766569
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, Lung, Testes, Brain, Bone, Eye, T Cells

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

# Title Authors Year
1
Parental cigarette smoking and the risk of congenital heart septal defects. ( 21252599 )
2010
2
Congenital cataract and heart septal defects: are contiguous or reciprocally influenced genes involved? ( 19489951 )
2009
3
Pulmonary arterial hypertension in adults born with a heart septal defect: the Euro Heart Survey on adult congenital heart disease. ( 17164490 )
2007
4
[The surgical procedure in an anomalous muscular bundle of the right ventricle combined with an interventricular heart septal defect]. ( 8753953 )
1996
5
Electrocardiogram of the month (heart block and heart septal defects). ( 6590063 )
1984

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 12)
# 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
11.96 GATA4 MEF2C NKX2-5 TBX5
5 11.78 GATA4 MEF2C NKX2-5 NODAL TBX5
6 11.31 GATA4 GATA6 MEF2C
7
Show member pathways
11.24 CFC1 GDF1 NODAL
8 11.22 GATA4 MEF2C MESP1 NKX2-5 NODAL TBX20
9 10.89 BMP10 GATA4 GATA6 MEF2C NKX2-5 TBX1
10 10.8 BMP10 GATA4 MEF2C NKX2-5
11 10.57 MEF2C NKX2-5
12 10.21 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 9.98 ACVRL1 GATA4 GATA6 NODAL
2 negative regulation of cell migration GO:0030336 9.97 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 outflow tract morphogenesis GO:0003151 9.92 CITED2 MEF2C NKX2-5 TBX1 TBX20
6 anterior/posterior pattern specification GO:0009952 9.91 CFC1 NODAL TBX1
7 male gonad development GO:0008584 9.91 CITED2 GATA4 GATA6
8 lung development GO:0030324 9.9 NODAL TBX5 ZFPM2
9 determination of left/right symmetry GO:0007368 9.9 CFC1 CITED2 NODAL TBX1
10 liver development GO:0001889 9.89 CITED2 GATA6 NODAL
11 pattern specification process GO:0007389 9.88 ACVRL1 TBX1 TBX5
12 regulation of MAPK cascade GO:0043408 9.87 BMP10 GDF1 NODAL
13 vasculogenesis GO:0001570 9.87 CITED2 NKX2-5 ZFPM2
14 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.87 ACVRL1 BMP10 GDF1 NODAL
15 SMAD protein signal transduction GO:0060395 9.86 BMP10 GDF1 NODAL
16 blood vessel development GO:0001568 9.86 CITED2 MEF2C TBX1
17 heart morphogenesis GO:0003007 9.86 MESP1 NKX2-5 TBX1
18 ventricular septum morphogenesis GO:0060412 9.85 CITED2 NKX2-5 ZFPM2
19 embryonic heart tube development GO:0035050 9.85 NKX2-5 NKX2-6 NODAL TBX20
20 positive regulation of cardiac muscle cell proliferation GO:0060045 9.85 BMP10 GATA6 MEF2C TBX20 TBX5 ZFPM2
21 gastrulation GO:0007369 9.84 CFC1 MESP1 NODAL
22 outflow tract septum morphogenesis GO:0003148 9.83 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
23 positive regulation of BMP signaling pathway GO:0030513 9.82 ACVRL1 GATA4 GATA6
24 ventricular septum development GO:0003281 9.81 CITED2 GATA4 TBX5
25 atrial septum morphogenesis GO:0060413 9.81 GATA4 NKX2-5 TBX20 TBX5
26 anatomical structure formation involved in morphogenesis GO:0048646 9.8 GATA4 GATA6 NODAL
27 endocardial cushion development GO:0003197 9.8 CITED2 CRELD1 GATA4 TBX5
28 cardiac muscle tissue development GO:0048738 9.79 GATA6 NKX2-5 ZFPM2
29 pharyngeal system development GO:0060037 9.78 NKX2-5 NKX2-6 TBX1
30 tissue development GO:0009888 9.75 GATA4 GATA6
31 negative regulation of cardiac muscle cell proliferation GO:0060044 9.75 CITED2 TBX5
32 negative regulation of endothelial cell migration GO:0010596 9.75 ACVRL1 BMP10
33 aortic valve morphogenesis GO:0003180 9.75 GATA4 TBX20
34 ventricular cardiac muscle cell development GO:0055015 9.75 BMP10 NKX2-5 NKX2-6
35 regulation of cardiac muscle contraction GO:0055117 9.74 BMP10 NKX2-5
36 cardiac muscle tissue morphogenesis GO:0055008 9.74 NKX2-5 TBX20
37 activin receptor signaling pathway GO:0032924 9.74 ACVRL1 BMP10
38 endocardial cushion morphogenesis GO:0003203 9.74 ACVRL1 TBX20
39 adult heart development GO:0007512 9.74 BMP10 NKX2-5
40 cardiac muscle hypertrophy in response to stress GO:0014898 9.73 GATA6 MEF2C
41 heart trabecula formation GO:0060347 9.73 BMP10 NKX2-5
42 trophectodermal cell differentiation GO:0001829 9.73 CITED2 NODAL
43 cardiac muscle cell proliferation GO:0060038 9.73 BMP10 NKX2-5
44 cardiac right ventricle morphogenesis GO:0003215 9.73 GATA4 TBX20
45 cardiac ventricle formation GO:0003211 9.73 MEF2C MESP1 NKX2-5
46 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX5
47 positive regulation of transcription, DNA-templated GO:0045893 9.73 ACVRL1 BMP10 CITED2 GATA4 GATA6 MEF2C
48 cardiac septum development GO:0003279 9.72 CRELD1 TBX20
49 smooth muscle cell differentiation GO:0051145 9.72 GATA6 MEF2C
50 positive regulation of cell-cell adhesion GO:0022409 9.72 CITED2 NODAL

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.87 GATA4 GATA6 MEF2C NKX2-5 NKX2-6 TBX1
2 transcription factor binding GO:0008134 9.85 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.85 GATA4 GATA6 MEF2C MESP1 NKX2-5 NKX2-6
4 transcription coactivator activity GO:0003713 9.84 CITED2 GATA4 TBX20 ZFPM2
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.83 GATA4 MEF2C NKX2-6 TBX20
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 GATA4 NKX2-5 NKX2-6 TBX5
7 transcription regulatory region DNA binding GO:0044212 9.77 GATA4 GATA6 MEF2C MESP1 NKX2-5
8 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX20
9 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.69 GATA6 MEF2C NKX2-5
10 RNA polymerase II transcription factor binding GO:0001085 9.65 GATA4 TBX20 ZFPM2
11 transforming growth factor beta receptor binding GO:0005160 9.61 BMP10 GDF1 NODAL
12 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.5 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX20
13 DNA-binding transcription factor activity GO:0003700 9.32 CITED2 GATA4 GATA6 MEF2C MESP1 NKX2-5
14 DNA binding GO:0003677 10.1 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
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