Atrial Heart Septal Defect

Categories: Cardiovascular diseases

Aliases & Classifications for Atrial Heart Septal Defect

MalaCards integrated aliases for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 14
Atrial Septal Defect 12 72 36 28
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 41
Interatrial Septal Defect 12
Auricular Septal Defect 12
Atrial Septal Defects 51
Atrioseptal Defect 12


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Disease Ontology 12 DOID:1882
ICD10 32 Q21.1
MeSH 41 D006344
NCIt 46 C84473
KEGG 36 H00546
UMLS 69 C0018817

Summaries for Atrial Heart Septal Defect

Disease Ontology : 12 A heart septal defect located in in the septum that separates the two atria of the heart.

MalaCards based summary : Atrial Heart Septal Defect, also known as atrial septal defect, is related to atrial septal defect 1 and atrioventricular block. An important gene associated with Atrial Heart Septal Defect is ASD1 (Atrial Septal Defect 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include in the septum and heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 72 A heart defect present at birth in which blood can flow through an opening between the top chambers of... more...

Related Diseases for Atrial Heart Septal Defect

Diseases in the Atrial Heart Septal Defect family:

Atrial Heart Septal Defect 7

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

(show all 40)
# Related Disease Score Top Affiliating Genes
1 atrial septal defect 1 33.4 ASD1 TBX5
2 atrioventricular block 30.1 GATA4 NKX2-5 TBX5
3 patent ductus arteriosus 1 29.2 CRELD1 GDF1 NKX2-6 TLL1
4 dilated cardiomyopathy 28.9 ACTC1 GATA4 MYH6 NKX2-5 TBX20 TBX5
5 patent foramen ovale 26.7 ACTC1 CLNK ECI1 F2 GATA4 MYH6
6 atrial heart septal defect 7 12.4
7 atrial septal defect 2 11.9
8 atrial septal defect 4 11.9
9 atrial septal defect 3 11.9
10 atrial septal defect 5 11.8
11 atrial septal defect 6 11.8
12 atrial septal defect 8 11.8
13 atrial septal defect 9 11.8
14 complete atrioventricular canal-tetralogy of fallot syndrome 10.4 CRELD1 GATA4
15 complete atrioventricular canal-left heart obstruction syndrome 10.4 CRELD1 GATA4
16 partial atrioventricular canal 10.4 CRELD1 GATA4
17 complete atrioventricular canal-ventricle hypoplasia syndrome 10.4 CRELD1 GATA4
18 holt-oram syndrome 10.2 MYH6 NKX2-5 TBX5
19 total anomalous pulmonary venous return 1 10.2 CRELD1 NKX2-6
20 dextro-looped transposition of the great arteries 10.1 GDF1 NKX2-6
21 familial atrial fibrillation 10.1 GATA4 NKX2-5 NKX2-6
22 pulmonary valve stenosis 10.1 CRELD1 GATA4 NKX2-6 TBX5
23 lutembacher's syndrome 10.0
24 pulmonary valve disease 10.0 CRELD1 GATA4 NKX2-6 TBX5
25 mitral valve stenosis 10.0 ACVRL1 CRELD1
26 anemia, congenital dyserythropoietic, type iii 10.0
27 congenital dyserythropoietic anemia 10.0
28 tricuspid atresia 9.9 CRELD1 GDF1 NKX2-5 NKX2-6
29 pulmonic stenosis 9.9
30 tricuspid valve insufficiency 9.8 ACVRL1 CRELD1
31 ventricular septal defect 9.8 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
32 ebstein anomaly 9.8 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
33 transposition of the great arteries 9.8 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
34 cardiac tamponade 9.6 ACVRL1 F2
35 tricuspid valve disease 9.6 ACVRL1 CRELD1 GDF1 NKX2-5 NKX2-6
36 atrioventricular septal defect 9.6 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
37 tetralogy of fallot 9.6 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX5
38 conotruncal heart malformations 9.5 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 TBX20
39 heart septal defect 8.5 ACVRL1 CLNK CRELD1 ECI1 GATA4 GDF1
40 heart disease 8.2 ACTC1 CRELD1 F2 GATA4 GDF1 MYH6

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

Diseases related to Atrial Heart Septal Defect

Symptoms & Phenotypes for Atrial Heart Septal Defect

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

43 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ACTC1 FOXC1 ACVRL1 GATA4 CRELD1 F2
2 homeostasis/metabolism MP:0005376 10.15 F2 ACTC1 FOXC1 ACVRL1 GATA4 ECI1
3 growth/size/body region MP:0005378 10.14 F2 ACTC1 FOXC1 ACVRL1 GATA4 NKX2-6
4 embryo MP:0005380 10.13 F2 GDF1 FOXC1 ACVRL1 GATA4 CRELD1
5 mortality/aging MP:0010768 10.07 F2 GDF1 ACTC1 FOXC1 ACVRL1 GATA4
6 digestive/alimentary MP:0005381 10 F2 FOXC1 ACVRL1 GATA4 GDF1 NKX2-5
7 craniofacial MP:0005382 9.95 FOXC1 ACVRL1 CRELD1 GDF1 NKX2-5 TLL1
8 muscle MP:0005369 9.81 ACTC1 FOXC1 ACVRL1 GATA4 TBX20 MYH6
9 liver/biliary system MP:0005370 9.8 FOXC1 ACVRL1 GATA4 GDF1 MYH6 TLL1
10 normal MP:0002873 9.7 F2 GDF1 ACTC1 FOXC1 ACVRL1 GATA4
11 respiratory system MP:0005388 9.23 F2 GDF1 FOXC1 ACVRL1 GATA4 NKX2-6

Drugs & Therapeutics for Atrial Heart Septal Defect

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
Ticlopidine Approved Phase 4 55142-85-3 5472
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7 Racepinephrine Approved Phase 4 329-65-7
8 Analgesics Phase 4,Phase 3
9 Analgesics, Non-Narcotic Phase 4,Phase 3
10 Anti-Inflammatory Agents Phase 4
11 Anti-Inflammatory Agents, Non-Steroidal Phase 4
12 Antipyretics Phase 4
13 Antirheumatic Agents Phase 4
14 Cyclooxygenase Inhibitors Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Fibrinolytic Agents Phase 4,Not Applicable
17 Neurotransmitter Agents Phase 4,Phase 3
18 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
19 Platelet Aggregation Inhibitors Phase 4
20 Purinergic P2 Receptor Antagonists Phase 4
21 Purinergic P2Y Receptor Antagonists Phase 4
22 Central Nervous System Depressants Phase 4,Phase 3,Not Applicable
23 Anesthetics Phase 4,Not Applicable
24 Anesthetics, Local Phase 4,Not Applicable
25 Carticaine Phase 4
26 Epinephryl borate Phase 4
27 Pharmaceutical Solutions Phase 4
Dexmedetomidine Approved, Vet_approved Phase 3 76631-46-4, 113775-47-6 5311068 56032 68602
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
30 Adrenergic Agents Phase 3
31 Adrenergic Agonists Phase 3
32 Adrenergic alpha-2 Receptor Agonists Phase 3
33 Adrenergic alpha-Agonists Phase 3
34 Hypnotics and Sedatives Phase 3
35 Antihypertensive Agents Phase 3
36 Endothelin Receptor Antagonists Phase 3
Dalteparin Approved Not Applicable 9005-49-6
Heparin Approved, Investigational Not Applicable 9005-49-6 46507594 772
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
Citric Acid Approved, Nutraceutical, Vet_approved 77-92-9 311
41 tannic acid Approved, Nutraceutical Not Applicable
Substance P Investigational 33507-63-0 44359816
43 Anticoagulants Not Applicable
44 calcium heparin Not Applicable
45 Calcium, Dietary Not Applicable
46 Heparin, Low-Molecular-Weight Not Applicable
47 Phosphodiesterase 5 Inhibitors
48 Phosphodiesterase Inhibitors
49 Sildenafil Citrate 171599-83-0
50 Vasodilator Agents

Interventional clinical trials:

(show top 50) (show all 51)

# 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 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
3 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
4 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
5 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
6 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
7 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
8 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
9 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
10 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
11 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
12 Utilization of Confocal Microscopy During Cardiac Surgery Not yet recruiting NCT03189134 Phase 1 Fluorescite
13 Percutaneous Closure of Atrial Septal Defects in Children: Integration of 3D Echocardiography and Fluoroscopy Imaging. Unknown status NCT02529111 Not Applicable
14 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Not Applicable Low molecular weight heparin
15 Occluder Size Determination in Transcatheter ASD II Closure Based on 3D TEE Assessment Unknown status NCT02601768
16 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936 Not Applicable
17 Hyperion™ International Registry Trial Unknown status NCT02220270
18 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
19 Magnetic Resonance Imaging of Atrial Septal Defects Completed NCT00498446
20 Safety and Effectiveness Study of the Solysafe Septal Occluder in Patients With Atrial Septum Defect and Patent Foramen Ovale Completed NCT00207376 Not Applicable
21 Safety and Effectiveness Study of the Solysafe Septal Occluder Completed NCT00353509 Not Applicable
22 Fluid Balance During Closure of Atrial Septal Defect Completed NCT01757743
23 Long-term Safety Study of the GORE® HELEX® Septal Occluder Completed NCT00581308 Not Applicable
24 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
25 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
26 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
27 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
28 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
29 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
30 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120 Not Applicable
31 Pivotal Study of a Percutaneous Mitral Valve Repair System Completed NCT00209274 Not Applicable
32 Magnet Resonance Imaging to Evaluate of Dynamic T2 Preparation Puls by Patients With Shunt or Chronic Obstructive Pulmonary Disease Completed NCT02449083
33 Safety and Efficacy Study of Transcatheter Closure of Ostium Secundum ASDs Recruiting NCT02985684 Not Applicable
34 The Effect of the Hole in the Cardiac Septum Developed by the MitraClip Procedure on the Blood Flow Mechanics Recruiting NCT02453451 Not Applicable
35 Efficacy of Three Dimensional Transesophageal Echocardiography for Percutaneous Device Closure in Atrial Septal Defect Recruiting NCT02097758 Not Applicable
36 A Prospective Investigation of Pleth Variability Index (PVI) as a Dynamic Parameter of Fluid Responsiveness in Children Recruiting NCT02276599
37 MitraClip® and Hemodynamic Effects of Relevant Iatrogenic Atrial Septum Defect Closure Recruiting NCT03024268 Not Applicable
38 The Effect on EPCs by Successful Cardiac Occlusion Device Implantation Recruiting NCT02957201 Not Applicable
39 Lifetech CeraFlex™ Post-Market Surveillance Study Recruiting NCT02621528 Not Applicable
40 Cardiac Murmurs in Children: Predictive Value of Cardiac Markers Recruiting NCT02746029
41 Evaluate Safety and Effectiveness of XenoSure Biological Patch in the Application of Cardiac Repair Recruiting NCT03176225 Not Applicable
42 FIH Study With CBSO Active, not recruiting NCT01960491 Not Applicable
43 Safety and Efficacy of the GORE® Septal Occluder to Treat Ostium Secundum Atrial Septal Defects Active, not recruiting NCT01711983 Not Applicable
44 Real World Expanded Multicenter Study of the MitraClip® System (REALISM) Active, not recruiting NCT01931956 Not Applicable
45 AVJ-514 Japan Trial Active, not recruiting NCT02520310 Not Applicable
46 International Registry for ASD Closure by Using the Occlutech®Flex II Device in More Than 2000 Patients Enrolling by invitation NCT02766569
47 Stitch Closure of PFO and Septal Repair Enrolling by invitation NCT03373929 Not Applicable
48 Non-Invasive Shunt Quantification in Interatrial Communication Not yet recruiting NCT03437148 Not Applicable
49 ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance Study Terminated NCT02353351
50 Nickel Allergy With Septal Closure Devices Terminated NCT01068366

Search NIH Clinical Center for Atrial Heart Septal Defect

Cochrane evidence based reviews: heart septal defects, atrial

Genetic Tests for Atrial Heart Septal Defect

Genetic tests related to Atrial Heart Septal Defect:

# Genetic test Affiliating Genes
1 Atrial Septal Defect 28

Anatomical Context for Atrial Heart Septal Defect

The Foundational Model of Anatomy Ontology organs/tissues related to Atrial Heart Septal Defect:

In The Septum

MalaCards organs/tissues related to Atrial Heart Septal Defect:


Publications for Atrial Heart Septal Defect

Articles related to Atrial Heart Septal Defect:

(show top 50) (show all 342)
# Title Authors Year
Echocardiographic assessment of left to right shunts: atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent arterial duct. ( 29432197 )
Intracardiac echocardiography for percutaneous patent foramen ovale and atrial septal defect occlusion. ( 29374291 )
Think beyond right bundle branch block in atrial septal defect. ( 28994692 )
Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III. ( 28937047 )
Imaging Assessment of the Interatrial Septum for Transcatheter Atrial Septal Defect and Patent Foramen Ovale Closure. ( 28886842 )
Waldmann's Disease (Primary Intestinal Lymphangiectasia) with Atrial Septal Defect. ( 28571224 )
Isolated sternal cleft in a patient with atrial septal defect: A rare sole association. ( 28492212 )
Prevalence and spectrum of NKX2.5 mutations in patients with congenital atrial septal defect and atrioventricular block. ( 28259982 )
Cor triatriatum dexter associated with atrial septal defect: Management in a complex clinical case. ( 29178296 )
Atrial septal defect morphology and stenting in hypoplastic left heart syndrome after hybrid palliation. ( 28889828 )
Persistent left superior vena cava in atrial septal defect sinus venosus type: diagnosis with saline contrast echocardiography-a case series. ( 28469854 )
Secundum atrial septal defect with Eisenmenger syndrome: A scarcely reported disease in Nigeria. ( 29269987 )
Acute Unilateral Renal Infarction in the Setting of an Inherited Thrombophilia and Atrial Septal Defect. ( 28928995 )
Long-Term Risk of Atrial Fibrillation and Stroke in Patients With Atrial Septal Defect Diagnosed in Childhood. ( 27939228 )
Recent development of transcatheter closure of atrial septal defect and patent foramen ovale with occluders. ( 28024095 )
Right-side pulmonary agenesis with atrial septal defect in adult. ( 27081489 )
Association of Duodenal Atresia, Malrotation, and Atrial Septal Defect in a Down-Syndrome Patient. ( 27170921 )
The Aspect of NK2 Transcription Factor Related Locus-5 (NKX2.5) Gene Mutations in Bangladeshi Atrial Septal Defect (ASD) patients and 2D Relationship with their Age. ( 26931254 )
A novel TBX20 lossa89ofa89function mutation contributes to adulta89onset dilated cardiomyopathy or congenital atrial septal defect. ( 27510170 )
Atrial septal defect infective endocarditis: a direct pathway from left atrium to the lung. ( 27165630 )
Congenital pulmonary airway malformation with atrial septal defect and pulmonary hypertension for lobectomy-anesthetic considerations. ( 27052089 )
Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent. ( 26884451 )
Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. ( 26297999 )
Familial Atrial Septal Defect and Sudden Cardiac Death: Identification of a Novel NKX2-5 Mutation and a Review of the Literature. ( 26679770 )
Unsuccessful Redo MitraClip Procedure Leads to Acute Right Ventricular Failure in a Patient With Homozygous Familial Hypercholesterolemia and a Preexisting Atrial Septal Defect. ( 27669032 )
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
Secundum atrial septal defects and methylenetetrahydrofolate reductase C677T polymorphism: A special category of ASDs? ( 27537741 )
Infective Endocarditis After Device Closure of Atrial Septal Defects: Case Report and Review of the Literature. ( 27641431 )
Robotic atrial septal defect closure and tricuspid annuloplasty in a case of situs inversus totalis with dextrocardia. ( 27344445 )
Shunt Lesions Part I: Patent Ductus Arteriosus, Atrial Septal Defect, Ventricular Septal Defect, and Atrioventricular Septal Defect. ( 27490614 )
Case 1/2016 - 56-Year-Old Male with Atrial Septal Defect, Pulmonary Arterial Hypertension, Hospitalized Due to Eisenmenger Syndrome. ( 27027369 )
Percutaneous closure of isolated ostium secundum-type atrial septal defect in a patient with Mayer-Rokitansky-KA1ster-Hauser syndrome. ( 27865679 )
Sinus Venosus Atrial Septal Defect Complicated by Eisenmenger Syndrome and the Role of Vasodilator Therapy. ( 27974976 )
Totally Endoscopic Robotic Correction of Cor Triatriatum Sinister Coexisting With Atrial Septal Defect. ( 27922989 )
A rare case of peripartum cardiomyopathy with atrial septal defect. ( 27728087 )
A novel mutation of GATA4 (K300T) associated with familial atrial septal defect. ( 26376067 )
A Novel Mechanism of Atrioventricular Block Following Transcatheter Closure ofA an Atrial Septal Defect. ( 27639905 )
Displacement of Amplatzer septal occluder in a patient with atrial septal defects and an atrial septal aneurysm. ( 27434107 )
Radiofrequency Catheter Ablation of Orthodromic Atrioventricular Reentrant Tachycardia in a Child with Congenitally Corrected Transposition of the Great Arteries and Atrial Septal Defect. ( 27057934 )
CCN1 mutation is associated with atrial septal defect. ( 25135600 )
Very late cardiac tamponade following successful transcatheter closure of an atrial septal defect with the Amplatzer septal occluder. ( 25720331 )
Preliminary Assessment of Tricuspid Valve Annular Velocity Parameters by Cardiac Magnetic Resonance Imaging in Adults with a Volume-Overloaded Right Ventricle: Comparison of Unrepaired Atrial Septal Defect and Repaired Tetralogy of Fallot. ( 25835201 )
Exercise-induced hypoxia secondary to an atrial septal defect and cor triatriatum dexter. ( 26419403 )
Intra-arterial thrombolysis of central retinal artery occlusion following percutaneous atrial septal defect closure. ( 26153142 )
Atrial fibrillation and stroke in adult patients with atrial septal defect and the long-term effect of closure. ( 25691512 )
Long-term Follow-up of "Simple" Lesions-Atrial Septal Defect, Ventricular Septal Defect, and Coarctation of the Aorta. ( 26365715 )
Supra-cardiac type (1a) total anomalous pulmonary venous return with right to left shunt atrial septal defect diagnosed by 320 slice CT. ( 25841873 )
Extracorporeal membrane oxygenation after liver transplantation in a patient with hepatopulmonary syndrome and an atrial septal defect. ( 25837880 )
Atrial fibrillation and stroke after atrial septal defect closure. Is earlier closure warranted? ( 25711960 )
Letter re Mugnai et al, iatrogenic atrial septal defect after radiofrequency or cryoballoon ablation of atrial fibrillation. ( 26561216 )

Variations for Atrial Heart Septal Defect

Expression for Atrial Heart Septal Defect

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

Pathways for Atrial Heart Septal Defect

GO Terms for Atrial Heart Septal Defect

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

# Name GO ID Score Top Affiliating Genes
1 macromolecular complex GO:0032991 8.62 NKX2-5 TBX5

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.95 ACVRL1 FOXC1 GATA4 NKX2-5 TBX20 TBX5
2 heart development GO:0007507 9.83 FOXC1 NKX2-5 NKX2-6 TBX5
3 heart looping GO:0001947 9.69 GATA4 NKX2-5 TBX20
4 cardiac muscle contraction GO:0060048 9.67 ACTC1 MYH6 NKX2-5
5 BMP signaling pathway GO:0030509 9.67 ACVRL1 GDF1 MYH6 NKX2-5
6 outflow tract septum morphogenesis GO:0003148 9.64 NKX2-5 TBX20
7 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 FOXC1 MYH6
8 pharyngeal system development GO:0060037 9.62 NKX2-5 NKX2-6
9 actin filament-based movement GO:0030048 9.61 ACTC1 MYH6
10 endocardial cushion morphogenesis GO:0003203 9.61 ACVRL1 TBX20
11 heart contraction GO:0060047 9.6 ACTC1 NKX2-5
12 cardiac muscle cell proliferation GO:0060038 9.59 FOXC1 NKX2-5
13 adult heart development GO:0007512 9.58 MYH6 NKX2-5
14 cardiac right ventricle morphogenesis GO:0003215 9.58 GATA4 TBX20
15 cardiac muscle cell differentiation GO:0055007 9.58 GATA4 NKX2-5 TBX5
16 cardiac septum development GO:0003279 9.57 CRELD1 TBX20
17 ventricular cardiac muscle cell development GO:0055015 9.56 NKX2-5 NKX2-6
18 cardiac ventricle morphogenesis GO:0003208 9.55 GATA4 NKX2-5
19 pericardium development GO:0060039 9.54 NKX2-6 TBX5
20 cardiac muscle tissue morphogenesis GO:0055008 9.5 ACTC1 NKX2-5 TBX20
21 atrial cardiac muscle cell development GO:0055014 9.46 NKX2-5 NKX2-6
22 bundle of His development GO:0003166 9.43 NKX2-5 TBX5
23 endocardial cushion development GO:0003197 9.43 CRELD1 GATA4 TBX5
24 positive regulation of cardioblast differentiation GO:0051891 9.33 GATA4 NKX2-5 TBX5
25 embryonic heart tube development GO:0035050 9.26 FOXC1 NKX2-5 NKX2-6 TBX20
26 atrial septum morphogenesis GO:0060413 8.92 GATA4 NKX2-5 TBX20 TBX5
27 multicellular organism development GO:0007275 10.1 F2 NKX2-5 NKX2-6 TBX20 TBX5 TLL1
28 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 ACVRL1 FOXC1 GATA4 NKX2-5 TBX20 TBX5

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.63 FOXC1 GATA4 NKX2-5 NKX2-6 TBX20 TBX5
2 transcription factor binding GO:0008134 9.56 FOXC1 GATA4 NKX2-5 TBX5
3 sequence-specific DNA binding GO:0043565 9.35 FOXC1 GATA4 NKX2-5 NKX2-6 TBX5
4 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.92 FOXC1 GATA4 NKX2-5 TBX5

Sources for Atrial Heart Septal Defect

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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