MCID: ATR010
MIFTS: 45

Atrial Heart Septal Defect malady

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Atrial Heart Septal Defect

Aliases & Descriptions for Atrial Heart Septal Defect:

Name: Atrial Heart Septal Defect 12 14
Atrial Septal Defect 12 29 14
Congenital Atrial Septal Defect 12
Interauricular Septal Defect 12
Heart Septal Defects, Atrial 42
Interatrial Septal Defect 12
Auricular Septal Defect 12
Atrial Septal Defects 52
Atrioseptal Defect 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1882
ICD10 33 Q21.1
MeSH 42 D006344
NCIt 47 C84473
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 4 and atrial septal defect 2. An important gene associated with Atrial Heart Septal Defect is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are DREAM Repression and Dynorphin Expression and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Aspirin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include heart and in the septum, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cardiovascular system

Related Diseases for Atrial Heart Septal Defect

Diseases in the Atrial Heart Septal Defect family:

Congenital Heart Disease, Atrial Septal Defect

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

(show all 41)
id Related Disease Score Top Affiliating Genes
1 atrial septal defect 4 11.8
2 atrial septal defect 2 11.8
3 atrial septal defect 3 11.8
4 atrial septal defect 1 11.8
5 atrial septal defect 7, with or without av conduction defects 11.7
6 atrial septal defect 8 11.7
7 atrial septal defect 5 11.7
8 atrial septal defect 9 11.7
9 atrial septal defect 6 11.7
10 right inferior vena cava connecting to left-sided atrium 10.2 CRELD1 GATA4
11 left superior vena cava persisting to left-sided atrium 10.2 CRELD1 GATA4
12 brachyolmia type 3 10.1 MYH6 NKX2-5 TBX5
13 huriez syndrome 10.1 CRELD1 NKX2-6
14 third-degree atrioventricular block 10.1 GATA4 NKX2-5 TBX5
15 congenital diarrhea 7 with exudative enteropathy 10.1 GDF1 NKX2-6
16 vulvar apocrine adenocarcinoma 10.1 CRELD1 GATA4 NKX2-6 TBX5
17 paget disease, extramammary 10.0 CRELD1 GDF1 NKX2-5 NKX2-6
18 persistent eustachian valve 10.0 CRELD1 GATA4 GATA6
19 congenital benign spinal muscular atrophy dominant 10.0 CRELD1 GATA4 GATA6
20 pauciarticular chronic arthritis 10.0 CRELD1 GATA4 GATA6
21 ascending cholangitis 10.0 GDF1 NKX2-6
22 macroglossia 10.0 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
23 lutembacher's syndrome 9.9
24 fetal alcohol syndrome 9.9 GATA4 GATA6 NKX2-5 NKX2-6
25 congenital dyserythropoietic anemia 9.9
26 vulvar sebaceous carcinoma 9.8 CRELD1 GATA4 GATA6 NKX2-6 TBX5
27 xanthogranulomatous pyelonephritis 9.8 GATA4 MYH6 NKX2-5 NKX2-6 TBX20 TBX5
28 dilated cardiomyopathy 9.8
29 patent foramen ovale 9.8
30 patent ductus arteriosus 9.8
31 cardiomyopathy 9.8
32 pulmonic stenosis 9.8
33 malignant pineal area germ cell neoplasm 9.7 GATA4 GATA6 GDF1 NKX2-5 NKX2-6 TBX5
34 trichodental syndrome 9.7 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
35 pericardium disease 9.7 ACVRL1 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
36 partial fetal alcohol syndrome 9.6 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
37 ceroid lipofuscinosis, neuronal, 8 9.6 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
38 hypogonadotropic hypogonadism 12 with or without anosmia 9.6 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
39 ichthyosis 9.1 ACVRL1 CLNK CRELD1 ECI1 GATA4 GATA6
40 dentine erosion 9.0 CLNK ECI1 F2 GATA4 GATA6 MYH6
41 optic nerve disease 8.0 ACVRL1 CLNK CRELD1 ECI1 F2 FOXC1

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

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.81 FOXC1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.81 GATA6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.81 TBX5
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.81 GATA6
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.81 TBX5
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.81 F2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.81 FOXC1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.81 F2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.81 FOXC1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.81 F2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.81 F2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.81 FOXC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.81 GATA6 TBX5 F2 FOXC1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.81 FOXC1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.81 F2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.81 GATA6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.81 FOXC1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.81 TBX5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.81 TBX5
20 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.81 GATA6
21 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.81 GATA6
22 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.81 F2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.81 GATA6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.81 GATA6
25 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.81 TBX5
26 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.81 TBX5
27 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.81 GATA6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.81 GATA6

MGI Mouse Phenotypes related to Atrial Heart Septal Defect:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.26 ACVRL1 F2 FOXC1 GATA4 GATA6 GDF1
2 homeostasis/metabolism MP:0005376 10.15 ACVRL1 ECI1 F2 FOXC1 GATA4 GATA6
3 growth/size/body region MP:0005378 10.14 TLL1 ACVRL1 F2 FOXC1 GATA4 GATA6
4 embryo MP:0005380 10.13 GATA6 GDF1 NKX2-5 NKX2-6 TBX20 TBX5
5 mortality/aging MP:0010768 10.03 ACVRL1 F2 FOXC1 GATA4 GATA6 GDF1
6 digestive/alimentary MP:0005381 10 ACVRL1 F2 FOXC1 GATA4 GDF1 NKX2-5
7 muscle MP:0005369 9.81 ACVRL1 FOXC1 GATA4 GATA6 MYH6 NKX2-5
8 liver/biliary system MP:0005370 9.8 ACVRL1 FOXC1 GATA4 GATA6 GDF1 TLL1
9 normal MP:0002873 9.7 ACVRL1 F2 FOXC1 GATA4 GATA6 GDF1
10 respiratory system MP:0005388 9.23 ACVRL1 F2 FOXC1 GATA4 GATA6 GDF1

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 87)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-78-2 2244
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Warfarin Approved Phase 4,Phase 2,Phase 3 81-81-2 6691 54678486
4
Ticlopidine Approved Phase 4 55142-85-3 5472
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
8
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
11 Analgesics Phase 4,Phase 2,Phase 3
12 Chelating Agents Phase 4
13 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
14 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3
17 Anesthetics Phase 4
18 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
19 Anesthetics, Local Phase 4
20 Epinephryl borate Phase 4
21 Pharmaceutical Solutions Phase 4,Phase 3
22 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 2
23 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
24 Anticoagulants Phase 4,Phase 3,Phase 2
25 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
26 Purinergic P2 Receptor Antagonists Phase 4,Phase 2
27 Purinergic P2Y Receptor Antagonists Phase 4,Phase 2
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
29 Racepinephrine Phase 4
30 Antipyretics Phase 4,Phase 2,Phase 3
31 Antirheumatic Agents Phase 4,Phase 3,Phase 2
32 Carticaine Phase 4
33 Central Nervous System Depressants Phase 4,Phase 3
34 Adrenergic Agents Phase 4,Phase 3
35 Adrenergic Agonists Phase 4,Phase 3
36 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3
37 Adrenergic alpha-Agonists Phase 4,Phase 3
38 Hypnotics and Sedatives Phase 4,Phase 3
39 Anesthetics, Dissociative Phase 4
40 Anesthetics, General Phase 4
41 Anesthetics, Intravenous Phase 4
42 Excitatory Amino Acid Antagonists Phase 4
43 Excitatory Amino Acids Phase 4
44
Acetaminophen Approved Phase 2, Phase 3 103-90-2 1983
45
Dipyridamole Approved Phase 3 58-32-2 3108
46
Bosentan Approved, Investigational Phase 3 147536-97-8 104865
47
Rivaroxaban Approved Phase 3 366789-02-8
48
Apixaban Approved Phase 3,Phase 2 503612-47-3 10182969
49 Dabigatran Phase 3
50
protease inhibitors Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 91)
id Name Status NCT ID Phase
1 Clopidogrel For the Prevention of New Onset Migraine Headache Following Transcatheter Closure of Atrial Septal Defects Unknown status NCT00799045 Phase 4
2 PC-Trial: Patent Foramen Ovale and Cryptogenic Embolism Unknown status NCT00166257 Phase 4
3 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Unknown status NCT01536717 Phase 4
4 Device Closure Versus Medical Therapy for Cryptogenic Stroke Patients With High-Risk Patent Foramen Ovale (DEFENSE-PFO) Unknown status NCT01550588 Phase 4
5 Long-term Safety Study of the GORE® HELEX® Septal Occluder Completed NCT00581308 Phase 4
6 Patent Foramen Ovale in Cryptogenic Stroke Study Completed NCT00697151 Phase 4
7 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Recruiting NCT02867930 Phase 4
8 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
9 MIST II PFO-Migraine Trial With BioSTAR® Bioabsorbable Septal Repair Implant Unknown status NCT00283738 Phase 2, Phase 3
10 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
11 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3
12 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
13 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
14 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
15 Patent Foramen Ovale Closure or Anticoagulants Versus Antiplatelet Therapy to Prevent Stroke Recurrence Completed NCT00562289 Phase 3
16 GORE® HELEX® Septal Occluder / GORE® Septal Occluder for Patent Foramen Ovale (PFO) Closure in Stroke Patients - The Gore REDUCE Clinical Study Active, not recruiting NCT00738894 Phase 3
17 ESCAPE Migraine Trial Terminated NCT00267371 Phase 3
18 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
19 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
20 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
21 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
22 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
23 Premium Migraine Trial Completed NCT00355056 Phase 2
24 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Not yet recruiting NCT02777359 Phase 2
25 PRIMA PFO Migraine Trial Terminated NCT00505570 Phase 2
26 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2
27 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
28 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046
29 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936
30 InterSEPT: In‐Tunnel SeptRx European PFO Trial Unknown status NCT01385670
31 Pivotal Study of a Percutaneous Mitral Valve Repair System Unknown status NCT00209274
32 International PFO Consortium Unknown status NCT00859885
33 Prospective Clinical Follow-up After the Percutaneous Closure of a Patent Foramen Ovale Unknown status NCT01149447
34 Influence of Position on Detection of Patent Foramen Ovale by Simultaneous Transesophageal Echo and Transcranial Doppler Unknown status NCT02383836
35 Paradigm I Clinical Trial: Study of the PFX Closure System in Subjects With Cryptogenic Stroke, Transient Ischemia Attack or Paradoxical Embolism Unknown status NCT00196027
36 Timing of Closure of Patent Foramen Ovale Following Birth Unknown status NCT01032785
37 Clinical Proteomic Research for the Brain Unknown status NCT00983723
38 Fluid Balance During Closure of Atrial Septal Defect Completed NCT01757743
39 Magnetic Resonance Imaging of Atrial Septal Defects Completed NCT00498446
40 Pulmonary Hypertension in Trisomy 21 Patients Completed NCT00478296
41 Safety and Effectiveness Study of the Solysafe Septal Occluder Completed NCT00353509
42 Cardiac Troponin T After Transcatheter Closure of the Interatrial Septum Completed NCT03099967
43 Safety and Effectiveness Study of the Solysafe Septal Occluder in Patients With Atrial Septum Defect and Patent Foramen Ovale Completed NCT00207376
44 Procedural Success and Safety of the Nit-Occlud® Patent Foramen Ovale (PFO) Closure Device and Its Application System Completed NCT00968032
45 Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease Completed NCT00005546
46 Molecular Genetic Epidemiology of Endocardial Cushion Defects - SCOR in Pediatric Cardiovascular Disease Completed NCT00005322
47 Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt Lesions Completed NCT02552485
48 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
49 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
50 EVEREST II Pivotal Study High Risk Registry (HRR) Completed NCT01940120

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:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 29

Anatomical Context for Atrial Heart Septal Defect

MalaCards organs/tissues related to Atrial Heart Septal Defect:

39
Heart

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

18
In The Septum

Publications for Atrial Heart Septal Defect

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

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

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.91 ACVRL1 FOXC1 GATA4 GATA6 NKX2-5 TBX20
2 heart development GO:0007507 9.88 FOXC1 NKX2-5 NKX2-6 TBX5
3 in utero embryonic development GO:0001701 9.86 ACVRL1 FOXC1 GATA6 MYH6
4 positive regulation of angiogenesis GO:0045766 9.82 ACVRL1 GATA4 GATA6
5 heart looping GO:0001947 9.71 GATA4 NKX2-5 TBX20
6 BMP signaling pathway GO:0030509 9.71 ACVRL1 GDF1 MYH6 NKX2-5
7 ventricular septum development GO:0003281 9.66 GATA4 TBX5
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.66 FOXC1 MYH6
9 cardiac muscle tissue development GO:0048738 9.65 GATA6 NKX2-5
10 pharyngeal system development GO:0060037 9.65 NKX2-5 NKX2-6
11 positive regulation of BMP signaling pathway GO:0030513 9.65 ACVRL1 GATA4 GATA6
12 endocardial cushion morphogenesis GO:0003203 9.64 ACVRL1 TBX20
13 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 GATA6 MYH6
14 cardiac septum development GO:0003279 9.63 CRELD1 TBX20
15 outflow tract septum morphogenesis GO:0003148 9.63 GATA6 NKX2-5 TBX20
16 cardiac muscle cell proliferation GO:0060038 9.62 FOXC1 NKX2-5
17 cardiac right ventricle morphogenesis GO:0003215 9.61 GATA4 TBX20
18 cardiac muscle tissue morphogenesis GO:0055008 9.61 NKX2-5 TBX20
19 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 GATA6 TBX20 TBX5
20 adult heart development GO:0007512 9.6 MYH6 NKX2-5
21 ventricular cardiac muscle cell development GO:0055015 9.59 NKX2-5 NKX2-6
22 cardiac ventricle morphogenesis GO:0003208 9.58 GATA4 NKX2-5
23 pericardium development GO:0060039 9.57 NKX2-6 TBX5
24 cardiac muscle cell differentiation GO:0055007 9.56 GATA4 GATA6 NKX2-5 TBX5
25 intestinal epithelial cell differentiation GO:0060575 9.55 GATA4 GATA6
26 atrial cardiac muscle cell development GO:0055014 9.51 NKX2-5 NKX2-6
27 endocardial cushion development GO:0003197 9.5 CRELD1 GATA4 TBX5
28 bundle of His development GO:0003166 9.49 NKX2-5 TBX5
29 embryonic heart tube development GO:0035050 9.46 FOXC1 NKX2-5 NKX2-6 TBX20
30 atrial septum morphogenesis GO:0060413 9.26 GATA4 NKX2-5 TBX20 TBX5
31 positive regulation of cardioblast differentiation GO:0051891 8.92 GATA4 GATA6 NKX2-5 TBX5
32 regulation of transcription, DNA-templated GO:0006355 10.27 ACVRL1 FOXC1 GATA4 GATA6 NKX2-5 NKX2-6
33 multicellular organism development GO:0007275 10.13 F2 NKX2-5 NKX2-6 TBX20 TBX5 TLL1
34 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.07 ACVRL1 FOXC1 GATA4 GATA6 NKX2-5 TBX20
35 transcription from RNA polymerase II promoter GO:0006366 10.02 FOXC1 GATA4 GATA6 NKX2-5 TBX20

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.87 FOXC1 GATA4 GATA6 NKX2-5 NKX2-6 TBX20
2 protein kinase binding GO:0019901 9.76 ACVRL1 GATA4 GATA6 MYH6
3 transcription regulatory region DNA binding GO:0044212 9.73 FOXC1 GATA4 GATA6 NKX2-5
4 sequence-specific DNA binding GO:0043565 9.73 FOXC1 GATA4 GATA6 NKX2-5 NKX2-6 TBX5
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.58 FOXC1 GATA6 NKX2-5
6 transcription factor binding GO:0008134 9.55 FOXC1 GATA4 GATA6 NKX2-5 TBX5
7 RNA polymerase II transcription factor binding GO:0001085 9.54 GATA4 GATA6 TBX20
8 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.35 FOXC1 GATA4 GATA6 TBX20 TBX5
9 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.02 FOXC1 GATA4 GATA6 NKX2-5 TBX5

Sources for Atrial Heart Septal Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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