MCID: HRT011
MIFTS: 40

Heart Septal Defect malady

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Septal Defect

Aliases & Descriptions for Heart Septal Defect:

Name: Heart Septal Defect 12 14
Heart Septal Defects 42 69
Septal Defect 12 52
Congenital Septal Defect of Heart 12
Cardiac Septal Defects 12
Septal Defect Nos 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1681
ICD10 33 Q21 Q21.9
MeSH 42 D006343
NCIt 47 C84482
UMLS 69 C0018816

Summaries for Heart Septal Defect

MalaCards based summary : Heart Septal Defect, also known as heart septal defects, is related to atrial heart septal defect and lymphedema, cardiac septal defects, and characteristic facies. 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 Human Embryonic Stem Cell Pluripotency. The drugs Aspirin and Ticlopidine have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and cellular

Wikipedia : 71 Heart septal defect refers to a congenital heart defect of one of the septa of the... more...

Related Diseases for Heart Septal Defect

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 12.3
2 lymphedema, cardiac septal defects, and characteristic facies 12.1
3 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 12.0
4 atrial septal defect 4 11.6
5 atrial septal defect 2 11.6
6 atrial septal defect 3 11.6
7 atrial septal defect 1 11.6
8 ventricular septal defect 11.6
9 atrial septal defect 7, with or without av conduction defects 11.5
10 atrial septal defect 8 11.5
11 atrial septal defect 5 11.5
12 atrial septal defect 9 11.5
13 atrial septal defect 6 11.5
14 hyperphosphatasia with mental retardation syndrome 2 11.0
15 mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones 10.9
16 koolen-de vries syndrome 10.8
17 atrioventricular septal defect 10.8
18 right inferior vena cava connecting to left-sided atrium 10.3 CRELD1 GATA4
19 left superior vena cava persisting to left-sided atrium 10.3 CRELD1 GATA4
20 persistent eustachian valve 10.2 CRELD1 GATA4 GATA6
21 congenital benign spinal muscular atrophy dominant 10.2 CRELD1 GATA4 GATA6
22 pauciarticular chronic arthritis 10.2 CRELD1 GATA4 GATA6
23 neuropathy, hereditary sensory and autonomic, type vi 10.2 CITED2 NKX2-5 TBX5
24 congenital diarrhea 7 with exudative enteropathy 10.2 CFC1 GDF1 NKX2-6
25 third-degree atrioventricular block 10.2 GATA4 NKX2-5 TBX5
26 vulvar apocrine adenocarcinoma 10.2 CRELD1 GATA4 NKX2-6 TBX5
27 mevalonic aciduria 10.2 CFC1 GDF1
28 brachyolmia type 3 10.1 NKX2-5 TBX1 TBX5
29 fetal alcohol syndrome 10.1 GATA4 GATA6 NKX2-5 NKX2-6
30 macroglossia 10.1 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
31 vulvar sebaceous carcinoma 10.1 CRELD1 GATA4 GATA6 NKX2-6 TBX5
32 prolidase deficiency 10.1 BMP10 GDF1
33 skull base neoplasm 10.1 GATA4 GATA6 ZFPM2
34 paget disease, extramammary 10.0 CRELD1 GDF1 NKX2-5 NKX2-6 ZFPM2
35 pericardium disease 10.0 ACVRL1 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
36 partial fetal alcohol syndrome 9.9 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
37 jmp syndrome 9.9 CFC1 GDF1 NODAL
38 dentine erosion 9.8 CITED2 CLNK GATA4 GATA6 NKX2-5 NKX2-6
39 heart disease 9.7
40 optic nerve disease 9.7 ACVRL1 CLNK CRELD1 GATA4 GATA6 GDF1
41 malignant pineal area germ cell neoplasm 9.7 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
42 floating-harbor syndrome 9.6
43 microcephaly 9.6
44 trichodental syndrome 9.6 CFC1 CRELD1 GATA4 GATA6 GDF1 NKX2-5
45 xanthogranulomatous pyelonephritis 9.6 CFC1 GATA4 NKX2-5 NKX2-6 TBX1 TBX20
46 ceroid lipofuscinosis, neuronal, 8 9.6 CITED2 CRELD1 GATA4 GATA6 GDF1 NKX2-5
47 hypogonadotropic hypogonadism 12 with or without anosmia 9.0 CFC1 CITED2 CRELD1 GATA4 GATA6 GDF1
48 ichthyosis 7.9 ACVRL1 BMP10 CA5B CFC1 CITED2 CLNK

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:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.4 ACVRL1 BMP10 CITED2 GATA4 GATA6 GDF1
2 cellular MP:0005384 10.32 CA5B CITED2 GATA4 GATA6 GDF1 MEF2C
3 growth/size/body region MP:0005378 10.28 ACVRL1 BMP10 CA5B CITED2 GATA4 GATA6
4 embryo MP:0005380 10.27 TBX20 TBX5 ACVRL1 BMP10 CITED2 GATA4
5 homeostasis/metabolism MP:0005376 10.18 CITED2 GATA4 GATA6 NKX2-5 NKX2-6 NODAL
6 mortality/aging MP:0010768 10.16 CA5B CITED2 GATA4 GATA6 GDF1 MEF2C
7 hematopoietic system MP:0005397 10.14 ACVRL1 BMP10 CITED2 CLNK GATA4 GATA6
8 craniofacial MP:0005382 10.04 ACVRL1 CITED2 GDF1 MEF2C NKX2-5 NODAL
9 digestive/alimentary MP:0005381 10.02 TBX1 ACVRL1 CITED2 GATA4 GDF1 NKX2-5
10 muscle MP:0005369 9.93 ACVRL1 BMP10 GATA4 GATA6 MEF2C NKX2-5
11 limbs/digits/tail MP:0005371 9.87 GATA6 MEF2C TBX1 TBX5 BMP10 CITED2
12 normal MP:0002873 9.8 TBX5 ZFPM2 ACVRL1 BMP10 CITED2 GATA4
13 respiratory system MP:0005388 9.4 ACVRL1 CITED2 GATA4 GATA6 GDF1 MEF2C

Drugs & Therapeutics for Heart Septal Defect

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

(show top 50) (show all 124)
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
Ticlopidine Approved Phase 4 55142-85-3 5472
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
6
Warfarin Approved Phase 4,Phase 2,Phase 3 81-81-2 6691 54678486
7
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
8
Ketamine Approved, Vet_approved Phase 4,Phase 2 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,Phase 1
12 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
13 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
15 Antipyretics Phase 4,Phase 2,Phase 3
16 Antirheumatic Agents Phase 4,Phase 3,Phase 2
17 Chelating Agents Phase 4
18 Cyclooxygenase Inhibitors Phase 4,Phase 3,Phase 2
19 Cytochrome P-450 Enzyme Inhibitors Phase 4
20 Fibrinolytic Agents Phase 4,Phase 3,Phase 2
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
22 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
23 Platelet Aggregation Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
24 Purinergic P2 Receptor Antagonists Phase 4,Phase 2
25 Purinergic P2Y Receptor Antagonists Phase 4,Phase 2
26 Anesthetics Phase 4,Phase 2
27 Anesthetics, Local Phase 4
28 Carticaine Phase 4
29 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
30 Epinephryl borate Phase 4
31 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
32 Racepinephrine Phase 4
33 Anticoagulants Phase 4,Phase 3,Phase 2
34 Adrenergic Agents Phase 4,Phase 3,Phase 1
35 Adrenergic Agonists Phase 4,Phase 3,Phase 1
36 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1
37 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1
38 Anesthetics, Dissociative Phase 4,Phase 2
39 Anesthetics, General Phase 4,Phase 2
40 Anesthetics, Intravenous Phase 4,Phase 2
41 Excitatory Amino Acid Antagonists Phase 4,Phase 2
42 Excitatory Amino Acids Phase 4,Phase 2
43 Hypnotics and Sedatives Phase 4,Phase 3,Phase 1
44 Adrenergic beta-2 Receptor Agonists Phase 4
45 Adrenergic beta-Agonists Phase 4
46 Albuterol Phase 4
47 Anti-Asthmatic Agents Phase 4
48 Autonomic Agents Phase 4
49 Bronchodilator Agents Phase 4
50 Respiratory System Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 140)
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 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4
9 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
10 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
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
13 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3
14 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3
15 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
16 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 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
19 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Recruiting NCT02644330 Phase 2, Phase 3
20 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
21 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
22 ESCAPE Migraine Trial Terminated NCT00267371 Phase 3
23 Right to Left Cardiac Shunt Detection Terminated NCT01773252 Phase 3
24 Angiotensin Converting Enzyme Inhibition in Children With Mitral Regurgitation Terminated NCT00113698 Phase 3
25 Cardiox Shunt Detection Technology Study Terminated NCT01333761 Phase 3
26 Intravenous L-Citrulline to Treat Children Undergoing Heart Bypass Surgery : Revised Protocol Completed NCT01120964 Phase 1, Phase 2
27 Use of Ketamine Prior to Cardiopulmonary Bypass in Children Completed NCT00556361 Phase 2
28 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2
29 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2
30 Premium Migraine Trial Completed NCT00355056 Phase 2
31 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
32 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
33 Left Ventricular Septum Pacing in Patients by Transvenous Approach Through the Inter-ventricular Septum Completed NCT01609738 Phase 1, Phase 2
34 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Not yet recruiting NCT02777359 Phase 2
35 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
36 Catheter Thrombectomy in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
37 PRIMA PFO Migraine Trial Terminated NCT00505570 Phase 2
38 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2
39 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1
40 Closure of Muscular Ventricular Septal Defects With The AMPLATZER® Muscular VSD Occluder Unknown status NCT00583791 Phase 1
41 Closure of Perimembranous Ventricular Septal Defects With The AMPLATZER® Membranous VSD OCCLUDER Completed NCT00578708 Phase 1
42 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1
43 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
44 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Enrolling by invitation NCT02280824 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 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046
48 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936
49 InterSEPT: In‐Tunnel SeptRx European PFO Trial Unknown status NCT01385670
50 Influence of Position on Detection of Patent Foramen Ovale by Simultaneous Transesophageal Echo and Transcranial Doppler Unknown status NCT02383836

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:

39
Heart

Publications for Heart Septal Defect

Articles related to Heart Septal Defect:

id 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

Variations for Heart Septal Defect

Copy number variations for Heart Septal Defect from CNVD:

7 (show all 28)
id 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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 GATA4 GATA6 NODAL TBX1
2
Show member pathways
12.29 BMP10 CFC1 GATA4 MEF2C NKX2-5 TBX5
3
Show member pathways
12.26 ACVRL1 GATA4 GATA6 NKX2-5
4
Show member pathways
12.01 GATA4 MEF2C NKX2-5 TBX5
5 11.76 GATA4 MEF2C NKX2-5 NODAL TBX5 TNNI3
6 11.7 GATA4 MEF2C NKX2-5 TBX5 TNNI3
7
Show member pathways
11.28 CFC1 GDF1 NODAL
8 11.22 GATA4 MEF2C NKX2-5 NODAL TBX20 TBX5
9 10.9 BMP10 GATA4 MEF2C NKX2-5
10 10.89 BMP10 GATA4 GATA6 MEF2C NKX2-5 TBX1
11 10.59 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 60)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.98 ACVRL1 GATA6 NODAL ZFPM2
2 positive regulation of angiogenesis GO:0045766 9.92 ACVRL1 GATA4 GATA6 NODAL
3 BMP signaling pathway GO:0030509 9.92 ACVRL1 BMP10 GDF1 NKX2-5 NODAL
4 negative regulation of cell migration GO:0030336 9.91 ACVRL1 BMP10 CITED2 TBX5
5 positive regulation of transcription, DNA-templated GO:0045893 9.9 ACVRL1 BMP10 CITED2 GATA4 GATA6 MEF2C
6 lung development GO:0030324 9.89 NODAL TBX5 ZFPM2
7 determination of left/right symmetry GO:0007368 9.88 CFC1 CITED2 NODAL TBX1
8 heart looping GO:0001947 9.88 GATA4 MEF2C NKX2-5 NODAL TBX20
9 liver development GO:0001889 9.87 CITED2 GATA6 NODAL
10 SMAD protein signal transduction GO:0060395 9.85 BMP10 GDF1 NODAL
11 vasculogenesis GO:0001570 9.85 NKX2-5 TNNI3 ZFPM2
12 outflow tract morphogenesis GO:0003151 9.85 CITED2 MEF2C NKX2-5 TBX1 TBX20
13 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.84 ACVRL1 BMP10 GDF1 NODAL
14 positive regulation of BMP signaling pathway GO:0030513 9.82 ACVRL1 GATA4 GATA6
15 ventricular septum morphogenesis GO:0060412 9.8 CITED2 NKX2-5 ZFPM2
16 embryonic heart tube development GO:0035050 9.8 NKX2-5 NKX2-6 NODAL TBX20
17 cardiac muscle tissue development GO:0048738 9.77 GATA6 NKX2-5 ZFPM2
18 cardiac muscle cell differentiation GO:0055007 9.77 GATA4 GATA6 MEF2C NKX2-5 TBX5
19 pharyngeal system development GO:0060037 9.76 NKX2-5 NKX2-6 TBX1
20 regulation of cardiac muscle contraction GO:0055117 9.73 BMP10 NKX2-5
21 negative regulation of endothelial cell migration GO:0010596 9.73 ACVRL1 BMP10
22 endocardial cushion development GO:0003197 9.73 CRELD1 GATA4 TBX5
23 atrial septum morphogenesis GO:0060413 9.73 GATA4 NKX2-5 TBX20 TBX5
24 activin receptor signaling pathway GO:0032924 9.72 ACVRL1 BMP10
25 endocardial cushion morphogenesis GO:0003203 9.72 ACVRL1 TBX20
26 heart contraction GO:0060047 9.72 NKX2-5 TNNI3
27 heart trabecula formation GO:0060347 9.72 BMP10 NKX2-5
28 ventricular cardiac muscle cell development GO:0055015 9.72 BMP10 NKX2-5 NKX2-6
29 outflow tract septum morphogenesis GO:0003148 9.72 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
30 cardiac muscle hypertrophy in response to stress GO:0014898 9.71 GATA6 MEF2C
31 smooth muscle cell differentiation GO:0051145 9.71 GATA6 MEF2C
32 cardiac septum development GO:0003279 9.71 CRELD1 TBX20
33 cardiac muscle cell proliferation GO:0060038 9.7 BMP10 NKX2-5
34 cardiac right ventricle morphogenesis GO:0003215 9.7 GATA4 TBX20
35 cardiac muscle tissue morphogenesis GO:0055008 9.7 NKX2-5 TBX20
36 adult heart development GO:0007512 9.69 BMP10 NKX2-5
37 positive regulation of cell-cell adhesion GO:0022409 9.69 CITED2 NODAL
38 embryonic viscerocranium morphogenesis GO:0048703 9.69 MEF2C TBX1
39 cardiac ventricle morphogenesis GO:0003208 9.68 GATA4 NKX2-5
40 pericardium development GO:0060039 9.68 NKX2-6 TBX5
41 positive regulation of male gonad development GO:2000020 9.68 CITED2 ZFPM2
42 nodal signaling pathway GO:0038092 9.67 CFC1 NODAL
43 transdifferentiation GO:0060290 9.66 GATA4 MEF2C
44 intestinal epithelial cell differentiation GO:0060575 9.66 GATA4 GATA6
45 cardiac ventricle formation GO:0003211 9.65 MEF2C NKX2-5
46 embryonic heart tube left/right pattern formation GO:0060971 9.65 CITED2 NKX2-5
47 atrial cardiac muscle cell development GO:0055014 9.64 NKX2-5 NKX2-6
48 bundle of His development GO:0003166 9.64 NKX2-5 TBX5
49 nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry GO:1900164 9.63 CITED2 NODAL
50 right ventricular cardiac muscle tissue morphogenesis GO:0003221 9.6 NKX2-5 ZFPM2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.85 CITED2 GATA4 GATA6 MEF2C NKX2-5
2 transcription regulatory region DNA binding GO:0044212 9.8 GATA4 GATA6 MEF2C NKX2-5
3 transcription factor binding GO:0008134 9.8 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
4 sequence-specific DNA binding GO:0043565 9.7 GATA4 GATA6 MEF2C NKX2-5 NKX2-6 TBX1
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.65 GATA6 MEF2C NKX2-5
6 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.65 GATA4 GATA6 MEF2C TBX20 TBX5
7 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.62 GATA4 GATA6 NKX2-5 TBX5
8 transforming growth factor beta receptor binding GO:0005160 9.61 BMP10 GDF1 NODAL
9 RNA polymerase II transcription coactivator activity GO:0001105 9.54 CITED2 TBX20 ZFPM2
10 transcription factor activity, sequence-specific DNA binding GO:0003700 9.28 CITED2 GATA4 GATA6 MEF2C NKX2-5 NKX2-6
11 RNA polymerase II transcription factor binding GO:0001085 9.26 GATA4 GATA6 TBX20 ZFPM2

Sources for 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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