MCID: HRT011
MIFTS: 40

Heart Septal Defect

Categories: Cardiovascular diseases

Aliases & Classifications for Heart Septal Defect

MalaCards integrated aliases 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 brain, and related phenotypes are cardiovascular system and cellular

Wikipedia : 72 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 top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 atrial heart septal defect 12.3
2 lymphedema, cardiac septal defects, and characteristic facies 12.0
3 atrial septal defect 3 11.6
4 atrial septal defect 1 11.6
5 ventricular septal defect 11.6
6 atrial septal defect 4 11.6
7 atrial septal defect 2 11.6
8 hypotonia, infantile, with psychomotor retardation 11.5
9 atrial septal defect 5 11.5
10 atrial septal defect 9 11.5
11 atrial septal defect 6 11.5
12 atrial septal defect 7, with or without av conduction defects 11.5
13 atrial septal defect 8 11.5
14 cardiospondylocarpofacial syndrome 11.0
15 hyperphosphatasia with mental retardation syndrome 2 11.0
16 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 10.8
17 complete atrioventricular canal-left heart obstruction syndrome 10.8 CRELD1 GATA4
18 koolen-de vries syndrome 10.8
19 atrioventricular septal defect 10.8
20 persistent eustachian valve 10.8 CRELD1 GATA4
21 idiopathic recurrent pericarditis 10.6 GATA4 ZFPM2
22 second-degree atrioventricular block 10.5 GATA4 NKX2-5 TBX5
23 patent ductus arteriosus 2 10.5 CITED2 NKX2-5 TBX5
24 fleck retina of kandori 10.5 CRELD1 NKX2-6
25 congenital diarrhea 7 with exudative enteropathy 10.5 CFC1 GDF1 NKX2-6
26 dhdds-cdg 10.5 CITED2 NODAL
27 inferior vena cava interruption 10.5 CRELD1 GATA4 GATA6
28 joubert syndrome 13 10.5 NKX2-5 TBX1 TBX5
29 pasli disease 10.5 CRELD1 GATA4 GATA6
30 progressive multifocal leukoencephalopathy 10.4 CRELD1 GATA4 NKX2-6 TBX5
31 childhood parosteal osteogenic sarcoma 10.4 CRELD1 NODAL
32 hing torack dowston syndrome 10.4 CFC1 GDF1 NODAL
33 ascending cholangitis 10.4 GDF1 NKX2-6
34 x-linked sideroblastic anemia with ataxia 10.3 CFC1 GDF1 NODAL
35 mannosidosis, alpha-, types i and ii 10.3 BMP10 GDF1
36 skull base neoplasm 10.3 GATA4 GATA6 ZFPM2
37 vitelliform macular dystrophy 10.2 GATA4 GATA6 NKX2-5 NKX2-6
38 macroglossia 10.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
39 cervical serous adenocarcinoma 10.1 CRELD1 GATA4 GATA6 NKX2-6 TBX5
40 cloacal exstrophy 10.1 NKX2-6 TBX1
41 takayasu arteritis 9.9 CRELD1 GDF1 MESP1 NKX2-5 NKX2-6 ZFPM2
42 heart disease 9.7
43 floating-harbor syndrome 9.6
44 microcephaly 9.6
45 artery disease 9.6 ACVRL1 CRELD1 GATA6 GDF1 NKX2-5 NKX2-6
46 fetal alcohol syndrome 9.4 CRELD1 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
47 dentine erosion 9.4 CITED2 CLNK GATA4 GATA6 NKX2-5 NKX2-6
48 malignant pineal area germ cell neoplasm 9.2 CITED2 GATA4 GATA6 GDF1 NKX2-5 NKX2-6
49 tricho odonto onycho dermal syndrome 9.1 CFC1 CRELD1 GATA4 GATA6 GDF1 NKX2-5
50 optic nerve disease 9.1 ACVRL1 CLNK CRELD1 GATA4 GDF1 NKX2-5

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 MEF2C MESP1 NKX2-5 NKX2-6 NODAL TBX1
2 cellular MP:0005384 10.36 ZFPM2 NKX2-6 NODAL TBX1 TBX20 BMP10
3 growth/size/body region MP:0005378 10.31 ACVRL1 BMP10 CA5B CITED2 GATA4 GATA6
4 embryo MP:0005380 10.3 ACVRL1 BMP10 CITED2 GATA4 GATA6 GDF1
5 homeostasis/metabolism MP:0005376 10.21 ACVRL1 BMP10 CA5B CITED2 GATA4 GATA6
6 hematopoietic system MP:0005397 10.18 CLNK GATA4 GATA6 GDF1 MEF2C MESP1
7 mortality/aging MP:0010768 10.16 TBX1 TBX20 TBX5 ZFPM2 ACVRL1 BMP10
8 craniofacial MP:0005382 10.1 ACVRL1 CITED2 GDF1 MEF2C MESP1 NKX2-5
9 digestive/alimentary MP:0005381 10.02 NODAL TBX1 ACVRL1 CITED2 GATA4 GDF1
10 muscle MP:0005369 9.93 ACVRL1 BMP10 GATA4 GATA6 MEF2C MESP1
11 limbs/digits/tail MP:0005371 9.87 BMP10 CITED2 GATA4 GATA6 MEF2C TBX1
12 normal MP:0002873 9.83 MEF2C MESP1 NKX2-5 NKX2-6 NODAL TBX1
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 122)
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 Racepinephrine Approved Phase 4
7
Warfarin Approved Phase 4,Phase 2,Phase 3 81-81-2 6691 54678486
8
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032
9
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Clopidogrel Approved, Nutraceutical Phase 4,Phase 3,Phase 2 120202-66-6, 113665-84-2 60606
12 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
13 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
14 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Phase 3,Phase 2
16 Antipyretics Phase 4,Phase 2,Phase 3
17 Antirheumatic Agents Phase 4,Phase 3,Phase 2
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 Anticoagulants Phase 4,Phase 3,Phase 2
33 Adrenergic Agents Phase 4,Phase 3,Phase 1
34 Adrenergic Agonists Phase 4,Phase 3,Phase 1
35 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1
36 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1
37 Anesthetics, Dissociative Phase 4,Phase 2
38 Anesthetics, General Phase 4,Phase 2
39 Anesthetics, Intravenous Phase 4,Phase 2
40 Excitatory Amino Acid Antagonists Phase 4,Phase 2
41 Excitatory Amino Acids Phase 4,Phase 2
42 Hypnotics and Sedatives Phase 4,Phase 3,Phase 1
43 Coagulants Phase 4
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 141)

id 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 Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery Unknown status NCT01536717 Phase 4 Articaine hydrochloride 2% solution;Sodium Chloride
4 Patent Foramen Ovale in Cryptogenic Stroke Study Completed NCT00697151 Phase 4 Warfarin;Aspirin
5 Comparative Effects of Dexmedetomidine and Ketofol for Sedation in Patients Undergoing Trans-esophageal Echocardiography Recruiting NCT02867930 Phase 4 Dexmedetomidine;Ketofol(ketamine+propofol)
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 The Cardiopulmonary Effect of Inhaled Beta-2-agonists on Adult Patients Born With Ventricular Septum Defects. Not yet recruiting NCT02914652 Phase 4 Salbutamol;Norflouran (Placebo Evohaler(R) )
8 Endoscopic Closure of Tracheoesophageal Fistulas With Occluder Device Terminated NCT01153061 Phase 4
9 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
10 MIST II PFO-Migraine Trial With BioSTAR® Bioabsorbable Septal Repair Implant Unknown status NCT00283738 Phase 2, Phase 3
11 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
12 Bosentan for Mild Pulmonary Vascular Disease in Asd Patients. Completed NCT01218607 Phase 3 Bosentan;Placebo
13 The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease Completed NCT00480740 Phase 3 Dexmedetomidine
14 Concomitant Utilization of Radio Frequency Energy for Atrial Fibrillation (CURE-AF) Study Completed NCT00431834 Phase 3
15 Medtronic Concomitant Utilization of Radio Frequency for Atrial Fibrillation CURE-AF/Persistent Completed NCT00506493 Phase 3
16 Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest Completed NCT00000470 Phase 3
17 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
18 Minimally Invasive Transthoracic Device Closure in Perimembranous Ventricular Septal Defect Recruiting NCT02644330 Phase 2, Phase 3
19 Safety and Effectiveness of the Nit-Occlud® Lê VSD Spiral Coil System Suspended NCT00390702 Phase 2, Phase 3
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 Oral Sildenafil and Intravenous Milrinone on Postoperative Pulmonary Hypertension Completed NCT02595541 Phase 1, Phase 2 milrinone;Sildenafil
27 Hypertonic Saline Dextran in Pediatric Cardiac Surgery Completed NCT00199771 Phase 2 7.5% NaCl in 6% dextran 70 solution
28 Premium Migraine Trial Completed NCT00355056 Phase 2
29 Feasibility Trial of the DC Devices Interatrial Septal Device (IASD) System Completed NCT01570517 Phase 1, Phase 2
30 Intra-Cardiac Echocardiography Guided Cardioversion(ICE-CHIP) Study Completed NCT00281073 Phase 1, Phase 2
31 Precutaneous High Risk Patent Foramen Ovale to Treat Migraine Headaches Recruiting NCT02777359 Phase 2
32 Mesoblast Stem Cell Therapy for Patients With Single Ventricle and Borderline Left Ventricle Not yet recruiting NCT03079401 Phase 1, Phase 2
33 Catheter Thrombectomy in Patients With Massive Pulmonary Embolism Terminated NCT00314002 Phase 1, Phase 2
34 PRIMA PFO Migraine Trial Terminated NCT00505570 Phase 2
35 Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical Emboli Withdrawn NCT02378623 Phase 2 Apixaban;Placebo
36 Aberrations in Carnitine Homeostasis in Congenital Heart Disease With Increased Pulmonary Blood Flow Unknown status NCT01825369 Phase 1 IV L-carnitine
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 Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access Completed NCT02280824 Phase 1
40 A Phase I Study of Dexmedetomidine Bolus and Infusion in Corrective Infant Cardiac Surgery: Safety and Pharmacokinetics Recruiting NCT01915277 Phase 1 Dexmedetomidine
41 Radiation-Free Heart Catheterization Using MRI Recruiting NCT02739087 Phase 1
42 Utilization of Confocal Microscopy During Cardiac Surgery Not yet recruiting NCT03189134 Phase 1 Fluorescite
43 Study of Energy Expenditure in Infants With Ventricular Septal Defects Unknown status NCT00006272
44 Aortic Regurgitation After Surgical Repair of Outlet-Type Ventricular Septal Defect Unknown status NCT00173186
45 Study of Blood Clotting After Transcatheter Atrial Septal Defect Closure Unknown status NCT01086046 Low molecular weight heparin
46 Closure of Atrial Septal Defects With the AMPLATZER Septal Occluder - Post Approval Study Unknown status NCT00650936
47 InterSEPT: In‐Tunnel SeptRx European PFO Trial Unknown status NCT01385670
48 Hyperion™ International Registry Trial Unknown status NCT02220270
49 Quality of Life Study About the Role of Turbinectomy in Rhinoseptoplasty Unknown status NCT02231216
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, Brain

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

GO Terms for Heart Septal Defect

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

(show top 50) (show all 69)
id Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.95 ACVRL1 BMP10 GDF1 NKX2-5 NODAL
2 positive regulation of angiogenesis GO:0045766 9.94 ACVRL1 GATA4 GATA6 NODAL
3 negative regulation of cell migration GO:0030336 9.93 ACVRL1 BMP10 CITED2 TBX5
4 lung development GO:0030324 9.91 NODAL TBX5 ZFPM2
5 outflow tract morphogenesis GO:0003151 9.91 CITED2 MEF2C NKX2-5 TBX1 TBX20
6 liver development GO:0001889 9.9 CITED2 GATA6 NODAL
7 in utero embryonic development GO:0001701 9.9 ACVRL1 GATA6 NODAL ZFPM2
8 determination of left/right symmetry GO:0007368 9.88 CFC1 CITED2 NODAL TBX1
9 SMAD protein signal transduction GO:0060395 9.87 BMP10 GDF1 NODAL
10 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.86 ACVRL1 BMP10 GDF1 NODAL
11 heart morphogenesis GO:0003007 9.85 MESP1 NKX2-5 TBX1
12 positive regulation of BMP signaling pathway GO:0030513 9.84 ACVRL1 GATA4 GATA6
13 gastrulation GO:0007369 9.83 CFC1 MESP1 NODAL
14 ventricular septum morphogenesis GO:0060412 9.83 CITED2 NKX2-5 ZFPM2
15 embryonic heart tube development GO:0035050 9.83 NKX2-5 NKX2-6 NODAL TBX20
16 outflow tract septum morphogenesis GO:0003148 9.83 GATA6 NKX2-5 TBX1 TBX20 ZFPM2
17 heart development GO:0007507 9.81 BMP10 CITED2 MEF2C NKX2-5 NKX2-6 NODAL
18 atrial septum morphogenesis GO:0060413 9.8 GATA4 NKX2-5 TBX20 TBX5
19 positive regulation of cardiac muscle cell proliferation GO:0060045 9.8 BMP10 GATA6 MEF2C TBX20 TBX5 ZFPM2
20 cardiac muscle tissue development GO:0048738 9.78 GATA6 NKX2-5 ZFPM2
21 pharyngeal system development GO:0060037 9.77 NKX2-5 NKX2-6 TBX1
22 regulation of cardiac muscle contraction GO:0055117 9.74 BMP10 NKX2-5
23 negative regulation of endothelial cell migration GO:0010596 9.74 ACVRL1 BMP10
24 male gonad development GO:0008584 9.74 GATA4 GATA6
25 activin receptor signaling pathway GO:0032924 9.74 ACVRL1 BMP10
26 endocardial cushion morphogenesis GO:0003203 9.74 ACVRL1 TBX20
27 ventricular cardiac muscle cell development GO:0055015 9.74 BMP10 NKX2-5 NKX2-6
28 heart trabecula formation GO:0060347 9.73 BMP10 NKX2-5
29 cardiac muscle cell proliferation GO:0060038 9.73 BMP10 NKX2-5
30 smooth muscle cell differentiation GO:0051145 9.73 GATA6 MEF2C
31 cardiac muscle hypertrophy in response to stress GO:0014898 9.73 GATA6 MEF2C
32 cardiac muscle cell differentiation GO:0055007 9.73 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX5
33 cardiac right ventricle morphogenesis GO:0003215 9.72 GATA4 TBX20
34 cardiac septum development GO:0003279 9.72 CRELD1 TBX20
35 positive regulation of cell-cell adhesion GO:0022409 9.72 CITED2 NODAL
36 cardiac muscle tissue morphogenesis GO:0055008 9.72 NKX2-5 TBX20
37 adult heart development GO:0007512 9.71 BMP10 NKX2-5
38 embryonic viscerocranium morphogenesis GO:0048703 9.71 MEF2C TBX1
39 cardiac ventricle morphogenesis GO:0003208 9.71 GATA4 NKX2-5
40 pericardium development GO:0060039 9.71 NKX2-6 TBX5
41 secondary heart field specification GO:0003139 9.71 MEF2C MESP1
42 cardiac ventricle formation GO:0003211 9.71 MEF2C MESP1 NKX2-5
43 positive regulation of cardioblast differentiation GO:0051891 9.71 GATA4 GATA6 NKX2-5 TBX5
44 embryonic heart tube morphogenesis GO:0003143 9.7 MESP1 TBX20
45 positive regulation of male gonad development GO:2000020 9.7 CITED2 ZFPM2
46 vasculogenesis GO:0001570 9.7 NKX2-5 ZFPM2
47 nodal signaling pathway GO:0038092 9.69 CFC1 NODAL
48 transdifferentiation GO:0060290 9.69 GATA4 MEF2C
49 intestinal epithelial cell differentiation GO:0060575 9.68 GATA4 GATA6
50 blood vessel development GO:0001568 9.68 MEF2C TBX1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.88 CITED2 GATA4 GATA6 MEF2C NKX2-5
2 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.84 MEF2C MESP1 NKX2-5 TBX20
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.81 GATA4 GATA6 MEF2C TBX20
4 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.76 MEF2C MESP1 NKX2-5 TBX20
5 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001228 9.73 GATA4 GATA6 NKX2-5 TBX5
6 transcription factor binding GO:0008134 9.72 GATA4 GATA6 NKX2-5 TBX5 ZFPM2
7 sequence-specific DNA binding GO:0043565 9.7 GATA4 GATA6 MEF2C NKX2-5 NKX2-6 TBX1
8 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.67 GATA6 MEF2C NKX2-5
9 transcription regulatory region DNA binding GO:0044212 9.65 GATA4 GATA6 MEF2C MESP1 NKX2-5
10 transforming growth factor beta receptor binding GO:0005160 9.58 BMP10 GDF1 NODAL
11 RNA polymerase II transcription coactivator activity GO:0001105 9.54 CITED2 TBX20 ZFPM2
12 transcription factor activity, sequence-specific DNA binding GO:0003700 9.32 CITED2 GATA4 GATA6 MEF2C MESP1 NKX2-5
13 RNA polymerase II transcription factor binding GO:0001085 9.26 GATA4 GATA6 TBX20 ZFPM2
14 DNA binding GO:0003677 10.18 GATA4 GATA6 MEF2C MESP1 NKX2-5 TBX1

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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