MCID: HRT032
MIFTS: 80

Heart Disease

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Heart Disease

MalaCards integrated aliases for Heart Disease:

Name: Heart Disease 11 5 14 16
Heart Failure 53 5 41 63 16 71 75 31 33
Congenital Heart Disease 11 28 53 5 14 16 71
Heart Diseases 53 41 43 14 71
Congenital Heart Defects 11 41 2 63
Congenital Heart Defect 11 5
Congenital Anomaly of Heart 11
Disease, Heart, Congenital 38
Congenital Heart Disorder 75
Heart Defects, Congenital 43
Heart Disease, Congenital 38
Congestive Heart Failure 71
Heart Defects Congenital 53
Heart-Congenital Defect 11
Heart Malformation 11
Heart Defects 14
Heart Defect 11

Classifications:



External Ids:

Disease Ontology 11 DOID:114 DOID:1682
ICD9CM 34 429.9 746.9
NCIt 49 C3079 C34666
SNOMED-CT 68 194707003 268315002
UMLS 71 C0018798 C0018799 C0018801 more

Summaries for Heart Disease

MedlinePlus: 41 What is heart disease? Heart disease is a general term that includes many types of heart problems. It's also called cardiovascular disease, which means heart and blood vessel disease. Heart disease is the leading cause of death in the United States, but there are ways to prevent and manage many types of heart disease. What are the types of heart disease? There are many different types of heart disease. Some you may be born with, called congenital heart disease. Other types develop during your lifetime. Coronary artery disease (also called coronary heart disease) is the most common type of heart disease. It happens slowly over time when a sticky substance called plaque builds up in the arteries that supply your heart muscle with blood. The plaque narrows or blocks blood flow to the heart muscle and can lead to other heart problems: Angina - chest pain from lack of blood flow Heart attacks - when part of the heart muscle dies from loss of blood flow Heart failure - when your heart can't pump enough blood to meet your body's needs Arrhythmia - a problem with the rate or rhythm of your heartbeat Other types of heart diseases may affect your heart valves or heart muscle (cardiomyopathy). What causes heart diseases? The causes of heart disease depend on the type of disease. Some possible causes include lifestyle, genetics, infections, medicines, and other diseases. Who is more likely to develop heart diseases? There are many different factors that can make you more likely to develop heart disease. Some of these factors you can change, but others you cannot. Age. Your risk of heart disease goes up as you get older. Sex. Some factors may affect heart disease risk differently in women than in men. Family history and genetics. A family history of early heart disease raises your risk of heart disease. And research has shown that some genes are linked to a higher risk of certain heart diseases. Race/ethnicity. Certain groups have higher risks than others. Lifestyle habits. Over time, unhealthy lifestyle habits can raise your risk heart disease: Eating a diet high in saturated fats, refined carbohydrates, and salt. Not getting enough physical activity. Drinking too much alcohol. Smoking and exposure to secondhand smoke. Too much stress. Having other medical conditions can raise your risk of heart diseases. These conditions include: High blood pressure. High cholesterol levels. Diabetes. Obesity. Autoimmune and inflammatory diseases. Chronic kidney disease. Metabolic syndrome. What are the symptoms of heart disease? Your symptoms will depend on the type of heart disease you have. You may not have symptoms at first. In some cases, you may not know you have heart disease until you have a complication such as a heart attack. How are heart diseases diagnosed? To find out if you have heart disease, your health care provider will: Ask about your medical history, including your symptoms Ask about your family health history, including relatives who have had heart disease Do a physical exam Likely run heart tests and blood tests In some cases, your provider may refer you to a cardiologist (a doctor who specializes in heart diseases) for tests, diagnosis, and care. What are the treatments for heart disease? Treatment plans for heart disease depend on the type of heart disease you have, how serious your symptoms are, and what other health conditions you have. Possible treatments may include: Heart-healthy lifestyle changes Medicines Procedures or surgeries Cardiac rehabilitation Can heart diseases be prevented? You may be able to lower your risk of certain heart diseases by making heart-healthy lifestyle changes and managing any other medical conditions you have. NIH: National Heart, Lung, and Blood Institute

MalaCards based summary: Heart Disease, also known as heart failure, is related to lipoprotein quantitative trait locus and heart valve disease, and has symptoms including tremor, angina pectoris and chest pain. An important gene associated with Heart Disease is NKX2-5 (NK2 Homeobox 5), and among its related pathways/superpathways are Cardiac conduction and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Eprosartan and Fluticasone have been mentioned in the context of this disorder. Affiliated tissues include heart, bone marrow and kidney, and related phenotypes are muscle and embryo

CDC: 2 Congenital heart defects (CHDs) are conditions that are present at birth and can affect the structure of a baby's heart and the way it works. They are the most common type of birth defect. As medical care and treatment have advanced, infants with congenital heart defects are living longer and healthier lives. Many now are living into adulthood.

PubMed Health : 63 Congenital heart defects: Congenital (kon-JEN-ih-tal) heart defects are problems with the heart's structure that are present at birth. These defects can involve:

Disease Ontology: 11 A cardiovascular system disease that involves the heart.

Wikipedia 75 Congenital heart disorder: A congenital heart defect (CHD), also known as a congenital heart anomaly and congenital heart disease,... more...

Heart failure: Heart failure (HF), also known as congestive heart failure (CHF), is a syndrome, a group of signs and... more...

Related Diseases for Heart Disease

Diseases in the Heart Disease family:

Congenital Heart Defects, Multiple Types, 6 Congenital Heart Defects, Multiple Types, 3
Congenital Heart Defects, Multiple Types, 2 Congenital Heart Defects, Multiple Types, 4
Congenital Heart Defects, Multiple Types, 5 Congenital Heart Defects, Multiple Types, 7

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

(show top 50) (show all 3375)
# Related Disease Score Top Affiliating Genes
1 lipoprotein quantitative trait locus 33.4 TBX5 NKX2-5 MYH6 MIR210 MIR21 GATA4
2 heart valve disease 33.3 NKX2-5 MYH6 MIR21
3 hypoplastic left heart syndrome 32.9 TBX5 SMAD6 NODAL NKX2-5 MYH6 JAG1
4 aortic valve disease 1 32.9 TBX5 SMAD6 NKX2-5 MYH6 MIR21 JAG1
5 dilated cardiomyopathy 32.9 TBX5 NKX2-5 MYL2 MYH6 MIR21 MHRT
6 heart septal defect 32.9 TBX5 NODAL NKX2-5 MYH6 JAG1 GATA4
7 patent ductus arteriosus 1 32.9 TBX5 NODAL NKX2-5 MYH6 JAG1 GATA4
8 transposition of the great arteries, dextro-looped 32.9 TBX5 NODAL NKX2-5 GATA4
9 ventricular septal defect 32.8 TBX5 NODAL NKX2-5 MYH6 JAG1 GATA4
10 tetralogy of fallot 32.8 TBX5 NODAL NKX2-5 MYH6 JAG1 GATA4
11 double outlet right ventricle 32.7 TBX5 NKX2-5 NODAL MYH6 JAG1 GATA4
12 aortic valve disease 2 32.7 TBX5 SMAD6 NKX2-5 MYH6 MIR21 GATA4
13 atrial heart septal defect 32.7 TBX5 NODAL NKX2-5 MYH6 JAG1 GATA4
14 total anomalous pulmonary venous return 1 32.6 TBX5 NODAL NKX2-5 GATA4
15 noonan syndrome 1 32.6 TBX5 NKX2-5 MYH6 MAPK1 JAG1 GATA4
16 orthostatic intolerance 32.5 TBX5 NKX2-5 MYH6
17 wolff-parkinson-white syndrome 32.5 TBX5 NODAL NKX2-5 MYH6 MHRT JAG1
18 tricuspid atresia 32.5 TBX5 NKX2-5 GATA4
19 hypertrophic cardiomyopathy 32.4 TBX5 NKX2-5 MYL2 MYH6 MIR21 MHRT
20 interatrial communication 32.3 TBX5 NKX2-5
21 atrioventricular septal defect 32.3 TBX5 NODAL NKX2-5 MYH6 GATA4
22 atrioventricular block 32.3 TBX5 NKX2-5 MYH6 GATA4
23 physical disorder 32.2 TBX5 NKX2-5 MYH6 MIR21 GATA4
24 ebstein anomaly 32.2 TBX5 NODAL NKX2-5 MYH6 GATA4 CDK8
25 patent foramen ovale 32.2 TBX5 NKX2-5 MYH6 JAG1 GATA4
26 cardiomyopathy, familial hypertrophic, 1 32.2 NKX2-5 MYL2 MYH6 MHRT GATA4
27 jacobsen syndrome 32.1 TBX5 NKX2-5 GATA4
28 pulmonary valve stenosis 32.0 TBX5 NKX2-5 JAG1 GATA4
29 hypoplastic right heart syndrome 32.0 TBX5 NKX2-5
30 brugada syndrome 32.0 TBX5 NKX2-5 MYL2 MYH6 GATA4
31 third-degree atrioventricular block 32.0 TBX5 NKX2-5 MYH6
32 restrictive cardiomyopathy 32.0 MYL2 MYH6 MHRT
33 left ventricular noncompaction 31.8 TBX5 NKX2-5 MYL2 MYH6 JAG1 GATA4
34 tricuspid valve disease 31.8 TBX5 NKX2-5 MYH6 GATA4
35 chromosome 22q11.2 deletion syndrome, distal 31.8 TBX5 NKX2-5 MAPK1 GATA4
36 long qt syndrome 31.8 TBX5 NKX2-5 MYL2 MYH6 GATA4
37 pulmonary valve disease 31.6 TBX5 NKX2-5 GATA4
38 right atrial isomerism 31.6 TBX5 NODAL NKX2-5
39 familial atrial fibrillation 31.5 TBX5 NKX2-5 MYL2 MYH6 GATA4
40 orofaciodigital syndrome viii 31.4 TBX5 NKX2-5 GATA4
41 holt-oram syndrome 31.4 TBX5 NKX2-5 MYH6 GATA4
42 patau syndrome 31.4 TBX5 NODAL NKX2-5 GATA4
43 long qt syndrome 1 31.3 TBX5 NKX2-5 MYL2 MYH6
44 rasopathy 31.2 TBX5 NKX2-5 MYL2 MYH6 MAPK1 JAG1
45 aortic aneurysm, familial thoracic 1 31.2 TBX5 SMAD6 NKX2-5 MYH6 MIR21 JAG1
46 atrial septal defect 2 31.2 TBX5 NKX2-5 GATA4
47 diaphragmatic hernia, congenital 31.1 TBX5 GATA4 CDK8
48 velocardiofacial syndrome 31.0 TBX5 NKX2-5 GATA4
49 noonan syndrome with multiple lentigines 30.9 TBX5 NKX2-5 MYH6 GATA4
50 sinoatrial node disease 30.8 TBX5 NKX2-5 MYH6

Comorbidity relations with Heart Disease via Phenotypic Disease Network (PDN): (show top 50) (show all 313)


3-Hydroxyacyl-Coa Dehydrogenase Deficiency Accessory Nerve Disease
Acquired Polycythemia Acquired Thrombocytopenia
Active Peptic Ulcer Disease Acute Anterolateral Myocardial Infarction
Acute Apical Periodontitis Acute Conjunctivitis
Acute Cor Pulmonale Acute Cystitis
Acute Inferolateral Myocardial Infarction Acute Kidney Failure
Acute Maxillary Sinusitis Acute Myocardial Infarction
Acute Myocarditis Acute Pancreatitis
Acute Vascular Insufficiency of Intestine Adjustment Disorder
Age-Related Hearing Loss Alcoholic Cardiomyopathy
Alcoholic Liver Cirrhosis Allergic Urticaria
Alzheimer Disease, Familial, 1 Amyloidosis
Anemia, Autoimmune Hemolytic Anthracosis
Anxiety Aortic Aneurysm
Aortic Atherosclerosis Aortic Valve Disease 1
Aortic Valve Disease 2 Aortic Valve Insufficiency
Asbestosis Aspergillosis
Asthma Atrial Standstill 1
Atrioventricular Block Atrophic Gastritis
Bacteremia 2 Balanoposthitis
Basilar Artery Insufficiency Benign Essential Hypertension
Benign Hypertensive Renal Disease Benign Renovascular Hypertension
Bleeding Disorder, Platelet-Type, 11 Blepharitis
Blepharoconjunctivitis Bronchiectasis
Bronchitis Bronchopneumonia

Graphical network of the top 20 diseases related to Heart Disease:



Diseases related to Heart Disease

Symptoms & Phenotypes for Heart Disease

UMLS symptoms related to Heart Disease:


tremor; angina pectoris; chest pain; syncope; edema; equilibration disorder

MGI Mouse Phenotypes related to Heart Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.07 ABL1 GATA4 JAG1 MAPK1 MYH6 MYL2
2 embryo MP:0005380 10 ABL1 BRF1 CDK8 COL2A1 GATA4 JAG1
3 liver/biliary system MP:0005370 9.97 ABL1 BRF1 COL2A1 GATA4 JAG1 MAPK1
4 cardiovascular system MP:0005385 9.97 ABL1 ARF3 CDK8 COL2A1 GATA4 JAG1
5 no phenotypic analysis MP:0003012 9.95 GATA4 HOTAIR JAG1 MIR210 MIR320A NKX2-5
6 respiratory system MP:0005388 9.56 ABL1 COL2A1 GATA4 MAPK1 MYH6 MYL2
7 mortality/aging MP:0010768 9.5 ABL1 BRF1 CDK8 COL2A1 GATA4 JAG1

Drugs & Therapeutics for Heart Disease

PubMed Health treatment related to Heart Disease: 63

Although many children who have congenital heart defects don't need treatment , some do. Doctors repair congenital heart defects with catheter procedures or surgery . Sometimes doctors combine catheter and surgical procedures to repair complex heart defects, which may involve several kinds of defects. The treatment your child receives depends on the type and severity of his or her heart defect. Other factors include your child's age, size, and general health. Some children who have complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may need to take medicines for years.

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

(show top 50) (show all 936)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eprosartan Approved Phase 4 133040-01-4 5281037
2
Fluticasone Approved, Experimental Phase 4 90566-53-3 4659387 5311101
3
Ipratropium Approved, Experimental Phase 4 22254-24-6, 60205-81-4 657309 3746
4 Iron protein succinylate Approved, Investigational Phase 4 250705-13-6
5
Allopurinol Approved Phase 4 315-30-0 2094 135401907
6
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
7
Fosinopril Approved Phase 4 98048-97-6 55891 9601226
8
Spirapril Approved Phase 4 83647-97-6 5311447
9
Zofenopril Approved Phase 4 81872-10-8 12849515 92400
10
Cilazapril Approved Phase 4 88768-40-5, 92077-78-6 56330
11
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
12
Digoxin Approved Phase 4 20830-75-5 3062 2724385 30322
13
Hydrocortisone succinate Approved Phase 4 2203-97-6 3643
14
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
15
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 3640 5754
16
Testosterone Approved, Investigational Phase 4 58-22-0 5408 6013
17
Adenosine Approved, Investigational Phase 4 58-61-7 60961
18
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
19
Regadenoson Approved, Investigational Phase 4 313348-27-5 22451303 219024
20
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
21
Amlodipine Approved Phase 4 88150-42-9 2162
22
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
23
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
24
Pantoprazole Approved Phase 4 102625-70-7, 138786-67-1 4679
25
Cobalt Approved, Experimental, Withdrawn Phase 4 7440-48-4 104729
26
Tocopherol Approved, Investigational Phase 4 1406-66-2
27
Acetylcysteine Approved, Investigational Phase 4 616-91-1 581 12035
28
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
29
Trandolapril Approved Phase 4 87679-37-6 5484727
30
Pitavastatin Approved Phase 4 147511-69-1 5282452
31
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
32
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
33
Magnesium oxide Approved Phase 4 1309-48-4 14792
34
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
35
Methyltestosterone Approved Phase 4 58-18-4 6010
36
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0 21873174 65157
37
Testosterone enanthate Approved Phase 4 315-37-7 9416
38
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
39
Alogliptin Approved Phase 4 850649-61-5 11450633
40
Linagliptin Approved Phase 4 668270-12-0 57389748 10096344
41
Saxagliptin Approved Phase 4 361442-04-8 11243969
42
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
43
Nicotine Approved Phase 4 54-11-5 942 89594
44
Acarbose Approved, Investigational Phase 4 56180-94-0 441184 444254
45
Etomidate Approved Phase 4 33125-97-2 667484
46
Ledipasvir Approved Phase 4 1256388-51-8 67505836
47
Ranitidine Approved, Withdrawn Phase 4 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
48
Histamine Approved, Investigational Phase 4 51-45-6 774
49
BCG vaccine Approved, Investigational Phase 4
50
Famotidine Approved Phase 4 76824-35-6 3325 5702160

Interventional clinical trials:

(show top 50) (show all 8534)
# Name Status NCT ID Phase Drugs
1 The Effect of Ferric Carboximaltose on Intra-myocardial Iron Load Assessed by Cardiac Magnetic Resonance in Patients With Heart Failure With Reduced Ejection Fraction (HFREF). Unknown status NCT03871699 Phase 4 Ferric carboxymaltose
2 Oral dIuretics in Very Intensive Treatment, an Early Intervention in Outpatients With Heart Failure. DIVINE STUDY Unknown status NCT03709160 Phase 4 Bumetanide 1 MG
3 Diuretic and Natriuretic Effect of High-dose Spironolactone in Patients With Acute Heart Failure Unknown status NCT04618601 Phase 4 Spironolactone
4 Remission From Stage D Heart Failure (RESTAGE-HF) Unknown status NCT01774656 Phase 4 Pharmacological Treatment
5 Effectiveness of a Repetitive Use of 24-hour Levosimendan Infusions in Patients With Severe Systolic Heart Failure in Order to Prevent Rehospitalizations Unknown status NCT03764722 Phase 4 Levosimendan
6 Metformin in Patients With Chronic and Acute Heart Failure: Pharmacokinetics and Polymorphisms in Genes Encoding Membrane Metformin Transporter Proteins Unknown status NCT02797340 Phase 4 Metformin
7 Inspiratory Muscle Training for Dyspneic Patients With COPD-HF Overlap: a Multicenter, Randomized Controlled Trial Unknown status NCT02579200 Phase 4
8 Dapagliflozin And Pulmonary Artery Hemodynamics in Heart Failure With Reduced Ejection Fraction Patients With CardioMEMS® Unknown status NCT04570865 Phase 4 Dapagliflozin
9 Prospective, Randomized Comparison of Therapy With Verapamil or Carvedilol on Long-Term Outcomes of Patients With Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy Unknown status NCT00348530 Phase 4 Verapamil
10 Pharmacodynamic Effects of Sacubitril/Valsartan on Natriuretic Peptides, Angiotensin and Neprilysin. A Ringerike Heart Failure Cohort Phase IV Study of Angiotensin Receptor Neprilysin Inhibiton Unknown status NCT03553303 Phase 4 Sacubitril / Valsartan Oral Tablet
11 Beneficial Effects of Levothyroxine Supplementation in Patients With Systolic Heart Failure and Subclinical Hypothyroidism Unknown status NCT02316743 Phase 4 Levothyroxine supplementation
12 A Comparison of Hydrochlorothiazide and Metolazone in Combination With Furosemide in Congestive Heart Failure Patients Unknown status NCT00690521 Phase 4 metolazone or hydrochlorothiazide
13 Long-Term Oxygen Therapy (LTOT) in Chronic Obstructive Pulmonary Disease (COPD) Patients With Moderate Chronic Hypoxemia and Chronic Heart Failure (CHF) Unknown status NCT00668408 Phase 4
14 A Randomized, Double-blind, Multi-center Clinical Trial Prospectively Evaluating Iron Protein Succinylate Oral Solution in Treating Patients With Chronic Heart Failure and Iron Deficiency Unknown status NCT03344523 Phase 4 Iron protein succinylate oral solution
15 Prevention of Heart Failure Events With Impedance Cardiography Testing (PREVENT-HF) Unknown status NCT00409916 Phase 4
16 Comparing the Effects of Digoxin and Ivabradine on Mortality and Morbidity in Chronic Heart Failure With Reduced Ejection Fraction and Sinus Rhythm Unknown status NCT02046044 Phase 4 Digoxin;Ivabradine
17 Randomized-Controlled-Double Blind Trial of Low Dose Dobutamine in Advanced Heart Failure Patients in a Day-Care Clinic Unknown status NCT01930734 Phase 4 Dobutamine;Normal Saline
18 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4 Levosimendan in addition to standard therapy;spironolactone, beta-blockers,ecc
19 Prospective, Randomized Comparison of Therapy With Verapamil or Carvedilol on Long-Term Outcomes of Patients With Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy Unknown status NCT00374465 Phase 4 Verapamil;Carvedilol
20 Comparison of a Rhythm Control Treatment Strategy Versus a Rate Control Strategy in Patients With Permanent or Long-term Persistent Atrial Fibrillation and Heart Failure Treated With Cardiac Resynchronization Therapy - a Pilot Study Unknown status NCT01850277 Phase 4 Amiodarone;Pharmacotherapy to slow and control ventricular rate
21 Implementing Standards of Care for Heart Failure Patients in General Practice - A Regional Disease Management Program Unknown status NCT04334447 Phase 4
22 The Effect of Empagliflozin Versus Placebo on the Rate of Arrhythmic Events in Heart Failure Patients Unknown status NCT03271879 Phase 4 Empagliflozin at a dose of 10 mg/day
23 Evaluation of Sildenafil for the Treatment of Moderate Congestive Heart Failure Unknown status NCT00793338 Phase 4 Sildenafil
24 Randomized Open-label Comparative Study of Britomar (Prolonged Release Torasemide) and Diuver (Torasemide) to Assess Effects on Natriuresis and Central Hemodynamics in Patients With Arterial Hypertension and Chronic Heart Failure Unknown status NCT02087332 Phase 4 Prolonged release Torasemide (Britomar);Torasemide (Diuver)
25 The Impact of TORasemide oN hemodynAmic and Neurohormonal Stress, and carDiac remOdeling in Heart Failure - Prospective, Randomized, Open, Blinded Endpoint Trial Unknown status NCT01942109 Phase 4 Furosemide;Torasemide
26 N-3 Fatty Acids for the Prevention of Atrial Fibrillation in Patients With Acute Heart Failure Unknown status NCT00692718 Phase 4 Epadel, Eicosapentaenoic acid
27 Comparing Body Composition Measurements - Bioelectrical Impedance Analysis and Dual-energy X-ray Absorptiometry - in Chronic Heart Failure Unknown status NCT02686866 Phase 4
28 Hepato-renal Regulation of Water Conservation in Heart Failure Patients With SGLT-2 Inhibitor Treatment Unknown status NCT04080518 Phase 4 Dapagliflozin 10 MG [Forxiga]
29 Efficacy and Safety of Levothyroxine (L-T4) Replacement on Exercise Capability in Chronic Systolic Heart Failure Patients With Subclinical Hypothyroidism: A 24-week, Multi-center, Open Label, Randomized, Parallel Group Trial Unknown status NCT03096613 Phase 4 Levothyroxine
30 Effects of Thalidomide on Left Ventricular Morphology and Function in Patients With Congestive Heart Failure - The THUNDER Trial Unknown status NCT01640639 Phase 4 Thalidomide;Placebo
31 Inhaled Iloprost and Exercise Hemodynamics and Ventricular Performance in Heart Failure With Preserved Ejection Fraction - the ILO-HOPE Clinical Trial Unknown status NCT03620526 Phase 4 Iloprost;Placebo
32 A Multicenter, Randomized, Double-blind, Placebo-controlled Study of Qishenyiqi Drop Pills in Improving the Prognosis of Heart Failure Patients With Reduced Ejection Infarction Unknown status NCT04028544 Phase 4 Qishenyiqi dropping pills;Placebo
33 A Randomized, Prospective Multicenter Study to Determine the Incidence of Atrial Fibrillation and Heart Failure in Correlation to Stimulation Modes of Pacemakers Unknown status NCT00161551 Phase 4
34 Improvement in Clinical Outcomes of Patients With Chronic Heart Failure Using Serial NT-proBNP Monitoring: The EX-IMPROVE-CHF Study Unknown status NCT00601679 Phase 4
35 Double-blind Randomized Placebo-controlled Study to Evaluate the Efficacy and Safety of Intermittent, Long-term Administration of Levosimendan in Patients With Advanced Heart Failure Unknown status NCT00988806 Phase 4 Levosimendan;Placebo
36 Effect of Ivabradine on Heart Rate and Hemodynamics in Patients With Stage D Heart Failure (HF)/Cardiogenic Shock on Dobutamine Treatment Unknown status NCT03387605 Phase 4 Ivabradine;Placebo
37 Comparison of High-dose Furosemide Versus the Combination of Low-dose Furosemide and Low-dose Dopamine in Patients With Acute Decompensated Heart Failure Unknown status NCT00937092 Phase 4 Furosemide;low-dose dopamine + low-dose furosemide
38 Assessment of Clinical Effect and Treatment Quality of Rapid Release Carvedilol Versus SLOW Release Carvedilol-SR in HEART FAILURE Patient (SLOW-HF): A Prospective Randomized, Open-label, Multicenter Study Unknown status NCT03209180 Phase 4 CarVeDilol-SR (Slow Release);Carvedilol IR (Immediate Release)
39 Effect of Levosimendan or Placebo on Exercise Capacity and Hemodynamics in Patients With Advanced Chronic Heart Failure (LOCO-CHF Trial) Unknown status NCT03576677 Phase 4 Levosimendan;Placebo
40 A Randomized, Prospective Multicenter Pilot Study to Determine the Influence of the Ventricular Pacing Site on the Incidence of Atrial Fibrillation and Heart Failure in Patients With Indication for Permanent Pacemaker Stimulation Therapy. Unknown status NCT00292383 Phase 4
41 Shensong Yangxin Capsule in the Treatment of Mild to Moderate Systolic Heart Failure Complicated With Ventricular Premature Beat: A Randomize, Double Blind, Placebo-controlled Multicenter Clinical Trial Unknown status NCT01612260 Phase 4 Shensong Yangxin capsule;placebo Capsule
42 Effects of Atrial Rate-adaptive Pacing on Exercise Capacity in Patients With Chronic Heart Failure Complicated by Chronotropic Incompetence Unknown status NCT01016431 Phase 4
43 Effects of add-on Aliskiren Treatment on Central and Peripheral Hemodynamics and Biomarkers in Patients With Chronic Congestive Heart Failure (NYHA Class II-IV) (First Year Project) Unknown status NCT01040494 Phase 4 Aliskiren;Placebo
44 Carvedilol SR Study for Biomarkers From Blood and Urine and Safety of in Patients With Heart Failure With Preserved Ejection Fraction : a Prospective, Randomized, Double Blind, Placebo-controlled, Multicenter, Pilot Trial (CAYMUS-HFpEF) Unknown status NCT03948685 Phase 4 Carvedilol SR;Placebo
45 A Pilot Feasibility Study in Recovered Heart Failure Unknown status NCT02859311 Phase 4 Withdrawal of therapy
46 Rivaroxaban Once Daily Versus Dose-adjusted Vitamin K Antagonist on the Biomarkers in Acute Decompensated Heart Failure and Atrial Fibrillation (ROAD HF-AF) Unknown status NCT03490994 Phase 4 Rivaroxaban;Warfarin + LMWH
47 The Effect of Different Surgical Methods in the Treatment of Patients With Ischemic Mitral Regurgitation and Assess the Dynamics of Heart Failure and the Effectiveness of Surgical Treatment of Mitral Valve. Unknown status NCT01368575 Phase 4
48 Clinical Study of Lipoic Acid on Ischemic Heart Failure Unknown status NCT03491969 Phase 4 Alpha-Lipoic Acid(α-LA);Placebos
49 Significance of Regional Ventriculo-arterial Coupling in Patients With Chronic Heart Failure: Effects of Endothelial Progenitor Cells and a Direct Renin Inhibitor Unknown status NCT01156207 Phase 4 Aliskiren
50 Quadripolar Leads for the Management of Heart Failure Patients in the Middle East Unknown status NCT02195843 Phase 4

Search NIH Clinical Center for Heart Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Atenolol
benazepril
Benazepril hydrochloride
Bendroflumethiazide
benzthiazide
Bisoprolol
Bisoprolol Fumarate
Bumetanide
candesartan
candesartan cilexetil
Captopril
carvedilol
carvedilol phosphate
Chlorothiazide
Chlorothiazide sodium
Chlorthalidone
coenzyme Q10
cyclothiazide
Deslanoside
Digitalis preparation
DIGITALIS,POWDERED
Digitoxin
Digoxin
Enalapril
Enalapril Maleate
Enalaprilat
eprosartan
Eprosartan mesylate
esmolol
Esmolol hydrochloride
Ethacrynate Sodium
Ethacrynic Acid
Fenoldopam
Fenoldopam Mesylate
Fosinopril
Fosinopril Sodium
Furosemide
Growth Hormone
Hydralazine
Hydralazine Hydrochloride
Hydrochlorothiazide
Hydroflumethiazide
Inamrinone
inamrinone lactate
Indapamide
Isosorbide
Isosorbide Dinitrate
Isosorbide Mononitrate
Labetalol
Labetalol hydrochloride
Lisinopril
Losartan
Losartan Potassium
Methyclothiazide
Metolazone
Metoprolol
metoprolol succinate
Metoprolol Tartrate
Milrinone
Milrinone Lactate
moexipril
Moexipril hydrochloride
Nadolol
Nitroglycerin
olmesartan
Olmesartan medoxomil
Perindopril
Perindopril arginine
Perindopril Erbumine
Polythiazide
Propranolol
Propranolol Hydrochloride
quinapril
Quinapril hydrochloride
quinethazone
Ramipril
Sodium Nitroprusside
somatrem
Somatropin
SOMATROPIN (RECOMBINANT DNA ORIGIN)
Spironolactone
SPIRONOLACTONE PWDR
telmisartan
Timolol
Timolol Hemihydrate
Timolol Maleate
torsemide
trandolapril
Trichlormethiazide
valsartan

Cochrane evidence based reviews: heart diseases

Genetic Tests for Heart Disease

Genetic tests related to Heart Disease:

# Genetic test Affiliating Genes
1 Congenital Heart Disease 28

Anatomical Context for Heart Disease

Organs/tissues related to Heart Disease:

MalaCards : Heart, Bone Marrow, Kidney, Lung, Thyroid, Skeletal Muscle, Endothelial

Publications for Heart Disease

Articles related to Heart Disease:

(show top 50) (show all 61801)
# Title Authors PMID Year
1
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. 53 5
10587520 1999
2
Congenital heart disease caused by mutations in the transcription factor NKX2-5. 62 5
9651244 1998
3
Congenital Heart Defects Due to TAF1 Missense Variants. 5
32396742 2020
4
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. 5
30712880 2019
5
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. 5
30532227 2018
6
Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 5
29458881 2018
7
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 5
28288113 2017
8
Congenital heart diseases and their association with the variant distribution features on susceptibility genes. 5
27426723 2017
9
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. 5
27550220 2017
10
A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. 5
27055666 2016
11
Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. 5
25679214 2015
12
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. 5
22246659 2012
13
MicroRNA-210 as a novel therapy for treatment of ischemic heart disease. 62 46
20837903 2010
14
Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. 62 46
19514064 2009
15
Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 5
19064609 2009
16
A signature pattern of stress-responsive microRNAs that can evoke cardiac hypertrophy and heart failure. 62 46
17108080 2006
17
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. 5
15712272 2005
18
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. 5
12442286 2002
19
Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. 5
10220506 1999
20
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. 5
9207788 1997
21
Influenza vaccine to reduce adverse vascular events in patients with heart failure: a multinational randomised, double-blind, placebo-controlled trial. 41
36400089 2022
22
The Need for Breathing Training Techniques: The Elephant in the Heart Failure Cardiac Rehabilitation Room: A Randomized Controlled Trial. 41
36429418 2022
23
Endotrophin is a risk marker of complications in CANagliflozin cardioVascular Assessment Study (CANVAS): a randomized controlled trial. 41
36443792 2022
24
JCS 2022 Guideline on Management and Re-Interventional Therapy in Patients With Congenital Heart Disease Long-Term After Initial Repair. 41
36047167 2022
25
Effects of high-intensity statin combined with telmisartan versus amlodipine on glucose metabolism in hypertensive atherosclerotic cardiovascular disease patients with impaired fasting glucose: A randomized multicenter trial. 41
36086748 2022
26
Association of Direct-to-Consumer Advertising of Prescription Drugs With Consumer Health-Related Intentions and Beliefs Among Individuals at Risk of Cardiovascular Disease. 41
36200632 2022
27
Perioperative Metabolites Are Associated With Adverse Neonatal Congenital Heart Disease Surgical Outcomes. 41
35946448 2022
28
Efficacy and Safety of Minimally Invasive Transcatheter Closure of Congenital Heart Disease under the Guidance of Transesophageal Ultrasound: A Randomized Controlled Trial. 41
35872962 2022
29
A Nomogram for Predicting Cardiovascular Diseases in Chronic Obstructive Pulmonary Disease Patients. 41
36304748 2022
30
MicroRNA-494 targeting both proapoptotic and antiapoptotic proteins protects against ischemia/reperfusion-induced cardiac injury. 46
20837890 2010
31
Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. 53 62
20408814 2010
32
A Phase II, randomized, double-blind, multicenter, based on standard therapy, placebo-controlled study of the efficacy and safety of recombinant human neuregulin-1 in patients with chronic heart failure. 53 62
20430261 2010
33
Myostatin activation in patients with advanced heart failure and after mechanical unloading. 53 62
20348550 2010
34
The relationship between tumor necrosis factor-α, brain natriuretic peptide and atrial natriuretic peptide in patients with chronic heart failure. 53 62
19155075 2010
35
Meta-analysis of combined therapy with angiotensin receptor antagonists versus ACE inhibitors alone in patients with heart failure. 53 62
20376345 2010
36
Acute cardiovascular effects of apelin in humans: potential role in patients with chronic heart failure. 53 62
20385929 2010
37
Systematic review of the effect of aerobic and resistance exercise training on systemic brain natriuretic peptide (BNP) and N-terminal BNP expression in heart failure patients. 53 62
19664831 2010
38
Determinants of adiponectin levels in patients with chronic systolic heart failure. 53 62
20381668 2010
39
Relationship between high circulating adiponectin with bone mineral density and bone metabolism in elderly males with chronic heart failure. 53 62
20350696 2010
40
Cardiovascular and metabolic effects of 48-h glucagon-like peptide-1 infusion in compensated chronic patients with heart failure. 53 62
20081109 2010
41
Functional adiponectin resistance at the level of the skeletal muscle in mild to moderate chronic heart failure. 53 62
20103776 2010
42
[Novel GATA4 mutations identified in patients with congenital heart disease]. 53 62
20450724 2010
43
Adiponectin resistance in heart failure and the emerging pattern of metabolic failure in chronic heart failure. 53 62
20233990 2010
44
Usefulness of natriuretic Peptide levels to predict mortality in adults with congenital heart disease. 53 62
20211335 2010
45
Exercise training reduces circulating adiponectin levels in patients with chronic heart failure. 53 62
19656085 2010
46
NKX2.5 mutations in patients with non-syndromic congenital heart disease. 53 62
19073351 2010
47
Design and rationale of the PROTECT study: a placebo-controlled randomized study of the selective A1 adenosine receptor antagonist rolofylline for patients hospitalized with acute decompensated heart failure and volume overload to assess treatment effect on congestion and renal function. 53 62
20123315 2010
48
An alpha2C-adrenergic receptor polymorphism alters the norepinephrine-lowering effects and therapeutic response of the beta-blocker bucindolol in chronic heart failure. 53 62
19880803 2010
49
Endogenous erythropoietin and outcome in heart failure. 53 62
20048213 2010
50
Istaroxime, a first in class new chemical entity exhibiting SERCA-2 activation and Na-K-ATPase inhibition: a new promising treatment for acute heart failure syndromes? 53 62
19238540 2009

Variations for Heart Disease

ClinVar genetic disease variations for Heart Disease:

5 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF1 NM_004606.5(TAF1):c.2866G>C (p.Asp956His) SNV Association
219118 rs864321631 GRCh37: X:70612503-70612503
GRCh38: X:71392653-71392653
2 TAF1 NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) SNV Association
372844 rs1057518019 GRCh37: X:70612531-70612531
GRCh38: X:71392681-71392681
3 TAF1 NM_004606.5(TAF1):c.4394A>G (p.His1465Arg) SNV Association
419442 rs1064793874 GRCh37: X:70641168-70641168
GRCh38: X:71421318-71421318
4 TAF1 NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp) SNV Association
694243 rs1602489684 GRCh37: X:70603843-70603843
GRCh38: X:71383993-71383993
5 TAF1 NM_004606.5(TAF1):c.2120G>C (p.Arg707Pro) SNV Association
694244 rs1602490113 GRCh37: X:70603984-70603984
GRCh38: X:71384134-71384134
6 TAF1 NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys) SNV Association
694246 rs1602506017 GRCh37: X:70608626-70608626
GRCh38: X:71388776-71388776
7 TAF1 NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile) SNV Association
694247 rs1602520317 GRCh37: X:70612768-70612768
GRCh38: X:71392918-71392918
8 TAF1 NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) SNV Association
694250 rs748747814 GRCh37: X:70627446-70627446
GRCh38: X:71407596-71407596
9 TAF1 NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile) SNV Association
694251 rs1602572645 GRCh37: X:70627999-70627999
GRCh38: X:71408149-71408149
10 TAF1 NM_004606.5(TAF1):c.1A>T (p.Met1Leu) SNV Association
1184816 GRCh37: X:70586225-70586225
GRCh38: X:71366375-71366375
11 TAF1 NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn) SNV Association
1344721 GRCh37: X:70601686-70601686
GRCh38: X:71381836-71381836
12 TAF1 NM_004606.5(TAF1):c.2873C>T (p.Thr958Met) SNV Association
1344722 GRCh37: X:70612510-70612510
GRCh38: X:71392660-71392660
13 TAF1 NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg) SNV Association
1344723 GRCh37: X:70621387-70621387
GRCh38: X:71401537-71401537
14 TAF1 NM_004606.5(TAF1):c.4052T>C (p.Leu1351Pro) SNV Association
1344725 GRCh37: X:70626541-70626541
GRCh38: X:71406691-71406691
15 TAF1 NM_004606.5(TAF1):c.4295G>A (p.Arg1432His) SNV Association
1344726 GRCh37: X:70627912-70627912
GRCh38: X:71408062-71408062
16 TAF1 NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) SNV Association
219116 rs864321629 GRCh37: X:70618477-70618477
GRCh38: X:71398627-71398627
17 overlap with 25 genes DEL Pathogenic
549857 GRCh37: 2:219925666-220914504
GRCh38:
18 MYL2 NM_000432.4(MYL2):c.473T>C (p.Ile158Thr) SNV Pathogenic
1202626 GRCh37: 12:111348909-111348909
GRCh38: 12:110911105-110911105
19 COL2A1 NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) SNV Pathogenic
426404 rs1085307608 GRCh37: 12:48379594-48379594
GRCh38: 12:47985811-47985811
20 TBX5 NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) SNV Pathogenic
7995 rs104894382 GRCh37: 12:114823327-114823327
GRCh38: 12:114385522-114385522
21 overlap with 16 genes DEL Pathogenic
1684659 GRCh37:
GRCh38: 16:3619617-4448281
22 ARF3 NM_001659.3(ARF3):c.379A>G (p.Lys127Glu) SNV Pathogenic
1697213 GRCh37: 12:49333443-49333443
GRCh38: 12:48939660-48939660
23 overlap with 31 genes COMPLEX Pathogenic
1703575 GRCh37: 4:68345-1870548
GRCh38:
24 ABL1 NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys) SNV Pathogenic
374795 rs1060499547 GRCh37: 9:133738277-133738277
GRCh38: 9:130862890-130862890
25 JAG1 NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) MICROSAT Pathogenic
177941 rs727504412 GRCh37: 20:10625893-10625896
GRCh38: 20:10645245-10645248
26 MYL2 NM_000432.4(MYL2):c.436G>A (p.Val146Met) SNV Pathogenic
520474 rs370075755 GRCh37: 12:111348946-111348946
GRCh38: 12:110911142-110911142
27 MYH6 NM_002471.4(MYH6):c.1410+1G>A SNV Pathogenic
561059 rs1566513862 GRCh37: 14:23869917-23869917
GRCh38: 14:23400708-23400708
28 SMAD6 NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter) SNV Pathogenic
1174579 GRCh37: 15:67073667-67073667
GRCh38: 15:66781329-66781329
29 SMAD6 NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter) SNV Pathogenic
1174549 GRCh37: 15:67073394-67073394
GRCh38: 15:66781056-66781056
30 GATA4 NM_001308093.3(GATA4):c.1000+56C>A SNV Pathogenic
139596 rs804280 GRCh37: 8:11612698-11612698
GRCh38: 8:11755189-11755189
31 CDK8 NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) SNV Pathogenic
631491 rs1565977796 GRCh37: 13:26911760-26911760
GRCh38: 13:26337623-26337623
32 BRF1 NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) SNV Pathogenic
867234 rs1343140353 GRCh37: 14:105707642-105707642
GRCh38: 14:105241305-105241305
33 NODAL NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) SNV Pathogenic
978646 rs781366461 GRCh37: 10:72195110-72195110
GRCh38: 10:70435354-70435354
34 MAPK1 NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) SNV Pathogenic
917744 rs2069052012 GRCh37: 22:22153389-22153389
GRCh38: 22:21799100-21799100
35 MAPK1 NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) SNV Pathogenic
917745 rs2068716940 GRCh37: 22:22127176-22127176
GRCh38: 22:21772887-21772887
36 MAPK1 NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) SNV Pathogenic
917746 rs2068716907 GRCh37: 22:22127175-22127175
GRCh38: 22:21772886-21772886
37 MAPK1 NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg) SNV Pathogenic
917749 rs2068678455 GRCh37: 22:22123608-22123608
GRCh38: 22:21769319-21769319
38 NKX2-5 NM_004387.4(NKX2-5):c.335-1G>T SNV Pathogenic
219165 rs864321645 GRCh37: 5:172660213-172660213
GRCh38: 5:173233210-173233210
39 GATA4 NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp) SNV Pathogenic
219226 rs864321698 GRCh37: 8:11565844-11565844
GRCh38: 8:11708335-11708335
40 GATA4 NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys) SNV Pathogenic
219229 rs864321701 GRCh37: 8:11566218-11566218
GRCh38: 8:11708709-11708709
41 GATA4 NM_001308093.3(GATA4):c.1266C>T (p.Ser422=) SNV Pathogenic
219232 rs864321704 GRCh37: 8:11615918-11615918
GRCh38: 8:11758409-11758409
42 GATA4 NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg) SNV Pathogenic
219230 rs864321702 GRCh37: 8:11606493-11606493
GRCh38: 8:11748984-11748984
43 GATA4 NM_001308093.3(GATA4):c.1000+2T>G SNV Pathogenic
219233 rs864321705 GRCh37: 8:11612644-11612644
GRCh38: 8:11755135-11755135
44 GATA4 NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) SNV Pathogenic
219227 rs864321699 GRCh37: 8:11565846-11565846
GRCh38: 8:11708337-11708337
45 GATA4 NM_001308093.3(GATA4):c.383A>T (p.Glu128Val) SNV Pathogenic
219228 rs864321700 GRCh37: 8:11566204-11566204
GRCh38: 8:11708695-11708695
46 GATA4 NM_001308093.3(GATA4):c.27C>A (p.Ala9=) SNV Pathogenic
219231 rs864321703 GRCh37: 8:11565848-11565848
GRCh38: 8:11708339-11708339
47 ABL1 NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr) SNV Pathogenic
374794 rs1060499548 GRCh37: 9:133748348-133748348
GRCh38: 9:130872961-130872961
48 NKX2-5 NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) SNV Pathogenic
219168 rs864321648 GRCh37: 5:172660156-172660156
GRCh38: 5:173233153-173233153
49 NKX2-5 NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) SNV Pathogenic
219169 rs864321649 GRCh37: 5:172660104-172660104
GRCh38: 5:173233101-173233101
50 NKX2-5 NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) SNV Pathogenic
219170 rs864321650 GRCh37: 5:172661905-172661905
GRCh38: 5:173234902-173234902

Copy number variations for Heart Disease from CNVD:

6 (show top 50) (show all 63)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 17306 1 142400000 148000000 Duplication Heart disease
2 17316 1 142400000 148000000 Microdeletion Congenital heart defect
3 17332 1 142400000 148000000 Rearrangements Congenital heart defect
4 18950 1 148000000 149600000 Copy number Congenital heart defect
5 38769 10 104900000 105700000 Duplication CALHM1 Heart disease
6 38770 10 104900000 105700000 Duplication CALHM2 Heart disease
7 38771 10 104900000 105700000 Duplication PDCD11 Heart disease
8 40012 10 123100000 135374737 Deletion Heart disease
9 44160 10 52900000 70600000 Copy number TFAM Heart failure
10 44161 10 52900000 70600000 Copy number TFAM Heart failure
11 50206 11 115400000 134452384 Duplication Heart disease
12 65746 12 21200000 26300000 Deletion SLCO1A2 Heart disease
13 70609 12 63400000 66000000 Duplication Heart disease
14 81035 14 100400000 106368585 Deletion Congenital heart defect
15 83025 14 19100000 23600000 Duplication Heart disease
16 84174 14 23851199 23877482 Amplificationlication MYH6 Congenital heart defects
17 86222 14 55800000 61200000 Duplication Heart disease
18 87066 14 69300000 72900000 Duplication Heart disease
19 92217 8 104452961 104464393 Duplication CTHRC1 Congenital heart defect
20 97907 16 14700000 16700000 Duplication or deletion Congenital heart defects
21 106854 17 1 3600000 Duplication Heart disease
22 108227 17 19227347 19231086 Duplication MFAP4 Congenital heart defect
23 115120 17 54900000 58400000 Microdeletion TBX2 Heart disease
24 115122 17 54900000 58400000 Microdeletion TBX4 Heart disease
25 119183 18 1 2900000 Duplication Heart disease
26 119195 18 1 7200000 Duplication Heart disease
27 120625 18 2900000 17300000 Duplication Heart disease
28 131218 19 53800000 59100000 Duplication Heart disease
29 155473 20 55900000 57900000 Duplication Heart disease
30 159146 21 40466951 40489050 Loss DSCAM Congenital heart defects
31 159325 21 41568947 41572987 Loss BACE2 Congenital heart defects
32 159387 21 42123984 42136309 Loss PRDM15 Congenital heart defects
33 159403 21 42223189 42226495 Loss C2CD2 Congenital heart defects
34 159959 21 46367207 46399800 Gain COL6A2 Congenital heart defects
35 160218 22 11800000 24300000 Deletion Congenital heart defect
36 160262 22 11800000 24300000 Microdeletion Congenital heart defect
37 160288 22 11800000 49691432 Duplication Congenital heart defect
38 160785 22 16300000 24300000 Deletion Congenital heart defect
39 160789 22 16300000 24300000 Deletion Heart disease
40 160812 22 16300000 24300000 Deletion TBX1 Congenital heart defect
41 160832 22 16300000 24300000 Microdeletion Congenital heart defect
42 160833 22 16300000 24300000 Microdeletion Congenital heart defect
43 213399 6 45200000 51100000 Duplication RUNX2 Heart disease
44 213400 6 45200000 51100000 Duplication SUPT3H Heart disease
45 213401 6 45200000 51100000 Duplication TNFRSF21 Heart disease
46 221295 7 142800000 147500000 Duplication TPK1 Heart disease
47 221880 7 147500000 152200000 Deletion GALNT11 Heart disease
48 222426 7 15200000 19500000 Deletion AGMO Heart disease
49 222427 7 15200000 19500000 Duplication PRPS1L1 Heart disease
50 223375 7 19500000 24900000 Duplication RAPGEF5 Heart disease

Expression for Heart Disease

Search GEO for disease gene expression data for Heart Disease.

Pathways for Heart Disease



Pathways directly related to Heart Disease:

# Pathway Source
1 Defective B3GAT3 causes JDSSDHD Reactome 66

Pathways related to Heart Disease according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 TBX5 NKX2-5 MYL2 MYH6 GATA4
2
Show member pathways
12.37 MYL2 MYH6 MAPK1 COL2A1
3
Show member pathways
12.27 TBX5 NKX2-5 MYL2 GATA4
4 11.79 TBX5 NODAL NKX2-5 GATA4
5 11.6 TBX5 NKX2-5 GATA4 COL2A1
6 11.53 MYH6 MAPK1 ABL1
7 11.46 MIR210 MIR21 ABL1
8
Show member pathways
11.39 SMAD6 MAPK1 ABL1
9 10.93 TBX5 NKX2-5 MAPK1 GATA4
10 10.82 TBX5 NODAL NKX2-5 MYL2 MYH6 GATA4
11 10.78 NKX2-5 MYL2 GATA4
12 10.68 JAG1 CDK8
13 10.51 TBX5 NKX2-5 GATA4
14 10.18 GATA4 NKX2-5

GO Terms for Heart Disease

Biological processes related to Heart Disease according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heart looping GO:0001947 10.07 NODAL NKX2-5 GATA4
2 negative regulation of cell migration GO:0030336 10.05 TBX5 MIR320A MIR21 JAG1
3 positive regulation of angiogenesis GO:0045766 10.04 GATA4 MIR21 MIR210 NODAL
4 cardiac muscle contraction GO:0060048 10.02 NKX2-5 MYL2 MYH6
5 negative regulation of BMP signaling pathway GO:0030514 10 SMAD6 MIR210 ABL1
6 BMP signaling pathway GO:0030509 9.98 SMAD6 NODAL MIR21 ABL1
7 ventricular septum development GO:0003281 9.95 GATA4 SMAD6 TBX5
8 endocardial cushion development GO:0003197 9.91 TBX5 GATA4
9 cardiac muscle cell proliferation GO:0060038 9.88 TBX5 NKX2-5 ABL1
10 atrioventricular node development GO:0003162 9.86 NKX2-5 GATA4
11 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.85 NKX2-5 MIR21 GATA4
12 inhibition of neuroepithelial cell differentiation GO:0002085 9.83 NODAL JAG1
13 atrioventricular node cell development GO:0060928 9.81 TBX5 NKX2-5
14 bundle of His development GO:0003166 9.8 TBX5 NKX2-5
15 cardiac ventricle morphogenesis GO:0003208 9.76 NKX2-5 GATA4
16 heart development GO:0007507 9.76 TBX5 NODAL NKX2-5 MYL2 MAPK1 GATA4
17 atrial septum morphogenesis GO:0060413 9.73 TBX5 NKX2-5 GATA4
18 cardiac muscle cell differentiation GO:0055007 9.67 TBX5 NKX2-5 GATA4
19 atrioventricular node cell fate commitment GO:0060929 9.62 NKX2-5 TBX5
20 aortic valve morphogenesis GO:0003180 9.56 SMAD6 NKX2-5 JAG1 GATA4
21 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.54 MIR210 MIR21
22 positive regulation of cardioblast differentiation GO:0051891 9.1 TBX5 NKX2-5 GATA4

Molecular functions related to Heart Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type I activin receptor binding GO:0070698 8.92 SMAD6 NODAL

Sources for Heart Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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