Heart Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HRT032 MIFTS: 80	Heart Disease Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Other congenital malformations of heart

Congenital malformation of heart, unspecified

Diseases of the circulatory system

Other forms of heart disease

Complications and ill-defined descriptions of heart disease

Heart disease, unspecified

Heart failure

Heart failure, unspecified

ICD11: ³³

Diseases of the circulatory system

Heart failure

Heart failure, unspecified

Other specified heart failure

External Ids:

Disease Ontology ¹¹ DOID:114 DOID:1682

ICD9CM ³⁴ 429.9 746.9

MeSH ⁴³ D006330 D006331

NCIt ⁴⁹ C3079 C34666

SNOMED-CT ⁶⁸ 194707003 268315002

ICD10 ³¹ I50 I50.9 I51.9 more

EFO ¹⁶ EFO_0003144 EFO_0003777 EFO_0005207

ICD11 ³³ 1458683894 1458683894/other 1458683894/unspecified

UMLS ⁷¹ C0018798 C0018799 C0018801 more

Sources

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...

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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:

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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

Sources

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

Eprosartan

Approved

Phase 4

133040-01-4

5281037

Fluticasone

Approved, Experimental

Phase 4

90566-53-3

4659387 5311101

Ipratropium

Approved, Experimental

Phase 4

22254-24-6, 60205-81-4

657309 3746

Iron protein succinylate

Approved, Investigational

Phase 4

250705-13-6

Allopurinol

Approved

Phase 4

315-30-0

2094 135401907

Thalidomide

Approved, Investigational, Withdrawn

Phase 4

50-35-1

5426

Fosinopril

Approved

Phase 4

98048-97-6

55891 9601226

Spirapril

Approved

Phase 4

83647-97-6

5311447

Zofenopril

Approved

Phase 4

81872-10-8

12849515 92400

Cilazapril

Approved

Phase 4

88768-40-5, 92077-78-6

56330

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Digoxin

Approved

Phase 4

20830-75-5

3062 2724385 30322

Hydrocortisone succinate

Approved

Phase 4

2203-97-6

3643

Hydrocortisone acetate

Approved, Vet_approved

Phase 4

50-03-3

Hydrocortisone

Approved, Vet_approved

Phase 4

50-23-7

3640 5754

Testosterone

Approved, Investigational

Phase 4

58-22-0

5408 6013

Adenosine

Approved, Investigational

Phase 4

58-61-7

60961

Nicotinamide

Approved, Investigational

Phase 4

98-92-0

936

Regadenoson

Approved, Investigational

Phase 4

313348-27-5

22451303 219024

Nitroglycerin

Approved, Investigational

Phase 4

55-63-0

4510

Amlodipine

Approved

Phase 4

88150-42-9

2162

Lisinopril

Approved, Investigational

Phase 4

83915-83-7, 76547-98-3

5362119

Verapamil

Approved

Phase 4

152-11-4, 52-53-9

2520

Pantoprazole

Approved

Phase 4

102625-70-7, 138786-67-1

4679

Cobalt

Approved, Experimental, Withdrawn

Phase 4

7440-48-4

104729

Tocopherol

Approved, Investigational

Phase 4

1406-66-2

Acetylcysteine

Approved, Investigational

Phase 4

616-91-1

581 12035

Pioglitazone

Approved, Investigational

Phase 4

111025-46-8

4829

Trandolapril

Approved

Phase 4

87679-37-6

5484727

Pitavastatin

Approved

Phase 4

147511-69-1

5282452

Clonidine

Approved

Phase 4

4205-91-8, 4205-90-7

2803 20179

Diltiazem

Approved, Investigational

Phase 4

42399-41-7

39186

Magnesium oxide

Approved

Phase 4

1309-48-4

14792

Warfarin

Approved

Phase 4

81-81-2, 129-06-6

54678486

Methyltestosterone

Approved

Phase 4

58-18-4

6010

Testosterone undecanoate

Approved, Investigational

Phase 4

5949-44-0

21873174 65157

Testosterone enanthate

Approved

Phase 4

315-37-7

9416

Vildagliptin

Approved, Investigational

Phase 4

274901-16-5

6918537

Alogliptin

Approved

Phase 4

850649-61-5

11450633

Linagliptin

Approved

Phase 4

668270-12-0

57389748 10096344

Saxagliptin

Approved

Phase 4

361442-04-8

11243969

Cilostazol

Approved, Investigational

Phase 4

73963-72-1

2754

Nicotine

Approved

Phase 4

54-11-5

942 89594

Acarbose

Approved, Investigational

Phase 4

56180-94-0

441184 444254

Etomidate

Approved

Phase 4

33125-97-2

667484

Ledipasvir

Approved

Phase 4

1256388-51-8

67505836

Ranitidine

Approved, Withdrawn

Phase 4

66357-59-3, 82530-72-1, 66357-35-5

3001055 5039

Histamine

Approved, Investigational

Phase 4

51-45-6

774

BCG vaccine

Approved, Investigational

Phase 4

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

Sources

Genetic Tests for Heart Disease

Genetic tests related to Heart Disease:

#	Genetic test	Affiliating Genes
1	Congenital Heart Disease ²⁸

Sources

Anatomical Context for Heart Disease

Organs/tissues related to Heart Disease:

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

Sources

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	Benson DW...Kugler JD	10587520	1999
2	Congenital heart disease caused by mutations in the transcription factor NKX2-5. ⁶² ⁵	Schott JJ...Seidman JG	9651244	1998
3	Congenital Heart Defects Due to TAF1 Missense Variants. ⁵	Morton SU...Agrawal PB	32396742	2020
4	Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. ⁵	Lord J...Prenatal Assessment of Genomes and Exomes Consortium	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	Qi H...Shen Y	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	Chen CP...Wang W	29458881	2018
7	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. ⁵	Wang X...Yang Y	28288113	2017
8	Congenital heart diseases and their association with the variant distribution features on susceptibility genes. ⁵	Su W...Dong N	27426723	2017
9	Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. ⁵	Scott DA...Xia F	27550220	2017
10	A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. ⁵	Shaheen R...Alkuraya FS	27055666	2016
11	Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes. ⁵	Niranjan TS...Wang T	25679214	2015
12	Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2. ⁵	Tompson SW...Cohn DH	22246659	2012
13	MicroRNA-210 as a novel therapy for treatment of ischemic heart disease. ⁶² ⁴⁶	Hu S...Wu JC	20837903	2010
14	Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population. ⁶² ⁴⁶	Xu J...Chen Y	19514064	2009
15	Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. ⁵	Mohapatra B...Ware SM	19064609	2009
16	A signature pattern of stress-responsive microRNAs that can evoke cardiac hypertrophy and heart failure. ⁶² ⁴⁶	van Rooij E...Olson EN	17108080	2006
17	Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients. ⁵	Jurkiewicz D...Krajewska-Walasek M	15712272	2005
18	DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients. ⁵	Heritage ML...Anderson GJ	12442286	2002
19	Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. ⁵	Crosnier C...Meunier-Rotival M	10220506	1999
20	Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. ⁵	Li L...Spinner NB	9207788	1997
21	Influenza vaccine to reduce adverse vascular events in patients with heart failure: a multinational randomised, double-blind, placebo-controlled trial. ⁴¹	Loeb M...Influenza Vaccine to Prevent Adverse Vascular Events investigators	36400089	2022
22	The Need for Breathing Training Techniques: The Elephant in the Heart Failure Cardiac Rehabilitation Room: A Randomized Controlled Trial. ⁴¹	Farghaly A...Atef H	36429418	2022
23	Endotrophin is a risk marker of complications in CANagliflozin cardioVascular Assessment Study (CANVAS): a randomized controlled trial. ⁴¹	Rasmussen DGK...Genovese F	36443792	2022
24	JCS 2022 Guideline on Management and Re-Interventional Therapy in Patients With Congenital Heart Disease Long-Term After Initial Repair. ⁴¹	Ohuchi H...Japanese Circulation Society Joint Working Group	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	Lee CJ...Kim BK	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	Eisenberg MD...Sood N	36200632	2022
27	Perioperative Metabolites Are Associated With Adverse Neonatal Congenital Heart Disease Surgical Outcomes. ⁴¹	Heibel J...Everett AD	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	Zhang S...Jin P	35872962	2022
29	A Nomogram for Predicting Cardiovascular Diseases in Chronic Obstructive Pulmonary Disease Patients. ⁴¹	Qu S...Zhu J	36304748	2022
30	MicroRNA-494 targeting both proapoptotic and antiapoptotic proteins protects against ischemia/reperfusion-induced cardiac injury. ⁴⁶	Wang X...Fan GC	20837890	2010
31	Common RyR2 variants associate with ventricular arrhythmias and sudden cardiac death in chronic heart failure. ⁵³ ⁶²	Ran Y...Pu J	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	Gao R...Zhou M	20430261	2010
33	Myostatin activation in patients with advanced heart failure and after mechanical unloading. ⁵³ ⁶²	George I...Maybaum S	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	Vaz Perez A...Rauchhaus M	19155075	2010
35	Meta-analysis of combined therapy with angiotensin receptor antagonists versus ACE inhibitors alone in patients with heart failure. ⁵³ ⁶²	Kuenzli A...Nordmann AJ	20376345	2010
36	Acute cardiovascular effects of apelin in humans: potential role in patients with chronic heart failure. ⁵³ ⁶²	Japp AG...Newby DE	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	Smart NA...Steele M	19664831	2010
38	Determinants of adiponectin levels in patients with chronic systolic heart failure. ⁵³ ⁶²	Biolo A...Sam F	20381668	2010
39	Relationship between high circulating adiponectin with bone mineral density and bone metabolism in elderly males with chronic heart failure. ⁵³ ⁶²	Bozic B...Popovic-Brkic V	20350696	2010
40	Cardiovascular and metabolic effects of 48-h glucagon-like peptide-1 infusion in compensated chronic patients with heart failure. ⁵³ ⁶²	Halbirk M...Wiggers H	20081109	2010
41	Functional adiponectin resistance at the level of the skeletal muscle in mild to moderate chronic heart failure. ⁵³ ⁶²	Van Berendoncks AM...Conraads VM	20103776	2010
42	[Novel GATA4 mutations identified in patients with congenital heart disease]. ⁵³ ⁶²	Wang J...Xu WJ	20450724	2010
43	Adiponectin resistance in heart failure and the emerging pattern of metabolic failure in chronic heart failure. ⁵³ ⁶²	Springer J...Doehner W	20233990	2010
44	Usefulness of natriuretic Peptide levels to predict mortality in adults with congenital heart disease. ⁵³ ⁶²	Giannakoulas G...Gatzoulis MA	20211335	2010
45	Exercise training reduces circulating adiponectin levels in patients with chronic heart failure. ⁵³ ⁶²	Van Berendoncks AM...Conraads VM	19656085	2010
46	NKX2.5 mutations in patients with non-syndromic congenital heart disease. ⁵³ ⁶²	Gioli-Pereira L...Krieger JE	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	Weatherley BD...PROTECT Steering Committee, Investigators, and Coordinators	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	Bristow MR...Liggett SB	19880803	2010
49	Endogenous erythropoietin and outcome in heart failure. ⁵³ ⁶²	Belonje AM...van Veldhuisen DJ	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	Khan H...Gheorghiade M	19238540	2009

Sources

Genes for Heart Disease

Genes related to Heart Disease (17 elite genes):

(show top 50) (show all 434)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NKX2-5	NK2 Homeobox 5	Protein Coding	487.09	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10587520 9651244 12824294 (more) 12173684 17891434 19073351 17685485 16245335 15958514 15161646 15364612 15368343 17668378 19595143 16138909 19302747 19933292 15109497 17350578 10096597 19074289
2	TBX5	T-Box Transcription Factor 5	Protein Coding	471.68	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18706711 12173684 15639924 (more) 15096952 19586889 17668378 15221798 16183809 12436037 19187613 10096597 16258075 10373308 12736217 15923624 16380715 19648116 12499378 12845333 14519429 16134140 15095414 19925885 16917909
3	MYH6	Myosin Heavy Chain 6	Protein Coding	469.92	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	8240229 10199887 15367688 (more) 19854200 18022084 12754214 17070539 9410916 17294740 18805276 12933792
4	GATA4	GATA Binding Protein 4	Protein Coding	458.27	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	27426723 19494035 17053787 (more) 17643447 15012912 11228750 17284439 19578715 10096597 17592645 18672102 15249177 17668378 20450724 19302747 18055909 19933292 17253934 12775767 17352393 16604480 16077733 18305343 12845333 19008335 18393291 20167067
5	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	423.97	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	10220506 9207788 15712272 (more) 12442286 18245384 10213047
6	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	417.61	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
7	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	416.17	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)	28288113
8	MYL2	Myosin Light Chain 2	Protein Coding	414.41	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
9	NODAL	Nodal Growth Differentiation Factor	Protein Coding	412.51	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	19064609
10	SMAD6	SMAD Family Member 6	Protein Coding	411.88	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
11	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	410.12	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
12	CDK8	Cyclin Dependent Kinase 8	Protein Coding	409.13	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
13	ARF3	ADP Ribosylation Factor 3	Protein Coding	407.87	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
14	BRF1	BRF1 RNA Polymerase III Transcription Initiation Factor Subunit	Protein Coding	402.79	Pathogenic ⁵ DISEASES inferred ¹⁴
15	MIR21	MicroRNA 21	RNA Gene	370.63	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ ¹⁴ ¹⁴	19043405
16	MIR210	MicroRNA 210	RNA Gene	364.2	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ ¹⁴	20837903
17	MIR320A	MicroRNA 320a	RNA Gene	358.22	Causal ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	19380620
18	MHRT	Myosin Heavy Chain Associated RNA Transcript	RNA Gene	160.47	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ ¹⁴	28296001
19	MT-LIPCAR	Mitochondrially Encoded Long Non-Coding Cardiac Associated RNA	Uncategorized	159.44	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴ ¹⁴	24663402
20	HOTAIR	HOX Transcript Antisense RNA	RNA Gene	158.89	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ ¹⁴	24788418
21	PPP1R1B	Protein Phosphatase 1 Regulatory Inhibitor Subunit 1B	Protein Coding	157.38	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ ¹⁴	27591185
22	H19	H19 Imprinted Maternally Expressed Transcript	RNA Gene	156.98	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴ ¹⁴	27035723 27895893
23	BACE1-AS	BACE1 Antisense RNA	RNA Gene	153.85	Experimental evidence: Regulation ³⁷ DISEASES inferred ¹⁴	28158647
24	NRON	Non-Coding Repressor Of NFAT	RNA Gene	153.63	Experimental evidence: Expression ³⁷ DISEASES inferred ¹⁴	28296001
25	FAM230H	Family With Sequence Similarity 230 Member H	RNA Gene	150	Experimental evidence: Regulation ³⁷	27035723
26	MIR195	MicroRNA 195	RNA Gene	67.16	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	17108080
27	MIR214	MicroRNA 214	RNA Gene	66.61	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)	17108080
28	MIR23A	MicroRNA 23a	RNA Gene	64.02	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴ ¹⁴	17108080
29	NPPB	Natriuretic Peptide B	Protein Coding	59.13	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17373960 18305981 14605532 (more) 17513188 17900714 11796549 15124836 8292884 19562575 19462798 17691447 17479706 16753233 15833183 12892964 14987575 16117728 18476995 8221809 10710270 16467354 19454040 17404702 14735252 19444132 17229370 17599451 15695131 20211335 19143963 15173030 19558803 11410557 18222277 17694799 16998066 20113626 16810169 19339274 17426794 16801175 16802738 16430880 16936915 15695153 19636481 18230356 16082547 17676372 16563914 11476749 9778544 16360967 12015190 16014188 16043943 11446498 19359811 8403535 14967157 19740358 15123522 15948106 19158604 11329541 9366809 8425293 17308404 15197420 15147331 10817394 18971547 17300987 16765125 15761636 15999470 12411979 15118292 16873293 16777247 17967418 12007084 15478324 15389242 12417808 11928764 11410555 11282090 19158216 18362428 9791037 12498156 12372945 8952587 18073483 17399822 17585100 16323069 14586510 1610367 20024643 19497572 19789399 18632852 16338263 15883225 12921809 12392300 11999635 11465231 17943021 17941191 16715186 17312822 16339811 16014186 15385748 10328668 19556815 18372580 17323015 17551307 17014518 15624097 15521481 17345160 17100670 15886060 16191182 16169375 15981680 15469852 15246247 17978918 15955223 15846276 15648959 11359018 16800370 16601459 19167912 11558682 18524723 17044575 15912436 17384013 12949034 14967727 9591213 17053156 14960630 12501021 15755257 15006584 14587653 15774989 19119256 17168346 16893709 17474496 12417542 10379945 10967571 16679261 15332214 14564225 9989964 19081403 17339002 15846278 15477431 12628948 19080974 17316335 18513509 19553828 18158473 18074722 17105668 17503563 17349887 15827538 15921792 14769750 18294114 17920926 17032344 16130189 15175210 16618022 15345664 14522565 19664831 12167387 15095695 16899344 8922918 11300609 15819505 12701987 12665499 11738297 17874709 15899365 14987588 14987579 12605591 19121444 18620103 17134622 16618023 15840219 17027335 16777915 16480468 15261178 19808301 17438403 9134374 18795589 15948098 15781024 11897211 9137299 8640980 14574060 18089293 18983287 17217682 17372040 17039908
30	MIR494	MicroRNA 494	RNA Gene	57.98	Unspecified ⁴⁶ DISEASES inferred ¹⁴ ¹⁴	20837890
31	MIR196A2	MicroRNA 196a-2	RNA Gene	56.81	Unspecified ⁴⁶ GeneCards inferred via : Publications (show sections)	19514064
32	CHD7	Chromodomain Helicase DNA Binding Protein 7	Protein Coding	49.99	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	17280632 19598179 20186814 (more) 19251738 20052490
33	NPPA	Natriuretic Peptide A	Protein Coding	49.63	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18305981 16966855 17900714 (more) 9736347 15124836 10710270 16113566 1531780 18476995 8221809 12380674 16117728 8267994 20211335 11410557 8540445 2141890 18222277 16055212 10323511 15173030 10768278 11554076 8385504 11476749 19158604 1534550 9778544 8112901 19658257 9887389 8425293 7602654 15147331 8403785 1610367 16765125 8403046 9693165 1829864 8731858 11713980 12617331 18032122 2146422 1847093 1387479 12399629 11967816 1354705 1661054 18664125 11465231 8451600 12372945 8403535 9560067 9681414 14973795 15246247 9791037 8630708 1825013 8814360 7857733 8225655 8316748 18469461 11767061 11485754 11230891 20376887 15574430 11359018 2163779 1381766 11558682 9591213 9420665 1324959 14587653 10379945 16146600 1826604 10937980 1532533 1836003 8759805 1655477 10199876 9134374 12925036 8093432 1691381 1535030 1533988 10367599 18819908 1386503 2142031 11231440 10908083 1532302 2139692 15815752 12605591 11476752 8087930 8342501 2146889 12812268 12704487 8855146 11558683 9284403 8727437 8282365 1489072 1472664 1796634 8562234 17121038 16289003 9532906 18353720 15912436 9201062 9013265 8545437 8376700 8099465 8631038 1394917 17587708 17607585 8613267 8236862 1535081 1834391 1828196 11486251 8602299 7599749 7480961 1824738 16741745 1829681 1974099 8275621 8582385 7768035 1323337 2145871 9005168 11094550 10450005 9922344 9855447 9834976 9820995 9166288 9005169 2168005 1839104 1838244 1838025 1657800 1825258 2147107 2146721
34	RYR2	Ryanodine Receptor 2	Protein Coding	49.12	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	17515962 16436635 17081562 (more) 15271719 15831148 16272262 19216760 11866478 18193641 19226252 12401811 15336974 18221109 20408814 16701909 16626281 14659699 17961442 19345240 9476544 11733405 11807805 12743001 18227387 18006456 15016728 14715536 9124414 15451514 15322274 15176427 19482609 18006480 18045169 16407108 17014834 17606610 19167631 11897558 15201156 16824631
35	ACE	Angiotensin I Converting Enzyme	Protein Coding	45.49	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1973098 8092275 19118720 (more) 1507683 9026836 8994434 10470860 10962911 10974219 11347721 12022207 15536282 17132882 17179189 19019755 1657093 9462412 9476560 9668546 9406146 10543928 10711571 10859652 11835905 14643574 16245959 16825089 17540684 10938484 10842889 10442681 7489615 1471600 19648063 17454955 15496047 15373993 17343080 16781387 15889206 9857918 9351063 7805228 20066882 15036826 11603418 11301910 9594626 9527087 8781765 16840386 15128700 15526842 10681079 9693941 18403595 18953361 1299942 7905160 7990099 9115958 9218207 9498629 18483087 18566101 1888525 1593307 9553407 11256587 11422397 11713892 12937357 12944039 15570784 16020860 16453109 1414888 14622625 16285075 11723314 10489393 8485826 15520426 16494512 10194654 19409352 1379144 7473524 15019865 20376345 9869506 11504166 8215788 2193811 16337046 11054627 16601570 10750252 16098844 15528896 15289383 18594050 12174028 16905022 7778532 10686803 8439700 10516201 7713100 12555162 15643463 1865632 1299941 8682055 8224926 12461324 12144075 11192359 11059637 10442679 10598120 9338025 8682063 7700062 16117995 15026561 12895159 12822385 12798835 12022388 10160096 8682065 7679615 19167641 18312901 16379016 12368586 12816171 11967790 10610744 9665217 9333933 7655714 8485825 15209607 11895062 11824872 11433128 11215846 11030019 9855334 9164376 7916201 8174572 19808266 15160834 11684627 12959631 12437489 12008175 11849193 11329759 10938492 10937954 9786099 10874261 10525514 9749264 9717056 8562467 7827370 8074019 13678870 9019340 8576937
36	ZIC3	Zic Family Member 3	Protein Coding	44.69	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	12900569 19933292 14681828 (more) 15470371 17295247
37	TNNI3	Troponin I3, Cardiac Type	Protein Coding	44.3	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	9741821 10627877 15840586 (more) 17680620 15524171 15513324 11238296
38	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	41.91	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18368697 17901361 18378609 (more) 11786529 14642002 15828879 19121808 16344397 15338453 15877619 16296362 17141278
39	MEFV	MEFV Innate Immunity Regulator, Pyrin	Protein Coding	40.7	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications (show sections)
40	NOTCH1	Notch Receptor 1	Protein Coding	39.65	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
41	MYH7	Myosin Heavy Chain 7	Protein Coding	38.85	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8240229 17019812 1533350 (more) 17363698 17099778 19026577 11106718
42	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	37.79	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18054910 15548764 19490382 (more) 14642002 12885765
43	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	37.72	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19541608 16461457 19001090 (more) 15940693 17413276 18203203 12960218 20461756 16053901 18456719 15248152 17515436
44	PDE5A	Phosphodiesterase 5A	Protein Coding	37.57	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Proteins (show sections)	17183346 14622503 16185160 (more) 12625847 19139381 15607396 18036451 19377497 16387564 20347789 19181291 17467673 17691956 19546307 12642401 18040025
45	EDN1	Endothelin 1	Protein Coding	37.42	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	14688679 8836647 10369113 (more) 9535437 8587455 7781198 15938827 15817494 8361190 7661072 18211765 9725392 14526432 10402046 16055212 9386122 18377515 9066378 10768278 8587435 10625089 17897273 8594905 12202858 8176102 9861298 16076689 8606275 10746820 10600660 7698133 12839270 11486251 14729437 10217651 10869543 7658874 11041163 15912304 9595501 15695148 15819505 11243712 10065339 9822098 11811379 7778560 16603181 12565798 11078377 10099694 14718401 14966819 14640891 11918129 10748306 10519162 10937975 9680496 19376546 15642529 11028503 10869264 9595462 16762801 15998353 15766450 10824729 10585894 19212702 15080581 19808358 1378784 8979712 10886296 11309531 14632537 16095497 16442807 11447308 11094550 10646959 9812071 9736439 9441724 9243083 18220030 17338996 8709775 15838303 17562616 16343663 16333235 15328386 13680553 12438291 11294760 9859602 9607370 8739241 18442814 16855133 15324299 12522118 11725953 11400914 10091818 11065215 11011335 10501344 9687887 9498537 9468084 8901663 16084150 15837076 14653059 14506620 12743011 12224443 11907647 11868041
46	MKKS	MKKS Centrosomal Shuttling Protein	Protein Coding	37.05	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15731008 11381270
47	GDF1	Growth Differentiation Factor 1	Protein Coding	36.94	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
48	CERS1	Ceramide Synthase 1	Protein Coding	36.21	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
49	LMNA	Lamin A/C	Protein Coding	35.93	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16601451 18926329 16061563 (more) 17067107 17599607 19715882 14659775 20497714 17136397 17536044 17377071 19882644 11897440 17761684 12196663
50	APOB	Apolipoprotein B	Protein Coding	35.86	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	7489572 7802728 2014459 (more) 1751258 9568750 2117860 11114956 1392706 15006106 15172466 11328915 1769056 12003257 16918825

Sources

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

Sources

Expression for Heart Disease

Search GEO for disease gene expression data for Heart Disease.

Sources

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	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.63	TBX5 NKX2-5 MYL2 MYH6 GATA4
2	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.37	MYL2 MYH6 MAPK1 COL2A1
3	Human Embryonic Stem Cell Pluripotency ⁶⁴ Show member pathways Factors Promoting Cardiogenesis in Vertebrates ⁶⁴	12.27	TBX5 NKX2-5 MYL2 GATA4
4	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.79	TBX5 NODAL NKX2-5 GATA4
5	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.6	TBX5 NKX2-5 GATA4 COL2A1
6	Acute viral myocarditis ⁷⁴	11.53	MYH6 MAPK1 ABL1
7	miRNAs involved in DNA damage response ⁷⁴	11.46	MIR210 MIR21 ABL1
8	RUNX2 regulates bone development ⁶⁶ Show member pathways RUNX2 regulates chondrocyte maturation ⁶⁶ RUNX2 regulates osteoblast differentiation ⁶⁶	11.39	SMAD6 MAPK1 ABL1
9	Heart development ⁷⁴	10.93	TBX5 NKX2-5 MAPK1 GATA4
10	Cardiac progenitor differentiation ⁷⁴	10.82	TBX5 NODAL NKX2-5 MYL2 MYH6 GATA4
11	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.78	NKX2-5 MYL2 GATA4
12	H19 action Rb-E2F1 signaling and CDK-Beta-catenin activity ⁷⁴	10.68	JAG1 CDK8
13	YAP1- and WWTR1 (TAZ)-stimulated gene expression ⁶⁶	10.51	TBX5 NKX2-5 GATA4
14	HOP Signaling ⁶⁴	10.18	GATA4 NKX2-5

Sources

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