MCID: HYP061
MIFTS: 66

Hypertrophic Cardiomyopathy

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Hypertrophic Cardiomyopathy:

Name: Hypertrophic Cardiomyopathy 24 58 36 29 6 37 17 71
Cardiomyopathy, Hypertrophic, Familial 71

Classifications:



External Ids:

KEGG 36 H00292
MESH via Orphanet 44 D002312
UMLS via Orphanet 72 C0007194
Orphanet 58 ORPHA217569
UMLS 71 C0007194 C0949658

Summaries for Hypertrophic Cardiomyopathy

KEGG : 36 Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction.

MalaCards based summary : Hypertrophic Cardiomyopathy, also known as cardiomyopathy, hypertrophic, familial, is related to cardiomyopathy, familial hypertrophic, 1 and cardiomyopathy, familial hypertrophic, 7. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Hypertrophic cardiomyopathy (HCM) and Cardiac conduction. The drugs Angiotensin II and Nebivolol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and liver, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : 74 Hypertrophic cardiomyopathy (HCM) is a condition in which a portion of the heart becomes thickened... more...

GeneReviews: NBK1768

Related Diseases for Hypertrophic Cardiomyopathy

Diseases in the Hypertrophic Cardiomyopathy family:

Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Infantile Hypertrophic Cardiomyopathy, Familial Hypertrophic, 6
Cardiomyopathy, Familial Hypertrophic, 25 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 10 Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 12 Cardiomyopathy, Familial Hypertrophic, 13
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 15
Cardiomyopathy, Familial Hypertrophic, 7 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 17
Cardiomyopathy, Familial Hypertrophic, 18 Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic, 26
Cardiomyopathy, Familial Hypertrophic 27 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training
Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Hypertrophic Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 739)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 34.9 TTN TPM1 TNNT2 TNNI3 MYL2 MYH7
2 cardiomyopathy, familial hypertrophic, 7 34.2 TNNI3 CSRP3
3 cardiomyopathy, familial hypertrophic, 4 33.9 TTN MYBPC3
4 danon disease 33.7 PRKAG2 MYBPC3 LAMP2 GLA
5 leopard syndrome 33.5 TNNT2 PTPN11 MYH7 MYH6
6 atrial standstill 1 33.2 TTN TNNT2 TNNI3 PRKAG2 PLN MYL3
7 barth syndrome 33.0 MYH7 MYH6 MYBPC3
8 cardiac conduction defect 32.9 PLN MYH7 MYBPC3
9 mitochondrial dna depletion syndrome 12b 32.7 SLC25A4 PRKAG2
10 mitral valve insufficiency 32.4 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
11 cardiac arrest 32.3 TTN TNNT2 PLN MYH7 MYH6 MYBPC3
12 congestive heart failure 32.3 TTN TNNT2 TNNI3 PLN MYH7 MYH6
13 atrial fibrillation 32.3 TTN TNNT2 TNNI3 MYH7 MYBPC3
14 myopathy 32.2 TTN SLC25A4 MYH7 MYH6 LAMP2
15 atrioventricular block 32.0 TTN TNNI3 PRKAG2 MYH7
16 fabry disease 32.0 TNNI3 PRKAG2 LAMP2 GLA
17 muscle hypertrophy 31.9 TTN MYH7 MYH6
18 syncope 31.9 TTN ACTN2
19 heart septal defect 31.8 TNNT2 TNNI3 PTPN11 MYH7 MYH6 ACTC1
20 progressive familial heart block, type ia 31.8 MYH7 MYBPC3
21 heart disease 31.8 TTN TNNT2 TNNI3 PTPN11 MYH7 MYH6
22 left bundle branch hemiblock 31.8 TNNT2 TNNI3 MYBPC3
23 wolff-parkinson-white syndrome 31.7 TNNT2 TNNI3 PRKAG2 MYL3 MYL2 MYH7
24 long qt syndrome 31.7 TTN MYH7 MYH6 MYBPC3 ACTN2
25 atrial heart septal defect 31.5 TTN TNNT2 TNNI3 PTPN11 MYH7 MYH6
26 muscular dystrophy 31.5 TTN TNNT2 TNNI3 SLC25A4 MYH7 CSRP3
27 arrhythmogenic right ventricular cardiomyopathy 31.5 TTN PTPN11 PRKAG2 PLN MYL2 MYH7
28 diastolic heart failure 31.4 TTN TNNI3 MYBPC3
29 restrictive cardiomyopathy 31.4 TTN TPM1 TNNT2 TNNI3 SLC25A4 MYL3
30 aortic valve disease 2 31.4 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
31 left ventricular noncompaction 31.4 TTN TPM1 TNNT2 TNNI3 PRKAG2 MYL3
32 heart valve disease 31.4 TNNT2 TNNI3 MYH7 MYH6
33 tetralogy of fallot 31.3 TPM1 TNNT2 TNNI3 PTPN11 MYH7 MYH6
34 familial isolated dilated cardiomyopathy 31.3 TTN TPM1 TNNT2 TNNI3 PLN MYH7
35 dilated cardiomyopathy 31.2 TTN TPM1 TNNT2 TNNI3 SLC25A4 PTPN11
36 brugada syndrome 31.2 TTN TPM1 TNNT2 TNNI3 PRKAG2 PLN
37 dextrocardia 31.1 TNNT2 MYH7 ACTC1
38 endocardial fibroelastosis 31.0 MYH7 CSRP3 ACTN2
39 familial isolated restrictive cardiomyopathy 31.0 TNNT2 TNNI3 MYL2
40 myopathy, congenital 31.0 TTN MYH7 MYH6 ACTN2
41 distal arthrogryposis 30.9 TTN TPM1 MYH7 MYH6 MYBPC3
42 cardiomyopathy, dilated, 1m 30.9 TNNI3 MYL2 CSRP3
43 neuromuscular disease 30.9 TTN MYH7 MYH6 ACTN2
44 constrictive pericarditis 30.8 TTN TNNI3
45 miyoshi muscular dystrophy 30.8 TTN MYH7 MYH6
46 ebstein anomaly 30.7 TPM1 PRKAG2 MYH7 MYH6 MYBPC3 ACTC1
47 facioscapulohumeral muscular dystrophy 1 30.7 TTN SLC25A4 MYH6
48 rare cardiomyopathy 30.7 TTN TNNT2 TNNI3 PRKAG2 PLN MYL3
49 patent foramen ovale 30.6 TNNT2 TNNI3 PTPN11 MYH6 ACTC1
50 silent myocardial infarction 30.6 TNNT2 TNNI3

Comorbidity relations with Hypertrophic Cardiomyopathy via Phenotypic Disease Network (PDN): (show all 14)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Bronchitis
Deficiency Anemia Familial Atrial Fibrillation
First-Degree Atrioventricular Block Heart Disease
Hypertension, Essential Hypothyroidism
Intermediate Coronary Syndrome Mitral Valve Disease
Respiratory Failure Sinoatrial Node Disease

Graphical network of the top 20 diseases related to Hypertrophic Cardiomyopathy:



Diseases related to Hypertrophic Cardiomyopathy

Symptoms & Phenotypes for Hypertrophic Cardiomyopathy

MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 ACTC1 CSRP3 GLA LAMP2 MYBPC3 MYH6
2 homeostasis/metabolism MP:0005376 9.77 ACTC1 CSRP3 GLA LAMP2 MYBPC3 MYH6
3 muscle MP:0005369 9.47 ACTC1 CSRP3 GLA LAMP2 MYBPC3 MYH6

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

Drugs for Hypertrophic Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
2
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
3
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
4
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
5
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
6
Ethanol Approved Phase 4 64-17-5 702
7
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
8
Dobutamine Approved Phase 4 34368-04-2 36811
9 carnitine Phase 4
10 Vasodilator Agents Phase 4
11 Angiotensin II Type 1 Receptor Blockers Phase 4
12 Angiotensin Receptor Antagonists Phase 4
13 Giapreza Phase 4
14 Angiotensinogen Phase 4
15 Neurotransmitter Agents Phase 4
16 Sodium Chloride Symporter Inhibitors Phase 4
17 Diuretics, Potassium Sparing Phase 4
18 Antihypertensive Agents Phase 4
19 Mineralocorticoids Phase 4
20 Mineralocorticoid Receptor Antagonists Phase 4
21 Natriuretic Agents Phase 4
22 diuretics Phase 4
23 Adrenergic beta-1 Receptor Antagonists Phase 4
24 Adrenergic Antagonists Phase 4
25 Adrenergic beta-Antagonists Phase 4
26 Sympatholytics Phase 4
27 Autonomic Agents Phase 4
28 Adrenergic Agents Phase 4
29 Sympathomimetics Phase 4
30 Adrenergic Agonists Phase 4
31 Adrenergic beta-Agonists Phase 4
32 Protective Agents Phase 4
33
Losartan Approved Phase 3 114798-26-4 3961
34
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
35
Atorvastatin Approved Phase 3 134523-00-5 60823
36
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
37
Atenolol Approved Phase 3 29122-68-7 2249
38
Sulconazole Approved Phase 2, Phase 3 61318-90-9
39 Anticholesteremic Agents Phase 3
40 Hypolipidemic Agents Phase 3
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
42 Antimetabolites Phase 3
43 Lipid Regulating Agents Phase 3
44
Trimetazidine Approved, Investigational Phase 2 5011-34-7
45
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
46
Nitroglycerin Approved, Investigational Phase 2 55-63-0 4510
47
Dipyridamole Approved Phase 2 58-32-2 3108
48
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
49
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
50
Ranolazine Approved, Investigational Phase 2 95635-55-5, 142387-99-3 56959

Interventional clinical trials:

(show top 50) (show all 183)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
3 Comparative Study of the Effects of Telmisartan and Nebivolol on 24-h Ambulatory Blood Pressure and Arterial Stiffness in Patients With Arterial Hypertension Unknown status NCT02057328 Phase 4 TELMISARTAN;NEBIVOLOL
4 Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation Completed NCT01721967 Phase 4 Ranolazine
5 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Completed NCT03249272 Phase 4 Regadenoson;Adenosine
6 A Comparison of Isolating the Pulmonary Veins With the Cryoballoon Catheter Versus Radiofrequency Segmental Isolation:a Randomized Controlled Prospective Non-inferiority Trial Completed NCT00774566 Phase 4
7 Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy Not yet recruiting NCT04133532 Phase 4 Metoprolol
8 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Not yet recruiting NCT02948998 Phase 4 Spironolactone
9 The Effects of Dobutamine on Postoperative Systolic Deformation and Diastolic Function in Patients With Hypertrophic Cardiomyopathy Operated for Aortic Valve Stenosis Suspended NCT01375335 Phase 4 Dobutamine
10 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
11 Sinus Rhythm Maintenance in Patients With Hypertrophic Cardiomyopathy and Atrial Fibrillation - Randomized Comparison of Antiarrhythmic Therapy vs. Radiofrequency Catheter Ablation (SHAARC) Completed NCT00821353 Phase 3 Antiarrhythmic drugs
12 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
13 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
14 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
15 A Multi-Center, Open-Label, Randomized Study Evaluating the Safety and Efficacy of Three Dosing Regimens of Replagal Enzyme Replacement Therapy in Adult Patients With Fabry Disease Completed NCT00864851 Phase 3
16 Psychological Support for Patients With an Implantable Cardioverter Defibrillator Completed NCT00152763 Phase 3
17 A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Active, not recruiting NCT03470545 Phase 3 mavacamten;Placebo
18 A Long-Term Safety Extension Study of Mavacamten (MYK-461) in Adults With Hypertrophic Cardiomyopathy Who Have Completed the MAVERICK-HCM (MYK-461-006) or EXPLORER-HCM (MYK-461-005) Trials (MAVA-LTE) Enrolling by invitation NCT03723655 Phase 2, Phase 3 mavacamten
19 Study Title: A Phase 2/3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of GS-6615 on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
20 A Study on the Efficacy, Safety, and Tolerability of Perhexiline Maleate in Subjects With Hypertrophic Cardiomyopathy and Moderate-To-Severe Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
21 A Phase 2b Randomised, Double Blind, Placebo-controlled Trial of Trimetazidine Therapy in Patients With Non-obstructive Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
22 Candesartan Use in Hypertrophic and Non-Obstructive Cardiomyopathy Estate (The CHANCE): a Double-Blind, Placebo-Controlled, Randomized, Multicenter Study Unknown status NCT00430833 Phase 2 candesartan
23 Treatment of Suspected Cholelithiasis With Nitroglycerin: a Randomized, Prospective Double-blind Trial Unknown status NCT01715220 Phase 2 sublingual nitroglycerine
24 INHibition of the Renin Angiotensin System in Hypertrophic Cardiomyopathy and the Effect on Ventricular Hypertrophy - a Randomized Intervention Trial With Losartan. Completed NCT01447654 Phase 2 Losartan;Placebo
25 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
26 A Phase 2 Open-label Pilot Study to Evaluate Efficacy, Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
27 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
28 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
29 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
30 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
31 A Randomized Prospective Comparison of DDD Chamber Pacing and Percutaneous Transluminal Septal Ablation in Obstructive Hypertrophic Cardiomyopathy Associated With Severe Drug-Refractory Symptoms Completed NCT00001894 Phase 2
32 Double-Blind Placebo-Controlled Study of Pirfenidone, A Novel Anti-Fibrotic Drug in Symptomatic Patients With Hypertrophic Cardiomyopathy (HCM) Associated With Left Ventricular Diastolic Function Completed NCT00011076 Phase 2 Pirfenidone
33 Double Blind Placebo Controlled Study of Cyclosporin A in Patients With Left Ventricular Hypertrophy Caused by Sarcomeric Gene Mutations Completed NCT00001965 Phase 2 Cyclosporine A
34 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
35 Randomised, Double Blind, Placebo Controlled Study of Lu AA24493 in Patients With Friedreich's Ataxia to Evaluate Safety and Tolerability and to Explore Efficacy Completed NCT01016366 Phase 2 Lu AA24493;Placebo
36 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Recruiting NCT01332162 Phase 2
37 The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
38 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
39 A Pilot Study Assessing the Effects of Ranolazine on Coronary Microvascular Dysfunction in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03953989 Phase 2 Ranolazine PR (prolonged-release) 500 mg 1 tablet bis in die and 750 mg 1 tablet bis in die
40 Clinical and Genetic Determinants of Disease Progression and Response to Sacubitril/Valsartan vs Lifestyle (Physical Activity and Dietary Nitrate) in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03832660 Phase 2 Sacubitril/Valsartan
41 An Open-Label Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in Study MYK-461-004 (PIONEER) Active, not recruiting NCT03496168 Phase 2 mavacamten
42 A Randomized, Double-blind, Placebo-controlled, Concentration-guided, Exploratory Study of Mavacameten in Patients With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) and Preserved Left Ventricular Ejection Fraction Active, not recruiting NCT03442764 Phase 2 mavacamten;Placebo
43 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
44 A Multi-center, Randomized, Placebo-controlled Patient and Investigator-blinded Study to Explore the Efficacy of Oral Sacubitril/Valsartan in Adult Patients With Non-obstructive Hypertrophic Cardiomyopathy (nHCM) Not yet recruiting NCT04164732 Phase 2 LCZ696;Placebo
45 A Phase 2, Multi-Center, Open-Label, Ascending Dose Study on the Efficacy, Safety and Tolerability of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure With Preserved Left Ventricular Function Terminated NCT02862600 Phase 2 Perhexiline
46 Technetium-NC100692 SCintigraphy to Detect avB3 Integrin Expression as a mARker of Fibrosis in Hypertrophic Cardiomyopathy and Acute Coronary Syndrome: the SCAR Study Terminated NCT01230918 Phase 2
47 Rapid Recovery of Left Ventricular Function in Patients With Takotsubo Syndrome Undergoing Systemic Infusion of Adenosine: a Randomized Controlled Trial (TITAN Study) Terminated NCT02867878 Phase 2 Adenosine;Saline solution
48 A Randomized, Double-Blind Placebo-Controlled Study of 3,5-diiodothyropropionic Acid (DITPA) in Combination With Standard Therapy to Attain NCEP ATP III Goal for LDL Cholesterol in Hypercholesterolemic Patients Terminated NCT00311987 Phase 1, Phase 2 3,5-Diiodothyropropionic acid (DITPA) therapy
49 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
50 Mechanistic Study of the Effect of Inorganic Sodium Nitrate on Cardiac and Skeletal Muscle Metabolic Efficiency in Patients With Hypertrophic Cardiomyopathy Unknown status NCT03251287 Phase 1 Sodium Nitrate;Placebo

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Genetic Tests for Hypertrophic Cardiomyopathy

Genetic tests related to Hypertrophic Cardiomyopathy:

# Genetic test Affiliating Genes
1 Hypertrophic Cardiomyopathy 29

Anatomical Context for Hypertrophic Cardiomyopathy

MalaCards organs/tissues related to Hypertrophic Cardiomyopathy:

40
Heart, Testes, Liver, Brain, Kidney, Skeletal Muscle, Lung

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 12965)
# Title Authors PMID Year
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 61 24
30681346 2019
2
Sudden Death Can Be the First Manifestation of Hypertrophic Cardiomyopathy: Data From a United Kingdom Pathology Registry. 61 24
30784699 2019
3
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 61 24
30297972 2018
4
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. 61 24
29030401 2017
5
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 61 24
28790153 2017
6
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 61 24
26846950 2016
7
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 61 24
25611685 2015
8
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 61 24
25173338 2014
9
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 61 24
24793961 2014
10
Pathogeneses of sudden cardiac death in national collegiate athletic association athletes. 61 24
24585715 2014
11
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. 61 24
23598715 2013
12
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. 61 24
22068435 2011
13
Outcome of mildly symptomatic or asymptomatic obstructive hypertrophic cardiomyopathy: a long-term follow-up study. 61 24
19589436 2009
14
Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. 61 24
16831987 2006
15
Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. 61 24
12540642 2003
16
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 61 24
12081993 2002
17
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 61 24
11815426 2002
18
Tissue Doppler imaging consistently detects myocardial abnormalities in patients with hypertrophic cardiomyopathy and provides a novel means for an early diagnosis before and independently of hypertrophy. 61 24
11447072 2001
19
Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. 61 24
10952953 2000
20
First description of germline mosaicism in familial hypertrophic cardiomyopathy. 61 24
10662815 2000
21
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. 24
29567486 2018
22
Role of Genetic Testing in Inherited Cardiovascular Disease: A Review. 24
28793145 2017
23
A Prospective Study of Sudden Cardiac Death among Children and Young Adults. 24
27332903 2016
24
Timing, rates and spectra of human germline mutation. 24
26656846 2016
25
Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. 24
21903060 2011
26
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 24
19467855 2009
27
Sudden death in young athletes. 24
12968091 2003
28
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
29
Epidemiology and clinical characteristics of atrial fibrillation in patients with inherited heart diseases. 61
31930598 2020
30
CMR for Identifying the Substrate of Ventricular Arrhythmia in Patients With Normal Echocardiography. 61
31326488 2020
31
Ablation of the N-terminus of cardiac essential light chain promotes the super-relaxed state of myosin and counteracts hypercontractility in hypertrophic cardiomyopathy mutant mice. 61
32034976 2020
32
Assessing right ventricular deformation in hypertrophic cardiomyopathy patients with preserved right ventricular ejection fraction: a 3.0-T cardiovascular magnetic resonance study. 61
32029853 2020
33
Early Repolarization Pattern and Left Ventricular Mass in Hypertrophic Cardiomyopathy. 61
32018270 2020
34
Genetic screening for hypertrophic cardiomyopathy in large, asymptomatic military cohorts. 61
32030882 2020
35
Exercise stress test methodology and safety in hypertrophic cardiomyopathy. 61
32013606 2020
36
Tissue-level inflammation and ventricular remodeling in hypertrophic cardiomyopathy. 61
31898271 2020
37
Mitral Subvalvular Apparatus in Hypertrophic Cardiomyopathy May Still Be Enigmatic. 61
31265820 2020
38
Pharmacotherapy for the treatment of obstructive hypertrophic cardiomyopathy. 61
31893930 2020
39
Using MRI to Probe the Heart in Hypertrophic Cardiomyopathy. 61
31770077 2020
40
Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C. 61
32034629 2020
41
Temporal Occurrence of Arrhythmic Complications After Alcohol Septal Ablation. 61
31973555 2020
42
[Meaningful diagnostics: genetics]. 61
31820028 2020
43
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan. 61
31837205 2020
44
Risk stratification in hypertrophic cardiomyopathy. 61
29696341 2020
45
Advanced Imaging Insights in Apical Hypertrophic Cardiomyopathy. 61
31734201 2020
46
A new mutation affecting the converter region of the beta-myosin heavy chain related to hypertrophic cardiomyopathy with poor prognosis. 61
31416728 2020
47
Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy. 61
31371117 2020
48
New Appearance of Fragmented QRS as a Predictor of Ventricular Arrhythmic Events in Patients With Hypertrophic Cardiomyopathy. 61
32037379 2020
49
Altered regional myocardial velocities by tissue phase mapping and feature tracking in pediatric patients with hypertrophic cardiomyopathy. 61
31659403 2020
50
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype. 61
31519519 2020

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6 (show top 50) (show all 3845) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYH7 NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)SNV Pathogenic 378215 rs753392652 14:23883216-23883216 14:23414007-23414007
2 MYBPC3 NC_000011.9:g.(?_47371325)_(47373056_?)deldeletion Pathogenic 417402 11:47371325-47373056 11:47349774-47351505
3 MYBPC3 NC_000011.9:g.(?_47353396)_(47357562_?)deldeletion Pathogenic 417401 11:47353396-47357562 11:47331845-47336011
4 MYBPC3 NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)deletion Pathogenic 407321 rs1060501480 11:47353772-47353772 11:47332221-47332221
5 MYBPC3 NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)deletion Pathogenic 407336 rs1060501484 11:47354127-47354127 11:47332576-47332576
6 MYBPC3 NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs)insertion Pathogenic 407322 rs1060501481 11:47358971-47358972 11:47337420-47337421
7 MYBPC3 NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)deletion Pathogenic 407313 rs1060501478 11:47360100-47360100 11:47338549-47338549
8 MYBPC3 NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys)SNV Pathogenic 407308 rs1060501474 11:47360114-47360114 11:47338563-47338563
9 MYBPC3 NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs)indel Pathogenic 407332 rs1064792936 11:47372823-47372825 11:47351272-47351274
10 MYBPC3 NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter)SNV Pathogenic 407333 rs730880698 11:47372845-47372845 11:47351294-47351294
11 MYBPC3 NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs)deletion Pathogenic 407309 rs1060501475 11:47355198-47355198 11:47333647-47333647
12 MYBPC3 NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs)insertion Pathogenic 407318 rs1060501479 11:47373016-47373017 11:47351465-47351466
13 MYH7 NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu)SNV Pathogenic 407186 rs1060501443 14:23897064-23897064 14:23427855-23427855
14 MYBPC3 NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs)insertion Pathogenic 418356 rs1064793202 11:47355173-47355174 11:47333622-47333623
15 MYH7 NM_000257.4(MYH7):c.2631G>T (p.Met877Ile)SNV Pathogenic 417718 rs1060505018 14:23894026-23894026 14:23424817-23424817
16 MYBPC3 NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter)SNV Pathogenic 454316 rs397515969 11:47359032-47359032 11:47337481-47337481
17 MYBPC3 NC_000011.9:g.(?_47353402)_(47374218_?)deldeletion Pathogenic 454297 11:47353402-47374218 11:47331851-47352667
18 MYBPC3 NC_000011.9:g.(?_47368957)_(47374218_?)deldeletion Pathogenic 454298 11:47368957-47374218 11:47347406-47352667
19 MYBPC3 NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs)duplication Pathogenic 454318 rs1555120937 11:47357491-47357492 11:47335940-47335941
20 MYBPC3 NM_000256.3(MYBPC3):c.317del (p.Pro106fs)deletion Pathogenic 454324 rs1555123629 11:47372142-47372142 11:47350591-47350591
21 MYBPC3 NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr)SNV Pathogenic 454301 rs794727046 11:47367758-47367758 11:47346207-47346207
22 MYBPC3 NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs)duplication Pathogenic 454323 rs1555123633 11:47372150-47372151 11:47350599-47350600
23 MYBPC3 NM_000256.3(MYBPC3):c.2568del (p.Arg856fs)deletion Pathogenic 454317 rs1555121172 11:47358976-47358976 11:47337425-47337425
24 MYBPC3 NM_000256.3(MYBPC3):c.506-3_506dupduplication Pathogenic 454332 rs1555123438 11:47371472-47371473 11:47349921-47349922
25 MYH7 NM_000257.4(MYH7):c.2333A>T (p.Asp778Val)SNV Pathogenic 454354 rs121913634 14:23894581-23894581 14:23425372-23425372
26 MYBPC3 NM_000256.3(MYBPC3):c.926+1_926+5deldeletion Pathogenic 504898 rs1555122811 11:47368173-47368177 11:47346622-47346626
27 MYBPC3 NM_000256.3(MYBPC3):c.926+1G>ASNV Pathogenic 517283 rs767239679 11:47368177-47368177 11:47346626-47346626
28 MYBPC3 NC_000011.9:g.(?_47353402)_(47370112_?)deldeletion Pathogenic 525136 11:47353402-47370112 11:47331851-47348561
29 MYBPC3 NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter)SNV Pathogenic 525030 rs1555120651 11:47355517-47355517 11:47333966-47333966
30 MYBPC3 NC_000011.9:g.(?_47357408)_(47360310_?)deldeletion Pathogenic 525134 11:47357408-47360310 11:47335857-47338759
31 MYBPC3 NM_000256.3(MYBPC3):c.506-1G>ASNV Pathogenic 525018 rs397516056 11:47371474-47371474 11:47349923-47349923
32 MYBPC3 NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter)SNV Pathogenic 525015 rs868819340 11:47372790-47372790 11:47351239-47351239
33 subset of 14 genes: MYBPC3 NC_000011.9:g.(?_46880514)_(47470726_?)deldeletion Pathogenic 525135 11:46880514-47470726
34 MYH7 NM_000257.4(MYH7):c.2464A>G (p.Met822Val)SNV Pathogenic 525013 rs730880742 14:23894193-23894193 14:23424984-23424984
35 MYH7 NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg)SNV Pathogenic 524996 rs758891557 14:23894063-23894063 14:23424854-23424854
36 MYH7 NM_000257.4(MYH7):c.2411T>C (p.Leu804Pro)SNV Pathogenic 525035 rs1555337794 14:23894503-23894503 14:23425294-23425294
37 MYBPC3 NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter)SNV Pathogenic 579276 rs1565622952 11:47354498-47354498 11:47332947-47332947
38 MYBPC3 NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs)duplication Pathogenic 580434 rs1565625473 11:47359276-47359277 11:47337725-47337726
39 MYBPC3 NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs)duplication Pathogenic 573073 rs1565626409 11:47361265-47361266 11:47339714-47339715
40 MYBPC3 NM_000256.3(MYBPC3):c.1725_1726TG[2] (p.Trp577fs)short repeat Pathogenic 582082 rs1565627536 11:47363602-47363603 11:47342051-47342052
41 MYBPC3 NM_000256.3(MYBPC3):c.1422del (p.Glu474fs)deletion Pathogenic 567881 rs1565628062 11:47364416-47364416 11:47342865-47342865
42 MYBPC3 NM_000256.3(MYBPC3):c.1174del (p.Ala392fs)deletion Pathogenic 568945 rs1565628486 11:47365092-47365092 11:47343541-47343541
43 MYBPC3 NM_000256.3(MYBPC3):c.821+2T>ASNV Pathogenic 567968 rs397516076 11:47369406-47369406 11:47347855-47347855
44 MYH7 NM_000257.4(MYH7):c.2135G>A (p.Arg712His)SNV Pathogenic 575575 rs1224554825 14:23895200-23895200 14:23425991-23425991
45 MYH7 NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe)SNV Pathogenic 574861 rs1131691685 14:23896881-23896881 14:23427672-23427672
46 MYBPC3 NM_000256.3(MYBPC3):c.310del (p.Leu104fs)deletion Pathogenic 567779 rs1565631428 11:47372149-47372149 11:47350598-47350598
47 MYBPC3 NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs)duplication Pathogenic 581813 rs1565625777 11:47360070-47360071 11:47338519-47338520
48 MYBPC3 NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs)duplication Pathogenic 576555 rs1565624090 11:47356629-47356630 11:47335078-47335079
49 MYBPC3 NM_000256.3(MYBPC3):c.2541_2542CG[3] (p.Val849fs)short repeat Pathogenic 619254 11:47358999-47359000 11:47337448-47337449
50 MYBPC3 NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)deldeletion Pathogenic 619292

Expression for Hypertrophic Cardiomyopathy

Search GEO for disease gene expression data for Hypertrophic Cardiomyopathy.

Pathways for Hypertrophic Cardiomyopathy

Pathways related to Hypertrophic Cardiomyopathy according to KEGG:

36
# Name Kegg Source Accession
1 Hypertrophic cardiomyopathy (HCM) hsa05410

Pathways related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.75 TTN TPM1 TNNT2 TNNI3 PLN MYL3
2
Show member pathways
12.71 MYL3 MYL2 MYH7 MYH6 ACTN2
3
Show member pathways
12.46 TPM1 TNNT2 TNNI3 SLC25A4 PLN MYL3
4
Show member pathways
12.44 MYL3 MYL2 MYH7 MYH6 ACTN2 ACTC1
5 12.3 TPM1 TNNT2 TNNI3 ACTC1
6
Show member pathways
12.2 MYL3 MYL2 MYH7 MYH6 ACTN2
7
Show member pathways
12.18 MYL3 MYL2 MYH7 MYH6
8 11.79 PLN MYH7 MYH6
9 11.69 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
10
Show member pathways
11.67 TTN TPM1 TNNT2 TNNI3 PRKAG2 PLN
11 11.51 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2
12 11.49 TNNT2 TNNI3 MYL2 MYH6 ACTC1
13 11.45 PRKAG2 MYH7 MYH6
14 11.37 MYL3 MYL2 MYH7 MYH6 ACTC1
15 10.89 MYL2 MYH7

GO Terms for Hypertrophic Cardiomyopathy

Cellular components related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.33 TTN TPM1 TNNT2 TNNI3 PTPN11 PRKAG2
2 actin filament GO:0005884 9.7 TPM1 ACTN2 ACTC1
3 stress fiber GO:0001725 9.69 TPM1 MYH7 MYH6
4 Z disc GO:0030018 9.65 TTN MYH7 MYH6 CSRP3 ACTN2
5 I band GO:0031674 9.63 TTN MYL3 ACTC1
6 myosin complex GO:0016459 9.62 MYL3 MYL2 MYH7 MYH6
7 myosin filament GO:0032982 9.61 MYH7 MYH6 MYBPC3
8 A band GO:0031672 9.58 MYL3 MYL2 MYBPC3
9 myofibril GO:0030016 9.55 TNNT2 TNNI3 MYL2 MYH7 MYH6
10 striated muscle thin filament GO:0005865 9.54 TTN TNNT2
11 muscle myosin complex GO:0005859 9.54 MYL3 MYH7 MYH6
12 troponin complex GO:0005861 9.49 TNNT2 TNNI3
13 cardiac Troponin complex GO:1990584 9.48 TNNT2 TNNI3
14 sarcomere GO:0030017 9.4 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2
15 cardiac myofibril GO:0097512 9.26 TNNT2 TNNI3 MYL2 MYBPC3

Biological processes related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.91 TTN TPM1 TNNT2 TNNI3 MYH7 MYH6
2 heart development GO:0007507 9.88 TNNI3 PTPN11 MYL2 CSRP3
3 platelet degranulation GO:0002576 9.8 TTN LAMP2 ACTN2
4 sarcomere organization GO:0045214 9.8 TTN TPM1 TNNT2 MYH6 CSRP3 ACTN2
5 cellular calcium ion homeostasis GO:0006874 9.79 TNNI3 PLN CSRP3
6 positive regulation of ATPase activity GO:0032781 9.78 TPM1 TNNT2 MYL3 MYBPC3
7 regulation of heart contraction GO:0008016 9.76 TPM1 TNNT2 PLN MYH6
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.76 TPM1 TNNT2 TNNI3 MYL3 MYL2 MYH7
9 striated muscle contraction GO:0006941 9.73 TTN TNNI3 MYH7 MYH6
10 regulation of the force of heart contraction GO:0002026 9.73 PLN MYL3 MYL2 MYH7 MYH6 CSRP3
11 skeletal muscle contraction GO:0003009 9.72 TNNT2 TNNI3 MYH7
12 regulation of muscle contraction GO:0006937 9.71 TPM1 TNNT2 TNNI3
13 cardiac myofibril assembly GO:0055003 9.71 TTN MYL2 CSRP3 ACTC1
14 heart contraction GO:0060047 9.7 TNNI3 MYL2 ACTC1
15 cardiac muscle contraction GO:0060048 9.7 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2
16 negative regulation of ATPase activity GO:0032780 9.69 TNNT2 TNNI3 PLN
17 regulation of striated muscle contraction GO:0006942 9.67 MYL3 MYL2 MYBPC3
18 actin filament-based movement GO:0030048 9.62 MYH6 ACTC1
19 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN ACTC1
20 cardiac muscle hypertrophy in response to stress GO:0014898 9.61 MYH7 MYH6
21 adult heart development GO:0007512 9.6 MYH7 MYH6
22 cardiac muscle fiber development GO:0048739 9.59 TTN MYH6
23 cardiac muscle hypertrophy GO:0003300 9.58 TTN CSRP3
24 skeletal muscle thin filament assembly GO:0030240 9.57 TTN ACTC1
25 detection of muscle stretch GO:0035995 9.56 TTN CSRP3
26 muscle filament sliding GO:0030049 9.36 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2

Molecular functions related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.8 TTN TNNI3 PTPN11 PRKAG2 MYH6
2 protein domain specific binding GO:0019904 9.78 TNNI3 PTPN11 LAMP2 ACTN2
3 motor activity GO:0003774 9.69 MYL3 MYH7 MYH6
4 actin filament binding GO:0051015 9.63 TTN TPM1 TNNI3 MYH7 MYH6 ACTN2
5 actin binding GO:0003779 9.56 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
6 microfilament motor activity GO:0000146 9.52 MYH7 MYH6
7 titin binding GO:0031432 9.49 MYBPC3 ACTN2
8 actinin binding GO:0042805 9.46 TTN CSRP3
9 actin-dependent ATPase activity GO:0030898 9.43 MYH7 MYH6
10 myosin heavy chain binding GO:0032036 9.37 MYL2 MYBPC3
11 telethonin binding GO:0031433 9.32 TTN CSRP3
12 troponin C binding GO:0030172 9.26 TNNT2 TNNI3
13 structural constituent of muscle GO:0008307 9.17 TTN TPM1 MYL3 MYL2 MYBPC3 CSRP3

Sources for Hypertrophic Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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