MCID: HYP061
MIFTS: 68

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 59 37 29 6 38 17 72
Cardiomyopathy, Hypertrophic, Familial 72

Classifications:



External Ids:

KEGG 37 H00292
MESH via Orphanet 45 D002312
UMLS via Orphanet 73 C0007194
Orphanet 59 ORPHA217569
UMLS 72 C0007194 C0949658

Summaries for Hypertrophic Cardiomyopathy

KEGG : 37
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, 6. An important gene associated with Hypertrophic Cardiomyopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Hypertrophic cardiomyopathy (HCM) and Actin Nucleation by ARP-WASP Complex. The drugs Angiotensin II and Nebivolol have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are Increased shRNA abundance and cardiovascular system

Wikipedia : 75 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 732)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 34.9 TTN TPM1 TNNT2 TNNI3 MYL2 MYH7
2 cardiomyopathy, familial hypertrophic, 6 34.6 TNNI3 PRKAG2
3 cardiomyopathy, familial hypertrophic, 4 34.5 TTN MYBPC3
4 atrial standstill 1 33.2 TTN TNNT2 TNNI3 PRKAG2 PLN MYL2
5 cardiac conduction defect 33.0 PLN MYH7 MYBPC3 LMNA
6 cardiac arrest 32.5 TNNT2 PLN MYH7 MYBPC3
7 congestive heart failure 32.4 PLN MYH7 MYH6
8 wolff-parkinson-white syndrome 32.0 TNNI3 PRKAG2 MYH7
9 heart disease 31.8 TTN TNNT2 TNNI3 PTPN11 MYH7 MYH6
10 sick sinus syndrome 31.8 TTN MYH6 LMNA
11 arrhythmogenic right ventricular cardiomyopathy 31.6 TTN PRKAG2 PLN MYH7 LMNA
12 restrictive cardiomyopathy 31.6 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2
13 left ventricular noncompaction 31.5 TTN TPM1 TNNT2 MYH7 MYH6 MYBPC3
14 acute myocardial infarction 31.4 TNNT2 TNNI3 MYL3
15 familial isolated restrictive cardiomyopathy 31.3 TNNT2 TNNI3
16 familial isolated dilated cardiomyopathy 31.2 TTN TPM1 TNNT2 TNNI3 TNNC1 PLN
17 myopathy, distal, 1 31.0 MYH7 MYH6
18 cardiomyopathy, dilated, 1e 30.9 TTN TPM1 MYH7 LMNA
19 patent foramen ovale 30.8 PTPN11 MYH6 ACTC1
20 dilated cardiomyopathy 30.8 TTN TPM1 TNNT2 TNNI3 TNNC1 SLC25A4
21 muscular disease 30.7 TTN SLC25A4 MYH7 MYH6 LMNA
22 peripartum cardiomyopathy 30.7 TTN MYH7
23 endocardial fibroelastosis 30.6 MYH7 CSRP3
24 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.4
25 hypertrophic cardiomyopathy due to intensive athletic training 12.4
26 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.4
27 syndrome associated with hypertrophic cardiomyopathy 12.4
28 glycogen storage disease with hypertrophic cardiomyopathy 12.3
29 obsolete: fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.3
30 deafness, autosomal dominant 22 12.3
31 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.3
32 cardiomyopathy, familial hypertrophic, 10 12.3
33 cardiomyopathy, familial hypertrophic, 8 12.3
34 obsolete: maternally-inherited mitochondrial hypertrophic cardiomyopathy 12.3
35 mitochondrial disease with hypertrophic cardiomyopathy 12.3
36 fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 12.3
37 non-familial hypertrophic cardiomyopathy 12.3
38 lysosomal disease with hypertrophic cardiomyopathy 12.3
39 rare familial disorder with hypertrophic cardiomyopathy 12.3
40 combined oxidative phosphorylation deficiency 10 12.3
41 combined oxidative phosphorylation deficiency 16 12.2
42 cardiomyopathy, familial hypertrophic, 2 12.2
43 cardiomyopathy, familial hypertrophic, 3 12.2
44 cardiomyopathy, familial hypertrophic, 9 12.2
45 cardiomyopathy, familial hypertrophic, 15 12.2
46 cardiomyopathy, familial hypertrophic, 20 12.2
47 cardiomyopathy, familial hypertrophic, 7 12.2
48 cardiomyopathy, familial hypertrophic, 13 12.2
49 cardiomyopathy, familial hypertrophic, 11 12.2
50 cardiomyopathy, familial hypertrophic, 18 12.2

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

GenomeRNAi Phenotypes related to Hypertrophic Cardiomyopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 MYH6 PMPCA PTPN11 TNNI3

MGI Mouse Phenotypes related to Hypertrophic Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 ACTC1 CSRP3 LMNA MYBPC3 MYH6 MYH7
2 muscle MP:0005369 9.44 ACTC1 CSRP3 LMNA MYBPC3 MYH6 MYH7

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

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

(show top 50) (show all 117)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 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
Dobutamine Approved Phase 4 34368-04-2 36811
7 carnitine Phase 4
8 Vasodilator Agents Phase 4
9 Angiotensinogen Phase 4
10 Angiotensin II Type 1 Receptor Blockers Phase 4
11 Angiotensin Receptor Antagonists Phase 4
12 Giapreza Phase 4
13 Antihypertensive Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Sodium Chloride Symporter Inhibitors Phase 4
16 Diuretics, Potassium Sparing Phase 4
17 Mineralocorticoids Phase 4
18 Mineralocorticoid Receptor Antagonists Phase 4
19 diuretics Phase 4
20 Natriuretic Agents Phase 4
21 Sympathomimetics Phase 4
22 Cardiotonic Agents Phase 4
23 Adrenergic Agonists Phase 4
24 Adrenergic beta-Agonists Phase 4
25 Protective Agents Phase 4
26 Adrenergic Agents Phase 4
27 Autonomic Agents Phase 4
28
Losartan Approved Phase 3 114798-26-4 3961
29
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
30
Atorvastatin Approved Phase 3 134523-00-5 60823
31
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
32
Atenolol Approved Phase 3 29122-68-7 2249
33
Sulconazole Approved Phase 2, Phase 3 61318-90-9
34 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
35 Hypolipidemic Agents Phase 3
36 Lipid Regulating Agents Phase 3
37 Anticholesteremic Agents Phase 3
38 Antimetabolites Phase 3
39 Adrenergic beta-1 Receptor Antagonists Phase 3
40 Adrenergic beta-Antagonists Phase 3
41 Adrenergic Antagonists Phase 3
42 Sympatholytics Phase 3
43
Trimetazidine Approved, Investigational Phase 2 5011-34-7
44
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
45
Dipyridamole Approved Phase 2 58-32-2 3108
46
Ethanol Approved Phase 2 64-17-5 702
47
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
48
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
49
Ranolazine Approved, Investigational Phase 2 142387-99-3, 95635-55-5 56959
50
Metoprolol Approved, Investigational Phase 2 37350-58-6, 51384-51-1 4171

Interventional clinical trials:

(show top 50) (show all 173)
# 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 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
6 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
7 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial Not yet recruiting NCT02948998 Phase 4 Spironolactone
8 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
9 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
10 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
11 Statin Induced Regression of Cardiomyopathy Trial - SirCat Completed NCT00317967 Phase 3 Atorvastatin;Placebo
12 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
13 Effects of Losartan vs Atenolol on Aortic Stiffness and Diastolic Function in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
14 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
15 A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT03470545 Phase 3 mavacamten;Placebo
16 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
17 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
18 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
19 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
20 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
21 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
22 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
23 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
24 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
25 Study of Myocardial Perfusion by MRI Completed NCT00001631 Phase 2
26 Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study Completed NCT00035386 Phase 2
27 Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study) Completed NCT00500552 Phase 2 Perhexiline/Placebo
28 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
29 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
30 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
31 Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy Completed NCT00001960 Phase 2
32 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
33 CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy Recruiting NCT01332162 Phase 2
34 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
35 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
36 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias: an Investigator Initiated Trial Recruiting NCT02856373 Phase 2
37 Clinical and Genetic Determinants of Disease Progression and Response to Lifestyle and Pharmacological Interventions in Patients With Hypertrophic Cardiomyopathy Recruiting NCT03832660 Phase 2 Sacubitril/Valsartan
38 Treatment of Suspected Cholelithiasis With Nitroglycerin: a Randomized, Prospective Double-blind Trial Recruiting NCT01715220 Phase 2 sublingual nitroglycerine
39 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
40 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
41 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
42 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
43 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
44 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
45 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
46 An Open Label Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
47 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
48 Diastolic Ventricular Interaction and the Effects Of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
49 Safety, Tolerability, Preliminary Pharmacokinetics and Pharmacodynamics of Single Ascending Oral Doses of MYK-461 in Patient Volunteers With Hypertrophic Cardiomyopathy Completed NCT02329184 Phase 1 MYK-461
50 Safety, Tolerability, Preliminary Pharmacokinetics and Pharmacodynamics of Single Ascending Oral Doses of MYK-461 in Healthy Volunteers Completed NCT02356289 Phase 1 Placebo;MYK-461

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Verapamil

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:

41
Heart, Testes, Brain, Skeletal Muscle, Liver, Lung, Kidney

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 12674)
# Title Authors PMID Year
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 38 4
30681346 2019
2
Sudden Death Can Be the First Manifestation of Hypertrophic Cardiomyopathy: Data From a United Kingdom Pathology Registry. 38 4
30784699 2019
3
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). 38 4
30297972 2018
4
A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients. 38 4
29030401 2017
5
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 38 4
28790153 2017
6
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. 38 4
26846950 2016
7
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 38 4
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). 38 4
25173338 2014
9
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 38 4
24793961 2014
10
Pathogeneses of sudden cardiac death in national collegiate athletic association athletes. 38 4
24585715 2014
11
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. 38 4
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. 38 4
22068435 2011
13
Outcome of mildly symptomatic or asymptomatic obstructive hypertrophic cardiomyopathy: a long-term follow-up study. 38 4
19589436 2009
14
Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. 38 4
16831987 2006
15
Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. 38 4
12540642 2003
16
Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. 38 4
12081993 2002
17
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 38 4
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. 38 4
11447072 2001
19
Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. 38 4
10952953 2000
20
First description of germline mosaicism in familial hypertrophic cardiomyopathy. 38 4
10662815 2000
21
Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline. 4
29567486 2018
22
Role of Genetic Testing in Inherited Cardiovascular Disease: A Review. 4
28793145 2017
23
A Prospective Study of Sudden Cardiac Death among Children and Young Adults. 4
27332903 2016
24
Timing, rates and spectra of human germline mutation. 4
26656846 2016
25
Sudden death in young adults: an autopsy-based series of a population undergoing active surveillance. 4
21903060 2011
26
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 4
19467855 2009
27
Sudden death in young athletes. 4
12968091 2003
28
Risk of cardiac arrhythmias in patients with chronic hepatitis B and C infections - A 13-year nationwide population-based study. 38
30982681 2019
29
Clinical significance of evaluating coronary atherosclerosis in adult patients with hypertrophic cardiomyopathy who have chest pain. 38
30796567 2019
30
Coronary microvascular dysfunction: a key step in the development of uraemic cardiomyopathy? 38
31239278 2019
31
[Alcohol septal ablation for obstructive hypertrophic cardiomopathy]. 38
31070317 2019
32
Prevalence, Characteristics, and Clinical Significance of Concomitant Cardiomyopathies in Subjects with Bicuspid Aortic Valves. 38
31433579 2019
33
Myocardial extracellular volume fraction measurements with MOLLI 5(3)3 by cardiovascular MRI for the discrimination of healthy volunteers from dilated and hypertrophic cardiomyopathy patients. 38
31122714 2019
34
Ventricular tachycardia and heart failure in a patient of mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm: A case report. 38
31410174 2019
35
Histopathological comparison of intramural coronary artery remodeling and myocardial fibrosis in obstructive versus end-stage hypertrophic cardiomyopathy. 38
30979607 2019
36
Hypertrophic cardiomyopathy: New hope for an old disease. 38
31365456 2019
37
Hypertrophic cardiomyopathy: New hope for an old disease. 38
31436719 2019
38
Electrocardiographic and echocardiographic evaluation of a large cohort of peri-pubertal soccer players during pre-participation screening. 38
30696262 2019
39
Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. 38
31410105 2019
40
The long term risk of lead failure in patients with cardiovascular implantable electronic devices undergoing catheter ablation. 38
31407601 2019
41
Region-resolved proteomics profiling of monkey heart. 38
30644093 2019
42
Unusual presentation of acute pulmonary hypertension in a patient with bilateral pneumonia and hypertrophic cardiomyopathy. 38
31389821 2019
43
Chronic Heart Failure Is Infrequently Associated With Renal Dysfunction in Hypertrophic Cardiomyopathy. 38
31158468 2019
44
Impact of Obesity on Left Ventricular Thickness in Children with Hypertrophic Cardiomyopathy. 38
31263917 2019
45
Prevalence and Prognostic Implications of Right Ventricular Dysfunction in Patients With Hypertrophic Cardiomyopathy. 38
31204037 2019
46
Left Ventricular Relaxation Half-Time as a Predictor of Cardiac Events in Idiopathic Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy With Left Ventricular Systolic and/or Diastolic Dysfunction. 38
31130217 2019
47
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation. 38
31355539 2019
48
Conduction Abnormalities and Long-Term Mortality Following Septal Myectomy in Patients With Obstructive Hypertrophic Cardiomyopathy. 38
31370956 2019
49
Comparison of two software systems for quantification of myocardial blood flow in patients with hypertrophic cardiomyopathy. 38
29359273 2019
50
Is there a role for cardiac positron emission tomography in hypertrophic cardiomyopathy? 38
29761309 2019

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6 (show top 50) (show all 3902)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MYBPC3 NM_000256.3(MYBPC3): c.3357C> A (p.Tyr1119Ter) single nucleotide variant Pathogenic 11:47354498-47354498 11:47332947-47332947
2 MYBPC3 NM_000256.3(MYBPC3): c.2377dup (p.Glu793fs) duplication Pathogenic 11:47359277-47359277 11:47337726-47337726
3 MYBPC3 NM_000256.3(MYBPC3): c.2003dup (p.Leu669fs) duplication Pathogenic 11:47361266-47361266 11:47339715-47339715
4 MYBPC3 NM_000256.3(MYBPC3): c.1725_1726TG[2] (p.Trp577fs) short repeat Pathogenic 11:47363602-47363603 11:47342051-47342052
5 MYBPC3 NM_000256.3(MYBPC3): c.1422del (p.Glu474fs) deletion Pathogenic 11:47364416-47364416 11:47342865-47342865
6 MYBPC3 NM_000256.3(MYBPC3): c.1174del (p.Ala392fs) deletion Pathogenic 11:47365092-47365092 11:47343541-47343541
7 MYBPC3 NM_000256.3(MYBPC3): c.821+2T> A single nucleotide variant Pathogenic 11:47369406-47369406 11:47347855-47347855
8 MYH7 NM_000257.4(MYH7): c.2135G> A (p.Arg712His) single nucleotide variant Pathogenic 14:23895200-23895200 14:23425991-23425991
9 MYH7 NM_000257.4(MYH7): c.1801C> T (p.Leu601Phe) single nucleotide variant Pathogenic 14:23896881-23896881 14:23427672-23427672
10 MYBPC3 NM_000256.3(MYBPC3): c.310del (p.Leu104fs) deletion Pathogenic 11:47372149-47372149 11:47350598-47350598
11 MYBPC3 NM_000256.3(MYBPC3): c.2305_2308dup (p.Val771Argfs) duplication Pathogenic 11:47360071-47360074 11:47338520-47338523
12 MYBPC3 NM_000256.3(MYBPC3): c.2868dup (p.Thr957fs) duplication Pathogenic 11:47356630-47356630 11:47335079-47335079
13 MYBPC3 NM_000256.3(MYBPC3): c.2541_2542CG[3] (p.Val849fs) short repeat Pathogenic 11:47358999-47359000 11:47337448-47337449
14 MYBPC3 NM_000256.3(MYBPC3): c.711C> A (p.Tyr237Ter) single nucleotide variant Pathogenic 11:47370036-47370036 11:47348485-47348485
15 MYBPC3 NM_000256.3(MYBPC3): c.313del (p.Ala105fs) deletion Pathogenic 11:47372146-47372146 11:47350595-47350595
16 MYH7 NM_000257.4(MYH7): c.1400T> A (p.Ile467Asn) single nucleotide variant Pathogenic 14:23898171-23898171 14:23428962-23428962
17 MYBPC3 NM_000256.3(MYBPC3): c.(2148+1_2149-1)_(2737+1_2738-1)del deletion Pathogenic
18 MYBPC3 NM_000256.3(MYBPC3): c.3570_3573del (p.Val1192fs) deletion Pathogenic 11:47354171-47354174 11:47332622-47332625
19 MYBPC3 NM_000256.3(MYBPC3): c.2737+1G> A single nucleotide variant Pathogenic 11:47357427-47357427 11:47335876-47335876
20 MYBPC3 NM_000256.3(MYBPC3): c.3799del (p.Arg1267fs) deletion Pathogenic 11:47353638-47353638 11:47332088-47332088
21 MYBPC3 NM_000256.3(MYBPC3): c.2572_2576dup (p.Ser861fs) duplication Pathogenic 11:47358967-47358968 11:47337421-47337425
22 MYBPC3 NM_000256.3(MYBPC3): c.440del (p.Pro147fs) deletion Pathogenic 11:47371630-47371630 11:47350082-47350082
23 MYBPC3 NM_000256.3(MYBPC3): c.2438del (p.Lys813fs) deletion Pathogenic 11:47359106-47359106 11:47337556-47337556
24 MYBPC3 NM_000256.3(MYBPC3): c.1755del (p.Asp587fs) deletion Pathogenic 11:47363577-47363577 11:47342026-47342026
25 MYBPC3 NM_000256.3(MYBPC3): c.1319_1328del (p.Gly440fs) deletion Pathogenic 11:47364595-47364604 11:47343047-47343056
26 MYBPC3 NM_000256.3(MYBPC3): c.3627+2T> G single nucleotide variant Pathogenic 11:47354115-47354115 11:47332564-47332564
27 MYBPC3 NC_000011.9: g.(?_47370117)_(47373066_?)del deletion Pathogenic 11:47370117-47373066 11:47348566-47351515
28 MYH7 NM_000257.4(MYH7): c.2459C> A (p.Ala820Asp) single nucleotide variant Pathogenic 14:23894198-23894198 14:23424989-23424989
29 MYBPC3 NM_000256.3(MYBPC3): c.1440_1441delinsC (p.Glu480fs) indel Pathogenic 11:47364397-47364398 11:47342846-47342847
30 MYH7 NM_000257.4(MYH7): c.5655G> A (p.Ala1885=) single nucleotide variant Pathogenic rs753392652 14:23883216-23883216 14:23414007-23414007
31 MYBPC3 NC_000011.9: g.(?_47371325)_(47373056_?)del deletion Pathogenic 11:47371325-47373056 11:47349774-47351505
32 MYBPC3 NC_000011.9: g.(?_47353396)_(47357562_?)del deletion Pathogenic 11:47353396-47357562 11:47331845-47336011
33 MYBPC3 NM_000256.3(MYBPC3): c.3665del (p.Gly1222fs) deletion Pathogenic rs1060501480 11:47353772-47353772 11:47332221-47332221
34 MYBPC3 NM_000256.3(MYBPC3): c.3617del (p.Gly1206fs) deletion Pathogenic rs1060501484 11:47354127-47354127 11:47332576-47332576
35 MYBPC3 NM_000256.3(MYBPC3): c.2572_2573insAA (p.Ser858fs) insertion Pathogenic rs1060501481 11:47358971-47358972 11:47337420-47337421
36 MYBPC3 NM_000256.3(MYBPC3): c.2279del (p.Asp760fs) deletion Pathogenic rs1060501478 11:47360100-47360100 11:47338549-47338549
37 MYBPC3 NM_000256.3(MYBPC3): c.2265C> A (p.Asn755Lys) single nucleotide variant Pathogenic rs1060501474 11:47360114-47360114 11:47338563-47338563
38 MYBPC3 NM_000256.3(MYBPC3): c.257_259delinsGGAGG (p.Ser86fs) indel Pathogenic rs1064792936 11:47372823-47372825 11:47351272-47351274
39 MYBPC3 NM_000256.3(MYBPC3): c.237C> A (p.Tyr79Ter) single nucleotide variant Pathogenic rs730880698 11:47372845-47372845 11:47351294-47351294
40 MYBPC3 NM_000256.3(MYBPC3): c.3100del (p.Ala1034fs) deletion Pathogenic rs1060501475 11:47355198-47355198 11:47333647-47333647
41 MYBPC3 NM_000256.3(MYBPC3): c.65_66insG (p.Ala23fs) insertion Pathogenic rs1060501479 11:47373016-47373017 11:47351465-47351466
42 MYH7 NM_000257.4(MYH7): c.1618T> C (p.Phe540Leu) single nucleotide variant Pathogenic rs1060501443 14:23897064-23897064 14:23427855-23427855
43 MYBPC3 NM_000256.3(MYBPC3): c.3124_3125insAA (p.Thr1042fs) insertion Pathogenic rs1064793202 11:47355173-47355174 11:47333622-47333623
44 MYH7 NM_000257.4(MYH7): c.2631G> T (p.Met877Ile) single nucleotide variant Pathogenic rs1060505018 14:23894026-23894026 14:23424817-23424817
45 MYBPC3 NC_000011.9: g.(?_47353402)_(47374218_?)del deletion Pathogenic 11:47353402-47374218 11:47331851-47352667
46 MYBPC3 NC_000011.9: g.(?_47368957)_(47374218_?)del deletion Pathogenic 11:47368957-47374218 11:47347406-47352667
47 MYBPC3 NM_000256.3(MYBPC3): c.2648_2673dup (p.Pro892fs) duplication Pathogenic rs1555120937 11:47357492-47357517 11:47335941-47335966
48 MYBPC3 NM_000256.3(MYBPC3): c.2512G> T (p.Glu838Ter) single nucleotide variant Pathogenic rs397515969 11:47359032-47359032 11:47337481-47337481
49 MYBPC3 NM_000256.3(MYBPC3): c.317del (p.Pro106fs) deletion Pathogenic rs1555123629 11:47372142-47372142 11:47350591-47350591
50 MYBPC3 NM_000256.3(MYBPC3): c.1090G> A (p.Ala364Thr) single nucleotide variant Pathogenic rs794727046 11:47367758-47367758 11:47346207-47346207

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:

37
# Name Kegg Source Accession
1 Hypertrophic cardiomyopathy (HCM) hsa05410

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.79 MYL3 MYL2 MYH7 MYH6 ACTC1
2
Show member pathways
12.75 TTN TPM1 TNNT2 TNNI3 TNNC1 PLN
3
Show member pathways
12.73 TPM1 TNNT2 TNNI3 TNNC1 PLN MYL3
4
Show member pathways
12.43 MYL3 MYL2 MYH7 MYH6 ACTC1
5 12.32 TPM1 TNNT2 TNNI3 LMNA ACTC1
6
Show member pathways
12.21 MYL3 MYL2 MYH7 MYH6
7
Show member pathways
12.15 MYL3 MYL2 MYH7 MYH6
8 11.86 PRKAG2 MYL3 MYL2
9 11.74 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
10
Show member pathways
11.74 TTN TPM1 TNNT2 TNNI3 TNNC1 PRKAG2
11 11.51 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
12 11.49 TNNT2 TNNI3 MYL2 MYH6 ACTC1
13 11.46 PRKAG2 MYH7 MYH6
14 11.35 MYL3 MYL2 MYH7 MYH6 ACTC1
15 10.9 MYL3 MYL2 MYH7 MYH6
16 10.88 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 Z disc GO:0030018 9.72 TTN MYH7 MYH6 MYBPC3 CSRP3
2 stress fiber GO:0001725 9.71 TPM1 MYH7 MYH6
3 myosin complex GO:0016459 9.71 MYL3 MYL2 MYH7 MYH6
4 I band GO:0031674 9.69 TTN MYL3 ACTC1
5 striated muscle thin filament GO:0005865 9.67 TTN TNNT2 MYBPC3
6 myosin filament GO:0032982 9.65 MYH7 MYH6 MYBPC3
7 muscle myosin complex GO:0005859 9.63 MYL3 MYH7 MYH6
8 A band GO:0031672 9.61 MYL3 MYL2 MYBPC3
9 contractile fiber GO:0043292 9.55 TNNI3 TNNC1
10 troponin complex GO:0005861 9.54 TNNT2 TNNI3 TNNC1
11 cardiac myofibril GO:0097512 9.46 TNNT2 TNNI3 MYL2 MYBPC3
12 cardiac Troponin complex GO:1990584 9.43 TNNT2 TNNI3 TNNC1
13 myofibril GO:0030016 9.43 TPM1 TNNT2 TNNI3 MYL2 MYH7 MYH6
14 sarcomere GO:0030017 9.36 TTN TPM1 TNNT2 TNNI3 MYL3 MYL2
15 cytosol GO:0005829 10.34 TTN TPM1 TNNT2 TNNI3 TNNC1 PTPN11

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.87 TTN TPM1 TNNT2 TNNI3 MYH7 MYH6
2 cellular calcium ion homeostasis GO:0006874 9.81 TNNI3 PLN CSRP3
3 positive regulation of ATPase activity GO:0032781 9.81 TPM1 TNNT2 MYL3 MYBPC3
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.81 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
5 regulation of heart contraction GO:0008016 9.8 TPM1 TNNT2 PLN MYH6
6 sarcomere organization GO:0045214 9.8 TTN TPM1 TNNT2 MYH6 MYBPC3
7 skeletal muscle contraction GO:0003009 9.78 TNNT2 TNNI3 TNNC1 MYH7
8 cardiac myofibril assembly GO:0055003 9.77 TTN MYL2 MYBPC3 CSRP3 ACTC1
9 regulation of muscle contraction GO:0006937 9.76 TPM1 TNNT2 TNNI3 TNNC1
10 cardiac muscle tissue morphogenesis GO:0055008 9.75 TTN MYBPC3 ACTC1
11 cardiac muscle fiber development GO:0048739 9.74 TTN MYH6 MYBPC3
12 heart contraction GO:0060047 9.73 TNNI3 MYL2 ACTC1
13 striated muscle contraction GO:0006941 9.73 TTN TNNI3 MYH7 MYH6
14 regulation of the force of heart contraction GO:0002026 9.73 PLN MYL3 MYL2 MYH7 MYH6 CSRP3
15 skeletal muscle thin filament assembly GO:0030240 9.72 TTN MYBPC3 ACTC1
16 negative regulation of ATPase activity GO:0032780 9.71 TNNT2 TNNI3 PLN
17 regulation of striated muscle contraction GO:0006942 9.7 MYL3 MYL2 MYBPC3
18 muscle filament sliding GO:0030049 9.7 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
19 actin filament-based movement GO:0030048 9.64 MYH6 ACTC1
20 cardiac muscle tissue development GO:0048738 9.64 PLN CSRP3
21 cardiac muscle hypertrophy in response to stress GO:0014898 9.63 MYH7 MYH6
22 adult heart development GO:0007512 9.62 MYH7 MYH6
23 transition between fast and slow fiber GO:0014883 9.62 TNNC1 MYH7
24 skeletal muscle myosin thick filament assembly GO:0030241 9.61 TTN MYBPC3
25 cardiac muscle hypertrophy GO:0003300 9.61 TTN CSRP3
26 regulation of ATPase activity GO:0043462 9.6 TNNC1 MYH6
27 detection of muscle stretch GO:0035995 9.59 TTN CSRP3
28 regulation of muscle filament sliding speed GO:0032972 9.58 TNNT2 TNNC1
29 cardiac muscle contraction GO:0060048 9.4 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.88 TTN TNNI3 PTPN11 PRKAG2 MYH6
2 calcium ion binding GO:0005509 9.88 TTN TNNT2 TNNC1 MYL3 MYL2 CALR3
3 motor activity GO:0003774 9.71 MYL3 MYH7 MYH6
4 actin binding GO:0003779 9.7 TPM1 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
5 myosin binding GO:0017022 9.56 MYBPC3 ACTC1
6 microfilament motor activity GO:0000146 9.55 MYH7 MYH6
7 muscle alpha-actinin binding GO:0051371 9.52 TTN MYBPC3
8 actin-dependent ATPase activity GO:0030898 9.51 MYH7 MYH6
9 actin filament binding GO:0051015 9.5 TTN TPM1 TNNI3 TNNC1 MYH7 MYH6
10 actinin binding GO:0042805 9.49 TTN CSRP3
11 myosin heavy chain binding GO:0032036 9.46 MYL2 MYBPC3
12 telethonin binding GO:0031433 9.43 TTN CSRP3
13 troponin I binding GO:0031013 9.37 TNNT2 TNNC1
14 troponin T binding GO:0031014 9.32 TNNI3 TNNC1
15 troponin C binding GO:0030172 9.26 TNNT2 TNNI3
16 structural constituent of muscle GO:0008307 9.1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....