MCID: HYP061
MIFTS: 64

Hypertrophic Cardiomyopathy

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Hypertrophic Cardiomyopathy

MalaCards integrated aliases for Hypertrophic Cardiomyopathy:

Name: Hypertrophic Cardiomyopathy 12 76 24 37 29 6 15 38 73
Familial Hypertrophic Cardiomyopathy 12 53 25
Cardiomyopathy, Hypertrophic, Familial 44 73
Heritable Hypertrophic Cardiomyopathy 53 25
Cardiomyopathy, Hypertrophic 44 40
Idiopathic Hypertrophic Subaortic Stenosis 25
Hypertrophic Obstructive Cardiomyopathy 12
Cardiomyopathy Hypertrophic Obstructive 55
Familial Asymmetric Septal Hypertrophy 25
Cardiomyopathy Familial Hypertrophic 53
Hereditary Ventricular Hypertrophy 25
Familial Hcm 53
Hcm 25

Classifications:



Summaries for Hypertrophic Cardiomyopathy

NIH Rare Diseases : 53 Familial hypertrophic cardiomyopathy (HCM) is an inherited heart condition characterized by thickening of the heart muscle. The thickening most often occurs in the muscle wall that separates the left and right ventricles from each other (interventricular septum). This may restrict the flow of oxygen-rich blood from the heart, or it may lead to less efficient pumping of blood. Signs and symptoms can vary. While some people have no symptoms, others may have chest pain, shortness of breath, palpitations, lightheadedness, dizziness, and/or fainting. Even in the absence of symptoms, familial HCM can have serious consequences such as life-threatening arrhythmias, heart failure, and an increased risk of sudden death. Familial HCM may be caused by mutations in any of several genes and is typically inherited in an autosomal dominant manner. Treatment may depend on severity of symptoms and may include medications, surgical procedures, and/or an implantable cardioverter-defibrillator (ICD).

MalaCards based summary : Hypertrophic Cardiomyopathy, also known as familial hypertrophic cardiomyopathy, 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 Aldosterone synthesis and secretion. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related phenotypes are cardiovascular system and homeostasis/metabolism

Disease Ontology : 12 An intrinsic cardiomyopathy that has material basis in autosomal dominant inheritance and that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.

Genetics Home Reference : 25 Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life.

Wikipedia : 76 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, 19
Cardiomyopathy, Familial Hypertrophic, 20 Cardiomyopathy, Familial Hypertrophic, 21
Cardiomyopathy, Familial Hypertrophic, 26 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

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

(show top 50) (show all 312)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, familial hypertrophic, 1 34.9 MYBPC3 MYH6 MYH7
2 cardiomyopathy, familial hypertrophic, 6 34.6 PRKAG2 TNNI3
3 cardiomyopathy, familial hypertrophic, 4 34.1 MYBPC3 TTN
4 cardiac conduction defect 32.3 LMNA MYBPC3 MYH7 RYR2
5 wolff-parkinson-white syndrome 31.9 MYH7 PRKAG2 TNNI3
6 myopathy 31.8 FHL1 LMNA MYH6 MYH7 TNNI3 TTN
7 heart disease 31.7 ACTC1 LMNA MYBPC3 MYH6 MYH7 PTPN11
8 cardiac arrest 31.7 MYBPC3 RYR2 TNNT2
9 left ventricular noncompaction 31.6 ACTC1 CSRP3 LMNA MYBPC3 MYH6 MYH7
10 muscle hypertrophy 31.5 FHL1 MYH6 MYH7
11 arrhythmogenic right ventricular cardiomyopathy 31.3 LMNA PRKAG2 RYR2 TTN
12 restrictive cardiomyopathy 31.2 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNI3
13 atrial standstill 1 30.9 CSRP3 LMNA MYBPC3 MYH6 MYH7 MYL2
14 acute myocardial infarction 30.5 MYL3 TNNI3 TNNT2
15 dilated cardiomyopathy 30.1 ACTC1 ATP6V1G2-DDX39B CSRP3 LMNA MYBPC3 MYH6
16 fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex i deficiency 12.2
17 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial dna mutation 12.1
18 hypertrophic cardiomyopathy due to intensive athletic training 12.1
19 congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 12.1
20 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 12.0
21 combined oxidative phosphorylation deficiency 16 11.9
22 deafness, autosomal dominant 22 11.8
23 combined oxidative phosphorylation deficiency 10 11.8
24 cardiomyopathy, familial hypertrophic, 8 11.8
25 cardiomyopathy, familial hypertrophic, 10 11.8
26 cardiomyopathy, familial hypertrophic, 2 11.7
27 cardiomyopathy, familial hypertrophic, 3 11.7
28 cardiomyopathy, familial hypertrophic, 15 11.7
29 cardiomyopathy, familial hypertrophic, 9 11.7
30 cardiomyopathy, familial hypertrophic, 20 11.7
31 cardiomyopathy, infantile hypertrophic 11.7
32 cardiomyopathy, familial hypertrophic, 11 11.7
33 cardiomyopathy, familial hypertrophic, 12 11.7
34 cardiomyopathy, familial hypertrophic, 13 11.7
35 cardiomyopathy, familial hypertrophic, 14 11.7
36 cardiomyopathy, familial hypertrophic, 7 11.7
37 cardiomyopathy, familial hypertrophic, 16 11.7
38 cardiomyopathy, familial hypertrophic, 17 11.7
39 cardiomyopathy, familial hypertrophic, 18 11.7
40 cardiomyopathy, familial hypertrophic, 19 11.7
41 cardiomyopathy, familial hypertrophic, 21 11.7
42 sengers syndrome 11.6
43 cardiomyopathy, familial hypertrophic, 25 11.5
44 cardiomyopathy, familial hypertrophic, 26 11.5
45 costello syndrome 11.5
46 noonan syndrome 1 11.5
47 combined oxidative phosphorylation deficiency 23 11.5
48 combined oxidative phosphorylation deficiency 8 11.4
49 mitochondrial complex iv deficiency 11.4
50 friedreich ataxia 1 11.4

Comorbidity relations with Hypertrophic Cardiomyopathy via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Bronchitis
Chronic Myocardial Ischemia Deficiency Anemia
Familial Atrial Fibrillation First-Degree Atrioventricular Block
Heart Disease Hypertension, Essential
Hypothyroidism Intermediate Coronary Syndrome
Ischemic Heart Disease 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10 MYH7 MYL2 PRKAG2 PTPN11 ACTC1 RYR2
2 homeostasis/metabolism MP:0005376 9.73 MYL2 PRKAG2 PTPN11 ACTC1 RYR2 CSRP3
3 muscle MP:0005369 9.47 MYH7 MYL2 PRKAG2 PTPN11 ACTC1 RYR2

Drugs & Therapeutics for Hypertrophic Cardiomyopathy

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

(show top 50) (show all 101)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
3
Regadenoson Approved, Investigational Phase 4,Not Applicable 313348-27-5 219024
4
Dobutamine Approved Phase 4,Not Applicable 34368-04-2 36811
5
Adenosine Approved, Investigational Phase 4 58-61-7 60961
6 diuretics Phase 4
7 Diuretics, Potassium Sparing Phase 4,Not Applicable
8 Hormone Antagonists Phase 4
9 Hormones Phase 4
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
11 Mineralocorticoid Receptor Antagonists Phase 4
12 Mineralocorticoids Phase 4
13 Natriuretic Agents Phase 4
14 Vasodilator Agents Phase 4,Phase 2,Phase 3,Not Applicable
15 Sodium Channel Blockers Phase 4,Not Applicable
16 Analgesics Phase 4,Phase 3,Phase 2
17 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Neurotransmitter Agents Phase 4,Phase 3,Not Applicable
19 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 Adrenergic Agents Phase 4,Phase 3,Not Applicable
21 Adrenergic Agonists Phase 4,Not Applicable
22 Adrenergic beta-Agonists Phase 4,Not Applicable
23 Autonomic Agents Phase 4,Phase 3,Not Applicable
24 Protective Agents Phase 4,Phase 1,Not Applicable
25 carnitine Nutraceutical Phase 4,Phase 2
26
Angiotensin II Approved, Investigational Phase 3,Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
27
Diltiazem Approved, Investigational Phase 2, Phase 3 42399-41-7 39186
28
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
29
Atenolol Approved Phase 3 29122-68-7 2249
30
Losartan Approved Phase 3,Phase 2 114798-26-4 3961
31
Ethanol Approved Phase 3,Phase 2 64-17-5 702
32
Perhexiline Approved, Investigational Phase 3,Phase 2 6621-47-2 4746
33
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
34 Antihypertensive Agents Phase 2, Phase 3,Phase 3,Not Applicable
35 Angiotensin II Type 1 Receptor Blockers Phase 3,Phase 2
36 Angiotensin Receptor Antagonists Phase 3,Phase 2
37 Angiotensinogen Phase 3,Phase 2
38 calcium channel blockers Phase 2, Phase 3,Phase 3,Not Applicable
39 Calcium, Dietary Phase 2, Phase 3,Phase 3,Not Applicable
40 Anticholesteremic Agents Phase 3
41 Antimetabolites Phase 3
42 Atorvastatin Calcium Phase 3 134523-03-8
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
44 Hypolipidemic Agents Phase 3
45 Lipid Regulating Agents Phase 3
46 Adrenergic Antagonists Phase 3
47 Adrenergic beta-1 Receptor Antagonists Phase 3
48 Adrenergic beta-Antagonists Phase 3
49 Sympatholytics Phase 3
50 Analgesics, Non-Narcotic Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 147)
# Name Status NCT ID Phase Drugs
1 Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy Unknown status NCT00879060 Phase 4 spironolactone
2 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
3 Ranolazine for the Treatment of Chest Pain in HCM Patients Completed NCT01721967 Phase 4 Ranolazine
4 Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve Recruiting NCT03249272 Phase 4 Regadenoson;Adenosine
5 Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy Not yet recruiting NCT02948998 Phase 4 Spironolactone
6 The Effects of Dobutamine on Postoperative Cardiac Function in Aortic Valve Replacement Suspended NCT01375335 Phase 4 Dobutamine
7 Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00698074 Phase 3
8 Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem Completed NCT00319982 Phase 2, Phase 3 Diltiazem;Placebo
9 Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy Completed NCT00821353 Phase 3 Antiarrhythmic drugs
10 Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart Completed NCT00317967 Phase 3 Atorvastatin;Placebo
11 Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome Completed NCT00723801 Phase 3 Atenolol;Losartan
12 Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Recruiting NCT03470545 Phase 3 mavacamten;Placebo
13 Mobilization of Endothelial Progenitor Cells and Aspirin Recruiting NCT02674958 Phase 3 Aspirin
14 Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy Terminated NCT02291237 Phase 2, Phase 3 Eleclazine;Placebo
15 Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure Withdrawn NCT02431221 Phase 3 Perhexiline;Placebo
16 Trimetazidine Therapy in Hypertrophic Cardiomyopathy Unknown status NCT01696370 Phase 2 Trimetazidine
17 CHANCE - Candesartan in Hypertrophic Cardiomyopathy Unknown status NCT00430833 Phase 2 candesartan
18 Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy Completed NCT00500552 Phase 2 Perhexiline/Placebo
19 Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy Completed NCT01447654 Phase 2 Losartan;Placebo
20 Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy Completed NCT01150461 Phase 2 losartan;placebo
21 Pirfenidone to Treat Hypertrophic Cardiomyopathy Completed NCT00011076 Phase 2 Pirfenidone
22 Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study Completed NCT00035386 Phase 2
23 A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy Completed NCT00001894 Phase 2
24 Hypertrophic Cardiomyopathy Symptom Release by BX1514M Completed NCT02590809 Phase 2 Treatment BX1514M;Placebo
25 Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle Completed NCT00001960 Phase 2
26 A Phase 2 Open-label Pilot Study Evaluating MYK-461 in Subjects With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction Completed NCT02842242 Phase 2 MYK-461
27 Cyclosporine A to Treat Hypertrophic Cardiomyopathy (HCM) Completed NCT00001965 Phase 2 Cyclosporine A
28 Study of Blood Flow in Heart Muscle Completed NCT00001631 Phase 2
29 Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER Recruiting NCT03496168 Phase 2 mavacamten
30 The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy. Recruiting NCT03532802 Phase 2 Metoprolol Succinate;Placebo oral capsule
31 A Phase 2 Study of Mavacamten in Adults With Symptomatic Non-Obstructive Hypertrophic Cardiomyopathy (nHCM) Recruiting NCT03442764 Phase 2 mavacamten;Placebo
32 CArdiac Desynchronization In Obstructive HCM, CARDIO-HCM Recruiting NCT01332162 Phase 2
33 Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular Arrhythmias Recruiting NCT02856373 Phase 2
34 Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM Active, not recruiting NCT01912534 Phase 2 Valsartan;Placebo
35 Open-Label Study of Perhexiline in Patients With Hypertrophic Cardiomyopathy and Moderate to Severe Heart Failure Terminated NCT02862600 Phase 2 Perhexiline
36 Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis Terminated NCT01230918 Phase 2
37 Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy Withdrawn NCT01556568 Phase 2 MEK162
38 Biventricular Pacing in Hypertrophic Cardiomyopathy Unknown status NCT00504647 Phase 1
39 Natural History and Results of Dual Chamber (DDD) Pacemaker Therapy of Children With Obstructive Hypertrophic Cardiomyop... Completed NCT00001396 Phase 1
40 Study Evaluating the Safety, Tolerability and Preliminary Pharmacokinetics and Pharmacodynamics of MYK-461 Completed NCT02329184 Phase 1 MYK-461
41 Hypertrophic Regression With N-Acetylcysteine in HCM Completed NCT01537926 Phase 1 N-acetylcysteine;Placebo
42 Single Ascending Dose Study of MYK-461 in Healthy Volunteers Completed NCT02356289 Phase 1 Placebo;MYK-461
43 Nitrite in Hypertrophic Cardiomyopathy (HCM) Study Recruiting NCT03251287 Phase 1 Sodium Nitrate;Placebo
44 Metabolic Imaging of the Heart Using Hyperpolarized (13C) Pyruvate Injection Recruiting NCT02648009 Phase 1 Hyperpolarized (13) Pyruvate Injection
45 New Diagnostic Strategy in Hypertrophic Cardiomyopathy Unknown status NCT02520856
46 Morbidity and Mortality in Patients With Hypertrophic Cardiomyopathy: a CALIBER Study Unknown status NCT02424994
47 Hyper-synchronicity in Hypertrophic Cardiomyopathy (HCM) : Description, Mechanism and Origin With a Multi-imaging Approach to Predict Dual Chamber Pacing Response Unknown status NCT02559726 Not Applicable
48 Comparison of Data Obtained by Echocardiography and Magnetic Resonance Imaging in Hypertrophic Cardiomyopathy Unknown status NCT00315783
49 CRyo-Ablation to Treat Patients With HOCM. Unknown status NCT01875016 Not Applicable
50 Exercise Training in Patients With Hypertrophic Cardiomyopathy Unknown status NCT01518114 Not Applicable

Search NIH Clinical Center for Hypertrophic Cardiomyopathy

Cochrane evidence based reviews: cardiomyopathy, hypertrophic

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, Endothelial, Skeletal Muscle, Cardiac Myocytes, Liver

Publications for Hypertrophic Cardiomyopathy

Articles related to Hypertrophic Cardiomyopathy:

(show top 50) (show all 1749)
# Title Authors Year
1
Programmed ventricular stimulation predicts arrhythmic events and survival in hypertrophic cardiomyopathy. ( 29407088 )
2018
2
Genetic variation at the long noncoding RNA H19 gene is associated with the risk of hypertrophic cardiomyopathy. ( 29962225 )
2018
3
Rest and Stress Longitudinal Systolic Left Ventricular Mechanics in Hypertrophic Cardiomyopathy: Implications for Prognostication. ( 29426649 )
2018
4
Prognosis of adult obstructive hypertrophic cardiomyopathy patients with different morphological types after surgical myectomy. ( 29444294 )
2018
5
Usefulness of Red Blood Cell Distribution Width to Predict Heart Failure Hospitalization in Patients with Hypertrophic Cardiomyopathy. ( 29877309 )
2018
6
Autonomic cardiovascular control and cardiac arrhythmia in two pregnant women with hypertrophic cardiomyopathy: Insights from ICD monitoring. ( 29678624 )
2018
7
CaMKII-mediated phosphorylation of RyR2 plays a crucial role in aberrant Ca<sup>2+</sup>release as an arrhythmogenic substrate in cardiac troponin T-related familial hypertrophic cardiomyopathy. ( 29402414 )
2018
8
Investigation of myocardial dysfunction using three-dimensional speckle tracking echocardiography in a genetic positive hypertrophic cardiomyopathy Chinese family. ( 29978770 )
2018
9
Implantable cardioverter defibrillators in the context of hypertrophic cardiomyopathy: a lesson in patient autonomy. ( 29437742 )
2018
10
Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing. ( 29398688 )
2018
11
Prognostic significance of anterior mitral valve leaflet length in individuals with a hypertrophic cardiomyopathy gene mutation without hypertrophic changes. ( 29876904 )
2018
12
Phenotype-modifying Factors in Hypertrophic Cardiomyopathy. Response. ( 29954718 )
2018
13
Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle. ( 29452157 )
2018
14
Isolated Severe Right Ventricular Hypertrophic Cardiomyopathy. ( 29944878 )
2018
15
LeftA ventricular apical aneurysm in hypertrophic cardiomyopathy as a risk factor for sudden death at any age. ( 29893504 )
2018
16
Echocardiography Guided Liwen Procedure<sup>a8c</sup> for the treatment of obstructive hypertrophic cardiomyopathy in a patient with prior aortic valve replacement surgery: Liwen procedure for intra-myocardial radiofrequency ablation. ( 29870575 )
2018
17
Usefulness of Serum Omentin-1 Levels for the Predictions of Adverse Cardiac Events in Patients with Hypertrophic Cardiomyopathy. ( 29402833 )
2018
18
A new look into hypertrophic cardiomyopathy based on clinical evidence. ( 29428048 )
2018
19
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report. ( 29768383 )
2018
20
Biatrial performance in children with hypertrophic cardiomyopathy: CMR study. ( 29882072 )
2018
21
Coexistence of Gitelman Syndrome and Hypertrophic Cardiomyopathy in a Pregnant Woman. ( 29375229 )
2018
22
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. ( 29452394 )
2018
23
A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease. ( 29753918 )
2018
24
Early detection of myocardial dysfunction using two-dimensional speckle tracking echocardiography in a young cat with hypertrophic cardiomyopathy. ( 29449957 )
2018
25
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. ( 29875424 )
2018
26
Predictors of future onset of atrial fibrillation in hypertrophic cardiomyopathy. ( 29884599 )
2018
27
Novel I+-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation. ( 29440008 )
2018
28
Fibrosis and wall thickness affect ventricular repolarization dynamics in hypertrophic cardiomyopathy. ( 29974557 )
2018
29
Takotsubo Cardiomyopathy in a Patient with Previously Undiagnosed Hypertrophic Cardiomyopathy with Latent Obstruction. ( 29877256 )
2018
30
Septal myectomy for hypertrophic cardiomyopathy: important surgical knowledge and technical tips in the era of increasing alcohol septal ablation. ( 29450766 )
2018
31
The Significance of Interstitial Fibrosis on Left Ventricular Function in Hypertensive versus Hypertrophic Cardiomyopathy. ( 29968754 )
2018
32
Hypertrophic Cardiomyopathy in Liver Transplantation Patients. ( 29880372 )
2018
33
The vital role of exercise testing in hypertrophic cardiomyopathy. ( 29921517 )
2018
34
Dofetilide for suppression of atrial fibrillation in hypertrophic cardiomyopathy: A case series and literature review. ( 29450893 )
2018
35
Gene therapy strategies in the treatment of hypertrophic cardiomyopathy. ( 29971600 )
2018
36
Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. ( 29911009 )
2018
37
Correction to: Comparison of two software systems for quantification of myocardial blood flow in patients with hypertrophic cardiomyopathy. ( 29423907 )
2018
38
Was a mistake made when programmed electrical stimulation was eliminated as a sudden death risk marker in hypertrophic cardiomyopathy? ( 29407097 )
2018
39
Daily Step Count as a Simple Marker of Disease Severity in Hypertrophic Cardiomyopathy. ( 29398473 )
2018
40
Importance of cardiovascular examination in patients with multiple lentigines: two cases of LEOPARD syndrome with hypertrophic cardiomyopathy. ( 29717636 )
2018
41
Mid-term outcomes of biventricular obstruction and left ventricular outflow tract obstruction after surgery correction in child and adolescent patients with hypertrophic cardiomyopathy. ( 29408870 )
2018
42
High T2-weighted signal intensity is associated with elevated troponin T in hypertrophic cardiomyopathy. ( 27506680 )
2017
43
[Predicting value of 2014 European guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy]. ( 29325362 )
2017
44
Transapical approach for myectomy in hypertrophic cardiomyopathy. ( 28944185 )
2017
45
(1)H- and (31)P-myocardial magnetic resonance spectroscopy in non-obstructive hypertrophic cardiomyopathy patients and competitive athletes. ( 28070839 )
2017
46
The surgical management of obstructive hypertrophic cardiomyopathy: the RPR procedure-resection, plication, release. ( 28944186 )
2017
47
A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy. ( 27910300 )
2017
48
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect. ( 27891585 )
2017
49
Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy. ( 28614222 )
2017
50
Genetic polymorphism of angiotensin-converting enzyme and hypertrophic cardiomyopathy risk: A systematic review and meta-analysis. ( 29310338 )
2017

Variations for Hypertrophic Cardiomyopathy

ClinVar genetic disease variations for Hypertrophic Cardiomyopathy:

6
(show top 50) (show all 4495)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh38 Chromosome 11, 47332127: 47332144
2 MYBPC3 NM_000256.3(MYBPC3) duplication Pathogenic/Likely pathogenic rs193922384 GRCh37 Chromosome 11, 47353678: 47353695
3 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
4 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
5 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh37 Chromosome 11, 47354789: 47354789
6 MYBPC3 NM_000256.3(MYBPC3): c.3286G> T (p.Glu1096Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909377 GRCh38 Chromosome 11, 47333238: 47333238
7 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh37 Chromosome 11, 47354743: 47354743
8 MYBPC3 NM_000256.3(MYBPC3): c.3330+2T> G single nucleotide variant Pathogenic/Likely pathogenic rs387906397 GRCh38 Chromosome 11, 47333192: 47333192
9 TNNI3 NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
10 TNNI3 NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly) single nucleotide variant Pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
11 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
12 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
13 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894727 GRCh37 Chromosome 19, 55663249: 55663249
14 TNNI3 NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn) single nucleotide variant Pathogenic/Likely pathogenic rs104894727 GRCh38 Chromosome 19, 55151881: 55151881
15 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh37 Chromosome 19, 55663260: 55663260
16 TNNI3 NM_000363.4(TNNI3): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs104894729 GRCh38 Chromosome 19, 55151892: 55151892
17 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894724 GRCh37 Chromosome 19, 55665514: 55665514
18 TNNI3 NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894724 GRCh38 Chromosome 19, 55154146: 55154146
19 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
20 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh38 Chromosome 15, 63060899: 63060899
21 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh37 Chromosome 3, 46901001: 46901001
22 MYL3 NM_000258.2(MYL3): c.445A> G (p.Met149Val) single nucleotide variant Pathogenic rs104893748 GRCh38 Chromosome 3, 46859511: 46859511
23 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh37 Chromosome 14, 23898487: 23898487
24 MYH7 NM_000257.3(MYH7): c.1208G> A (p.Arg403Gln) single nucleotide variant Pathogenic rs121913624 GRCh38 Chromosome 14, 23429278: 23429278
25 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh37 Chromosome 14, 23900677: 23900677
26 MYH7 NM_000257.3(MYH7): c.746G> A (p.Arg249Gln) single nucleotide variant Pathogenic/Likely pathogenic rs3218713 GRCh38 Chromosome 14, 23431468: 23431468
27 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
28 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh38 Chromosome 14, 23429005: 23429005
29 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh37 Chromosome 14, 23896932: 23896932
30 MYH7 NM_000257.3(MYH7): c.1750G> C (p.Gly584Arg) single nucleotide variant Pathogenic rs121913626 GRCh38 Chromosome 14, 23427723: 23427723
31 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh37 Chromosome 14, 23896866: 23896866
32 MYH7 NM_000257.3(MYH7): c.1816G> A (p.Val606Met) single nucleotide variant Pathogenic/Likely pathogenic rs121913627 GRCh38 Chromosome 14, 23427657: 23427657
33 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh37 Chromosome 14, 23893268: 23893268
34 MYH7 NM_000257.3(MYH7): c.2770G> A (p.Glu924Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913628 GRCh38 Chromosome 14, 23424059: 23424059
35 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh37 Chromosome 14, 23895023: 23895023
36 MYH7 NM_000257.3(MYH7): c.2167C> T (p.Arg723Cys) single nucleotide variant Pathogenic rs121913630 GRCh38 Chromosome 14, 23425814: 23425814
37 MYH7 NM_000257.3(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh37 Chromosome 14, 23893316: 23893316
38 MYH7 NM_000257.3(MYH7): c.2722C> G (p.Leu908Val) single nucleotide variant Pathogenic rs121913631 GRCh38 Chromosome 14, 23424107: 23424107
39 MYH7 NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh37 Chromosome 14, 23894969: 23894969
40 MYH7 NM_000257.3(MYH7): c.2221G> C (p.Gly741Arg) single nucleotide variant Pathogenic rs121913632 GRCh38 Chromosome 14, 23425760: 23425760
41 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh37 Chromosome 14, 23898488: 23898488
42 MYH7 NM_000257.3(MYH7): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs3218714 GRCh38 Chromosome 14, 23429279: 23429279
43 MYH7 NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg) single nucleotide variant Pathogenic rs121913638 GRCh37 Chromosome 14, 23895189: 23895189
44 MYH7 NM_000257.3(MYH7): c.2146G> A (p.Gly716Arg) single nucleotide variant Pathogenic rs121913638 GRCh38 Chromosome 14, 23425980: 23425980
45 MYH7 NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121913641 GRCh37 Chromosome 14, 23895179: 23895179
46 MYH7 NM_000257.3(MYH7): c.2156G> A (p.Arg719Gln) single nucleotide variant Pathogenic rs121913641 GRCh38 Chromosome 14, 23425970: 23425970
47 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh37 Chromosome 14, 23884230: 23884230
48 MYH7 NM_000257.3(MYH7): c.5533C> T (p.Arg1845Trp) single nucleotide variant Pathogenic rs28933098 GRCh38 Chromosome 14, 23415021: 23415021
49 MYH7 NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys) single nucleotide variant Pathogenic rs121913651 GRCh37 Chromosome 14, 23897840: 23897840
50 MYH7 NM_000257.3(MYH7): c.1447G> A (p.Glu483Lys) single nucleotide variant Pathogenic rs121913651 GRCh38 Chromosome 14, 23428631: 23428631

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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 ACTC1 MYH6 MYH7 MYL2 MYL3 RYR2
2
Show member pathways
12.64 MYBPC3 MYH6 MYL2 MYL3 RYR2 TNNI3
3
Show member pathways
12.43 ACTC1 MYH6 MYH7 MYL2 MYL3
4 12.32 ACTC1 LMNA TNNI3 TNNT2 TPM1
5
Show member pathways
12.21 MYH6 MYH7 MYL2 MYL3
6
Show member pathways
12.21 ACTC1 LMNA MYBPC3 MYH6 MYH7 MYL2
7
Show member pathways
12.15 MYH6 MYH7 MYL2 MYL3
8 11.89 MYL2 MYL3 PRKAG2 RYR2
9 11.5 ACTC1 MYH6 MYH7 MYL2 MYL3 RYR2
10 11.46 MYH6 MYH7 PRKAG2
11 11.44 ACTC1 MYH6 MYL2 TNNI3 TNNT2
12 11.35 ACTC1 MYH6 MYH7 MYL2 MYL3
13 11.13 ACTC1 MYBPC3 MYH6 MYL2 MYL3 TNNI3
14 10.88 MYH7 MYL2

GO Terms for Hypertrophic Cardiomyopathy

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.8 CSRP3 MYBPC3 MYH6 MYH7 RYR2 TTN
2 stress fiber GO:0001725 9.69 MYH6 MYH7 TPM1
3 myosin complex GO:0016459 9.67 MYH6 MYH7 MYL2 MYL3
4 I band GO:0031674 9.65 ACTC1 MYL3 TTN
5 striated muscle thin filament GO:0005865 9.63 MYBPC3 TNNT2 TTN
6 myosin filament GO:0032982 9.61 MYBPC3 MYH6 MYH7
7 A band GO:0031672 9.58 MYBPC3 MYL2 MYL3
8 cardiac myofibril GO:0097512 9.56 MYBPC3 MYL2 TNNI3 TNNT2
9 muscle myosin complex GO:0005859 9.55 MYBPC3 MYH6 MYH7 MYL3 TTN
10 troponin complex GO:0005861 9.54 TNNI3 TNNT2
11 cardiac Troponin complex GO:1990584 9.49 TNNI3 TNNT2
12 myofibril GO:0030016 9.43 MYH6 MYH7 MYL2 TNNI3 TNNT2 TPM1
13 sarcomere GO:0030017 9.36 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 MYL2
14 cytosol GO:0005829 10.34 ACTC1 FHL1 LMNA MYBPC3 MYH6 MYL2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.93 ACTC1 CSRP3 MYBPC3 MYH6 MYH7 MYL2
2 muscle contraction GO:0006936 9.88 MYH6 MYH7 TNNI3 TNNT2 TPM1 TTN
3 actin filament organization GO:0007015 9.82 MYBPC3 TPM1 TTN
4 cellular calcium ion homeostasis GO:0006874 9.8 CSRP3 RYR2 TNNI3
5 sarcomere organization GO:0045214 9.77 MYBPC3 MYH6 TNNT2 TPM1 TTN
6 positive regulation of ATPase activity GO:0032781 9.76 MYBPC3 MYL3 TNNT2 TPM1
7 regulation of heart contraction GO:0008016 9.73 MYH6 TNNT2 TPM1
8 cardiac myofibril assembly GO:0055003 9.73 ACTC1 CSRP3 MYL2 TTN
9 regulation of heart rate GO:0002027 9.72 MYH6 MYH7 RYR2
10 striated muscle contraction GO:0006941 9.72 MYBPC3 MYH6 MYH7 TNNI3 TTN
11 skeletal muscle contraction GO:0003009 9.71 MYH7 TNNI3 TNNT2
12 regulation of muscle contraction GO:0006937 9.7 TNNI3 TNNT2 TPM1
13 heart contraction GO:0060047 9.69 ACTC1 MYL2 TNNI3
14 cardiac muscle hypertrophy GO:0003300 9.67 CSRP3 RYR2 TTN
15 regulation of striated muscle contraction GO:0006942 9.65 MYBPC3 MYL2 MYL3
16 regulation of the force of heart contraction GO:0002026 9.65 CSRP3 MYH6 MYH7 MYL2 MYL3
17 muscle filament sliding GO:0030049 9.65 ACTC1 MYBPC3 MYH6 MYH7 MYL2 MYL3
18 actin filament-based movement GO:0030048 9.64 ACTC1 MYH6
19 cardiac muscle tissue morphogenesis GO:0055008 9.63 ACTC1 TTN
20 adult heart development GO:0007512 9.62 MYH6 MYH7
21 cardiac muscle hypertrophy in response to stress GO:0014898 9.62 MYH6 MYH7
22 cardiac muscle fiber development GO:0048739 9.61 MYH6 TTN
23 negative regulation of ATPase activity GO:0032780 9.61 TNNI3 TNNT2
24 striated muscle myosin thick filament assembly GO:0071688 9.6 MYBPC3 TTN
25 skeletal muscle thin filament assembly GO:0030240 9.59 ACTC1 TTN
26 regulation of cardiac muscle contraction by calcium ion signaling GO:0010882 9.58 RYR2 TNNI3
27 positive regulation of the force of heart contraction GO:0098735 9.58 MYL2 RYR2
28 detection of muscle stretch GO:0035995 9.57 CSRP3 TTN
29 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.23 MYBPC3 MYH6 MYH7 MYL2 MYL3 TNNI3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.85 MYH6 PRKAG2 RYR2 TNNI3 TTN
2 calcium ion binding GO:0005509 9.8 CALR3 MYL2 MYL3 RYR2 TNNT2 TTN
3 calmodulin binding GO:0005516 9.73 MYH6 MYH7 RYR2 TTN
4 motor activity GO:0003774 9.7 MYH6 MYH7 MYL3
5 actin binding GO:0003779 9.7 CSRP3 MYBPC3 MYH6 MYH7 TNNI3 TNNT2
6 microfilament motor activity GO:0000146 9.55 MYH6 MYH7
7 muscle alpha-actinin binding GO:0051371 9.54 MYBPC3 TTN
8 structural molecule activity conferring elasticity GO:0097493 9.51 MYBPC3 TTN
9 actin-dependent ATPase activity GO:0030898 9.49 MYH6 MYH7
10 actinin binding GO:0042805 9.48 CSRP3 TTN
11 actin filament binding GO:0051015 9.43 MYBPC3 MYH6 MYH7 TNNI3 TPM1 TTN
12 myosin heavy chain binding GO:0032036 9.4 MYBPC3 MYL2
13 telethonin binding GO:0031433 9.37 CSRP3 TTN
14 troponin C binding GO:0030172 9.26 TNNI3 TNNT2
15 structural constituent of muscle GO:0008307 9.1 CSRP3 MYBPC3 MYL2 MYL3 TPM1 TTN

Sources for Hypertrophic Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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