Cardiomyopathy, Familial Hypertrophic, 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CMH1 MCID: CRD086 MIFTS: 73	Cardiomyopathy, Familial Hypertrophic, 1 (CMH1) Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 1

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 1:

Name: Cardiomyopathy, Familial Hypertrophic, 1 ⁵⁷ ¹² ⁷¹

Familial Hypertrophic Cardiomyopathy ¹¹ ¹⁹ ⁴² ⁷³ ¹⁴

Asymmetric Septal Hypertrophy ⁵⁷ ⁷⁵ ⁷³ ⁵ ⁷¹

Hypertrophic Cardiomyopathy 1 ¹¹ ²⁸ ⁵ ¹⁴

Hypertrophic Cardiomyopathy 19 ¹¹ ²⁸ ⁵

Cmh1 ⁵⁷ ¹¹ ⁷³

Hypertrophic Subaortic Stenosis, Idiopathic ⁵⁷ ⁷³

Cardiomyopathy, Hypertrophic, 1, Digenic ⁵⁷ ²⁸

Cardiomyopathy, Familial Hypertrophic 1 ¹¹ ⁷³

Cardiomyopathy, Hypertrophic, Familial ⁴³ ⁷¹

Cardiomyopathy, Familial Hypertrophic ⁵⁷ ⁷³

Ventricular Hypertrophy, Hereditary ⁵⁷ ⁷³

Hereditary Ventricular Hypertrophy ⁴² ⁵

Hypertrophic Cardiomyopathy ⁷³ ⁷¹

Cmh ⁵⁷ ⁷³

Ash ⁵⁷ ⁷³

Hcm ⁴² ⁷³

Cardiomyopathy, Hypertrophic, Familial, Type 1 ³⁸

Idiopathic Hypertrophic Subaortic Stenosis ⁴²

Familial Asymmetric Septal Hypertrophy ⁴²

Heritable Hypertrophic Cardiomyopathy ⁴²

Cardiomyopathy, Hypertrophic, 1 ⁵⁷

Fhc ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
digenic form caused by heterozygous mutations in the mylk2 and myh7 genes

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Cardiovascular diseases Muscle diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0080326 DOID:0110307

OMIM® ⁵⁷ 192600

OMIM Phenotypic Series ⁵⁷ PS192600

MeSH ⁴³ D024741

NCIt ⁴⁹ C84773

SNOMED-CT ⁶⁸ 83978005

MedGen ⁴⁰ C0205700 C0597124 C0700053 more

SNOMED-CT via HPO ⁶⁹ 102594003 204368006 26636000 more

UMLS ⁷¹ C0007194 C0205700 C0949658 more

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Summaries for Cardiomyopathy, Familial Hypertrophic, 1

MedlinePlus Genetics: ⁴² 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.The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting.While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation.

MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 1, also known as familial hypertrophic cardiomyopathy, is related to cardiomyopathy, familial hypertrophic, 11 and cardiomyopathy, familial hypertrophic, 25. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 1 is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Sweet Taste Signaling and Actin Nucleation by ARP-WASP Complex. The drugs Spironolactone and Ranolazine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and brain, and related phenotypes are congestive heart failure and arrhythmia

UniProtKB/Swiss-Prot ⁷³ Cardiomyopathy, familial hypertrophic: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Cardiomyopathy, familial hypertrophic 1: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

OMIM®: ⁵⁷ Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. (192600) (Updated 08-Dec-2022)

Disease Ontology ¹¹ Familial hypertrophic cardiomyopathy: A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has material basis in autosomal dominant inheritance of one or more gene mutations.

Hypertrophic cardiomyopathy 1: A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYH7 gene on chromosome 14q12.

Wikipedia: ⁷⁵ Hypertrophic cardiomyopathy (HCM, or HOCM when obstructive) is a condition in which the heart becomes... more...

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Related Diseases for Cardiomyopathy, Familial Hypertrophic, 1

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	Cardiomyopathy, Familial Hypertrophic, 28
Rare Hypertrophic Cardiomyopathy	Rare Familial Disorder with Hypertrophic Cardiomyopathy

Diseases related to Cardiomyopathy, Familial Hypertrophic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1177)

#	Related Disease	Score	Top Affiliating Genes
1	cardiomyopathy, familial hypertrophic, 11	33.1	GJD2-DT ACTC1
2	cardiomyopathy, familial hypertrophic, 25	33.0	TPM1 TCAP MYBPC3
3	noonan syndrome with multiple lentigines	32.9	TNNT2 RAF1 MYH7 MYH6 MYBPC3
4	barth syndrome	32.7	TNNT2 MYH7 MYH6 MYBPC3 LMNA ACTC1
5	mitochondrial dna depletion syndrome 12b	32.4	MYH7 MYH6 MYBPC3
6	cardiac arrest	32.0	TNNT2 TNNI3 MYH7
7	hypertensive heart disease	31.9	TNNT2 TNNI3 MYH7 MYH6
8	rasopathy	31.8	TPM1 TNNT2 TNNI3 RAF1 MYL3 MYL2
9	aortic valve disease 2	31.7	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
10	brugada syndrome	31.7	TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
11	left bundle branch hemiblock	31.7	TNNT2 TNNI3 MYBPC3 LMNA
12	arrhythmogenic right ventricular cardiomyopathy	31.7	TPM1 TNNT2 TNNI3 MYL3 MYH7 MYH6
13	atrial heart septal defect	31.6	TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
14	hypertrophic cardiomyopathy	31.6	TPM1 TNNT2 TNNI3 TCAP RAF1 MYLK2
15	neuromuscular disease	31.5	TCAP MYH7 MYH6 LMNA CAV3
16	heart disease	31.4	TNNT2 TNNI3 MYL2 MYH7 MYH6 MYBPC3
17	heart valve disease	31.4	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
18	systolic heart failure	31.4	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
19	myocarditis	31.4	TNNT2 TNNI3 MYH7 MYH6 LMNA
20	amyloidosis, hereditary, transthyretin-related	31.4	TNNT2 MYBPC3 GLA
21	acute myocardial infarction	31.4	TNNT2 TNNI3 MYL3 MHRT
22	lipoprotein quantitative trait locus	31.3	TNNT2 TNNI3 MYH7 MYH6 MYBPC3 LMNA
23	patent ductus arteriosus 1	31.3	TNNT2 MYH7 MYH6 MYBPC3 ACTC1
24	atrial standstill 1	31.2	MYH7 MYBPC3 LMNA
25	danon disease	31.2	TNNT2 MYL3 MYH7 MYH6 MYBPC3 GLA
26	mitral valve insufficiency	31.2	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
27	congestive heart failure	31.2	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
28	long qt syndrome	31.1	TNNT2 TNNI3 OXTR MYL3 MYL2 MYH7
29	constrictive pericarditis	31.1	TNNT2 TNNI3 MYBPC3
30	noonan syndrome 1	31.1	RAF1 MYH7 MYH6 MYBPC3 ACTC1
31	cardiac conduction defect	31.1	MYH7 MYH6 MYBPC3 LMNA
32	cardiomyopathy, dilated, 1m	31.1	TNNI3 TCAP MYL2
33	endomyocardial fibrosis	31.1	MYH7 MYBPC3 ACTC1
34	myopathy, distal, 1	31.1	MYL3 MYL2 MYH7 MYH6 MYBPC3 MHRT
35	first-degree atrioventricular block	31.1	TNNI3 LMNA
36	cardiomyopathy, dilated, 1e	31.1	TPM1 MYL2 MYH7 MYH6 MHRT LMNA
37	dextrocardia	31.1	TNNT2 MYH7 ACTC1
38	myopathy	31.0	TPM1 TNNT2 TNNI3 TCAP MYL2 MYH7
39	third-degree atrioventricular block	31.0	TNNI3 MYH6 LMNA
40	patent foramen ovale	31.0	TNNT2 TNNI3 MYH7 MYH6 MYBPC3 ACTC1
41	wolff-parkinson-white syndrome	31.0	TNNT2 MYH7 MYH6 MYBPC3 MHRT GJD2-DT
42	tetralogy of fallot	31.0	TPM1 TNNT2 TNNI3 MYL3 MYH7 MYH6
43	left ventricular noncompaction	31.0	TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
44	mitral valve disease	30.9	TNNT2 TNNI3 MYH7 MYH6 MYBPC3
45	long qt syndrome 1	30.9	TNNT2 OXTR MYL2 MYH7 MYH6 MYBPC3
46	miyoshi muscular dystrophy	30.9	TCAP MYH7 MYH6 CAV3
47	heart septal defect	30.9	TNNT2 MYH7 MYH6 ACTC1
48	dilated cardiomyopathy	30.9	TPM1 TNNT2 TNNI3 TCAP RAF1 MYL3
49	restrictive cardiomyopathy	30.9	TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
50	atrioventricular block	30.9	TNNT2 TNNI3 MYH6 LMNA

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Hypertrophic, 1:

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Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 1

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

³⁰

#	Description	HPO Source Accession
1	congestive heart failure ³⁰	HP:0001635
2	arrhythmia ³⁰	HP:0011675
3	subvalvular aortic stenosis ³⁰	HP:0001682
4	sudden death ³⁰	HP:0001699
5	asymmetric septal hypertrophy ³⁰	HP:0001670

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiovascular Heart:
congestive heart failure
hypertrophic cardiomyopathy
arrhythmia
sudden death
asymmetric septal hypertrophy
more

Clinical features from OMIM®:

192600 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cardiomyopathy, Familial Hypertrophic, 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	10	ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
2	normal	MP:0002873	9.86	ACTC1 LMNA MYH7 MYL2 OXTR RAF1
3	homeostasis/metabolism	MP:0005376	9.8	ACTC1 CAV3 GLA LMNA MYBPC3 MYH6
4	cardiovascular system	MP:0005385	9.47	ACTC1 CAV3 GLA LMNA MYBPC3 MYH6

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Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 1

Drugs for Cardiomyopathy, Familial Hypertrophic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 84)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Spironolactone

Approved

Phase 4

1952-01-7, 52-01-7

5833

Ranolazine

Approved, Investigational

Phase 4

142387-99-3, 95635-55-5

56959

Ethanol

Approved

Phase 4

64-17-5

702

Metoprolol

Approved, Investigational

Phase 4

37350-58-6, 51384-51-1

4171

Verapamil

Approved

Phase 4

152-11-4, 52-53-9

2520

Bisoprolol

Approved

Phase 4

66722-44-9

2405

Dobutamine

Approved

Phase 4

34368-04-2

36811

Adenosine

Approved, Investigational

Phase 4

58-61-7

60961

Regadenoson

Approved, Investigational

Phase 4

313348-27-5

22451303 219024

(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium

Experimental

Phase 4

461-06-3

Hormones

Phase 4

Hormone Antagonists

Phase 4

Diuretics, Potassium Sparing

Phase 4

Mineralocorticoids

Phase 4

Mineralocorticoid Receptor Antagonists

Phase 4

Sodium Channel Blockers

Phase 4

Adrenergic beta-Antagonists

Phase 4

Adrenergic beta-1 Receptor Antagonists

Phase 4

Adrenergic Antagonists

Phase 4

Antihypertensive Agents

Phase 4

Sympatholytics

Phase 4

Adrenergic Agents

Phase 4

Cardiotonic Agents

Phase 4

Adrenergic beta-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Sympathomimetics

Phase 4

Protective Agents

Phase 4

Vasodilator Agents

Phase 4

Neurotransmitter Agents

Phase 4

Anti-Arrhythmia Agents

Phase 4

Analgesics

Phase 4

Valsartan

Approved, Investigational

Phase 2, Phase 3

137862-53-4

60846

Angiotensin II

Approved, Investigational

Phase 2, Phase 3

68521-88-0, 11128-99-7, 4474-91-3

172198

Amiodarone

Approved, Investigational

Phase 3

1951-25-3

2157

Diltiazem

Approved, Investigational

Phase 2, Phase 3

42399-41-7

39186

Atorvastatin

Approved

Phase 3

134523-00-5

60823

Empagliflozin

Approved

Phase 3

864070-44-0

73151030 11949646

Angiotensinogen

Phase 2, Phase 3

16133225

Angiotensin Receptor Antagonists

Phase 2, Phase 3

Angiotensin II Type 1 Receptor Blockers

Phase 2, Phase 3

Giapreza

Phase 2, Phase 3

Sacubitril and valsartan sodium hydrate drug combination

Phase 2, Phase 3

Antimetabolites

Phase 3

Hypolipidemic Agents

Phase 3

Anticholesteremic Agents

Phase 3

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 3

Lipid Regulating Agents

Phase 3

Sodium-Glucose Transporter 2 Inhibitors

Phase 3

Hypoglycemic Agents

Phase 3

Trimetazidine

Approved, Investigational

Phase 2

5011-34-7

21109

Interventional clinical trials:

(show top 50) (show all 174)

#	Name	Status	NCT ID	Phase	Drugs
1	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
2	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy-- a Multicenter Randomized Control Trial	Unknown status	NCT02948998	Phase 4	Spironolactone
3	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy	Completed	NCT00879060	Phase 4	Spironolactone;Placebo
4	Ranolazine for the Treatment of Angina in Hypertrophic Cardiomyopathy Investigation	Completed	NCT01721967	Phase 4	Ranolazine
5	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy	Recruiting	NCT04133532	Phase 4	Metoprolol
6	Treatment Effects of Bisoprolol and Verapamil in Symptomatic Patients With Non-obstructive Hypertrophic Cardiomyopathy	Recruiting	NCT05569382	Phase 4	Verapamil;Bisoprolol;Placebo
7	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
8	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve	Terminated	NCT03249272	Phase 4	Regadenoson;Adenosine
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	Treatment of Preclinical Hypertrophic Cardiomyopathy With Diltiazem	Completed	NCT00319982	Phase 2, Phase 3	Diltiazem;Placebo
12	A Randomized, Double Blind, Placebo Controlled Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy	Completed	NCT03470545	Phase 3	mavacamten;Placebo
13	Clinical and Genetic Determinants of Disease Progression and Response to Lifestyle and Pharmacological Interventions in Patients With Hypertrophic Cardiomyopathy	Completed	NCT05366101	Phase 2, Phase 3	Sacubitril/Valsartan
14	Statin Induced Regression of Cardiomyopathy Trial - SirCat	Completed	NCT00317967	Phase 3	Atorvastatin;Placebo
15	A Phase 3, Multi-Center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Efficacy and Safety of CK-3773274 in Adults With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction	Recruiting	NCT05186818	Phase 3	CK-3773274 (5 mg, 10 mg, 15 mg and 20 mg);Placebo to match CK-3773274
16	A Phase III, Randomized, Double-blinded, Placebo-controlled Clinical Study With A Long-term Extension to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy	Recruiting	NCT05174416	Phase 3	Mavacamten;Placebo
17	A Phase 3, Open-label, Single Arm, Clinical Study to Evaluate Efficacy, Safety and Tolerability of Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy	Recruiting	NCT05414175	Phase 3	Mavacamten
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)	Active, not recruiting	NCT03723655	Phase 2, Phase 3	mavacamten
19	A Randomized, Double-blind, Placebo-controlled Study to Evaluate Mavacamten in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Who Are Eligible for Septal Reduction Therapy	Active, not recruiting	NCT04349072	Phase 3	Mavacamten;Placebo
20	A Randomized, Double-blind, Placebo-controlled Clinical Study to Evaluate Mavacamten in Adults With Symptomatic Non-obstructive Hypertrophic Cardiomyopathy	Not yet recruiting	NCT05582395	Phase 3	Mavacamten
21	The Use of Empagliflozin in Patients With Hypertrophic Cardiomyopathy	Not yet recruiting	NCT05182658	Phase 3	Empagliflozin 10 MG;Placebo
22	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
23	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
24	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
25	CArdiac Desynchronization In Obstructive Hypertrophic CardioMyopathy	Unknown status	NCT01332162	Phase 2
26	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
27	Clinical and Genetic Determinants of Disease Progression and Response to Sacubitril/Valsartan vs Lifestyle (Physical Activity and Dietary Nitrate) in Patients With Hypertrophic Cardiomyopathy	Completed	NCT03832660	Phase 2	Sacubitril/Valsartan
28	Hypertrophic Cardiomyopathy Symptom Release by BX1514M	Completed	NCT02590809	Phase 2	Treatment BX1514M;Placebo
29	Metabolic Alteration With Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy (METAL-HCM Study)	Completed	NCT00500552	Phase 2	Perhexiline/Placebo
30	Controlled Cross-Over Study of DDD Pacemaker Therapy in Symptomatic Children With Obstructive Hypertrophic Cardiomyopathy	Completed	NCT00001960	Phase 2
31	Trans-Right Ventricular Approach to Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Feasibility Study	Completed	NCT00035386	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	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
34	A Pilot Study Assessing the Effects of Ranolazine on Coronary Microvascular Dysfunction in Patients With Hypertrophic Cardiomyopathy	Completed	NCT03953989	Phase 2	Ranolazine PR (prolonged-release) 500 mg 1 tablet bis in die and 750 mg 1 tablet bis in die
35	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
36	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
37	Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy	Completed	NCT01150461	Phase 2	losartan;placebo
38	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	Completed	NCT03442764	Phase 2	mavacamten;Placebo
39	Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM	Completed	NCT01912534	Phase 2	Valsartan;Placebo
40	Study of Myocardial Perfusion by MRI	Completed	NCT00001631	Phase 2
41	The Effect of Metoprolol on Myocardial Function, Perfusion, Hemodynamics and Heart Failure Symptoms in Patients With Hypertrophic Obstructive Cardiomyopathy.	Completed	NCT03532802	Phase 2	Metoprolol Succinate;Placebo oral capsule
42	A Randomised, Double-blind, Placebo-controlled, Phase 2 Evaluation of the Efficacy and Mechanism of Trientine in Patients With Hypertrophic Cardiomyopathy	Recruiting	NCT04706429	Phase 2	Trientine;Placebo
43	A Randomized, Double-Blinded, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of IMB-1018972 in Patients With Non-obstructive Hypertrophic Cardiomyopathy	Recruiting	NCT04826185	Phase 2	IMB-1018972;Placebo
44	Randomised Controlled Trial of pErhexiline on regreSsion Of Left Ventricular hypErtrophy (LVH) in Patients With Symptomatic Hypertrophic CardioMyopathy (RESOLVE-HCM)	Recruiting	NCT04426578	Phase 2	Perhexiline
45	A Multi-Center, Randomized, Double-blind, Placebo-controlled, Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Symptomatic Hypertrophic Cardiomyopathy	Active, not recruiting	NCT04219826	Phase 2	CK-3773274 (5 - 15 mg);CK-3773274 (10 - 30 mg);Placebo for CK-3773274
46	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)	Active, not recruiting	NCT04164732	Phase 2	LCZ696;Placebo
47	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
48	An Open-Label Study of CK-3773274 for Patients With Symptomatic Hypertrophic Cardiomyopathy (HCM)	Enrolling by invitation	NCT04848506	Phase 2	CK-3773274 (5 - 20 mg)
49	A Phase 2a, Open-label, Pilot Study to Evaluate Efficacy, Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of MYK-224 in Participants With Symptomatic Hypertrophic Cardiomyopathy and Left Ventricular Outflow Tract Obstruction	Not yet recruiting	NCT05556343	Phase 2	MYK-224
50	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

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 1

Cochrane evidence based reviews: cardiomyopathy, hypertrophic, familial

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 1

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 1:

#	Genetic test	Affiliating Genes
1	Hypertrophic Cardiomyopathy 1 ²⁸	CAV3 MYH6 MYH7 MYLK2
2	Hypertrophic Cardiomyopathy 19 ²⁸
3	Cardiomyopathy, Hypertrophic, 1, Digenic ²⁸

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 1

Organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 1:

MalaCards : Heart, Skeletal Muscle, Brain, Endothelial, Cardiac Myocytes, Liver, Bone Marrow

ODiseA: Heart-Ventricle, Heart

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Publications for Cardiomyopathy, Familial Hypertrophic, 1

Articles related to Cardiomyopathy, Familial Hypertrophic, 1:

(show top 50) (show all 16181)

#	Title	Authors	PMID	Year
1	Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. ⁶² ⁵⁷ ⁵	Das K J...Semsarian C	24113344	2014
2	Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations. ⁶² ⁵⁷ ⁵	Frazier A...Murphy AM	18175163	2008
3	Mutations in sarcomere protein genes in left ventricular noncompaction. ⁶² ⁵⁷ ⁵	Klaassen S...Thierfelder L	18506004	2008
4	Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Matsushita Y...Matsuoka R	17476457	2007
5	Gene mutations in apical hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Arad M...Seidman CE	16267253	2005
6	Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. ⁶² ⁵⁷ ⁵	Ingles J...Semsarian C	16199542	2005
7	Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Van Driest SL...Ackerman MJ	15519027	2004
8	Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Erdmann J...Regitz-Zagrosek V	12974739	2003
9	Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. ⁶² ⁵⁷ ⁵	Richard P...EUROGENE Heart Failure Project	12707239	2003
10	Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Ho CY...Solomon SD	12081993	2002
11	Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Blair E...Watkins H	11424919	2001
12	Temporal repolarization lability in hypertrophic cardiomyopathy caused by beta-myosin heavy-chain gene mutations. ⁶² ⁵⁷ ⁵	Atiga WL...Berger RD	10725281	2000
13	Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Richard P...Hainque B	10424815	1999
14	A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. ⁶² ⁵⁷ ⁵	Jeschke B...Vosberg HP	9544842	1998
15	Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Abchee A...Marian AJ	9154300	1997
16	[Demonstration of a fifth locus implicated in familial hypertrophic cardiomyopathies]. ⁶² ⁵⁷ ⁵	Hengstenberg C...Dubourg O	7786104	1994
17	Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Fananapazir L...Epstein ND	8483915	1993
18	Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. ⁶² ⁵⁷ ⁵	Watkins H...Seidman JG	1552912	1992
19	Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. ⁶² ⁵⁷ ⁵	Rosenzweig A...Seidman CE	1944483	1991
20	Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease. ⁶² ⁵⁷ ⁵	Solomon SD...Seidman CE	1975599	1990
21	A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. ⁶² ⁵⁷ ⁵	Geisterfer-Lowrance AA...Seidman JG	1975517	1990
22	Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. ⁵⁷ ⁵	Uro-Coste E...Delisle MB	19138847	2009
23	Two brothers with unexplained cardiomegaly Initial clues to the molecular basis of a hereditary cardiac disease. ⁵⁷ ⁵	Ross RS...Knowlton KU	21239280	1992
24	Hereditary cardiovascular dysplasia. A form of familial cardiomyopathy. ⁵⁷ ⁵	PARE JA...STUBINGTON D	13732753	1961
25	Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males. ⁶² ⁵	Mendez I...Bermejo J	34588271	2021
26	Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs. ⁶² ⁵	Al-Shafai KN...Estivill X	34137518	2021
27	Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy. ⁶² ⁵	Chung H...Lee KA	32380161	2020
28	Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy. ⁶² ⁵	Harper AR...HCMR Investigators	32163302	2020
29	Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a 'false genotype-negative' family with hypertrophic cardiomyopathy. ⁶² ⁵	Gomes AC...Lopes LR	32451163	2020
30	Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. ⁶² ⁵	Robyns T...Willems R	31513939	2020
31	Defining genotype-phenotype relationships in patients with hypertrophic cardiomyopathy using cardiovascular magnetic resonance imaging. ⁶² ⁵	Miller RJH...Yang PC	31199839	2019
32	Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction. ⁶² ⁵	Inagaki N...Kimura A	30206291	2018
33	Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy. ⁶² ⁵⁷	Verhagen JMA...van de Laar IMBH	29988065	2018
34	Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). ⁶² ⁵	Ho CY...Olivotto I	30297972	2018
35	Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy. ⁶² ⁵	Mak TSH...Tse HF	30022097	2018
36	Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing. ⁶² ⁵	Teramoto R...Kawashiri MA	29398688	2018
37	Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup. ⁶² ⁵	Ko C...Helms AS	28640247	2018
38	Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy. ⁶² ⁵	Ross SB...Semsarian C	28615295	2017
39	Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients. ⁶² ⁵	Gomez J...Coto E	28356264	2017
40	Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect. ⁶² ⁵	Fourey D...Adler A	28420666	2017
41	Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. ⁶² ⁵	Alejandra Restrepo-Cordoba M...Garcia-Pavia P	28138913	2017
42	Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy. ⁶² ⁵	Mendes de Almeida R...Lopes LR	28797094	2017
43	MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy. ⁶² ⁵	McNamara JW...Dos Remedios CG	28658286	2017
44	Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. ⁶² ⁵	Viswanathan SK...Sadayappan S	29121657	2017
45	Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. ⁶² ⁵	Mademont-Soler I...Brugada R	28771489	2017
46	Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy. ⁶² ⁵	Helms AS...Day SM	27688314	2016
47	Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue. ⁶² ⁵	Wijnker PJ...Carrier L	27108529	2016
48	A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. ⁶² ⁵	Rubattu S...Chessa L	27483260	2016
49	Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation. ⁶² ⁵	Homburger JR...Ashley EA	27247418	2016
50	Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. ⁶² ⁵	Zhao Y...Xia X	27082122	2016

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Genes for Cardiomyopathy, Familial Hypertrophic, 1

Genes related to Cardiomyopathy, Familial Hypertrophic, 1 (24 elite genes):

(show top 50) (show all 130)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MYH7	Myosin Heavy Chain 7	Protein Coding	1346.8	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Disorders (show sections)	1361491 1423936 1430197 (more) 1552912 1634614 1638703 1739523 1944483 1975517 1975599 2249844 4104682 7546620 7612980 7662452 7713108 7731997 7786104 7788887 7789380 7796500 7815466 7848420 7848441 7874131 7883988 7909436 7994801 8180512 8194835 8196066 8250038 8254035 8268932 8281650 8282798 8335820 8343162 8375803 8435239 8483915 8514894 8533830 8541871 8614836 8655135 8788376 8898372 8981935 9001794 9105042 9140839 9154300 9172070 9202846 9503187 9541509 9544842 9742053 9822100 9826622 9829907 9835779 10024460 10065021 10086390 10328076 10424815 10521296 10606622 10662815 10725281 10750581 10764406 10862102 10874840 10882745 10957787 11133230 11186938 11227787 11377367 11424919 11433818 11498078 11861410 11861413 11904418 12081993 12084606 12117842 12473556 12566107 12601548 12707239 12818575 12820698 12881443 12951062 12974739 12975413 13732753 14563299 15000344 15136674 15358028 15483641 15519027 15528230 15556047 15563892 15856146 15858117 16199542 16267253 16352453 16504640 16630449 16650083 16684601 16858239 16918501 17019812 17125710 17351073 17476457 17703256 17987111 18076673 18175163 18258667 18374998 18383048 18403758 18409188 18411228 18414213 18533079 18565996 18761664 19138847 19149795 19150014 19336582 19645038 19651039 19808356 20031618 20075948 20298698 20350521 20359594 20378854 20394946 20428263 20624503 20738943 20800588 20819418 21239280 21239446 21252143 21310275 21511876 21642240 21674835 21769673 21835320 21959974 22112859 22213221 22260945 22429680 22455086 22735528 22763267 22765922 22857948 23054336 23233322 23271734 23283745 23290139 23299917 23349452 23396983 23549607 23580644 23674513 23690394 23711808 23712688 23751935 23782526 23798412 23816408 24033266 24093860 24268868 24298987 24510615 24793961 24829265 24888384 24928957 25078086 25132132 25342278 25524337 25611685 25935763 26332594 27082122 27247418 27532257 28606303 28611029 28615295 28640247 29121657 29300372 30022097 30206291 30297972 30623132 31112422 31333075 31513939 31568572 35535697 9874056 11113006 11196015 12749056 12953063 15008060 15550524 16938236 17097032 18506004 19666645 20646679 20865685 21302287 21576279 21750094 23785128 23861362 24111713 25086479 25351510 25558701 25741868 27066506 27788187 28420666 29398688 32380161
2	CAV3	Caveolin 3	Protein Coding	1334.89	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	15580566 14672715
3	MYLK2	Myosin Light Chain Kinase 2	Protein Coding	905.74	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁸ DISEASES inferred ¹⁴
4	MYH6	Myosin Heavy Chain 6	Protein Coding	513.77	Pathogenic ⁵ Genetic Tests ²⁸ DISEASES inferred ¹⁴ ¹⁴	16858239 20359594 21835320 (more) 23674513 20031618 21302287 20173211
5	TPM1	Tropomyosin 1	Protein Coding	435.99	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	7729014 7898523 8523464 (more) 9822100 11606294 12860912 14734051 20031602 21551322 23771913 18403758 23204897 23700264
6	TNNT2	Troponin T2, Cardiac Type	Protein Coding	435.83	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	8951566 9060892 10521296 (more) 10978365 11346248 11560853 11606294 12860912 22112859 23711808 12974739 15958377 20057144 9154300 20031601 25611685 23283745
7	MT-TI	Mitochondrially Encoded TRNA-Ile (AUU/C)	RNA Gene	433.13	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴	8889580 12767666
8	MYBPC3	Myosin Binding Protein C3	Protein Coding	433.1	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	2073894 7493025 7493026 (more) 9048664 9241277 9503187 9541104 9562578 9631872 9742053 10610770 11499718 11499719 12110947 12117842 12202917 12707239 12818575 12951062 12974739 14563344 15000344 15114369 15166115 15519027 15563892 15769446 16141195 16199542 16679492 16715312 16831826 16858239 18258667 18273486 18400036 18403758 18409188 18533079 18761664 18809796 18957093 19150014 19273718 19574547 19659763 20019025 20031618 20359594 20378854 20433692 20474083 20505798 20624503 20800588 20818890 21088121 21239446 21302287 21415409 21551322 21750094 21839045 21985754 22057632 22115648 22267749 22462493 22555271 22563033 22569109 22765922 22857948 22907696 23054336 23074333 23140321 23283745 23299917 23396983 23549607 23590259 23690394 23782526 23861362 24093860 24111713 24113344 24510615 24704860 24774285 24793961 24810389 24835277 24888384 25031304 25037680 25058872 25342278 25524337 25611685 25740977 26090888 26914223 27532257 27688314 28087566 28138913 28615295 28679633 28797094 29121657 29212898 30297972 30847666 31199839 31333075 31568572 32163302 32451163 32659924 34137518 34588271 11815426 19808356 20031602 21817903 21835320 23508784 27108529 27483260
9	MYL2	Myosin Light Chain 2	Protein Coding	432.18	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9535554 12404107
10	TNNI3	Troponin I3, Cardiac Type	Protein Coding	432.13	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9241277 12707239 12860912 (more) 15201162 15524171 15607392 15631686 15698845 16199542 16335287 19645627 22876777 23283745 26506446 27532257 12531876 23540544
11	MYL3	Myosin Light Chain 3	Protein Coding	431.85	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	12021217 18409188 21823217 (more) 22131351 23283745 25910212 27532257 28356264 28658286 28771489 30297972 30706179 31199839
12	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	431.64	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	16267253 17916152 18801786 (more) 17623677 18519860 20497191 19467449 14729850 12860912 17611253 10966831 15058760 18400036 19184181 20965760 21297463 18379140 21524215 21551322 18506004 16611632 17947298
13	MYH7B	Myosin Heavy Chain 7B	Protein Coding	431	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
14	TCAP	Titin-Cap	Protein Coding	430.56	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	9536098 10655062 17576681 (more) 21530252 23479141 24037902 25055047 25298746 26084686 27066551 27532257 29797799 32005491 32761539
15	LMNA	Lamin A/C	Protein Coding	429.94	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴	16585054 16407522 24503780
16	GLA	Galactosidase Alpha	Protein Coding	428.74	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
17	GJD2-DT	GJD2 Divergent Transcript	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	16267253 17916152 18801786 (more) 17623677 18519860 20497191 19467449 14729850 12860912 17611253 10966831 15058760 18400036 19184181 20965760 21297463 18379140 21524215 21551322 18506004 16611632 17947298
18	MHRT	Myosin Heavy Chain Associated RNA Transcript	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	15483641 18403758 21511876 (more) 23785128
19	OXTR	Oxytocin Receptor	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	15580566 14672715
20	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	17603482 17603483
21	RPL36A-HNRNPH2	RPL36A-HNRNPH2 Readthrough	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵
22	PRKAG2	Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2	Protein Coding	409.3	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
23	MT-TG	Mitochondrially Encoded TRNA-Gly (GGN)	RNA Gene	400	Pathogenic ⁵	8079988 7459150
24	CMH21	Cardiomyopathy, Familial Hypertrophic, 21	Genetic Locus	50	MalaCards inferred ³⁹
25	ACTN2	Actinin Alpha 2	Protein Coding	33.29	Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴
26	JPH2	Junctophilin 2	Protein Coding	30.36	Likely pathogenic ⁵ DISEASES inferred ¹⁴
27	FLNC	Filamin C	Protein Coding	30.31	Likely pathogenic ⁵ DISEASES inferred ¹⁴
28	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	30.19	Likely pathogenic ⁵ DISEASES inferred ¹⁴
29	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	29.25	Likely pathogenic ⁵ DISEASES inferred ¹⁴	26253506
30	LAMP2	Lysosomal Associated Membrane Protein 2	Protein Coding	29.25	Likely pathogenic ⁵ DISEASES inferred ¹⁴
31	DES	Desmin	Protein Coding	25	Likely pathogenic ⁵	17221859 20423733 23349452 (more) 22106715 22153487
32	FHL1	Four And A Half LIM Domains 1	Protein Coding	25	Likely pathogenic ⁵
33	FLNC-AS1	FLNC Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵
34	LOC114827850	VISTA Enhancer Hs2149	Functional Element	25	Likely pathogenic ⁵
35	TTN	Titin	Protein Coding	11.32	DISEASES inferred ¹⁴ ¹⁴
36	MYL12A	Myosin Light Chain 12A	Protein Coding	11.28	DISEASES inferred ¹⁴ ¹⁴
37	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	10.42	DISEASES inferred ¹⁴ ¹⁴
38	RMDN2	Regulator Of Microtubule Dynamics 2	Protein Coding	10.16	DISEASES inferred ¹⁴ ¹⁴
39	LRRC39	Leucine Rich Repeat Containing 39	Protein Coding	9.72	DISEASES inferred ¹⁴ ¹⁴
40	MYBPC2	Myosin Binding Protein C2	Protein Coding	9.43	DISEASES inferred ¹⁴ ¹⁴
41	MYBPC1	Myosin Binding Protein C1	Protein Coding	9.37	DISEASES inferred ¹⁴ ¹⁴
42	SMTNL1	Smoothelin Like 1	Protein Coding	9.32	DISEASES inferred ¹⁴ ¹⁴
43	MYL7	Myosin Light Chain 7	Protein Coding	8.82	DISEASES inferred ¹⁴ ¹⁴
44	PRR25	Proline Rich 25	Protein Coding	8.75	DISEASES inferred ¹⁴ ¹⁴
45	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	8.52	DISEASES inferred ¹⁴ ¹⁴
46	CRACR2B	Calcium Release Activated Channel Regulator 2B	Protein Coding	8.47	DISEASES inferred ¹⁴ ¹⁴
47	DMD	Dystrophin	Protein Coding	8.36	DISEASES inferred ¹⁴ ¹⁴
48	MYPN	Myopalladin	Protein Coding	8.23	DISEASES inferred ¹⁴ ¹⁴
49	NEB	Nebulin	Protein Coding	8.05	DISEASES inferred ¹⁴ ¹⁴
50	VPREB1	V-Set Pre-B Cell Surrogate Light Chain 1	Protein Coding	7.89	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Cardiomyopathy, Familial Hypertrophic, 1

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

⁵ (show top 50) (show all 2445)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MYH7B	NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs)	MICROSAT	Pathogenic	638682	rs764950910	GRCh37: 20:33570339-33570340 GRCh38: 20:34982536-34982537
2	MYH7B	NM_020884.7(MYH7B):c.624+1G>A	SNV	Pathogenic	638683	rs1050997719	GRCh37: 20:33570359-33570359 GRCh38: 20:34982556-34982556
3	MYH7B	NM_020884.7(MYH7B):c.4931_4932del (p.Thr1644fs)	MICROSAT	Pathogenic	638684	rs1600477808	GRCh37: 20:33588243-33588244 GRCh38: 20:35000440-35000441
4	CAV3, OXTR	NM_033337.3(CAV3):c.191C>G (p.Thr64Ser)	SNV	Pathogenic	8288	rs121909280	GRCh37: 3:8787288-8787288 GRCh38: 3:8745602-8745602
5	MT-TG	m.9997T>C	SNV	Pathogenic	9611	rs121434475	GRCh37: MT:9997-9997 GRCh38: MT:9997-9997
6	MYH7	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	SNV	Pathogenic	14093	rs121913629	GRCh37: 14:23893193-23893193 GRCh38: 14:23423984-23423984
7	MYH7	nsv513807	DEL	Pathogenic	14096		GRCh37: GRCh38:
8	MYH7	NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly)	SNV	Pathogenic	14100	rs121913634	GRCh37: 14:23894581-23894581 GRCh38: 14:23425372-23425372
9	MYH7	NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)	SNV	Pathogenic	14103	rs121913636	GRCh37: 14:23897749-23897749 GRCh38: 14:23428540-23428540
10	MYH7	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	SNV	Pathogenic	14106	rs121913639	GRCh37: 14:23893235-23893235 GRCh38: 14:23424026-23424026
11	MYH7	NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)	SNV	Pathogenic	14123	rs121913654	GRCh37: 14:23884385-23884385 GRCh38: 14:23415176-23415176
12	MYH7	NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)	SNV	Pathogenic	14129	rs121913625	GRCh37: 14:23898214-23898214 GRCh38: 14:23429005-23429005
13	MYBPC3	NM_000256.3(MYBPC3):c.1168del (p.His390fs)	DEL	Pathogenic	42508	rs397515889	GRCh37: 11:47365098-47365098 GRCh38: 11:47343547-47343547
14	MYBPC3	NM_000256.3(MYBPC3):c.2308+1G>A	SNV	Pathogenic Pathogenic	42610	rs112738974	GRCh37: 11:47360070-47360070 GRCh38: 11:47338519-47338519
15	MYBPC3	NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)	DUP	Pathogenic	42615	rs397515960	GRCh37: 11:47359342-47359343 GRCh38: 11:47337791-47337792
16	MYH7	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	SNV	Pathogenic Likely Pathogenic	42885	rs121913630	GRCh37: 14:23895023-23895023 GRCh38: 14:23425814-23425814
17	MYBPC3	NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	DUP	Pathogenic	42619	rs397515963	GRCh37: 11:47359281-47359281 GRCh38: 11:47337729-47337730
18	MYBPC3	NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs)	MICROSAT	Pathogenic	217836	rs863225272	GRCh37: 11:47353724-47353725 GRCh38: 11:47332173-47332174
19	MYH6	NM_002471.4(MYH6):c.3193dup (p.Gln1065fs)	DUP	Pathogenic	217832	rs863225269	GRCh37: 14:23862178-23862179 GRCh38: 14:23392969-23392970
20	MYBPC3	NM_000256.3(MYBPC3):c.1359del (p.Val454fs)	DEL	Pathogenic	217835	rs863225271	GRCh37: 11:47364479-47364479 GRCh38: 11:47342928-47342928
21	MYBPC3	NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)	DUP	Pathogenic	181076	rs730880649	GRCh37: 11:47362747-47362748 GRCh38: 11:47341196-47341197
22	MYBPC3	NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	SNV	Pathogenic	42669	rs397515992	GRCh37: 11:47356593-47356593 GRCh38: 11:47335042-47335042
23	MYBPC3	NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)	DUP	Pathogenic	42632	rs397515970	GRCh37: 11:47359019-47359020 GRCh38: 11:47337468-47337469
24	MYBPC3	NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	DEL	Pathogenic	42801	rs397516080	GRCh37: 11:47368190-47368191 GRCh38: 11:47346639-47346640
25	MYBPC3	NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	SNV	Pathogenic	177850	rs573916965	GRCh37: 11:47367848-47367848 GRCh38: 11:47346297-47346297
26	MYBPC3	NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)	SNV	Pathogenic	164055	rs727503180	GRCh37: 11:47355547-47355547 GRCh38: 11:47333996-47333996
27	MYBPC3	NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)	DEL	Pathogenic	228370	rs876657705	GRCh37: 11:47356709-47356709 GRCh38: 11:47335158-47335158
28	MYBPC3	NM_000256.3(MYBPC3):c.927-9G>A	SNV	Pathogenic	42807	rs397516083	GRCh37: 11:47367930-47367930 GRCh38: 11:47346379-47346379
29	MYBPC3	NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)	SNV	Pathogenic	181061	rs730880635	GRCh37: 11:47365146-47365146 GRCh38: 11:47343595-47343595
30	TNNT2	NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del)	DEL	Pathogenic	684850	rs1571627587	GRCh37: 1:201334397-201334402 GRCh38: 1:201365269-201365274
31	MYBPC3	NM_000256.3(MYBPC3):c.2149-2del	DEL	Pathogenic	437425	rs1555121488	GRCh37: 11:47360232-47360232 GRCh38: 11:47338681-47338681
32	MYBPC3	NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)	DEL	Pathogenic	42727	rs397516029	GRCh37: 11:47354120-47354120 GRCh38: 11:47332569-47332569
33	LMNA	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	SNV	Pathogenic	222001	rs1057515421	GRCh37: 1:156106075-156106075 GRCh38: 1:156136284-156136284
34	MYBPC3	NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter)	SNV	Pathogenic	978357	rs1233894123	GRCh37: 11:47365083-47365083 GRCh38: 11:47343532-47343532
35	MYL3	NM_000258.3(MYL3):c.281G>A (p.Arg94His)	SNV	Pathogenic	31777	rs199474703	GRCh37: 3:46902192-46902192 GRCh38: 3:46860702-46860702
36	MYH7	NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly)	SNV	Pathogenic	177758	rs727504311	GRCh37: 14:23894114-23894114 GRCh38: 14:23424905-23424905
37	TNNT2	NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)	SNV	Pathogenic	177807	rs727504331	GRCh37: 1:201334370-201334370 GRCh38: 1:201365242-201365242
38	MYBPC3	NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)	INDEL	Pathogenic	42639	rs397515975	GRCh37: 11:47358987-47358988 GRCh38: 11:47337436-47337437
39	MYH7	NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu)	SNV	Pathogenic	407200	rs1060501452	GRCh37: 14:23898513-23898513 GRCh38: 14:23429304-23429304
40	MYBPC3	NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)	SNV	Pathogenic	42622	rs397515965	GRCh37: 11:47359090-47359090 GRCh38: 11:47337539-47337539
41	TCAP	NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)	SNV	Pathogenic	44711	rs397516863	GRCh37: 17:37822330-37822330 GRCh38: 17:39666077-39666077
42	TCAP	NM_003673.4(TCAP):c.136_137del (p.Gln46fs)	DEL	Pathogenic	835598	rs2057249899	GRCh37: 17:37821994-37821995 GRCh38: 17:39665741-39665742
43	TCAP	NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)	SNV	Pathogenic	5525	rs104894655	GRCh37: 17:37822015-37822015 GRCh38: 17:39665762-39665762
44	TCAP	NM_003673.4(TCAP):c.103G>T (p.Glu35Ter)	SNV	Pathogenic	286261	rs779699520	GRCh37: 17:37821715-37821715 GRCh38: 17:39665462-39665462
45	TCAP	NM_003673.4(TCAP):c.26_33dup (p.Glu12fs)	DUP	Pathogenic	448649	rs778568339	GRCh37: 17:37821635-37821636 GRCh38: 17:39665382-39665383
46	MYH7	NM_000257.4(MYH7):c.2609G>A (p.Arg870His)	SNV	Pathogenic Pathogenic/Likely Pathogenic	14120	rs36211715	GRCh37: 14:23894048-23894048 GRCh38: 14:23424839-23424839
47	TCAP	NM_003673.4(TCAP):c.110+5G>A	SNV	Pathogenic	1055526		GRCh37: 17:37821727-37821727 GRCh38: 17:39665474-39665474
48	TCAP	NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer)	DUP	Pathogenic	290308	rs886044421	GRCh37: 17:37821653-37821654 GRCh38: 17:39665400-39665401
49	TCAP	NM_003673.4(TCAP):c.34del (p.Glu12fs)	DEL	Pathogenic	1459213		GRCh37: 17:37821645-37821645 GRCh38: 17:39665392-39665392
50	TCAP	NM_003673.4(TCAP):c.166C>T (p.Gln56Ter)	SNV	Pathogenic	1382475		GRCh37: 17:37822024-37822024 GRCh38: 17:39665771-39665771

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 1:

⁷³ (show top 50) (show all 173)

#	Symbol	AA change	Variation ID	SNP ID
1	CAV3	p.Thr64Ser	VAR_029543	rs121909280
2	MYH7	p.Ala26Val	VAR_004566	rs186964570
3	MYH7	p.Val59Ile	VAR_004567	rs771132107
4	MYH7	p.Arg143Gln	VAR_004568	rs397516209
5	MYH7	p.Arg249Gln	VAR_004569	rs3218713
6	MYH7	p.Gly256Glu	VAR_004570	rs121913633
7	MYH7	p.Ile263Thr	VAR_004571	rs397516269
8	MYH7	p.Met349Thr	VAR_004572	rs121913640
9	MYH7	p.Arg403Leu	VAR_004573	rs121913624
10	MYH7	p.Arg403Gln	VAR_004574	rs121913624
11	MYH7	p.Arg403Trp	VAR_004575	rs3218714
12	MYH7	p.Arg453Cys	VAR_004576	rs121913625
13	MYH7	p.Phe513Cys	VAR_004577	rs121913636
14	MYH7	p.Gly584Arg	VAR_004578	rs121913626
15	MYH7	p.Asp587Val	VAR_004579	rs1285747856
16	MYH7	p.Asn602Ser	VAR_004580	rs730880880
17	MYH7	p.Val606Met	VAR_004581	rs121913627
18	MYH7	p.Lys615Asn	VAR_004582	rs1164270609
19	MYH7	p.Gly716Arg	VAR_004583	rs121913638
20	MYH7	p.Arg719Trp	VAR_004584	rs121913637
21	MYH7	p.Arg723Cys	VAR_004585	rs121913630
22	MYH7	p.Pro731Leu	VAR_004586	rs1247313340
23	MYH7	p.Ile736Met	VAR_004587
24	MYH7	p.Gly741Arg	VAR_004588	rs121913632
25	MYH7	p.Gly741Trp	VAR_004589	rs121913632
26	MYH7	p.Asp778Gly	VAR_004590	rs121913634
27	MYH7	p.Ala797Thr	VAR_004591	rs3218716
28	MYH7	p.Arg870His	VAR_004592	rs36211715
29	MYH7	p.Leu908Val	VAR_004593	rs121913631
30	MYH7	p.Glu924Lys	VAR_004594	rs121913628
31	MYH7	p.Glu930Lys	VAR_004595	rs397516171
32	MYH7	p.Glu935Lys	VAR_004597	rs121913639
33	MYH7	p.Glu949Lys	VAR_004598	rs121913629
34	MYH7	p.Glu743Asp	VAR_014199	rs397516139
35	MYH7	p.Arg719Gln	VAR_017749	rs121913641
36	MYH7	p.Ala728Val	VAR_017750	rs121913644
37	MYH7	p.Val39Met	VAR_019845	rs376160714
38	MYH7	p.Thr188Asn	VAR_019846	rs730880844
39	MYH7	p.Arg204His	VAR_019847	rs397516260
40	MYH7	p.Asn232Ser	VAR_019848	rs1302598456
41	MYH7	p.Ala355Thr	VAR_019849	rs397516088
42	MYH7	p.Ala428Val	VAR_019850	rs727503266
43	MYH7	p.Ile443Thr	VAR_019851	rs1234112565
44	MYH7	p.Asn479Ser	VAR_019852	rs727504236
45	MYH7	p.Glu483Lys	VAR_019853	rs121913651
46	MYH7	p.Met659Ile	VAR_019854	rs1241603111
47	MYH7	p.Arg663His	VAR_019855	rs371898076
48	MYH7	p.Arg663Ser	VAR_019856
49	MYH7	p.Arg671Cys	VAR_019857	rs727503263
50	MYH7	p.Gly733Glu	VAR_019858	rs727504241

Sources

Expression for Cardiomyopathy, Familial Hypertrophic, 1

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 1.

Sources

Pathways for Cardiomyopathy, Familial Hypertrophic, 1

Pathways related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Sweet Taste Signaling ⁶⁴ Show member pathways Bitter Taste Signaling ⁶⁴ Cellular Effects of Sildenafil ⁶⁴ Melatonin Signaling ⁶⁴ Sperm Motility ⁶⁴	12.89	RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
2	Actin Nucleation by ARP-WASP Complex ⁶⁴ Show member pathways Actin Nucleation and Branching ⁶⁴ CDC42 Pathway ⁶⁴ RhoA Pathway ⁶⁴	12.77	RAF1 MYL3 MYL2 MYH7B MYH7 MYH6
3	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.76	MYH6 MYH7 MYH7B MYL2 MYL3 RAF1
4	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 2 - plateau phase ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.39	TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
5	Cytoskeletal Signaling ³	12.36	TPM1 TNNT2 TNNI3 LMNA ACTC1
6	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.36	RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
7	Myometrial relaxation and contraction pathways ⁷⁴ Show member pathways Calcium regulation in cardiac cells ⁷⁴	12.33	OXTR MYLK2 MYL2 ACTC1
8	RhoGDI Pathway ⁶⁴ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁴	12.21	MYL3 MYL2 MYH7B MYH7 MYH6
9	Immune response CCR3 signaling in eosinophils ²² Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²²	12.19	RAF1 MYLK2 MYL3 MYL2 MYH7 MYH6
10	Focal adhesion ⁷⁴	12.11	RAF1 MYLK2 MYL2 CAV3
11	Mesenchymal Stem Cells and Lineage-specific Markers ⁶⁵	11.69	TNNT2 TNNI3 MYL3
12	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.36	RAF1 MYLK2 MYL3
13	Cytoskeleton remodeling_RalA regulation pathway ²²	11.34	MYL3 MYL2 MYH7B MYH7 MYH6 ACTC1
14	Cardiac progenitor differentiation ⁷⁴	11.28	ACTC1 MYH6 MYL2 TNNI3 TNNT2
15	Striated muscle contraction pathway ⁷⁴ Show member pathways Striated Muscle Contraction ⁶⁶	11.15	TPM1 TNNT2 TNNI3 TCAP MYL3 MYL2
16	Cardiomyocyte Differentiation through BMP Receptors ⁶⁴	10.92	MYH7 MYH7B MYL2

Sources

GO Terms for Cardiomyopathy, Familial Hypertrophic, 1

Cellular components related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	Z disc	GO:0030018	10.1	TCAP MYH7 MYH6 CAV3
2	stress fiber	GO:0001725	10	TPM1 MYH7 MYH6
3	myosin II complex	GO:0016460	9.97	MYL3 MYH7B MYH7 MYH6
4	I band	GO:0031674	9.93	ACTC1 MYL3 TCAP
5	muscle myosin complex	GO:0005859	9.91	MYL3 MYH7 MYH6
6	A band	GO:0031672	9.88	MYL3 MYL2 MYBPC3
7	myosin filament	GO:0032982	9.87	MYBPC3 MYH6 MYH7 MYH7B
8	myosin complex	GO:0016459	9.86	MYL3 MYL2 MYH7B MYH7 MYH6
9	troponin complex	GO:0005861	9.81	TNNT2 TNNI3
10	cardiac Troponin complex	GO:1990584	9.78	TNNT2 TNNI3
11	myofibril	GO:0030016	9.76	TNNT2 TNNI3 MYL2 MYH7 MYH6
12	sarcomere	GO:0030017	9.64	TPM1 TNNT2 TNNI3 TCAP MYLK2 MYL3
13	cardiac myofibril	GO:0097512	9.61	MYBPC3 MYH7B MYL2 TNNI3 TNNT2

Biological processes related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of heart rate	GO:0002027	10.07	CAV3 MYH6 MYH7
2	skeletal muscle contraction	GO:0003009	10.06	TNNI3 TCAP MYH7
3	regulation of heart contraction	GO:0008016	10.06	CAV3 MYH6 TNNT2 TPM1
4	heart contraction	GO:0060047	10.05	TNNI3 MYL2 ACTC1
5	cardiac muscle cell development	GO:0055013	10.03	CAV3 MYH6 TCAP
6	positive regulation of ATP-dependent activity	GO:0032781	10.03	TPM1 TNNT2 MYL3 MYBPC3
7	sarcomere organization	GO:0045214	10.02	TPM1 TNNT2 TCAP MYH7 MYH6
8	cardiac muscle hypertrophy in response to stress	GO:0014898	10.01	TCAP MYH7 MYH6
9	regulation of the force of heart contraction	GO:0002026	10.01	MYL3 MYL2 MYH7 MYH6
10	adult heart development	GO:0007512	10	TCAP MYH7 MYH6
11	cardiac myofibril assembly	GO:0055003	9.99	ACTC1 MYL2 TCAP
12	cardiac muscle tissue morphogenesis	GO:0055008	9.97	ACTC1 MYLK2 TCAP
13	cardiac muscle contraction	GO:0060048	9.96	MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2
14	regulation of striated muscle contraction	GO:0006942	9.95	MYL3 MYL2 MYBPC3
15	muscle contraction	GO:0006936	9.93	MYH6 MYH7 OXTR TNNI3 TNNT2 TPM1
16	cardiac muscle hypertrophy	GO:0003300	9.92	TCAP CAV3
17	negative regulation of ATP-dependent activity	GO:0032780	9.92	TNNT2 TNNI3
18	negative regulation of nitric-oxide synthase activity	GO:0051001	9.91	GLA CAV3
19	detection of muscle stretch	GO:0035995	9.91	TCAP CAV3
20	striated muscle contraction	GO:0006941	9.91	MYH6 MYH7 MYLK2 TNNI3
21	skeletal muscle thin filament assembly	GO:0030240	9.9	TCAP ACTC1
22	regulation of muscle filament sliding	GO:0032971	9.87	MYLK2 MYBPC3
23	muscle filament sliding	GO:0030049	9.86	TPM1 TNNT2 MYH7 MYH6
24	regulation of muscle contraction	GO:0006937	9.85	TPM1 TNNT2 TNNI3
25	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.53	MYBPC3 MYH6 MYH7 MYL2 MYL3 TNNI3

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actin filament binding	GO:0051015	10.02	TPM1 TNNI3 MYH7B MYH7 MYH6
2	actin binding	GO:0003779	9.9	MYBPC3 MYH6 MYH7 MYH7B TNNI3 TNNT2
3	myosin heavy chain binding	GO:0032036	9.71	MYL2 MYBPC3
4	structural constituent of muscle	GO:0008307	9.65	TPM1 TCAP MYL3 MYL2 MYBPC3
5	troponin C binding	GO:0030172	9.56	TNNT2 TNNI3
6	cytoskeletal motor activity	GO:0003774	9.54	MYH7B MYH7 MYH6
7	microfilament motor activity	GO:0000146	9.28	TNNT2 MYH7B MYH7 MYH6 ACTC1