MYH6

Summary

MYH6 (myosin heavy chain 6, HGNC:7576) is a protein-coding gene on chromosome 14q11.2, encoding Myosin-6 (P13533). Muscle contraction.

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3.

Source: NCBI Gene 4624 — RefSeq curated summary.

At a glance

• Gene–disease (curated): MYH-6 related congenital heart defects (Definitive, ClinGen) — +7 more curated relationships
• GWAS associations: 84
• Clinical variants (ClinVar): 2,466 total — 7 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 61
• Druggable target: yes
• MANE Select transcript: NM_002471

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7576
Approved symbol	MYH6
Name	myosin heavy chain 6
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000197616
Ensembl biotype	protein_coding
OMIM	160710
Entrez	4624

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 42 protein_coding, 2 retained_intron

ENST00000405093, ENST00000557461, ENST00000651452, ENST00000968250, ENST00000968251, ENST00000968252, ENST00000968253, ENST00000968254, ENST00000968255, ENST00000968256, ENST00000968257, ENST00000968258, ENST00000968259, ENST00000968260, ENST00000968261, ENST00000968262, ENST00000968263, ENST00000968264, ENST00000968265, ENST00000968266, ENST00000968267, ENST00000968268, ENST00000968269, ENST00000968270, ENST00000968271, ENST00000968272, ENST00000968273, ENST00000968274, ENST00000968275, ENST00000968276, ENST00000968277, ENST00000968278, ENST00000968279, ENST00000968280, ENST00000968281, ENST00000968282, ENST00000968283, ENST00000968284, ENST00000968285, ENST00000968286, ENST00000968287, ENST00000968288, ENST00000968289, ENST00000968290

RefSeq mRNA: 1 — MANE Select: NM_002471 NM_002471

CCDS: CCDS9600

Canonical transcript exons

ENST00000405093 — 39 exons

Exon	Start	End
ENSE00001099718	23388155	23388338
ENSE00001099733	23394068	23394323
ENSE00001099737	23393666	23393908
ENSE00001099743	23387529	23387653
ENSE00001099747	23396284	23396420
ENSE00001099751	23398728	23399037
ENSE00001099773	23389593	23389719
ENSE00001099787	23392562	23392652
ENSE00001099790	23397543	23397613
ENSE00001099794	23397170	23397257
ENSE00001550030	23381987	23382063
ENSE00001598337	23386315	23386623
ENSE00001614802	23384442	23384717
ENSE00001627611	23400256	23400426
ENSE00001627636	23383225	23383320
ENSE00001652587	23384916	23385041
ENSE00001663703	23393342	23393518
ENSE00001668511	23408253	23408273
ENSE00001678677	23387758	23387923
ENSE00001686732	23396963	23397080
ENSE00001712783	23389393	23389511
ENSE00001728464	23390057	23390446
ENSE00001738410	23385928	23386131
ENSE00001747483	23392912	23393057
ENSE00001769400	23396694	23396817
ENSE00001775775	23407576	23407608
ENSE00001787004	23382428	23382562
ENSE00001804252	23388859	23389055
ENSE00003475584	23404296	23404388
ENSE00003479498	23405223	23405379
ENSE00003483066	23402697	23402800
ENSE00003492748	23402464	23402602
ENSE00003502699	23405627	23405770
ENSE00003536041	23400709	23400977
ENSE00003547849	23407023	23407236
ENSE00003618551	23403715	23403778
ENSE00003664123	23404711	23404822
ENSE00003678997	23405100	23405127
ENSE00003691505	23403348	23403446

Expression profiles

Bgee: expression breadth ubiquitous, 154 present calls, max score 100.00.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.3945 / max 876.8722, expressed in 73 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142397	2.0885	65
142371	0.0615	16
207162	0.0488	14
142369	0.0393	11
142374	0.0290	11
142364	0.0281	10
142395	0.0254	7
142368	0.0203	8
142373	0.0197	9
142396	0.0135	7

Top tissues by expression

289 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	100.00	gold quality
cardiac atrium	UBERON:0002081	99.95	gold quality
vena cava	UBERON:0004087	99.94	gold quality
right atrium auricular region	UBERON:0006631	99.94	gold quality
myocardium	UBERON:0002349	99.80	gold quality
heart right ventricle	UBERON:0002080	99.39	gold quality
left ventricle myocardium	UBERON:0006566	99.24	gold quality
apex of heart	UBERON:0002098	99.10	gold quality
cardiac ventricle	UBERON:0002082	99.00	gold quality
heart left ventricle	UBERON:0002084	98.98	gold quality
gluteal muscle	UBERON:0002000	98.32	gold quality
diaphragm	UBERON:0001103	95.68	gold quality
triceps brachii	UBERON:0001509	94.78	gold quality
gastrocnemius	UBERON:0001388	94.75	gold quality
vastus lateralis	UBERON:0001379	94.32	gold quality
heart	UBERON:0000948	94.31	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.16	gold quality
quadriceps femoris	UBERON:0001377	93.89	gold quality
biceps brachii	UBERON:0001507	93.85	gold quality
muscle organ	UBERON:0001630	92.68	gold quality
tibialis anterior	UBERON:0001385	92.66	gold quality
skeletal muscle tissue	UBERON:0001134	92.43	gold quality
muscle of leg	UBERON:0001383	92.39	gold quality
deltoid	UBERON:0001476	92.06	gold quality
body of tongue	UBERON:0011876	91.61	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.96	gold quality
muscle tissue	UBERON:0002385	88.79	gold quality
tongue	UBERON:0001723	82.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.55	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-11268	no	758.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ARRB2, ATF3, EEF1A1, EGR1, ELK3, FOS, FOXG1, FOXP1, GATA4, GATA6, GSK3B, HAND2, HESX1, JARID2, JUN, MAZ, MEF2A, MEF2C, MYC, NKX2-5, NR2F2, PAX1, PHF5A, PLAGL1, PURA, PURB, SMAD1, SRF, TBX5, TCF12, TEAD1, TEF, THRA, THRB, YY1

Literature-anchored findings (GeneRIF, showing 39)

• We suggest from those results that Mo25 and Fray operate together or in the same pathway in Drosophila asymmetric processes, and that their function counterbalances Lkb1. (PMID:18054329)
• This study proposed that normally functioning nerves generate extracellular solutes that are removed by Ncc69 under the control of Fray. (PMID:21125654)
• The Drosophila WNK-SPAK/OSR1-NKCC cascade is an essential molecular pathway for osmoregulation. (PMID:25086033)
• The glial sodium-potassium-2-chloride cotransporter is required for synaptic transmission in the Drosophila visual system. (PMID:30792494)
• results show that PUR proteins are capable of binding to alpha-MHC mRNA and attenuate its translational efficiency; also show robust expression of PUR proteins in failing hearts where alpha-MHC mRNA levels are suppressed (PMID:12933792)
• Mutation in myosin heavy chain 6 causes atrial septal defect (PMID:15735645)
• Three heterozygous MYH6 missense mutations were identified in dilated cardiomyopathy probands (P830L, A1004S, and E1457K; 4.3% of probands). A Q1065H mutation was detected in 1 of 21 hypertrophic cardiomyopathy probands. (PMID:15998695)
• the large step of dimeric myosin VI is primarily made possible by a medial tail in each monomer that forms a rare single alpha-helix of approximately 10 nm, which is anchored to the calmodulin-bound IQ domain by a globular proximal tail. (PMID:18511944)
• Our data provide evidence for a novel form of calcium-independent positive inotropy in failing cardiac myocytes by fast alpha-myosin motor protein gene transfer. (PMID:19801488)
• The mutations in MYH6 cause when a genetic cause can be identified, which has estimated to occur in 65% of hypertrophic cardiomyopathy. (PMID:20215591)
• data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to atrial septal defect and provide a novel potential mechanism (PMID:20656787)
• the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant (PMID:21378987)
• the alpha-isoform of myosin heavy chain is the pathogenic autoantigen for CD4+ T cells in myocarditis (PMID:21436590)
• Perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial Secundum-type atrial septal defects. (PMID:22194935)
• R1165C mutation in MYH9 gene is associated with macroscopic hematuria and presenile cataract. (PMID:22627578)
• Data from molecular dynamic/docking simulations suggest that actin-myosin binding free energy accepts contributions from both electrostatic and nonpolar forces; studies compare cardiac alpha-myosin, beta-myosin, and fast skeletal muscle myosin. (PMID:24224850)
• The novel MYH6 mutation delE933 causes both structural damage of the sarcomere and functional impairments on atrial action propagation. (PMID:25717017)
• human alpha- and beta-cardiac myosin, as well as the mutants, show opposite mechanical and enzymatic phenotypes with respect to each other. (PMID:25937279)
• Data show that compound heterozygosity for recessive myosin heavy chain 6 (MYH6) mutations in patients with hypoplastic left heart and reduced systemic right ventricular ejection fraction. (PMID:26085007)
• The etiology of MYH6-associated HLHS can be informed using iPSCs. (PMID:27789736)
• the P830L and A1004S alphaMHC mutations alter myocyte contractility in completely different ways while at the same preserving peak intracellular calcium (PMID:28088328)
• We developed an human cardiac alpha-myosin -induced myocarditis model in human HLA-DR4 transgenic mice that lack all mouse MHCII genes. (PMID:28431892)
• Rare inherited and de novo variants in 2,871 congenital heart disease probands identified GDF1, MYH6, and FLT4 as causative genes. (PMID:28991257)
• Three loci with high mutation frequencies, the 138665410 FOXL2 gene variant, the 23862952 MYH6 gene variant, and the 71098693 HYDIN gene variant were found to be significantly associated with sporadic Atrial Septal Defect (P<0.05); variants in FOXL2 and MYH6 were found in patients with isolated, sporadic Atrial Septal Defect (P<5x10-4). (PMID:29505555)
• The p.Arg721Trp in MYH6 causes a cardiac syndrome with highly variable expressivity and emphasizes the importance of sarcomere integrity for cardiac development and function. (PMID:29590334)
• Case Reports: venosus defect caused directly by MYH6 stop codon mutation. (PMID:29969989)
• Novel Mutation in MYH6 in 2 Unrelated Chinese Han Families With Familial Atrial Septal Defect. (PMID:31638415)
• Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. (PMID:33432820)
• Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias. (PMID:34384224)
• Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect. (PMID:34481090)
• Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy. (PMID:34515533)
• Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy. (PMID:34697898)
• Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects. (PMID:36209093)
• Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. (PMID:36694223)
• alpha-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure. (PMID:37443257)
• Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses. (PMID:38135727)
• Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses. (PMID:38340456)
• Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death. (PMID:38971138)
• MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer. (PMID:39181964)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	myh7	ENSDARG00000079564
danio_rerio		ENSDARG00000098747
danio_rerio	smyhc1	ENSDARG00000099959
danio_rerio		ENSDARG00000103837
danio_rerio	smyhc2	ENSDARG00000103969
danio_rerio	smyhc3	ENSDARG00000114031
danio_rerio		ENSDARG00000114818
mus_musculus	Myh6	ENSMUSG00000040752
rattus_norvegicus	Myh6	ENSRNOG00000025757

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535)

Protein

Protein identifiers

Myosin-6 — P13533 (reviewed: P13533)

Alternative names: Myosin heavy chain 6, Myosin heavy chain, cardiac muscle alpha isoform

All UniProt accessions (1): P13533

UniProt curated annotations — full annotation on UniProt →

Function. Muscle contraction.

Subunit / interactions. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

Subcellular location. Cytoplasm. Myofibril.

Disease relevance. Atrial septal defect 3 (ASD3) [MIM:614089] A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, familial hypertrophic, 14 (CMH14) [MIM:613251] 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. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, dilated, 1EE (CMD1EE) [MIM:613252] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Sick sinus syndrome 3 (SSS3) [MIM:614090] The term ‘sick sinus syndrome’ encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia (’tachycardia-bradycardia syndrome’) are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. Disease susceptibility is associated with variants affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers.

Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Miscellaneous. The cardiac alpha isoform is a ‘fast’ ATPase myosin, while the beta isoform is a ‘slow’ ATPase.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

RefSeq proteins (1): NP_002462* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF01576, PF02736

UniProt features (64 total): sequence conflict 22, sequence variant 17, modified residue 13, region of interest 4, domain 3, compositionally biased region 2, chain 1, binding site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13533-F1	74.91	0.10

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 178–185

Post-translational modifications (13): 129, 379, 417, 1139, 1261, 1271, 1277, 1284, 1309, 1310, 1311, 1512, 1515

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-390522	Striated Muscle Contraction
R-HSA-397014	Muscle contraction

MSigDB gene sets: 315 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_GROWTH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, KEGG_TIGHT_JUNCTION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SARCOMERE_ORGANIZATION, GNF2_MYL3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS

GO Biological Process (21): in utero embryonic development (GO:0001701), regulation of the force of heart contraction (GO:0002026), regulation of heart rate (GO:0002027), muscle contraction (GO:0006936), striated muscle contraction (GO:0006941), adult heart development (GO:0007512), visceral muscle development (GO:0007522), regulation of heart contraction (GO:0008016), regulation of blood pressure (GO:0008217), cardiac muscle hypertrophy in response to stress (GO:0014898), muscle filament sliding (GO:0030049), myofibril assembly (GO:0030239), sarcomere organization (GO:0045214), ATP metabolic process (GO:0046034), atrial cardiac muscle tissue morphogenesis (GO:0055009), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle cell development (GO:0055013), cardiac muscle contraction (GO:0060048), regulation of heart growth (GO:0060420), muscle system process (GO:0003012), actin filament-based movement (GO:0030048)

GO Molecular Function (9): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), myosin phosphatase activity (GO:0017018), protein kinase binding (GO:0019901), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779)

GO Cellular Component (10): stress fiber (GO:0001725), cytoplasm (GO:0005737), cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin complex (GO:0016459), myosin II complex (GO:0016460), myofibril (GO:0030016), sarcomere (GO:0030017), Z disc (GO:0030018), myosin filament (GO:0032982)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Muscle contraction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
regulation of biological quality	3
regulation of heart contraction	2
muscle contraction	2
heart contraction	2
actomyosin structure organization	2
striated muscle cell development	2
cardiac muscle tissue morphogenesis	2
contractile muscle fiber	2
myosin complex	2
chordate embryonic development	1
muscle system process	1
heart development	1
muscle organ development	1
regulation of blood circulation	1
blood circulation	1
muscle hypertrophy in response to stress	1
cardiac muscle hypertrophy	1
cardiac muscle adaptation	1
actin-myosin filament sliding	1
cellular component assembly involved in morphogenesis	1
supramolecular fiber organization	1
membraneless organelle assembly	1
myofibril assembly	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
cardiac atrium morphogenesis	1
atrial cardiac muscle tissue development	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac cell development	1
cardiac muscle cell differentiation	1
striated muscle contraction	1
regulation of organ growth	1
heart growth	1
regulation of multicellular organismal development	1
system process	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1

Protein interactions and networks

STRING

3014 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH6	TBX5	Q99593	909
MYH6	TNNT2	P45379	900
MYH6	MYBPC3	Q14896	886
MYH6	MYL3	P08590	874
MYH6	TNNI3	P19429	861
MYH6	MYL2	P10916	859
MYH6	ACTC1	P04270	859
MYH6	NPPA	P01160	838
MYH6	GATA4	P43694	822
MYH6	MYOG	P15173	816
MYH6	ACTN2	P35609	812
MYH6	TTN	Q8WZ42	812
MYH6	MYOD1	P15172	805
MYH6	BMP10	O95393	805
MYH6	NKX2-5	P52952	794

IntAct

40 interactions, top by confidence:

A	B	Type	Score
PRKAG2	PRKAB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
rep	MYH6	psi-mi:“MI:0194”(cleavage reaction)	0.440
HSPB2	MYH6	psi-mi:“MI:0915”(physical association)	0.370
LRRC39	MYH6	psi-mi:“MI:0915”(physical association)	0.370
MYH6	ELOC	psi-mi:“MI:0914”(association)	0.350
TMEM132A	WWP2	psi-mi:“MI:0914”(association)	0.350
Brca1	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MYH6	BDP1	psi-mi:“MI:0914”(association)	0.350
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
PPP1CA	ACO2	psi-mi:“MI:0914”(association)	0.350
HIF1A	MYL1	psi-mi:“MI:0914”(association)	0.350
PRKACB	MYL1	psi-mi:“MI:0914”(association)	0.350
CFTR	MYH7B	psi-mi:“MI:0914”(association)	0.350
ABTB2	IFT56	psi-mi:“MI:0914”(association)	0.350
LZTR1	CKM	psi-mi:“MI:0914”(association)	0.350
MYH3	MYH6	psi-mi:“MI:0914”(association)	0.350
LATS1	ATP2A1	psi-mi:“MI:0914”(association)	0.350
FBXL14	MYH7B	psi-mi:“MI:0914”(association)	0.350
MAGEB3	MYH7B	psi-mi:“MI:0914”(association)	0.350
MFGE8	MYH7B	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): ACTN2 (Co-fractionation), MYH6 (Co-fractionation), MYH6 (Co-fractionation), TPM2 (Co-fractionation), MYH6 (Two-hybrid), HMGN1 (Affinity Capture-MS), MBP (Affinity Capture-MS), MYH6 (Affinity Capture-MS), MYH6 (Affinity Capture-MS), NSF (Affinity Capture-MS), MAP2K3 (Affinity Capture-MS), TCEB1 (Affinity Capture-MS), TMSB4X (Affinity Capture-MS), UMPS (Affinity Capture-MS), MCM3AP (Affinity Capture-MS)

ESM2 similar proteins: A2AQP0, A5PF48, A7E2Y1, F1PT61, F4IUG9, F4JM19, O08638, P02563, P02564, P02566, P02567, P08799, P10568, P11055, P12844, P12845, P12847, P12883, P13533, P13539, P13540, P13541, P24733, P35749, P49824, P79293, P97479, Q02566, Q076A3, Q076A4, Q076A5, Q13402, Q23979, Q29P71, Q29RW1, Q60LV4, Q8MJU9, Q8MJV0, Q8N1T3, Q90339

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ELK3	“down-regulates quantity by repression”	MYH6	“transcriptional regulation”
PURB	“down-regulates quantity by repression”	MYH6	“transcriptional regulation”
PURA	“down-regulates quantity by repression”	MYH6	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

2466 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	7
Uncertain significance	1430
Likely benign	778
Benign	48

Top pathogenic / likely-pathogenic (14)

Variant ID	HGVS	Classification
14148	NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn)	Pathogenic
14150	NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu)	Pathogenic
217832	NM_002471.4(MYH6):c.3193dup (p.Gln1065fs)	Pathogenic
2817839	NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)	Pathogenic
520533	NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)	Pathogenic
521391	NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)	Pathogenic
561059	NM_002471.4(MYH6):c.1410+1G>A	Pathogenic
2574005	NM_002471.4(MYH6):c.1962+2T>C	Likely pathogenic
2576995	NM_002471.4(MYH6):c.1378dup (p.Val460fs)	Likely pathogenic
2692441	NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)	Likely pathogenic
3366965	NM_002471.4(MYH6):c.5164-2A>G	Likely pathogenic
4292327	NM_002471.4(MYH6):c.4651-1G>A	Likely pathogenic
521390	NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln)	Likely pathogenic
691662	NM_002471.4(MYH6):c.1399G>T (p.Glu467Ter)	Likely pathogenic

SpliceAI

4300 predictions. Top by Δscore:

Variant	Effect	Δscore
14:23382423:CCCA:C	donor_loss	1.0000
14:23382424:CCA:C	donor_loss	1.0000
14:23382425:CACCT:C	donor_loss	1.0000
14:23382426:A:T	donor_loss	1.0000
14:23382463:TGTTG:T	donor_gain	1.0000
14:23382558:TCCTC:T	acceptor_gain	1.0000
14:23382559:CCTCC:C	acceptor_gain	1.0000
14:23382560:CTC:C	acceptor_gain	1.0000
14:23382561:TC:T	acceptor_gain	1.0000
14:23382562:CC:C	acceptor_gain	1.0000
14:23382562:CCTGT:C	acceptor_loss	1.0000
14:23382563:C:CC	acceptor_gain	1.0000
14:23382565:G:C	acceptor_gain	1.0000
14:23382565:G:GC	acceptor_gain	1.0000
14:23382575:A:T	acceptor_gain	1.0000
14:23383219:A:C	donor_gain	1.0000
14:23383220:CTCA:C	donor_loss	1.0000
14:23383222:CAC:C	donor_loss	1.0000
14:23383223:A:AC	donor_gain	1.0000
14:23383223:ACC:A	donor_loss	1.0000
14:23383223:ACCG:A	donor_gain	1.0000
14:23383223:ACCGC:A	donor_gain	1.0000
14:23383224:C:CA	donor_gain	1.0000
14:23383224:CCG:C	donor_gain	1.0000
14:23383224:CCGC:C	donor_gain	1.0000
14:23383224:CCGCC:C	donor_gain	1.0000
14:23383317:CTGT:C	acceptor_gain	1.0000
14:23383318:TGT:T	acceptor_gain	1.0000
14:23383319:GTCTG:G	acceptor_loss	1.0000
14:23383320:TC:T	acceptor_loss	1.0000

AlphaMissense

12880 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:23384623:A:G	L1795P	1.000
14:23388246:A:G	L1423P	1.000
14:23388310:C:G	A1402P	1.000
14:23394262:A:G	W831R	1.000
14:23394262:A:T	W831R	1.000
14:23397014:A:C	I706S	1.000
14:23397017:C:G	R705P	1.000
14:23397020:A:T	I704N	1.000
14:23397023:C:A	G703V	1.000
14:23397023:C:T	G703D	1.000
14:23397024:C:A	G703C	1.000
14:23397024:C:G	G703R	1.000
14:23397027:C:T	E702K	1.000
14:23397035:C:A	G699V	1.000
14:23397035:C:T	G699D	1.000
14:23397036:C:A	G699C	1.000
14:23397036:C:G	G699R	1.000
14:23397037:A:C	N698K	1.000
14:23397037:A:T	N698K	1.000
14:23397040:G:C	C697W	1.000
14:23397041:C:T	C697Y	1.000
14:23397042:A:G	C697R	1.000
14:23397047:A:G	L695P	1.000
14:23397047:A:T	L695Q	1.000
14:23397049:C:A	Q694H	1.000
14:23397049:C:G	Q694H	1.000
14:23397059:A:T	V691D	1.000
14:23397198:G:C	C674W	1.000
14:23397199:C:T	C674Y	1.000
14:23397200:A:G	C674R	1.000

dbSNP variants (sampled 300 via entrez): RS1000016502 (14:23393152 T>C), RS1000052881 (14:23400907 C>T), RS1000085018 (14:23400596 C>T), RS1000194650 (14:23398038 G>A), RS1000288854 (14:23394464 T>C), RS1000380817 (14:23405446 C>A,T), RS1000392750 (14:23408797 G>A), RS1000482587 (14:23398241 C>G,T), RS1000605442 (14:23396232 C>T), RS1001110348 (14:23383020 A>G), RS1001135568 (14:23385170 T>C), RS1001177952 (14:23407353 G>A), RS1001192248 (14:23399374 C>T), RS1001288444 (14:23401214 C>T), RS1001378340 (14:23404624 A>G)

Disease associations

OMIM: gene MIM:160710 | disease phenotypes: MIM:613251, MIM:613252, MIM:192600, MIM:614089, MIM:614090, MIM:115195, MIM:194200, MIM:601144, MIM:115080, MIM:604169, MIM:609040, MIM:241550, MIM:115200

GenCC curated gene-disease

Disease	Classification	Inheritance
MYH-6 related congenital heart defects	Definitive	Autosomal dominant
hypertrophic cardiomyopathy 14	Strong	Autosomal dominant
atrial septal defect	Strong	Autosomal dominant
Keppen-Lubinsky syndrome	Moderate	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
atrial septal defect 3	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
MYH-6 related congenital heart defects	Definitive	AD
dilated cardiomyopathy 1EE	Limited	AD
hypertrophic cardiomyopathy	Disputed	AD

Mondo (34): hypertrophic cardiomyopathy 14 (MONDO:0013197), dilated cardiomyopathy 1EE (MONDO:0013198), hypertrophic cardiomyopathy (MONDO:0005045), hypertrophic cardiomyopathy 1 (MONDO:0008647), atrial septal defect 3 (MONDO:0013567), sick sinus syndrome 3, susceptibility to (MONDO:0013568), cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy 2 (MONDO:0007266), hemiplegia (MONDO:0001170), dilated cardiomyopathy (MONDO:0005021), migraine disorder (MONDO:0005277), ventricular tachycardia (MONDO:0005477), Wolff-Parkinson-White syndrome (MONDO:0008685), familial hypertrophic cardiomyopathy (MONDO:0024573), long QT syndrome (MONDO:0002442)

Orphanet (17): Familial isolated dilated cardiomyopathy (Orphanet:154), Rare hypertrophic cardiomyopathy (Orphanet:217569), Interatrial communication (Orphanet:1478), Hereditary sick sinus syndrome (Orphanet:166282), Rare cardiomyopathy (Orphanet:167848), Dilated cardiomyopathy (Orphanet:217604), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Brugada syndrome (Orphanet:130), Hereditary progressive cardiac conduction defect (Orphanet:871), Left ventricular noncompaction (Orphanet:54260), Hypoplastic left heart syndrome (Orphanet:2248), Familial dilated cardiomyopathy (Orphanet:217607), Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (Orphanet:300751), Restrictive cardiomyopathy (Orphanet:217632), Inherited arrhythmogenic cardiomyopathy (Orphanet:247)

HPO phenotypes

61 total (30 of 61 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000407	Sensorineural hearing impairment
HP:0000961	Cyanosis
HP:0000969	Edema
HP:0001279	Syncope
HP:0001297	Stroke
HP:0001633	Abnormal mitral valve morphology
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001653	Mitral regurgitation
HP:0001670	Asymmetric septal hypertrophy
HP:0001682	Subvalvular aortic stenosis
HP:0001684	Secundum atrial septal defect
HP:0001699	Sudden death
HP:0001708	Right ventricular failure
HP:0001712	Left ventricular hypertrophy
HP:0001727	Thromboembolic stroke
HP:0001962	Palpitations
HP:0002090	Pneumonia
HP:0002092	Pulmonary arterial hypertension
HP:0002094	Dyspnea
HP:0002326	Transient ischemic attack
HP:0002718	Recurrent bacterial infections
HP:0002875	Exertional dyspnea
HP:0003198	Myopathy
HP:0003457	EMG abnormality
HP:0003546	Exercise intolerance
HP:0003584	Late onset
HP:0003596	Middle age onset

GWAS associations

84 associations (top):

Study	Trait	p-value
GCST000561_5	Electrocardiographic traits	9.000000e-11
GCST000731_6	Resting heart rate	4.000000e-14
GCST001748_2	Resting heart rate	8.000000e-07
GCST001969_7	Heart rate	5.000000e-45
GCST003818_65	Resting heart rate	2.000000e-100
GCST004213_5	Resting heart rate	4.000000e-10
GCST004278_67	Pulse pressure	3.000000e-08
GCST004824_10	P wave terminal force	4.000000e-22
GCST004824_3	P wave terminal force	3.000000e-18
GCST004826_10	P wave duration	6.000000e-10
GCST004826_19	P wave duration	4.000000e-13
GCST005687_1	Aortic coarctation	5.000000e-22
GCST005789_24	Resting heart rate	1.000000e-26
GCST006021_13	Systolic blood pressure	1.000000e-06
GCST006022_10	Pulse pressure	4.000000e-16
GCST006230_6	Pulse pressure	2.000000e-16
GCST006414_19	Atrial fibrillation	4.000000e-10
GCST007045_40	PR interval	7.000000e-10
GCST007217_3	RR interval (heart rate)	7.000000e-11
GCST007268_48	Diastolic blood pressure	9.000000e-15
GCST007269_325	Pulse pressure	2.000000e-19
GCST010321_149	PR interval	5.000000e-55
GCST010796_2201	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-37
GCST010796_2202	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-41
GCST010796_2203	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-43
GCST010796_2204	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-44
GCST010796_2205	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-44
GCST010796_2206	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-41
GCST010796_2207	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-40
GCST010796_2208	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-38

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0008379	P wave terminal force measurement
EFO:0005094	P wave duration
EFO:0006335	systolic blood pressure
EFO:0004462	PR interval
EFO:0004831	RR interval
EFO:0006336	diastolic blood pressure
EFO:0004327	electrocardiography

MeSH disease descriptors (23)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D053840	Brugada Syndrome	C14.280.067.322; C14.280.123.250; C16.320.100
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D006331	Heart Diseases	C14.280
D006344	Heart Septal Defects, Atrial	C14.240.400.560.375; C14.280.400.560.375; C16.131.240.400.560.375
D006429	Hemiplegia	C10.597.622.295; C23.888.592.636.312
D018636	Hypoplastic Left Heart Syndrome	C14.240.400.625; C14.280.400.625; C16.131.240.400.625
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D008881	Migraine Disorders	C10.228.140.546.399.750
D017180	Tachycardia, Ventricular	C14.280.067.845.940; C14.280.123.875.940; C23.550.073.845.940
D014693	Ventricular Fibrillation	C14.280.067.922; C23.550.073.922
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)
C563540	Atrial Septal Defect 3 (supp.)
C567683	Cardiomyopathy, Dilated, 1EE (supp.)
C567684	Cardiomyopathy, Familial Hypertrophic, 14 (supp.)
C566171	Cardiomyopathy, Familial Hypertrophic, 2 (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3831286 (PROTEIN COMPLEX)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	3
Doxorubicin	affects expression, decreases expression	3
Benzo(a)pyrene	affects methylation, increases methylation, increases mutagenesis	2
Daunorubicin	decreases expression	2
Folic Acid	decreases expression, increases expression	2
Mitoxantrone	decreases expression	2
Triclosan	decreases expression, increases expression	2
Valproic Acid	affects expression, increases methylation	2
butyraldehyde	decreases expression	1
protosappanin A	affects reaction, affects cotreatment, affects expression	1
1-hydroxy-2-oxo-3,3-bis(2-aminoethyl)-1-triazene	affects cotreatment, increases expression	1
2,7-dihydroxynaphthalene	increases expression	1
monomethylarsonous acid	increases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Dexamethasone	affects expression	1
Estradiol	decreases expression	1
Phenylbutyrates	affects cotreatment, increases expression	1
Polychlorinated Biphenyls	decreases expression	1
Ribavirin	decreases expression	1
Rifampin	increases expression	1
Tretinoin	increases expression, affects cotreatment	1
Warfarin	affects response to substance	1
Zinc	decreases expression	1
Aflatoxin B1	decreases methylation	1
Genistein	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 embryonic stem cell, 1 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A4UC	WAe009-A-46	Embryonic stem cell	Female
CVCL_A9YL	ZZUNEUi013-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

326 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01536717	PHASE4	SUSPENDED	Comparison of the Local Anaesthetics Articaine and Bupivacaine in Treatment of Acute Sternum Pain After Heart Surgery
NCT05688670	PHASE4	COMPLETED	Regional Anesthesia Following Pediatric Cardiac Surgery
NCT06631534	PHASE4	RECRUITING	Effect of Dexmedetomidine Supplementation to General Anaesthesia in Paediatric Transcatheter Closure of Atrial Septal Defect
NCT07054541	PHASE4	NOT_YET_RECRUITING	A Novel Echocardiography-Guided Strategy for Percutateous Closure of Atrial Septal Defect Assisted by PannaWire
NCT07226739	PHASE4	NOT_YET_RECRUITING	Comprehensive Toileting Program
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00480740	PHASE3	COMPLETED	The Pharmacology and Hemodynamics of Dexmedetomidine in Children With Congenital Heart Disease
NCT01773252	PHASE3	TERMINATED	Right to Left Cardiac Shunt Detection
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT01183221	PHASE2	COMPLETED	The Effects of Oxytocin on Complex Social Cognition in Autism Spectrum Disorders
NCT02847182	PHASE2	COMPLETED	Cord Blood Infusion for Children With Autism Spectrum Disorder
NCT03243552	PHASE2	UNKNOWN	Proof of Mechanism Study for the Treatment of Social Anhedonia in ASD
NCT03829878	PHASE2	WITHDRAWN	Efficacy, Safety, and Tolerability Study of Oral Full-Spectrum MicrobiotaTM (CP101) in Subjects With Autism Spectrum Disorder and Associated GI Symptoms (SPROUT)
NCT03900923	PHASE2	COMPLETED	Cannabidiol for ASD Open Trial
NCT05733390	PHASE2	WITHDRAWN	A Study of JZP541 in Adults With Irritability Associated With Autism Spectrum Disorder
NCT07303907	PHASE2	RECRUITING	A Phase 2A Trial of DT402 for Autism Spectrum Disorder
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle