TTN - titin Gene

Also Known as TMD; CMH9; CMD1G; CMPD4; EOMFC; HMERF; MYLK5; SALMY; LGMD2J; LGMDR10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7273

About TTN

Cytogenetic location: 2q31.2 Genomic coordinates (GRCh38): 2:178,525,989-178,807,423 (from NCBI)

This gene has 16 transcripts (splice variants), 224 orthologues and is associated with 21 phenotypes. Biased expression in heart (RPKM 14.7), prostate (RPKM 1.9) and 1 other tissue.

Summary

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]

TTN Products (7)

mRNA	Protein	Name
NM_001256850.1	NP_001243779.1	titin isoform N2BA
NM_001267550.2	NP_001254479.2	titin isoform IC
NM_003319.4	NP_003310.4	titin isoform N2-B
NM_133378.4	NP_596869.4	titin isoform N2-A
NM_133379.5	NP_596870.2	titin isoform novex-3
NM_133432.3	NP_597676.3	titin isoform novex-1
NM_133437.4	NP_597681.4	titin isoform novex-2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin filament binding	IDA IDA: Inferred from direct assay	9501083	GOA
enables actinin binding	IDA IDA: Inferred from direct assay	9501083	GOA
enables actinin binding	IPI IPI: Inferred from physical interaction	11846417	GOA
enables calcium ion binding	IDA IDA: Inferred from direct assay	7607248	GOA
enables calmodulin binding	IPI IPI: Inferred from physical interaction	7607248	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	18310072	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	9804419	GOA
enables muscle alpha-actinin binding	IPI IPI: Inferred from physical interaction	9501083	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	9642272	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7607248	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	9804419	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	23283722	GOA
enables protein kinase regulator activity	IMP IMP: Inferred from mutant phenotype	9804419	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	9804419	GOA
enables protein tyrosine kinase activity	IDA IDA: Inferred from direct assay	18765796	GOA
enables structural constituent of muscle	IMP IMP: Inferred from mutant phenotype	9817758	GOA
enables structural molecule activity conferring elasticity	IDA IDA: Inferred from direct assay	9804419	GOA
enables telethonin binding	IPI IPI: Inferred from physical interaction	11846417	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac muscle cell development	IMP IMP: Inferred from mutant phenotype	9817758	GOA
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	11846417	GOA
involved in cardiac muscle hypertrophy	IMP IMP: Inferred from mutant phenotype	11846417	GOA
involved in cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	9817758	GOA
involved in cardiac myofibril assembly	IMP IMP: Inferred from mutant phenotype	9817758	GOA
acts upstream of or within detection of muscle stretch	IDA IDA: Inferred from direct assay	18765796	GOA
involved in mitotic chromosome condensation	IEP IEP: Inferred from expression pattern	9548712	GOA
involved in positive regulation of gene expression	IGI IGI: Inferred from genetic interaction	25152160	GOA
involved in positive regulation of gene expression	IMP IMP: Inferred from mutant phenotype	25152160	GOA
involved in positive regulation of protein secretion	IGI IGI: Inferred from genetic interaction	25152160	GOA
involved in positive regulation of protein secretion	IMP IMP: Inferred from mutant phenotype	25152160	GOA
involved in protein kinase A signaling	IMP IMP: Inferred from mutant phenotype	25152160	GOA
involved in response to calcium ion	IDA IDA: Inferred from direct assay	7607248	GOA
involved in sarcomere organization	IMP IMP: Inferred from mutant phenotype	9804419	GOA
involved in sarcomerogenesis	IMP IMP: Inferred from mutant phenotype	9817758	GOA
involved in skeletal muscle myosin thick filament assembly	IMP IMP: Inferred from mutant phenotype	9817758	GOA
involved in skeletal muscle thin filament assembly	IMP IMP: Inferred from mutant phenotype	9817758	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in I band	IDA IDA: Inferred from direct assay	9817758	GOA
located in M band	IDA IDA: Inferred from direct assay	11717165	GOA
located in Z disc	IDA IDA: Inferred from direct assay	9501083	GOA
located in condensed nuclear chromosome	IDA IDA: Inferred from direct assay	9548712	GOA
located in striated muscle thin filament	IDA IDA: Inferred from direct assay	11717165	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTN Protein Structure

I-set

Titin_Z

I-set

PPAK

I-set

Ig_2

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

I-set

fn3

Pkinase

I-set

0
5300
10600
15900
21200
26500
31800
34350 a.a.

Protein Preferred Names	Protein Names
titin	connectin

TTN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	Filter Binding	16902413
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	CD	12482578
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	Y2H	16902413
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	ITC	16902413
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	Fluorescence Spectr	12482578
Intra	TTN	Q8WZ42	NEB	Homo sapiens	P20929	NMR	12482578
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	Pull Down	20133654
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	ITC	20133654
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	ITC	20489725
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	X-Ray Diffraction	20489725
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	X-Ray Diffraction	20133654
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	FRET	20489725
Intra	TTN	Q8WZ42	OBSL1	Homo sapiens	O75147	GMS	20133654
Intra	TTN	Q8WZ42	DYSF	Homo sapiens	O75923	PLA	23414517
Intra	TTN	Q8WZ42	DYSF	Homo sapiens	O75923	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	ENO1	Homo sapiens	P06733	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	MYBPC2	Homo sapiens	Q14324	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	MYBPH	Homo sapiens	Q13203	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	DNAJB5	Homo sapiens	O75953	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	TRIM63	Homo sapiens	Q969Q1	Y2H	18157088
Intra	TTN	Q8WZ42	TCAP	Homo sapiens	O15273	Pull Down	15582318
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Y2H	9501083
Intra	TTN	Q8WZ42	TCAP	Homo sapiens	O15273	AFM	19622741
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Photoaffinity Labelling	9501083
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	TCAP	Homo sapiens	O15273	GMS	19622741
Intra	TTN	Q8WZ42	TCAP	Homo sapiens	O15273	Pull Down	16962094
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Y2H	11846417
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Pull Down	11101506
Intra	TTN	Q8WZ42	ACTN2	Homo sapiens	P35609	Y2H	16902413
Intra	TTN	Q8WZ42	TCAP	Homo sapiens	O15273	Y2H Fragment Pooling	23414517
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	Pull Down	11448995
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	ITC	20489725
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	ITC	20133654
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	FRET	20489725
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	Y2H	11448995
Intra	TTN	Q8WZ42	OBSCN	Homo sapiens	Q5VST9	Pull Down	20133654

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant TTN Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71698	TTN Protein, Human (His)	Q8WZ42-6 (V5398-T5604)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure Hmerf Myopathy, Proximal, With Early Respiratory Muscle Involvement Edstrom Myopathy Mfm-Titinopathy MFM9 Mprm Hereditary Inclusion Body Myopathy With Early Respiratory Failure Hibm-Erf Myofibrillar Myopathy-Titinopathy Myofibrillar Myopathy With Early Respiratory Failure Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant Myofibrillar Myopathy 9 Myofibrillar Myopathy 9 With Early Respiratory Failure Autosomal Dominant Distal Myopathy With Early Respiratory Failure Proximal Myopathy With Early Respiratory Muscle Involvement Hereditary Proximal Myopathy With Early Respiratory Failure Admerf Edström Myopathy Hmerf-Erf
Salih Myopathy	Early-Onset Myopathy With Fatal Cardiomyopathy Myopathy, Early-Onset, With Fatal Cardiomyopathy Eomfc SALMY Salih Cmd Salih Congenital Muscular Dystrophy Titinopathy & Early-Onset Myopathy With Fatal Cardiomyopathy Myopathy, Salih
Cardiomyopathy, Dilated, 1g	Dilated Cardiomyopathy 1g CMD1G Cardiomyopathy, Dilated 1g Cardiomyopathy, Dilated, Type 1g
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic Cardiomyopathy 9 CMH9 Cardiomyopathy, Familial Hypertrophic 9 Cardiomyopathy, Hypertrophic, Familial, Type 9
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular Dystrophy, Limb-Girdle, Type 2j Lgmd2j LGMDR10 Titin-Related Limb-Girdle Muscular Dystrophy R10 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Lgmd Type 2j Limb-Girdle Muscular Dystrophy Type 2j Titin-Related Lgmd R10 Limb-Girdle Muscular Dystrophy 2j Limb-Girdle Muscular Dystrophy, Type 2j Dystrophy, Muscular, Limb-Girdle, Type 2j
Tibial Muscular Dystrophy, Tardive	Udd Myopathy TMD Tardive Tibial Muscular Dystrophy Tibial Muscular Dystrophy
Tibial Muscular Dystrophy	Tmd Udd Myopathy Distal Titinopathy Finnish Tibial Muscular Dystrophy Tardive Tibial Muscular Dystrophy Udd Type Distal Myopathy Udd Distal Myopathy Udd-Markesbery Muscular Dystrophy Distal Myopathy, Udd Type Distal Myopathies Tibial Muscular Dystrophy, Tardive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j	Lgmd2j Muscular Dystrophy, Limb-Girdle, Type 2j
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome
Myopathy	Muscular Diseases Myopathies
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Cardiomyopathy, Dilated, 1h	Dilated Cardiomyopathy 1h Dilated Cardiomyopathy With Conduction Defect CMD1H Cardiomyopathy, Dilated, With Conduction Defect
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Arrhythmogenic Right Ventricular Dysplasia 1 Uhl Anomaly Arrhythmogenic Right Ventricular Cardiomyopathy 1 Arvc1 ARVD1 Cardiomyopathy Right Ventricular Dilated Dysplasia, Arrhythmogenic Right Ventricular, Type 1
Rigid Spine Muscular Dystrophy 1	Rigid Spine Syndrome RSMD1 Rss Mdrs1 Eichsfeld Type Congenital Muscular Dystrophy Desmin-Related Myopathy With Mallory Bodies Classic Multiminicore Myopathy Sepn1-Related Myopathy Multicore Myopathy, Severe Classic Form Minicore Myopathy, Severe Classic Form Multiminicore Disease, Severe Classic Form Muscular Dystrophy, Rigid Spine, 1 Classic Mmd Classic Multiminicore Disease Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity Desmin-Related Myopathy With Mallory Body-Like Inclusions Early-Onset Desmin-Related Myopathy Myopathy, Sepn1-Related Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity Muscular Dystrophy, Congenital, Eichsfeld Type Severe Classic Form Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Desmin-Related Myopathies With Mallory Bodies Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity Rigid Spine Muscular Dystrophy-1 Rigid Spine Congenital Muscular Dystrophy Congenital Muscular Dystrophy Eichsfeld Type Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity Minicore Myopathy Severe Classic Form Multicore Myopathy Severe Classic Form Multiminicore Disease Severe Classic Form Dystrophy, Muscular, Rigid Spine, Type 1
Cardiomyopathy, Dilated, 1a	Dilated Cardiomyopathy 1a Cdcd1 CMD1A Cardiomyopathy, Familial Idiopathic Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation Cardiomyopathy, Dilated, With Conduction Defect 1 Cardiomyopathy, Idiopathic Dilated Cardiomyopathy, Congestive Dilated Cardiomyopathy With Conduction Defect 1 Cardiomyopathy Dilated With Conduction Defect Type 1 Cardiomyopathy, Dilated 1a Cardiomyopathy Dilated With Conduction Defect 1 Cardiomyopathy, Dilated, Type 1a
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Cardiomyopathy, Dilated, 1b	Cardiomyopathy, Familial Dilated, 1 Cardiomyopathy, Dilated 1b CMD1B Cmpd1 Cardiomyopathy, Familial Dilated Fdc Dilated Cardiomyopathy 1b Familial Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form	Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form
Familial Isolated Dilated Cardiomyopathy	Familial Or Idiopathic Dilated Cardiomyopathy
Third-Degree Atrioventricular Block	Third Degree Atrioventricular Block Complete Atrioventricular Block Complete Av Block Third-Degree Block Complete Atrioventricular Heart Block Complete Heart Block Third Degree Atrioventricular Heart Block Third Degree Heart Block Complete Heart Block Nos Chb - [Complete Heart Block] Idioventricular Rhythm Av - [Atrioventricular] Block, Complete
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Myocarditis	Myocardial Inflammation Inflammatory Cardiomyopathy
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Left Ventricular Noncompaction 2	LVNC2
Minicore Myopathy With External Ophthalmoplegia	Multiminicore Disease With External Ophthalmoplegia Congenital Multicore Myopathy With External Ophthalmoplegia Minicore Myopathy Multicore Myopathy With External Ophthalmoplegia Multicore Myopathy Multiminicore Myopathy Multicore Myopathy With External Ophthalmoplegia MMDO Myopathy, Minicore, External Ophthalmoplegia
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Myasthenia Gravis	MG Acquired Myasthenia Autoimmune Myasthenia Gravis Erb-Goldflam Disease Mg - [Myasthenia Gravis] Myasthenia Gravis Nos Myasthenia
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Thymoma	Primary Thymic Epithelial Neoplasm Primary Thymic Epithelial Tumor Thymus Neoplasms
Restrictive Cardiomyopathy	Familial Restrictive Cardiomyopathy Cardiomyopathy, Restrictive Cardiomyopathy, Constrictive Primary Restrictive Cardiomyopathy Rcm Cardiomyopathy Restrictive
Cardiomyopathy, Dilated, 1e	Left Ventricular Noncompaction 9 Left Ventricular Noncompaction 5 Dilated Cardiomyopathy 1e Dilated Cardiomyopathy 1s CMD1E Cdcd2 Cardiomyopathy, Dilated, 1y CMD1Y Cardiomyopathy, Dilated, 1s CMD1S Dilated Cardiomyopathy 1y Dilated Cardiomyopathy With Conduction Defect 2 Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia Cardiomyopathy, Dilated, With Conduction Defect 2 Cardiomyopathy Dilated With Conduction Defect Type 2 Cardiomyopathy, Dilated 1e Cardiomyopathy, Dilated 1s Cardiomyopathy, Dilated 1y Left Ventricular Non-Compaction 5 LVNC5 Left Ventricular Non-Compaction 9 LVNC9 Cardiomyopathy, Dilated, Type 1e Cardiomyopathy, Dilated, Type 1s Cardiomyopathy, Dilated, Type 1y
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Miyoshi Muscular Dystrophy	Distal Myopathy Distal Muscular Dystrophy Miyoshi Myopathy Distal Myopathies Dystrophy, Muscular, Miyoshi Myopathy, Distal Distal Muscular Dystrophies
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Scoliosis
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Cortical Thymoma	Polygonal Cell Thymoma Thymoma, Cortical Thymoma, Type B2
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Syndrome Eaton-Lambert Syndrome Lems Lambert Eaton Myasthenic Syndrome Eaton Lambert Syndrome Lambert Eaton Syndrome Myasthenic Syndrome Of Lambert-Eaton Myasthenic-Myopathic Syndrome Of Lambert-Eaton Lems - [Lambert-Eaton Myasthenic Syndrome]
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Foot Drop
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Sick Sinus Syndrome	Sinus Node Dysfunction Sinus Node Disease Sinus Node Infection Snd Sss Snd - [Sinus Node Dysfunction] Sinoatrial Node Dysfunction Sss - [Sick Sinus Syndrome] Sick Sinus Sick Sinus Tachycardia
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Diastolic Heart Failure	Heart Failure, Diastolic
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Muscle Hypertrophy	MSLHP Hypertrophy Hypertrophy, Muscle
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Muscular Dystrophy, Limb-Girdle, Type 2g Lgmd2g LGMDR7 Limb-Girdle Muscular Dystrophy, Type 2g Telethonin-Related Limb-Girdle Muscular Dystrophy R7 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Lgmd Due To Telethonin Deficiency Lgmd Type 2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Limb-Girdle Muscular Dystrophy Type 2g Telethonin-Related Lgmd R7 Limb-Girdle Muscular Dystrophy 2g Dystrophy, Muscular, Limb-Girdle, Type 2g
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
Rhabdomyosarcoma
Uterine Corpus Endometrial Carcinoma
Dendritic Cell Thymoma	Epithelioid Thymoma Type B Thymoma
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Sarcotubular Myopathy Lgmd2h Muscular Dystrophy, Limb-Girdle, Type 2h Limb-Girdle Muscular Dystrophy Type 2h LGMDR8 Muscular Dystrophy Hutterite Type Muscular Dystrophy, Hutterite Type Muscular Dystrophy Limb-Girdle Type 2h Trim32-Related Limb-Girdle Muscular Dystrophy R8 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Lgmd Due To Trim32 Deficiency Lgmd Type 2h Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency Trim32-Related Lgmd R8 Limb-Girdle Muscular Dystrophy 2h Dystrophy, Muscular, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Lgmd2e Muscular Dystrophy, Limb-Girdle, Type 2e LGMDR4 Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycan-Related Lgmd R4 Beta-Sarcoglycanopathy Lgmd Due To Beta-Sarcoglycan Deficiency Lgmd Type 2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy Type 2e Limb-Girdle Muscular Dystrophy 2e
Pulmonary Interstitial Emphysema
Limb-Girdle Muscular Dystrophy Type 1a	Lgmd1a Lgmd1 Muscular Dystrophy, Proximal, Type 1a Limb-Girdle Muscular Dystrophy, Type 1a Dystrophy, Muscular, Limb-Girdle, Type 1a
Peripartum Cardiomyopathy	Postpartum Cardiomyopathy Peripartum Cardiomyopathy, Susceptibility To Ppcm Ppcm, Susceptibility To Antepartum Peripartum Cardiomyopathy Postpartum Peripartum Cardiomyopathy Meadows' Syndrome Cardiomyopathy, Peripartum
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Lgmd2f Muscular Dystrophy, Limb-Girdle, Type 2f Limb-Girdle Muscular Dystrophy Type 2f LGMDR6 Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Delta-Sarcoglycan-Related Lgmd R6 Delta-Sarcoglycanopathy Lgmd Due To Delta-Sarcoglycan Deficiency Lgmd Type 2f Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency Limb-Girdle Muscular Dystrophy 2f Limb-Girdle Muscular Dystrophy, Type 2f Dystrophy, Muscular, Limb-Girdle, Type 2f
Alcoholic Cardiomyopathy	Cardiomyopathy, Alcoholic Alcohol-Induced Heart Muscle Disease Dilated Cardiomyopathy Secondary To Alcohol
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g	Lgmd2g Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency Muscular Dystrophy, Limb-Girdle, Type 2g
Thymus Gland Disease	Disease Of Thymus Gland
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds Idiopathic Ventricular Fibrillation, Brugada Type Sudden Unexplained Death Dream Disease Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sudden Unexplained Death Syndrome Suds Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	Leyden-Moebius Muscular Dystrophy Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Muscular Dystrophy, Limb-Girdle, Type 2a Pelvofemoral Muscular Dystrophy Primary Calpainopathy
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Intrinsic Cardiomyopathy
Axonal Neuropathy
Cardiomyopathy, Dilated, 1dd	Dilated Cardiomyopathy 1dd CMD1DD Cardiomyopathy, Dilated 1dd Cardiomyopathy, Dilated, Type 1dd
Thymus Cancer	Thymic Neoplasm Thymic Tumor Thymus Neoplasm Thymus Neoplasms Malignant Neoplasm Of Thymus Neoplasm Of Thymus Thymic Neoplasms Thymoma, Familial Thymic Carcinoma Thymoma, Type C Cancer Of Thymus Malignant Tumour Of Thymus Primary Malignant Neoplasm Of Thymus Thymic Glandular Cancer Thymus Gland Cancer
Systolic Heart Failure	Heart Failure, Systolic
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Epithelial Malignant Thymoma	Squamoid Thymoma Thymoma, Epithelial Well Differentiated Thymic Carcinoma Thymoma, Type B3
Bilateral Hypoactive Labyrinth	Hypoactive Bilateral Labyrinthine Dysfunction Hypoactive Labyrinth, Bilateral
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Myopathy, Myofibrillar, 1	Desmin-Related Myofibrillar Myopathy Desmin-Related Myopathy MFM1 Myopathy, Myofibrillar, Desmin-Related Drm Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy Myofibrillar Myopathy 1 Desminopathy Muscular Dystrophy, Limb-Girdle, Type 2r Arrhythmogenic Right Ventricular Dysplasia, Familial, 7 Desminopathy, Primary Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly Arvd7, Formerly Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly Arvc7, Formerly Inclusion Body Myopathy 1, Autosomal Dominant, Formerly Ibm1, Formerly Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly Cmd1f And Lgmd1d, Formerly Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy Cdcd3, Formerly Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly Lgmd2r, Formerly Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r Arrhythmogenic Right Ventricular Cardiomyopathy 7 Arvc7 Arvd7 Autosomal Dominant Inclusion Body Myopathy 1 Cdcd3 Cmd1f And Lgmd1d Desminopathy Primary Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy Familial Arrhythmogenic Right Ventricular Dysplasia 7 Lgmd2r Limb-Girdle Muscular Dystrophy 2r Mfm Desmin-Related Myopathy Myofibrillar Desmin-Related Dystrophy, Muscular, Limb-Girdle, Type 2r
First-Degree Atrioventricular Block	First Degree Atrioventricular Block First Degree Heart Block Incomplete Atrioventricular Block, First Degree First Degree Atrioventricular Heart Block
Meconium Aspiration Syndrome	Neonatal Aspiration Of Meconium Meconium Aspiration Mas Meconium Aspiration Syndrome Of Newborn Meconium Inhalation Mas - [Meconium Aspiration Syndrome] Meconium Aspiration Nos Meconium Aspiration Syndrome Nos Meconium Pneumonitis Meconium Stained Liqueur Aspiration
Hyaline Body Myopathy	Myosin Storage Myopathy Autosomal Dominant Hyaline Body Myopathy Myopathy, Myosin Storage
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Constrictive Pericarditis	Pericarditis, Constrictive Pericarditis Constrictive Pericarditis Calculosa Hutinel-Pick Syndrome Chronic Tamponade Chronic Pericardial Constriction Pick Syndrome Of Heart Pick Disease Of Heart Concretio Cordis Calcareous Pericarditis
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Cardiomyopathy, Familial Hypertrophic, 4	Hypertrophic Cardiomyopathy 4 CMH4 Cardiomyopathy, Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic 4 Cardiomyopathy, Familial Hypertrophic, 4, Susceptibility To Cardiomyopathy, Hypertrophic, Familial, Type 4
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Myopathy, Myofibrillar, 3	Myotilinopathy Myofibrillar Myopathy 3 MFM3 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Lgmd1a Muscular Dystrophy, Limb-Girdle, Type 1a Myopathy, Myofibrillar, Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1, Formerly Lgmd1, Formerly Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly Lgmd1a, Formerly Qualitative Or Quantitative Defects Of Myotilin Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency Distal Myotilinopathy Lgmd1 Limb-Girdle Muscular Dystrophy 1a Mfm Myotilin-Related Muscular Dystrophy, Limb-Girdle, Type 1 Myopathy Myofibrillar Myotylin-Related Myopathy, Myofibrillar, Type 3
Newborn Respiratory Distress Syndrome	Hyaline Membrane Disease Respiratory Distress Syndrome Of Newborn Neonatal Respiratory Distress Hmd - Hyaline Membrane Disease Neonatal Respiratory Distress Syndrome Pulmonary Hyaline Membrane Disease Pulmonary Hypoperfusion Syndrome Of Newborn Respiratory Distress Syndrome, Newborn Respiratory Distress Syndrome Cardiorespiratory Distress Syndrome Of Newborn Distress Respiratory Syndrome Newborn Idiopathic Respiratory Distress Syndrome Idiopathic Respiratory Distress Syndrome Of Newborn Newborn Idiopathic Respiratory Distress Syndrome Respiratory Distress Syndrome In Newborn Rds - [Respiratory Distress Syndrome] Of Newborn Newborn Cardiorespiratory Distress Syndrome
Left Bundle Branch Hemiblock	Left Bundle Branch Block Left Bundle-Branch Block
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Myopathy, Myofibrillar, 2	Alpha-B Crystallinopathy Myofibrillar Myopathy 2 MFM2 Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy Alpha-B Crystallin-Related Late-Onset Myopathy Alpha-B Crystallin-Related Late-Onset Distal Myopathy Late-Onset Distal Crystallinopathy Alpha-B Crystallinopathy With Cataract Desmin-Related Myopathy With Cataract Mfm Alpha-B Crystallin-Related Myofibrillar Myopathy Alpha-B Crystallin-Related Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy Myopathy Cardioskeletal Desmin-Related With Cataract Myopathy Desmin-Related Associated With Mutation In The Cryab Gene Myopathy, Cardioskeletal, Desmin-Related, With Cataract Myopathy, Myofibrillar, Type 2
Hypertensive Heart Disease
Congenital Structural Myopathy
Myopathy, Myofibrillar, 4	Myofibrillar Myopathy 4 MFM4 Zaspopathy Myopathy, Myofibrillar, Zasp-Related
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Muscle Tissue Disease
Muscular Dystrophy, Duchenne Type	Duchenne Muscular Dystrophy DMD Muscular Dystrophy, Duchenne Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Severe Dystrophinopathy, Duchenne Type Muscular Dystrophy Duchenne Dystrophy, Muscular, Duchenne Type Benign Duchenne Muscular Dystrophy Duchenne Motor Neuron Disease Duchenne Type Dystrophy Duchenne-Griesinger Disease
Cardiac Sarcoidosis
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Mitral Valve Disease	Chronic Rheumatic Mitral Valve Rheumatic Mitral Insufficiency Disease Of Mitral Valve Mitral Rh Valve Dis. Rheumatic Disease Of Mitral Valve Rheumatic Mitral Valve Changes Rheumatic Mitral Valve Incompetence Rheumatic Mitral Valve Regurgitation Abnormality Of The Mitral Valve Diseases Of Mitral Valve Rheumatic Mitral Regurgitation
Mitral Valve Insufficiency	Mitral Regurgitation Congenital Insufficiency Of Mitral Valve Congenital Mitral Insufficiency Congenital Mitral Regurgitation Mitral Valve Incompetence Mitral Valve Regurgitation Mr - [Mitral Regurgitation] Mi - [Mitral Incompetence] Mitral Valve Annular Incompetency Congenital Mitral Valve Incompetence Congenital Mitral Valve Insufficiency Congenital Mitral Valve Regurgitation Congenital Mitral Incompetence
Muscular Dystrophy, Becker Type	Becker Muscular Dystrophy BMD Benign Pseudohypertrophic Muscular Dystrophy Benign Congenital Myopathy Becker Dystrophinopathy Becker'S Muscular Dystrophy Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type Muscular Dystrophy Becker Dystrophy, Muscular, Becker Type Dystrophinopathy Becker Dystrophy Becker Type Dystrophy Bmd - [Becker Muscular Dystrophy]
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Muscular Disease
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Tricuspid Valve Disease	Rheumatic Tricuspid Valve Disease Disease Of Tricuspid Valve Rh. Tricuspid Valve Disease Rheumatic Disease Of Tricuspid Valve Tricuspid Disease Tricuspid Valve Disorder
Neuromuscular Junction Disease	Neuromuscular Junction Diseases
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Extrinsic Cardiomyopathy
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic Palmoplantar Keratoderma NEPPK Tylosis Unna-Thost Syndrome Keratoderma, Palmoplantar, Diffuse Ppkne Keratoderma, Nonepidermolytic Palmoplantar Diffuse Nonepidermolytic Palmomplantar Keratoderma Thost-Unna Syndrome Non-Epidermolytic Palmoplantar Keratoderma Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type Diffuse Palmoplantar Keratoderma, Bothnian Type Krt1-Related Diffuse Nonepidermolytic Keratoderma Krt1-Related Diffuse Neppk Keratoderma, Palmoplantar, Non-Epidermolytic Nonepidermolytic Unna-Thost Disease Non-Epidermolytic Unna-Thost Disease Keratoderma, Palmoplantar, Nonepidermolytic Hyperkeratosis
Heart Valve Disease	Heart Valve Diseases Valvular Heart Disease Valvular Heart Diseases Heart Valve Prolapse
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Aortic Valve Disease 2	Aortic Valve Stenosis Aortic Stenosis Rheumatic Aortic Stenosis AOVD2 Bicuspid Aortic Valve Rheumatic Aortic Valve Stenosis Valvular Aortic Stenosis Aortic Valve Disease, Type 2 Aortic Valve Stricture Aortic Valve Obstruction Obstructed Aorta Valve Rheumatic Aortic Obstruction Rheumatic Aortic Valve Obstruction Rheumatic Aortic Stricture Aortic Valve Regurgitation Aortic Insufficiency With Stenosis Rheumatic Aortic Valve Stenosis With Insufficiency Rheumatic Aortic Stenosis With Incompetence Rheumatic Aortic Stenosis With Regurgitation
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Cardiac Tuberculosis	Tuberculosis, Cardiovascular Cardiovascular Tuberculosis
Hypermethioninemia Due To Adenosine Kinase Deficiency	Adk Hypermethioninemia Hypermethioninemia Encephalopathy Due To Adenosine Kinase Deficiency Hypermethioninemia Encephalopathy Due To Adk Deficiency Mrt8 Mental Retardation, Autosomal Recessive 8, Formerly Mrt8, Formerly HMAKD Mental Retardation, Autosomal Recessive 8
Mitochondrial Dna Depletion Syndrome 12b
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Familial Woolly Hair Syndrome	Wooly Hair Familial Wooly Hair Syndrome Hereditary Woolly Hair Syndrome Hereditary Wooly Hair Syndrome Woolly Hair Syndrome With Woolly Hair Wooly Hair Syndrome
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Isolated Elevated Serum Creatine Phosphokinase Levels	Elevated Serum Cpk Idiopathic Hyperckemia Isolated Hyperckemia Elevated Serum Creatine Phosphokinase H-Ck Idiopathic Persistent Elevation Of Serum Creatine Kinase
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15238	TTR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS15235	TTN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18333	Ttn Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23458	Dbi Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24812	Ttn Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TTN	VGNC	VGNC:53109
Bos taurus	TTN	VGNC	VGNC:56153
Rattus norvegicus	TTN	RGD	RGD:621114
Mus musculus	TTN	MGD	MGI:98864
Others	TTN	NCBI