MYBPC3 - myosin binding protein C3 Gene

Also Known as FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4607

About MYBPC3

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,331,406-47,352,702 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues, 11 paralogues and is associated with 6 phenotypes. Restricted expression toward heart (RPKM 426.0).

Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

MYBPC3 Products (1)

mRNA Protein Name
NM_000256.3 NP_000247.2 myosin-binding protein C, cardiac-type
Molecular Function GO Annotation Evidence Verweise Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
18201573 GOA
enables myosin binding IDA
IDA: Inferred from direct assay
10024460 GOA
enables myosin heavy chain binding IPI
IPI: Inferred from physical interaction
17192269 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21569246 GOA
enables structural constituent of muscle IMP
IMP: Inferred from mutant phenotype
7493025 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in heart morphogenesis IMP
IMP: Inferred from mutant phenotype
7493025 GOA
involved in ventricular cardiac muscle tissue morphogenesis IMP
IMP: Inferred from mutant phenotype
11815426 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in A band IDA
IDA: Inferred from direct assay
10024460 GOA
located in cardiac myofibril IDA
IDA: Inferred from direct assay
25771144 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
10024460 GOA
located in striated muscle myosin thick filament IDA
IDA: Inferred from direct assay
10024460 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

MYBPC3 Protein Structure

I-set

I-set: Immunoglobulin I-set domain (11 - 85)

I-set

I-set: Immunoglobulin I-set domain (157 - 256)

I-set

I-set: Immunoglobulin I-set domain (365 - 439)

I-set

I-set: Immunoglobulin I-set domain (456 - 527)

I-set

I-set: Immunoglobulin I-set domain (548 - 616)

I-set

I-set: Immunoglobulin I-set domain (655 - 768)

fn3

fn3: Fibronectin type III domain (773 - 858)

fn3

fn3: Fibronectin type III domain (871 - 954)

I-set

I-set: Immunoglobulin I-set domain (981 - 1062)

fn3

fn3: Fibronectin type III domain (1067 - 1148)

I-set

I-set: Immunoglobulin I-set domain (1181 - 1270)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1274 a.a.
Protein Preferred Names Protein Names

myosin-binding protein C, cardiac-type

  • myosin binding protein C, cardiac

MYBPC3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
MYBPC3 Q14896 PDE4DIP Homo sapiens Q5VU43-11 21569246
Intra
MYBPC3 Q14896 PDE4DIP Homo sapiens Q5VU43-11
IF
21569246
Intra
MYBPC3 Q14896 MYH7 Homo sapiens P12883
Y2H
23980194
Intra
MYBPC3 Q14896 MYBPC3 Homo sapiens Q14896
Y2H
18201573
Intra
MYBPC3 Q14896 TRIM63 Homo sapiens Q969Q1
Y2H
18157088
Intra
MYBPC3 Q14896 ACTC1 Homo sapiens P68032
Y2H
23980194
Intra
MYBPC3 Q14896 MYBPC3 Homo sapiens Q14896
SPR
18201573
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MYBPC3 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P71532 MYBPC3 Protein, Human (His-SUMO) Q14896-1 (M1-A328) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P71532A MYBPC3 Protein, Human (HEK293, His) Q14896-1 (M1-A328) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

Left Ventricular Noncompaction 10
  • LVNC10

  • Cardiomyopathy, Dilated, 1mm

  • Dilated Cardiomyopathy 1mm

  • Cardiomyopathy, Dilated 1mm

  • CMD1MM

  • Left Ventricular Non-Compaction 10

  • Ventricular Noncompaction, Left, Type 10

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

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

Cardiac Conduction Defect
  • Sudden Cardiac Death

  • Cardiac Conduction Defect, Susceptibility To

  • SCD

  • Cardiac Conduction Abnormality

  • Death Sudden Cardiac

  • Cardiac Conduction Disease

  • Conduction Disorder Of The Heart

Heart Conduction Disease
  • Conduction Disorder Of The Heart

  • Heart Rhythm Disease

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

Cardiomyopathy, Dilated, 1b
  • Cardiomyopathy, Familial Dilated, 1

  • Cardiomyopathy, Dilated 1b

  • CMD1B

  • Cmpd1

  • Cardiomyopathy, Familial Dilated

  • Fdc

  • Dilated Cardiomyopathy 1b

  • Familial Dilated Cardiomyopathy

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

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

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

Familial Isolated Dilated Cardiomyopathy
  • Familial Or Idiopathic Dilated Cardiomyopathy

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

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

Cardiomyopathy, Dilated, 1h
  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect

Restrictive Cardiomyopathy
  • Familial Restrictive Cardiomyopathy

  • Cardiomyopathy, Restrictive

  • Cardiomyopathy, Constrictive

  • Primary Restrictive Cardiomyopathy

  • Rcm

  • Cardiomyopathy Restrictive

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

Lethal Congenital Contracture Syndrome 4
  • LCCS4

  • Contracture Syndrome, Lethal, Congenital, Type 4

Intrinsic Cardiomyopathy
Osteopetrosis, Autosomal Recessive 8
  • Autosomal Recessive Osteopetrosis 8

  • OPTB8

  • Osteopetrosis, Autosomal Recessive, Type 8

Cardiofaciocutaneous Syndrome 1
  • Cardiofaciocutaneous Syndrome

  • Cfc Syndrome

  • Cardio-Facio-Cutaneous Syndrome

  • CFC1

  • Cfcs

  • Cardio-Facial-Cutaneous Syndrome

  • Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure

  • Cardiofaciocutaneous Syndrome, Type 1

Danon Disease
  • Pseudoglycogenosis Ii

  • Antopol Disease

  • Glycogen Storage Disease Iib

  • Glycogen Storage Disease Type 2b

  • Glycogen Storage Disease Type Iib

  • Gsd2b

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

  • Vacuolar Cardiomyopathy And Myopathy X-Linked

  • Vacuolar Cardiomyopathy And Myopathy, X-Linked

  • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

  • Gsd2b, Formerly

  • Gsd Iib, Formerly

  • Glycogen Storage Cardiomyopathy

  • Glycogen Storage Disease Limited To The Heart

  • Pseudoglycogenosis 2

  • X-Linked Vacuolar Cardiomyopathy And Myopathy

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase

  • Glycogen Storage Disease Due To Lamp-2 Deficiency

  • Gsd Due To Lamp-2 Deficiency

  • Glycogenosis Due To Lamp-2 Deficiency

  • Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

  • DAND

  • Gsd-Iib

Cardiomyopathy, Familial Hypertrophic, 25
  • Hypertrophic Cardiomyopathy 25

  • CMH25

  • Cardiomyopathy, Hypertrophic, 25

  • Cardiomyopathy Familial Hypertrophic 25

  • Cardiomyopathy, Familial Hypertrophic 25

  • Cardiomyopathy, Hypertrophic, Type 25

Hereditary Spastic Paraplegia 72
  • Autosomal Spastic Paraplegia Type 72

  • Spg72

  • Spastic Paraplegia 72, Autosomal Recessive

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

Atrial Standstill 1
  • ATRST1

  • Atrial Cardiomyopathy With Heart Block

  • Cardiomyopathy, Familial, With Conduction Disturbance

  • Atrial Standstill, Digenic

  • Familial Cardiomyopathy With Conduction Disturbance

  • Standstill, Atrial, Type 1

  • Heart Block

  • Cardiomyopathies

  • Idiopathic Cardiomyopathy

  • Idiopathic Cardiopathy

  • Primary Myocardial Disease

  • Primary Cardiomyopathy

  • Myocardiopathy

  • Myocardosis

  • Primary Idiopathic Myocardial Disease

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

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

Peripartum Cardiomyopathy
  • Postpartum Cardiomyopathy

  • Peripartum Cardiomyopathy, Susceptibility To

  • Ppcm

  • Ppcm, Susceptibility To

  • Antepartum Peripartum Cardiomyopathy

  • Postpartum Peripartum Cardiomyopathy

  • Meadows' Syndrome

  • Cardiomyopathy, Peripartum

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

Diastolic Heart Failure
  • Heart Failure, Diastolic

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

Mitochondrial Dna Depletion Syndrome 12b
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

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

Left Bundle Branch Hemiblock
  • Left Bundle Branch Block

  • Left Bundle-Branch Block

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

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]

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

Endomyocardial Fibrosis
  • Becker'S Disease

  • Obscure African Cardiomyopathy

  • African Endomyocardial Fibrosis

  • Endomyocardial Sclerosis

  • EMF

  • Becker Muscular Dystrophy

Systolic Heart Failure
  • Heart Failure, Systolic

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Amyloidosis, Hereditary, Transthyretin-Related
  • Transthyretin Amyloidosis

  • Familial Amyloid Polyneuropathy

  • Ttr Amyloid Neuropathy

  • Transthyretin Amyloid Neuropathy

  • Transthyretin Amyloid Polyneuropathy

  • Fap

  • Familial Transthyretin Amyloidosis

  • Amyloidosis Transthyretin Related

  • Type I Familial Amyloid Polyneuropathy

  • Familial Amyloid Polyneuropathy Type I

  • Attrv122i Amyloidosis

  • Hereditary Amyloidosis, Transthyretin-Related

  • Amyloid Polyneuropathy, Familial

  • Attr Amyloidosis

  • Attrm Amyloidosis

  • Corino De Andrade'S Disease

  • Paramyloidosis

  • Transthyretin-Related Hereditary Amyloidosis

  • Ttr Amyloidosis

  • Hereditary Attr Amyloidosis

  • Portuguese Polyneuritic Amyloidosis

  • Portuguese Type Familial Amyloid Neuropathy

  • Swiss Type Amyloid Polyneuropathy

  • Type Ii Familial Amyloid Polyneuropathy

  • Attrv30m Amyloidosis

  • Attrv30m-Related Amyloidosis

  • Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type

  • Attr Cardiomyopathy

  • Attrv122i-Related Amyloidosis

  • Ttr-Related Amyloid Cardiomyopathy

  • Ttr-Related Cardiac Amyloidosis

  • Transthyretin Amyloid Cardiopathy

  • Transthyretin-Related Familial Amyloid Cardiomyopathy

  • Amyloidosis, Transthyretin-Related

  • AMYL-TTR

  • Amyloidosis I

  • Amyloidosis Ohio Type

  • Amyloidosis Type 7

  • Amyloidosis Vii

  • Amyloid Polyneuropathy

  • Attr

  • Familial Amyloid Polyneuropathy Type Ii

  • Hereditary Amyloidosis Transthyretin-Related

  • Leptomeningeal Amyloidosis

  • Meningocerebrovascular Amyloidosis

  • Oculoleptomeningeal Amyloidosis

  • Familial Amyloid Polyneuropathies

  • Amyloidosis, Leptomeningeal

  • Senile Cardiac Amyloidosis

  • Amyloid Neuropathies, Familial

  • Danish Type Familial Amyloid Cardiomyopathy

  • Familial Amyloid Neuropathy, Portuguese Type

  • Amyloid Polyneuropathy, Swiss Type

  • Hereditary Oculoleptomeningeal Amyloid Angiopathy

  • Amyloid Neuropathies

Cardiomyopathy, Infantile Hypertrophic
  • Infantile Hypertrophic Cardiomyopathy

  • CMHI

Heart Valve Disease
  • Heart Valve Diseases

  • Valvular Heart Disease

  • Valvular Heart Diseases

  • Heart Valve Prolapse

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

Noonan Syndrome With Multiple Lentigines
  • Leopard Syndrome

  • Multiple Lentigines Syndrome

  • Moynahan Syndrome

  • Cardiomyopathic Lentiginosis

  • Progressive Cardiomyopathic Lentiginosis

  • Cardio-Cutaneous Syndrome

  • Lentiginosis Profusa

  • Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome

  • Generalized Lentiginosis

  • Gorlin Syndrome Ii

  • Lentiginosis Profusa Syndrome

  • Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes

  • Diffuse Lentiginosis

  • Nsml

  • Familial Multiple Lentigines Syndrome

  • Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type

  • Progressive Cardiomyopathic Lentiginosis Syndrome

  • Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

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

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]

Long Qt Syndrome 2
  • LQT2

  • Long Qt Syndrome, Acquired, Reduced Susceptibility To

  • Long Qt Syndrome 1/2

  • Long Qt Syndrome 2/3

  • Long Qt Syndrome 2/5

  • Long Qt Syndrome 2, Acquired, Susceptibility To

  • Long Qt Syndrome, Acquired, Reduced

  • Long Qt Syndrome Type 2

  • Long Qt Syndrome 2/9

  • Lqt1/2

  • Lqt2/3

  • Lqt2/5

  • Lqt2/9

  • Susceptibility To Acquired Long Qt Syndrome 2

  • Long Qt Syndrome-2

  • Qt Syndrome, Long, Type 2

  • Long Qt Syndrome 1-2

  • Long Qt Syndrome 2-3

  • Long Qt Syndrome 2-5

  • Long Qt Syndrome 9

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

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

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

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]

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

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

Familial Atrial Fibrillation
  • Atrial Fibrillation, Familial

  • Atfb

  • Atrial Fibrillation Autosomal Dominant

  • Autosomal Dominant Atrial Fibrillation

  • Auricular Fibrillation

  • Atrial Fibrillation

  • Atrial Fibrillation, Familial, 1

Noonan Syndrome 1
  • Noonan Syndrome

  • NS1

  • Male Turner Syndrome

  • Female Pseudo-Turner Syndrome

  • Turner Phenotype With Normal Karyotype

  • Noonan Syndrome With Pigmented Villonodular Synovitis

  • Turner'S Phenotype, Karyotype Normal

  • Familial Turner Syndrome

  • Noonan'S Syndrome

  • Noonan-Ehmke Syndrome

  • Ns

  • Pseudo-Ullrich-Turner Syndrome

  • Turner Syndrome In Female With X Chromosome

  • Turner-Like Syndrome

  • Ullrich-Noonan Syndrome

  • Noonan-Like/Multiple Giant Cell Lesion Syndrome

  • Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

  • Pterygium Colli Syndrome

  • Noonan Syndrome, Type 1

  • Turner Syndrome, Male

Chromosome 1p36 Deletion Syndrome
  • 1p36 Deletion Syndrome

  • Deletion 1p36

  • Monosomy 1p36

  • Subtelomeric 1p36 Deletion

  • Monosomy 1p36 Syndrome

  • Distal Monosomy 1p36

  • Del(1)(P36)

  • Deletion 1pter

  • Monosomy 1pter

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta MYBPC3 VGNC VGNC:75094
Canis familiaris MYBPC3 VGNC VGNC:43524
Mus musculus MYBPC3 MGD MGI:102844
Rattus norvegicus MYBPC3 RGD RGD:1305950
Felis catus MYBPC3 VGNC VGNC:68375
Bos taurus MYBPC3 VGNC VGNC:31781
Others MYBPC3 NCBI