Testing Criteria

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Testing criteria Disorders Genes Date
Cantu Syndrome
  • Cantu Syndrome
    • Hypertrichotic Osteochondrodysplasia
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
2013
Carbohydrate Metabolism Disorders Including Glycogen Storage Diseases 32 Gene Panel
  • Congenital Disorder Of Glycosylation, Type It
    • CDG It
    • Glycogen Storage Disease XIV
    • PGM1 Deficiency
    • Phosphoglucomutase 1 Deficiency
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • Fanconi-Bickel Syndrome
    • Fanconi Syndrome With Intestinal Malabsorption And Galactose Intolerance
    • Glycogen Storage Disease XI
    • Glycogenosis, Fanconi Type
    • Hepatic Glycogenosis With Amino Aciduria And Glucosuria
    • Hepatic Glycogenosis With Fanconi Nephropathy
    • Hepatorenal Glycogenosis With Renal Fanconi Syndrome
    • Pseudo-Phlorizin Diabetes
  • Fructose-1,6-Bisphosphatase Deficiency
  • Galactokinase Deficiency
    • Galactosemia II
    • GALK Deficiency
  • Galactose Epimerase Deficiency
    • Galactosemia III
    • Gale Deficiency
    • Udp-Galactose-4-Epimerase Deficiency
  • Galactosemia
    • Galactosaemia
    • Galactose-1-Phosphate Uridylyltransferase Deficiency
    • Galactosemia, Classic
    • Galt Deficiency
  • GLUT1 Deficiency Syndrome 1
    • Glucose Transport Defect, Blood-Brain Barrier
  • GLUT1 Deficiency Syndrome 2
    • Dystonia 18
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exercise-Induced Dyskinesia With Or Without Epilepsy And/Or Hemolytic Anemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anaemia
    • Paroxysmal Exertion-Induced Dystonia With Or Without Epilepsy And/Or Hemolytic Anemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anaemia
    • PED With Or Without Epilepsy And/Or Hemolytic Anemia
  • Glycogen Storage Disease 0, Liver
    • Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver
    • Liver Glycogen Storage Disease 0
    • Liver Glycogen Synthase Deficiency
  • Glycogen Storage Disease 0, Muscle
    • Muscle Glycogen Storage Disease 0
    • Muscle Glycogen Synthase Deficiency
  • Glycogen Storage Disease Ia
    • G6pt, Formerly, Included
    • Glucose-6-Phosphatase Deficiency
    • Glucose-6-Phosphatase, Catalytic, Included
    • Glycogen Storage Disease I
    • Hepatorenal Form Of Glycogen Storage Disease
    • Hepatorenal Glycogenosis
    • Von Gierke Disease
  • Glycogen Storage Disease Ib
    • Glucose-6-Phosphate Transport Defect
    • GSD1b
  • Glycogen Storage Disease Ic
    • Glycogen Storage Disease Id, Included
  • Glycogen Storage Disease III
    • Agl Deficiency
    • Amylo-1,6-Glucosidase Deficiency
    • Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase, Included
    • Cori Disease
    • Forbes Disease
    • Gde Deficiency
    • Glycogen Debrancher Deficiency
    • Glycogen Debrancher Enzyme, Included
    • Glycogen Debranching Deficiency
    • Limit Dextrinosis
  • Glycogen Storage Disease IV
    • Amylopectinosis
    • Andersen Disease
    • Brancher Deficiency
    • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen
    • Gbe1 Deficiency
    • Glycogen Branching Enzyme Deficiency
    • Glycogenosis IV
  • Glycogen Storage Disease IXa1
    • Glycogen Storage Disease VIII, Formerly
    • Gsd VIII, Formerly
    • Liver Glycogenosis, X-Linked, Type I
  • Glycogen Storage Disease IXb
    • Glycogenosis Of Liver And Muscle, Autosomal Recessive
    • Phosphorylase Kinase Deficiency Of Liver And Muscle, Autosomal Recessive
  • Glycogen Storage Disease IXc
  • Glycogen Storage Disease Of Heart, Lethal Congenital
    • Glycogen Storage Disease Of Heart
    • Phosphorylase Kinase Deficiency Of Heart
  • Glycogen Storage Disease V
    • Mcardle Disease
    • Muscle Glycogen Phosphorylase Deficiency
    • Myophosphorylase Deficiency
    • Pygm Deficiency
  • Glycogen Storage Disease VI
    • Hers Disease
    • Phosphorylase Deficiency Glycogen-Storage Disease Of Liver
  • Glycogen Storage Disease VII
    • Muscle Phosphofructokinase Deficiency
    • Pfkm Deficiency
    • Tarui Disease
  • Glycogen Storage Disease X
    • Myopathy Due To Phosphoglycerate Mutase Deficiency
    • Pgamm Deficiency
    • Phosphoglycerate Mutase, Muscle, Deficiency Of
  • Glycogen Storage Disease XI
    • Lactate Dehydrogenase A Deficiency
  • Glycogen Storage Disease XII
    • Aldoa Deficiency
    • Aldolase A Deficiency
    • Aldolase Deficiency, Red Cell
    • Red Cell Aldolase Deficiency
  • Glycogen Storage Disease XIII
    • Enolase 3 Deficiency
    • Enolase-Beta Deficiency
  • Glycogen Storage Disease XV
    • Glycogenin Deficiency
    • GYG1 Deficiency
  • Glycogen Storage Disease, Type IXd
    • Muscle Glycogenosis, X-Linked
    • Muscle Phosphorylase Kinase Deficiency
  • Myoclonic Epilepsy Of Lafora
    • Epilepsy, Progressive Myoclonic 2A
    • Lafora Body Disease
    • Lafora Disease
  • Neutropenia, Severe Congenital, 4, Autosomal Recessive
  • Phosphoglycerate Kinase 1 Deficiency
    • PGK1 Deficiency
  • 1,4-alpha-glucan branching enzyme 1
    • amylo-(1,4 to 1,6) transglucosidase
    • amylo-(1,4 to 1,6) transglycosylase
    • glucan (1,4-alpha-), branching enzyme 1
    • glycogen branching enzyme
  • 24-dehydrocholesterol reductase
    • seladin-1
  • aldolase, fructose-bisphosphate A
    • aldolase 1
    • aldolase A
    • aldolase A, fructose-bisphosphate
    • fructoaldolase A
    • fructose-1,6-bisphosphate aldolase A
  • amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
    • amylo-1, 6-glucosidase, 4-alpha-glucanotransferase
    • glycogen debranching enzyme
    • glycogen storage disease type III
  • enolase 3
    • enolase 3
    • enolase 3
    • enolase 3 (beta, muscle)
    • enolase 3, (beta, muscle)
    • enolase, beta
    • enolase, muscle-specific
  • EPM2A, laforin glucan phosphatase
    • epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
    • epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
    • EPM2A gene
    • laforin
  • fructose-bisphosphatase 1
    • fructose-1,6-bisphosphatase 1
    • fructose-1,6-bisphosphatase, Liver
    • fructose-1,6-diphosphatase
  • galactokinase 1
  • galactose-1-phosphate uridylyltransferase
  • glucose-6-phosphatase, catalytic subunit
    • glucose-6-phosphatase, catalytic (glycogen storage disease type i, von gierke disease
    • glucose-6-phosphatase, catalytic, 1
  • glucose-6-phosphatase, catalytic subunit 3
    • glucose-6-phosphatase, catalytic, 3
  • glycogen phosphorylase L
    • glycogen storage disease type VI
    • hers disease
    • phosphorylase, glycogen, liver
  • glycogen phosphorylase, muscle associated
    • myophosphorylase
    • phosphorylase, glycogen, muscle
  • glycogen synthase 1
    • glycogen synthase 1 (muscle)
  • glycogen synthase 2
    • glycogen synthase 2 (liver)
    • glycogen synthase, liver
    • liver glycogen synthase
  • glycogenin 1
    • glycogenin
  • lactate dehydrogenase A
    • IDH, subunit M
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • NHL repeat containing E3 ubiquitin protein ligase 1
    • EPM2B gene
    • malin
    • NHL repeat containing 1
    • NHL repeat-containing 1 gene
  • phosphofructokinase, muscle
    • PFK, muscle type
    • phosphofructokinase, polypeptide x
  • phosphoglucomutase 1
  • phosphoglycerate kinase 1
    • 3-phosphoglycerokinase
  • phosphoglycerate mutase 2
    • phosphoglycerate mutase 2 (muscle)
    • phosphoglycerate mutase, muscle
  • phosphorylase kinase regulatory subunit, alpha 1
    • phosphorylase kinase, muscle, alpha-1 subunit
    • phosphorylase kinase, alpha 1 (muscle)
  • phosphorylase kinase regulatory subunit, alpha 2
    • phosphorylase kinase, alpha 2 (liver)
  • phosphorylase kinase regulatory subunit, beta
    • phosphorylase kinase, beta
  • phosphorylase kinase regulatory subunit, gamma 1
    • phosphorylase kinase, gamma 1 (muscle)
  • phosphorylase kinase regulatory subunit, gamma 2
    • phosphorylase kinase, gamma 2 (testis)
    • phosphorylase kinase, testis/liver, gamma-2
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • solute carrier family 2 member 1
    • erythrocyte/hepatoma glucose transporter
    • glucose transporter 1
    • solute carrier family 2 (facilitated glucose transporter), member 1
  • solute carrier family 2 member 2
    • glucose transporter 2
    • glucose transporter, liver/islet
    • solute carrier family 2 (facilitated glucose transporter) member 2
  • solute carrier family 37 member 4
    • g6p translocase
    • glucose-6-phosphate translocase
    • glucose-6-phosphate transporter 1
    • GSD1b
    • GSD1c
    • GSD1d
    • solute carrier family 37 (glucose-6-phosphate transporter) member 4
    • solute carrier family 37 (glycerol-6-phosphate transporter), member 4
  • UDP-galactose-4-epimerase
2015
Cardiomyopathies (CM) 36 Gene Panel
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
    • Arrhythmogenic Right Ventricular Cardiomyopathy 10
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
    • Arrhythmogenic Right Ventricular Cardiomyopathy 12
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
    • Arrhythmogenic Right Ventricular Cardiomyopathy 13
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
    • Arrhythmogenic Right Ventricular Cardiomyopathy 5
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
    • Arrhythmogenic Right Ventricular Cardiomyopathy 8
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
    • Arrhythmogenic Right Ventricular Cardiomyopathy 9
  • Atrial Fibrillation, Familial, 12
  • Atrial Septal Defect 3
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1AA, With Or Without Left Ventricular Noncompaction;
    • Cardiomyopathy, Familial Hypertrophic, 23, With Or Without Ventricular Noncompaction, Included;
  • Cardiomyopathy, Dilated, 1BB
  • Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
    • Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction; CMD1C
    • Cardiomyopathy, Familial Hypertrophic, 24, Included; CMH24, Included
  • Cardiomyopathy, Dilated, 1CC
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1DD
  • Cardiomyopathy, Dilated, 1EE
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1I
  • Cardiomyopathy, Dilated, 1J
    • Cardiomyopathy, Dilated, With Sensorineural Hearing Loss, Autosomal Dominant
  • Cardiomyopathy, Dilated, 1KK
    • Cardiomyopathy, Familial Hypertrophic, 22
    • Cardiomyopathy, Familial Restrictive, 4
  • Cardiomyopathy, Dilated, 1L
  • Cardiomyopathy, Dilated, 1M
  • Cardiomyopathy, Dilated, 1NN
  • Cardiomyopathy, Dilated, 1O
    • Cardiomyopathy, Dilated, With Ventricular Tachycardia
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1T
  • Cardiomyopathy, Dilated, 1W
  • Cardiomyopathy, Dilated, 1Y
    • Left Ventricular Noncompaction 9
  • Cardiomyopathy, Dilated, 1Z
  • Cardiomyopathy, Dilated, 2A
    • Cardiomyopathy, Congestive, Autosomal Recessive
    • Cardiomyopathy, Dilated, Autosomal Recessive
  • Cardiomyopathy, Dilated, 2B
  • Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
    • Cardiogenital Syndrome
    • Cardiomyopathy With Primary Testicular Failure
    • Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
    • Cardiomyopathy, Dilated, With Premature Ovarian Failure
    • Genital Anomaly With Cardiomyopathy
    • Malouf Syndrome
    • Najjar Syndrome
  • Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
    • Dilated Cardiomyopathy With Woolly Hair, Keratoderma, And Tooth Agenesis
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cardiomyopathy, Familial Hypertrophic, 10
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 12
  • Cardiomyopathy, Familial Hypertrophic, 13
  • Cardiomyopathy, Familial Hypertrophic, 14
  • Cardiomyopathy, Familial Hypertrophic, 15
  • Cardiomyopathy, Familial Hypertrophic, 16
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 2
  • Cardiomyopathy, Familial Hypertrophic, 20
  • Cardiomyopathy, Familial Hypertrophic, 25
    • Cardiomyopathy, Dilated, 1N
  • Cardiomyopathy, Familial Hypertrophic, 3
  • Cardiomyopathy, Familial Hypertrophic, 4
  • Cardiomyopathy, Familial Hypertrophic, 6
  • Cardiomyopathy, Familial Hypertrophic, 7
  • Cardiomyopathy, Familial Hypertrophic, 8
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1
  • Cardiomyopathy, Familial Hypertrophic, 9
  • Cardiomyopathy, Familial Restrictive, 1
  • Cardiomyopathy, Familial Restrictive, 3
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • Emery-Dreifuss Muscular Dystrophy 6, X-Linked, Included
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type)
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • desmin
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmoglein 2
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin light chain 2
    • myosin, light chain 2, regulatory, cardiac, slow
    • myosin, light chain, regulatory ventricular
    • myosin, light polypeptide 2, regulatory, cardiac, slow
    • regulatory light chain of myosin
    • RLC of myosin
  • myosin light chain 3
    • ELC of myosin
    • essential light chain of myosin
    • myosin, light chain 1, slow, b
    • myosin, light chain 1, ventricular
    • myosin, light chain 3, alkali, ventricular, skeletal, slow
    • myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
  • myosin light chain kinase 2
    • myosin light chain kinase 2, skeletal muscle
  • myosin, heavy chain 6
    • myosin, heavy chain 6, cardiac muscle, alpha
    • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • nexilin F-actin binding protein
    • nexilin (F actin binding protein)
  • phospholamban
  • plakophilin 2
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • RNA binding motif protein 20
  • sarcoglycan delta
    • sarcoglycan, delta (35kD dystrophin-associated glycoprotein)
    • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • solute carrier family 25 member 4
    • adenine nucleotide translocator 1
    • ADP/ATP carrier 1
    • ADP/ATP translocator of skeletal muscle
    • solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator) member 4
  • thymopoietin
  • titin
    • cardiomyopathy, dilated 1G (autosomal dominant
    • connectin
  • titin-cap
    • limb girdle muscular dystrophy 2G (autosomal recessive)
    • titin-cap (telethonin)
  • transmembrane protein 43
    • arrhythmogenic right ventricular dysplasia 5
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin C1, slow skeletal and cardiac type
    • "troponin C type 1 (slow)"
    • TNNC, "troponin C type 1 (slow)"
    • troponin C, slow
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
  • vinculin
2014
Cardiomyopathies, Dilated (DCM), 22 Gene Panel
  • Atrial Fibrillation, Familial, 12
  • Atrial Septal Defect 3
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1AA, With Or Without Left Ventricular Noncompaction;
    • Cardiomyopathy, Familial Hypertrophic, 23, With Or Without Ventricular Noncompaction, Included;
  • Cardiomyopathy, Dilated, 1CC
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1DD
  • Cardiomyopathy, Dilated, 1EE
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1I
  • Cardiomyopathy, Dilated, 1J
    • Cardiomyopathy, Dilated, With Sensorineural Hearing Loss, Autosomal Dominant
  • Cardiomyopathy, Dilated, 1L
  • Cardiomyopathy, Dilated, 1M
  • Cardiomyopathy, Dilated, 1O
    • Cardiomyopathy, Dilated, With Ventricular Tachycardia
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1T
  • Cardiomyopathy, Dilated, 1W
  • Cardiomyopathy, Dilated, 1Y
    • Left Ventricular Noncompaction 9
  • Cardiomyopathy, Dilated, 1Z
  • Cardiomyopathy, Dilated, 2A
    • Cardiomyopathy, Congestive, Autosomal Recessive
    • Cardiomyopathy, Dilated, Autosomal Recessive
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 12
  • Cardiomyopathy, Familial Hypertrophic, 13
  • Cardiomyopathy, Familial Hypertrophic, 14
  • Cardiomyopathy, Familial Hypertrophic, 15
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 2
  • Cardiomyopathy, Familial Hypertrophic, 20
  • Cardiomyopathy, Familial Hypertrophic, 25
    • Cardiomyopathy, Dilated, 1N
  • Cardiomyopathy, Familial Hypertrophic, 3
  • Cardiomyopathy, Familial Hypertrophic, 4
  • Cardiomyopathy, Familial Hypertrophic, 7
  • Cardiomyopathy, Familial Hypertrophic, 9
  • Cardiomyopathy, Familial Restrictive, 1
  • Cardiomyopathy, Familial Restrictive, 3
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • desmin
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin, heavy chain 6
    • myosin, heavy chain 6, cardiac muscle, alpha
    • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • nexilin F-actin binding protein
    • nexilin (F actin binding protein)
  • phospholamban
  • RNA binding motif protein 20
  • sarcoglycan delta
    • sarcoglycan, delta (35kD dystrophin-associated glycoprotein)
    • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • thymopoietin
  • titin
    • cardiomyopathy, dilated 1G (autosomal dominant
    • connectin
  • titin-cap
    • limb girdle muscular dystrophy 2G (autosomal recessive)
    • titin-cap (telethonin)
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin C1, slow skeletal and cardiac type
    • "troponin C type 1 (slow)"
    • TNNC, "troponin C type 1 (slow)"
    • troponin C, slow
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
  • vinculin
2015
Cardiomyopathies, Dilated (DCM), 28 Gene Panel
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1AA, With Or Without Left Ventricular Noncompaction;
    • Cardiomyopathy, Familial Hypertrophic, 23, With Or Without Ventricular Noncompaction, Included;
  • Cardiomyopathy, Dilated, 1BB
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1E
    • Cardiomyopathy, Dilated, With Conduction Defect 2
    • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1I
  • Cardiomyopathy, Dilated, 1II
  • Cardiomyopathy, Dilated, 1M
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1Y
    • Left Ventricular Noncompaction 9
  • Cardiomyopathy, Dilated, 2A
    • Cardiomyopathy, Congestive, Autosomal Recessive
    • Cardiomyopathy, Dilated, Autosomal Recessive
  • Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
    • Carvajal Syndrome
    • Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ankyrin repeat domain 1
    • ankyrin repeat domain 1 (cardiac muscle)
    • cardiac ankyrin repeat protein
  • crystallin, alpha B
    • crystallin, alpha-2
    • heat-shock protein beta-5
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • desmin
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmoglein 2
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • four and a half LIM domains 2
    • downregulated in rhabdomyosarcoma lim protein
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin light chain 2
    • myosin, light chain 2, regulatory, cardiac, slow
    • myosin, light chain, regulatory ventricular
    • myosin, light polypeptide 2, regulatory, cardiac, slow
    • regulatory light chain of myosin
    • RLC of myosin
  • myosin light chain 3
    • ELC of myosin
    • essential light chain of myosin
    • myosin, light chain 1, slow, b
    • myosin, light chain 1, ventricular
    • myosin, light chain 3, alkali, ventricular, skeletal, slow
    • myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • phospholamban
  • plakophilin 2
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • sodium voltage-gated channel alpha subunit 5
    • sodium channel, voltage-gated, type v, alpha (long qt syndrome 3)
    • sodium channel, voltage-gated, type V, alpha subunit
  • titin
    • cardiomyopathy, dilated 1G (autosomal dominant
    • connectin
  • transmembrane protein 43
    • arrhythmogenic right ventricular dysplasia 5
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
2013
Cardiomyopathies, Familial Hypertrophic (HCM), 22 Gene Panel
  • Cardiomyopathy, Dilated, 1CC
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1EE
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1M
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1W
  • Cardiomyopathy, Dilated, 1Y
    • Left Ventricular Noncompaction 9
  • Cardiomyopathy, Dilated, 1Z
  • Cardiomyopathy, Dilated, 2A
    • Cardiomyopathy, Congestive, Autosomal Recessive
    • Cardiomyopathy, Dilated, Autosomal Recessive
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cardiomyopathy, Familial Hypertrophic, 10
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 12
  • Cardiomyopathy, Familial Hypertrophic, 13
  • Cardiomyopathy, Familial Hypertrophic, 14
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 2
  • Cardiomyopathy, Familial Hypertrophic, 20
  • Cardiomyopathy, Familial Hypertrophic, 25
    • Cardiomyopathy, Dilated, 1N
  • Cardiomyopathy, Familial Hypertrophic, 3
  • Cardiomyopathy, Familial Hypertrophic, 4
  • Cardiomyopathy, Familial Hypertrophic, 6
  • Cardiomyopathy, Familial Hypertrophic, 7
  • Cardiomyopathy, Familial Hypertrophic, 8
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1
  • Cardiomyopathy, Familial Hypertrophic, 9
  • Cardiomyopathy, Familial Restrictive, 1
  • Cardiomyopathy, Familial Restrictive, 3
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • Emery-Dreifuss Muscular Dystrophy 6, X-Linked, Included
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • Mitochondrial DNA Depletion Syndrome 12 (Cardiomyopathic Type)
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin light chain 2
    • myosin, light chain 2, regulatory, cardiac, slow
    • myosin, light chain, regulatory ventricular
    • myosin, light polypeptide 2, regulatory, cardiac, slow
    • regulatory light chain of myosin
    • RLC of myosin
  • myosin light chain 3
    • ELC of myosin
    • essential light chain of myosin
    • myosin, light chain 1, slow, b
    • myosin, light chain 1, ventricular
    • myosin, light chain 3, alkali, ventricular, skeletal, slow
    • myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
  • myosin light chain kinase 2
    • myosin light chain kinase 2, skeletal muscle
  • myosin, heavy chain 6
    • myosin, heavy chain 6, cardiac muscle, alpha
    • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • nexilin F-actin binding protein
    • nexilin (F actin binding protein)
  • phospholamban
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • solute carrier family 25 member 4
    • adenine nucleotide translocator 1
    • ADP/ATP carrier 1
    • ADP/ATP translocator of skeletal muscle
    • solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator) member 4
  • titin
    • cardiomyopathy, dilated 1G (autosomal dominant
    • connectin
  • titin-cap
    • limb girdle muscular dystrophy 2G (autosomal recessive)
    • titin-cap (telethonin)
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin C1, slow skeletal and cardiac type
    • "troponin C type 1 (slow)"
    • TNNC, "troponin C type 1 (slow)"
    • troponin C, slow
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
  • vinculin
2014
Cardiomyopathies, Familial Hypertrophic, 16 Gene Panel
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cardiomyopathy, Familial Hypertrophic, 10
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 12
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 2
  • Cardiomyopathy, Familial Hypertrophic, 3
  • Cardiomyopathy, Familial Hypertrophic, 4
  • Cardiomyopathy, Familial Hypertrophic, 6
  • Cardiomyopathy, Familial Hypertrophic, 7
  • Cardiomyopathy, Familial Hypertrophic, 8
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ankyrin repeat domain 1
    • ankyrin repeat domain 1 (cardiac muscle)
    • cardiac ankyrin repeat protein
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin light chain 2
    • myosin, light chain 2, regulatory, cardiac, slow
    • myosin, light chain, regulatory ventricular
    • myosin, light polypeptide 2, regulatory, cardiac, slow
    • regulatory light chain of myosin
    • RLC of myosin
  • myosin light chain 3
    • ELC of myosin
    • essential light chain of myosin
    • myosin, light chain 1, slow, b
    • myosin, light chain 1, ventricular
    • myosin, light chain 3, alkali, ventricular, skeletal, slow
    • myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • phospholamban
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
2015
Cardiomyopathies, Paediatric, 72 Gene Panel
  • 3-Methylglutaconic Aciduria, Type V
    • Cardiomyopathy, Dilated, With Ataxia
    • MGA, Type V
  • Acyl-CoA Dehydrogenase, Very Long-Chain, Deficiency Of
    • VLCAD Deficiency
  • Amyloidosis, Hereditary, Transthyretin-Related
    • Amyloid Polyneuropathy, Multiple Forms, Included
    • Amyloidosis I, Included
    • Dysprealbuminemic Euthyroidal Hyperthyroxinemia, Included
    • Familial Amyloid Polyneuropathy
    • Hereditary Amyloidosis, Transthyretin-Related
    • Hyperthyroxinemia, Dysprealbuminemic, Included
    • Hyperthyroxinemia, Dystransthyretinemic, Included
    • Senile Systemic Amyloidosis, Included
    • Transthyretin Amyloidosis
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
    • Arrhythmogenic Right Ventricular Cardiomyopathy 1
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
    • Arrhythmogenic Right Ventricular Cardiomyopathy 10
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
    • Arrhythmogenic Right Ventricular Cardiomyopathy 11
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, And Mild Palmoplantar Keratoderma With Or Without Woolly Hair, Included
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
    • Arrhythmogenic Right Ventricular Cardiomyopathy 12
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
    • Arrhythmogenic Right Ventricular Cardiomyopathy 2
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
    • Arrhythmogenic Right Ventricular Cardiomyopathy 5
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
    • Arrhythmogenic Right Ventricular Cardiomyopathy 8
  • Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
    • Arrhythmogenic Right Ventricular Cardiomyopathy 9
  • Atrial Fibrillation, Familial, 10
  • Atrial Fibrillation, Familial, 12
  • Atrial Septal Defect 2
  • Atrial Septal Defect 5
  • Barth Syndrome
    • 3-@methylglutaconicaciduria, Type II
    • Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
    • Mga, Type II
  • Brugada Syndrome 1
    • Brugada Syndrome
    • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
    • Sudden Unexplained Nocturnal Death Syndrome
  • Cantu Syndrome
    • Hypertrichotic Osteochondrodysplasia
  • Cardiofaciocutaneous Syndrome 1
    • CFC Syndrome
  • Cardiofaciocutaneous Syndrome 2
  • Cardiofaciocutaneous Syndrome 3
  • Cardiofaciocutaneous Syndrome 4
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • Cardiomyopathy, Dilated, 1AA, With Or Without Left Ventricular Noncompaction;
    • Cardiomyopathy, Familial Hypertrophic, 23, With Or Without Ventricular Noncompaction, Included;
  • Cardiomyopathy, Dilated, 1BB
  • Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
    • Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction; CMD1C
    • Cardiomyopathy, Familial Hypertrophic, 24, Included; CMH24, Included
  • Cardiomyopathy, Dilated, 1CC
  • Cardiomyopathy, Dilated, 1D
    • Left Ventricular Noncompaction 6, Included
  • Cardiomyopathy, Dilated, 1DD
  • Cardiomyopathy, Dilated, 1E
    • Cardiomyopathy, Dilated, With Conduction Defect 2
    • Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
  • Cardiomyopathy, Dilated, 1EE
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1HH
  • Cardiomyopathy, Dilated, 1II
  • Cardiomyopathy, Dilated, 1J
    • Cardiomyopathy, Dilated, With Sensorineural Hearing Loss, Autosomal Dominant
  • Cardiomyopathy, Dilated, 1JJ
  • Cardiomyopathy, Dilated, 1KK
    • Cardiomyopathy, Familial Hypertrophic, 22
    • Cardiomyopathy, Familial Restrictive, 4
  • Cardiomyopathy, Dilated, 1L
  • Cardiomyopathy, Dilated, 1M
  • Cardiomyopathy, Dilated, 1O
    • Cardiomyopathy, Dilated, With Ventricular Tachycardia
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1T
  • Cardiomyopathy, Dilated, 1X
    • Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness
  • Cardiomyopathy, Dilated, 1Y
    • Left Ventricular Noncompaction 9
  • Cardiomyopathy, Dilated, 1Z
  • Cardiomyopathy, Dilated, 2A
    • Cardiomyopathy, Congestive, Autosomal Recessive
    • Cardiomyopathy, Dilated, Autosomal Recessive
  • Cardiomyopathy, Dilated, 3B
    • Cardiomyopathy, Dilated, X-Linked
  • Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
    • Cardiogenital Syndrome
    • Cardiomyopathy With Primary Testicular Failure
    • Cardiomyopathy, Congestive, With Hypergonadotropic Hypogonadism
    • Cardiomyopathy, Dilated, With Premature Ovarian Failure
    • Genital Anomaly With Cardiomyopathy
    • Malouf Syndrome
    • Najjar Syndrome
  • Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
    • Carvajal Syndrome
    • Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
  • Cardiomyopathy, Familial Hypertrophic, 1
    • Asymmetric Septal Hypertrophy
    • Cardiomyopathy, hypertrophic, 1, digenic
    • Cardiomyopathy, Sporadic Hypertrophic, 1, Included
    • Hypertrophic Subaortic Stenosis, Idiopathic
    • Ventricular Hypertrophy, Hereditary
  • Cardiomyopathy, Familial Hypertrophic, 10
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2
  • Cardiomyopathy, Familial Hypertrophic, 11
  • Cardiomyopathy, Familial Hypertrophic, 12
  • Cardiomyopathy, Familial Hypertrophic, 13
  • Cardiomyopathy, Familial Hypertrophic, 14
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 2
  • Cardiomyopathy, Familial Hypertrophic, 20
  • Cardiomyopathy, Familial Hypertrophic, 25
    • Cardiomyopathy, Dilated, 1N
  • Cardiomyopathy, Familial Hypertrophic, 3
  • Cardiomyopathy, Familial Hypertrophic, 4
  • Cardiomyopathy, Familial Hypertrophic, 6
  • Cardiomyopathy, Familial Hypertrophic, 7
  • Cardiomyopathy, Familial Hypertrophic, 8
    • Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 1
  • Cardiomyopathy, Familial Hypertrophic, 9
  • Cardiomyopathy, Familial Restrictive, 1
  • Cardiomyopathy, Familial Restrictive, 3
  • Carnitine Deficiency, Systemic Primary
    • Carnitine Deficiency, Primary
    • Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
    • Carnitine Transporter, Plasma-Membrane, Deficiency Of
    • Carnitine Uptake Defect
    • Systemic Carnitine Deficiency
  • Carnitine Palmitoyltransferase II Deficiency, Infantile
    • Carnitine Palmitoyltransferase II Deficiency With Hypoketotic Hypoglycemia
    • Carnitine Palmitoyltransferase II Deficiency, Hepatocardiomuscular
    • CPT II Deficiency, Hepatic
    • CPT2 Deficiency, Infantile
  • Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Antenatal
    • Carnitine Palmitoyltransferase Ii Deficiency, Neonatal
    • CPT II Deficiency, Lethal Neonatal
    • CPT2 Deficiency, Lethal Neonatal
  • Carnitine Palmitoyltransferase II Deficiency, Myopathic, Stress-Induced
    • Carnitine Palmitoyltransferase II Deficiency, Adult-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Late-Onset
    • Carnitine Palmitoyltransferase II Deficiency, Myopathic
    • Cpt II Deficiency, Myopathic
    • Cpt2 Deficiency, Late-Onset
  • Carnitine-Acylcarnitine Translocase Deficiency
    • Cact Deficiency
    • Carnitine-Acylcarnitine Carrier
    • Carnitine-Acylcarnitine Translocase
  • Carpal Tunnel Syndrome
    • Amyotrophy, Thenar, Of Carpal Origin
  • Cataract 16, Multiple Types
  • Charcot-Marie-Tooth Disease, Axonal, Type 2B1
    • Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1
    • Charcot-Marie-Tooth Disease, Neuronal, Type 2B1
    • Charcot-Marie-Tooth Neuropathy, Type 2B1
  • Costello Syndrome
    • Faciocutaneoskeletal Syndrome
    • Fcs Syndrome
  • Danon Disease
    • Antopol Disease
    • Glycogen Storage Disease IIb
    • Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
    • Pseudoglycogenosis II
    • Vacuolar Cardiomyopathy And Myopathy, X-Linked
  • Deafness, Autosomal Dominant 10
  • Emery-Dreifuss Muscular Dystrophy 1, X-Linked
    • Emery-Dreifuss Muscular Dystrophy, X-Linked
    • Humeroperoneal Neuromuscular Disease, Formerly
    • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
    • Scapuloperoneal Syndrome, X-Linked, Formerly
  • Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
    • Emery-Dreifuss Muscular Dystrophy 2
    • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
    • Hauptmann-Thannhauser Muscular Dystrophy
    • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
    • Scapuloilioperoneal Atrophy With Cardiopathy
  • Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
  • Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4
  • Epidermolysis Bullosa, Lethal Acantholytic
    • Lethal Acantholytic Epidermolysis Bullosa
  • Fabry Disease
    • Alpha-Galactosidase A Deficiency
    • Alpha-Galactosidase A, Included
    • Anderson-Fabry Disease
    • Angiokeratoma, Diffuse
    • Ceramide Trihexosidase Deficiency
    • Fabry Disease, Cardiac Variant
    • Galactosidase, Alpha, Included
    • GLA Deficiency
    • Hereditary Dystopic Lipidosis
  • Glycogen Storage Disease IV
    • Amylopectinosis
    • Andersen Disease
    • Brancher Deficiency
    • Cirrhosis, Familial, With Deposition Of Abnormal Glycogen
    • Gbe1 Deficiency
    • Glycogen Branching Enzyme Deficiency
    • Glycogenosis IV
  • Glycogen Storage Disease Of Heart, Lethal Congenital
    • Glycogen Storage Disease Of Heart
    • Phosphorylase Kinase Deficiency Of Heart
  • Heart-Hand Syndrome, Slovenian Type
  • Hereditary Myopathy With Early Respiratory Failure
    • Edstrom Myopathy
    • Myopathy, Proximal, With Early Respiratory Muscle Involvement
  • Hutchinson-Gilford Progeria Syndrome
    • Myopathy, Early-Onset, With Progeroid Features, Included
    • Progeria
  • Hyperthyroxinemia, Dystransthyretinemic
    • Dystransthyretinemic Euthyroidal Hyperthyroxinemia
    • Euthryroidal Hyperthyroxinemia 2
    • Hyperthyroxinemia, Dysprealbuminemic
  • Keratosis Palmoplantaris Striata II
    • Keratoderma, Palmoplantar, Striate Form II
    • Striate Palmoplantar Keratoderma II
  • Left Ventricular Noncompaction 1
    • Left Ventricular Noncompaction 1 With Or Without Congenital Heart Defects
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Leopard Syndrome 3
  • Lipodystrophy, Familial Partial, Type 2
    • Fpl2
    • Lipoatrophic Diabetes
    • Lipodystrophy, Familial Partial, Dunnigan Type
    • Lipodystrophy, Familial, Of Limbs And Lower Trunk
    • Lipodystrophy, Reverse Partial
  • Loeys-Dietz Syndrome 5
    • Rienhoff Syndrome
  • Methylmalonic Aciduria And Homocystinuria, cblC Type
    • Methylmalonic Acidemia And Homocystinuria, cblC Type
    • Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
    • Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-CoA Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
  • Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency
    • Methylmalonic Acidemia Due To Methylmalonyl-CoA Mutase Deficiency MMA Due To MCM Deficiency
    • Methylmalonic Aciduria, mut Type
  • Muscular Dystrophy, Becker Type
    • Becker Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
  • Muscular Dystrophy, Congenital, LMNA-Related
  • Muscular Dystrophy, Duchenne Type
    • Duchenne Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
  • Muscular Dystrophy, Limb-Girdle, Type 1B
    • Limb Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Type 2F
  • Muscular Dystrophy, Limb-Girdle, Type 2G
  • Muscular Dystrophy, Limb-Girdle, Type 2J
  • Muscular Dystrophy, Limb-Girdle, Type 2R
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
    • Fukuyama Congenital Muscular Dystrophy
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related
  • Muscular Dystrophy-Dystroglycanopathy (Congenital Without Mental Retardation), Type B, 4
    • Muscular Dystrophy, Congenital, FKTN-Related
  • Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
    • Muscular Dystrophy, Limb-Girdle, Type 2M
  • Myopathy, Distal, 1
    • Laing Distal Myopathy
    • Myopathy, Distal, Early-Onset, Autosomal Dominant
    • Myopathy, Late Distal Hereditary
  • Myopathy, Myofibrillar, 1
    • Arrhythmogenic Right Ventricular Cardiomyopathy 7
    • Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
    • Cardiomyopathy, Dilated, 1F And Limb-Girdle Muscular Dystrophy Type 1D
    • Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy
    • CMD1F And LGMD1D
    • Desmin-Related Myopathy
    • Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
    • Desminopathy, Primary
    • Inclusion Body Myopathy 1, Autosomal Dominant
    • Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
    • Myopathy, Myofibrillar, Desmin-Related
  • Myopathy, Myofibrillar, 2
    • Alpha-B Crystallinopathy
    • Myopathy, Desmin-Related, Associated With Mutation In The CRYAB Gene
    • Myopathy, Myofibrillar, Alpha-B Crystallin-Related
    • Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy
  • Myopathy, Myofibrillar, 4
  • Myopathy, Myofibrillar, 6
    • Myopathy, Myofibrillar, BAG3-Related
  • Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
    • MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
  • Myopathy, Myosin Storage, Autosomal Dominant
    • Myopathy With Lysis Of Type I Myofibrils
    • Myopathy, Hyaline Body, Autosomal Dominant
    • Myopathy, Myosin Storage
  • Myopathy, X-Linked, With Postural Muscle Atrophy
  • Naxos Disease
    • Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities
    • Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy
    • Mal De Naxos
    • Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair
    • Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities
  • Neutral Lipid Storage Disease With Myopathy
    • Neutral Lipid Storage Disease Without Ichthyosis
  • Noonan Syndrome 1
    • Female Pseudo-Turner Syndrome
    • Male Turner Syndrome
    • Noonan Syndrome
    • Pterygium Colli Syndrome, Included
    • Turner Phenotype With Normal Karyotype
  • Noonan Syndrome 3
  • Noonan Syndrome 7
  • Polyglucosan Body Neuropathy, Adult Form
    • Polyglucosan Body Disease, Adult Form
  • Porphyria, Acute Intermittent
    • Hydroxymethylbilane Synthase, Included
    • Pbgd Deficiency
    • Porphobilinogen Deaminase Deficiency
    • Porphyria, Acute Intermittent, Nonerythroid Variant, Included
    • Porphyria, Swedish Type
    • Ups Deficiency
    • Uroporphyrinogen Synthase Deficiency
  • Progressive Familial Heart Block, Type IA
    • Bundle Branch Block
    • Cardiac Conduction Defect, Progressive
    • Heart Block, Progressive Familial, Type I
    • Hereditary Bundle Branch System Defect
    • Lenegre-Lev Disease
  • Propionic Acidaemia
    • Glycinemia, Ketotic
    • Hyperglycinemia With Ketoacidosis And Leukopenia
    • Ketotic Hyperglycinemia
    • PCC Deficiency
    • Propionyl-CoA Carboxylase Deficiency
  • Reducing Body Myopathy, X-Linked 1a, Severe, Infantile Or Early Childhood Onset
    • Myopathy, Reducing Body, X-Linked, Early-Onset, Severe
  • Reducing Body Myopathy, X-Linked 1b, With Late Childhood Or Adult Onset
    • Myopathy, Reducing Body, X-Linked, Childhood-Onset
  • Restrictive Dermopathy, Lethal
    • Fetal Hypokinesia Sequence Due To Restrictive Dermopathy
    • Hyperkeratosis-Contracture Syndrome
    • Tight Skin Contracture Syndrome, Lethal
  • Salih Myopathy
    • Myopathy, Early-Onset, With Fatal Cardiomyopathy
  • Scapuloperoneal Myopathy, MYH7-Related
    • Scapuloperoneal Muscular Dystrophy
    • Scapuloperoneal Syndrome, Myopathic Type
  • Scapuloperoneal Myopathy, X-Linked Dominant
    • Scapuloperoneal Myopathy, FHL1-Related
  • Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
    • Kaeser Syndrome
    • Scapuloperoneal Syndrome, Neurogenic Type, Of Kaeser
    • Stark-Kaeser Syndrome
  • Schimmelpenning-Feuerstein-Mims Syndrome
    • Epidermal Nevus Syndrome
    • Jadassohn Nevus Phakomatosis
    • Linear Sebaceous Nevus Syndrome
    • Nevus Sebaceus Of Jadassohn
    • Organoid Nevus Phakomatosis
    • Sebaceous Nevus Syndrome, Linear
    • SFM Syndrome
  • Sick Sinus Syndrome 1, Autosomal Recessive
    • Sick Sinus Syndrome, Congenital
    • Sinus Bradycardia Syndrome, Familial
    • Sinus Node Disease, Familial, Autosomal Recessive
    • Sinus Rhythm, Congenital Absence Of
  • Sick Sinus Syndrome 3, Susceptibility To
  • Skin Fragility-Woolly Hair Syndrome
  • Sudden Infant Death Syndrome
  • T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
    • MST1 Deficiency
    • STK4 Deficiency
  • Tibial Muscular Dystrophy, Tardive
    • Tardive Tibial Muscular Dystrophy
    • UDD Myopathy
  • Ventricular Fibrillation, Paroxysmal Familial, 1
    • Ventricular Fibrillation During Myocardial Infarction, Susceptibility To
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
    • Ventricular Tachycardia, Stress-Induced Polymorphic
  • Wolff-Parkinson-White Syndrome
    • WPW Syndrome
  • 1,4-alpha-glucan branching enzyme 1
    • amylo-(1,4 to 1,6) transglucosidase
    • amylo-(1,4 to 1,6) transglycosylase
    • glucan (1,4-alpha-), branching enzyme 1
    • glycogen branching enzyme
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • acyl-CoA dehydrogenase, very long chain
    • acyl-Coenzyme A dehydrogenase, very long chain
  • ankyrin repeat domain 1
    • ankyrin repeat domain 1 (cardiac muscle)
    • cardiac ankyrin repeat protein
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
  • B-Raf proto-oncogene, serine/threonine kinase
    • oncogene BRAF
    • v-raf murine sarcoma viral oncogene homolog B
    • v-raf murine sarcoma viral oncogene homolog B1
  • BCL2-associated athanogene 3
  • cardiotrophin 1
  • carnitine palmitoyltransferase 2
    • carnitine palmitoyltransferase II
  • crystallin, alpha B
    • crystallin, alpha-2
    • heat-shock protein beta-5
  • cysteine and glycine rich protein 3
    • CLP LIM domain protein, muscle
    • cysteine-rich protein 3
    • lim domain protein, cardiac
  • desmin
  • desmocollin 2
    • desmocollin 3, formerly
    • desmosomal glycoprotein II/III
  • desmoglein 2
  • desmoplakin
    • desmoplakin I
    • desmoplakin II
  • DNAJ (Hsp40) homolog, subfamily C, member 19
    • DnaJ heat shock protein family (Hsp40) member C19
  • dystrobrevin, alpha
  • dystrophin
    • apo-dystrophin 1, included
    • dystrophin
    • dystrophin (muscular dystrophy, duchenne and becker types)
  • emerin
    • emerin
    • emery-dreifuss muscular dystrophy
    • sta, included
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • four and a half LIM domains 1
    • KYOT, mouse, homolog of
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • hydroxymethylbilane synthase
    • porphobilinogen deaminase
    • porphyria, acute; chester type
    • uroporphyrinogen i synthase
  • integrin-linked kinase
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • KRAS proto-oncogene, GTPase
    • kirsten murine sarcoma VIrus 2
    • kirsten ras1, included
    • oncogene kras1, included
    • oncogene kras2
    • v-Ki-ras1 pseudogene, included
    • v-Ki-ras2 kirsten rat sarcoma viral oncogene homolog
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • laminin subunit alpha 4
    • laminin, alpha 4
  • LIM domain binding 3
    • cardiomyopathy, dilated 1C (autosomal dominant)
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • methylmalonyl CoA mutase
    • methylmalonyl Coenzyme A mutase
  • mitogen-activated protein kinase kinase 1
    • MAPK/ERK kinase 1
    • protein kinase, mitogen-activated, kinase 1
  • mitogen-activated protein kinase kinase 2
    • MAPK/ERK kinase 2
    • protein kinase, mitogen-activated, kinase 2
  • myopalladin
  • myosin binding protein C, cardiac
    • cardiac myosin-binding protein C
    • myosin-binding protein C, cardiac
  • myosin light chain 2
    • myosin, light chain 2, regulatory, cardiac, slow
    • myosin, light chain, regulatory ventricular
    • myosin, light polypeptide 2, regulatory, cardiac, slow
    • regulatory light chain of myosin
    • RLC of myosin
  • myosin light chain 3
    • ELC of myosin
    • essential light chain of myosin
    • myosin, light chain 1, slow, b
    • myosin, light chain 1, ventricular
    • myosin, light chain 3, alkali, ventricular, skeletal, slow
    • myosin, light polypeptide 3, alkali; ventricular, skeletal, slow
  • myosin, heavy chain 6
    • myosin, heavy chain 6, cardiac muscle, alpha
    • myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
  • myosin, heavy chain 7
    • myopathy, distal 1
    • myosin, cardiac, heavy chain, beta
    • myosin, heavy chain 7, cardiac muscle, beta
    • myosin, heavy polypeptide 7, cardiac muscle, beta
  • nebulette
  • nexilin F-actin binding protein
    • nexilin (F actin binding protein)
  • patatin-like phospholipase domain containing 2
    • ATGL
    • desnutrin
    • FP17548
    • iPLA2zeta
    • TTS-2.2
  • PDZ and LIM domain 3
  • phospholamban
  • plakophilin 2
  • propionyl-CoA carboxylase, alpha subunit
    • pccA complementation group
    • propionyl Coenzyme A carboxylase, alpha polypeptide
  • propionyl-CoA carboxylase, beta subunit
    • propionyl Coenzyme A carboxylase, beta polypeptide
  • protein kinase AMP-activated non-catalytic subunit gamma 2
    • AMP-activated protein kinase, noncatalytic, gamma-2
    • AMPK-gamma-2
    • protein kinase AMP-activated, gamma 2 non-catalytic subunit
  • protein tyrosine phosphatase, non-receptor type 11
    • noonan syndrome 1
    • protein-tyrosine phosphatase 2c
    • protein-tyrosine phosphatase, nonreceptor-type, 11
    • tyrosine phosphatase shp2
  • RNA binding motif protein 20
  • ryanodine receptor 2
    • arrhythmogenic right ventricular dysplasia 2
    • ryanodine receptor 2 (cardiac)
    • ryanodine receptor, cardiac
  • sarcoglycan delta
    • sarcoglycan, delta (35kD dystrophin-associated glycoprotein)
    • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • serine/threonine kinase 4
  • sodium voltage-gated channel alpha subunit 5
    • sodium channel, voltage-gated, type v, alpha (long qt syndrome 3)
    • sodium channel, voltage-gated, type V, alpha subunit
  • solute carrier family 22 member 5
    • solute carrier family 22 (organic cation/carnitine transporter) member 5
  • solute carrier family 25 member 20
    • cact deficiency, included
    • carnitine-acylcarnitine carrier
    • carnitine-acylcarnitine translocase
    • carnitine-acylcarnitine translocase deficiency, included
    • solute carrier family 25 (carnitine/acylcarnitine translocase) member 20
  • tafazzin
    • (cardiomyopathy, dilated 3a (x-linked)
    • barth syndrome
    • endocardial fibroelastosis 2
  • thymopoietin
  • titin
    • cardiomyopathy, dilated 1G (autosomal dominant
    • connectin
  • titin-cap
    • limb girdle muscular dystrophy 2G (autosomal recessive)
    • titin-cap (telethonin)
  • transforming growth factor, beta 3
    • arrhythmogenic right ventricular dysplasia 1
  • transmembrane protein 43
    • arrhythmogenic right ventricular dysplasia 5
  • transthyretin
    • prealbumin, amyloidosis type i
    • prealbumin, thyroxine-binding
    • transthyretin
  • tropomyosin 1
    • cardiomyopathy, hypertrophic 3
    • chromosome 15 open reading frame 13
    • tropomyosin 1 (alpha)
    • tropomyosin, skeletal muscle alpha
  • troponin C1, slow skeletal and cardiac type
    • "troponin C type 1 (slow)"
    • TNNC, "troponin C type 1 (slow)"
    • troponin C, slow
  • troponin I3, cardiac type
    • cardiomyopathy, dilated 2A (autosomal recessive)
    • troponin I type 3
    • troponin I type 3 (cardiac)
    • troponin I type 3 cardiac
    • troponin I, cardiac
  • troponin T2, cardiac type
    • cardiomyopathy, dilated 1D (autosomal dominant)
    • troponin T type 2 (cardiac)
    • troponin t2, cardiac
  • vinculin
2014
Cardiomyopathy, Dilated, 1A
  • Cardiomyopathy, Dilated, 1A
    • Cardiomyopathy, Congestive
    • Cardiomyopathy, Dilated, With Conduction Defect 1
    • Cardiomyopathy, Familial Idiopathic
    • Cardiomyopathy, Idiopathic Dilated
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
2014
Carney Complex, Type 1
  • Carney Complex, Type 1
    • Carney Myxoma-Endocrine Complex
    • Carney Syndrome
    • Lamb Syndrome
    • Myxoma, Spotty Pigmentation, And Endocrine Overactivity
    • Name Syndrome
  • protein kinase cAMP-dependent type I regulatory subunit alpha
    • protein kinase cAMP-dependent, regulatory, type I, alpha
    • protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)
    • tissue-specific extinguisher 1
2010

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