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 IXd
    • Muscle Glycogenosis, X-Linked
    • Muscle Phosphorylase Kinase Deficiency
  • 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
  • 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 12B (Cardiomyopathic Type) Autosomal Recessive
  • 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 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
  • 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
  • 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 36 Gene Panel
  • 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
    • HL Deficiency
    • HMG-CoA Lyase Deficiency
    • HMGCL Deficiency
    • Hydroxymethylglutaric Aciduria
  • 3-Methylglutaconic Aciduria, Type V
    • Cardiomyopathy, Dilated, With Ataxia
    • MGA, Type V
  • Alstrom Syndrome
    • Alss
  • 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, 12
  • Atrial Fibrillation, Familial, 6
    • .
  • Atrial Septal Defect 3
  • Atrial Septal Defect 4
  • Atrial Standstill 2
    • Atrial Dilation and Standstill
    • Cardiomyopathy, Atrial Dilated, With Atrial Standstill
  • 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
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1
    • Cytochrome C Oxidase Deficiency, Fatal Infantile, With Cardioencephalomyopathy
  • 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, 1EE
  • Cardiomyopathy, Dilated, 1FF
  • Cardiomyopathy, Dilated, 1G
  • Cardiomyopathy, Dilated, 1GG
    • .
  • Cardiomyopathy, Dilated, 1HH
  • Cardiomyopathy, Dilated, 1I
  • 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, 1W
  • 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 Woolly Hair And Keratoderma
    • Carvajal Syndrome
    • Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
  • 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, 17
    • .
  • Cardiomyopathy, Familial Hypertrophic, 18
  • Cardiomyopathy, Familial Hypertrophic, 19
  • 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
  • Congenital Disorder Of Glycosylation, Type Im
    • CDG Im
    • DK1 Deficiency
    • Dolichol Kinase Deficiency
  • 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
  • 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
  • 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
  • Friedreich Ataxia 1
    • Fa
    • Frda1
    • Friedreich Ataxia With Retained Reflexes, Included
  • Glycogen Storage Disease II
    • Acid Alpha-Glucosidase Deficiency
    • Acid Maltase Deficiency
    • Alpha-1,4-Glucosidase Deficiency
    • Cardiomegalia Glycogenica Diffusa
    • Gaa Deficiency
    • Glycogenosis, Generalized, Cardiac Form
    • GSD II
    • Pompe Disease
  • Glycogen Storage Disease Of Heart, Lethal Congenital
    • Glycogen Storage Disease Of Heart
    • Phosphorylase Kinase Deficiency Of Heart
  • Hemochromatosis, Type 1
    • Haemochromatosis
    • Haemochromatosis, Heridtary
    • Hemochromatosis Gene, Included
    • Hemochromatosis, Hereditary
    • Hlah
  • Left Ventricular Noncompaction 1
    • Left Ventricular Noncompaction 1 With Or Without Congenital Heart Defects
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • Left Ventricular Noncompaction 7
    • .
  • Left Ventricular Noncompaction 8
    • Cardiomyopathy, Dilated, 1LL, Included
  • Leopard Syndrome 1
    • Lentiginosis, Cardiomyopathic
    • Multiple Lentigines Syndrome
  • Loeys-Dietz Syndrome 5
    • Rienhoff Syndrome
  • Long QT Syndrome 3
    • Long QT Syndrome 2/3, Included
    • Long QT Syndrome 3, Acquired, Susceptibility To, Included
    • Long QT Syndrome 3/6, Included
  • Long QT Syndrome 9
    • Long QT Syndrome 2/9, Digenic, Included; Lqt2/9, Digenic, Included
    • Long QT Syndrome 9, Acquired, Susceptibility To, Included
  • Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
    • LCHAD Deficiency
  • Mitochondrial DNA Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
    • .
  • Mitochondrial DNA Depletion Syndrome 12B (Cardiomyopathic Type) Autosomal Recessive
  • Muscular Dystrophy, Becker Type
    • Becker Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
  • Muscular Dystrophy, Congenital Merosin-Deficient, 1A
    • Muscular Dystrophy, Congenital Merosin-Deficient
    • Muscular Dystrophy, Congenital, Due To Partial LAMA2 Deficiency, Included
  • Muscular Dystrophy, Duchenne Type
    • Duchenne Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
  • Muscular Dystrophy, Limb Girdle, Type 2C
    • Adhalin Deficiency, Secondary
    • Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1
    • Maghrebian Myopathy
    • Muscular Dystrophy, Duchenne-Like
    • Sarcoglycan, Gamma, Deficiency of
    • Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type
  • Muscular Dystrophy, Limb-Girdle, Type 2E
    • .
  • Muscular Dystrophy, Limb-Girdle, Type 2F
  • Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
    • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related
  • 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
  • Nemaline Myopathy 3
  • 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 4
  • Noonan Syndrome 6
  • Noonan Syndrome-Like Disorder With Loose Anagen Hair
    • Tosti Syndrome
  • Sick Sinus Syndrome 3, Susceptibility To
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy
    • Ventricular Tachycardia, Stress-Induced Polymorphic
  • Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
    • Ventricular Tachycardia, Stress-Induced Polymorphic
  • Wolff-Parkinson-White Syndrome
    • WPW Syndrome
  • actin, alpha 1, skeletal muscle
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ALMS1, centrosome and basal body associated protein
    • ALMS1 gene
    • Alstrom syndrome 1
  • 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
  • BCL2-associated athanogene 3
  • calreticulin 3
  • calsequestrin 2
    • calsequestrin 2 (cardiac muscle)
  • caveolae associated protein 4
    • muscle related coiled-coil protein
  • caveolin 3
  • COX15 cytochrome c oxidase assembly homolog
    • CEMCOX2
  • 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
  • dolichol kinase
  • 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
  • frataxin
    • frataxin
    • frda gene
    • x25
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • fukutin related protein
    • fukutin-related protein
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • GATA zinc finger domain containing 1
  • glucosidase, alpha, acid
    • glycogen storage disease type II
    • pompe disease
  • hemochromatosis
    • haemochromatosis
    • haemochromatosis gene, included
    • haemochromatosis, herditary
    • hemochromatosis gene, included
    • hemochromatosis, hereditary
    • HFE gene
  • HRas proto-oncogene, GTPase
    • v-Ha-ras harvey rat sarcoma viral oncogene homolog
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
    • hydroxyacyl-coenzyme a dehydrogenase/3-ketoacyl-coenzyme a thiolase/enoyl-coenzyme a hydratase (trifunctional protein), alpha subunit
    • long-chain hydroxyacyl-coa dehydrogenase
    • mitochondrial trifunctional protein, alpha subunit
    • trifunctional protein, alpha subunit
  • integrin-linked kinase
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • junctophilin 2
    • JP-2
  • 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
  • Kruppel-like factor 10
    • TGFB inducible early growth response
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • laminin subunit alpha 2
    • laminin 2
    • laminin 2, heavy chain
    • laminin m
    • laminin, alpha-2
    • merosin,
  • 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
  • mindbomb E3 ubiquitin protein ligase 1
    • DIP-1
    • KIAA1323
    • MIB
    • mindbomb homolog 1 (Drosophila)
    • ZZANK2
    • ZZZ6
  • 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 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
  • 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
  • myozenin 2
    • C4orf5, "chromosome 4 open reading frame 5" SYNONYMS CS-1
  • natriuretic peptide A
    • ANP
    • natriuretic peptide precursor A
    • PND
  • nexilin F-actin binding protein
    • nexilin (F actin binding protein)
  • NRAS proto-oncogene, GTPase
    • neuroblastoma RAS viral (v-ras) oncogene homolog
    • neuroblastoma RAS viral oncogene homolog
    • oncogene NRAS
  • PDZ and LIM domain 3
  • phospholamban
  • plakophilin 2
  • PR/SET domain 16
    • PR domain 16
    • PR domain containing 16
  • 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 beta
    • sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
  • sarcoglycan delta
    • sarcoglycan, delta (35kD dystrophin-associated glycoprotein)
    • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • sarcoglycan gamma
    • sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
  • SHOC2, leucine-rich repeat scaffold protein
    • RAS-binding protein SUR8, c. elegans, homolog of
    • soc-2 (suppressor of clear, C.elegans) homolog
    • soc-2 suppressor of clear homolog (C. elegans)
  • 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 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
  • SOS Ras/Rac guanine nucleotide exchange factor 1
    • son of sevenless homolog 1 (drosophila)
  • succinate dehydrogenase complex flavoprotein subunit A
    • SDH1, homolog of
    • succinate dehydrogenase 1, s. cerevisiae, homolog of
    • succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
  • T-box 20
    • 0
  • tafazzin
    • (cardiomyopathy, dilated 3a (x-linked)
    • barth syndrome
    • endocardial fibroelastosis 2
  • thioredoxin reductase 2
    • selenoprotein Z
    • thioredoxin reductase beta
  • 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
  • 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 36 Gene Panel
  • 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, 12
  • Atrial Septal Defect 3
  • Cantu Syndrome
    • Hypertrichotic Osteochondrodysplasia
  • 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, 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, 1HH
  • Cardiomyopathy, Dilated, 1I
  • 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, 1W
  • 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, 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, 15
  • 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
  • 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
  • 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
  • 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
  • BCL2-associated athanogene 3
  • calreticulin 3
  • catenin alpha 3
    • catenin (cadherin-associated protein), alpha 3"
  • caveolin 3
  • 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
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • galactosidase, alpha
    • alpha-galactosidase a deficiency
  • GATA zinc finger domain containing 1
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • 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
  • myopalladin
  • 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
  • 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
  • myozenin 2
    • C4orf5, "chromosome 4 open reading frame 5" SYNONYMS CS-1
  • 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
  • Raf-1 proto-oncogene, serine/threonine kinase
    • oncogene mil
    • oncogene raf1
    • transforming replication-defective murine retrovirus 3611-msv
    • v-raf-1 murine leukemia viral oncogene homolog 1
  • 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)
  • 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
  • thymopoietin
  • 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
  • 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 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
  • 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
  • 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, Dilated (DCM), 28 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, 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
  • Atrial Septal Defect 4
  • Brugada Syndrome 1
    • Brugada Syndrome
    • Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
    • Sudden Unexplained Nocturnal Death Syndrome
  • 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, 1HH
  • 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, 1O
    • Cardiomyopathy, Dilated, With Ventricular Tachycardia
  • Cardiomyopathy, Dilated, 1P
  • Cardiomyopathy, Dilated, 1R
  • Cardiomyopathy, Dilated, 1S
    • Left Ventricular Noncompaction 5
  • Cardiomyopathy, Dilated, 1W
  • 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, 2B
  • Cardiomyopathy, Dilated, 3B
    • Cardiomyopathy, Dilated, X-Linked
  • Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
    • Carvajal Syndrome
    • Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair
  • 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, 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
  • 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
  • Left Ventricular Noncompaction 10
    • Cardiomyopathy, Dilated, 1MM
  • Long QT Syndrome 3
    • Long QT Syndrome 2/3, Included
    • Long QT Syndrome 3, Acquired, Susceptibility To, Included
    • Long QT Syndrome 3/6, Included
  • Muscular Dystrophy, Becker Type
    • Becker Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
  • Muscular Dystrophy, Duchenne Type
    • Duchenne Muscular Dystrophy
    • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne 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
  • Sick Sinus Syndrome 3, Susceptibility To
  • actin, alpha, cardiac muscle 1
    • actin, alpha
    • actin, alpha, cardiac muscle
    • smooth muscle actin
  • actinin, alpha 2
  • ankyrin repeat domain 11
    • ankyrin repeat domain-containing protein 11
    • ankyrin repeat-containing cofactor 1
    • nasopharyngeal carcinoma susceptibility protein
  • ATP-binding cassette, sub-family C, member 9
    • ATP-binding cassette, sub-family C (CFTR/MRP), member 9
    • sulfonylurea receptor 2
  • BCL2-associated athanogene 3
  • 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
  • dystrophin
    • apo-dystrophin 1, included
    • dystrophin
    • dystrophin (muscular dystrophy, duchenne and becker types)
  • EYA transcriptional coactivator and phosphatase 4
    • eyes absent (Drosophila) homolog 4
    • eyes absent homolog 4 (Drosophila)
  • fukutin
    • fcmd gene
    • fukuyama type congenital muscular dystrophy (fukutin)
  • GATA zinc finger domain containing 1
  • junction plakoglobin
    • catenin (cadherin-associated protein), gamma 80kDa
    • catenin, gamma
    • desmoplakin III
    • plakoglobin
  • lamin A/C
    • lamin A
    • lamin C
    • prelamin A
  • LIM domain binding 3
    • cardiomyopathy, dilated 1C (autosomal dominant)
  • lysosomal associated membrane protein 2
    • lysosomal membrane glycoprotein, 110-kd
    • lysosome-associated membrane protein b
  • myopalladin
  • 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
  • plakophilin 2
  • PR/SET domain 5
    • PR domain containing 5
  • RNA binding motif protein 20
  • sarcoglycan delta
    • sarcoglycan, delta (35kD dystrophin-associated glycoprotein)
    • sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
  • 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
  • T-box 20
    • 0
  • 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
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 12B (Cardiomyopathic Type) Autosomal Recessive
  • 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 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
  • 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
  • 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 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
  • 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
  • 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

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