|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| AARS2 |
Alanyl-tRNA Synthetase 2, Mitochondrial |
Familial Hypertrophic Cardiomyopathy (HCM) |
| ABCA1 |
ATP-Binding Cassette Subfamily A (ABC1), Member 1 |
Tangier's Disease HDL Deficiency Type 2 Familial Hypercholesterolemia |
| ABCA3 |
ATP-Binding Cassette, Sub-Family A (ABC1), Member 3 |
Pulmonary Surfactant Metabolism Dysfunction 3 ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction |
| ABCC6 |
ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 6 |
Valvar and Vascular Disorders Pseudoxanthoma Elasticum (PXE) Generalized Arterial Calcification of Infancy-2 (GACI2) |
| ABCC9 |
ATP-binding Cassette Subfamily C, Member 9 |
Dilated Cardiomyopathy 1O (CMD1O) Familial Atrial Fibrillation 12 (FAF 12) Hypertrichotic Osteochondrodysplasia (Cantu syndrome) |
| ABCG5 |
ATP-Binding Cassette Subfamily G (WHITE), Member 5 |
Sitosterolemia Atheroschlerosis, association with |
| ABCG8 |
ATP-Binding Cassette Subfamily G (WHITE), Member 8 |
Sitosterolemia |
| ACADVL |
Acyl-CoA Dehydrogenase, Very Long Chain |
ACADVL Deficiency Cardiomyopathy |
| ACTA1 |
Actin, Alpha 1, Skeletal Muscle |
Muscular Dystrophies with Cardiomyopathy. |
| ACTA |
Smooth Muscle |
Familial Thoracic Aortic Aneurysm/Dissection Type 6 (AAT6) |
| ACTC1 |
Cardiac Muscle Alpha Actin |
Left Ventricular Noncompaction (LVNC) Dilated Cardiomyopathy (DCM) Hypertrophic Cardiomyopathy (HCM) |
| ACTN2 |
Alpha Actin 2 |
Familial Hypertrophic Cardiomyopathy (HCM) Dilated Cardiomyopathy 1AA (CMD1AA) |
| ACVR2B |
Activin A Receptor, Type IIB 2 |
Congenital Heart Defects (CHD) Visceral Heterotaxy |
| ACVRL1 (ALK1) |
Activin A Receptor, Type II-Like 1 |
Pulmonary Arterial Hypertension (PAH) |
| ADCK3 |
AarF Domain Containing Kinase 3 |
Congenital Heart Diseases (CHD) Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Spinocerebellar Ataxia 9 |
| ADRB1 |
Adrenoceptor Beta 1 |
Cardiomyopathy Aortic Coarctation. |
| AGL |
Amylo-1,6-Glucosidase |
Glycogen Storage Disease IIIa Glycogen Storage Disease IIIb Cardiomyopathy |
| AKAP9 |
A-Kinase Anchoring |
Long QT Syndrome Type 11 (LQT11) |
| AKT3 |
V-Akt Murine Thymoma Viral Oncogene Homolog 3 |
Arrhythmia Hemimegalencephaly Thymoma |
| ALMS1 |
Alstrom Syndrome Protein 1 |
Cardiomyopathy Alstrom Syndrome |
| ANGPTL3 |
Angiopoietin-Like 3 |
Familial Hypobetalipoproteinemia Type 2 |
| ANGPTL4 |
Angiopoietin-Like 4 |
Polygenic Dyslipidemia, association with |
| ANK2 |
Neuronal Ankyrin 2 |
Long QT Syndrome Type 4 (LQT4) |
| ANKRD1 |
Ankyrin Repeat Domain-Containing Protein 1 |
Dilated Cardiomyopathy Diastolic Heart Failure |
| APOA1 |
Apolipoprotein A-1 |
Familial Hypoalphalipoproteinemia Tangier's Disease Familial Visceral Amyloidosis (Ostertag Type) |
| APOA2 |
Apolipoprotein A-II |
Apolipoprotein A-II Deficiency Hypercholesterolemia |
| APOA5 |
Apolipoprotein A-V |
Hypertriglyceridemia Hyperlipoproteinemia |
| APOB |
Apolipoprotein B |
Type B Autosomal Dominant Hypercholesterolemia Type 1 Familial Hypobetalipoproteinemia |
| APOC2 |
Apolipoprotein C-II |
Apolipoprotein C-II Deficiency Type 1 Hyperlipoproteinemia Type IB |
| APOE |
Apolipoprotein E |
Familial Dysbetalipoproteinemia Type II Hyperlipoproteinemia (HLPIII) |
| ARHGAP31 |
Rho GTPase Activating Protein 31 |
Congenital Heart Diseases (CHD) |
| ARX |
Aristaless Related Homeobox |
Congenital Heart Diseases (CHD) |
| ATP5E |
Mitochondrial ATP Synthase F1 Complex, Epsilon Subunit |
Mitochondrial Complex V Deficiency, Nuclear Type 3 Cardiomyopathy |
| ATP6V0A2 |
ATPase, H+ Transporting, Lysosomal V0 Subunit A2 |
Valvar and Vascular Disorders |
| ATRX |
Alpha Thalassemia/Mental Retardation Syndrome X-Linked |
Congenital Heart Diseases (CHD) |
| BAG3 |
BCL2-Associated Athanogene 3 |
Dilated Cardiomyopathy 1HH Myofibrillar Myopathy Type 6 |
| B3GAT3 |
Beta-1,3-Glucuronyltransferase 3 |
Congenital Heart Diseases (CHD) |
| BCOR |
BCL6 Corepressor |
Congenital Heart Diseases (CHD) Syndromic Microphthalmia 2 (MCOPS2) Oculofaciocardiodental Syndrome (OFCD) |
| BMPR2 |
BMPR2 |
Pulmonary Arterial Hypertension (PAH) |
| BRAF |
V-RAF Murine Sarcoma Viral Oncogene Homolog B1 |
Noonan Syndrome 7 Cardiofaciocutaneous Syndrome Cardiomyopathy |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| CACNA1B |
CACNA1B |
Short QT Syndrome (SQTS) |
| CACNA1C |
CACNA1C |
Long QT Syndrome Type 8 (LQT8) Short QT Syndrome (SQTS) |
| CACNA1D |
Calcium Channel, Voltage-Dependent, L Type, Alpha 1D Subunit |
Arrhythmia |
| CACNA2D1 |
Calcium Channel, Voltage-Dependent, Alpha 2/Delta Subunit 1 |
Short QT Syndrome (SQTS) Brugada Syndrome/J-Wave Syndrome |
| CACNB2 |
CACNB2 |
Brugada Syndrome Type 4 |
| CALM1 |
Calmodulin 1 |
Long QT Syndrome (LQTS) Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT) |
| CALM2 |
Calmodulin 2 |
Long QT Syndrome (LQTS) Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT) |
| CALR3 |
Calreticulin 3 |
Familial Hypertrophic Cardiomyopathy 19 Syncope |
| CASQ2 |
Calsequestrin 2 |
Catecholamine-induced Polymorphic Ventricular Tachycardia (CPVT) |
| CAV1 |
Caveolin 1 |
Pulmonary Arterial Hypertension (PAH) Congenital Generalized Lipodystrophy Type 3 |
| CAV3 |
Caveolin 3 |
Caveolinopathies Long QT Syndrome Type 9 (LQT9) Sudden Infant Death Syndrome (SIDS) |
| CBL |
CAS-BR-M Murine Ecotropic Retroviral Transforming Sequence Homolog |
Noonan Syndrome-like Disorder Cardiomyopathy |
| CBS |
Cystathionine Beta-Synthase |
Marfan-like Syndrome Homocystinuria (pyridoxine-responsive and nonresponsive types) Hyperhomocysteinemic Thrombosis |
| CFC1 |
Cripto, FRL-1, Cryptic Family 1 |
Congenital Heart Disease (CHD) Autosomal Visceral Heterotaxy |
| CHD7 |
Chromodomain Helicase DNA Binding Protein 7 |
Congenital Heart Diseases (CHD) CHARGE Syndrome |
| CHST14 |
Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 |
Valvar and Vascular Disorders Musculocontractural Ehlers-Danlos Syndrome Type 1 |
| COA5 |
Cytochrome C Oxidase Assembly Factor 5 |
Mitochondrial Complex IV Deficiency Leigh Syndrome with Cardiomyopathy |
| COL1A1 |
Collagen, Type I, Alpha 1 |
Valvar and Vascular Disorders Caffey Disease Osteogenesis Imperfecta Ehlers-Danlos Syndromes I and VIIa |
| COL1A2 |
Collagen, Type I, Alpha 2 |
Valvar and Vascular Disorders Ehlers-Danlos Syndrome with a Cardiac Valvar Phenotype Atypical Marfan Syndrome. |
| COL18A1 |
Collagen, Type XVIII, Alpha 1 |
Congenital Heart Diseases (CHD) |
| COL2A1 |
Collagen, Type II, Alpha 1 |
Valvar and Vascular Disorders Congenital Heart Diseases (CHD) |
| COL3A1 |
Collagen, Type III |
Ehlers-Danlos Syndrome Types IV (EDS IV) Aortic and Arterial Aneurysms |
| COL4A1 |
Collagen, Type IV, Alpha 1 |
Valvar and Vascular Disorders Hereditary Angiopathy with Nephropathy Aneurysms and Muscle Cramps |
| COL5A1 |
Collagen, Type V, Alpha 1 |
Valvar and Vascular Disorders Ehlers-Danlos Syndromes (EDS), Types I and II |
| COL5A2 |
Collagen, Type V, Alpha 2 |
Valvar and Vascular Disorders Ehlers-Danlos Syndromes (EDS), Types I and II |
| CREBBP |
CREB Binding Protein |
Congenital Heart Diseases (CHD) Rubinstein-Taybi Syndrome Acute Myeloid Leukemia |
| CRELD1 |
Cysteine-Rich with EGF-Like Domains 1 |
Congenital Heart Diseases (CHD) Heterotaxy |
| CRYAB |
Crystallin, Alpha-B |
Dilated Cardiomyopathy Myofibrillar Myopathy 2 Alpha-B Crystallin-related Fatal Infantile Hypertrophy Myofibrillar Myopathy |
| CSF2RA |
Colony Stimulating Factor 2 Receptor, Alpha, Low-Affinity |
Idiopathic Pulmonary Fibrosis (IPF) Pulmonary Surfactant Metabolism Dysfunction 4 CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction. |
| CSRP3 |
Cysteine- And Glycine-Rich Protein 3 |
Dilated Cardiomyopathy 1M Familial Hypertrophic Cardiomyopathy 12 |
| CTF1 |
Cardiotrophin 1 |
Hypertrophic Cardiomyopathy (HCM) |
| CTNNA3 |
Alpha-3 Catenin |
Familial Arrhythmogenic Right Ventricular Dysplasia 13 (ARVD 13) |
| DES |
Desmin |
Desmin-related Myopathy Dilated Cardiomyopathy Cardiomyopathy Distal Myopathy |
| DHCR24 |
24-Dehydrocholesterol Reductase |
Congenital Heart Diseases (CHD) Desmosterolosis |
| DLL3 |
Delta-Like 3 (Drosophila) |
Congenital Heart Disease (CHD) Spondylocostal Dysostosis Type 1 |
| DMD |
Dystrophin |
Duchenne Muscular Dystrophy Becker Muscular Dystrophy DMD-associated Dilated Cardiomyopathy |
| DMPK |
Dystrophia Myotonica Protein Kinase |
Congenital Myotonic Dystrophy Cardiomyopathy |
| DNAH5 |
Dynein, Axonemal, Heavy Chain 5 |
Congenital Heart Diseases (CHD) Primary Ciliary Dyskinesia 3 with or without Situs Inversus DNAH5-Related Primary Ciliary Dyskinesia. |
| DNAH11 |
Dynein, Axonemal, Heavy Chain 11 |
Congenital Heart Diseases (CHD) Kartagener Syndrome |
| DNAI1 |
Dynein, Axonemal, Intermediate Chain 1 |
Congenital Heart Disease (CHD) Primary Ciliary Dyskinesia (PCD) |
| DNAJC19 |
DNAJ/HSP40 Homolog, Subfamily C, Member 19 |
Dilated Cardiomyopathy with Ataxia |
| DOLK |
Dolichol Kinase |
Congenital Disorder Of Glycosylation Type Im Dilated Cardiomyopathy |
| DPP6 |
Dipeptidyl-Peptidase 6 |
Arrhythmia Cardiomyopathy |
| DSC2 |
Desmocollin 2 |
Familial Arrhythmogenic Right Ventricular Dysplasia Type 11 (ARVD11) |
| DSG2 |
Desmoglein 2 |
Familial Arrhythmogenic Right Ventricular Dysplasia Type 10 (ARVD10) |
| DSP |
Desmoplakin |
Familial Arrhythmogenic Right Ventricular Dysplasia Type 8 (ARVD8) Dilated Cardiomyopathy with Wooly Hair And Keratoderma |
| DTNA |
Alpha Dystrobrevin |
Left Ventricular Noncompaction 1 (LVNC 1), with or without Congenital Heart Defects |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| EFEMP2 |
EGF Containing Fibulin-Like Extracellular Matrix Protein 2 |
Valvar and Vascular Disorders Lethal Arteriopathy Syndrome |
| EIF2AK4 |
Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4 |
Pulmonary Arterial Hypertension (PAH) |
| ELMOD2 |
ELMO/CED-12 Domain Containing 2 |
Familial Idiopathic Pulmonary Fibrosis (IPF) |
| ELN |
Elastin |
Congenital Heart Diseases (CHD) Valvar and Vascular Disorders |
| EMD |
Emerin |
X-linked Emery-Dreifuss Muscular Dystrophy 1 X-linked EMD-Related Emery-Dreifuss Muscular Dystrophy |
| ENG |
Endoglin |
Pulmonary Arterial Hypertension (PAH) Hereditary Hemorrhagic Telangiectasia Syndrome (HHT) |
| EPHX2 |
Cytoplasmic Epoxide Hydrolase 2 |
Fetal Hydantoin Syndrome Familial Hypercholesterolemia |
| ESCO2 |
Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2 |
Congenital Heart Diseases (CHD) Roberts Syndrome |
| EVC |
Ellis Van Creveld Protein |
Congenital Heart Diseases (CHD) Ellis-Van Creveld Syndrome |
| EVC2 |
Ellis Van Creveld Syndrome 2 |
Congenital Heart Diseases (CHD) Ellis-Van Creveld Syndrome |
| EYA1 |
EYA Transcriptional Coactivator And Phosphatase 1 |
Congenital Heart Diseases (CHD) Branchiootic Syndrome 1 Otofaciocervical Syndrome |
| EYA4 |
EYA Transcriptional Coactivator And Phosphatase 4 |
Dilated Cardiomyopathy 1J (CMD1J) Autosomal Dominant Deafness 10 |
| FANCA |
Fanconi Anemia, Complementation Group A |
Congenital Heart Diseases (CHD) Fanconi Anemia (FA) |
| FANCC |
Fanconi Anemia, Complementation Group C |
Congenital Heart Diseases (CHD) Fanconi Anemia (FA) |
| FANCD2 |
Fanconi Anemia, Complementation Group D2 |
Congenital Heart Diseases (CHD) Fanconi Anemia (FA) |
| FANCE |
Fanconi Anemia, Complementation Group E |
Congenital Heart Diseases (CHD) Fanconi Anemia (FA) |
| FASTKD2 |
FAST Kinase Domains 2 |
Congenital Heart Diseases (CHD) Mitochondrial Complex IV Deficiency |
| FBLN5 |
Fibulin 5 |
Valar and Vascular Disorders Autosomal Dominant Cutis Laxa Autosomal Recessive Cutis Laxa Type I (CL type I)
Age-Related Macular Degeneration Type 3 (ARMD3) |
| FBN1 |
Fibrillin-1 |
Marfan Syndrome (MFS) Neonatal Marfan Syndrome Isolated Skeletal Features of Marfan Syndrome Autosomal Dominant Ectopia Lentis Aortic Aneurysm |
| FBN2 |
Fibrillin-2 |
Congenital Contractural Arachnodactyly |
| FGD1 |
FYVE, RhoGEF And PH Domain Containing 1 |
Congenital Heart Diseases (CHD) Aarskog-Scott syndrome. |
| FGFR2 |
Fibroblast Growth Factor Receptor 2 |
Congenital Heart Diseases (CHD) |
| FHL1 |
Four-And-A-Half LIM Domains 1 |
X-linked Emery-Dreifuss Muscular Dystrophy 6 X-linked Myopathy Cardiomyopathy |
| FHL2 |
Four-And-A-Half LIM Domains 2 |
Rhabdomyosarcoma Cardiomyopathy |
| FKTN |
Fukutin |
Dilated Cardiomyopathy 1X Congenital Muscular Dystrophy-Dystroglycanopathy, |
| FLNA |
Filamin A, Alpha |
X-linked Cardiac Valvular Dysplasia Congenital Heart Diseases (CHD) |
| FLNB |
Filamin B, Beta |
Congenital Heart Diseases (CHD) |
| FOXC2 |
Forkhead Box C2 |
Congenital Heart Diseases (CHD) |
| FOXH1 |
Forkhead Box H1 |
Congenital Heart Diseases (CHD) Heterotaxy |
| FOXRED1 |
FAD-Dependent Oxidoreductase Domain-Containing Protein 1 |
Leigh Syndrome Due To Mitochondrial Complex I Deficiency Mitochondrial Complex I deficiency Cardiomyopathy |
| FXN |
Frataxin |
Friedreich Ataxia Hypertrophic Cardiomyopathy |
| GAA |
Acid Alpha-Glucosidase |
Pompe Disease Hypertrophic Cardiomyopathy |
| GATA4 |
GATA4 |
Atrial Septal Defect Type 2 (ASD2) Atrioventricular Septal Defect Type 4 Ventricular Septal Defect Type 1 |
| GATA6 |
GATA Binding Protein 6 |
Congenital Heart Diseases (CHD) |
| GATAD1 |
GATA Zinc Finger Domain-Containing Protein 1 |
Dilated Cardiomyopathy 2B |
| GBA |
Beta-Glucocerebrosidase |
Gaucher Disease, Cardiovascular Calcifications and Valvular Calcification (Mitral Valve Calcification) |
| GDF1 |
Growth Differentiation Factor 1 |
Congenital Heart Diseases (CHD) Heterotaxy |
| GDF2 |
Growth Differentiation Factor 2 |
Pulmonary Arterial Hypertension (PAH) Hereditary Hemorrhagic Telangiectasia Syndrome (HHT) |
| GJA1 |
Gap Junction Protein, Alpha 1 |
Oculodentodigital Dysplasia Congenital Heart Diseases (CHD) includes Atrioventricular Septal Defect 3 and Hypoplastic Left Heart Syndrome 1 |
| GJA5 |
Gap Junction Protein, Alpha 5 |
Congenital Heart Diseases (CHD) Familial Atrial Fibrillation (FAF) |
| GLA |
Alpha-Galactosidase A |
Fabry Disease Hypertrophic Cardiomyopathy Left Ventricular Hypertrophy (LVH) |
| GLB1 |
Beta Galactosidase-1 |
GM1-Gangliosidosis Cardiomyopathy |
| GLI3 |
GLI Family Zinc Finger 3 |
Congenital Heart Diseases (CHD) |
| GNAI2 |
Guanine Nucleotide Binding Protein (G Protein), Alpha Inhibiting Activity Polypeptide 2 |
CPVT Idiopathic Ventricular Tachycardia |
| GPC3 |
Glypican 3 |
Congenital Heart Diseases (CHD) |
| GPD1L |
GPD1L |
Brugada Syndrome Type 2 Sudden Infant Death Syndrome (SIDS) |
| GPIHBP1 |
Glycosylphosphatidylinositol Anchored High Density Lipoprotein Binding Protein 1 |
Familial Lipoprotein Lipase Deficiency Hyperlipoproteinemia Type IB |
| GSN |
Gelsolin |
Familial Atrial Fibrillation (FAF) Cardiomyopathy |
| GUSB |
Beta-Glucuronidase |
Mucopolysaccharidosis Type VII (MPS VII) Cardiomyopathy |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| HADH |
Hydroxyacyl-CoA Dehydrogenase |
3-Hydroxyacyl-CoA Dehydrogenase Deficiency Dyslipidemia Familial Hyperinsulinemic Hypoglycemia 4 |
| HCN4 |
Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 4 |
Brugada Syndrome Type 8 |
| HFE |
HFE |
Hereditary Hemochromatosis (HH) Cardiomyopathy |
| HOXA1 |
Homeobox A1 |
Congenital Heart Diseases (CHD) |
| HRAS |
Harvey Rat Sarcoma Viral Oncogene Homolog |
Costello Syndrome Atrial Tachycardia Hypertrophic Cardiomyopathy (HCM) |
| IGBP1 |
Immunoglobulin (CD79A) Binding Protein 1 |
Congenital Heart Diseases (CHD) |
| ILK |
Integrin-Linked Kinase |
Dilated Cardiomyopathy (DCM) |
| JAG1 |
Jagged 1 |
Congenital Heart Diseases (CHD) |
| JPH2 |
Junctophilin 2 |
Congenital Heart Diseases (CHD) Dilated Cardiomyopathy (DCM) |
| JUP |
Junction Plakoglobin |
Arrhythmogenic Right Ventricular Dysplasia 12 (ARVD12) Naxos Disease |
| KCNA5 |
Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 5 |
Pulmonary Arterial Hypertension (PAH) Familial Atrial Fibrillation Type 7 KCNA5-Related Familial Atrial Fibrillation |
| KCND3 |
Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 3 |
Brugada Syndrome (BrS) |
| KCNE1 |
Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 1 |
Long QT Syndrome Type 5 (LQTS5) Jervell and Lange-Nielsen Syndrome Type 2 |
| KCNE1L |
Potassium Voltage-Gated Channel Subfamily E Member 1-Like Protein (=KCNE5) |
Brugada Syndrome (BrS) Cardiac And Neurologic Abnormalities Found in AMME Contiguous Gene Syndrome Familial Atrial Fibrillation (FAF) |
| KCNE2 |
Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 2 |
Long QT Syndrome Type 6 (LQTS6) Romano-Ward Syndrome Familial Atrial Fibrillation (FAF) Type 4 |
| KCNE3 |
Potassium Channel, Voltage Gated Subfamily E Regulatory Beta Subunit 3 |
Brugada Syndrome (BrS) Type 6 |
| KCNH2 |
Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 2 |
Long QT Syndrome Type 2 (LQTS2) Short QT Syndrome (SQTS) Sudden Cardiac/Infant Death Syndrome (SCIDS) |
| KCNJ2 |
Potassium Channel, Inwardly Rectifying Subfamily J, Member 2 |
Long QT Syndrome Type 7 (LQTS7) Andersen-Tawil Syndrome |
| KCNJ5 |
Potassium Channel, Inwardly Rectifying Subfamily J, Member 5 |
Long QT Syndrome Type 13 (LQTS13) |
| KCNJ8 |
Potassium Channel, Inwardly Rectifying Subfamily J, Member 8 |
Sudden Cardiac/ Infant Death Syndrome (SCIDS) J-Wave Syndrome |
| KCNK3 |
Potassium Channel, Two Pore Domain Subfamily K, Member 3 |
Pulmonary Arterial Hypertension (PAH) |
| KCNQ1 |
Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 1 |
Long QT Syndrome Type 1 (LQTS1) Familial Atrial Fibrillation (FAF) Type 3 Sudden Cardiac/ Infant Death Syndrome (SCIDS) Short QT Syndrome (SQTS) |
| KRAS |
Kirsten Rat Sarcoma Viral Oncogene Homolog |
Noonan Syndrome Cardiofaciocutaneous Syndrome (CFC) Cardiomyopathy |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| LAMA4 |
Laminin, Alpha-4 |
Dilated Cardiomyopathy 1JJ Hypertrophic Cardiomyopathy (HCM) |
| LAMP2 |
LAMP-2 |
Danon Disease Hypertrophic or Dilated Cardiomyopathy with Skeletal Myopathy and/or Wolff-Parkinson-White Syndrome |
| LBR |
Lamin B Receptor |
Congenital Heart Diseases (CHD) |
| LCAT |
Lecithin-Cholesterol Acyltransferase (LCAT) |
Norum Disease (LCAT Deficiency) Fish-Eye Disease |
| LDB3 (ZASP) |
LIM Domain Binding 3 |
Dilated Cardiomyopathy (DCM) Left Ventricular Noncompaction (LVNC) Myofibrillar Myopathy |
| LDLR |
Low Density Lipoprotein Receptor |
Familial Hypercholesterolemia |
| LDLRAP1 |
Low Density Lipoprotein Receptor Adaptor Protein 1 |
Familial Hypercholesterolemia |
| LEFTY2 |
Left-Right Determination Factor 2 |
Congenital Heart Diseases (CHD) Heterotaxy |
| LIPC |
Hepatic Lipase |
Hepatic Lipase Deficiency |
| LIPI |
Lipase, Member I |
Familial Hypertriglyceridemia (FHTR) |
| LMF1 |
Lipase Maturation Factor 1 |
Combined Lipase Deficiency (CLD) LPL HTGL |
| LMNA |
Lamin A/C |
Emery-Dreifuss Muscular Dystrophy Dilated Cardiomyopathy Cardiomyopathy with Conduction Defects Partial Lipodystrophy Charcot-Marie-Tooth Mandibuloacral Dysplasia Hutchinson-Gilford Progeria Syndrome |
| LPIN1 |
Lipin 1 |
Autosomal Recessive Acute Recurrent Myoglobinuria (ARARM) Metabolic Syndrome, association with Type 2 Diabetes |
| LPL |
Lipoprotein Lipase |
Familial Combined Hyperlipidemia (FCHL) |
| LRP5 |
Low Density Lipoprotein Receptor-Related Protein 5 |
Congenital Heart Diseases (CHD) |
| LTBP4 |
Latent Transforming Growth Factor Beta Binding Protein 4 |
Valvar And Vascular Disorders Autosomal Recessive Cutis Laxa Type IC Cutis Laxa with Severe Pulmonary, Gastrointestinal and Urinary Anomalies |
| MAP2K1 |
Mitogen-Activated Protein Kinase Kinase 1 |
Cardiofaciocutaneous Syndrome 3 (CFC 3) Noonan Syndrome-Like Disorders Cardiomyopathy |
| MAP2K2 |
Mitogen-Activated Protein Kinase Kinase 2 |
Cardiofaciocutaneous Syndrome 4 (CFC 4) Noonan Syndrome-Like Disorders Cardiomyopathy |
| MAT2A |
Methionine Adenosyltransferase II, Alpha |
Thoracic Aortic Aneurysm |
| MFAP5 |
Microfibrillar Associated Protein 5 |
Familial Thoracic Aortic Aneurysm Type 9 |
| MIB1 |
Homolog Of Drosophila Mindbomb 1 |
Left Ventricular Noncompaction 7 (LVNC7) |
| MID1 |
Midline 1 |
Congenital Heart Defects (CHD) Opitz Syndrome |
| MKKS |
McKusick-Kaufman Syndrome |
Congenital Heart Diseases (CHD) |
| MKS1 |
Meckel Syndrome, Type 1 |
Congenital Heart Diseases (CHD) |
| MRPL3 |
Mitochondrial Ribosomal Protein L3 |
Combined Oxidative Phosphorylation Deficiency 9 (COXPD9) |
| MTTP |
Microsomal Triglyceride Transfer Protein (MTTP) |
Metabolic Syndrome, association with |
| MUC5B |
Mucin 5, Subtype B |
Idiopathic Pulmonary Fibrosis (IPF) Diffuse Panbronchiolitis |
| MYBPC3 |
Cardiac Myosin-Binding Protein C |
Dilated Cardiomyopathy 1MM Familial Hypertrophic Cardiomyopathy 4 Left Ventricular Noncompaction 10 (LVNC 10) |
| MYCN |
V-Myc Avian Myelocytomatosis Viral Oncogene Neuroblastoma Derived Homolog |
Feingold Syndrome Congenital Heart Defects (CHD) |
| MYF6 |
Myogenic Factor 6 (Herculin) |
Cardiomyopathy |
| MYH11 |
Myosin, Heavy Chain 11, Smooth Muscle |
Familial Thoracic Aortic Aneurysm/Dissection Type 4 (AAT4) |
| MYH6 |
Myosin, Heavy Chain 6, Cardiac Muscle, Alpha |
Atrial Septal Defect 3 Dilated Cardiomyopathy 1EE Familial Hypertrophic Cardiomyopathy 14 Sick Sinus Syndrome 3 |
| MYH7 |
Myosin, Heavy Chain 7, Cardiac Muscle, Beta |
Dilated Cardiomyopathy 1S Familial Hypertrophic Cardiomyopathy 1 Laing Distal Myopathy Left Ventricular Noncompaction 5 Myopathy, Myosin Storage Scapuloperoneal Syndrome, Myopathic Type |
| MYL2 |
Myosin Light Chain 2, Regulatory, Cardiac, Slow |
Familial Hypertrophic Cardiomyopathy 10 MYL2-Related Familial Hypertrophic Cardiomyopathy |
| MYL3 |
Myosin Light Chain 3, Alkali, Ventricular, Skeletal, Slow |
Familial Hypertrophic Cardiomyopathy 8 MYL3-Related Familial Hypertrophic Cardiomyopathy |
| MYLK |
Myosin Light Chain Kinase |
Familial Aortic Dissection |
| MYLK2 |
Myosin Light Chain Kinase 2 |
Digenic Midventricular Hypertrophic Cardiomyopathy Caveolinopathies |
| MYO6 |
Myosin VI |
Hypertrophic Cardiomyopathy (HCM) |
| MYOM1 |
Myomesin 1 |
Hypertrophic Cardiomyopathy (HCM) |
| MYOT |
Myotilin |
Congenital Heart Diseases (CHD) |
| MYOZ2 |
Myozenin 2 |
Familial Hypertrophic Cardiomyopathy Type 16 MYOZ2-Related Familial Hypertrophic Cardiomyopathy |
| MYPN |
Myopalladin |
Dilated Cardiomyopathy 1KK Familial Restrictive Cardiomyopathy Type 4 |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| NEBL |
Nebulette |
Dilated Cardiomyopathy Tricuspid Valve Insufficiency Ebstein Anomaly |
| NEXN |
Nexilin |
Dilated Cardiomyopathy 1CC (CMD1CC) Familial Hypertrophic Cardiomyopathy Type 20 |
| NF1 |
Neurofibromin 1 |
Congenital Heart Diseases (CHD) |
| NIPBL |
Nipped-B Homolog (Drosophila) |
Cornelia De Lange Syndrome NIPBL-Related CHD |
| NKX2.5 |
Homeobox |
Isolated Nonsyndromic Congenital Heart Disease/Defects |
| NKX2.6 |
NK2 Homeobox 6 |
Congenital Heart Diseases (CHD) |
| NODAL |
Nodal Growth Differentiation Factor |
Congenital Heart Diseases (CHD) Visceral Heterotaxy 5 Situs Inversus |
| NOTCH1 |
Homolog of Drosophila NOTCH 1 |
Bicuspid Aortic Valve (BAV) Hypoplastic Left Heart Syndrome Ventricular Septal Defects (VSD) Tetralogy of Fallot (TOF) |
| NOTCH2 |
NOTCH2 |
Congenital Heart Diseases (CHD) Alagille Syndrome 2 Hajdu-Cheney Syndrome |
| NOTCH3 |
Homolog of Drosophila NOTCH 3 |
Pulmonary Arterial Hypertension (PAH) Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 (CADASIL) |
| NPC1 |
Niemann-Pick Disease, Type C1 |
Niemann-Pick Disease Type C1 Niemann-Pick Disease Type D |
| NPHP3 |
Nephronophthisis 3 (Adolescent) |
Congenital Heart Diseases (CHD) Nephronophthisis 3 and Renal-Hepatic-Pancreatic Dysplasia 1 |
| NPPA |
Natriuretic Peptide A |
Acute Myocardial Infarction, Mitral Valve Disease Familial Atrial Fibrillation Type 6 Atrial Standstill 2 |
| NRAS |
Neuroblastoma RAS Viral Oncogene Homolog |
Cardiomyopathy Noonan Syndrome 6 |
| NSDHL |
NAD(P) Dependent Steroid Dehydrogenase-Like |
Congenital Heart Diseases (CHD) CHILD Syndrome CK Syndrome |
| NUBPL |
Nucleotide Binding Protein-Like |
Congenital Heart Diseases (CHD) Mitochondrial Complex I Deficiency |
| PCSK9 |
Proprotein Convertase Subtilisin/Kexin Type 9 |
Familial Hypercholesterolemia 3 |
| PDLIM3 |
PDZ And LIM Domain 3 |
Hypertrophic Cardiomyopathy (HCM) Dilated Cardiomyopathy (DCM) Myotonic Dystrophy Myopathy Dementia |
| PEX7 |
Peroxisomal Biogenesis Factor 7 |
Congenital Heart Diseases (CHD) Rhizomelic Chondrodysplasia Punctata Type 1 Peroxisome Biogenesis Disorder Refsum Disease. |
| PKP2 |
Plakophilin 2 |
Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 9 (ARVD/C9) |
| PKP4 |
Plakophilin 4 |
Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) |
| PLN |
Phospholamban |
Familial Hypertrophic Cardiomyopathy 18 Dilated Cardiomyopathy 1P |
| PLOD1 |
Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase 1 |
Arrhythmia Ehlers-Danlos Syndromes VI |
| PNPLA3 |
Patatin-Like Phospholipase Domain Containing 3 |
Fatty Liver Disease, association with Nonalcoholic Fatty Liver Disease, association with |
| PPARA |
Peroxisome Proliferator-Activated Receptor Alpha |
Diabetes Mellitus, association with Atherosclerosis, association with Fatty Liver Disease, association with Hyperglycemia, association with Hypertension, association with Heart Disease, association with Hyperapobetalipoproteinemia, association with |
| PPARG |
Peroxisome Proliferator-Activated Receptor Gamma |
Familial Partial Lipodystrophy Type 3 Severe Obesity, association with Diabetes, association with Severe Digenic Insulin Resistance, association with Carotid Intimal Medial Thickness 1, association with Atherosclerosis, association with |
| PPP1R17 |
Protein Phosphatase 1, Regulatory Subunit 17 |
Hypercholesterolemia, association with |
| PRDM16 |
PR-Domain Containing Protein 16 |
Left Ventricular Noncompaction 8 (LVNC8) Dilated Cardiomyopathy (CMD1LL) |
| PRKAB2 |
Protein Kinase, AMP-Activated, Beta 2 Non-Catalytic Subunit |
Congenital Heart Diseases (CHD) Familial Hypertrophic Cardiomyopathy Wolff-Parkinson-White Syndrome. |
| PRKAR1A |
Protein Kinase, CAMP-Dependent, Regulatory, Type I, Alpha |
Arrhythmia Carney complex (CNC) Type 1 Familial Atrial Myxoma |
| PRKAG2 |
AMP-Activated Protein Kinase, Noncatalytic, Gamma-2 |
Familial Hypertrophic Cardiomyopathy 6 |
| PRKG1 |
cGMP-Dependent Protein Kinase Type I |
Aortic Aneurysm and Dissection |
| PSEN1 |
Presenilin 1 |
PSEN1-Related Dilated Cardiomyopathy Frontotemporal Dementia |
| PSEN2 |
Presenilin 2 |
PSEN2-Related Dilated Cardiomyopathy Alzheimer's Disease Type 1 |
| PTPN11 |
Non-Receptor Type 11 Protein Tyrosine Phosphatase |
Cardiomyopathy Noonan Syndrome Leopard Syndrome |
| PTRF |
Polymerase I And Transcript Release Factor |
Congenital Generalized Lipodystrophy Type 4 Congenital Generalized Lipodystrophy |
| RAF1 |
V-RAF-1 Murine Leukemia Viral Oncogene Homolog 1 |
Dilated Cardiomyopathy 1NN Noonan Syndrome 5 Leopard Syndrome 2 |
| RAI1 |
Retinoic Acid Induced 1 |
Congenital Heart Diseases (CHD) Potocki-Lupski Syndrome Smith-Magenis Syndrome |
| RBM10 |
RNA Binding Motif Protein 10 |
TARP Syndrome Congenital Heart Defects (CHD) such as ASD |
| RBM20 |
RNA-Binding Motif Protein 20 |
Dilated Cardiomyopathy 1DD |
| RET |
Ret Proto-Oncogene |
Congenital Heart Diseases (CHD) Hirschsprung Disease 1 Multiple Endocrine Neoplasia IIA |
| RPL4 |
Ribosomal Protein L4 |
Congenital Heart Diseases (CHD) |
| RPSA |
Ribosomal Protein SA |
Arrhythmogenic Right Ventricular Dysplasia (ARVD) Congenital Heart Diseases (CHD) |
| RYR1 |
Ryanodine Receptor 1 (Skeletal) |
Muscular Dystrophies with Cardiomyopathy |
| RYR2 |
Cardiac Ryanodine Receptor 2 |
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Catecholaminergic Idiopathic Ventricular Fibrillation (CIVF) Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia(ARVD/C) Hypertrophic Cardiomyopathy(HCM) |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| SALL1 |
Spalt-Like Transcription Factor 1 |
Congenital Heart Diseases (CHD) Hemifacial Microsomia Townes-Brocks Syndrome |
| SALL4 |
Spalt-Like Transcription Factor 4 |
Congenital Heart Diseases (CHD) Duane-Radial Ray Syndrome Ivic Syndrome |
| SCN1B |
Sodium Channel, Voltage-Gated, Type I, Beta Subunit |
Brugada Syndrome Type 5 Cardiac Conduction Defect |
| SCN2B |
Sodium Channel, Voltage-Gated, Type II, Beta Subunit |
Brugada Syndrome Atrial Fibrillation (AF) |
| SCN3B |
Sodium Channel, Voltage-Gated, Type III, Beta Subunit |
Brugada Syndrome Type 7 |
| SCN4B |
Sodium Channel, Voltage-Gated, Type IV, Beta Subunit |
Long QT Syndrome Type 10 (LQT10) Sudden Infant Death Syndrome (SIDS) |
| SCN5A |
Sodium Channel, Voltage-Gated, Type V, Alpha Subunit |
Brugada Syndrome Long QT Syndrome Type 3 (LQT3) Idiopathic Ventricular Fibrillation |
| SCO2 |
SCO2 Cytochrome C Oxidase Assembly Protein |
Hypertrophic Cardiomyopathy Encephalopathy COX Deficiency |
| SDHA |
Succinate Dehydrogenase Subunit A, Flavoprotein Subunit |
Dilated Cardiomyopathy 1GG Leigh Syndrome Mitochondrial Respiratory Chain Complex II Deficiency Paragangliomas 5 |
| SEMA5A |
Semaphorin 5A |
Congenital Heart Diseases (CHD) Cri-Du-Chat Syndrome |
| SFTPA1 |
Surfactant Protein A1 |
Idiopathic Pulmonary Fibrosis (IPF) Newborn Respiratory Distress Syndrome |
| SFTPA2 |
Pulmonary-Associated Surfactant Protein A2 |
Idiopathic Pulmonary Fibrosis (IPF) |
| SFTPB |
Surfactant Protein B |
Idiopathic Pulmonary Fibrosis (IPF) Pulmonary Surfactant Metabolism Dysfunction Type 1 |
| SFTPC |
Pulmonary-Associated Surfactant Protein C |
Idiopathic Pulmonary Fibrosis (IPF) |
| SFTPD |
Surfactant Protein D |
Idiopathic Pulmonary Alveolar Proteinosis Wilson-Mikity Syndrome Aspergillosis |
| SGCD |
Delta-Sarcoglycan |
Dilated Cardiomyopathy (DCM) |
| SGCG |
Sarcoglycan, Gamma |
Atrial Arrhythmias
Ventricular Arrhythmias |
| SHOC2 |
Homolog of C. elegans Suppressor Of CLEAR |
Hypertrophic Cardiomyopathy (HCM) Noonan Syndrome |
| SKI |
SKI Proto-Oncogene |
Congenital Heart Diseases (CHD) MFAs and Related Disorders Shprintzen-Goldberg Syndrome Goldberg-Shprintzen Megacolon Syndrome |
| SLC25A3 |
Solute Carrier Family 25 (Mitochondrial Carrier; Phosphate Carrier), Member 3 |
Hypertrophic Cardiomyopathy (HCM) Mitochondrial Phosphate Carrier Deficiency |
| SLC2A10 |
Solute Carrier Family 2, |
Arterial Tortuosity Syndrome (ATS) |
| SMAD3 |
SMAD3 |
Type 1 Loeys-Dietz Syndrome Idiopathic Pulmonary Fibrosis Aneurysms-Osteoarthritis Syndrome (AOS) |
| SMAD4 |
SMAD4 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
| SMAD8 |
SMAD8 |
Pulmonary Arterial Hypertension (PAH) |
| SNTA1 |
Syntrophin, Alpha 1 |
Long-QT Syndrome type 12 (LQT12) |
| SNX3 |
Sorting Nexin 3 |
Disorders Related to Congenital Heart Diseases (CHD) |
| SOS1 |
Son of Sevenless, Drosophila, Homolog 1 |
Hypertrophic Cardiomyopathy (HCM) Gingival Fibromatosis Noonan Syndrome 4 |
| SOX2 |
SRY (Sex Determining Region Y)-Box 2 |
Congenital Heart Diseases (CHD) Anophthalmia Syndrome Syndromic Microphthalmia 3 Sox2-Related Eye Disorders |
| SOX7 |
SRY (Sex Determining Region Y)-Box 7 |
Congenital Heart Defects (CHD) |
| SPEG |
SPEG Complex Locus |
Congenital Heart Diseases (CHD) Dilated Cardiomyopathy (DCM) |
| SPRED1 |
Sprouty-Related EVH1 Domain-Containing Protein 1 |
Hypertrophic Cardiomyopathy (HCM) Legius Syndrome |
| SURF1 |
Surfeit Locus |
Leigh Syndrome |
| SYNE1 |
Spectrin Repeat-Containing Nuclear Envelope Protein 1 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4 (EDMD4) Cardiomyopathy Autosomal Recessive Spinocerebellar Ataxia 8 |
| SYNE2 |
Spectrin Repeat-Containing Nuclear Envelope Protein 2 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5 (EDMD5) Cardiomyopathy |
|
Gene |
Protein |
Associated Disease(s) |
|---|---|---|
| TAZ (G4.5) |
Tafazzin |
Barth Syndrome Dilated Cardiomyopathy Left Ventricular Noncompaction Endocardial Fibroelastosis |
| TBX1 |
T-Box 1 |
Congenital Heart Defects (CHD) Arrhythmia Velocardiofacial Syndrome 22q11.2 Duplication |
| TBX20 |
T-Box 20 |
ASD, VSD, Patent Foramen Ovale and Cardiac Valve Defects |
| TBX3 |
T-Box 3 |
Congenital Heart Diseases (CHD) Ulnar-Mammary Syndrome |
| TBX5 |
T-Box 5 |
Holt-Oram Syndrome |
| TCAP |
Titin-Cap |
Dilated Cardiomyopathy 1N Limb-Girdle Muscular Dystrophy Type 2G |
| TCTN3 |
Tectonic Family Member 3 |
Arrhythmia Orofaciodigital Syndrome IV Joubert Syndrome 18 |
| TERC |
Telomerase RNA Component |
Idiopathic Pulmonary Fibrosis (IPF) Familial Pulmonary Fibrosis (FPF) |
| TERT |
Telomerase Reverse Transcriptase |
Idiopathic Pulmonary Fibrosis (IPF) Familial Pulmonary Fibrosis (FPF) |
| TGFB2 |
TGF-Beta-2 (TGFB2) |
Familial Thoracic Aortic Aneurysm/Dissection (TAAD) |
| TGFB3 |
TGF-Beta-3 (TGFB3) |
Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 1 (ARVD/C1) |
| TGFBR1 |
TGF-Beta Receptor Type 1 |
Loeys-Dietz Syndrome Familial Thoracic Aortic Aneurysm/Dissection Type 5 (AAT5) Furlong Syndrome |
| TGFBR2 |
TGF-Beta Receptor Type 2 |
Loeys-Dietz Syndrome (LSD) Familial Thoracic Aortic Aneurysm/Dissection Type 3 (AAT3) Marfan Syndrome (MFS) |
| TGFBR3 |
TGF-Beta Receptor Type 3 |
Cerebral Saccular Aneurysm Priapism Aortopathy |
| THEMIS |
Thymocyte Selection Associated |
Arrhythmia |
| TLL1 |
Tolloid-Like 1 |
Congenital Heart Diseases (CHD) Atrial Septal Defect Type 6 (ASD6) |
| TMEM43 |
Transmembrane Protein 43 |
Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Type 5 (ARVD/C5) Emery-Dreifuss Muscular Dystrophy 7 (EDMD7) |
| TMEM70 |
Transmembrane Protein 70 |
Hypertrophic Cardiomyopathy |
| TMPO |
Thymopoietin |
Dilated Cardiomyopathy 1T |
| TNNC1 |
Troponin C Type 1 (Slow) |
Dilated Cardiomyopathy 1Z Familial Hypertrophic 13 |
| TNNI3 |
Cardiac Troponin I |
Dilated Cardiomyopathy 1FF Dilated Cardiomyopathy 2A Familial Hypertrophic Cardiomyopathy 7 Familial Restrictive Cardiomyopathy |
| TNNT2 |
Cardiac Troponin T2 |
Dilated Cardiomyopathy 1D Familial Hypertrophic Cardiomyopathy 2 Familial Restrictive Cardiomyopathy 3 Left Ventricular Noncompaction 6 (LVNC 6) |
| TNXB |
Tenascin XB |
Arrhythmia Autosomal Recessive Ehlers-Danlos Syndrome Due To Tenascin X Deficiency Autosomal Dominant Hypermobility Type Ehlers-Danlos Syndrome |
| TOPBP1 |
DNA Topoisomerase II-Binding Protein 1 |
Pulmonary Arterial Hypertension (PAH) |
| TPM1 |
Tropomyosin 1 |
Dilated Cardiomyopathy 1Y Familial Hypertrophic Cardiomyopathy 3 Left Ventricular Noncompaction 9 (LVNC 9) |
| TPM2 |
Tropomyosin 2 (Beta) |
Arrhythmia |
| TRDN |
Triadin |
TRDN-Related Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) CPVT5 with or without muscle weakness |
| TRPM4 |
Transient Receptor Potential Cation Channel, Subfamily M, Member 2 |
Brugada Syndrome Progressive Familial Heart Block Type IB |
| TSFM |
Mitochondrial Ts Translation Elongation Factor |
Combined Oxidative Phosphorylation Deficiency 3 Hypertrophic Cardiomyopathy |
| TTN |
Titin |
Dilated Cardiomyopathy 1G Limb-Girdle Muscular Dystrophy Type 2J Myopathy, early-onset, with fatal cardiomyopathy Myopathy, proximal, with early respiratory muscle involvement |
| TTR |
Transthyretin |
Familial Amyloid Polyneuropathy (FAP) Cardiomyopathy Senile Systemic Amyloidosis (SSA) |
| TWIST1 |
Twist Family BHLH Transcription Factor 1 |
Congenital Heart Diseases (CHD) Saethre-Chotzen Syndrome Ventricular Septal Defect Robinow-Sorauf Syndrome |
| TXNRD2 |
Thioredoxin Reductase 2 |
Dilated Cardiomyopathy (DCM) |
| USF1 |
Upstream Transcription Factor 1 |
Familial Combined Hyperlipidemia (FCHL) Familial Hypertriglyceridemia Coronary Heart Disease, association with |
| UQCRB |
Ubiquinol-Cytochrome C Reductase Binding Protein |
Congenital Heart Diseases (CHD) Mitochondrial Complex III Deficiency Nuclear Type 3 UQCRB-Related Mitochondrial Respiratory Chain Complex III Deficiency |
| VCL |
Vinculin |
Dilated Cardiomyopathy 1W Familial Hypertrophic Cardiomyopathy 15 Left Ventricular Noncompaction (LVNC) |
| VCP |
Valosin Containing Protein |
Arrhythmia Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1 (IBMPFD1) |
| VHL |
Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase |
Congenital Heart Diseases (CHD) Von Hippel-Lindau Syndrome And Chuvash Polycythaemia |
| XK |
McLeod Syndrome-Associated Kell Blood Group Protein |
Cardiomyopathy Mcleod Syndrome |
| ZFPM2 |
Zinc Finger Protein, FOG Family Member 2 |
Congenital Heart Diseases (CHD) |
| ZIC3 |
Zic Family Member 3 |
X-linked Visceral Heterotaxy Congenital Heart Disease (CHD) Left-Right Axis Defects |
| ZMPSTE24 |
Zinc Metallopeptidase STE24 |
Congenital Heart Diseases (CHD) |
| ZNF469 |
Zinc Finger Protein 469 |
Congenital Heart Diseases (CHD) Brittle Cornea Syndrome |
