Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Familial hypertrophic cardiomyopathy, 1 - (AD) | 10.1 | | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
|  | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 | | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Familial hypertrophic cardiomyopathy, 2 - (AD) | 10.2 | | | | * Cardiomyopathy, dilated, 1D - CMD1D | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 |
|
| Familial hypertrophic cardiomyopathy, 3 - (AD) | 10.3 | | | | * Cardiomyopathy, dilated, 1Y - CMD1Y | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 |
|
| Familial hypertrophic cardiomyopathy, 4 - (AD) | 10.4 | | | cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Dilated cardiomyopathy with MYBPC3 defect |
|
| Familial hypertrophic cardiomyopathy, 6 - (AD) | 10.5 | | | protein kinase, AMP-activated, gamma 2 non-catalytic subunit
|
|
| | * Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 | | * glycogen storage disease of heart, lethal congenital |
|
| Familial hypertrophic cardiomyopathy, 7 - (AD) | 10.6 | | | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
| Familial hypertrophic cardiomyopathy, 8 - (AD) | 10.7 | | | | * Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 |
|
| Familial hypertrophic cardiomyopathy, 9 - (AD) | 10.8 | | | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Hereditry myopathy with early respiratory failure - HMERF | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J | | * Tibial muscular dystrophy, tardive - TMD |
|
| Familial hypertrophic cardiomyopathy, 10 - (AD) | 10.9 | | | | * Cardiomyopathy, familial hypertrophic, 10 - CMH10 | | * Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 |
|
| Familial hypertrophic cardiomyopathy, 11 - (AD) | 10.10 | | | actin, alpha, cardiac muscle precursor
|
|
| | * Asymmetric septal hypertrophy - ASH | | * Cardiomyopathy, dilated, 1R - CMD1R | | * Cardiomyopathy, familial hypertrophic, 11 - CMH11 |
|
| Familial hypertrophic cardiomyopathy, 12 - (AD) | 10.11 | | | Cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
| | * Cardiomyopathy, dilated, 1M - CMD1M | | * Cardiomyopathy, familial hypertrophic, 12 - CMH12 |
|
| Familial hypertrophic cardiomyopathy, 13 - (AD) | 10.12 | | | | * Cardiomyopathy, dilated, 1Z - CMD1Z | | * Familial hypertrophic cardiomyopathy, 13 - CMH13 |
|
| Familial hypertrophic cardiomyopathy, 14 - (AD) | 10.13 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 |
|
| Hypertrophic cardiomyopathy with vinculin deficiency - (-) | 10.14 | | | | * Cardiomyopathy, dilated, 1W - CMD1W | | * Cardiomyopathy, familial hypertrophic, 15 - CMH15 |
|
| Hypertrophic cardiomyopathy | 10.15 | | | myosin light chain kinase 2
|
|
| | * cardiomyopathy, familial hypertrophic - CMH |
|
| Hypertrophic cardiomyopathy | 10.16 | | | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Distal myopathy with caveolin defect | | * Hyperckemia, idiopathic | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Rippling muscle disease - RMD2 |
|
| Hypertrophic cardiomyopathy, early-onset fatal by deficit in COX15 - (AR) | 10.17 | | | COX15 homolog, cytochrome c oxidase assembly protein (yeast)
|
|
| | * Cardiomyopathy, hypertrophic, early-onset fatal |
|
| Hypertrophic cardiomyopathy with myozenin 2 defect - (AD) | 10.18 | | | myozenin 2, or calsarcin 1, a Z disk protein
|
|
| | * Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 | | * Hypertrophic cardiomyopathy with myozenin 2 defect |
|
| Hypertrophic cardiomyopathy with junctophilin defect - (AD) | 10.19 | | | | * Cardiomyopathy, familial hypertrophic, 17 - CMH17 | | * Hypertrophic cardiomyopathy with junctophilin defect |
|
| Hypertrophic cardiomyopathy with phospholamban defect - (AD) | 10.20 | | | | * Cardiomyopathy, dilated, 1P - CMD1P | | * Cardiomyopathy, familial hypertrophic, 18 - CMH18 | | * Hypertrophic cardiomyopathy with phospholamban defect |
|
| Hypertrophic cardiomyopathy with nexilin defect - (AD) | 10.21 | | | Nexilin(F-actin binding protein)
|
|
| | * Cardiomyopathy, dilated, 1CC - CMD1CC | | * Cardiomyopathy, familial hypertrophic 20 - CMH20 | | * Hypertrophic cardiomyopathy with nexilin defect |
|
| Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect - (AD) | 10.22 | | | ankyrin repeat domain 1 (cardiac muscle)
|
|
| | * Dilated cardiomyopathy with cardiac ankyrin repeat protein defect | | * Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect |
|
| Hypertrophic cardiomyopathy with actinin-2 defect - (AD) | 10.23 | | | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Hypertrophic cardiomyopathy with actinin-2 defect |
|
| Hypertrophic mitochondrial cardiomyopathy with NDUFAF1 defect - (AD) | 10.24 | | | NADH-ubiquinone oxidoreductase 1 alpha subcomplex
|
|
| | * Hypertrophic mitochondrial cardiomyopathy with NDUFAF1 defect | | * patient with HCM and isolated respiratory complex I deficiency |
|
| Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect - (AR) | 10.25 | | | mitochondrial ribosomal protein L3
|
|
| | * Hypertrophic mitochondrial cardiomyopathy with MRPL3 defect |
|
| Dilated cardiomyopathy, 1A - (AD) | 10.26 | | | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B | | * restrictive dermopathy |
|
| Dilated cardiomyopathy, 1AA - (AD) | 10.27 | | | | * dilated cardiomyopathy, 1aa - CMD1AA | | * Hypertrophic cardiomyopathy with actinin-2 defect |
|
| Dilated cardiomyopathy, 1B - (AD) | 10.28 | | | | * Cardiomyopathy, familial dilated, 1 - CMD1B |
|
| Dilated cardiomyopathy, 1C - (AD) | 10.29 | | | | * cardiomyopathy, dilated 1C - CMD1C | | * myofibrillar myopathy ZASP-related - MFM4 |
|
| Dilated cardiomyopathy, 1D - (AD) | 10.30 | | | | * Cardiomyopathy, dilated, 1D - CMD1D | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 |
|
| Dilated cardiomyopathy, 1E with conduction disorder and arrythmia - (AD) | 10.31 | | | voltage-gated sodium channel type V alpha
|
|
| | * Brugada syndrome - SCN5A | | * Cardiac conduction defect, progressive - PCCD | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Hereditary bundle branch system defect - HBBD | | * Long QT syndrome-3 - LQT3 | | * Progressive familial heart block, type I - PFHBI | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF |
|
| Dilated cardiomyopathy, 1F - (AD) | 10.32 | | | | * Cardiomyopathy, dilated, 1F - CMD1F |
|
| Dilated cardiomyopathy, 1G - (AD) | 10.33 | | | | * Autosomal dominant myopathy with proximal muscle weakness and early respiratory | | * Cardiomyopathy, dilated, 1G - CMD1G | | * Cardiomyopathy, familial hypertrophic, 9 - CMH9 | | * Congenital myopathy with fatal cardiomyopathy | | * Hereditry myopathy with early respiratory failure - HMERF | | * Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J | | * Tibial muscular dystrophy, tardive - TMD |
|
| Dilated cardiomyopathy, 1H - (AD) | 10.34 | | | | * Cardiomyopathy, dilated, 1H - CMD1H |
|
| Dilated cardiomyopathy, 1I - (AD) | 10.35 | | | | * Desmin-related myopathy - DRM | | * Dilated cardiomyopathy, 1I - CMD1I | | * Myofibrillar myopathy, desmin-related myopathy |
|
| Dilated cardiomyopathy, 1J - (AD) | 10.36 | | | | * Cardiomyopathy, dilated, 1J - CMD1J | | * Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 |
|
| Dilated cardiomyopathy, 1K - (AD) | 10.37 | | | | * Cardiomyopathy, dilated, 1K - CMD1K |
|
| Dilated cardiomyopathy, 1L - (AD) | 10.38 | | | | * Dilated Cardiomyopathy, 1L - CMD1L | | * Muscular dystrophy, limb-girdle, type 2F - LGMD2F |
|
| Dilated cardiomyopathy, 1M - (AD) | 10.39 | | | Cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
| | * Cardiomyopathy, dilated, 1M - CMD1M | | * Cardiomyopathy, familial hypertrophic, 12 - CMH12 |
|
| Dilated cardiomyopathy, 1N - (AD) | 10.40 | | | | * Congenital musuclar dystrophy with telethonin defect | | * Dilated cardiomyopathy, 1N | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
| Dilated cardiomyopathy, 1O - (AD) | 10.41 | | | ATP-binding cassette, sub-family C (member 9)
|
|
| | * Cardiomyopathy, dilated, 1O - CMD1O |
|
| Dilated cardiomyopathy, 1P - (AD) | 10.42 | | | | * Cardiomyopathy, dilated, 1P - CMD1P | | * Cardiomyopathy, familial hypertrophic, 18 - CMH18 | | * Hypertrophic cardiomyopathy with phospholamban defect |
|
| Dilated cardiomyopathy, 1Q - (AD) | 10.43 | | | | * Cardiomyopathy, dilated, 1Q - CMD1Q |
|
| Dilated cardiomyopathy, 1R - (AD) | 10.44 | | | actin, alpha, cardiac muscle precursor
|
|
| | * Asymmetric septal hypertrophy - ASH | | * Cardiomyopathy, dilated, 1R - CMD1R | | * Cardiomyopathy, familial hypertrophic, 11 - CMH11 |
|
| Dilated cardiomyopathy, 1S - (AD) | 10.45 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
| | * Cardiomyopathy, dilated, 1S - CMD1S | | * cardiomyopathy, familial hypertrophic, 1, included - CMH1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Myopathy, distal 1 - MPD1 | | * Myosin storage myopathy |
|
| Dilated cardiomyopathy, 1T - (AD) | 10.46 | | | lamina-associated polypeptide 2
|
|
| | * Cardiomyopathy, dilated, 1T - CMT1T |
|
| Dilated cardiomyopathy, 1U - (AD) | 10.47 | | | | * Cardiomyopathy, dilated, 1W - CMD1U |
|
| Dilated cardiomyopathy, 1W - (AD) | 10.48 | | | | * Cardiomyopathy, dilated, 1W - CMD1W | | * Cardiomyopathy, familial hypertrophic, 15 - CMH15 |
|
| Dilated cardiomyopathy, 1Y - (AD) | 10.49 | | | | * Cardiomyopathy, dilated, 1Y - CMD1Y | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 |
|
| Dilated cardiomyopathy, 1Z - (AD) | 10.50 | | | | * Cardiomyopathy, dilated, 1Z - CMD1Z | | * Familial hypertrophic cardiomyopathy, 13 - CMH13 |
|
| Dilated cardiomyopathy with alpha-crystallin defect - (AD) | 10.51 | | | | * Dilated cardiomyopathy, with alpha-crystallin defect | | * Myofibrillar myopathy, alpha-B crystallin related | | * Myopathy, myofibrillar, 2 - MFM2 |
|
| Dilated cardiomyopathy with MYBPC3 defect - (AD) | 10.52 | | | cardiac myosin binding protein-C
|
|
| | * Cardimyopathy, dilated, 1A - CMD1A | | * Cardiomyopathy, familial hypertrophic, 4 - CMH4 | | * congenital skeletal myopathy and fatal cardiomyopathy | | * Dilated cardiomyopathy with MYBPC3 defect |
|
| Dilated cardiomyopathy due to fukutin defect - (AR) | 10.53 | | | | * fukuyama congenital muscular dystrophy - FCMD | | * Limb-girdle, muscular dystrophy, type 2m - LGMD2M | | * Walker-warburg syndrome - WWS |
|
| Dilated cardiomyopathy due to tafazzin defect - (XR) | 10.54 | | | | * Barth syndrome - BTHS | | * Cardiomyopathy, X-linked dilated - CMD3A | | * Endocardial fibroelastosis-2 - G4.5 | | * Noncompaction of left ventricular myocardium, isolated - INVM |
|
| Dilated cardiomyopathy due to dystrophin defect - (XR) | 10.55 | | | | * Becker muscular distrophy - BMD | | * Cardiomyopathy, Dilated, 3B - CMD3B | | * Cardiomyopathy, dilated, X-linked - XLCM | | * Duchenne muscular dystrophy - DMD |
|
| Dilated cardiomyopathy due to laminin-alpha4 defect - (AD) | 10.56 | | | | * Dilated cardiomyopathy due to laminin-alpha4 defect - LAMA4 |
|
| Dilated cardiomyopathy due to integrin-linked kinase defect - (AD) | 10.57 | | | | * Dilated cardiomyopathy due to integrin-linked kinase defect - ILK |
|
| Dilated cardiomyopathy due to myopalladin defect - (AD) | 10.58 | | | | * Dilated cardiomyopathy due to myopalladin defect |
|
| Dilated cardiomyopathy due to ribonucleic acid binding protein defect - (AD) | 10.59 | | | RNA binding motif protein 20
|
|
| | * Cardiomyopathy, dilated, 1DD - CMD1DD |
|
| Dilated cardiomyopathy due to cardiac ankyrin repeat protein defect - (AD) | 10.60 | | | ankyrin repeat domain 1 (cardiac muscle)
|
|
| | * Dilated cardiomyopathy with cardiac ankyrin repeat protein defect | | * Hypertrophic cardiomyopathy with cardiac ankyrin repeat domain protein defect |
|
| Dilated cardiomyopathy due to cardiac troponin I defect - (AD) | 10.61 | | | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
| Dilated cardiomyopathy due to alpha-myosin heavy chain defect - (AD) | 10.62 | | | | * Cardiomyopathy, dilated, 1EE - CMD1EE | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 | | * Familial hypertrophic cardiomyopathy, 14 - CMH14 |
|
| Dilated cardiomyopathy due to nexilin defect - (AD) | 10.63 | | | Nexilin(F-actin binding protein)
|
|
| | * Cardiomyopathy, dilated, 1CC - CMD1CC | | * Cardiomyopathy, familial hypertrophic 20 - CMH20 | | * Hypertrophic cardiomyopathy with nexilin defect |
|
| Dilated cardiomyopathy with nesprin-1 defect - (AD) | 10.64 | | | spectrin repeat containing, nuclear envelope 1 (nesprin 1)
|
|
| | * Dilated cardiomyopathy with nesprin-1 defect | | * Emery-dreifuss muscular dystrophy 4 - EDMD4 | | * Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 |
|
| Dilated cardiomyopathy with MURC defect - (AD) | 10.65 | | | muscle-related coiled-coil protein
|
|
| | * Dilated cardiomyopathy with MURC defect |
|
| Restrictive cardiomyopathy, 1 - (AD) | 10.66 | | | | * Cardiomyopathy, familial hypertrophic - CMH7 | | * Cardiomyopathy, familial restrictive - RCM |
|
| Restrictive cardiomyopathy, 2 - ( ) | 10.67 | | | | * Restrictive cardiomyopathy, 2 - RCM2 |
|
| Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR) | 10.68 | | | acid alpha-glucosidase preproprotein
|
|
| | * Glycogen storage disease II - GSDII |
|
| Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR) | 10.69 | | | | * Barth syndrome - BTHS | | * Cardiomyopathy, X-linked dilated - CMD3A | | * Endocardial fibroelastosis-2 - G4.5 | | * Noncompaction of left ventricular myocardium, isolated - INVM |
|
| Noncompaction of left ventricular myocardium with congenital heart defects - (AD) | 10.70 | | | | * Left ventricular noncompaction with congenital heart defects | | * Left ventricular noncompaction, familial isolated - LVNC |
|
| Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR) | 10.71 | | | filamin A, alpha (actin binding protein 280)
|
|
| | * cardiac valvular dysplasia, x-linked - CVD1 | | * Myxomatous valvular dystrophy, X-ninked - XMVD |
|
| Arrhythmogenic right ventricular dysplasia, 1 - (AD) | 10.72 | | | transforming growth factor, beta 3
|
|
| | * Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 | | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 |
|
| Arrhythmogenic right ventricular dysplasia, 2 - (AD) | 10.73 | | | | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 | | * Arrhythmogenic right ventricular dysplasia 2 - ARVD2 | | * Ventricular tachycardia, catecholaminergic polymorphic - CPVT | | * Ventricular tachycardia, stress-induced polymorphic - VTSIP |
|
| Arrhythmogenic right ventricular dysplasia, 3 - (AD) | 10.74 | | | | * Arrhythmogenic right ventricular cardiomyopathy 3 - ARVC3 | | * Arrhythmogenic right ventricular dysplasia-3 - ARVD3 |
|
| Arrhythmogenic right ventricular dysplasia, 4 - (AD) | 10.75 | | | | * Arrhythmogenic right ventricular cardiomyopathy 4 - ARVC4 | | * Arrhythmogenic right ventricular dysplasia, familial, 4 - ARVD4 |
|
| Arrhythmogenic right ventricular dysplasia, 5 - (AD) | 10.76 | | | | * arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 | | * luma related muscular dystrophy |
|
| Arrhythmogenic right ventricular dysplasia, 6 - (AD) | 10.77 | | | | * Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 | | * Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 |
|
| Arrhythmogenic right ventricular dysplasia, 7 - ( AD) | 10.78 | | | | * Arrhythmogenic right ventricular dysplasia , 7 - ARVD7 |
|
| Arrhythmogenic right ventricular dysplasia, 8 - ( ) | 10.79 | | | | * Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 |
|
| Arrhythmogenic right ventricular dysplasia, 9 - ( ) | 10.80 | | | | * Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 |
|
| Arrhythmogenic right ventricular dysplasia, 10 - (AD) | 10.81 | | | | * Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 |
|
| Arrhythmogenic right ventricular dysplasia, 11 - (AD) | 10.82 | | | | * Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 |
|
| Arrhythmogenic right ventricular dysplasia, 12 - (AD) | 10.83 | | | | * arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 | | * naxos disease |
|
| Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD) | 10.84 | | | | * Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 | | * Arrhythmogenic right ventricular dysplasia 2 - ARVD2 | | * Ventricular tachycardia, catecholaminergic polymorphic - CPVT | | * Ventricular tachycardia, stress-induced polymorphic - VTSIP |
|
| Ventricular tachycardia, catecholaminergic polymorphic, recessive - (AR) | 10.85 | | | calsequestrin 2 (cardiac muscle)
|
|
| | * ventricular tachycardia, catecholaminergic polymorphi - CPVT |
|
| Naxos disease - (AR) | 10.86 | | | | * arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 | | * naxos disease |
|
| Long QT syndrome 1 - (AD) | 10.87 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Long QT syndrome-1 - LQT1 | | * Romano-Ward syndrome - RWS |
|
| Long QT syndrome 2 - (AD) | 10.88 | | | voltage-gated potassium channel, subfamily H, member 2
|
|
| | * Long QT syndrome-2 - LQT2 | | * Short qt syndrome 1 - SQT1 |
|
| Long QT syndrome 3 - (AD) | 10.89 | | | voltage-gated sodium channel type V alpha
|
|
| | * Brugada syndrome - SCN5A | | * Cardiac conduction defect, progressive - PCCD | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Hereditary bundle branch system defect - HBBD | | * Long QT syndrome-3 - LQT3 | | * Progressive familial heart block, type I - PFHBI | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF |
|
| Long QT syndrome 4 - (AD) | 10.90 | | | | * Long QT syndrome-4 - LQT4 |
|
| Long QT syndrome 5 - (AD) | 10.91 | | | potassium voltage-gated channel, Isk-related family, member 1
|
|
| | * Jervell and Lange-Nielsen syndrome - JLNS1 | | * Long QT syndrome-5 - LQT5 |
|
| Long QT syndrome 6 - (AD) | 10.92 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD) | 10.93 | | | potassium inwardly-rectifying channel J2
|
|
| | * Long QT syndrome-7 - LQT7 | | * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS |
|
| Long QT syndrome 8 (Timothy syndrome) - (AD) | 10.94 | | | calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
| | * brugada syndrome 3 | | * Timothy syndrome - LQT8 |
|
| Long QT syndrome 9 - (AD) | 10.95 | | | | * cardiomyopathy, familial hypertrophic - CMH | | * Creatine phosphokinase, elevated serum - CPK | | * Distal myopathy with caveolin defect | | * Hyperckemia, idiopathic | | * Long QT syndrome 9 - LQT9 | | * Muscular dystrophy, limb-girdle, type IC - LGMD1C | | * Rippling muscle disease - RMD2 |
|
| Short QT syndrome 1 - (AD) | 10.96 | | | voltage-gated potassium channel, subfamily H, member 2
|
|
| | * Long QT syndrome-2 - LQT2 | | * Short qt syndrome 1 - SQT1 |
|
| Short QT syndrome 2 - (AD) | 10.97 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Long QT syndrome-1 - LQT1 | | * Romano-Ward syndrome - RWS |
|
| Short QT syndrome 3 - (AD) | 10.98 | | | potassium inwardly-rectifying channel J2
|
|
| | * Long QT syndrome-7 - LQT7 | | * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS |
|
| Jervell and Lange-Nielsen cardio-auditory syndrome - (AR) | 10.99 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Long QT syndrome-1 - LQT1 | | * Romano-Ward syndrome - RWS |
|
| Jervell and Lange-Nielsen cardio-auditory syndrome - (AR) | 10.100 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
| Atrial fibrillation, 1 - (AD) | 10.101 | | | | * Atrial fibrillation, 1 - ATFB1 |
|
| Atrial fibrillation, 2 - (AD) | 10.102 | | | | * Atrial fibrillation, 2 - ATFB2 |
|
| Atrial fibrillation, 3 - (AD) | 10.103 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
| | * Atrial fibrillation, 3 - ATFB3 | | * jervell and lange-nielsen syndrome - JLNS1 | | * Long QT syndrome-1 - LQT1 | | * Romano-Ward syndrome - RWS |
|
| Atrial fibrillation, 4 - (AD) | 10.104 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
| Atrial fibrillation, 5 - (AD) | 10.105 | | | | * atrial fibrillation, familial, 5 - ATFB5 |
|
| Atrial fibrillation, 6 - (AD) | 10.106 | | | natriuretic peptide precursor A
|
|
| | * atrial fibrillation, familial, 6 - ATFB6 |
|
| Atrial fibrillation, 7 - (AD) | 10.107 | | | potassium voltage-gated channel, shaker-related subfamily, member 5
|
|
| | * atrial fibrillation, familial - ATFB7 |
|
| Atrial fibrillation, 8 - (AD) | 10.108 | | | | * atrial fibillation, familial, 8 - ATFB8 |
|
| Atrial fibrillation - (AD) | 10.109 | | | | * atrial fibrillation, familial, 1 - ATFB1 |
|
| Atrial standstill - (AD) | 10.110 | | | | * atrial fibrillation, familial, 1 - ATFB1 |
|
| Brugada syndrome 1 - (AD) | 10.111 | | | voltage-gated sodium channel type V alpha
|
|
| | * Brugada syndrome - SCN5A | | * Cardiac conduction defect, progressive - PCCD | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Hereditary bundle branch system defect - HBBD | | * Long QT syndrome-3 - LQT3 | | * Progressive familial heart block, type I - PFHBI | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF |
|
| Brugada syndrome 2 - (AD) | 10.112 | | | glycerol-3-phosphate dehydrogenase 1-like
|
|
| | * brugada syndrome 2 |
|
| Brugada syndrome 3 - (AD) | 10.113 | | | calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
| | * brugada syndrome 3 | | * Timothy syndrome - LQT8 |
|
| Brugada syndrome 4 - (AD) | 10.114 | | | calcium channel, voltage-dependent, beta 2 subunit
|
|
| | * brugada syndrome 4 |
|
| Sick sinus syndrome, dominant - (AD) | 10.115 | | | hyperpolarization activated cyclic nucleotide-gated potassium channel 4
|
|
| | * familial sinusal bradycardia - FSBD | | * Sick Sinus Syndrome 2, autosomal dominant - SSS2 |
|
| Sick sinus syndrome, recessive - (AR) | 10.116 | | | voltage-gated sodium channel type V alpha
|
|
| | * Brugada syndrome - SCN5A | | * Cardiac conduction defect, progressive - PCCD | | * Cardiomyopathy, dilated, 1E - CMD1E | | * Hereditary bundle branch system defect - HBBD | | * Long QT syndrome-3 - LQT3 | | * Progressive familial heart block, type I - PFHBI | | * Sick Sinus Syndrome 1, autosomal recessive - SSS1 | | * Ventricular fibrillation, idiopathic - IVF | | * Ventricular fibrillation, paroxysmal familial - VF |
|
