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
|
|
|  | Asymetric septal hypertrophy, hereditary -ASH |  | Cardiomyopathy, familial hypertrophic -CMH |  | Cardiomyopathy, dilated, 1A -CMD1A |  | Cardiomyopathy, dilated, 1S -CMD1S |  | cardiomyopathy, dilated, 1s, included -CMD1S |  | cardiomyopathy, familial hypertrophic, 1, included -CMH1 |  | Familial hypertrophic cardiomyopathy -FHC1 |  | Myopathy, distal 1 -MPD1 |  | Myosin storage myopathy -MYH7 |
|
| Familial hypertrophic cardiomyopathy, 2 - (AD) | 10.2 | | |  | Cardiomyopathy, dilated, 1D -CMD1D |  | Cardiomyopathy, familial hypertrophic, 2 -CMH2 |
|
| Familial hypertrophic cardiomyopathy, 3 - (AD) | 10.3 | | |  | Cardiomyopathy, familial hypertrophic, 3 -CMH3 |
|
| Familial hypertrophic cardiomyopathy, 4 - (AD) | 10.4 | | | cardiac myosin binding protein-C
|
|
|  | Cardiomyopathy, familial hypertrophic, 4 -CMH4 |  | congenital skeletal myopathy and fatal cardiomyopathy - |
|
| 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 |
|
| 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 | | |  | Cardiomyopathy, dilated, 1G -CMD1G |  | Cardiomyopathy, familial hypertrophic, 9 -CMH9 |  | 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, 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 -CMH1 |
|
| Familial hypertrophic cardiomyopathy, 12 - (AD) | 10.11 | | | myosin light chain kinase 2
|
|
|  | cardiomyopathy, familial hypertrophic -CMH |
|
| Familial hypertrophic cardiomyopathy, 13 - (AD) | 10.12 | | |  | cardiomyopathy, familial hypertrophic -CMH |  | Creatine phosphokinase, elevated serum -CPK |  | Hyperckemia, idiopathic -CAV3 |  | Muscular dystrophy, limb-girdle, type IC -LGMD1C |  | Rippling muscle disease -RMD2 |
|
| Hypertrophic cardiomyopathy with vinculin deficiency - (-) | 10.13 | | |  | Cardiomyopathy, dilated, 1W -CMD1W |  | Metavinculin, included -VCL |
|
| Early -onset fatal hypertrophic cardiomyopathy cardiomyopathies - (AR) | 10.13 | | | COX15 homolog, cytochrome c oxidase assembly protein (yeast)
|
|
|  | Cardiomyopathy, hypertrophic, early-onset fatal - |
|
| Dilated cardiomyopathy, 1A - (AD) | 10.14 | | |  | 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 |  | Lipodystrophy, familial partial, type 2 -FPLD2 |  | Mandibuloacral dysplasia with type a lipodystrophy -MADA |  | Muscular dystrophy, limb-girdle, type 1B -LGMD1B |  | restrictive dermopathy - |  | restrictive dermopathy - |
|
| Dilated cardiomyopathy, 1AA - (AD) | 10.15 | | |  | dilated cardiomyopathy, 1aa -CMD1AA |
|
| Dilated cardiomyopathy, 1B - (AD) | 10.16 | | |  | Cardiomyopathy, familial dilated, 1 -CMD1B |
|
| Dilated cardiomyopathy, 1C - (AD) | 10.17 | | |  | cardiomyopathy, dilated 1C -CMD1C |  | myofibrillar myopathy ZASP-related -MFMZ |
|
| Dilated cardiomyopathy, 1D - (AD) | 10.18 | | |  | Cardiomyopathy, dilated, 1D -CMD1D |  | Cardiomyopathy, familial hypertrophic, 2 -CMH2 |
|
| Dilated cardiomyopathy, 1E with conduction disorder and arrythmia - (AD) | 10.19 | | | 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) | 10.20 | | |  | Cardiomyopathy, dilated, 1F -CMD1F |
|
| Dilated cardiomyopathy, 1G - (AD) | 10.21 | | |  | Cardiomyopathy, dilated, 1G -CMD1G |  | Cardiomyopathy, familial hypertrophic, 9 -CMH9 |  | Hereditry myopathy with early respiratory failure -HMERF |  | Limb girdle muscular dystrophy 2J (autosomal recessive) -LGMD2J |  | Tibial muscular dystrophy, tardive -TMD |
|
| Dilated cardiomyopathy, 1H - (AD) | 10.22 | | |  | Cardiomyopathy, dilated, 1H -CMD1H |
|
| Dilated cardiomyopathy, 1I - (AD) | 10.23 | | |  | Cardiomyopathy, dilated, 1I -CMD1I |  | Myopathy, desmin-related, cardioskeletal -DES |
|
| Dilated cardiomyopathy, 1J - (AD) | 10.24 | | |  | Cardiomyopathy, dilated, 1J -CMD1J |  | Deafness, autosomal dominant nonsyndromic sensorineural 10 -DFNA10 |
|
| Dilated cardiomyopathy, 1K - (AD) | 10.25 | | |  | Cardiomyopathy, dilated, 1K -CMD1K |
|
| Dilated cardiomyopathy, 1L - (AD) | 10.26 | | |  | Cardiomyopathy, dilated, 1L -CMD1L |  | Cardiomyopathy, dilated, 1L -CMD1L |  | Muscular dystrophy, limb-girdle, type 2F -LGMD2F |
|
| Dilated cardiomyopathy, 1M - (AD) | 10.27 | | | Cysteine and glycine-rich protein 3 (cardiac LIM protein)
|
|
|  | Cardiomyopathy, dilated, 1M -CMD1M |
|
| Dilated cardiomyopathy, 1N - (AD) | 10.28 | | |  | Cardiomyopathy, dilated, 1N -CMD1N |  | Muscular dystrophy, limb-girdle, type 2G -LGMD2G |
|
| Dilated cardiomyopathy, 1O - (AD) | 10.29 | | | ATP-binding cassette, sub-family C (member 9)
|
|
|  | Cardiomyopathy, dilated, 1O -CMD1O |
|
| Dilated cardiomyopathy, 1P - (AD) | 10.30 | | |  | Cardiomyopathy, dilated, 1P -CMD1P |  | Cardiomyopathy, idiopathic dilated -PLN |
|
| Dilated cardiomyopathy, 1Q - (AD) | 10.31 | | |  | Cardiomyopathy, dilated, 1Q -CMD1Q |
|
| Dilated cardiomyopathy, 1R - (AD) | 10.32 | | | actin, alpha, cardiac muscle precursor
|
|
|  | Asymmetric septal hypertrophy -ASH |  | Cardiomyopathy, dilated, 1R -CMD1R |  | Cardiomyopathy, familial hypertrophic -CMH1 |
|
| Dilated cardiomyopathy, 1S - (AD) | 10.33 | | | myosin, heavy polypeptide 7, cardiac muscle, beta
|
|
|  | Cardiomyopathy, dilated, 1A -CMD1A |  | Cardiomyopathy, dilated, 1S -CMD1S |  | cardiomyopathy, dilated, 1s, included -CMD1S |  | cardiomyopathy, familial hypertrophic, 1, included -CMH1 |  | Familial hypertrophic cardiomyopathy -FHC1 |  | Myopathy, distal 1 -MPD1 |  | Myosin storage myopathy -MYH7 |
|
| Dilated cardiomyopathy, 1T - (AD) | 10.34 | | | lamina-associated polypeptide 2
|
|
|  | Cardiomyopathy, dilated, 1T -CMT1T |
|
| Dilated cardiomyopathy, 1W - (AD) | 10.35 | | |  | Cardiomyopathy, dilated, 1W -CMD1W |  | Metavinculin, included -VCL |
|
| Dilated cardiomyopathy, 1Z - (AD) | 10.36 | | |  | Cardiomyopathy, dilated, 1Z -CMD1Z |
|
| Dilated cardiomyopathy due to fukutin defect - (AR) | 10.37 | | |  | cardiomyopathy, dilated, 1x -CMD1X |  | Muscular dystrophy, Fukuyama congenital -FCMD |  | Muscular dystrophy, limb-girdle, type 2L -LGMD2L |  | Walker-Warburg syndrome -WWS |
|
| Dilated cardiomyopathy due to tafazzin defect - (XR) | 10.38 | | |  | 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) | 10.39 | | |  | 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) | 10.40 | | |  | dilated cardiomyopathy due to laminin-alpha4 defect -LAMA4 |
|
| Dilated cardiomyopathy due to integrin-linked kinase defect - (AD) | 10.41 | | |  | dilated cardiomyopathy due to integrin-linked kinase defect -ILK |
|
| Dilated cardiomyopathy due to myopalladin defect - (AD) | 10.42 | | | |
| Dilated cardiomyopathy due to ribonucleic acid binding protein defect - (AD) | 10.43 | | | RNA binding motif protein 20
|
|
| |
| Dilated cardiomyopathy due to cardiac ankyrin repeat protein defect - (AD) | 10.44 | | | ankyrin repeat domain 1 (cardiac muscle)
|
|
| |
| Dilated cardiomyopathy due to cardiac troponin I - (AD) | 10.45 | | |  | Cardiomyopathy, familial hypertrophic -CMH7 |  | Cardiomyopathy, familial restrictive -RCM |
|
| Dilated cardiomyopathy due to alpha-myosin heavy chain - (AD) | 10.46 | | |  | Asymetric septal hypertrophy, hereditary -ASH |  | Cardiomyopathy, familial hypertrophic -CMH |
|
| Restrictive cardiomyopathy, 1 - (AD) | 10.47 | | |  | Cardiomyopathy, familial hypertrophic -CMH7 |  | Cardiomyopathy, familial restrictive -RCM |
|
| Restrictive cardiomyopathy, 2 - ( ) | 10.48 | | |  | Restrictive cardiomyopathy, 2 -RCM2 |
|
| Pompe disease Glycogenosis, generalized, cardiac form (early and late onset) - (AR) | 10.49 | | | acid alpha-glucosidase preproprotein
|
|
|  | Glycogen storage disease II -GSDII |
|
| Cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) - (XR) | 10.50 | | |  | 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) | 10.51 | | |  | Left ventricular noncompaction with congenital heart defects - |  | Left ventricular noncompaction, familial isolated -LVNC |
|
| Cardiovalvular dysplasia, X-linked (Myxomatous valvular dystrophy) - (XR) | 10.52 | | | filamin A, alpha (actin binding protein 280)
|
|
|  | cardiac valvular dysplasia, x-linked -CVD1 |  | MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED -XMVD |
|
| Arrhythmogenic right ventricular dysplasia, 1 - (AD) | 10.53 | | | transforming growth factor, beta 3
|
|
|  | Arrhythmogenic right ventricular dysplasia, 1 -TGFB3 |  | Arrhythmogenic right ventricular dysplasia, familial, 1 -ARVD1 |
|
| Arrhythmogenic right ventricular dysplasia, 2 - (AD) | 10.54 | | |  | 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) | 10.55 | | |  | Arrhythmogenic right ventricular cardiomyopathy 3 -ARVC3 |  | Arrhythmogenic right ventricular dysplasia-3 -ARVD3 |
|
| Arrhythmogenic right ventricular dysplasia, 4 - (AD) | 10.56 | | |  | Arrhythmogenic right ventricular cardiomyopathy 4 -ARVC4 |  | Arrhythmogenic right ventricular dysplasia, familial, 4 -ARVD4 |
|
| Arrhythmogenic right ventricular dysplasia, 5 - (AD) | 10.57 | | |  | arrhythmogenic right ventricular dysplasia, familial, 5 -ARVD5 |
|
| Arrhythmogenic right ventricular dysplasia, 6 - (AD) | 10.58 | | |  | Arrhythmogenic right ventricular cardiomyopathy 6 -ARVC6 |  | Arrhythmogenic right ventricular dysplasia, familial, 6 -ARVD6 |
|
| Arrhythmogenic right ventricular dysplasia , 7 - ( ) | 10.59 | | |  | Arrhythmogenic right ventricular dysplasia , 7 -ARVD7 |
|
| Arrhythmogenic right ventricular dysplasia, 8 - ( ) | 10.60 | | |  | Arrhythmogenic right ventricular dysplasia, 8 -ARVD8 |
|
| Arrhythmogenic right ventricular dysplasia, 9 - ( ) | 10.61 | | |  | Arrhythmogenic right ventricular dysplasia, 9 -ARDV9 |
|
| Arrhythmogenic right ventricular dysplasia, 10 - (AD) | 10.62 | | |  | Arrhythmogenic right ventricular dysplasia, 10 -ARVD10 |
|
| Arrhythmogenic right ventricular dysplasia, 11 - (AD) | 10.63 | | |  | Arrhythmogenic right ventricular dysplasia, 11 -ARVD11 |
|
| Arrhythmogenic right ventricular dysplasia, 12 - (AD) | 10.64 | | |  | arrhythmogenic right ventricular dysplasia, familial, 12 -ARVD12 |  | naxos disease - |
|
| Ventricular tachycardia, catecholaminergic polymorphic, dominant - (AD) | 10.65 | | |  | 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) | 10.66 | | | calsequestrin 2 (cardiac muscle)
|
|
|  | ventricular tachycardia, catecholaminergic polymorphi -CPVT |
|
| Naxos disease - (AR) | 10.67 | | |  | arrhythmogenic right ventricular dysplasia, familial, 12 -ARVD12 |  | naxos disease - |
|
| Long QT syndrome 1 - (AD) | 10.68 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
|  | Atrial fibrillation, familial, 1 -ATFB1 |  | jervell and lange-nielsen syndrome -JLNS1 |  | Long QT syndrome-1 -LQT1 |  | Romano-Ward syndrome -RWS |
|
| Long QT syndrome 2 - (AD) | 10.69 | | | voltage-gated potassium channel, subfamily H, member 2
|
|
|  | Long QT syndrome-2 -LQT2 |  | Short qt syndrome 1 -SQT1 |
|
| Long QT syndrome 3 - (AD) | 10.70 | | | 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) | 10.71 | | |  | Long QT syndrome-4 -LQT4 |
|
| Long QT syndrome 5 - (AD) | 10.72 | | | 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) | 10.73 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
|  | Atrial fibrillation, 1 -ATFB1 |  | Long QT syndrome-6 -LQT6 |
|
| Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (AD) | 10.74 | | | 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) | 10.75 | | | calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
|  | brugada syndrome 3 - |  | timothy syndrome -LQT8 |
|
| Long QT syndrome 9 - (AD) | 10.76 | | |  | cardiomyopathy, familial hypertrophic -CMH |  | Creatine phosphokinase, elevated serum -CPK |  | Hyperckemia, idiopathic -CAV3 |  | Muscular dystrophy, limb-girdle, type IC -LGMD1C |  | Rippling muscle disease -RMD2 |
|
| Short QT syndrome 1 - (AD) | 10.78 | | | voltage-gated potassium channel, subfamily H, member 2
|
|
|  | Long QT syndrome-2 -LQT2 |  | Short qt syndrome 1 -SQT1 |
|
| Short QT syndrome 2 - (AD) | 10.79 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
|  | Atrial fibrillation, familial, 1 -ATFB1 |  | jervell and lange-nielsen syndrome -JLNS1 |  | Long QT syndrome-1 -LQT1 |  | Romano-Ward syndrome -RWS |
|
| Short QT syndrome 3 - (AD) | 10.80 | | | 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) | 10.81 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
|  | Atrial fibrillation, familial, 1 -ATFB1 |  | jervell and lange-nielsen syndrome -JLNS1 |  | Long QT syndrome-1 -LQT1 |  | Romano-Ward syndrome -RWS |
|
| Jervell and Lange-Nielsen cardio-auditory syndrome - (AR) | 10.82 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
|  | Atrial fibrillation, 1 -ATFB1 |  | Long QT syndrome-6 -LQT6 |
|
| Atrial fibrillation, 1 - (AD) | 10.83 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
|  | Atrial fibrillation, familial, 1 -ATFB1 |  | jervell and lange-nielsen syndrome -JLNS1 |  | Long QT syndrome-1 -LQT1 |  | Romano-Ward syndrome -RWS |
|
| Atrial fibrillation, 2 - (AD) | 10.84 | | |  | Atrial fibrillation, 2 -ATFB2 |
|
| Atrial fibrillation, 3 - (AD) | 10.85 | | | potassium voltage-gated channel, KQT-like subfamily, member 1
|
|
|  | Atrial fibrillation, familial, 1 -ATFB1 |  | jervell and lange-nielsen syndrome -JLNS1 |  | Long QT syndrome-1 -LQT1 |  | Romano-Ward syndrome -RWS |
|
| Atrial fibrillation, 4 - (AD) | 10.86 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
|  | Atrial fibrillation, 1 -ATFB1 |  | Long QT syndrome-6 -LQT6 |
|
| Atrial fibrillation, 5 - (AD) | 10.87 | | |  | atrial fibrillation, familial, 5 -ATFB5 |
|
| Atrial fibrillation, 6 - (AD) | 10.88 | | | natriuretic peptide precursor A
|
|
|  | atrial fibrillation, familial, 6 -ATFB6 |
|
| Atrial fibrillation, 7 - (AD) | 10.89 | | | potassium voltage-gated channel, shaker-related subfamily, member 5
|
|
|  | atrial fibrillation, familial -ATFB7 |
|
| Atrial fibrillation, 8 - (AD) | 10.90 | | |  | atrial fibillation, familial, 8 -ATFB8 |
|
| Atrial fibrillation - (AD) | 10.91 | | |  | atrial fibrillation, familial, 1 -ATFB1 |
|
| Atrial standstill - (AD) | 10.92 | | |  | atrial fibrillation, familial, 1 -ATFB1 |
|
| Brugada syndrome 1 - (AD) | 10.93 | | | 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) | 10.94 | | | glycerol-3-phosphate dehydrogenase 1-like
|
|
|  | brugada syndrome 2 - |
|
| Glycogen storage disease II (Pompe disease) - (AR) | 10.95 | | | acid alpha-glucosidase preproprotein
|
|
|  | Glycogen storage disease II -GSDII |
|
| Brugada syndrome 3 - (AD) | 10.96 | | | calcium channel, voltage-dependent, L type, alpha 1C subunit
|
|
|  | brugada syndrome 3 - |  | timothy syndrome -LQT8 |
|
| Brugada syndrome 4 - (AD) | 10.97 | | | calcium channel, voltage-dependent, beta 2 subunit
|
|
|  | brugada syndrome 4 - |
|
| Sick sinus syndrome, dominant - (AD) | 10.98 | | | hyperpolarization activated cyclic nucleotide-gated potassium channel 4
|
|
|  | familial sinusal bradycardia -FSBD |  | Sick Sinus Syndrome 2, autosomal dominant -SSS2 |
|
| Sick sinus syndrome, recessive - (AR) | 10.99 | | | 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 |
|