Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Myotonia congenita , dominant (Thomsen) - (AD) | 7.1 | | | chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
|  | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR | | * Myotonia recessive - CLC1 |
|
| Myotonia, recessive (Becker) - (AR) | 7.2 | | | chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
|
| | * Myotonia congenita, autosomal dominant, Thomsen disease - THD | | * Myotonia congenita, autosomal recessive, Becker disease - MCR | | * Myotonia recessive - CLC1 |
|
| Hyperkalemic periodic paralysis - (AD) | 7.3 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Myotonia potassium-aggravatd | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia | | * Sodium-channel myasthenia |
|
| Hypokalemic periodic paralysis type 2 - (AD) | 7.4 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Myotonia potassium-aggravatd | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia | | * Sodium-channel myasthenia |
|
| Paramyotonia congenita - (AD) | 7.5 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Myotonia potassium-aggravatd | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia | | * Sodium-channel myasthenia |
|
| Potassium aggravated myotonia - (AD) | 7.6 | | | sodium channel, voltage-gated, type IV, alpha
|
|
| | * Hyperkalemic periodic paralysis - HYPP | | * Hyperkalemic periodic paralysis, type 2 - HOKPP2 | | * Myotonia potassium-aggravatd | | * Paramyotonia congenita of Von Eulenburg - PMC | | * Potassium-aggravated myotonia | | * Sodium-channel myasthenia |
|
| Long QT syndrome (Romano-Ward syndrome) - (AD) | 7.7 | | | 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 |
|
| Hypokalaemic periodic paralysis type 1 - (AD) | 7.8 | | | calcium channel, voltage-dependent, L type, alpha 1S subunit
|
|
| | * Hypokalaemic periodic paralysis, type 1 - hypoKPP1 | | * Hypokalemic periodic paralysis - CACNL1A3 | | * Malignant hyperthermia susceptibility 5 - MHS5 |
|
| Acetazolamide responsive hereditary paroxysmal cerebellar ataxia - (AD) | 7.9 | | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA | | * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA | | * Cerebellar ataxia, pure - CACNA1A | | * Episodic ataxia, type 2 - EA2 | | * Hemiplegic migraine, familial - FHM1 | | * Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 | | * Spinocerebellar ataxia 6 - SCA6 |
|
| Episodic ataxia type-2 - (AD) | 7.10 | | | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
|
|
| | * Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA | | * Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA | | * Cerebellar ataxia, pure - CACNA1A | | * Episodic ataxia, type 2 - EA2 | | * Hemiplegic migraine, familial - FHM1 | | * Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 | | * Spinocerebellar ataxia 6 - SCA6 |
|
| Hypokalemic periodic paralysis type 3 - (AD) | 7.11 | | | Potassium voltage-gated channel, Isk-related family, member 3
|
|
| | * Hypokalaemic periodic paralysis, type 3 - hypoKPP3 |
|
| Episodic ataxia/myokymia - (AD) | 7.12 | | | potassium voltage-gated channel, shaker-related subfamily, member 1
|
|
| | * Episodic ataxia with myokymia - EA1 |
|
| Thyrotoxic hypokalemic periodic paralysis | 7.13 | | | Kir2.6 (inwardly rectifying potassium channel 2.6)
|
|
| | * Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 |
|
| Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - (AD) | 7.14 | | | potassium inwardly-rectifying channel J2
|
|
| | * Long QT syndrome-7 - LQT7 | | * Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS |
|
| Long QT syndrome (Romano-Ward syndrome) - (AD) | 7.15 | | | voltage-gated potassium channel, subfamily H, member 2
|
|
| | * Long QT syndrome-2 - LQT2 | | * Short qt syndrome 1 - SQT1 |
|
| Potassium channel Long QT syndrome (Romano-Ward syndrome) - (AD) | 7.16 | | | 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 |
|
| Potassium channel Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) - (AR) | 7.17 | | | 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 |
|
| Potassium channel Long QT syndrome (Romano-Ward syndrome) - (AD) | 7.18 | | | potassium voltage-gated channel, Isk-related family, member 2
|
|
| | * Atrial fibrillation, 4 - ATFB4 | | * Long QT syndrome-6 - LQT6 |
|
| Long QT syndrome (Jervell and Lange-Nielsen cardioauditory syndrome) - (AR) | 7.19 | | | potassium voltage-gated channel, Isk-related family, member 1
|
|
| | * Jervell and Lange-Nielsen syndrome - JLNS1 | | * Long QT syndrome-5 - LQT5 |
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