Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| calcium channel, voltage-dependent, beta 2 subunit | |  * brugada syndrome 4 - (10.114)
|
calcium channel, voltage-dependent, beta 4 subunit | | * episodic ataxia type 5, included - EA5 (13.32)
| calcium channel, voltage-dependent, L type, alpha 1C subunit | | * Timothy syndrome - LQT8 (10.113, 10.94)
* brugada syndrome 3 - (10.113, 10.94)
| calcium channel, voltage-dependent, L type, alpha 1S subunit | | * Hypokalemic periodic paralysis - CACNL1A3 (7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (7.8, 8.5)
| calcium channel, voltage-dependent, P/Q type, alpha 1A subunit | | * Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.30, 13.35)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.30, 13.35)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.30, 13.35)
* Migraine familial hemiplegic 1, with progressive cerebellar ataxia - MHP1 (7.9, 7.10, 13.6, 13.30, 13.35)
* Hemiplegic migraine, familial - FHM1 (7.9, 7.10, 13.6, 13.30, 13.35)
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.30, 13.35)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.30, 13.35)
| calpain 3 | | * Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19)
| calsequestrin 2 (cardiac muscle) | | * ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.85)
| cardiac myosin binding protein-C | | * Dilated cardiomyopathy with MYBPC3 defect - (3.32, 10.4, 10.52)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.32, 10.4, 10.52)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.32, 10.4, 10.52)
* Cardimyopathy, dilated, 1A - CMD1A (3.32, 10.4, 10.52)
| carnitine palmitoyltransferase II | | * Myopathy due to CPT II deficiency - CPT2 (9.15)
* CPT deficiency, hepatic, type II - CPT2 (9.15)
* Hypoglycemia hypoketonic, with deficiency of carnitine palmitoyltransferase II - CPTase (9.15)
| carnitine-acylcarnitine translocase | | * Carnitine-acylcarnitine translocase deficiency - CACT (9.17)
| caveolin 3 | | * Distal myopathy with caveolin defect - (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* Long QT syndrome 9 - LQT9 (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* Hyperckemia, idiopathic - (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* Creatine phosphokinase, elevated serum - CPK (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* cardiomyopathy, familial hypertrophic - CMH (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* Rippling muscle disease - RMD2 (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.13, 4.11, 5.17, 6.6, 6.7, 10.16, 10.95)
| chaperone, ABC1 activity of bc1 complex homolog (S. pombe) | | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.48)
| chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) | | * Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.3, 6.4, 7.1, 7.2)
* Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2)
* Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2)
| choline acetyltransferase isoform | | * Myasthenia gravis, autosomal recessive - MGI (11.12)
* Myasthenia gravis, familial infantile - FIMG (11.12)
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.12)
* Myasthenia gravis, familial infantile, 2 - FIMG2 (11.12)
| choline kinase beta | | * Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.28)
| cholinergic receptor, nicotinic, alpha polypeptide 1 | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5)
| cholinergic receptor, nicotinic, beta 1 muscle | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8)
* Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
| cholinergic receptor, nicotinic, delta | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.6, 11.9)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.6, 11.9)
| cholinergic receptor, nicotinic, epsilon | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.7, 11.10)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.7, 11.10)
| cholinergic receptor, nicotinic, gamma polypeptide | | * Escobar syndrome (multiple pterygium syndrome) - CHRNG (11.21)
| cofilin 2 (muscle) | | * Nemaline myopathy - NEM7 (3.8)
| connexin 40 | | * atrial fibrillation, familial, 1 - ATFB1 (10.109, 10.110)
| contactin-1 | | * congenital lethal myopathy - (3.33)
| COX15 homolog, cytochrome c oxidase assembly protein (yeast) | | * Cardiomyopathy, hypertrophic, early-onset fatal - (10.17)
| crystallin, alpha B | | * Dilated cardiomyopathy, with alpha-crystallin defect - (5.1, 10.51)
* Myofibrillar myopathy, alpha-B crystallin related - (5.1, 10.51)
* Myopathy, myofibrillar, 2 - MFM2 (5.1, 10.51)
| CTD phosphatase subunit 1 | | * congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.66)
| Cysteine and glycine-rich protein 3 (cardiac LIM protein) | | * Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.39)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.39)
| cytochrome P450, family 7, subfamily B, polypeptide 1 | | * Spastic paraplegia 5A - SPG5A (15.19)
|
