Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Cadherin 2 | |  * Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.127)
|
Calcineurin-like EF-hand protein 1 | | * Spastic ataxia 9, autosomal recessive - SPAX9 (15.95)
| Calcium channel, voltage-dependent, beta 2 subunit | | * brugada syndrome 4 - BRGDA4 (10.180)
| Calcium channel, voltage-dependent, beta 4 subunit | | * episodic ataxia type 5, included - EA5 (13.50)
| Calcium channel, voltage-dependent, L type, alpha 1C subunit | | * Timothy syndrome - LQT8 (10.143, 10.179)
* brugada syndrome 3 - BRGDA3 (10.143, 10.179)
| Calcium channel, voltage-dependent, L type, alpha 1S subunit | | * Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.24, 3.46, 3.54, 7.8, 8.5)
* Hypokalemic periodic paralysis - CACNL1A3 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (1.24, 3.46, 3.54, 3.54, 7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (1.24, 3.46, 3.54, 3.54, 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, 13.48, 13.54)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.48, 13.54)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.48, 13.54)
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.48, 13.54)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.48, 13.54)
| Calcium channel, voltage-dependent, T type, aplpha-1H subunit | | * Congenital amyotrophy - (5.50)
| calcium voltage-gated channel subunit alpha1 G | | * Spinocerebellar ataxia 42 - SCA42 (13.38, 13.39)
* Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.38, 13.39)
| Calmodulin 1 | | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.131, 10.149)
* Long QT syndrome 14 - LQT14 (10.131, 10.149)
| Calmodulin 2 | | * Long QT syndrome 15 - LQT15 (10.150)
| Calmodulin 3 | | * Long QT syndrome 16 - LQT16 (10.133, 10.151)
* Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.133, 10.151)
| Calpain 1 | | * Spinal Muscular Atrophy type IV related to CAPN1 - (12.10, 15.69)
* Spastic paraplegia 76, autosomal recessive - SPG76 (12.10, 15.69)
| Calpain 3 | | * Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19, 1.25)
* LGMDD4 - (1.19, 1.25)
| Calreticulin 3 | | * Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
| Calsequestrin 1 (fast-twitch, skeletal muscle)(M) | | * Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.44)
| Calsequestrin 2 (cardiac muscle) | | * ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.129)
| Cardiac myosin binding protein-C | | * Dilated cardiomyopathy related to MYBPC3 - (3.53, 10.4, 10.113, 10.77)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.53, 10.4, 10.113, 10.77)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.53, 10.4, 10.113, 10.77)
* Cardimyopathy, dilated, 1A - CMD1A (3.53, 10.4, 10.113, 10.77)
* Left ventricular noncompaction 10 - LVNC10 (3.53, 10.4, 10.113, 10.77)
| Carnitine Palmitoyltransferase 1C(M) | | * Spastic paraplegia 73, autosomal dominant - SPG73 (15.22)
| Carnitine palmitoyltransferase II(M) | | * Myopathy due to CPT II deficiency - CPT2 (9.18)
* CPT deficiency, hepatic, type II - CPT2 (9.18)
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18)
| Carnitine-acylcarnitine translocase(M) | | * Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
| Catenin alpha 3 | | * Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.126)
| Caveolae-associated protein 1(M) | | * lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
| Caveolin 3 | | * Long QT syndrome 9 - LQT9 (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Hyperckemia, idiopathic - (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Creatine phosphokinase, elevated serum - CPK (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* cardiomyopathy, familial hypertrophic - CMH (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Rippling muscle disease - RMD2 (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
* Myopathy distal, Tateyama type - MPDT (1.23, 4.12, 5.30, 6.6, 6.7, 10.144, 10.16)
| Cell adhesion molecule 3 | | * Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.77)
| Cellular nucleic acid-binding protein | | * Proximal myotonic myopathy - PROMM (6.2)
* Myotonic dystrophy, type 2 - DM2 (6.2)
| Ceroid-lipofuscinosis, neuronal 3 (=battenin) | | * Autophagic vacuolar myopathy - CLN3 (5.20)
| Chaperonin containing TCP1 subunit 5 | | * Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.136)
| Charged multivesicular body protein 2B | | * Amyotrophic lateral sclerosis 17 - ALS17 (12.68)
| 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 (11.13)
* Myasthenia gravis, familial infantile - FIMG (11.13)
* Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.13)
* Myasthenia gravis, familial infantile, 2 - FIMG2 (11.13)
* Myasthenic syndrome, congenital, 6, presynaptic - CMS6 (11.13)
| Choline kinase beta | | * Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.44)
| Cholinergic receptor, nicotinic, alpha polypeptide 1 | | * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (11.1, 11.5, 11.43)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5, 11.43)
* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A (11.1, 11.5, 11.43)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5, 11.43)
* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B (11.1, 11.5, 11.43)
| Cholinergic receptor, nicotinic, beta 1 muscle | | * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9)
* Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9)
* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A (11.2, 11.6, 11.9)
| Cholinergic receptor, nicotinic, delta | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.7, 11.10)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.7, 11.10)
* Myasthenic syndrome, congenital, 3B, Fast-channel - CMS3B (11.3, 11.7, 11.10)
| Cholinergic receptor, nicotinic, epsilon | | * Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11)
* Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11)
* Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C (11.4, 11.8, 11.11)
| Cholinergic receptor, nicotinic, gamma polypeptide | | * Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
| Chomosome 12 open reading frame 65(M) | | * Spastic paraplegia 55, autosomal recessive - SPG55 (15.58)
| Chromodomain Helicase DNA-Binding Protein 8 | | * Congenital myasthenic syndrome - (11.42)
| Chromosome 19 open reading frame 12(M) | | * Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.46)
* Spastic paraplegia 43, autosomal recessive - SPG43 (15.46)
| Chromosome 9 open reading frame 72 | | * Spinobulbar muscular atrophy (SBMA)
- (12.113, 12.81)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.113, 12.81)
| Cilia- and flagella-associated protein 276 | | * Charcot-Marie Tooth disease, intermediate - (14.22)
| Clathrin, heavy polypeptide-like 1 | | * Absence of pain, Congenital - (14.123)
| Coenzyme Q2(M) | | * Coenzyme Q10 deficiency 1 - COQ10D1 (16.74)
| Coenzyme Q4(M) | | * Coenzyme Q10 deficiency 7 - COQ10D7 (16.78)
| Coenzyme Q5 Methyltransferase(M) | | * Coenzyme Q10 deficiency - COQ10D9 (13.110)
| Coenzyme Q6(M) | | * Coenzyme Q10 deficiency 6 - COQ10D6 (16.77)
| Coenzyme Q7(M) | | * Coenzyme Q10 deficiency 8 - COQ10D8 (12.21, 16.79)
* Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.21, 16.79)
| Coenzyme Q8A | | * spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.69, 16.75)
* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.69, 16.75)
| Coenzyme Q9(M) | | * Coenzyme Q10 deficiency 5 - COQ10D5 (16.76)
| Cofilin 2 (muscle) | | * Nemaline myopathy - NEM7 (3.10)
| Coiled-coil domain containing 88C | | * Spinocerebellar ataxia 40 - SCA40 (13.36)
| Coiled-coil domain-containing protein 78 | | * Centronuclear myopathy 4 - CNM4 (3.21)
| Coiled-coil-helix-coiled-coil-helix domain containing 10(M) | | * late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.44, 12.82, 16.63)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.44, 12.82, 16.63)
| Collagen type XII alpha 1 chain | | * COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
* Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)
* Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11)
| Collagen type XIII alpha 1 chain | | * Congenital myasthenic syndrome type 19 - CMS19 (11.27)
| Collagen, type XXV, alpha-1 | | * Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
| Connexin 40 | | * atrial fibrillation, familial, 1 - ATFB1 (10.168, 10.176)
| Contactin-1 | | * Congenital myopathy 12 - CMYP12 (3.40)
| Contactin-Associated Protein 1 | | * Charcot-Marie Tooth disease related to CNTNAP1 - (12.93, 14.42)
* Lethal congenital contracture syndrome 7 - LCCS7 (12.93, 14.42)
| COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M) | | * Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.39)
| Crystallin, alpha B | | * Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.73, 14.85)
* Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 (5.2, 10.73, 14.85)
* Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.73, 14.85)
* Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.73, 14.85)
| CTD phosphatase subunit 1 | | * congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.134)
| CWF19-like Protein 1 | | * Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.77)
| Cyclase associated actin cytoskeltin regulatory protein 2 | | * Dilated cardiomyopathy, 2I - CMD2I (10.90)
| Cysteine and glycine-rich protein 3 (cardiac LIM protein) | | * Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.51)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.51)
| Cytochrome c Oxidase Assembly Factor 16 | | * Mitochondrial complex IV deficiency - MC4DN22 (16.87)
| Cytochrome C oxidase assembly factor 7 | | * Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.96)
| Cytochrome c Oxidase Assembly Factor COX20 | | * Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.111)
| Cytochrome c oxidase assembly protein(M) | | * Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.38, 14.99)
* Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.38, 14.99)
| Cytochrome c oxidase subunit VIa polypeptide 1(M) | | * CMT recessive intermediate D - CMTRID (14.26)
| Cytochrome c-oxidase, subunit 6A2(M) | | * Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.70)
| Cytochrome P450, family 2, subfamily U, polypeptide 1 | | * Spastic paraplegia 56, autosomal recessive - SPG56 (15.59)
| Cytochrome P450, family 7, subfamily B, polypeptide 1 | | * Spastic paraplegia 5A - SPG5A (15.27)
| Cytotoxic granuleassociated RNA binding protein | | * Welander distal myopathy - WDM (4.14, 4.15)
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