Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
C12orf65Chomosome 12 open reading frame 65(M)     | 12q24.31 | * Spastic paraplegia 55, autosomal recessive - SPG55 (15.55)
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C19orf12Chromosome 19 open reading frame 12(M)     | 19q12 | * Spastic paraplegia 43, autosomal recessive - SPG43 (15.43)
* Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.43)
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C9orf72Chromosome 9 open reading frame 72     | 9p21.2 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.117, 12.85) * Spinobulbar muscular atrophy (SBMA)
- (12.117, 12.85)
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CA8Carbonic anhydrase VIII     | 8q12.1 | * Spinocerebellar ataxia, autosomal recessive 34 - SCAR34 (13.30, 13.93)
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CACNA1ACalcium channel, voltage-dependent, P/Q type, alpha 1A subunit     | 19p13.13 | * Spinocerebellar ataxia 6 - SCA6 (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)
* Cerebellar ataxia, pure - CACNA1A (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)
* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.48, 13.54)
|
CACNA1CCalcium channel, voltage-dependent, L type, alpha 1C subunit     | 12p13.33 | * brugada syndrome 3 - BRGDA3 (10.143, 10.179)
* Timothy syndrome - LQT8 (10.143, 10.179)
|
CACNA1Gcalcium voltage-gated channel subunit alpha1 G     | 17q21.33 | * Spinocerebellar ataxia 42 - SCA42 (13.37, 13.38)
* Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.37, 13.38)
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CACNA1HCalcium channel, voltage-dependent, T type, aplpha-1H subunit     | 16p13.3 | * Congenital amyotrophy - (3.63)
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CACNA1SCalcium channel, voltage-dependent, L type, alpha 1S subunit     | 1q32 | * Hypokalemic periodic paralysis - CACNL1A3 (1.23, 3.44, 3.57, 7.8, 8.5) * Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.23, 3.44, 3.57, 7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (1.23, 3.44, 3.57, 7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (1.23, 3.44, 3.57, 7.8, 8.5)
|
CACNB2Calcium channel, voltage-dependent, beta 2 subunit     | 10p12.33-p12.31 | * brugada syndrome 4 - BRGDA4 (10.180)
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CACNB4Calcium channel, voltage-dependent, beta 4 subunit     | 2q22-q23 | * episodic ataxia type 5, included - EA5 (13.50)
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CADM3Cell adhesion molecule 3     | 1q23.2 | * Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.70)
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| 14q32.11 | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.131, 10.149)
* Long QT syndrome 14 - LQT14 (10.131, 10.149)
|
| 2p21 | * Long QT syndrome 15 - LQT15 (10.150)
|
| 19q13.32 | * Long QT syndrome 16 - LQT16 (10.133, 10.151)
* Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.133, 10.151)
|
| 19p13.11 | * Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
|
CAP2Cyclase associated actin cytoskeltin regulatory protein 2     | 6p22.3 | * Dilated cardiomyopathy, 2I - CMD2I (10.88)
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| 11q13.1 | * Spastic paraplegia 76, autosomal recessive - SPG76 (12.22, 15.66) * Spinal Muscular Atrophy type IV related to CAPN1 - (12.22, 15.66)
|
| 15q15.1-q21.1 | * LGMDD4 - (1.19, 1.24)
* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19, 1.24)
|
CASQ1Calsequestrin 1 (fast-twitch, skeletal muscle)(M)     | 1q21 | * Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.43)
|
CASQ2Calsequestrin 2 (cardiac muscle)      | 1p13.1 | * ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.129)
|
| 3p25.3 | * Myopathy distal, Tateyama type - MPDT (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* cardiomyopathy, familial hypertrophic - CMH (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Creatine phosphokinase, elevated serum - CPK (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Rippling muscle disease - RMD2 (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16) * Long QT syndrome 9 - LQT9 (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Hyperckemia, idiopathic - (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
|
CAVIN1Caveolae-associated protein 1(M)     | 17q21-q2 | * lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
|
CCDC78Coiled-coil domain-containing protein 78     | 16p13.3 | * Centronuclear myopathy 4 - CNM4 (3.20)
|
CCDC88CCoiled-coil domain containing 88C     | 14q32.11 | * Spinocerebellar ataxia 40 - SCA40 (13.35)
|
CCT5Chaperonin containing TCP1 subunit 5     | 5p15.2 | * Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.133)
|
| 18q12.1 | * Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.127)
|
CFAP276Cilia- and flagella-associated protein 276    | 1p21.2-p13.3 | * Charcot-Marie Tooth disease, intermediate - (14.21)
|
| 14q12 | * Nemaline myopathy - NEM7 (3.9)
|
CHATCholine acetyltransferase isoform     | 10q11.2 | * 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)
|
CHCHD10Coiled-coil-helix-coiled-coil-helix domain containing 10(M)     | 22q11.2-q13.2 | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.45, 12.86, 16.24)
* late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.45, 12.86, 16.24)
|
CHD8Chromodomain Helicase DNA-Binding Protein 8     | 14q11.2 | * Congenital myasthenic syndrome - (11.42)
|
| 22q13 | * Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.44)
|
CHMP2BCharged multivesicular body protein 2B      | 3p11.2 | * Amyotrophic lateral sclerosis 17 - ALS17 (12.70)
|
CHP1Calcineurin-like EF-hand protein 1    | 15q15.1 | * Spastic ataxia 9, autosomal recessive - SPAX9 (15.98)
|
CHRNA1Cholinergic receptor, nicotinic, alpha polypeptide 1     | 2q24-q32 | * Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5, 11.43)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5, 11.43) * Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency - (11.1, 11.5, 11.43)
* Myasthenic syndrome, congenital, 1B, Fast-channel - CMS1B (11.1, 11.5, 11.43)
* Myasthenic syndrome, congenital, 1A, Slow-channel - CMS1A (11.1, 11.5, 11.43)
|
CHRNB1Cholinergic receptor, nicotinic, beta 1 muscle     | 17p13.1 | * Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9) * Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9)
* Myasthenic syndrome, congenital, 2A, Slow-channel - CMS2A (11.2, 11.6, 11.9)
|
CHRNDCholinergic receptor, nicotinic, delta     | 2q33-q34 | * 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)
|
CHRNECholinergic receptor, nicotinic, epsilon     | 17p13-p12 | * Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11)
* Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11)
* Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency - CMS4C (11.4, 11.8, 11.11)
|
CHRNGCholinergic receptor, nicotinic, gamma polypeptide     | 2q33-q34 | * Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
|
CIAO1WD40 repeat-containing protein CIAO1     | 2q11.2 | * Multiple mitochondrial dysfunctions syndrome 10 - MMDS10 (16.37)
|
CLCN1Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)     | 7q35 | * Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2)
* 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)
|
CLN3Ceroid-lipofuscinosis, neuronal 3 (=battenin)     | 16p11.2 | * Autophagic vacuolar myopathy - CLN3 (5.20)
|
CLTCL1Clathrin, heavy polypeptide-like 1     | 22q11.21 | * Absence of pain, Congenital - (14.120)
|
CNBPCellular nucleic acid-binding protein     | 3q21.3 | * Proximal myotonic myopathy - PROMM (6.2)
* Myotonic dystrophy, type 2 - DM2 (6.2)
|
| 12q11-q12 | * Congenital myopathy 12 - CMYP12 (3.41)
|
CNTNAP1Contactin-Associated Protein 1     | 17q21.2 | * Lethal congenital contracture syndrome 7 - LCCS7 (12.96, 14.36) * Charcot-Marie Tooth disease related to CNTNAP1 - (12.96, 14.36)
|
COA7Cytochrome C oxidase assembly factor 7    | 1p32.3 | * Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.96)
|
COL12A1Collagen type XII alpha 1 chain     | 6q13-q14 | * Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)
* Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11) * COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
|
COL13A1Collagen type XIII alpha 1 chain     | 10q22.1 | * Congenital myasthenic syndrome type 19 - CMS19 (11.27)
|
COL25A1Collagen, type XXV, alpha-1     | 4q25 | * Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (17.8)
|
COL6A1Alpha 1 type VI collagen     | 21q22.3 | * Bethlem myopathy - (2.2, 2.6)
* Ullrich congenital muscular dystrophy - UCMD1 (2.2, 2.6)
* LGMDR22 - (2.2, 2.6)
* LGMDD5 - (2.2, 2.6)
|
COL6A2Alpha 2 type VI collagen     | 21q22.3 | * myosclerosis, autosomal recessive - (2.3, 2.4, 2.5, 2.7, 2.12)
* LGMDR22 - (2.3, 2.4, 2.5, 2.7, 2.12)
* LGMDD5 - (2.3, 2.4, 2.5, 2.7, 2.12)
* Bethlem myopathy - (2.3, 2.4, 2.5, 2.7, 2.12)
* Ullrich scleroatonic muscular dystrophy - UCMD1 (2.3, 2.4, 2.5, 2.7, 2.12)
|
COL6A3Alpha 3 type VI collagen     | 2q37 | * LGMDR22 - (2.4, 2.8)
* LGMDD5 - (2.4, 2.8)
* Bethlem myopathy - (2.4, 2.8)
* Ullrich congenital muscular dystrophy - UCMD1 (2.4, 2.8)
|
COLQAcetylcholinesterase collagen-like tail subunit     | 3p25 | * Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
* Myasthenic syndrome, congenital, 5 - CMS5 (11.12)
|
| 4q21.23 | * Coenzyme Q10 deficiency 1 - COQ10D1 (17.48)
|
| 9q34.11 | * Coenzyme Q10 deficiency 7 - COQ10D7 (15.99, 17.52)
* Spastic ataxia 10, autosomal recessive - SPAX10 (15.99, 17.52)
|
COQ5Coenzyme Q5 Methyltransferase(M)     | 12q24.31 | * Coenzyme Q10 deficiency - COQ10D9 (13.110)
|
| 14q24.3 | * Coenzyme Q10 deficiency 6 - COQ10D6 (17.51)
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| 16p12.3 | * Coenzyme Q10 deficiency 8 - COQ10D8 (12.13, 17.53)
* Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.13, 17.53)
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| 16q21 | * Coenzyme Q10 deficiency 5 - COQ10D5 (17.50)
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COX15COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)     | 10q24 | * Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.38)
|
COX16Cytochrome c Oxidase Assembly Factor 16     | 14q24.2 | * Mitochondrial complex IV deficiency - MC4DN22 (16.34)
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COX18Cytochrome c Oxidase Assembly Factor COX18(M)     | 4q13.3 | * Sensory-motor neuropathy with oculofacial apraxia - (12.48)
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COX20Cytochrome c Oxidase Assembly Factor COX20     | 1q44 | * Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.114)
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COX6A1Cytochrome c oxidase subunit VIa polypeptide 1(M)     | 12q24.31 | * CMT recessive intermediate D - CMTRID (14.89)
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COX6A2Cytochrome c-oxidase, subunit 6A2(M)     | 16p11.2 | * Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.26)
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CPT1CCarnitine Palmitoyltransferase 1C(M)     | 19q13.33 | * Spastic paraplegia 73, autosomal dominant - SPG73 (15.21)
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CPT2Carnitine palmitoyltransferase II(M)     | 1p32 | * CPT deficiency, hepatic, type II - CPT2 (9.22)
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.22)
* Myopathy due to CPT II deficiency - CPT2 (9.22)
|
CRPPAIsoprenoid synthase domain containing protein    | 7p21.2-p21.1 | * LGMDR20 - LGMDR20 (1.48, 2.25)
* Walker-Warburg syndrome (WWS) - MDDGA7 (1.48, 2.25)
|
| 11q22.3-q23.1 | * Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.72, 14.78)
* Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.72, 14.78)
* Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.72, 14.78) * Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 (5.2, 10.72, 14.78)
|
CSRP3Cysteine and glycine-rich protein 3 (cardiac LIM protein)     | 11p15.1 | * Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.50)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.50)
|
CTDP1CTD phosphatase subunit 1     | 18q23 | * congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.131)
|
| 10q21.3 | * Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.126)
|
CWF19L1CWF19-like Protein 1     | 10q24.31 | * Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.77)
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CYP2U1Cytochrome P450, family 2, subfamily U, polypeptide 1      | 4q25 | * Spastic paraplegia 56, autosomal recessive - SPG56 (15.56)
|
CYP7B1Cytochrome P450, family 7, subfamily B, polypeptide 1     | 8p12-q13 | * Spastic paraplegia 5A - SPG5A (15.24)
|