Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Calcium channel, voltage-dependent, beta 2 subunit
CACNB2 (10p12)


* brugada syndrome 4 - (10.137)
Calcium channel, voltage-dependent, beta 4 subunit
CACNB4 (2q22-q23)


* episodic ataxia type 5, included - EA5 (13.42)
Calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1C (12p13.3)


* Timothy syndrome - LQT8 (10.109, 10.136)
* brugada syndrome 3 - (10.109, 10.136)
Calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA1S (1q32)


* Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.45, 7.8, 8.5)
* Hypokalemic periodic paralysis - CACNL1A3 (3.45, 7.8, 8.5)
* Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.45, 7.8, 8.5)
* Malignant hyperthermia susceptibility 5 - MHS5 (3.45, 7.8, 8.5)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1A (19p13.2-p13.1)


* Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.40, 13.45)
* Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.40, 13.45)
* Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.40, 13.45)
* Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.40, 13.45)
calcium voltage-gated channel subunit alpha1 G
CACNA1G (17q21.33)


* Spinocerebellar ataxia 42 - SCA42 (13.38)
Calpain 1
CAPN1 (11q13.1)


* Spastic paraplegia 76, autosomal recessive - SPG76 (15.59)
Calpain 3
CAPN3 (15q15.1-q21.1)


* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.21)
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
CASQ1 (1q21)


* Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (16.30)
Calsequestrin 2 (cardiac muscle)
CASQ2 (1p13.3-p11)


* ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.92)
Cardiac myosin binding protein-C
MYBPC3 (11p11.2)


* Dilated cardiomyopathy related to MYBPC3 - (3.41, 10.4, 10.55)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.41, 10.4, 10.55)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.41, 10.4, 10.55)
* Cardimyopathy, dilated, 1A - CMD1A (3.41, 10.4, 10.55)
Carnitine palmitoyltransferase II(M)
CPT2 (1p32)


* Myopathy due to CPT II deficiency - CPT2 (9.16)
* CPT deficiency, hepatic, type II - CPT2 (9.16)
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.16)
Carnitine-acylcarnitine translocase(M)
SLC25A20 (3p21.31)


* Carnitine-acylcarnitine translocase deficiency - CACT (9.18)
Catenin alpha 3
CTNNA3 (10q21.3)


* Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.90)
Caveolin 3
CAV3 (3p25)


* Distal myopathy related to caveolin - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Long QT syndrome 9 - LQT9 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Hyperckemia, idiopathic - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Creatine phosphokinase, elevated serum - CPK (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* cardiomyopathy, familial hypertrophic - CMH (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Rippling muscle disease - RMD2 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Cellular nucleic acid-binding protein
CNBP (3q21.3)


* Proximal myotonic myopathy - PROMM (6.2)
* Myotonic dystrophy, type 2 - DM2 (6.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)
CLN3 (16p11.2)


* Autophagic vacuolar myopathy - (5.14)
chaperonin containing TCP1 subunit 5
CCT5 (5p15.2)


* Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.100)
Charged multivesicular body protein 2B
CHMP2B (3p11.2)


* Amyotrophic lateral sclerosis 17 - ALS17 (12.55)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
CLCN1 (7q35)


* 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
CHAT (10q11.2)


* 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
CHKB (22q13)


* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.42)
Cholinergic receptor, nicotinic, alpha polypeptide 1
CHRNA1 (2q24-q32)


* 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
CHRNB1 (17p13.1)


* Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8)
* Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
Cholinergic receptor, nicotinic, delta
CHRND (2q33-q34)


* 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
CHRNE (17p13-p12)


* 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
CHRNG (2q33-q34)


* Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.21)
chromosome 10 open reading frame 2(M)
C10orf2 (10q24.31)


* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.49, 16.18)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.49, 16.18)
chromosome 19 open reading frame 12(M)
C19orf12 (19q12)


* Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.38)
* Spastic paraplegia 43, autosomal recessive - SPG43 (15.38)
Chromosome 9 open reading frame 72
C9orf72 (9p21.2)


* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.62)
Cofilin 2 (muscle)
CFL2 (14q12)


* Nemaline myopathy - NEM7 (3.7)
Coiled-coil domain containing 88C
CCDC88C (14q32.11)


* Spinocerebellar ataxia 40 - SCA40 (13.36)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
CHCHD10 (22q11.2-q13.2)


* Mitochondrial myopathy - (12.32, 12.63, 16.29)
* late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.32, 12.63, 16.29)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.32, 12.63, 16.29)
collagen type XII alpha 1 chain
COL12A1 (6q13-q14)


* 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
COL13A1 (10q22.1)


* Congenital myasthenic syndrome type 19 - CMS19 (11.29)
Connexin 40
GJA5 (1q21.1)


* atrial fibrillation, familial, 1 - ATFB1 (10.129, 10.130)
Contactin-1
CNTN1 (12q11-q12)


* congenital lethal myopathy - (3.42)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
COX15 (10q24)


* Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.27)
Crystallin, alpha B
CRYAB (11q22.3-q23.1)


* Dilated cardiomyopathy related to alpha-crystallin - (5.1, 10.54)
* Myofibrillar myopathy, alpha-B crystallin related - (5.1, 10.54)
* Myopathy, myofibrillar, 2 - MFM2 (5.1, 10.54)
CTD phosphatase subunit 1
CTDP1 (18q23)


* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.98)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
CSRP3 (11p15.1)


* Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.42)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.42)
Cytochrome c oxidase subunit VIa polypeptide 1(M)
COX6A1 (12q24.31)


* CMT recessive intermediate D - CMTRID (14.74)
cytochrome P450, family 2, subfamily U, polypeptide 1
CYP2U1 (4q25)


* Spastic paraplegia 56, autosomal recessive - SPG56 (15.51)
Cytochrome P450, family 7, subfamily B, polypeptide 1
CYP7B1 (8p12-q13)


* Spastic paraplegia 5A - SPG5A (15.19)
Cytotoxic granuleassociated RNA binding protein
TIA1 (2p13)


* Welander distal myopathy - WDM (4.7)