Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Cadherin 2
CDH2 (18q12.1)


* Arrhythmogenic right ventricular dysplasia, familial, 14 - ARVD14 (10.127)
Calcineurin-like EF-hand protein 1
CHP1 (15q15.1)

* Spastic ataxia 9, autosomal recessive - SPAX9 (15.98)
Calcium channel, voltage-dependent, beta 2 subunit
CACNB2 (10p12.33-p12.31 )


* brugada syndrome 4 - BRGDA4 (10.180)
Calcium channel, voltage-dependent, beta 4 subunit
CACNB4 (2q22-q23)


* episodic ataxia type 5, included - EA5 (13.50)
Calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1C (12p13.33)


* Timothy syndrome - LQT8 (10.143, 10.179)
* brugada syndrome 3 - BRGDA3 (10.143, 10.179)
Calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA1S (1q32)


* Congenital myopathy with ophthalmoplegia related to CACNA1S - (1.23, 3.44, 3.57, 7.8, 8.5)
* Hypokalemic periodic paralysis - CACNL1A3 (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)
* Malignant hyperthermia susceptibility 5 - MHS5 (1.23, 3.44, 3.57, 7.8, 8.5)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1A (19p13.13)


* 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
CACNA1H (16p13.3)


* Congenital amyotrophy - (3.63)
calcium voltage-gated channel subunit alpha1 G
CACNA1G (17q21.33)


* Spinocerebellar ataxia 42 - SCA42 (13.37, 13.38)
* Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.37, 13.38)
Calmodulin 1
CALM1 (14q32.11)


* Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.131, 10.149)
* Long QT syndrome 14 - LQT14 (10.131, 10.149)
Calmodulin 2
CALM2 (2p21)


* Long QT syndrome 15 - LQT15 (10.150)
Calmodulin 3
CALM3 (19q13.32)


* Long QT syndrome 16 - LQT16 (10.133, 10.151)
* Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.133, 10.151)
Calpain 1
CAPN1 (11q13.1)


* Spinal Muscular Atrophy type IV related to CAPN1 - (12.22, 15.66)
* Spastic paraplegia 76, autosomal recessive - SPG76 (12.22, 15.66)
Calpain 3
CAPN3 (15q15.1-q21.1)


* Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.19, 1.24)
* LGMDD4 - (1.19, 1.24)
Calreticulin 3
CALR3 (19p13.11)


* Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
CASQ1 (1q21)


* Vacuolar myopathy with CASQ1 aggregates - VMCQA (5.43)
Calsequestrin 2 (cardiac muscle)
CASQ2 (1p13.1)


* ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.129)
Carbonic anhydrase VIII
CA8 (8q12.1)


* Spinocerebellar ataxia, autosomal recessive 34 - SCAR34 (13.30, 13.93)
Cardiac myosin binding protein-C
MYBPC3 (11p11.2)


* Dilated cardiomyopathy related to MYBPC3 - (3.40, 10.4, 10.113, 10.76)
* congenital skeletal myopathy and fatal cardiomyopathy - (3.40, 10.4, 10.113, 10.76)
* Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.40, 10.4, 10.113, 10.76)
* Cardimyopathy, dilated, 1A - CMD1A (3.40, 10.4, 10.113, 10.76)
* Left ventricular noncompaction 10 - LVNC10 (3.40, 10.4, 10.113, 10.76)
Carnitine Palmitoyltransferase 1C(M)
CPT1C (19q13.33)


* Spastic paraplegia 73, autosomal dominant - SPG73 (15.21)
Carnitine palmitoyltransferase II(M)
CPT2 (1p32)


* Myopathy due to CPT II deficiency - CPT2 (9.22)
* CPT deficiency, hepatic, type II - CPT2 (9.22)
* Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.22)
Carnitine-acylcarnitine translocase(M)
SLC25A20 (3p21.31)


* Carnitine-acylcarnitine translocase deficiency - CACT (9.24)
Catenin alpha 3
CTNNA3 (10q21.3)


* Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.126)
Caveolae-associated protein 1(M)
CAVIN1 (17q21-q2)


* lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
Caveolin 3
CAV3 (3p25.3)


* Long QT syndrome 9 - LQT9 (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)
* 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)
* cardiomyopathy, familial hypertrophic - CMH (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)
* Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
* Myopathy distal, Tateyama type - MPDT (1.20, 4.12, 5.32, 6.6, 6.7, 10.144, 10.16)
Cell adhesion molecule 3
CADM3 (1q23.2)


* Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.70)
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 - CLN3 (5.20)
Chaperonin containing TCP1 subunit 5
CCT5 (5p15.2)


* Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.133)
Charged multivesicular body protein 2B
CHMP2B (3p11.2)


* Amyotrophic lateral sclerosis 17 - ALS17 (12.70)
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 (11.13)
* 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
CHKB (22q13)


* Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.44)
Cholinergic receptor, nicotinic, alpha polypeptide 1
CHRNA1 (2q24-q32)


* 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
CHRNB1 (17p13.1)


* 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
CHRND (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)
Cholinergic receptor, nicotinic, epsilon
CHRNE (17p13-p12)


* 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
CHRNG (2q33-q34)


* Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
Chomosome 12 open reading frame 65(M)
C12orf65 (12q24.31)


* Spastic paraplegia 55, autosomal recessive - SPG55 (15.55)
Chromodomain Helicase DNA-Binding Protein 8
CHD8 (14q11.2)


* Congenital myasthenic syndrome - (11.42)
Chromosome 19 open reading frame 12(M)
C19orf12 (19q12)


* Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.43)
* Spastic paraplegia 43, autosomal recessive - SPG43 (15.43)
Chromosome 9 open reading frame 72
C9orf72 (9p21.2)


* Spinobulbar muscular atrophy (SBMA) - (12.117, 12.85)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.117, 12.85)
Cilia- and flagella-associated protein 276
CFAP276 (1p21.2-p13.3)

* Charcot-Marie Tooth disease, intermediate - (14.21)
Clathrin, heavy polypeptide-like 1
CLTCL1 (22q11.21)


* Absence of pain, Congenital - (14.120)
Coenzyme Q2(M)
COQ2 (4q21.23)


* Coenzyme Q10 deficiency 1 - COQ10D1 (17.48)
Coenzyme Q4(M)
COQ4 (9q34.11)


* Coenzyme Q10 deficiency 7 - COQ10D7 (15.99, 17.52)
* Spastic ataxia 10, autosomal recessive - SPAX10 (15.99, 17.52)
Coenzyme Q5 Methyltransferase(M)
COQ5 (12q24.31)


* Coenzyme Q10 deficiency - COQ10D9 (13.110)
Coenzyme Q6(M)
COQ6 (14q24.3)


* Coenzyme Q10 deficiency 6 - COQ10D6 (17.51)
Coenzyme Q7(M)
COQ7 (16p12.3)


* Coenzyme Q10 deficiency 8 - COQ10D8 (12.13, 17.53)
* Neuropathy, distal hereditary motor, autosomal recessive 9 - HMNR9 (12.13, 17.53)
Coenzyme Q8A
ADCK3 (1q42.13)


* spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.69, 17.49)
* Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.69, 17.49)
Coenzyme Q9(M)
COQ9 (16q21)


* Coenzyme Q10 deficiency 5 - COQ10D5 (17.50)
Cofilin 2 (muscle)
CFL2 (14q12)


* Nemaline myopathy - NEM7 (3.9)
Coiled-coil domain containing 88C
CCDC88C (14q32.11)


* Spinocerebellar ataxia 40 - SCA40 (13.35)
Coiled-coil domain-containing protein 78
CCDC78 (16p13.3)


* Centronuclear myopathy 4 - CNM4 (3.20)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
CHCHD10 (22q11.2-q13.2)


* late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.45, 12.86, 16.24)
* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.45, 12.86, 16.24)
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 (11.27)
Collagen, type XXV, alpha-1
COL25A1 (4q25)


* Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (17.8)
Connexin 40
GJA5 (1q21.1)


* atrial fibrillation, familial, 1 - ATFB1 (10.168, 10.176)
Contactin-1
CNTN1 (12q11-q12)


* Congenital myopathy 12 - CMYP12 (3.41)
Contactin-Associated Protein 1
CNTNAP1 (17q21.2)


* Charcot-Marie Tooth disease related to CNTNAP1 - (12.96, 14.36)
* Lethal congenital contracture syndrome 7 - LCCS7 (12.96, 14.36)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
COX15 (10q24)


* Mitochondrial complex IV deficiency, nuclear type 6 - MC4DN6 (CEMCOX2) (10.38)
Crystallin, alpha B
CRYAB (11q22.3-q23.1)


* Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.72, 14.78)
* Charcot-Marie-Tooth disease, axonal, related to CRYAB - CMT2 (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)
CTD phosphatase subunit 1
CTDP1 (18q23)


* congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.131)
CWF19-like Protein 1
CWF19L1 (10q24.31)


* Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.77)
Cyclase associated actin cytoskeltin regulatory protein 2
CAP2 (6p22.3)


* Dilated cardiomyopathy, 2I - CMD2I (10.88)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)
CSRP3 (11p15.1)


* Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.50)
* Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.50)
Cytochrome c Oxidase Assembly Factor 16
COX16 (14q24.2)


* Mitochondrial complex IV deficiency - MC4DN22 (16.34)
Cytochrome C oxidase assembly factor 7
COA7 (1p32.3)

* Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.96)
Cytochrome c Oxidase Assembly Factor COX18(M)
COX18 (4q13.3)


* Sensory-motor neuropathy with oculofacial apraxia - (12.48)
Cytochrome c Oxidase Assembly Factor COX20
COX20 (1q44)


* Mitochondrial complex IV deficiency, nuclear type 11 - MC4DN11 (12.114)
Cytochrome c oxidase assembly protein(M)
SCO2 (22q13.33)


* Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.37, 14.96)
* Mitochondrial complex IV deficiency, nuclear type 2 - MC4DN2 (CEMCOX1) (10.37, 14.96)
Cytochrome c oxidase subunit VIa polypeptide 1(M)
COX6A1 (12q24.31)


* CMT recessive intermediate D - CMTRID (14.89)
Cytochrome c-oxidase, subunit 6A2(M)
COX6A2 (16p11.2)


* Mitochondrial complex IV deficiency, nuclear type 18 - MC4DN18 (16.26)
Cytochrome P450, family 2, subfamily U, polypeptide 1
CYP2U1 (4q25)


* Spastic paraplegia 56, autosomal recessive - SPG56 (15.56)
Cytochrome P450, family 7, subfamily B, polypeptide 1
CYP7B1 (8p12-q13)


* Spastic paraplegia 5A - SPG5A (15.24)
Cytotoxic granuleassociated RNA binding protein
TIA1 (2p13)


* Welander distal myopathy - WDM (4.14, 4.15, 12.79)