Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
1
78 kb Chro8 insertion
78 kb inter-chromosomal insertion (from chro 8q24.3)


Xq26
charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3 (14.36)
2
AARS
Alanyl-tRNA synthetase



16q22.1
Dominant distal hereditary motor neuropathy - (12.24, 14.56)
Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.24, 14.56)
3
AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
4
ABCC9
ATP-binding cassette, sub-family C (member 9)



16p13.1
Cardiomyopathy, dilated, 1O - CMD1O (10.154, 10.50)
Atrial fibrillation , 12 - ATFB12 (10.154, 10.50)
5
ABHD5
Abhydrolase domain containing 5



3p25.3-p24.3
Chanarin-Dorfman syndrome - CDS (9.26)
6
ACAD9
Acyl-CoA dehydrogenase family member 9(M)



3q21.3
ACAD9-deficient mild myopathy - (9.25)
7
ACADVL
Acyl-Coenzyme A dehydrogenase, very long chain(M)



17p13
Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
8
ACTA1
Alpha actin, skeletal muscle



1q42.1
myopathy, congenital, with fiber-type disproportion - CFTD (2.45, 3.3, 3.14, 3.41)
Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.45, 3.3, 3.14, 3.41)
Left ventricular noncompaction 4 - LVNC4 (2.45, 3.3, 3.14, 3.41)
Nemaline myopathy 3 - NEM3 (2.45, 3.3, 3.14, 3.41)
9
ACTC1
Actin, alpha, cardiac muscle precursor



15q11-q14
Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.53, 10.95)
Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.53, 10.95)
Asymmetric septal hypertrophy - ASH (10.10, 10.53, 10.95)
10
ACTN2
Actinin alpha2



1q42-q43
Hypertrophic cardiomyopathy related to actinin-2 - (3.54, 10.24, 10.62)
dilated cardiomyopathy, 1aa - CMD1AA (3.54, 10.24, 10.62)
Myopathy congenital related to ACTN2 - (3.54, 10.24, 10.62)
11
ACVR1
Activin A receptor, type II-like kinase 2



2q23-q24
Fibrodysplasia ossificans progressiva - FOP (5.21)
12
ADCK3
Coenzyme Q8A



1q42.13
spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.62, 16.72)
Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.62, 16.72)
13
ADSSL1
Adénylosuccinate synthase-like


14q32-33
Adolescent onset distal myopathy - (4.18)
14
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



18p11-q11
Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
15
AGL
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



1p21
Glycogen storage disease type IIIb - GSD IIIb (9.2)
Glycogen storage disease type IIIa - GSD IIIa (9.2)
Glycogen storage disease type IIId - GSD IIId (9.2)
Glycogen storage disease type IIIc - GSD IIIc (9.2)
16
AGRN
Agrin



1p36.33
Familial limb girdle myasthenia related to agrin - CMS1B (11.14)
17
AHNAK2
Ahnak nucleoprotein 2


14q32
Charcot-Marie Tooth disease - (14.33)
18
AIFM1
Apoptosis-inducing factor, Mitochondria-associated 1(M)



Xq24-q26.1
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.37, 16.63)
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (14.37, 16.63)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.37, 16.63)
Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (14.37, 16.63)
19
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9



7q21.2
Long QT syndrome 11 - LQT11 (10.132)
20
ALDH18A1
Aldehyde deydrogenase 18 family, member A1 (M)



10q24.1
Spastic paraplegia 9 - SPG9A (15.5, 15.25)
Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
21
ALDH3A2
Aldehyde dehydrogenase 3A2



17p11.2
Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.68)
Fatty aldehyde dehydrogenase - FALDH (15.68)
Sjogren-Larsson syndrome - SLS (15.68)
22
ALG13
UDP-N-acetylglucosami-nyltransferase



Xq23
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S
23
ALG14
UDP-N-acetylglucosaminyltransferase



1p21.3
Congenital myasthenic syndrome related to ALG14 - (11.21)
24
ALG2
Alpha-1,3/1,6-mannosyltransferase



9q31.1
Congenital myasthenic syndrome related to ALG2 - (11.20)
25
ALPK3
Alpha kinase 3


15q25.3
Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.28)
26
ALS2
Alsin



2q33.2
Spastic paralysis, infantile onset ascending - IAHSP (12.44, 15.69)
Amyotrophic lateral sclerosis, juvenile - ALS2 (12.44, 15.69)
Primary lateral sclerosis, juvenile - PLSJ (12.44, 15.69)
27
AMPD2
Adenosine monophosphate deaminase 2



1p13.3
Spastic paraplegia 63, autosomal recessive - SPG63 (15.59)
28
ANG
Angiogenin



14q11.2
amyotrophic lateral sclerosis 9 - ALS9 (12.51)
29
ANK2
Ankyrin 2



4q25-26
Long QT syndrome-4 - LQT4 (10.125)
30
ANKRD1
Ankyrin repeat domain 1 (cardiac muscle)



10q23.31
Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.22, 10.77)
Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.22, 10.77)
31
ANO10
Anoctamin 10



3p22.1-p21.3
Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.63)
32
ANO5
Anoctamin 5



11p14-12
Miyoshi muscular dystrophy 3 - MMD3 (1.36, 4.13)
Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.36, 4.13)
33
ANXA11
Annexin A11


10q23.3
Amytrophic lateral sclerosis 23 - ALS23 (12.65)
34
AP4B1
adaptor-related protein complex 4, beta 1 subunit



1p13.2
Spastic paraplegia 47, autosomal recessive - SPG47 (15.46)
35
AP4E1
Adaptor-related protein complex 4, epsilon-1 subunit



15q21.2
Spastic paraplegia 51, autosomal recessive - SPG51 (15.50)
36
AP4M1
Adaptor-related protein complex 4, mu 1 subunit



7q22.1
Spastic paraplegia 50, autosomal recessive - SPG50 (15.49)
37
AP4S1
Adaptor-related protein complex 4, sigma 1 subunit



14q12
Spastic paraplegia 52, autosomal recessive - SPG52 (15.51)
38
AP5Z1
Hypothetical protein LOC9907 ?



7p22.2
Spastic paraplegia 48, autosomal recessive - SPG48 (15.47)
39
APTX
Aprataxin



9p13.3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.55)
40
AR
Androgen receptor



Xq11.2-q12
Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.39)
Kennedy disease - KD (12.39)
41
ARHGEF10
Rho guanine nucleotide exchange factor 10



8p23
Slowed nerve conduction velocity, autosomal dominant - NCV (14.10)
42
ARL6IP1
ADP-ribosylation factor-like 6 interacting protein 1



16p12.3
Spastic paraplegia 61, autosomal recessive - SPG61 (15.57)
43
ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1



8p22
Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.13)
44
ASCC1
Activating signal cointegrator 1 complex subunit 1



10q22.1
Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24)
Arthrogryposis related to ASCC1 - (12.12, 16.24)
45
ATG5
Autophagy 5, S. Cerevisiae, Homolog of


6q21
Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.78)
46
ATL1
Atlastin GTPase 1



14q22.1
Neuropathy, hereditary sensory, type ID - HSN1D (14.102, 15.1)
Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.102, 15.1)
47
ATL3
atlastin GTPase 3



11q13.1
Hereditary sensory neuropathy type IF - HSN IF (14.104)
48
ATM
Ataxia telangiectasia mutated



11q22.3
ataxia telangiectasia - AT (13.86)
49
ATP13A2
ATPase, type 13A2(M)



1q36.13
Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
50
ATP1A1
ATPase, Na+/K+ transporting, alpha-1 polypeptide


1p13.1
Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.66)
51
ATP1A2
ATPase, NA+/K+ transporting alpha-2 polypeptide



1q23.2
Hypokalaemic periodic paralysis - (7.5)
52
ATP2A1
ATPase, Ca++ transporting, fast twitch 1



16p12.1
Brody myopathy - ATP2A1 (6.9)
53
ATP7A
ATPase, Cu++ transporting, alpha polypeptide



Xq13-q21
Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.41)
54
ATXN1
Ataxin 1



6p22.3
Spinocerebellar ataxia 1 - SCA1 (13.1)
Olivopontocerebellar atrophy I - OPCA1 (13.1)
55
ATXN10
Ataxin 10



22q13.31
Spinocerebellar ataxia 10 - SCA10 (13.9)
56
ATXN2
Ataxin 2



12q24.12
Spinocerebellar ataxia 2 - SCA2 (12.55, 13.2)
Olivopontocerebellar atrophy II - OPCA (12.55, 13.2)
Amyotrophic lateral sclerosis 13 - ALS13 (12.55, 13.2)
57
ATXN3
Ataxin 3



14q32.12
Machado-Joseph disease - MJD (13.3)
Spinocerebellar ataxia 3 - SCA3 (13.3)
58
ATXN7
Ataxin 7



3p14
Spinocerebellar ataxia 7 - SCA7 (13.7)
Olivopontocerebellar atrophy III - OPCA3 (13.7)
59
ATXN8OS
Ataxin 8 opposite strand



13q21.33
Spinocerebellar ataxia 8 - SCA8 (13.8)
60
B3GALNT2
Beta-1,3-N-acetylgalacto-saminyltransferase 2



1q42.3
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.37)
61
B4GALNT1
Beta-1,4-N-acetyl-galactosaminyl transferase 1



12q13.3
Spastic paraplegia 26 - SPG26 (15.35)
62
B4GAT1
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1


11q13.2
Walker-Warburg syndrome (WWS) - MDDGA13 (2.26)
63
BAG3
BCL2-associated athanogene 3



10q25.2-q26.2
myofibrillar myopathy with bag3 defect - (5.7, 10.69, 14.71)
Dilated cardiomyopathy related to BAG3 - CMD1HH (5.7, 10.69, 14.71)
Charcot-Marie-Tooth disease, axonal, related to BAG3 - (5.7, 10.69, 14.71)
64
BEAN1
Brain expressed, associated with Nedd42



16q21
spinocerebellar ataxia-31 - SCA31 (13.28)
65
BICD2
Bicaudal D homolog 2 (Drosophila)



9q22.31
Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2A (12.33, 12.34, 16.22)
Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B - SMALED2B (12.33, 12.34, 16.22)
Arthrogryposis and BICD2-related neuromuscular disease - (12.33, 12.34, 16.22)
66
BIN1
Amphiphysin



2q14
Centronuclear myopathy 2 - CNM2 (3.23)
67
BSCL2
Seipin



11q12-q13.5
Neuronopathy, distal hereditary motor, type V - HMN5 (12.22, 15.9)
Spastic paraplegia 17 - SPG17 (12.22, 15.9)
68
BVES
Blood vessel epicardial substance



6q21
Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.51)
69
C12orf65
Chomosome 12 open reading frame 65(M)



12q24.31
Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
70
C19orf12
Chromosome 19 open reading frame 12(M)



19q12
Spastic paraplegia 43, autosomal recessive - SPG43 (15.42)
Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.42)
71
C1orf194
Chromosome 1 open reading frame 194


1p21.2-p13.3
Charcot-Marie Tooth disease, intermediate - (14.19)
72
C9orf72
Chromosome 9 open reading frame 72



9p21.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.71)
73
CACNA1A
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



19p13.13
Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.45, 13.50)
Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.45, 13.50)
Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.45, 13.50)
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.45, 13.50)
Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.45, 13.50)
74
CACNA1C
Calcium channel, voltage-dependent, L type, alpha 1C subunit



12p13.33
brugada syndrome 3 - (10.129, 10.163)
Timothy syndrome - LQT8 (10.129, 10.163)
75
CACNA1G
calcium 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)
76
CACNA1H
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



16p13.3
Congenital amyotrophy - (3.56)
77
CACNA1S
Calcium channel, voltage-dependent, L type, alpha 1S subunit



1q32
Hypokalemic periodic paralysis - CACNL1A3 (3.48, 7.8, 8.5)
Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.48, 7.8, 8.5)
Malignant hyperthermia susceptibility 5 - MHS5 (3.48, 7.8, 8.5)
Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.48, 7.8, 8.5)
78
CACNB2
Calcium channel, voltage-dependent, beta 2 subunit



10p12.33-p12.31
brugada syndrome 4 - (10.164)
79
CACNB4
Calcium channel, voltage-dependent, beta 4 subunit



2q22-q23
episodic ataxia type 5, included - EA5 (13.47)
80
CALM1
Calmodulin 1


14q32.11
Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.118, 10.135)
Long QT syndrome 14 - LQT14 (10.118, 10.135)
81
CALM2
Calmodulin 2


2p21
Long QT syndrome 15 - LQT15 (10.136)
82
CALR3
Calreticulin 3



19p13.11
Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
83
CAPN1
Calpain 1



11q13.1
Spastic paraplegia 76, autosomal recessive - SPG76 (15.64)
84
CAPN3
Calpain 3



15q15.1-q21.1
LGMDD4 - (1.16, 1.25)
Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.16, 1.25)
85
CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.33)
86
CASQ2
Calsequestrin 2 (cardiac muscle)



1p13.1
ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.116)
87
CAV3
Caveolin 3



3p25.3
Distal myopathy related to caveolin - (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
cardiomyopathy, familial hypertrophic - CMH (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Creatine phosphokinase, elevated serum - CPK (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Rippling muscle disease - RMD2 (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Long QT syndrome 9 - LQT9 (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
Hyperckemia, idiopathic - (1.22, 4.11, 5.22, 6.6, 6.7, 10.130, 10.16)
88
CCDC78
Coiled-coil domain-containing protein 78


16p13.3
Centronuclear myopathy 4 - CNM4 (3.27)
89
CCDC88C
Coiled-coil domain containing 88C



14q32.11
Spinocerebellar ataxia 40 - SCA40 (13.35)
90
CCT5
Chaperonin containing TCP1 subunit 5



5p15.2
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.116)
91
CFL2
Cofilin 2 (muscle)



14q12
Nemaline myopathy - NEM7 (3.7)
92
CHAT
Choline acetyltransferase isoform



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)
93
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



22q11.2-q13.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.36, 12.72, 16.61)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.36, 12.72, 16.61)
94
CHKB
Choline kinase beta



22q13
Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.43)
95
CHMP2B
Charged multivesicular body protein 2B



3p11.2
Amyotrophic lateral sclerosis 17 - ALS17 (12.59)
96
CHP1
Calcineurin-like EF-hand protein 1


15q15.1
Spastic ataxia 9, autosomal recessive - SPAX9 (15.83)
97
CHRNA1
Cholinergic receptor, nicotinic, alpha polypeptide 1



2q24-q32
Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5)
Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5)
98
CHRNB1
Cholinergic receptor, nicotinic, beta 1 muscle



17p13.1
Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8)
99
CHRND
Cholinergic receptor, nicotinic, delta



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)
100
CHRNE
Cholinergic receptor, nicotinic, epsilon



17p13-p12
Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.7, 11.10)
Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.7, 11.10)
101
CHRNG
Cholinergic receptor, nicotinic, gamma polypeptide



2q33-q34
Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.33)
102
CLCN1
Chloride 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)
103
CLN3
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



16p11.2
Autophagic vacuolar myopathy - (5.16)
104
CLTCL1
Clathrin, heavy polypeptide-like 1


22q11.21
Absence of pain, Congenital - (14.107)
105
CNBP
Cellular nucleic acid-binding protein



3q21.3
Proximal myotonic myopathy - PROMM (6.2)
Myotonic dystrophy, type 2 - DM2 (6.2)
106
CNTN1
Contactin-1



12q11-q12
Congenital myopathy Compton-North - (3.45)
107
CNTNAP1
Contactin-Associated Protein 1



17q21.2
Lethal congenital contracture syndrome - LCCS7 (16.25)
108
COA7
Cytochrome C oxidase assembly factor 7


1p32.3
Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.83)
109
COL12A1
Collagen 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)
110
COL13A1
Collagen type XIII alpha 1 chain



10q22.1
Congenital myasthenic syndrome type 19 - CMS19 (11.25)
111
COL25A1
Collagen, type XXV, alpha-1


4q25
Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
112
COL6A1
Alpha 1 type VI collagen



21q22.3
Bethlem myopathy - (1.17, 1.46, 2.2, 2.6)
Ullrich congenital muscular dystrophy - UCMD1 (1.17, 1.46, 2.2, 2.6)
LGMDR22 - (1.17, 1.46, 2.2, 2.6)
LGMDD5 - (1.17, 1.46, 2.2, 2.6)
113
COL6A2
Alpha 2 type VI collagen



21q22.3
myosclerosis, autosomal recessive - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
LGMDR22 - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
LGMDD5 - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
Bethlem myopathy - (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
Ullrich scleroatonic muscular dystrophy - UCMD1 (1.18, 1.47, 2.3, 2.5, 2.7, 2.12)
114
COL6A3
Alpha 3 type VI collagen



2q37
LGMDR22 - (1.19, 1.48, 2.4, 2.8)
LGMDD5 - (1.19, 1.48, 2.4, 2.8)
Bethlem myopathy - (1.19, 1.48, 2.4, 2.8)
Ullrich congenital muscular dystrophy - UCMD1 (1.19, 1.48, 2.4, 2.8)
115
COLQ
Acetylcholinesterase collagen-like tail subunit



3p25
Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.11)
116
COQ2
Coenzyme Q2(M)



4q21.23
Coenzyme Q10 deficiency 1 - COQ10D1 (16.71)
117
COQ4
Coenzyme Q4(M)


9q34.11
Coenzyme Q10 deficiency 7 - COQ10D7 (16.75)
118
COQ6
Coenzyme Q6(M)



14q24.3
Coenzyme Q10 deficiency 6 - COQ10D6 (16.74)
119
COQ7
Coenzyme Q7(M)


16p12.3
Coenzyme Q10 deficiency 8 - COQ10D8 (16.76)
120
COQ9
Coenzyme Q9(M)



16q21
Coenzyme Q10 deficiency 5 - COQ10D5 (16.73)
121
COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
122
COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
CMT recessive intermediate D - CMTRID (14.81)
123
COX6A2
Cytochrome c-oxidase, subunit 6A2(M)


16p11.2
Mitochondrial complex IV deficiency - (16.66)
124
CPT1C
Carnitine Palmitoyltransferase 1C


19q13.33
Spastic paraplegia 73, autosomal dominant - SPG73 (15.20)
125
CPT2
Carnitine palmitoyltransferase II(M)



1p32
CPT deficiency, hepatic, type II - CPT2 (9.18)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18)
Myopathy due to CPT II deficiency - CPT2 (9.18)
126
CRYAB
Crystallin, alpha B



11q22.3-q23.1
Dilated cardiomyopathy related to alpha-crystallin - (5.2, 10.70)
Myofibrillar myopathy, alpha-B crystallin related - (5.2, 10.70)
Myopathy, myofibrillar, 2 - MFM2 (5.2, 10.70)
127
CSRP3
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



11p15.1
Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.48)
Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.48)
128
CTDP1
CTD phosphatase subunit 1



18q23
congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.114)
129
CTNNA3
Catenin alpha 3



10q21.3
Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.114)
130
CWF19L1
CWF19-like Protein 1


10q24.31
Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.70)
131
CYP2U1
Cytochrome P450, family 2, subfamily U, polypeptide 1



4q25
Spastic paraplegia 56, autosomal recessive - SPG56 (15.55)
132
CYP7B1
Cytochrome P450, family 7, subfamily B, polypeptide 1



8p12-q13
Spastic paraplegia 5A - SPG5A (15.23)
133
DAG1
Dystroglycan1



3p21
Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.40, 2.35)
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.40, 2.35)
134
DCAF8
DDB1 and CUL4 associated factor 8



1q23.2
Giant axonal neuropathy 2 - GAN2 (14.113)
135
DCTN1
Dynactin 1



2p13
Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.27, 12.70)
Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.27, 12.70)
136
DDHD1
DDHD domain containing 1



14q21
Spastic paraplegia 20 - SPG28 (15.37)
137
DDHD2
DDHD domain containing protein 2



8p11.23
Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)
138
DES
Desmin



2q35
Desmin-related myopathy - DRM (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
Dilated cardiomyopathy, 1I - CMD1I (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
Myofibrillar myopathy 1 - MFM1 (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.23, 1.52, 5.1, 5.13, 10.121, 10.44)
139
DGAT2
Diacylglycerol O-acyltransferase 2



1q13.3
Early onset axonal neuropathy with sensory ataxia - (14.70)
140
DGUOK
Deoxyguanosine kinase(M)



2p13.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.41, 16.45)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.41, 16.45)
141
DHTKD1
Dehydrogenase E1 and transketolase domain containing 1



10p14
Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.59)
142
DMD
Dystrophin



Xp21.2
Duchenne muscular dystrophy - DMD (1.1, 10.81)
Becker muscular distrophy - BMD (1.1, 10.81)
Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.81)
Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.81)
143
DMPK
Myotonic dystrophy protein kinase



19q13.3
Myotonic dystrophy 1 - DM1 (6.1)
Dystrophia myotonica - DM (6.1)
Steinert disease - DM1 (6.1)
144
DNA2
DNA replication helicase 2(M)


10q21.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.37)
145
DNAJB2
DnaJ (Hsp40) homolog, subfamily B, member 2


2q32-q34
Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.76)
Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.76)
Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.76)
146
DNAJB6
HSP-40 homologue, subfamily B, number 6



7q36
LGMDD1 - (1.13, 4.20)
147
DNM2
Dynamin 2



19p13.2
Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.22, 4.14, 14.13)
Myopathy centronuclear, 1 - CNM1 (2.15, 3.22, 4.14, 14.13)
148
DNMT1
DNA (cytosine-5)-methyltransferase 1



19p13.2
Neuropathy, hereditary sensory, type 1E - HSN1E (14.103)
Hereditary sensory neuropathy with dementia and hearing loss - (14.103)
149
DOK7
Docking protein 7



4p16.2
Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.16, 16.27)
Fetal akinesia deformation sequence 3 - FADS3 (11.16, 16.27)
150
DOLK
Dolichol kinase



9q34.13
Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)
151
DPAGT1
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



11q23.3
Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.19)
152
DPM1
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



20q13.13
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.33)
153
DPM2
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



9q34.13
Muscle dystrophy with congenital disorder of glycosylation - (2.34)
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.34)
154
DPM3
Dolichyl-phosphate mannosyltransferase polypeptide 3



1q22
Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.56)
155
DSC2
Desmocollin 2



18q12.1
Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)
156
DSG2
Desmoglein 2



18q12.1
Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)
157
DSP
Desmoplakin



6p24.3
Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)
158
DST
Dystonin



6p12.1
Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.99)
159
DTNA
Dystrobrevin, alpha



18q12
Left ventricular noncompaction, familial isolated - LVNC (10.92)
Left ventricular noncompaction with congenital heart defects - (10.92)
160
DUX4
Double homeobox 4



4q35
Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
161
DYNC1H1
Dynein, cytoplasmic 1, heavy chain 1



14q32.31
Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.32, 14.57)
Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.32, 14.57)
162
DYSF
Dysferlin



2p12-14
Miyoshi myopathy - MM (1.26, 4.1)
Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.26, 4.1)
163
ECEL1
Endothelin-converting enzyme like 1


2q37.1
Arthrogryposis, distal, type 5D - DA5D (16.18)
164
EEF2
Eukaryotic translation elongation factor 2



19p13.3
Spinocerebellar ataxia 26 - SCA26 (13.23)
165
EGR2
Early growth response 2 protein



10q21.1
Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.26, 14.42)
Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.26, 14.42)
Dejerine-Sottas syndrome - DSS (14.4, 14.26, 14.42)
Neuropathy, congenital hypomyelinating - CHN (14.4, 14.26, 14.42)
166
ELOVL4
ELOVL fatty acid elongase 4



6q14.1
Spinocerebellar ataxia 34 - SCA34 (13.30)
167
ELOVL5
ELOVL fatty acid elongase 5



6p12.1
Spinocerebellar ataxia 38 - SCA38 (13.34)
168
ELP1
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein


9q31.3
Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.96, 16.3)
Familial dysautonomia (Riley-Day syndrome) - (14.96, 16.3)
169
EMD
Emerin



Xq28
Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
170
ENO3
Enolase 3, beta muscle specific



17pter-p11
Glycogen storage disease XIII - GSD13 (9.16)
Enolase deficiency - ENO3 (9.16)
171
ENTPD1
Ectonucleoside triphosphate diphosphohydrolase 1



10q24.1
Spastic paraplegia 64, autosomal recessive - SPG64 (15.60)
172
ERBB3
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



12q13
Lethal congenital contracture syndrome 2 - LCCS2 (12.76)
173
ERBB4
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4


2q34
Amyotrophic lateral sclerosis 19 - ALS19 (12.61)
174
ERLIN1
Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)



10q24.31
Spastic paraplegia 62 autosomal recessive - SPG62 (15.58)
175
ERLIN2
ER lipid raft associated 2



8p12-p11.21
Spastic paraplegia 18 - SPG18 (15.29)
176
ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
177
ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
178
ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)
179
EXOSC3
Exosome component 3



9p13.2
Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.78)
180
EXOSC8
Exosome component 8



13q13.1
Spinal muscular atrophy and cerebellar hypoplasia - (12.14)
181
EYA4
Eyes absent 4



6q23-24
Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.45)
Cardiomyopathy, dilated, 1J - CMD1J (10.45)
182
FA2H
Fatty acid 2-hydroxylase



16q21-q23.1
Spastic paraplegia 35, autosomal recessive - SPG35 (15.40)
Dysmyelinating leukodystrophy - FAHN (15.40)
183
FAM111B
Family with sequence similarity 111 member B



11q12.1
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.62)
184
FARS2
Phenylalanine-tRNA synthetase 2(M)



6p25.1
Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
185
FASTKD2
Fast Kinase Domains 2



2q33.3
MELAS-like syndrome - (16.65)
186
FAT2
Fat tumor suppressor, Drosophila, Homologh of, 2


5q33.1
Spinocerebellar ataxia 45 - SCA45 (13.41)
187
FBLN5
Fibulin 5 (extra-cellular matrix)



14q32.12
Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.11)
188
FBXL4
F-box and leucine-rich repeat protein 4


6q16.1-q16.2
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.55)
189
FBXO38
F-box protein 38



5q32
Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.20)
190
FDX2
Ferredoxin(M)


19p13.2
Sensory motor axonal neuropathy and myopathy - (16.77)
191
FGD4
Actin-filament binding protein Frabin



12p11.21
Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.30)
192
FGF14
Fibroblast growth factor 14



13q34
Spinocerebellar ataxia 27 - SCA27 (13.24)
193
FHL1
Four and a half LIM domain 1



Xq26.3
Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 5.23, 5.24, 5.25)
Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 5.23, 5.24, 5.25)
X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 5.23, 5.24, 5.25)
Myopathy, reducing body, X-linked, childhood-onset - (1.3, 5.23, 5.24, 5.25)
Rigid spine syndrome related to FHL1 - RSS (1.3, 5.23, 5.24, 5.25)
Myopathy, reducing body, X-linked, severe early-onset - (1.3, 5.23, 5.24, 5.25)
Rigid spine syndrome - RSMD1 (1.3, 5.23, 5.24, 5.25)
194
FIG4
Sac domain-containing inositol phosphatase 3



6q21
charcot-marie-tooth disease, type 4j - CMT4J (12.53, 14.31)
Amyotrophic lateral sclerosis 11 - ALS11 (12.53, 14.31)
195
FKRP
Fukutin-related protein



19q13.32
Walker-Warburg syndrome - WWS (1.33, 2.22, 2.28, 2.31)
Muscle-eye-brain disease - MEB (1.33, 2.22, 2.28, 2.31)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.33, 2.22, 2.28, 2.31)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.33, 2.22, 2.28, 2.31)
Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.33, 2.22, 2.28, 2.31)
196
FKTN
Fukutin



9q31-q33
Walker-Warburg syndrome - WWS (1.37, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.37, 2.18, 2.19, 10.59)
fukuyama congenital muscular dystrophy - FCMD (1.37, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.37, 2.18, 2.19, 10.59)
Cardiomyopathy, dilated, 1X - CMD1X (1.37, 2.18, 2.19, 10.59)
Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.37, 2.18, 2.19, 10.59)
197
FLAD1
flavin adenine dinucleotide synthetase, homolog(M)



1q21.3
Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
198
FLNA
Filamin A, alpha (actin binding protein 280)



Xq28
Myxomatous valvular dystrophy, X-ninked - XMVD (10.102)
cardiac valvular dysplasia, x-linked - CVD1 (10.102)
199
FLNC
Filamin C, gamma (actin-binding protein - 280)



7q32
Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.6, 10.27, 10.89)
Myopathy, distal, 4 - MPD4 (4.16, 5.6, 10.27, 10.89)
Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.16, 5.6, 10.27, 10.89)
200
FLVCR1
Feline leukemia subgroup C receptor 1



1q32.3
Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.106)
201
FUS
Fusion (involved in t(12;16) in malignant liposarcoma)



16q12
Amyotrophic lateral sclerosis - ALS6 (12.48)
202
FXN
Frataxin(M)



9q13-q21.1
Friedreich ataxia - FRDA (13.51)
Friedreich ataxia with retained reflexes - FARR (13.51)
203
FXR1
FMR1 autosomal homolog


3q26.33
Congenital multi-minicore myopathy - (3.57)
204
GAA
Acid alpha-glucosidase preproprotein



17q25.2-q25.3
Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.53, 9.1, 10.90)
Glycogen storage disease II - GSDII (1.53, 9.1, 10.90)
205
GAN1
Gigaxonin


16q23.2
Giant axonal neuropathy-1 - GAN1 (14.112)
206
GARS
Glycyl-tRNA synthetase



7p15
Neuropathy, distal hereditary motor type V - HMN V (12.21, 14.48)
Spinal muscular atrophy, distal, type V - DSMAV (12.21, 14.48)
Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.21, 14.48)
207
GATAD1
GATA zinc finger domain containing 1



7q21-q22
Cardiomyopathy, dilated, 2B - CMD2B (10.79)
Dilated cardiomyopathy realted to GATAD1 - (10.79)
208
GBA2
Glucosidase, beta (bile acid) 2



9p13.3
Spastic paraplegia 46, autosomal recessive - SPG46 (15.45)
209
GBE1
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



3p12
Glycogen branching enzyme deficiency - GSD IV (9.3)
210
GDAP1
Ganglioside-induced differentiation-associated protein 1



8q13-q21
Charcot-Marie-Tooth disease, type 4A - CMT4A (14.20, 14.54, 14.78)
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.20, 14.54, 14.78)
Charcot-Marie-Tooth disease, type 2K - CMT2K (14.20, 14.54, 14.78)
Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.20, 14.54, 14.78)
211
GDAP2
Ganglioside induced differentiation associated protein 2


1p12
Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.80)
212
GFPT1
Glutamine-fructose-6-phosphate transaminase 1



2p12-p15
Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.18)
213
GJA5
Connexin 40



1q21.1
atrial fibrillation, familial, 1 - ATFB1 (10.152, 10.153)
214
GJB1
Gap junction protein, beta 1, 32kDa (connexin 32)



Xq13.1
Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.34, 14.42)
215
GJB3
Gap junction protein, beta 3, 31kDa (=connexin 31)



1p34.3
Peripheral neuropathy and deafness, autosomal dominant - (14.110)
216
GJC2
gap junction protein, gamma 2, 47kDa



1q42.13
Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)
217
GLE1
GLE1 RNA export mediator homolog (yeast)



9q34.11
Lethal congenital contracture syndrome 1 - LCCS1 (12.75)
218
GMPPB
GDP-mannose pyrophosphorylase B



3p21.31
Muscle-eye-brain disease - MDDGA14 (1.43, 2.30, 2.39, 11.35)
Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.43, 2.30, 2.39, 11.35)
Congenital Myasthenic syndrome related to GMPPB - (1.43, 2.30, 2.39, 11.35)
219
GNB4
Guanine nucleotidebinding protein, beta-4


3q28-q29
Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.17)
220
GNE
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



9p13.3
Nonaka myopathy - NM (4.3)
Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
221
GOLGA2
Golgin A2



9q34.113
GOLGA2-related congenital muscle dystrophy with brain involvement - (2.46)
222
GOSR2
Golgi SNAP receptor complex member 2



17q21.32
Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (2.41)
223
GPD1L
Glycerol-3-phosphate dehydrogenase 1-like



3p22.3
brugada syndrome 2 - (10.162)
224
GRID2
Glutamate receptor, ionotropic, delta 2


4q22.1
Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.71)
225
GRM1
Glutamate receptor metabotropic, 1


6q24.3
Spinocerebellar ataxia 44 - SCA44 (13.40, 13.66)
Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.66)
226
GYG1
Glycogenin 1



3q24
Glycogen storage disease XV - GSD15 (9.8, 9.12)
Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
227
GYS1
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



19q13.3
glycogen storage disease type 0 - GSD0b (9.9)
228
HACD1
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase


10p12.33
Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.47, 10.108)
Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.47, 10.108)
Congenital myopathy related to PTPLA - (3.47, 10.108)
229
HACE1
Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1


6q16.3
Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.71)
230
HARS
Histidyl-tRNA synthetase



5q31.3
Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.62)
231
HCN4
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



3p22.2
Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.168, 10.170)
familial sinusal bradycardia - FSBD (10.168, 10.170)
Brugada syndrome 8 - BRGDA8 (10.168, 10.170)
232
HEXB
Hexosaminidase B



5q13.3
Late onset spinal muscular atrophy related to HEXB - (12.83)
233
HINT1
Histidine triad nucleotide binding protein 1



5q23.3
Axonal neuropathy with myotonia - NMAN (12.15, 14.77)
Distal hereditary motor neuronopathy - (12.15, 14.77)
234
HK1
Hexokinase 1(M)



10q22.1
Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.29)
235
HNRNPA1
Heterogeneous nuclear ribonucleoprotein A1



12q13.13
Isolated inclusion body myopathy - IBMPFD3 (3.38, 12.62)
Amyotrophic lateral sclerosis 20 - ALS20 (3.38, 12.62)
236
HNRNPA2B1
Hetergeneous nuclear ribonucleoprotein A2/B1


7q15.2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.28)
237
HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like



4q21
Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.15)
238
HOXD10
Homeobox D10



2q31.1
Charcot-Marie-Tooth disease, congenital, vertical talus - (14.9)
239
HRAS
V-Ha-RAS Harvey Rat Sarcoma Viral



11p15.5
Myopathy, congenital, With excess of muscle spindles - CMEMS (3.50)
240
HSPB1
Heat shock 27kDa protein 1



7q11.23
Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.18, 14.50)
Neuropathy, distal hereditary motor, type IIB - HMN2B (12.18, 14.50)
241
HSPB3
Heat shock 27kDa protein 3



5q11.2
neuronopathy, distal hereditary motor, type IIC - HMN2C (12.19)
242
HSPB8
Heat shock 27kDa protein 8



12q24.23
Neuropathy, distal hereditary motor, type II - HMN2A (4.21, 12.17, 14.55)
Rimmed vacuole myopathy - (4.21, 12.17, 14.55)
Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.21, 12.17, 14.55)
243
HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
Spastic paraplegia 13 - SPG13 (15.8)
244
HSPG2
Perlecan



1p36.1-p34
Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
245
IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
246
IFRD1
Interferon-related developmental regulator 1



7q31.1
Spinocerebellar ataxia 18 - SCA18 (13.16)
247
IGHMBP2
Immunoglobulin mu binding protein 2



11q13.2-q13.4
Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.83)
Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.83)
248
ILK
Integrin-linked kinase



11p15.5-p15.4
Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.76)
249
INF2
Inverted formin 2



14q32-33
Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.16)
250
INPP5K
Inositol Polyphosphate-5-Phosphatase K



17p13.3
Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.48)
251
ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
myopathy with exercise intolerance, swedish type - (5.29)
myopathy with deficiency of succinate dehydrogenase and aconitase - (5.29)
myopathy with lactic acidosis, hereditary - HML (5.29)
252
ISPD
Isoprenoid synthase domain containing



7p21.2
Walker-Warburg syndrome - WWS (1.44, 2.24)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 (1.44, 2.24)
253
ITGA7
Integrin alpha 7 precursor



12q13
Congenital muscular dystrophy with integrin defect - (2.14)
Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
254
ITPR1
Inositol 1,4,5-triphosphate receptor type 1



3p26.1
Spinocerebellar ataxia 15 - SCA15 (13.14)
255
JPH2
Junctophilin-2



20q13.12
Hypertrophic cardiomyopathy related to junctophilin - (10.18)
Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18)
256
JUP
Junction plakoglobin



17q21.2
arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.113, 10.120)
naxos disease - (10.113, 10.120)
257
KARS
Lysyl-tRNA synthetase



16q23.1
Axonal neuropathy recessive - CMTRIB (14.79)
258
KBTBD13
Kelch repeat and BTB (POZ) domain containing 13



15q22.31
Nemaline myopathy 6 - NEM6 (1.60, 3.6)
LGMD related to KBTBD13 - (1.60, 3.6)
259
KCNA1
Potassium voltage-gated channel, shaker-related subfamily, member 1



12p13
Episodic ataxia with myokymia - EA1 (7.12)
260
KCNA5
Potassium voltage-gated channel, shaker-related subfamily, member 5



12p13.32
atrial fibrillation, familial - ATFB7 (10.148)
261
KCNC3
Potassium voltage-gated channel, Shaw-related subfamily, member 3



19q13.33
Spinocerebellar ataxia 13 - SCA13 (13.12)
262
KCND3
Potassium voltage-gated channel, Shal-related subfamily, member 3



1p13.2
Spinocerebellar ataxia 19 - SCA19 (10.169, 13.17)
Brugada syndrome 9 - BRGDA9 (10.169, 13.17)
263
KCNE1
Potassium voltage-gated channel, Isk-related family, member 1



21q22.12
Jervell and Lange-Nielsen syndrome - JLNS1 (10.126)
Long QT syndrome-5 - LQT5 (10.126)
264
KCNE2
Potassium voltage-gated channel, Isk-related family, member 2



21q22.12
Atrial fibrillation, 4 - ATFB4 (10.127, 10.141, 10.145)
Long QT syndrome-6 - LQT6 (10.127, 10.141, 10.145)
265
KCNE3
Potassium voltage-gated channel, Isk-related family, member 3



11q13.4
Brugada syndrome 6 - BRGDA6 (7.11, 10.166)
Hypokalaemic periodic paralysis - HOKPP (7.11, 10.166)
266
KCNH2
Voltage-gated potassium channel, subfamily H, member 2



7q36.1
Short qt syndrome 1 - SQT1 (10.123, 10.137)
Long QT syndrome-2 - LQT2 (10.123, 10.137)
267
KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)



17p11.2
Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
268
KCNJ2
Potassium inwardly-rectifying channel J2



17q24.3
Long QT syndrome-7 - LQT7 (10.128, 10.139, 10.150)
Atrial fibrillation, 9 - ATFB9 (10.128, 10.139, 10.150)
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.128, 10.139, 10.150)
269
KCNJ5
Potassium inwardly-rectifying channel, subfamily J, member 5



11 q24.3
Long QT syndrome 13 - LQT13 (10.134)
270
KCNQ1
Potassium voltage-gated channel, KQT-like subfamily, member 1



11p15.5-p15.4
Atrial fibrillation, 3 - ATFB3 (10.122, 10.138, 10.140, 10.144)
jervell and lange-nielsen syndrome - JLNS1 (10.122, 10.138, 10.140, 10.144)
Romano-Ward syndrome - RWS (10.122, 10.138, 10.140, 10.144)
Long QT syndrome-1 - LQT1 (10.122, 10.138, 10.140, 10.144)
271
KIAA0196
Strumpellin



8q24.13
Spastic paraplegia 8 - SPG8 (15.4)
272
KIDINS220
kinase D-interacting substrate, 220kDa


2p25.1
Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.22)
273
KIF1A
Kinesin family member 1A



2q37.3
Neuropathy, hereditary sensory, type IIC - HSN2C (14.105, 15.38)
Spastic paraplegia 30 - SPG30 (14.105, 15.38)
274
KIF1B
Kinesin family member 1B(M)



1p36.2
Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.44)
275
KIF1C
kinesin family member 1C



17p13.2
ataxia, spastic, 2, autosomal recessive - SPAX2 (15.77)
276
KIF21A
Kinesin family member 21A



12q12
Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
277
KIF26B
Kinesin family member 26B


1q44
Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.85)
278
KIF5A
Kinesin family member 5A



12q13.13
Spastic paraplegia 10 - SPG10 (12.67, 14.69, 15.6)
CMT2 related to KIF5A - (12.67, 14.69, 15.6)
Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.67, 14.69, 15.6)
279
KLC2
Kinesin light chain 2


11q13.2
Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.70)
280
KLHL40
Kelch-like family member 40



2p22.1
Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
281
KLHL41
Kelch-like family member 41



2q31.1
Nemaline myopathy - NEM9 (3.9)
282
KLHL9
Kelch-like homologue 9



9p21.2-p22.3
Early onset distal myopathy with KLHL9 mutations - (4.15)
283
KY
Kyphoscoliosis peptidase



3q22.2
Myopathy microfibrillar type 7 - MFM7 (5.8)
284
L1CAM
L1 cell adhesion molecule



Xq28
CRASH syndrome - L1CAM (15.72)
CRASH syndrome - HSAS (15.72)
MASA syndrome - L1CAM (15.72)
Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.72)
285
LAMA2
Laminin alpha 2 chain of merosin



6q22-q23
Muscular dystrophy, congenital merosin-deficient - MDC1A (1.49, 2.1)
LGMDR23 - (1.49, 2.1)
286
LAMA4
Laminin alpha 4



6q21
Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.71)
287
LAMA5
Laminin, Alpha 5



20q13.33
Presynaptic congenital myasthenic syndrome - (11.36)
288
LAMB2
Laminin, beta 2 (laminin S)



3p21
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.32)
289
LAMP2
Lysosomal-associated membrane protein 2 precursor



Xq24
Danon disease - (5.14)
Glycogen storage disease IIb - GSD2B (5.14)
290
LARGE1
LARGE xylosyl- and glucuronyltransferase 1


22q12.3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.32)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.32)
291
LDB3
LIM domain binding 3



10q22
myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.5, 10.25, 10.39, 10.94)
cardiomyopathy, dilated 1C - CMD1C (4.12, 5.5, 10.25, 10.39, 10.94)
Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.12, 5.5, 10.25, 10.39, 10.94)
Left ventricular noncompaction 3 - LVNC3 (4.12, 5.5, 10.25, 10.39, 10.94)
292
LDHA
Lactate dehydrogenase A



11p15.4
Glycogen storage disease XI - GSD11 (9.15)
Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
293
LIMS2
LIM and senescent cell antigen-like domains 2



2q14.3
Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.54)
294
LITAF
Lipopolysaccharide-induced TNF factor



16p13.3-p12
Hereditary motor and sensory, type 1C - CMT1C (14.3)
295
LMNA
Lamin A/C



1q22
Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
restrictive dermopathy - (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.21, 2.17, 10.37, 14.73)
296
LMOD3
Leiomodin 3 (fetal)



3p14.1
Nemaline myopathy - NEM10 (3.10)
297
LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)



2p25.1
Reccurrent myoglobinuria, autosomal recessive - (9.28)
298
LRP12
Low density lipoprotein receptor-related protein 12


8q22.3
Oculopharyngodistal myopathy - OPDM (5.18)
299
LRP4
LDL receptor related protein 4



11p11.2
Congenital myasthenic syndrome - CMS17 (11.23)
300
LRSAM1
Leucine rich repeat and sterile alpha motif containing 1



9q33.3
Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.58)
301
MAG
Myelin associated glycoprotein



19q13.12
Spastic paraplegia 75, autosomal recessive - SPG75 (15.63)
302
MAP3K20
Mitogen-activated protein kinase kinase 20



2q31.1
Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.20)
303
MAPT
Microtubule associated protein Tau



17q21.31
Lower motor neuron disease with respiratory failure related to MAPT - (12.87)
304
MARS
Methionyl-tRNA synthetase



12q13.3
Charcot-Marie-Tooth 2 - (14.60)
305
MARS2
Methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
306
MATR3
Matrin 3



5q31
Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.63)
Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.63)
307
MB
Myoglobin


22q12.3
Myopathy with characteristic sarcoplasmic inclusions - (5.34)
308
MEGF10
Multiple EGF-like-domains 10



5q23.2
Recessive congenital myopathy with minicores - (3.33, 3.34)
Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.33, 3.34)
309
MET
MET protooncogene



7q31.2
Arthrogryposis and muscular dysplasia - (16.23)
310
MFN2
Mitofusin 2(M)



1p36.22
Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.45, 14.68, 14.72)
Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.45, 14.68, 14.72)
Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.45, 14.68, 14.72)
311
MGME1
Mitochondrial genome maintenance exonuclease 1(M)


20p11.23
Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.52)
312
MIB1
Mindbomb homolog 1 (drosophila)


18q11.2
Left ventricular noncompaction 7 - LVNC7 (10.98)
313
MME
Membrane metallo-endopeptidase



3q25.2
Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.84)
Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.84)
314
MORC2
MORC family CW-type zinc finger 2



2q12.2
Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.64)
315
MPV17
MpV17 mitochondrial inner membrane protein(M)



2p23.3
Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.75)
316
MPZ
Myelin protein zero



1q22
Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
Dejerine-Sottas syndrome - DSSA (14.2, 14.15, 14.27, 14.41, 14.52, 14.53)
317
MRE11A
MRE11 meiotic recombination 11 homolog A



11q21
ataxia telangiectasia-like disorder - ATLD (13.87)
318
MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
319
MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
320
MRPS25
Mitochondrial ribosomal protein S25(M)


3p25.1
Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.68)
321
MSTN
Myostatin



2q32.2
Muscle hypertrophy - MSLHP (5.20)
322
MSTO1
Misato homolog 1 (Drosophila)(M)


1q22
Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.49, 13.93, 16.69)
323
MTM1
Myotubularin



Xq28
Myotubular myopathy, X-linked - MTM1 (3.21)
324
MTMR2
Myotubularin-related protein 2



11q22
Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.21)
325
MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
326
MTPAP
Mitochondrial poly(A) polymerase(M)



10p12.1
Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
327
MURC
Muscle-related coiled-coil protein


9q31.1
Dilated cardiomyopathy related to MURC - (10.83)
328
MUSK
Muscle, skeletal, receptor tyrosine kinase



9q31.3-q32
Congenital myasthenic syndrome related to MuSK - CMS1B (11.15, 16.26)
Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.15, 16.26)
329
MYBPC1
Myosin-binding proteinC, slow type



12q23.2
Arthrogryposis, distal, type 1B - DA1B (16.10)
330
MYBPC3
Cardiac myosin binding protein-C



11p11.2
Cardimyopathy, dilated, 1A - CMD1A (3.44, 10.4, 10.101, 10.74)
Dilated cardiomyopathy related to MYBPC3 - (3.44, 10.4, 10.101, 10.74)
congenital skeletal myopathy and fatal cardiomyopathy - (3.44, 10.4, 10.101, 10.74)
Left ventricular noncompaction 10 - LVNC10 (3.44, 10.4, 10.101, 10.74)
Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.44, 10.4, 10.101, 10.74)
331
MYH14
Myosin, heavy chain 14, non muscle



19q13.33
Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.86)
332
MYH2
Myosin, heavy polypeptide 2, skeletal muscle



17p13.1
Myopathy congenital, with fiber-type disproportion - CFTD (3.37)
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.37)
Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.37)
333
MYH3
Myosine, heavy chain 3, skeletal muscle, embryonic



17p13
Arthrogryposis, distal, type 2A - DA2A (16.11, 16.14)
Arthrogryposis, distal, type 2B - DA2B (16.11, 16.14)
334
MYH6
Myosin heavy chain 6



14q12
Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.172, 10.66)
Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.172, 10.66)
Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.172, 10.66)
Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.172, 10.66)
335
MYH7
Myosin, heavy polypeptide 7, cardiac muscle, beta



14q12
Cardiomyopathy, dilated, 1S - CMD1S (3.18, 3.35, 3.36, 4.4, 10.1, 10.54, 10.96)
Myopathy, distal 1 - MPD1 (3.18, 3.35, 3.36, 4.4, 10.1, 10.54, 10.96)
cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.18, 3.35, 3.36, 4.4, 10.1, 10.54, 10.96)
Left ventricular noncompaction 5 - LVNC5 (3.18, 3.35, 3.36, 4.4, 10.1, 10.54, 10.96)
Myosin storage myopathy - (3.18, 3.35, 3.36, 4.4, 10.1, 10.54, 10.96)
336
MYH8
Myosin heavy chain, 8, skeletal muscle, perinatal



17p13
Myosin, heavy chain, perinatal - MYH8 (16.19)
337
MYL1
Myosin, light polypeptide 1, alkali, skeletal fast


2q34
Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA (3.55)
338
MYL2
Myosin light chain 2



12q23-q24.3
myopathy, congenital, with fiber-type disproportion - CFTD (3.19, 10.9)
Cardiomyopathy, familial hypertrophic, 10 - CMH10 (3.19, 10.9)
Cardiomyopathy, hypertrophic, 10 - CMH10 (3.19, 10.9)
339
MYL3
Myosin light chain 3



3p21.3-p21.2
Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
340
MYL4
Myosin, Light Chain 4, Alkali, Atrial, Embryonic


17q21.32
ATFB18 - Atrial fibrillation (10.160)
341
MYLK2
Myosin light chain kinase 2



20q13.31
cardiomyopathy, familial hypertrophic - CMH (10.15)
342
MYMK
Myomaker



9q34.2
Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.51)
343
MYO18B
Myosin XVIIIB



22q12.1
Nemaline Myopathy with Cardiomyopathy - (3.12)
Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.12)
344
MYO9A
Myosin IXA



15q23
Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.30)
345
MYOT
Myotilin



5q31
Myofibrillar myopathy, myotilin related - MFM3 (1.20, 4.9, 5.3, 5.4)
Spheroid body myopathy - (1.20, 4.9, 5.3, 5.4)
Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.20, 4.9, 5.3, 5.4)
346
MYOZ2
Myozenin 2, or calsarcin 1, a Z disk protein



4q26
Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)
347
MYPN
Myopalladin



10q21.1
Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.11, 10.23, 10.72, 10.88)
Nemaline myopathy - NEM11 (3.11, 10.23, 10.72, 10.88)
348
NAGLU
N-acetyl-alpha-glucosaminidase



17q21.2
Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.61)
349
NDRG1
N-myc downstream regulated gene 1



8q24.3
Charcot-Marie-Tooth disease, type 4D - CMT4D (14.25)
Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.25)
Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.25)
350
NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
patient with HCM and isolated respiratory complex I deficiency - (10.29)
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.29)
Mitochondrial complex 1 deficiency, nuclear type 11 - MC1DN11 (10.29)
351
NEB
Nebulin



2q22
Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.10)
352
NEFH
Neurofilament, heavy polypeptide



22q12.2
Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.68, 14.65)
Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.68, 14.65)
353
NEFL
Neurofilament, light polypeptide 68kDa



8p21
Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.18, 14.49)
Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.18, 14.49)
Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.18, 14.49)
354
NEK1
Never in motosis gene A-related kinase 1



4q33
Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.66)
355
NEXN
Nexilin(F-actin binding protein)



1p32-p31
Hypertrophic cardiomyopathy related to nexilin - (10.21, 10.64)
Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.21, 10.64)
Cardiomyopathy, dilated, 1CC - CMD1CC (10.21, 10.64)
356
NGF
Nerve growth factor (beta polypeptide)



1p13.1
neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.98)
357
NIPA1
Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1



15q11.2
Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
358
NKX6-2
NK6 homeobox 2


10q26.3
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.82)
359
NOP56
NOP56 ribonucleoprotein



20p13
Spinocerebellar ataxia 31 - SCA36 (13.32)
360
NOTCH2NLC
Notch2 N-terminal-like protein


1q21.2
Neuronal intranuclear inclusion diseases - NIID (14.117)
361
NPPA
Natriuretic peptide precursor A



1p36.22
atrial fibrillation, familial, 6 - ATFB6 (10.147)
362
NT5C2
5'-nucleotidase, cytosolic II



10q24-q32
Spastic paraplegia 45, autosomal recessive - SPG45 (15.44)
363
NTRK1
neurotrophic receptor tyrosine kinase 1



1biq23.1
Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.97)
364
NUP155
Nucleoporin 155 kDa



5p13.2
Atrial fibrillation, 15 - ATFB15 (10.157)
365
NUP88
Nucleoporin 88kD


17p13.2
Fetal akinesia deformation sequence 4 - FADS4 (16.29)
366
OPA1
optic atrophy 1(M)



3q28-q29
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.56, 16.58)
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.56, 16.58)
367
OPTN
Optineurin



10p14
Amyotrophic lateral sclerosis 12 - ALS12 (12.54)
368
ORAI1
ORAI calcium release-activated calcium modulator 1



12q24.31
Tubular aggregate myopathy 2 - TAM2 (5.32)
369
PABPN1
Poly(A) binding protein, nuclear 1



14q11.2-q13
Oculopharyngeal muscular dystorphy - OPMD (5.17)
370
PAX7
Paired Box gene 7



1p36.13
Congenital Myopathy related to PAX7 - (3.58)
371
PCNA
Proloferating cell nuclear antigen


20p12.3
Ataxia telangiectasia-like disorder 2 - ATLD2 (13.88)
372
PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
Charcot-Marie-Tooth neuropathy X-linked 6 - (14.39)
373
PDYN
Prodynorphin



20p13-p12-3
Spinocerebellar ataxia 23 - SCA23 (13.21)
374
PEX7
Peroxisomal biogenesis factor 7



6q21-q22
Refsum disease, adult - RD (13.91)
375
PFKM
Phosphofructokinase, muscle



12q13.3
Glycogen storage disease VII - PFKM (9.5)
376
PFN1
Profilin 1



17p13.2
Amyotrophic lateral sclerosis 18 - ALS18 (12.60)
377
PGAM2
Phosphoglycerate mutase 2 (muscle)



7p13-p12
Glycogen storage disease X - GSD10 (9.14)
Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
378
PGK1
Phosphoglycerate kinase 1



Xq13
posphoglycerate kinase deficiency - (9.13)
379
PGM1
Phosphoglucomutase 1



1p31
Glycogen storage disease XIV - GSD14 (9.7)
380
PHKA1
Phosphorylase b kinase, alpha submit



Xq13
glycogen storage disease, type IXD - GSD9D (9.6)
381
PHOX2A
Paired-like aristaless homeobox protein 2A



11q13.2
Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
382
PHYH
Phytanoyl-CoA 2-hydroxylase



10q13
Refsum disease, adult - RD (13.90)
383
PIEZO2
Piezo-type mechanosensitive ion channel component 2


18p11.22-p11.21
Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
384
PIP5K1C
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



19p13.3
Lethal congenital contractural syndrome 3 - LCCS3 (12.77)
385
PKP2
Plakophilin 2



12p11.21
Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.110)
386
PLD3
Phospholipase D family, member 3


19q13.2
Spinocerebellar ataxia 46 - SCA46 (13.42)
387
PLEC
Plectin



8q24.3
Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.41, 1.58, 5.19, 11.34)
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.41, 1.58, 5.19, 11.34)
Myasthenic syndrome, with plectin defect - (1.41, 1.58, 5.19, 11.34)
Limb girdle muscular dystrophy with ophthalmoplegia - (1.41, 1.58, 5.19, 11.34)
388
PLEKHG5
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



1p36
spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.80)
Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.80)
389
PLN
Phospholamban



6q22.1
Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.51)
Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.51)
Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.51)
390
PLP1
Proteolipid protein 1



Xq22
Spastic paraplegia 2 - SPG2 (15.73)
391
PMP2
peripheral myelin protein-2



8q21.13
Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
392
PMP22
Peripheral myelin protein 22



17p12-p11.2
Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.40)
Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.40)
Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.40)
Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.40)
393
PNKP
polynucleotide kinase 3’-phosphatase



19q13.33
Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.74, 14.86)
Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.74, 14.86)
394
PNPLA2
Adipose triglyceride lipase (desnutrin)



1p15.5
Neutral lipid storage disease without ichthyosis - NLSDM (9.27)
395
PNPLA6
Patatin-like phospholipase domain containing 6



19p13.3-p13.2
Spastic paraplegia 39, autosomal recessive - SPG39 (15.41)
396
PNPLA8
Patatin-like phospholipase domain containing 8(M)


7q31.1
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
397
POGLUT1
Protein O-Glucosyltransferase 1



3q13.33
Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.45)
398
POLG
Polymerase (DNA directed), gamma(M)



15q25
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.85, 16.32, 16.38, 16.46, 16.47)
spinocerebellar ataxia with epilepsy, included - SCAE (13.85, 16.32, 16.38, 16.46, 16.47)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.85, 16.32, 16.38, 16.46, 16.47)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.85, 16.32, 16.38, 16.46, 16.47)
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.85, 16.32, 16.38, 16.46, 16.47)
Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.85, 16.32, 16.38, 16.46, 16.47)
399
POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.35)
400
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



1p34.1
Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.39, 2.23, 2.27)
Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.39, 2.23, 2.27)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.39, 2.23, 2.27)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.39, 2.23, 2.27)
401
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2



3p22.1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.50, 2.25)
Walker-Warburg syndrome - WWS (1.50, 2.25)
LGMDR24 - (1.50, 2.25)
402
POMK
Protein-O-mannose kinase



8p11.21
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (2.38)
403
POMT1
Protein-O-mannosyltransferase 1



9q34.1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.35, 2.20)
Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.35, 2.20)
Walker-Warburg syndrome - WWS (1.35, 2.20)
404
POMT2
Protein-O-mannosyltransferase 2



14q24.3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.38, 2.21, 2.29)
Walker-Warburg syndrome - WWS (1.38, 2.21, 2.29)
Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.38, 2.21, 2.29)
Muscle-eye-brain disease - MEB (1.38, 2.21, 2.29)
405
PPP2R2B
Protein phosphatase 2 regulatory subunit B, beta isoform



5q32
Spinocerebellar ataxia 12 - SCA12 (13.11)
406
PRDM12
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



9q34.12
Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.101)
407
PRDM16
PR Domain-Containing Protein 16


1p36.32
Dilated cardiomyopathy related to PRDM16 - CMD1LL (10.73, 10.99)
LEFT VENTRICULAR NONCOMPACTION 8 - LVNC8 (10.73, 10.99)
Left ventricular noncompaction 8 - LVNC8 (10.73, 10.99)
408
PREPL
Prolyl endopeptidase-like



2p21
Myasthenic syndrome, congenital, 22 - CMS22 (11.28)
409
PRKAG2
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



7q31
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
410
PRKCG
Protein kinase C, gamma



19q13.42
Spinocerebellar ataxia 14 - SCA14 (13.13)
411
PRPH
Peripherin



12q13.12
Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.69)
412
PRPS1
Phosphoribosyl pyrophosphate synthetase 1



Xq21.32-q24
charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.38)
413
PRUNE1
Prune exopolyphosphatase 1


1q21.3
Spinal muscular atrophy, related to PRUNE1 - (12.84)
414
PRX
Periaxin



19q13
Charcot-Marie-Tooth disease, type 4F - CMT4F (14.28, 14.43)
Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.28, 14.43)
415
PSEN1
Presenilin 1



14q24.2
Cardiomyopathy, dilated, 1U - CMD1U (10.56)
416
PSEN2
Presenilin 2



1q42.13
Cardiomyopathy, dilated, 1W - CMD1V (10.57)
417
PTRF
Polymerase I and transcript release factor(M)



17q21-q23
lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
418
PTRH2
Peptidyl-tRNA Hydrolase 2



17q23.1
Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.67)
419
PUM1
Pumilio, Drosophila, Homologh of, 1


1p35.2
Spinocerebellar ataxia 47 - SCA47 (13.43)
420
PUS1
Pseudouridylate synthase 1(M)



12q24.33
Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.59)
421
PYGM
Glycogen phosphorylase



11q12-q13.2
McArdle disease - PYGM (9.4)
422
PYROXD1
Pyridine nucleotidedisulphide oxidoreductase domain 1


12p12.1
Early-onset myofibrillar myopathy with PYRODX1 defect - (1.59, 3.60, 5.9)
LGMD related to PYROXD1 - (1.59, 3.60, 5.9)
Congenital Myopathy related to PYROXD1 - (1.59, 3.60, 5.9)
423
RAB7A
RAB7, member RAS oncogene family



3q21
Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.46)
424
RAF1
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



3p25.2
Dilated cardiomyopathy related to RAF1 - CMD1NN (10.75)
425
RAPSN
Rapsyn



11p11.2-p11.1
Myasthenic syndrome, congenital - CMS1D (11.17, 16.28)
Fetal akinesia deformation sequence 2 - FADS2 (11.17, 16.28)
426
RBCK1
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



20p13
Polyglucosan storage myopathy - (9.11)
427
RBM20
RNA binding motif protein 20



10q25.3
Cardiomyopathy, dilated, 1DD - CMD1DD (10.65)
428
RBM7
RNA binding motif protein 7


11q23.2
Spinal motor neuropathy - (12.31)
429
REEP1
Receptor accessory protein 1(M)



2p11.2
Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
Spastic paraplegia 31 - SPG31 (12.23, 15.12)
430
REEP2
Receptor expression-enhancing proten 2


5q31.2
Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)
431
RETREG1
Family with sequence similarity 134 member B


5p15.1
Hereditary sensory neuropathy, type IIB - HSAN2B (14.94)
432
RFC1
Replication faction C, subunit


4p14
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome - CANVAS (13.94)
433
RNASEH1
Ribonuclease H1(M)


2p25.3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.39)
434
RNF216
Ring finger protein 216



7p22.1
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.92)
435
RPH3A
Rabphilin 3A


12q23.3
Congenital myasthenic syndrome related to RPH3A - (11.38)
436
RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.36, 16.49, 16.50)
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.36, 16.49, 16.50)
437
RTN2
Reticulon 2



19q13
Spastic paraplegia 12 - SPG12 (15.7)
438
RUBCN
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein


3q29
Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.68)
439
RXYLT1
Ribitol xylosyltransferase 1 (transmembrane protein 5)


12q14.2
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.36)
440
RYR1
Ryanodine receptor 1 (skeletal)



19q13.1
centronuclear myopathy, recessive - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
minicore myopathy with external ophthalmoplegia - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
myopathy, congenital, with fiber-type disproportion - CFTD (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
Fetal akinesia deformation sequence related to RYR1 - (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
Malignant hyperthermia susceptibility 1 - MHS1 (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
Central core disease - CCD (2.50, 3.17, 3.24, 3.28, 3.29, 3.30, 3.42, 5.30, 8.1, 16.30)
441
RYR2
Ryanodine receptor 2



1q43
Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.104, 10.115)
Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.104, 10.115)
Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.104, 10.115)
Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.104, 10.115)
442
RYR3
Ryanodine receptor 3


15q13-q14
Myopathy with nemaline bodies - (3.13)
443
SACS
Sacsin



13q12
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.89, 14.89, 15.81)
Charcot-Marie-Tooth disease, axonal; related to SACS - (13.89, 14.89, 15.81)
Spastic ataxia, Charlevoix-Saguenay type - SACS (13.89, 14.89, 15.81)
Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.89, 14.89, 15.81)
444
SBF1
SET binding factor 1



22q13.33
Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.23)
445
SBF2
SET binding factor 2



11p15.4
charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.22)
446
SCN11A
Sodium voltage-gated channel alpha subunit 11



3p22.2
Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.100)
447
SCN1B
Sodium channel, voltage-gated, type I, beta subunit



19q13.11
Atrial fibrillation, 13 - ATFB13 (10.155, 10.165)
Brugada syndrome 5 - BRGDA5 (10.155, 10.165)
448
SCN2B
Sodium channel, voltage-gated, type II, beta subunit



11q23.3
Atrial fibrillation, 14 - ATFB14 (10.156)
449
SCN3B
Sodium channel, voltage-gated, type III, beta subunit



11 q24.1
Atrial fibrillation, 16 - ATFB16 (10.158, 10.167)
Brugada syndrome 7 - BRGDA7 (10.158, 10.167)
450
SCN4A
Sodium channel, voltage-gated, type IV, alpha



17q23-q25.3
Hyperkalemic periodic paralysis - HYPP (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Myotonia potassium-aggravatd - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Sodium-channel myasthenia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Myasthenic syndrome, acetazolamide-responsive - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Congenital Myopathy related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Severe foetal hypokinesia related to SCN4A - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Paramyotonia congenita of Von Eulenburg - PMC (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
Potassium-aggravated myotonia - (3.59, 7.3, 7.4, 7.6, 7.7, 11.22, 16.31)
451
SCN4B
Sodium channel, voltage-gated, type IV, beta subunit



11q23.3
Atrial fibrillation, 17 - ATFB17 (10.131, 10.159)
Long QT syndrome 10 - LQT10 (10.131, 10.159)
452
SCN5A
Voltage-gated sodium channel type V alpha



3p22.2
Progressive familial heart block, type I - PFHBI (10.124, 10.151, 10.161, 10.171, 10.41)
Cardiomyopathy, dilated, 1E - CMD1E (10.124, 10.151, 10.161, 10.171, 10.41)
Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.124, 10.151, 10.161, 10.171, 10.41)
Ventricular fibrillation, idiopathic - IVF (10.124, 10.151, 10.161, 10.171, 10.41)
Ventricular fibrillation, paroxysmal familial - VF (10.124, 10.151, 10.161, 10.171, 10.41)
Hereditary bundle branch system defect - HBBD (10.124, 10.151, 10.161, 10.171, 10.41)
Cardiac conduction defect, progressive - PCCD (10.124, 10.151, 10.161, 10.171, 10.41)
Brugada syndrome - SCN5A (10.124, 10.151, 10.161, 10.171, 10.41)
Atrial fibrillation, 10 - ATFB10 (10.124, 10.151, 10.161, 10.171, 10.41)
Long QT syndrome-3 - LQT3 (10.124, 10.151, 10.161, 10.171, 10.41)
453
SCN9A
Sodium voltage-gated channel alpha subunit 9



2q24.3
Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.95)
454
SCO2
Cytochrome c oxidase assembly protein(M)



22q13.33
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.88)
Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.88)
455
SCYL1
SCY1 like pseudokinase 1


11q13.1
Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.74)
456
SDHA
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
Recessive neonatal isolated DC - (10.68)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
457
SELENON
Selenoprotein N1


1p36.13
Multiminicore disease, classical form - (2.13, 3.15, 3.31, 5.11)
myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.15, 3.31, 5.11)
Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.15, 3.31, 5.11)
Rigid spine syndrome - RSMD1 (2.13, 3.15, 3.31, 5.11)
Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.15, 3.31, 5.11)
Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.15, 3.31, 5.11)
458
SEPT9
Septin 9



17q25
Familial brachial plexus neuropathy - HNA (14.111)
459
SETX
Senataxin



9q34.13
Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.46, 13.82)
Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.46, 13.82)
Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.46, 13.82)
460
SGCA
Alpha sarcoglycan



17q21
Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.27)
461
SGCB
Beta sarcoglycan



4q12
Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.28)
462
SGCD
Delta-sarcoglycan



5q33-q34
Dilated Cardiomyopathy, 1L - CMD1L (1.30, 10.47)
Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.30, 10.47)
463
SGCE
Sarcoglycan, epsilon



7q21-q22
Myoclonus-dystonia syndrome - DYT11 (16.2)
464
SGCG
Gamma sarcoglycan



13q12
Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.29)
465
SGPL1
Sphingosine-1-Phosphate Lyase 1



10q22.1
Charcot-Marie-Tooth disease, axonal - (14.87)
466
SH3TC2
KIAA1985 protein



5q32
Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.24)
467
SIGMAR1
Sigma non-opioid intracellular receptor 1



9p13.3
spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.58)
Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.58)
468
SIL1
SIL1 homolog, endoplasmic reticulum chaperone



5q31
Marinesco-Sjogren syndrome - MSS (13.84)
469
SLC12A6
Potassium chloride cotransporter KCC3



15q13-q15
Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.109)
Charlevoix disease - SLC12A6 (14.109)
Andermann syndrome - SLC12A6 (14.109)
470
SLC16A1
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



1p13.2
Erythrocyte lactate transporter defect - (9.17)
471
SLC18A3
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3


10q11.2
Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.27)
472
SLC1A3
EAAT1 (excitatory amino acid transporter type 1)



5p13
episodic ataxia type 6 - EA6 (13.48)
473
SLC22A5
Solute carrier family 22 member 5



5q31
Carnitine deficiency, systemic primary - CDSP (9.19)
474
SLC25A1
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1


22q11.21
Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.29)
475
SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
476
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.33, 16.53, 16.54)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.33, 16.53, 16.54)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.33, 16.53, 16.54)
477
SLC25A42
Solute carrier family 25 member 42(M)


19p13.11
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.57)
Mitochondrial myopathy - (16.57)
478
SLC25A46
solute carrier family 25 member 46


5q22.1
Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.80)
479
SLC33A1
Solute carrier family 33 (acetyl- CoA transporter)



3q25.3
Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
480
SLC52A2
Solute carrier family 52, riboflavin transporter, member 2



8q24
Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.82)
481
SLC52A3
Solute carrier family 52, riboflavin transporter, member 3



20p13
Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.81)
482
SLC5A7
Solute carrier family 5 (sodium/choline cotransporter), member 7



2q12.31
Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.26, 12.26)
Congenital myasthenic syndrome with episodic apnea - CMS20 (11.26, 12.26)
483
SLC9A1
Solute carrier family 9, member 1


1p36.11
Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.72)
484
SMCHD1
Structural maintenance of chromosomes flexible hinge domain containing 1



18p11.32
Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
485
SMN1
Survival of motor neuron 1, telomeric



5q13
Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)
486
SNAP25
Synaptosome associated protein 25



20p12.2
Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.24)
487
SNTA1
Syntrophin, alpha 1



20q11.21
Long QT syndrome 12 - LQT12 (10.133)
488
SNX14
sorting nexin 14


6q14.3
Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.73)
489
SOD1
Superoxide dismutase 1, soluble



21q22.1
Amyotrophic lateral sclerosis 1 - ALS1 (12.42, 12.43)
Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.42, 12.43)
490
SPAST
Spastin



2p24-p21
Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
Spastic paraplegia 4 - SPG4 (15.2)
491
SPEG
SPEG complex locus



2q35
Centronuclear myopathy with dilated cardiomyopathy - (3.26)
492
SPG11
Spatacsin



15q21.1
Spastic paraplegia 11 - SPG11 (12.47, 14.85, 15.26)
Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.47, 14.85, 15.26)
Amyotrophic lateral sclerosis 5 - ALS5 (12.47, 14.85, 15.26)
493
SPG20
Spartin



13q12.3
Spastic paraplegia 20 - SPG20 (15.30)
494
SPG21
Maspardin



15q21-q22
Spastic paraplegia 20 - SPG21 (15.31)
495
SPG7
Paraplegin(M)



16q24.3
Spastic paraplegia 7 - SPG7 (15.24)
496
SPTAN1
Spectrin, alpha, nonerythrocytic 1



9q34.11
Distal motor neuropathy - (12.38)
497
SPTBN2
Spectrin, Beta, Nonerythrocytic, 2



11q13.2
Spinocerebellar ataxia 5 - SCA5 (13.5, 13.67)
Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.67)
498
SPTBN4
Spectrin, Beta, Nonerythrocytic, 4


19q13
Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.49)
499
SPTLC1
Serine palmitoyltransferase subunit 1



9q22.2
Neuropathy, hereditary sensory, type 1 - HSN1 (14.90)
Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.90)
500
SPTLC2
Serine palmitoyltransferase long chain base subunit 2



14q24.3
Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.92)
501
SQSTM1
Sequestosome 1



5q35.3
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.19, 12.73)
Myopathy, distal, with rimmed vacuoles - DMRV (4.19, 12.73)
502
STAC3
SH3 and cysteine rich domain 3


12q13.3
Myopathy, congenital, Bailey-Bloh - MYPBB (3.52, 3.53)
Myopathy, congenital, with malignant hyperthermia susceptibility - (3.52, 3.53)
503
STIM1
Stromal interaction molecule 1



11p15.4
Tubular aggregate myopathy 1 - TAM1 (5.31)
504
STUB1
STIP1 homology and U-box containing protein 1



16p13.3
Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.69)
Spinocerebellar ataxia 48 - SCA48 (13.44, 13.69)
505
SUCLA2
Succinate-CoA ligase, ADP-forming, beta subunit(M)



13q12.2-q13.3
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.48)
506
SUCLG1
Succinate-CoA ligase, alpha subunit(M)



2p11.2
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.51)
507
SURF1
Surfeit 1(M)



9q34.2
Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.32)
508
SYNE1
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



6q25
Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.82, 13.61, 16.21)
Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.82, 13.61, 16.21)
Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.82, 13.61, 16.21)
509
SYNE2
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



14q23.2
Nesprin-2 related muscular dystrophy - EDMD (1.7)
510
SYT14
Synaptotagmin 14



1q32.2
Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.64)
511
SYT2
Synaptotagmin II



1q32.1
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.13, 12.37)
Distal motor neuropathy related to SYT2 - (11.13, 12.37)
512
TARDBP
TAR DNA binding protein



1p36.2
amyotrophic lateral sclerosis 10 - ALS10 (12.52)
513
TAZ
Tafazzin



Xq28
Barth syndrome - BTHS (10.80, 10.91)
Endocardial fibroelastosis-2 - G4.5 (10.80, 10.91)
Noncompaction of left ventricular myocardium, isolated - INVM (10.80, 10.91)
Cardiomyopathy, X-linked dilated - CMD3A (10.80, 10.91)
514
TBK1
Tank-binding kinase 1


12q14.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.74)
515
TBP
TATA box binding protein



6q27
Spinocerebellar ataxia 17 - SCA17 (13.15)
516
TCAP
Telethonin



17q12
Dilated cardiomyopathy, 1N - (1.31, 2.16, 10.26, 10.49)
Congenital musuclar dystrophy with telethonin defect - (1.31, 2.16, 10.26, 10.49)
Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.31, 2.16, 10.26, 10.49)
Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.31, 2.16, 10.26, 10.49)
517
TDP1
Tyrosyl-DNA phosphodiesterase 1



14q31-q32
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.81)
518
TDP2
Tyrosyl-DNA phosphodiesterase 2


6p22.3
Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.76)
519
TECPR2
Tectonin beta-propeller repeat containing 2



14q32
Spastic paraplegia 49, autosomal recessive - SPG49 (15.48)
520
TECRL
Trans-2,3-Enoyl-CoA Reductase-Like Protein


4q13.1
Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.117)
521
TFG
TRK-fused gene



3q13
Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.67, 15.56)
Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.67, 15.56)
Spastic paraplegia 57, autosomal recessive - SPG57 (14.67, 15.56)
522
TGFB3
Transforming growth factor, beta 3



14q24.3
Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.103)
Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.103)
523
TGM6
Transglutaminase 6



20p13
Spinocerebellar ataxia 35 - SCA35 (13.31)
524
TIA1
Cytotoxic granuleassociated RNA binding protein



2p13
Welander distal myopathy - WDM (4.7)
525
TIMM22
Translocase of inner mitochondrial membrane 22(M)


17q13.3
Early onset of mitochondrial myopathy - (16.70)
526
TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.40, 16.44)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.40, 16.44)
527
TMEM240
Transmembrane protein 240


1p36.33
Spinocerebellar ataxia 19 - SCA21 (13.19)
528
TMEM43
Transmembrane protein 43



3p25.1
luma related muscular dystrophy - (1.8, 10.107)
arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.107)
Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.107)
529
TMEM65
Transmembrane Protein 65


8q24.13
Mitochondrial myopathy with severe neurological manifestations - (16.64)
530
TMPO
Lamina-associated polypeptide 2



12q22
Cardiomyopathy, dilated, 1T - CMT1T (10.55)
531
TNNC1
Slow troponin C



3p21.3-p14.3
Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.61)
Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.61)
532
TNNI2
Troponin I, type 2



11p15.5
Arthrogryposis, distal, type 2B - DA2B (16.12)
533
TNNI3
Troponin I, cardiac



19q13.4
Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.67, 10.78, 10.85)
Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.67, 10.78, 10.85)
Cardiomyopathy, familial restrictive - RCM (10.6, 10.67, 10.78, 10.85)
534
TNNT1
Slow troponin T



19q13.4
Nemaline myopathy 5 - NEM5 (3.5)
535
TNNT2
Troponin T2, cardiac



1q32
Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.40, 10.87, 10.97)
Left ventricular noncompaction 6 - LVNC6 (10.2, 10.40, 10.87, 10.97)
Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.40, 10.87, 10.97)
536
TNNT3
Troponin T3, skeletal



11p15.5
Arthrogryposis, distal, type 2B - DA2B (16.13)
537
TNPO3
Transportin 3



7q32.1-q32.2
Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.14, 3.61)
Congenital Myopathy related to TNPO3 - (1.14, 3.61)
538
TOP3A
DNA topoisomerase III


17p11.2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.42)
539
TOR1A
Torsin A



9q34
Torsion dystonia, early onset - EOTD (16.1)
540
TOR1AIP1
Torsin A interacting protein 1



1q25.2
LAP1B related muscular dystrophy - (1.9, 1.55)
Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.55)
Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 1.55)
541
TPM1
Tropomyosin 1 (alpha)



15q22
Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.100, 10.60)
Left ventricular noncompaction 9 - LVNC9 (10.3, 10.100, 10.60)
Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.100, 10.60)
542
TPM2
Tropomyosin 2 (beta)



9p13
Arthrogryposis, distal, type 1A - DA1A (3.4, 3.40, 16.9, 16.15)
arthrogryposis, distal, type 2B - DA2B (3.4, 3.40, 16.9, 16.15)
Cap myopathy, TPM2-related, included - (3.4, 3.40, 16.9, 16.15)
Nemaline myopathy 4 - NEM4 (3.4, 3.40, 16.9, 16.15)
543
TPM3
Tropomyosin 3



1q21.2
Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.16, 3.39)
544
TPP1
Tripeptidyl peptidase I



11p15.4
Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.60)
545
TRAPPC11
Trafficking protein particle complex 11



4q35.1
Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.42, 2.40)
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.42, 2.40)
546
TRDN
Triadin



6q22.31
CPVT5 - Ventricular tachycar (10.119)
547
TRIM2
Tripartite motif containing 2



4q31.3
Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.82)
548
TRIM32
Tripartite motif-containing 32



9q33.2
Sarcotubular myopathy - (1.32, 3.46)
Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.32, 3.46)
549
TRIM54
Tripartite motif-containing 54



2p.23.3
Cardiac and skeletal aggregate myopathy - (5.12)
550
TRIM63
Tripartite motif containing 63, E3 ubiquitin protein ligase



1p36.11
Cardiac and skeletal aggregate myopathy - (5.12)
551
TRIP4
Thyroid hormone receptor interactor 4



15q22.31
Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.11)
Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.11)
552
TRPC3
Transient receptor potential cation channel subfamily C member 3



4q27
Spinocerebellar ataxia 41 - SCA41 (13.36)
553
TRPV4
Transient receptor potential cation channel, subfamily V, member 4



12q23-q24
Scapuloperoneal spinal muscular atrophy - SPSMA (12.29, 12.30, 14.47)
Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.29, 12.30, 14.47)
Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.29, 12.30, 14.47)
554
TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
555
TTBK2
Tau tubulin kinase 2



15q15.2
Spinocerebellar ataxia 11 - SCA11 (13.10)
556
TTN
Titin



2q31
Hereditary myopathy with early respiratory failure - HMERF (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Congenital myopathy with fatal cardiomyopathy - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Cardiomyopathy, dilated, 1G - CMD1G (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Centronuclear myopathy related to TTN - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
LGMDR10 (Formerly LGMD2J) - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Tibial muscular dystrophy, tardive - TMD (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42)
557
TTPA
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



8q13.1-q13.3
Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.53)
Ataxia with isolated vitamin E deficiency - TTPA (13.53)
558
TTR
Transthyretin (prealbumin, amyloidosis type I)



18q12.1
Familial amyloid neuropathy - (16.4)
559
TUBA4A
Tubulin, Alpha-4A


2q35
Amyotrophic lateral sclerosis 22 - ALS22 (12.64)
560
TUBB3
Tubulin, beta 3



16q24.3
Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
561
TWNK
Twinkle mtDNA helicase


10q23.-q24.1
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.54, 16.34)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.54, 16.34)
562
TYMP
Thymidine phosphorylase



22q13.33
Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.43)
563
UBA1
Ubiquitin-activating enzyme 1



Xp11.23
Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.40)
564
UBA5
Ubiquitin-Like Modifier Activating Enzyme 5


3q22.1
Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.77)
565
UBAP1
Ubiquitin-associated protein 1


9p13.3
Spastic paraplegia 80, autosomal dominant - SPG80 (15.21)
566
UBQLN2
Ubiquilin 2



Xp11.21
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.57)
567
UCHL1
Ubiquitin Carboxyl-Terminal Esterase L1



4p13
Spastic paraplegia 79, autosomal recessive - SPG79 (15.67)
568
UNC13A
Unc-13 homolog A (C. elegans)


19p13.11
Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.37)
569
VAMP1
Vesicle associated membrane protein (synaptobrevin 1)



12p13
ataxia, spastic, 1, autosomal dominant - SPAX1 (11.31, 15.76)
Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.31, 15.76)
570
VAPB
Vesicle-associated membrane protein-associated protein B and C



7p15
Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.35, 12.50)
Amyotrophic lateral sclerosis - ALS8 (12.35, 12.50)
571
VCL
Vinculin



10q22.1-q23
Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.58)
Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.58)
572
VCP
Valosin-containing protein



9p13-p12
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 (1.57, 4.17, 5.27, 12.56, 14.63)
Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.57, 4.17, 5.27, 12.56, 14.63)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.57, 4.17, 5.27, 12.56, 14.63)
Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.57, 4.17, 5.27, 12.56, 14.63)
Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.57, 4.17, 5.27, 12.56, 14.63)
573
VMA21
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



Xq28
Myopathy, X-linked, with excessive autophagy - XMEA (5.15)
574
VPS13D
Vacuolar protein sorting 37, Yeast, homolg of, A


1p36.22-p36.21
Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 (13.57)
575
VPS37A
Vacuolar protein sorting-associated protein 37A



8p22
Spastic paraplegia 53, autosomal recessive - SPG53 (15.52)
576
VRK1
Vaccinia related kinase 1



14q32
Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.79, 14.115)
Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.79, 14.115)
Spinal muscular atrophy, distal, autosomal recessive - (12.10, 12.79, 14.115)
577
VWA3B
Von Willebrand factor A domain Containing Protein 3B


2q11.2
Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.75)
578
WARS
Tryptophanyl-tRNA synthetase


14q32.2
Neuronopathy, distal hereditary motor, type IX - HMN9 (12.25)
579
WDR73
WD Repeat-Containing Protein 73


15q24-q26
Spinocerebellar ataxia, autosomal recessive 5 - SCAR5 (13.58)
580
WNK1
WNK lysine deficient protein kinase 1



12p.13
neuropathy, hereditary sensory and autonomic, type iia - HSAN2 (14.93)
581
WWOX
WW Domain-Containing Oxidoreductase



16q23.1-q23.2
Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.65)
582
XRCC1
W-Ray Repair, Complementing Defective, In Chinese Hamster, 1


19q13.31
Spinocerebellar ataxia, autosomal recessive 26 - SCAR26 (13.79)
583
YARS
Tyrosyl-tRNA synthetase



1p35.1
Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.14)
584
YARS2
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



12p11.21
Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.60)
585
ZFHX2
Zinc finger homeobox 2


14q11.2
Marssili syndrome (insensitivity to pain, congenital, AD) - MARSIS (14.108)
586
ZFYVE26
Spastizin



14q24.1
Spastic paraplegia 15 - SPG15 (15.28)
587
ZFYVE27
Zinc finger, FYVE domain containing 27



10q24.2
Spastic paraplegia 33 - SPG33 (15.13)