Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
1
AARS
Alanyl-tRNA synthetase



16q22.1
Dominant distal hereditary motor neuropathy - (12.13, 14.53)
Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.13, 14.53)
2
AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.25)
3
ABCC9
ATP-binding cassette, sub-family C (member 9)



16p13.1
Cardiomyopathy, dilated, 1O - CMD1O (10.44)
4
ABHD5
Abhydrolase domain containing 5



3p25.3-p24.3
Chanarin-Dorfman syndrome - CDS (9.24)
5
ACAD9
acyl-CoA dehydrogenase family member 9(M)



3q21.3
ACAD9-deficient mild myopathy - (9.23)
6
ACADVL
Acyl-Coenzyme A dehydrogenase, very long chain(M)



17p13
Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.22)
7
ACTA1
Alpha actin, skeletal muscle



1q42.1
myopathy, congenital, with fiber-type disproportion - CFTD (2.44, 3.3, 3.11, 3.38)
Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.44, 3.3, 3.11, 3.38)
Nemaline myopathy 3 - NEM3 (2.44, 3.3, 3.11, 3.38)
8
ACTC1
Actin, alpha, cardiac muscle precursor



15q11-q14
Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.47)
Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.47)
Asymmetric septal hypertrophy - ASH (10.10, 10.47)
9
ACTN2
Actinin alpha2



1q42-q43
Hypertrophic cardiomyopathy related to actinin-2 - (10.22, 10.31)
dilated cardiomyopathy, 1aa - CMD1AA (10.22, 10.31)
10
ACVR1
Activin A receptor, type II-like kinase 2



2q23-q24
Fibrodysplasia ossificans progressiva - FOP (5.19)
11
ADCK3
Atypical kinaseADCK3, mitochondrial(M)



1q42.13
spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.58)
12
ADSSL1
Adénylosuccinate synthase-like



14q32-33
Adolescent onset distal myopathy - (4.18)
13
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



18p11-q11
Spinocerebellar ataxia 28 - SCA28 (13.26, 15.71)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.71)
14
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)
15
AGRN
Agrin



1p36.33
Familial limb girdle myasthenia related to agrin - CMS1B (11.16)
16
AIFM1
Apoptosis-inducing factor, mitochondrionassociated 1(M)



Xq24-q26.1
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.33)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.33)
Cowchock syndrome - NAMSD (14.33)
17
AKAP9
A kinase (PRKA) anchor protein (yotiao) 9



7q21.2
Long QT syndrome 11 - LQT11 (10.112)
18
ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase(M)



10q24.1
Spastic paraplegia 9 - SPG9 (15.5, 15.21)
Spastic paraplegia 9A, autosomal recessive - SPG9A (15.5, 15.21)
19
ALDH3A2
Aldehyde dehydrogenase 3A2



17p11.2
Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.61)
Fatty aldehyde dehydrogenase - FALDH (15.61)
Sjogren-Larsson syndrome - SLS (15.61)
20
ALG13
UDP-N-acetylglucosami-nyltransferase



Xq23
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S (2.36)
21
ALG14
UDP-N-acetylglucosaminyltransferase



1p21.3
Congenital myasthenic syndrome related to ALG14 - (11.24)
22
ALG2
Alpha-1,3/1,6-mannosyltransferase



9q31.1
Congenital myasthenic syndrome related to ALG2 - (11.23)
23
ALS2
Alsin



2q33.2
Spastic paralysis, infantile onset ascending - IAHSP (12.38, 15.62)
Amyotrophic lateral sclerosis, juvenile - ALS2 (12.38, 15.62)
Primary lateral sclerosis, juvenile - PLSJ (12.38, 15.62)
24
AMPD2
adenosine monophosphate deaminase 2



1p13.3
Spastic paraplegia 63, autosomal recessive - SPG63 (15.55)
25
ANG
Angiogenin



14q11.2
amyotrophic lateral sclerosis 9 - ALS9 (12.47)
26
ANK2
Ankyrin 2



4q25-q27
Long QT syndrome-4 - LQT4 (10.105)
27
ANKRD1
Ankyrin repeat domain 1 (cardiac muscle)



10q23.33
Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein - (10.21, 10.63)
Dilated cardiomyopathy related to cardiac ankyrin repeat protein - (10.21, 10.63)
28
ANO5
Anoctamin 5



11p14-12
Early onset calf distal myopathy - (1.32, 4.13)
Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.32, 4.13)
29
AP4B1
adaptor-related protein complex 4, beta 1 subunit



1p13.2
Spastic paraplegia 47, autosomal recessive - SPG47 (15.42)
30
AP4E1
Adaptor-related protein complex 5, zeta 1 subunit



15q21.2
Spastic paraplegia 51, autosomal recessive - SPG51 (15.46)
31
AP4M1
Adaptor-related protein complex 4, mu 1 subunit



7q22.1
Spastic paraplegia 50, autosomal recessive - SPG50 (15.45)
32
AP4S1
adaptor-related protein complex 4, sigma 1 subunit



14q12
Spastic paraplegia 52, autosomal recessive - SPG52 (15.47)
33
AP5Z1
Hypothetical protein LOC9907 ?



7p22.2
Spastic paraplegia 48, autosomal recessive - SPG48 (15.43)
34
APTX
Aprataxin



9p13.3
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.50)
35
AR
Androgen receptor



Xq11.2-q12
Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.65)
Kennedy disease - KD (12.65)
36
ARHGEF10
Rho guanine nucleotide exchange factor 10



8p23
Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)
37
ARL6IP1
ADP-ribosylation factor-like 6 interacting protein 1



16p12.3
Spastic paraplegia 61, autosomal recessive - SPG61 (15.53)
38
ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1



8p22
Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.29)
39
ASCC1
activating signal cointegrator 1 complex subunit 1



10q22.1
Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.35)
40
ATL1
Atlastin GTPase 1



14q22.1
Neuropathy, hereditary sensory, type ID - HSN1D (14.79, 15.1)
Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.79, 15.1)
41
ATL3
atlastin GTPase 3



11q13.1
Hereditary sensory neuropathy type IF - HSN IF (14.80)
42
ATM
Ataxia telangiectasia mutated



11q22.3
ataxia telangiectasia - AT (13.63)
43
ATP2A1
ATPase, Ca++ transporting, fast twitch 1



16p12.1
Brody myopathy - ATP2A1 (6.9)
44
ATP7A
ATPase, Cu++ transporting, alpha polypeptide



Xq13-q21
Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.21)
45
ATXN1
Ataxin 1



6p23
Spinocerebellar ataxia 1 - SCA1 (13.1)
Olivopontocerebellar atrophy I - OPCA1 (13.1)
46
ATXN10
Ataxin 10



22q13.31
Spinocerebellar ataxia 10 - SCA10 (13.9)
47
ATXN2
Ataxin 2



12q24.1
Spinocerebellar ataxia 2 - SCA2 (12.51, 13.2)
Olivopontocerebellar atrophy II - OPCA (12.51, 13.2)
Amyotrophic lateral sclerosis 13 - ALS13 (12.51, 13.2)
48
ATXN3
Ataxin 3



14q24.3-q32.2
Machado-Joseph disease - MJD (13.3)
Spinocerebellar ataxia 3 - SCA3 (13.3)
49
ATXN7
Ataxin 7



3p21.1-p12
Spinocerebellar ataxia 7 - SCA7 (13.7)
Olivopontocerebellar atrophy III - OPCA3 (13.7)
50
ATXN8OS
Ataxin 8 opposite strand



13q21
Spinocerebellar ataxia 8 - SCA8 (13.8)
51
B3GALNT2
Beta-1,3-N-acetylgalacto-saminyltransferase 2



1q42.3
Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.37)
52
B3GNT1
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1



11q13.2
Walker-Warburg syndrome (WWS) - MDDGA13 (2.27)
53
B4GALNT1
beta-1,4-N-acetyl-galactosaminyl transferase 1



12q13.3
Spastic paraplegia 26 - SPG26 (15.31)
54
BAG3
BCL2-associated athanogene 3



10q25.2-q26.2
myofibrillar myopathy with bag3 defect - (5.9)
55
BEAN1
Brain expressed, associated with Nedd42



16q21
spinocerebellar ataxia-31 - SCA31 (13.29)
56
BICD2
Bicaudal D homolog 2 (Drosophila)



9q22.31
Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2 (12.27)
57
BIN1
Amphiphysin



2q14
Centronuclear myopathy, related to BIN1, recessive - (3.18, 3.19)
Centronuclear myopathy, related to BIN1, dominant - (3.18, 3.19)
58
BSCL2
Seipin



11q12-q13.5
Neuronopathy, distal hereditary motor, type V - HMN5 (12.15, 15.9)
Spastic paraplegia 17 - SPG17 (12.15, 15.9)
59
BVES
blood vessel epicardial substance



6q21
Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.44)
60
C10orf2
chromosome 10 open reading frame 2(M)



10q24.31
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.49, 16.18)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.49, 16.18)
61
C12orf65
adaptor-related protein complex 4, sigma 1 subunit(M)



12q24.31
Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)
62
C19orf12
chromosome 19 open reading frame 12(M)



19q12
Spastic paraplegia 43, autosomal recessive - SPG43 (15.38)
Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.38)
63
C9orf72
Chromosome 9 open reading frame 72



9p21.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.62)
64
CACNA1A
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



19p13.2-p13.1
Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.40, 13.45)
Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.40, 13.45)
Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.40, 13.45)
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.40, 13.45)
Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.40, 13.45)
65
CACNA1C
Calcium channel, voltage-dependent, L type, alpha 1C subunit



12p13.3
brugada syndrome 3 - (10.109, 10.136)
Timothy syndrome - LQT8 (10.109, 10.136)
66
CACNA1G
calcium voltage-gated channel subunit alpha1 G



17q21.33
Spinocerebellar ataxia 42 - SCA42 (13.38)
67
CACNA1S
Calcium channel, voltage-dependent, L type, alpha 1S subunit



1q32
Hypokalemic periodic paralysis - CACNL1A3 (3.45, 7.8, 8.5)
Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.45, 7.8, 8.5)
Malignant hyperthermia susceptibility 5 - MHS5 (3.45, 7.8, 8.5)
Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.45, 7.8, 8.5)
68
CACNB2
Calcium channel, voltage-dependent, beta 2 subunit



10p12
brugada syndrome 4 - (10.137)
69
CACNB4
Calcium channel, voltage-dependent, beta 4 subunit



2q22-q23
episodic ataxia type 5, included - EA5 (13.42)
70
CAPN1
Calpain 1



11q13.1
Spastic paraplegia 76, autosomal recessive - SPG76 (15.59)
71
CAPN3
Calpain 3



15q15.1-q21.1
Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.21)
72
CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (16.30)
73
CASQ2
Calsequestrin 2 (cardiac muscle)



1p13.3-p11
ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.92)
74
CAV3
Caveolin 3



3p25
Distal myopathy related to caveolin - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
cardiomyopathy, familial hypertrophic - CMH (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Creatine phosphokinase, elevated serum - CPK (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Rippling muscle disease - RMD2 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Long QT syndrome 9 - LQT9 (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
Hyperckemia, idiopathic - (1.15, 4.11, 5.20, 6.6, 6.7, 10.110, 10.16)
75
CCDC88C
Coiled-coil domain containing 88C



14q32.11
Spinocerebellar ataxia 40 - SCA40 (13.36)
76
CCT5
chaperonin containing TCP1 subunit 5



5p15.2
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.100)
77
CFL2
Cofilin 2 (muscle)



14q12
Nemaline myopathy - NEM7 (3.7)
78
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)
79
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



22q11.2-q13.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.32, 12.63, 16.29)
Mitochondrial myopathy - (12.32, 12.63, 16.29)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.32, 12.63, 16.29)
80
CHKB
Choline kinase beta



22q13
Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.42)
81
CHMP2B
Charged multivesicular body protein 2B



3p11.2
Amyotrophic lateral sclerosis 17 - ALS17 (12.55)
82
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)
83
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)
84
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)
85
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)
86
CHRNG
Cholinergic receptor, nicotinic, gamma polypeptide



2q33-q34
Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.21)
87
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)
88
CLN3
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



16p11.2
Autophagic vacuolar myopathy - (5.14)
89
CNBP
Cellular nucleic acid-binding protein



3q21.3
Proximal myotonic myopathy - PROMM (6.2)
Myotonic dystrophy, type 2 - DM2 (6.2)
90
CNTN1
Contactin-1



12q11-q12
congenital lethal myopathy - (3.42)
91
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)
92
COL13A1
collagen type XIII alpha 1 chain



10q22.1
Congenital myasthenic syndrome type 19 - CMS19 (11.29)
93
COL6A1
Alpha 1 type VI collagen



21q22.3
Bethlem myopathy - (2.2, 2.6)
Ullrich congenital muscular dystrophy - UCMD (2.2, 2.6)
94
COL6A2
Alpha 2 type VI collagen



21q22.3
myosclerosis, autosomal recessive - (2.3, 2.5, 2.7, 2.12)
Bethlem myopathy - (2.3, 2.5, 2.7, 2.12)
Ullrich scleroatonic muscular dystrophy - UCMD (2.3, 2.5, 2.7, 2.12)
95
COL6A3
Alpha 3 type VI collagen



2q37
Bethlem myopathy - (2.4, 2.8)
Ullrich congenital muscular dystrophy - UCMD (2.4, 2.8)
96
COLQ
Acetylcholinesterase collagen-like tail subunit



3p25
Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.13)
97
COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.27)
98
COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
CMT recessive intermediate D - CMTRID (14.74)
99
CPT2
Carnitine palmitoyltransferase II(M)



1p32
CPT deficiency, hepatic, type II - CPT2 (9.16)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.16)
Myopathy due to CPT II deficiency - CPT2 (9.16)
100
CRYAB
Crystallin, alpha B



11q22.3-q23.1
Dilated cardiomyopathy related to alpha-crystallin - (5.1, 10.54)
Myofibrillar myopathy, alpha-B crystallin related - (5.1, 10.54)
Myopathy, myofibrillar, 2 - MFM2 (5.1, 10.54)
101
CSRP3
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



11p15.1
Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.42)
Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.42)
102
CTDP1
CTD phosphatase subunit 1



18q23
congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.98)
103
CTNNA3
Catenin alpha 3



10q21.3
Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.90)
104
CYP2U1
cytochrome P450, family 2, subfamily U, polypeptide 1



4q25
Spastic paraplegia 56, autosomal recessive - SPG56 (15.51)
105
CYP7B1
Cytochrome P450, family 7, subfamily B, polypeptide 1



8p12-q13
Spastic paraplegia 5A - SPG5A (15.19)
106
DAG1
Dystroglycan1



3p21
Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC7 (1.36)
107
DCAF8
DDB1 and CUL4 associated factor 8



1q23.2
Giant axonal neuropathy 2 - GAN2 (14.97)
108
DCTN1
Dynactin 1



2p13
Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.18, 12.61)
Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.18, 12.61)
109
DDHD1
DDHD domain containing 1



14q21
Spastic paraplegia 20 - SPG28 (15.33)
110
DDHD2
DDHD domain containing 2



8p11.23
Spastic paraplegia 54, autosomal recessive - SPG54 (15.49)
111
DES
Desmin



2q35
Desmin-related myopathy - DRM (1.17, 1.38, 5.2, 10.38)
Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.17, 1.38, 5.2, 10.38)
Dilated cardiomyopathy, 1I - CMD1I (1.17, 1.38, 5.2, 10.38)
Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.17, 1.38, 5.2, 10.38)
Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.17, 1.38, 5.2, 10.38)
112
DGAT2
diacylglycerol O-acyltransferase 2



1q13.3
Early onset axonal neuropathy with sensory ataxia - (14.66)
113
DHTKD1
dehydrogenase E1 and transketolase domain containing 1



10p14
Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.56)
114
DMD
Dystrophin



Xp21.2
Duchenne muscular dystrophy - DMD (1.1, 10.58)
Becker muscular distrophy - BMD (1.1, 10.58)
Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.58)
Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.58)
115
DMPK
Myotonic dystrophy protein kinase



19q13.3
Myotonic dystrophy 1 - DM1 (6.1)
Dystrophia myotonica - DM (6.1)
Steinert disease - DM1 (6.1)
116
DNAJB2
DnaJ (Hsp40) homolog, subfamily B, member 2



2q32-q34
Spinal muscular atrophy, distal related to DNAJB2 - (12.22, 14.70)
Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.22, 14.70)
Autosomal recessive CMT2 related to DNAJB2 - (12.22, 14.70)
117
DNAJB6
HSP-40 homologue, subfamily B, number 6



7q36
Limb girdle muscular dystrophy 1D (autosomal dominant) - LGMD1D (1.16)
118
DNM2
Dynamin 2



19p13.2
centronuclear myopathy, dominant - CNM (2.16, 3.17, 4.14, 14.12)
119
DNMT1
DNA (cytosine-5)-methyltransferase 1



19p13.2
Neuropathy, hereditary sensory, type 1E - HSN1E (14.92)
Hereditary sensory neuropathy with dementia and hearing loss - (14.92)
120
DOK7
Docking protein 7



4p16.2
Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.15)
121
DOLK
Dolichol kinase



9q34.13
Dilated Cardiomyopathy related to DOLK - CDG1M (10.69)
122
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 (11.18)
123
DPM1
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



20q13.13
Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.34)
124
DPM2
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



9q34.13
Muscle dystrophy with congenital disorder of glycosylation - (2.35)
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.35)
125
DPM3
Dolichyl-phosphate mannosyltransferase polypeptide 3



1q22
Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.46)
126
DSC2
Desmocollin 2



18q12.1
Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.88)
127
DSG2
Desmoglein 2



18q12.1
Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.87)
128
DSP
Desmoplakin



6p24
Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.85)
129
DST
dystonin



6p12.1
Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.88)
130
DTNA
Dystrobrevin, alpha



18q12
Left ventricular noncompaction, familial isolated - LVNC (10.76)
Left ventricular noncompaction with congenital heart defects - (10.76)
131
DUX4
Double homeobox 4



4q35
Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
132
DYNC1H1
Dynein, cytoplasmic 1, heavy chain 1



14q32.31
Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.26, 14.54)
Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.26, 14.54)
133
DYSF
Dysferlin



2p12-14
Miyoshi myopathy - MM (1.22, 4.1)
Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.22, 4.1)
134
EEF2
Eukaryotic translation elongation factor 2



19p13.3
Spinocerebellar ataxia 26 - SCA26 (13.24)
135
EGR2
Early growth response 2 protein



10q21.1
Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.23, 14.38)
Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.23, 14.38)
Dejerine-Sottas neuropathy - DSN (14.4, 14.23, 14.38)
Neuropathy, congenital hypomyelinating - CHN (14.4, 14.23, 14.38)
136
ELOVL4
ELOVL fatty acid elongase 4



6q14.1
Spinocerebellar ataxia 34 - SCA34 (13.31)
137
ELOVL5
ELOVL fatty acid elongase 5



6p12.1
Spinocerebellar ataxia 38 - SCA38 (13.35)
138
EMD
Emerin



Xq28
Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
139
ENO3
Enolase 3, beta muscle specific



17pter-p11
Glycogen storage disease XIII - GSD13 (9.15)
Enolase deficiency - ENO3 (9.15)
140
ENTPD1
ectonucleoside triphosphate diphosphohydrolase 1



10q24.1
Spastic paraplegia 64, autosomal recessive - SPG64 (15.56)
141
ERBB3
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



12q13
Lethal congenital contracture syndrome 2 - LCCS2 (12.67)
142
ERLIN1
ER lipid raft associated 1 (Erlin-1)



10q24.31
Spastic paraplegia 62 autosomal recessive - SPG62 (15.54)
143
ERLIN2
ER lipid raft associated 2



8p12-p11.21
Spastic paraplegia 18 - SPG18 (15.25)
144
ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.19)
145
ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.20)
146
ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.21, 9.26)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.21, 9.26)
147
EXOSC3
Exosome component 3



9p13.2
Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.69)
148
EXOSC8
Exosome component 8



13q13.1
Spinal muscular atrophy and cerebellar hypoplasia - (12.33)
149
EYA4
Eyes absent 4



6q23-24
Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.39)
Cardiomyopathy, dilated, 1J - CMD1J (10.39)
150
FA2H
Fatty acid 2-hydroxylase



16q21-q23.1
Spastic paraplegia 35, autosomal recessive - SPG35 (15.36)
Dysmyelinating leukodystrophy - FAHN (15.36)
151
FAM111B
family with sequence similarity 111 member B



11q12.1
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.32)
152
FAM134B
family with sequence similarity 134 member B



5p15.1
Hereditary sensory neuropathy, type IIB - HSAN2B (14.82)
153
FARS2
Phenylalanine--tRNA ligase(M)



6p25.1
Spastic paraplegia 77, autosomal recessive - SPG77 (15.60)
154
FBLN5
Fibulin 5 (extra-cellular matrix)



14q32.12
Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.10)
155
FBXO38
F-box protein 38



5q32
Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.28)
156
FGD4
Actin-filament binding protein Frabin



12p11.21
Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.27)
157
FGF14
Fibroblast growth factor 14



13q34
Spinocerebellar ataxia 27 - SCA27 (13.25)
158
FHL1
Four and a half LIM domain 1



Xq26.3
Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 2.14, 5.21, 5.22, 5.23)
Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 2.14, 5.21, 5.22, 5.23)
X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 2.14, 5.21, 5.22, 5.23)
Myopathy, reducing body, X-linked, childhood-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
Rigid spine syndrome related to FHL1 - RSS (1.3, 2.14, 5.21, 5.22, 5.23)
Myopathy, reducing body, X-linked, severe early-onset - (1.3, 2.14, 5.21, 5.22, 5.23)
Rigid spine syndrome - RSMD1 (1.3, 2.14, 5.21, 5.22, 5.23)
159
FIG4
Sac domain-containing inositol phosphatase 3



6q21
charcot-marie-tooth disease, type 4j - CMT4J (12.49, 14.28)
Amyotrophic lateral sclerosis 11 - ALS11 (12.49, 14.28)
160
FKRP
Fukutin-related protein



19q13.32
Walker-Warburg syndrome - WWS (1.29, 2.23, 2.29, 2.32)
Muscle-eye-brain disease - MEB (1.29, 2.23, 2.29, 2.32)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.29, 2.23, 2.29, 2.32)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.29, 2.23, 2.29, 2.32)
Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.29, 2.23, 2.29, 2.32)
161
FKTN
Fukutin



9q31-q33
Walker-Warburg syndrome - WWS (1.33, 2.19, 2.20, 10.56)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.33, 2.19, 2.20, 10.56)
fukuyama congenital muscular dystrophy - FCMD (1.33, 2.19, 2.20, 10.56)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.33, 2.19, 2.20, 10.56)
Cardiomyopathy, dilated, 1X - CMD1X (1.33, 2.19, 2.20, 10.56)
Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.33, 2.19, 2.20, 10.56)
162
FLNA
Filamin A, alpha (actin binding protein 280)



Xq28
Myxomatous valvular dystrophy, X-ninked - XMVD (10.77)
cardiac valvular dysplasia, x-linked - CVD1 (10.77)
163
FLNC
Filamin C, gamma (actin-binding protein - 280)



7q32
Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.8)
Myopathy, distal, 4 - MPD4 (4.16, 5.8)
164
FUS
Fusion (involved in t(12;16) in malignant liposarcoma)



16q12
Amyotrophic lateral sclerosis - ALS6 (12.44)
165
FXN
Frataxin(M)



9q13-q21.1
Friedreich ataxia - FRDA (13.46)
Friedreich ataxia with retained reflexes - FARR (13.46)
166
GAA
Acid alpha-glucosidase preproprotein



17q25.2-q25.3
Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.42, 9.1, 10.74)
Glycogen storage disease II - GSDII (1.42, 9.1, 10.74)
167
GAN
Gigaxonin



16q24.1
Giant axonal neuropathy-1 - GAN1 (14.96)
168
GARS
Glycyl-tRNA synthetase



7p15
Neuropathy, distal hereditary motor type V - HMN V (12.14, 14.44)
Spinal muscular atrophy, distal, type V - DSMAV (12.14, 14.44)
Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.14, 14.44)
169
GATAD1
GATA zinc finger domain containing 1



7q21-q22
Cardiomyopathy, dilated, 2B - CMD2B (10.70)
Dilated cardiomyopathy realted to GATAD1 - (10.70)
170
GBA2
glucosidase, beta (bile acid) 2



9p13.3
Spastic paraplegia 46, autosomal recessive - SPG46 (15.41)
171
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)
172
GDAP1
Ganglioside-induced differentiation-associated protein 1



8q13-q21
Charcot-Marie-Tooth disease, type 4A - CMT4A (14.17, 14.51)
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.17, 14.51)
Charcot-Marie-Tooth disease, type 2K - CMT2K (14.17, 14.51)
173
GFPT1
Glutamine-fructose-6-phosphate transaminase 1



2p12-p15
Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.17)
174
GJA5
Connexin 40



1q21.1
atrial fibrillation, familial, 1 - ATFB1 (10.129, 10.130)
175
GJB1
Gap junction protein, beta 1, 32kDa (connexin 32)



Xq13.1
Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.30, 14.38)
176
GJB3
Gap junction protein, beta 3, 31kDa (=connexin 31)



1p34.3
Peripheral neuropathy and deafness, autosomal dominant - (14.94)
177
GJC2
gap junction protein, gamma 2, 47kDa



1q42.13
Spastic paraplegia 44, autosomal recessive - SPG44 (15.39)
178
GLE1
GLE1 RNA export mediator homolog (yeast)



9q34.11
Lethal congenital contracture syndrome 1 - LCCS1 (12.66)
179
GMPPB
GDP-mannose pyrophosphorylase B



3p21.31
Muscle-eye-brain disease - MDDGA14 (1.40, 2.31, 2.38, 11.32)
Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.40, 2.31, 2.38, 11.32)
Congenital Myasthenic syndrome related to GMPPB - (1.40, 2.31, 2.38, 11.32)
180
GNB4
Guanine nucleotidebinding protein, beta-4



3q28-q29
Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.16)
181
GNE
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



9p13.3
Nonaka myopathy - NM (4.3)
Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
182
GOLGA2
golgin A2



9q34.113
GOLGA2-related congenital muscle dystrophy with brain involvement - (2.46)
183
GPD1L
Glycerol-3-phosphate dehydrogenase 1-like



3p22.3
brugada syndrome 2 - (10.135)
184
GYG1
Glycogenin 1



3q24
Glycogen storage disease XV - GSD15 (9.8)
185
GYS1
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



19q13.3
glycogen storage disease type 0 - GSD0b (9.9)
186
HARS
histidyl-tRNA synthetase



5q31.3
Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.60)
187
HCN4
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



15q24.1
Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.142)
familial sinusal bradycardia - FSBD (10.142)
188
HEXB
Hexosaminidase B



5q13.3
Late onset spinal muscular atrophy related to HEXB - (12.73)
189
HINT1
Histidine triad nucleotide binding protein 1



5q23.3
Axonal neuropathy with myotonia - NMAN (14.71)
190
HK1
Hexokinase 1(M)



10q22.1
Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.26)
191
HNRNPA1
heterogeneous nuclear ribonucleoprotein A1



12q13.13
Isolated inclusion body myopathy - IBMPFD3 (3.35, 12.57)
Amyotrophic lateral sclerosis 20 - ALS20 (3.35, 12.57)
192
HNRNPDL
Heterogeneous nuclear ribonucleoprotein D-like



4q21
Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.19)
193
HOXD10
Homeobox D10



2q31.1
Charcot-Marie-Tooth disease, congenital, vertical talus - (14.8)
194
HSPB1
Heat shock 27kDa protein 1



7q11.23
Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.11, 14.46)
Neuropathy, distal hereditary motor, type IIB - HMN2B (12.11, 14.46)
195
HSPB3
Heat shock 27kDa protein 3



5q11.2
neuronopathy, distal hereditary motor, type IIC - HMN2C (12.12)
196
HSPB8
Heat shock 27kDa protein 8



12q24.23
Neuropathy, distal hereditary motor, type II - HMN2A (12.10, 14.52)
Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (12.10, 14.52)
197
HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
Spastic paraplegia 13 - SPG13 (15.8)
198
HSPG2
Perlecan



1p36.1-p34
Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
199
IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
Spastic paraplegia 74, autosomal recessive - SPG74 (15.57)
200
IFRD1
Interferon-related developmental regulator 1



7q22-q32
Spinocerebellar ataxia 18 - SCA18 (13.16)
201
IGHMBP2
Immunoglobulin mu binding protein 2



11q13.2-q13.4
Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.75)
Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.75)
202
IKBKAP
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



9q31-q33
Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.85, 16.3)
Familial dysautonomia (Riley-Day syndrome) - (14.85, 16.3)
203
ILK
Integrin-linked kinase



11p15.5-p15.4
Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.60)
204
INF2
Inverted formin 2



14q32-33
Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.15)
205
ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
myopathy with exercise intolerance, swedish type - (5.26)
myopathy with deficiency of succinate dehydrogenase and aconitase - (5.26)
myopathy with lactic acidosis, hereditary - HML (5.26)
206
ISPD
Isoprenoid synthase domain containing



7p21.2
Walker-Warburg syndrome - WWS (1.41, 2.25)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 (1.41, 2.25)
207
ITGA7
Integrin alpha 7 precursor



12q13
Congenital muscular dystrophy with integrin defect - (2.15)
Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.15)
208
ITPR1
Inositol 1,4,5-triphosphate receptor type 1



3p26.1-p25.3
Spinocerebellar ataxia 15 - SCA15 (13.14)
209
JPH2
Junctophilin-2



20q13.12
Hypertrophic cardiomyopathy related to junctophilin - (10.18)
Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18)
210
JUP
Junction plakoglobin



17q21
arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.89, 10.93)
naxos disease - (10.89, 10.93)
211
KARS
Lysyl-tRNA synthetase



16q23.1
Axonal neuropathy recessive - CMTRIB (14.72)
212
KBTBD13
Kelch repeat and BTB (POZ) domain containing 13



15q22.31
Nemaline myopathy 6 - NEM6 (3.6)
213
KCNA1
Potassium voltage-gated channel, shaker-related subfamily, member 1



12p13
Episodic ataxia with myokymia - EA1 (7.12, 13.34)
214
KCNA5
Potassium voltage-gated channel, shaker-related subfamily, member 5



12p13
atrial fibrillation, familial - ATFB7 (10.126)
215
KCNC3
Potassium voltage-gated channel, Shaw-related subfamily, member 3



19q13.3-q13.4
Spinocerebellar ataxia 13 - SCA13 (13.12)
216
KCND3
Potassium voltage-gated channel, Shal-related subfamily, member 3



1p13.2
Spinocerebellar ataxia 19 - SCA19 (13.17)
217
KCNE1
Potassium voltage-gated channel, Isk-related family, member 1



21q22.1-q22.2
Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.106)
Long QT syndrome-5 - LQT5 (7.19, 10.106)
218
KCNE2
Potassium voltage-gated channel, Isk-related family, member 2



21q22.12
Atrial fibrillation, 4 - ATFB4 (7.18, 10.107, 10.119, 10.123)
Long QT syndrome-6 - LQT6 (7.18, 10.107, 10.119, 10.123)
219
KCNE3
Potassium voltage-gated channel, Isk-related family, member 3



11q13-q14
Brugada syndrome 6 - BRGDA6 (7.11, 10.139)
Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11, 10.139)
220
KCNH2
Voltage-gated potassium channel, subfamily H, member 2



7q35-q36
Short qt syndrome 1 - SQT1 (7.15, 10.103, 10.115)
Long QT syndrome-2 - LQT2 (7.15, 10.103, 10.115)
221
KCNJ18
Kir2.6 (inwardly rectifying potassium channel 2.6)



17p11.2
Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
222
KCNJ2
Potassium inwardly-rectifying channel J2



17q23
Long QT syndrome-7 - LQT7 (7.14, 10.108, 10.117, 10.128)
Atrial fibrillation, 9 - ATFB9 (7.14, 10.108, 10.117, 10.128)
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.108, 10.117, 10.128)
223
KCNJ5
Potassium inwardly-rectifying channel, subfamily J, member 5



11 q24.3
Long QT syndrome 13 - LQT13 (10.114)
224
KCNQ1
Potassium voltage-gated channel, KQT-like subfamily, member 1



11p15.5
Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
Romano-Ward syndrome - RWS (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.102, 10.116, 10.118, 10.122)
225
KIAA0196
Strumpellin



8q24.13
Spastic paraplegia 8 - SPG8 (15.4)
226
KIF1A
Kinesin family member 1A



2q37.3
Neuropathy, hereditary sensory, type IIC - HSN2C (14.83, 15.34)
Spastic paraplegia 30 - SPG30 (14.83, 15.34)
227
KIF1B
Kinesin family member 1B(M)



1p36.2
Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.40)
228
KIF1C
kinesin family member 1C



17p13.2
ataxia, spastic, 2, autosomal recessive - SPAX2 (15.68)
229
KIF21A
Kinesin family member 21A



12q12
Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
230
KIF5A
Kinesin family member 5A



12q13.13
Spastic paraplegia 10 - SPG10 (14.65, 15.6)
CMT2 related to KIF5A - (14.65, 15.6)
231
KLHL40
Kelch-like family member 40



2p22.1
Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
232
KLHL41
Kelch-like family member 41



2q31.1
Nemaline myopathy - NEM9 (3.9)
233
KLHL9
Kelch-like homologue 9



9p21.2-p22.3
Early onset distal myopathy with KLHL9 mutations - (4.15)
234
KY
Kyphoscoliosis peptidase



3q22.2
Myopathy microfibrillar type 7 - MFM7 (5.11)
235
L1CAM
L1 cell adhesion molecule



Xq28
CRASH syndrome - L1CAM (15.63)
CRASH syndrome - HSAS (15.63)
MASA syndrome - L1CAM (15.63)
Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.63)
236
LAMA2
Laminin alpha 2 chain of merosin



6q22-q23
Muscular dystrophy, congenital merosin-deficient - MDC1A (2.1)
237
LAMA4
Laminin alpha 4



6q21
Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.59)
238
LAMB2
Laminin, beta 2 (laminin S)



3p21
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.19)
239
LAMP2
Lysosomal-associated membrane protein 2 precursor



Xq24
Danon disease - (5.12)
Glycogen storage disease IIb - GSD2B (5.12)
240
LARGE
Like-glycosyltransferase



22q12.3-q13.1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.33)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.33)
241
LDB3
LIM domain binding 3



10q22
myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.4, 10.33)
cardiomyopathy, dilated 1C - CMD1C (4.12, 5.4, 10.33)
242
LDHA
Lactate dehydrogenase A



11p15.4
Glycogen storage disease XI - GSD11 (9.14)
Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.14)
243
LIMS2
LIM and senescent cell antigen-like domains 2



2q14.3
Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.43)
244
LITAF
Lipopolysaccharide-induced TNF factor



16p13.3-p12
Hereditary motor and sensory, type 1C - CMT1C (14.3)
245
LMNA
Lamin A/C



1q22
Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
restrictive dermopathy - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.14, 2.18, 10.30, 14.68)
246
LMOD3
Leiomodin 3 (fetal)



3p14.1
Nemaline myopathy - NEM10 (3.10)
247
LPIN1
Lipin 1 (phosphatidic acid phosphatase 1)



2p25.1
Reccurrent myoglobinuria, autosomal recessive - (9.27)
248
LRP4
LDL receptor related protein 4



11p11.2
Congenital myasthenic syndrome - CMS17 (11.27)
249
LRSAM1
leucine rich repeat and sterile alpha motif containing 1



9q33.3
Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.55)
250
MAG
myelin associated glycoprotein



19q13.12
Spastic paraplegia 75, autosomal recessive - SPG75 (15.58)
251
MARS
methionyl-tRNA synthetase



12q13.3
Charcot-Marie-Tooth 2 - (14.64)
252
MARS2
methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.69)
253
MATR3
Matrin 3



5q31
Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.58)
Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.58)
254
MED25
Mediator complex subunit 25



19q13
Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.69)
255
MEGF10
Multiple EGF-like-domains 10



5q23.2
Recessive congenital myopathy with minicores - (3.27, 3.28)
Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.27, 3.28)
256
MFN2
Mitofusin 2(M)



1p36.22
Hereditary motor and sensory neuropathy 2A - CMT2A (14.41)
257
MME
membrane metallo-endopeptidase



3q25.2
Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.58)
Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.58)
258
MORC2
MORC family CW-type zinc finger 2



2q12.2
Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.62)
259
MPZ
Myelin protein zero



1q22
Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
Dejerine-Sottas syndrome - DSSA (14.2, 14.14, 14.24, 14.37, 14.49, 14.50)
260
MRE11A
MRE11 meiotic recombination 11 homolog A



11q21
ataxia telangiectasia-like disorder - ATLD (13.64)
261
MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.26)
262
MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.29)
263
MSTN
Myostatin



2q32.2
Muscle hypertrophy - MSLHP (5.18)
264
MTM1
Myotubularin



Xq28
Myotubular myopathy, X-linked - MTM1 (3.16)
265
MTMR2
Myotubularin-related protein 2



11q22
Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.18)
266
MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.28)
267
MTPAP
mitochondrial poly(A) polymerase(M)



10p12.1
Spastic ataxia 4 autosomal recessive - SPAX4 (15.70)
268
MURC
Muscle-related coiled-coil protein



9q31.1
Dilated cardiomyopathy related to MURC - (10.68)
269
MUSK
muscle, skeletal, receptor tyrosine kinase



9q31.3-q32
Congenital myasthenic syndrome related to MuSK - CMS1B (11.14)
270
MYBPC3
Cardiac myosin binding protein-C



11p11.2
Cardimyopathy, dilated, 1A - CMD1A (3.41, 10.4, 10.55)
Dilated cardiomyopathy related to MYBPC3 - (3.41, 10.4, 10.55)
congenital skeletal myopathy and fatal cardiomyopathy - (3.41, 10.4, 10.55)
Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.41, 10.4, 10.55)
271
MYH2
Myosin, heavy polypeptide 2, skeletal muscle



17p13.1
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.32, 3.33, 3.34)
Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.32, 3.33, 3.34)
272
MYH3
Myosine, heavy chain 3, skeletal muscle, embryonic



17p13
Arthrogryposis, distal, type 2A - DA2A (16.9, 16.12)
Arthrogryposis, distal, type 2B - DA2B (16.9, 16.12)
273
MYH6
Myosin heavy chain 6



14q12
Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.65)
Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.65)
Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.65)
274
MYH7
Myosin, heavy polypeptide 7, cardiac muscle, beta



14q12
Cardiomyopathy, dilated, 1S - CMD1S (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
myopathy, congenital, with fiber-type disproportion - CFTD (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
Myopathy, distal 1 - MPD1 (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
Myosin storage myopathy - (3.15, 3.30, 3.31, 4.4, 10.1, 10.48)
275
MYH8
Myosin heavy chain, 8, skeletal muscle, perinatal



17p13
Myosin, heavy chain, perinatal - MYH8 (16.15)
276
MYL2
Myosin light chain 2



12q23-q24.3
Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 (10.9)
277
MYL3
Myosin light chain 3



3p21.3-p21.2
Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
278
MYLK2
Myosin light chain kinase 2



20q13.31
cardiomyopathy, familial hypertrophic - CMH (10.15)
279
MYO9A
myosin IXA



15q23
Congenital Myasthenia - (11.31)
280
MYOT
Myotilin



5q31
Myofibrillar myopathy, myotilin related - MFM3 (1.13, 4.9, 5.6, 5.7)
Spheroid body myopathy - (1.13, 4.9, 5.6, 5.7)
Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.13, 4.9, 5.6, 5.7)
281
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)
282
MYPN
Myopalladin



10q21.1
Dilated cardiomyopathy related to myopalladin - (10.61)
283
NAGLU
N-acetyl-alpha-glucosaminidase



17q21.2
Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.59)
284
NDRG1
N-myc downstream regulated gene 1



8q24.3
Charcot-Marie-Tooth disease, type 4D - CMT4D (14.22, 14.91)
Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.22, 14.91)
Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.22, 14.91)
285
NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
patient with HCM and isolated respiratory complex I deficiency - (10.23)
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.23)
286
NEB
Nebulin



2q22
Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.10)
287
NEFH
Neurofilament, heavy polypeptide



22q12.2
Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.59)
288
NEFL
Neurofilament, light polypeptide 68kDa



8p21
Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.45)
Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.45)
289
NEXN
Nexilin(F-actin binding protein)



1p32-p31
Hypertrophic cardiomyopathy related to nexilin - (10.20, 10.66)
Cardiomyopathy, familial hypertrophic 20 - CMH20 (10.20, 10.66)
Cardiomyopathy, dilated, 1CC - CMD1CC (10.20, 10.66)
290
NGF
Nerve growth factor (beta polypeptide)



1p13.1
neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.87)
291
NIPA1
Non-imprinted in Prader-Willi/Angelman syndrome 1



15q11.2
Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
292
NOP56
NOP56 ribonucleoprotein



20p13
Spinocerebellar ataxia 31 - SCA36 (13.33)
293
NPPA
Natriuretic peptide precursor A



1p36
atrial fibrillation, familial, 6 - ATFB6 (10.125)
294
NT5C2
5'-nucleotidase, cytosolic II



10q24-q32
Spastic paraplegia 45, autosomal recessive - SPG45 (15.40)
295
NTRK1
neurotrophic receptor tyrosine kinase 1



1biq23.1
Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.86)
296
NUP155
Nucleoporin 155 kDa



5p13.2
Atrial fibrillation, 15 - ATFB15 (10.133)
297
OPA1
optic atrophy 1(M)



3q28-q29
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de - (16.25)
298
OPTN
Optineurin



10p14
Amyotrophic lateral sclerosis 12 - ALS12 (12.50)
299
ORAI1
ORAI calcium release-activated calcium modulator 1



12q24.31
Tubular aggregate myopathy 2 - TAM2 (16.27)
300
PABPN1
Poly(A) binding protein, nuclear 1



14q11.2-q13
Oculopharyngeal muscular dystorphy - OPMD (5.15)
301
PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
Charcot-Marie-Tooth neuropathy X-linked 6 - (14.35)
302
PDYN
prodynorphin



20p13-p12-3
Spinocerebellar ataxia 23 - SCA23 (13.21)
303
PEX7
Peroxisomal biogenesis factor 7



6q21-q22
Refsum disease, adult - RD (13.67)
304
PFKM
Phosphofructokinase, muscle



12q13.3
Glycogen storage disease VII - PFKM (9.5)
305
PFN1
Profilin 1



17p13.2
Amyotrophic lateral sclerosis 18 - ALS18 (12.56)
306
PGAM2
Phosphoglycerate mutase 2 (muscle)



7p13-p12
Glycogen storage disease X - GSD10 (9.13)
Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.13)
307
PGK1
Phosphoglycerate kinase 1



Xq13
posphoglycerate kinase deficiency - (9.12)
308
PGM1
Phosphoglucomutase 1



1p31
Glycogen storage disease XIV - GSD14 (9.7)
309
PHKA1
Phosphorylase b kinase, alpha submit



Xq13
glycogen storage disease, type IXD - GSD9D (9.6)
310
PHOX2A
Paired-like aristaless homeobox protein 2A



11q13.2
Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
311
PHYH
Phytanoyl-CoA 2-hydroxylase



10q13
Refsum disease, adult - RD (13.66)
312
PIP5K1C
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



19p13.3
Lethal congenital contractural syndrome 3 - LCCS3 (12.68)
313
PKP2
Plakophilin 2



12p11
Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.86)
314
PLEC
plectin



8q24.3
Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.37, 1.48, 5.17, 11.22)
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.37, 1.48, 5.17, 11.22)
Myasthenic syndrome, with plectin defect - (1.37, 1.48, 5.17, 11.22)
Limb girdle muscular dystrophy with ophthalmoplegia - (1.37, 1.48, 5.17, 11.22)
315
PLEKHG5
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



1p36
spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.73)
Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.73)
316
PLN
Phospholamban



6q22.1
Hypertrophic cardiomyopathy related to phospholamban - (10.19, 10.45)
Cardiomyopathy, familial hypertrophic, 18 - CMH18 (10.19, 10.45)
Cardiomyopathy, dilated, 1P - CMD1P (10.19, 10.45)
317
PLP1
Proteolipid protein 1



Xq22
Spastic paraplegia 2 - SPG2 (15.64)
318
PMP2
peripheral myelin protein-2



8q21.13
charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA (14.11)
319
PMP22
Peripheral myelin protein 22



17p12-p11.2
Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.36)
Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.36)
Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.36)
Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.36)
320
PNKP
polynucleotide kinase 3’-phosphatase



19q13.33
Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.67)
321
PNPLA2
Adipose triglyceride lipase (desnutrin)



1p15.5
Neutral lipid storage disease without ichthyosis - NLSDM (9.25)
322
PNPLA6
Patatin-like phospholipase domain containing 6



19p13.3-p13.2
Spastic paraplegia 39, autosomal recessive - SPG39 (15.37)
323
PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.28)
324
POLG
Polymerase (DNA directed), gamma(M)



15q25
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.62, 16.16)
spinocerebellar ataxia with epilepsy, included - SCAE (13.62, 16.16)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.62, 16.16)
325
POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)
326
POMGNT1
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



1p34.1
Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.35, 2.24, 2.28)
Walker-Warburg syndrome - WWS (1.35, 2.24, 2.28)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.35, 2.24, 2.28)
Muscle-eye-brain disease - MEB (1.35, 2.24, 2.28)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.35, 2.24, 2.28)
327
POMGNT2
protein O-linked mannose N-acetylglucosaminyltransferase 2



3p22.1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (2.26)
Walker-Warburg syndrome - WWS (2.26)
328
POMK
Protein-O-mannose kinase



8p11.21
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (2.40)
329
POMT1
Protein-O-mannosyltransferase 1



9q34.1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.31, 2.21)
Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.31, 2.21)
Walker-Warburg syndrome - WWS (1.31, 2.21)
330
POMT2
Protein-O-mannosyltransferase 2



14q24.3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.34, 2.22, 2.30)
Walker-Warburg syndrome - WWS (1.34, 2.22, 2.30)
Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.34, 2.22, 2.30)
Muscle-eye-brain disease - MEB (1.34, 2.22, 2.30)
331
PPP2R2B
Protein phosphatase 2 regulatory subunit B, beta isoform



5q31-5q32
Spinocerebellar ataxia 12 - SCA12 (13.11)
332
PRDM12
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



9q34.12
Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.90)
333
PREPL
Prolyl endopeptidase-like



2p22.1
Congenital myasthenic syndrome related to PREPL deficiency - (11.26)
334
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)
335
PRKCG
Protein kinase C, gamma



19q13.4
Spinocerebellar ataxia 14 - SCA14 (13.13)
336
PRPH
Peripherin



12q13.12
Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.60)
337
PRPS1
Phosphoribosyl pyrophosphate synthetase 1



Xq21.32-q24
charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.34)
338
PRX
Periaxin



19q13
Charcot-Marie-Tooth disease, type 4F - CMT4F (14.25, 14.39)
Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.25, 14.39)
339
PSEN2
Presenilin 2



1q42.13
Cardiomyopathy, dilated, 1W - CMD1U (10.50)
340
PTPLA
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



10p12.33
Congenital myopathy related to PTPLA - (3.44)
341
PTRF
Polymerase I and transcript release factor(M)



17q21-q23
lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
342
PUS1
Pseudouridylate synthase 1(M)



12q24.33
Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.28)
343
PYGM
Glycogen phosphorylase



11q12-q13.2
McArdle disease - PYGM (9.4)
344
PYRODX1
Pyridine nucleotidedisulphide oxidoreductase domain 1



12p12.1
Early-onset myofibrillar myopathy with PYRODX1 defect - (5.28)
345
RAB7A
RAB7, member RAS oncogene family



3q21
Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.42)
346
RAPSN
Rapsyn



11p11.2-p11.1
Myasthenic syndrome, congenital - CMS1D (11.11)
347
RBCK1
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



20p13
Polyglucosan storage myopathy - (9.11)
348
RBM20
RNA binding motif protein 20



10q25.3
Cardiomyopathy, dilated, 1DD - CMD1DD (10.62)
349
RBM7
RNA binding motif protein 7



11q23.2
Spinal motor neuropathy - (12.23)
350
REEP1
Receptor accessory protein 1(M)



2p11.2
Distal spinal muscular atrophy, type VB - DSMAVB (12.16, 15.12)
Spastic paraplegia 31 - SPG31 (12.16, 15.12)
351
RNF216
Ring finger protein 216



7p22.1
Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.68)
352
RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)
353
RTN2
Reticulon 2



19q13
Spastic paraplegia 12 - SPG12 (15.7)
354
RYR1
Ryanodine receptor 1 (skeletal)



19q13.1
centronuclear myopathy, recessive - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
minicore myopathy with external ophthalmoplegia - (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
myopathy, congenital, with fiber-type disproportion - CFTD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
Malignant hyperthermia susceptibility 1 - MHS1 (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
Central core disease - CCD (3.14, 3.20, 3.23, 3.24, 3.25, 3.39, 5.27, 8.1)
355
RYR2
Ryanodine receptor 2



1q42.1-q43
Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.80, 10.91)
Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.80, 10.91)
Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.80, 10.91)
Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.80, 10.91)
356
SACS
Sacsin



13q12
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.65, 15.72)
Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type - SPAX6 (13.65, 15.72)
357
SBF1
SET binding factor 1



22q13.33
Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.20)
358
SBF2
SET binding factor 2



11p15.4
charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.19)
359
SCN11A
sodium voltage-gated channel alpha subunit 11



3p22.2
Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.89)
360
SCN1B
Sodium channel, voltage-gated, type I, beta subunit



19q13.12
Atrial fibrillation, 13 - ATFB13 (10.131, 10.138)
Brugada syndrome 5 - BRGDA5 (10.131, 10.138)
361
SCN2B
Sodium channel, voltage-gated, type II, beta subunit



11q23.3
Atrial fibrillation, 14 - ATFB14 (10.132)
362
SCN3B
Sodium channel, voltage-gated, type III, beta subunit



11 q24.1
Brugada syndrome 7 - BRGDA7 (10.140)
363
SCN4A
Sodium channel, voltage-gated, type IV, alpha



17q23-q25.3
Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.20)
Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.20)
Sodium-channel myasthenia - (7.3, 7.4, 7.5, 7.6, 11.20)
Myasthenic syndrome, acetazolamide-responsive - (7.3, 7.4, 7.5, 7.6, 11.20)
Hyperkalemic periodic paralysis, type 2 - HOKPP2 (7.3, 7.4, 7.5, 7.6, 11.20)
Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.20)
Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.20)
364
SCN4B
Sodium channel, voltage-gated, type IV, beta subunit



11q23.3
Long QT syndrome 10 - LQT10 (10.111)
365
SCN5A
Voltage-gated sodium channel type V alpha



3p21
Progressive familial heart block, type I - PFHBI (7.7, 10.104, 10.134, 10.141, 10.35)
Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.104, 10.134, 10.141, 10.35)
Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.104, 10.134, 10.141, 10.35)
Ventricular fibrillation, idiopathic - IVF (7.7, 10.104, 10.134, 10.141, 10.35)
Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.104, 10.134, 10.141, 10.35)
Hereditary bundle branch system defect - HBBD (7.7, 10.104, 10.134, 10.141, 10.35)
Cardiac conduction defect, progressive - PCCD (7.7, 10.104, 10.134, 10.141, 10.35)
Brugada syndrome - SCN5A (7.7, 10.104, 10.134, 10.141, 10.35)
Long QT syndrome-3 - LQT3 (7.7, 10.104, 10.134, 10.141, 10.35)
366
SCN9A
sodium voltage-gated channel alpha subunit 9



2q24.3
Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.84)
367
SDHA
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
Recessive neonatal isolated DC - (10.71)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)
368
SEPN1
Selenoprotein N1



1p36.13
Multiminicore disease, classical form - (2.13, 3.12, 3.26, 5.3)
myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.12, 3.26, 5.3)
Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.12, 3.26, 5.3)
Rigid spine syndrome - RSMD1 (2.13, 3.12, 3.26, 5.3)
Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.12, 3.26, 5.3)
Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.12, 3.26, 5.3)
369
SEPT9
Septin 9



17q25
Familial brachial plexus neuropathy - HNA (14.95)
370
SETX
Senataxin



9q34.13
ATAXIA-oculomotor apraxia 2 - AOA2 (12.40, 13.51)
Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.40, 13.51)
Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.40, 13.51)
371
SGCA
Alpha sarcoglycan



17q21
Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.24)
372
SGCB
Beta sarcoglycan



4q12
Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.25)
373
SGCD
Delta-sarcoglycan



5q33-q34
Dilated Cardiomyopathy, 1L - CMD1L (1.26, 10.41)
Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.26, 10.41)
374
SGCE
Sarcoglycan, epsilon



7q21-q22
Myoclonus-dystonia syndrome - DYT11 (16.2)
375
SGCG
Gamma sarcoglycan



13q12
Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.23)
376
SH3TC2
KIAA1985 protein



5q32
Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.21)
377
SIGMAR1
Sigma non-opioid intracellular receptor 1



9p13.3
Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.54)
378
SIL1
SIL1 homolog, endoplasmic reticulum chaperone



5q31
Marinesco-Sjogren syndrome - MSS (13.61)
379
SLC12A6
Potassium chloride cotransporter KCC3



15q13-q15
Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.93)
Charlevoix disease - SLC12A6 (14.93)
Andermann syndrome - SLC12A6 (14.93)
380
SLC1A3
EAAT1 (excitatory amino acid transporter type 1)



5p13
episodic ataxia type 6 - EA6 (13.43)
381
SLC22A5
Solute carrier family 22 member 5



5q31
Carnitine deficiency, systemic primary - CDSP (9.17)
382
SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
Carnitine-acylcarnitine translocase deficiency - CACT (9.18)
383
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)
384
SLC25A42
solute carrier family 25 member 42(M)



19p13.11
Mitochondrial myopathy - (16.24)
385
SLC33A1
Solute carrier family 33 (acetyl- CoA transporter)



3q25.3
Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
386
SLC52A2
Solute carrier family 52, riboflavin transporter, member 2



8q24
Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.72)
387
SLC52A3
Solute carrier family 52, riboflavin transporter, member 3



20p13
Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.71)
388
SLC5A7
Solute carrier family 5 (sodium/choline cotransporter), member 7



2q12.31
Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.30, 12.17)
Congenital myasthenic syndrome with episodic apnea - CMS20 (11.30, 12.17)
389
SMCHD1
Structural maintenance of chromosomes flexible hinge domain containing 1



18p11.32
Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
390
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)
391
SNAP25
synaptosome associated protein 25



20p12.2
Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.28)
392
SNTA1
Syntrophin, alpha 1



20q11.21
Long QT syndrome 12 - LQT12 (10.113)
393
SOD1
Superoxide dismutase 1, soluble



21q22.1
Amyotrophic lateral sclerosis 1 - ALS1 (12.36, 12.37)
Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.36, 12.37)
394
SPAST
Spastin



2p24-p21
Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
Spastic paraplegia 4 - SPG4 (15.2)
395
SPEG
SPEG complex locus



2q35
Centronuclear myopathy with dilated cardiomyopathy - (3.22)
396
SPG11
Spatacsin



15q21.1
Spastic paraplegia 11 - SPG11 (12.41, 14.61, 15.22)
Amyotrophic lateral sclerosis 5 - ALS5 (12.41, 14.61, 15.22)
Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.41, 14.61, 15.22)
397
SPG20
Spartin



13q12.3
Spastic paraplegia 20 - SPG20 (15.26)
398
SPG21
Maspardin



15q21-q22
Spastic paraplegia 20 - SPG21 (15.27)
399
SPG7
Paraplegin(M)



16q24.3
Spastic paraplegia 7 - SPG7 (15.20)
400
SPTBN2
Spectrin, beta, non-erythrocytic 2



11q13
Spinocerebellar ataxia 5 - SCA5 (13.5)
401
SPTLC1
Serine palmitoyltransferase subunit 1



9q22.2
Neuropathy, hereditary sensory, type 1 - HSN1 (14.76)
Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.76)
402
SPTLC2
Serine palmitoyltransferase long chain base subunit 2



14q24.3
Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.78)
403
SQSTM1
Sequestosome 1



5q35.3
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (12.64)
404
STIM1
Stromal interaction molecule 1



11p15.4
Tubular aggregate myopathy 1 - TAM1 (16.26)
405
STUB1
STIP1 homology and U-box containing protein 1



16p13.3
Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.59)
406
SUCLA2
Succinate-CoA ligase, ADP-forming, beta subunit(M)



13q12.2-q13.3
Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)
407
SURF1
surfeit 1(M)



9q34.2
Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.29)
408
SYNE1
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



6q25
Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.67, 13.57, 16.14)
Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.67, 13.57, 16.14)
Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.67, 13.57, 16.14)
409
SYNE2
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



14q23.2
Nesprin-2 related muscular dystrophy - EDMD (1.7)
410
SYT2
Synaptotagmin II



1q32.1
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.25)
411
TARDBP
TAR DNA binding protein



1p36.2
amyotrophic lateral sclerosis 10 - ALS10 (12.48)
412
TAZ
Tafazzin



Xq28
Barth syndrome - BTHS (10.57, 10.75)
Endocardial fibroelastosis-2 - G4.5 (10.57, 10.75)
Noncompaction of left ventricular myocardium, isolated - INVM (10.57, 10.75)
Cardiomyopathy, X-linked dilated - CMD3A (10.57, 10.75)
413
TBP
TATA box binding protein



6q27
Spinocerebellar ataxia 17 - SCA17 (13.15)
414
TCAP
Telethonin



17q12
Dilated cardiomyopathy, 1N - (1.27, 2.17, 10.43)
Congenital musuclar dystrophy with telethonin defect - (1.27, 2.17, 10.43)
Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.27, 2.17, 10.43)
415
TDP1
Tyrosyl-DNA phosphodiesterase 1



14q31-q32
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.60)
416
TECPR2
tectonin beta-propeller repeat containing 2



14q32
Spastic paraplegia 49, autosomal recessive - SPG49 (15.44)
417
TFG
TRK-fused gene



3q13
Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.63, 15.52)
Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.63, 15.52)
Spastic paraplegia 57, autosomal recessive - SPG57 (14.63, 15.52)
418
TGFB3
Transforming growth factor, beta 3



14q24.3
Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.79)
Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.79)
419
TGM6
Transglutaminase 6



20p13
Spinocerebellar ataxia 35 - SCA35 (13.32)
420
TIA1
Cytotoxic granuleassociated RNA binding protein



2p13
Welander distal myopathy - WDM (4.7)
421
TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.21)
422
TMEM240
transmembrane protein 240



1p36.33
Spinocerebellar ataxia 19 - SCA21 (13.19)
423
TMEM43
Transmembrane protein 43



3p25.1
luma related muscular dystrophy - (1.8, 10.83)
arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.83)
Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.83)
424
TMEM5
Transmembrane protein 5



12q14.2
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
425
TMPO
Lamina-associated polypeptide 2



12q22
Cardiomyopathy, dilated, 1T - CMT1T (10.49)
426
TNNC1
Slow troponin C



3p21.3-p14.3
Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.53)
Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.53)
427
TNNI2
Troponin I, type 2



11p15.5
Arthrogryposis, distal, type 2B - DA2B (16.10)
428
TNNI3
Troponin I, cardiac



19q13.4
Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.64, 10.72)
Cardiomyopathy, familial restrictive - RCM (10.6, 10.64, 10.72)
429
TNNT1
Slow troponin T



19q13.4
Nemaline myopathy 5 - NEM5 (3.5)
430
TNNT2
Troponin T2, cardiac



1q32
Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.34)
Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.34)
431
TNNT3
Troponin T3, skeletal



11p15.5
Arthrogryposis, distal, type 2B - DA2B (16.11)
432
TNPO3
Transportin 3



7q32.1-q32.2
Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18)
433
TOR1A
Torsin A



9q34
Torsion dystonia, early onset - EOTD (16.1)
434
TOR1AIP1
Torsin A interacting protein 1



1q25.2
LAP1B related muscular dystrophy - (1.9, 1.45)
Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.45)
435
TPM1
Tropomyosin 1 (alpha)



15q22
Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.52)
Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.52)
436
TPM2
Tropomyosin 2 (beta)



9p13
Arthrogryposis, distal, type 1A - DA1A (3.4, 3.36, 16.8, 16.13)
arthrogryposis, distal, type 2B - DA2B (3.4, 3.36, 16.8, 16.13)
Cap myopathy, TPM2-related, included - (3.4, 3.36, 16.8, 16.13)
Nemaline myopathy 4 - NEM4 (3.4, 3.36, 16.8, 16.13)
437
TPM3
Tropomyosin 3



1q21.2
Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.13, 3.37)
438
TRAPPC11
trafficking protein particle complex 11



4q35.1
Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.39, 2.45)
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.39, 2.45)
439
TRIM2
Tripartite motif containing 2



4q31.3
Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.57)
440
TRIM32
Tripartite motif-containing 32



9q33.2
Sarcotubular myopathy - (1.28, 3.43)
Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.28, 3.43)
441
TRIM54
Tripartite motif-containing 54



2p.23.3
Cardiac and skeletal aggregate myopathy - (5.10)
442
TRIM63
Tripartite motif containing 63, E3 ubiquitin protein ligase



1p36.11
Cardiac and skeletal aggregate myopathy - (5.10)
443
TRIP4
thyroid hormone receptor interactor 4



15q22.31
Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.34)
Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.34)
444
TRPC3
transient receptor potential cation channel subfamily C member 3



4q27
Spinocerebellar ataxia 41 - SCA41 (13.37)
445
TRPV4
Transient receptor potential cation channel, subfamily V, member 4



12q23-q24
Scapuloperoneal spinal muscular atrophy - SPSMA (12.24, 12.25, 14.43)
Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.24, 12.25, 14.43)
Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.24, 12.25, 14.43)
446
TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.24)
447
TTBK2
Tau tubulin kinase 2



15q15.2
Spinocerebellar ataxia 11 - SCA11 (13.10)
448
TTN
Titin



2q31
Hereditary myopathy with early respiratory failure - HMERF (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Congenital myopathy with fatal cardiomyopathy - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Cardiomyopathy, dilated, 1G - CMD1G (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Centronuclear myopathy related to TTN - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Tibial muscular dystrophy, tardive - TMD (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
449
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 (13.48)
Ataxia with isolated vitamin E deficiency - TTPA (13.48)
450
TTR
Transthyretin (prealbumin, amyloidosis type I)



18q12.1
Familial amyloid neuropathy - (16.4)
451
TUBB3
Tubulin, beta 3



16q24
Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
452
UBA1
Ubiquitin-activating enzyme 1



Xp11.23
Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.20)
453
UBQLN2
Ubiquilin 2



Xp11.21
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.53)
454
VAMP1
vesicle associated membrane protein (synaptobrevin 1)



12p13
ataxia, spastic, 1, autosomal dominant - SPAX1 (15.67)
455
VAPB
Vesicle-associated membrane protein-associated protein B and C



7p15
Spinal muscular atrophy, late-onset, Finkel type - (12.30, 12.46)
Amyotrophic lateral sclerosis - ALS8 (12.30, 12.46)
456
VCL
Vinculin



10q22.1-q23
Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.51)
Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.51)
457
VCP
Valosin-containing protein



9p13-p12
Distal myopathy related to VCP - IBMPFD (1.47, 4.17, 5.25, 12.52)
Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.47, 4.17, 5.25, 12.52)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.47, 4.17, 5.25, 12.52)
Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.47, 4.17, 5.25, 12.52)
458
VMA21
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



Xq28
Myopathy, X-linked, with excessive autophagy - XMEA (5.13)
459
VPS37A
Vacuolar protein sorting-associated protein 37A



8p22
Spastic paraplegia 53, autosomal recessive - SPG53 (15.48)
460
VRK1
Vaccinia related kinase 1



14q32
Pontocerebellar hypoplasia type 1 - PCH1 (12.70, 14.99)
Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.70, 14.99)
461
WNK1
WNK lysine deficient protein kinase 1



12p.13
neuropathy, hereditary sensory and autonomic, type iia - HSAN2 (14.81)
462
YARS
Tyrosyl-tRNA synthetase



1p35.1
Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.13)
463
YARS2
tyrosyl-tRNA synthetase 2, mitochondrial(M)



12p11.21
Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.31)
464
ZFYVE26
Spastizin



14q24.1
Spastic paraplegia 15 - SPG15 (15.24)
465
ZFYVE27
Protrudin



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