Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
15'-nucleotidase, cytosolic II
NT5C2 (10q24-q32)



Spastic paraplegia 45, autosomal recessive - SPG45 (15.44)
278 kb inter-chromosomal insertion (from chro 8q24.3)
charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3 (14.38)
3A kinase (PRKA) anchor protein (yotiao) 9
AKAP9 (7q21.2)



Long QT syndrome 11 - LQT11 (10.134)
4Abhydrolase domain containing 5
ABHD5 (3p25.3-p24.3)



Chanarin-Dorfman syndrome - CDS (9.26)
5Acetylcholinesterase collagen-like tail subunit
COLQ (3p25)



Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.12)
6Acid alpha-glucosidase preproprotein
GAA (17q25.2-q25.3)



Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.59, 9.1, 10.90)
Glycogen storage disease II - GSDII (1.59, 9.1, 10.90)
7Actin-filament binding protein Frabin
FGD4 (12p11.21)



Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.31)
8Actin, alpha, cardiac muscle precursor
ACTC1 (15q11-q14)



Cardiomyopathy, dilated, 1R - CMD1R (10.10, 10.53, 10.95)
Asymmetric septal hypertrophy - ASH (10.10, 10.53, 10.95)
Cardiomyopathy, familial hypertrophic, 11 - CMH11 (10.10, 10.53, 10.95)
9Actinin alpha2
ACTN2 (1q42-q43)



Hypertrophic cardiomyopathy related to actinin-2 - (3.56, 4.25, 10.24, 10.62)
Myopathy congenital related to ACTN2 - (3.56, 4.25, 10.24, 10.62)
dilated cardiomyopathy, 1aa - CMD1AA (3.56, 4.25, 10.24, 10.62)
10Activating signal cointegrator 1 complex subunit 1
ASCC1 (10q22.1)



Arthrogryposis related to ASCC1 - (12.12, 16.24)
Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.12, 16.24)
11Activin A receptor, type II-like kinase 2
ACVR1 (2q23-q24)



Fibrodysplasia ossificans progressiva - FOP (5.23)
12Acyl-CoA dehydrogenase family member 9(M)
ACAD9 (3q21.3)



ACAD9-deficient mild myopathy - (9.25)
13Acyl-Coenzyme A dehydrogenase, very long chain(M)
ACADVL (17p13)



Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.24)
14adaptor-related protein complex 4, beta 1 subunit
AP4B1 (1p13.2)



Spastic paraplegia 47, autosomal recessive - SPG47 (15.46)
15Adaptor-related protein complex 4, epsilon-1 subunit
AP4E1 (15q21.2)



Spastic paraplegia 51, autosomal recessive - SPG51 (15.50)
16Adaptor-related protein complex 4, mu 1 subunit
AP4M1 (7q22.1)



Spastic paraplegia 50, autosomal recessive - SPG50 (15.49)
17Adaptor-related protein complex 4, sigma 1 subunit
AP4S1 (14q12)



Spastic paraplegia 52, autosomal recessive - SPG52 (15.51)
18Adenosine monophosphate deaminase 2
AMPD2 (1p13.3)



Spastic paraplegia 63, autosomal recessive - SPG63 (15.59)
19Adenylate cyclase 6
ADCY6 (12q13.12)



Lethal Congenital Contracture Syndrome 8 - LCCS8 (12.85)
20Adénylosuccinate synthase-like
ADSSL1 (14q32-33)



Adolescent onset distal myopathy - (4.20)
21Adhesion G protein-coupled recptor G6
ADGRG6 (6q24.2)



Lethal Congenital Contracture Syndrome 9 - LCCS9 (12.86)
22Adipose triglyceride lipase (desnutrin)
PNPLA2 (1p15.5)



Neutral lipid storage disease without ichthyosis - NLSDM (9.27)
23ADP-ribosylation factor-like 6 interacting protein 1
ARL6IP1 (16p12.3)



Spastic paraplegia 61, autosomal recessive - SPG61 (15.57)
24ADP-Ribosylhydrolase-Like 2
ADPRHL2 (1p34.3)



Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures - CONDSIAS (12.105)
25AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
AFG3L2 (18p11-q11)



Spinocerebellar ataxia 28 - SCA28 (13.25, 15.80)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.80)
26Agrin
AGRN (1p36.33)



Fetal akinesia deformation related to AGRN - (11.16, 16.31)
Familial limb girdle myasthenia related to agrin - CMS1B (11.16, 16.31)
27Ahnak nucleoprotein 2
AHNAK2 (14q32)



Charcot-Marie Tooth disease - (14.34)
28Alanyl-tRNA synthetase
AARS (16q22.1)



Dominant distal hereditary motor neuropathy - (12.24, 14.58)
Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.24, 14.58)
29Alanyl-tRNA synthetase 2, mitochondrial(M)
AARS2 (6p21.1)



Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
30Aldehyde dehydrogenase 3A2
ALDH3A2 (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)
31Aldehyde deydrogenase 18 family, member A1 (M)
ALDH18A1 (10q24.1)



Spastic paraplegia 9 - SPG9A (15.5, 15.25)
Spastic paraplegia 9A, autosomal recessive - SPG9B (15.5, 15.25)
32Alpha 1 type VI collagen
COL6A1 (21q22.3)



Bethlem myopathy - (1.22, 1.51, 2.2, 2.6)
LGMDD5 - (1.22, 1.51, 2.2, 2.6)
Ullrich congenital muscular dystrophy - UCMD1 (1.22, 1.51, 2.2, 2.6)
LGMDR22 - (1.22, 1.51, 2.2, 2.6)
33Alpha 2 type VI collagen
COL6A2 (21q22.3)



Bethlem myopathy - (1.23, 1.52, 2.5, 2.7, 2.12)
LGMDD5 - (1.23, 1.52, 2.5, 2.7, 2.12)
Ullrich scleroatonic muscular dystrophy - UCMD1 (1.23, 1.52, 2.5, 2.7, 2.12)
LGMDR22 - (1.23, 1.52, 2.5, 2.7, 2.12)
myosclerosis, autosomal recessive - (1.23, 1.52, 2.5, 2.7, 2.12)
34Alpha 3 type VI collagen
COL6A3 (2q37)



Bethlem myopathy - (1.24, 1.53, 2.4, 2.8)
LGMDD5 - (1.24, 1.53, 2.4, 2.8)
Ullrich congenital muscular dystrophy - UCMD1 (1.24, 1.53, 2.4, 2.8)
LGMDR22 - (1.24, 1.53, 2.4, 2.8)
35Alpha actin, skeletal muscle
ACTA1 (1q42.1)



Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.48, 3.3, 3.15, 3.43)
Nemaline myopathy 3 - NEM3 (2.48, 3.3, 3.15, 3.43)
myopathy, congenital, with fiber-type disproportion - CFTD (2.48, 3.3, 3.15, 3.43)
Left ventricular noncompaction 4 - LVNC4 (2.48, 3.3, 3.15, 3.43)
36Alpha kinase 3
ALPK3 (15q25.3)



Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.28)
37Alpha sarcoglycan
SGCA (17q21)



Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.32)
38Alpha-1,3/1,6-mannosyltransferase
ALG2 (9q31.1)



Congenital myasthenic syndrome related to ALG2 - (11.22)
39Alsin Rho guanine nucleotide exchange factor 2
ALS2 (2q33.2)



Amyotrophic lateral sclerosis, juvenile - ALS2 (12.45, 15.69)
Primary lateral sclerosis, juvenile - PLSJ (12.45, 15.69)
Spastic paralysis, infantile onset ascending - IAHSP (12.45, 15.69)
40Amphiphysin
BIN1 (2q14)



Centronuclear myopathy 2 - CNM2 (3.24)
41Amylo-1,6-glucosidase, 4-alpha-glucanotransferase
AGL (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)
42Androgen receptor
AR (Xq11.2-q12)



Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.40)
Kennedy disease - KD (12.40)
43Angiogenin
ANG (14q11.2)



amyotrophic lateral sclerosis 9 - ALS9 (12.52)
44Ankyrin 2
ANK2 (4q25-26)



Long QT syndrome-4 - LQT4 (10.126)
45Ankyrin repeat domain 1 (cardiac muscle)
ANKRD1 (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)
46Annexin A11
ANXA11 (10q23.3)



Multisystem proteinopathy - (12.102, 12.66)
Amytrophic lateral sclerosis 23 - ALS23 (12.102, 12.66)
47Anoctamin 10
ANO10 (3p22.1-p21.3)



Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.65)
48Anoctamin 5
ANO5 (11p14-12)



Muscular dystrophy with gnathodiaphyseal dysplasia - (1.16, 1.41, 4.15)
Muscular dystrophy, limb-girdle, autosomal recessive 12 - LGMDR12 (1.16, 1.41, 4.15)
Miyoshi muscular dystrophy 3 - MMD3 (1.16, 1.41, 4.15)
49Apolipoprotein O(M)
APOO (Xp22.11)



Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features - (16.81)
50Apoptosis-inducing factor, Mitochondria-associated 1(M)
AIFM1 (Xq24-q26.1)



Cerebellar ataxia with neuropathy, hearing loss and intellectual disability - (13.100, 14.39, 16.64)
Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (13.100, 14.39, 16.64)
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) - COWCK (13.100, 14.39, 16.64)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (13.100, 14.39, 16.64)
51Aprataxin
APTX (9p13.3)



Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.57)
52Asparaginyl-tRNA Synthetase 1
NARS1 (18q21.31)



Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities - NEDMILG (14.130)
53Ataxia telangiectasia mutated
ATM (11q22.3)



ataxia telangiectasia - AT (13.91)
54Ataxin 1
ATXN1 (6p22.3)



Spinocerebellar ataxia 1 - SCA1 (13.1)
Olivopontocerebellar atrophy I - OPCA1 (13.1)
55Ataxin 10
ATXN10 (22q13.31)



Spinocerebellar ataxia 10 - SCA10 (13.9)
56Ataxin 2
ATXN2 (12q24.12)



Spinocerebellar ataxia 2 - SCA2 (12.56, 13.2)
Olivopontocerebellar atrophy II - OPCA (12.56, 13.2)
Amyotrophic lateral sclerosis 13 - ALS13 (12.56, 13.2)
57Ataxin 3
ATXN3 (14q32.12)



Machado-Joseph disease - MJD (13.3)
Spinocerebellar ataxia 3 - SCA3 (13.3)
58Ataxin 7
ATXN7 (3p14)



Spinocerebellar ataxia 7 - SCA7 (13.7)
Olivopontocerebellar atrophy III - OPCA3 (13.7)
59Ataxin 8 opposite strand
ATXN8OS (13q21.33)



Spinocerebellar ataxia 8 - SCA8 (13.8)
60Atlastin GTPase 1
ATL1 (14q22.1)



Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.109, 15.1)
Neuropathy, hereditary sensory, type ID - HSN1D (14.109, 15.1)
61atlastin GTPase 3
ATL3 (11q13.1)



Hereditary sensory neuropathy type IF - HSN IF (14.111)
62ATP-binding cassette, sub-family C (member 9)
ABCC9 (16p13.1)



Cardiomyopathy, dilated, 1O - CMD1O (10.157, 10.50)
Atrial fibrillation , 12 - ATFB12 (10.157, 10.50)
63ATPase, Ca++ transporting, fast twitch 1
ATP2A1 (16p12.1)



Brody myopathy - ATP2A1 (6.9)
64ATPase, Cu++ transporting, alpha polypeptide
ATP7A (Xq13-q21)



Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.42)
65ATPase, NA+/K+ transporting alpha-2 polypeptide
ATP1A2 (1q23.2)



Hypokalaemic periodic paralysis - (7.5)
66ATPase, Na+/K+ transporting, alpha-1 polypeptide
ATP1A1 (1p13.1)



Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.68)
67ATPase, type 13A2(M)
ATP13A2 (1q36.13)



Spastic paraplegia 78, autosomal recessive - SPG78 (15.66)
68Autophagy 5, S. Cerevisiae, Homolog of
ATG5 (6q21)



Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.80)
69Autophagy-Related 7
ATG7 (3p25.3)



Spinocerebellar ataxia - SCAR31 (13.85)
70BCL2-associated athanogene 3
BAG3 (10q25.2-q26.2)



myofibrillar myopathy with bag3 defect - (5.7, 10.69, 14.74)
Charcot-Marie-Tooth disease, axonal, related to BAG3 - (5.7, 10.69, 14.74)
Dilated cardiomyopathy related to BAG3 - CMD1HH (5.7, 10.69, 14.74)
71Beta sarcoglycan
SGCB (4q12)



Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.33)
72Beta-1,3-N-acetylgalacto-saminyltransferase 2
B3GALNT2 (1q42.3)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.40)
73Beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALNT1 (12q13.3)



Charcot-Marie-Tooth disease, axonal - (14.96, 15.35)
Spastic paraplegia 26 - SPG26 (14.96, 15.35)
74Bicaudal D homolog 2 (Drosophila)
BICD2 (9q22.31)



Arthrogryposis and BICD2-related neuromuscular disease - (12.33, 12.34, 16.22)
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)
75Blood vessel epicardial substance
BVES (6q21)



Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.56)
76Brain expressed, associated with Nedd42
BEAN1 (16q21)



spinocerebellar ataxia-31 - SCA31 (13.28)
77Calcineurin-like EF-hand protein 1
CHP1 (15q15.1)



Spastic ataxia 9, autosomal recessive - SPAX9 (15.83)
78Calcium channel, voltage-dependent, beta 2 subunit
CACNB2 (10p12.33-p12.31 )



brugada syndrome 4 - (10.167)
79Calcium channel, voltage-dependent, beta 4 subunit
CACNB4 (2q22-q23)



episodic ataxia type 5, included - EA5 (13.47)
80Calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1C (12p13.33)



Timothy syndrome - LQT8 (10.131, 10.166)
brugada syndrome 3 - (10.131, 10.166)
81Calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA1S (1q32)



Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.50, 7.8, 8.5)
Hypokalemic periodic paralysis - CACNL1A3 (3.50, 7.8, 8.5)
Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.50, 7.8, 8.5)
Malignant hyperthermia susceptibility 5 - MHS5 (3.50, 7.8, 8.5)
82Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1A (19p13.13)



Episodic ataxia, type 2 - EA2 (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)
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.45, 13.50)
Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.45, 13.50)
Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.45, 13.50)
83Calcium channel, voltage-dependent, T type, aplpha-1H subunit
CACNA1H (16p13.3)



Congenital amyotrophy - (3.58)
84calcium voltage-gated channel subunit alpha1 G
CACNA1G (17q21.33)



Spinocerebellar ataxia 42 - SCA42 (13.37, 13.38)
Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits - SCA42ND (13.37, 13.38)
85Calmodulin 1
CALM1 (14q32.11)



Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.118, 10.137)
Long QT syndrome 14 - LQT14 (10.118, 10.137)
86Calmodulin 2
CALM2 (2p21)



Long QT syndrome 15 - LQT15 (10.138)
87Calmodulin 3
CALM3 (19q13.32)



Long QT syndrome 16 - LQT16 (10.122, 10.139)
Ventricular tachycardia, catecholaminergic polymorphic 6 - CPVT6 (10.122, 10.139)
88Calpain 1
CAPN1 (11q13.1)



Spastic paraplegia 76, autosomal recessive - SPG76 (15.64)
89Calpain 3
CAPN3 (15q15.1-q21.1)



Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.21, 1.30)
LGMDD4 - (1.21, 1.30)
90Calreticulin 3
CALR3 (19p13.11)



Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
91Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
CASQ1 (1q21)



Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.35)
92Calsequestrin 2 (cardiac muscle)
CASQ2 (1p13.1)



ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.116)
93Cardiac myosin binding protein-C
MYBPC3 (11p11.2)



Dilated cardiomyopathy related to MYBPC3 - (3.46, 10.4, 10.101, 10.74)
congenital skeletal myopathy and fatal cardiomyopathy - (3.46, 10.4, 10.101, 10.74)
Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.46, 10.4, 10.101, 10.74)
Cardimyopathy, dilated, 1A - CMD1A (3.46, 10.4, 10.101, 10.74)
Left ventricular noncompaction 10 - LVNC10 (3.46, 10.4, 10.101, 10.74)
94Carnitine Palmitoyltransferase 1C(M)
CPT1C (19q13.33)



Spastic paraplegia 73, autosomal dominant - SPG73 (15.20)
95Carnitine palmitoyltransferase II(M)
CPT2 (1p32)



Myopathy due to CPT II deficiency - CPT2 (9.18)
CPT deficiency, hepatic, type II - CPT2 (9.18)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.18)
96Carnitine-acylcarnitine translocase(M)
SLC25A20 (3p21.31)



Carnitine-acylcarnitine translocase deficiency - CACT (9.20)
97Catenin alpha 3
CTNNA3 (10q21.3)



Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.114)
98Caveolae-associated protein 1(M)
CAVIN1 (17q21-q2)



lipodystrophy, congenital generalized, type 4 - CGL4 (1.13)
99Caveolin 3
CAV3 (3p25.3)



Distal myopathy related to caveolin - (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Long QT syndrome 9 - LQT9 (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Hyperckemia, idiopathic - (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Creatine phosphokinase, elevated serum - CPK (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
cardiomyopathy, familial hypertrophic - CMH (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Rippling muscle disease - RMD2 (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.27, 4.13, 5.24, 6.6, 6.7, 10.132, 10.16)
100Cell adhesion molecule 3
CADM3 (1q23.2)



Charcot-Marie-Tooth disease, axonal, type 2FF - CMD2FF (14.69)
101Cellular nucleic acid-binding protein
CNBP (3q21.3)



Proximal myotonic myopathy - PROMM (6.2)
Myotonic dystrophy, type 2 - DM2 (6.2)
102Ceroid-lipofuscinosis, neuronal 3 (=battenin)
CLN3 (16p11.2)



Autophagic vacuolar myopathy - (5.17)
103Chaperonin containing TCP1 subunit 5
CCT5 (5p15.2)



Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.127)
104Charged multivesicular body protein 2B
CHMP2B (3p11.2)



Amyotrophic lateral sclerosis 17 - ALS17 (12.60)
105Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
CLCN1 (7q35)



Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.3, 6.4, 7.1, 7.2)
Myotonia congenita, autosomal recessive, Becker disease - MCR (6.3, 6.4, 7.1, 7.2)
Myotonia recessive - CLC1 (6.3, 6.4, 7.1, 7.2)
106Choline acetyltransferase isoform
CHAT (10q11.2)



Myasthenia gravis, autosomal recessive - MGI (11.13)
Myasthenia gravis, familial infantile - FIMG (11.13)
Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.13)
Myasthenia gravis, familial infantile, 2 - FIMG2 (11.13)
107Choline kinase beta
CHKB (22q13)



Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.46)
108Cholinergic receptor, nicotinic, alpha polypeptide 1
CHRNA1 (2q24-q32)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.1, 11.5)
Myasthenic syndrome, fast-channel congenital - FCCMS (11.1, 11.5)
109Cholinergic receptor, nicotinic, beta 1 muscle
CHRNB1 (17p13.1)



Myasthenic syndrome, congenital, 2B, Fast-channel - CMS2B (11.2, 11.6, 11.9)
Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.6, 11.9)
Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.6, 11.9)
110Cholinergic receptor, nicotinic, delta
CHRND (2q33-q34)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.7, 11.10)
Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.7, 11.10)
111Cholinergic receptor, nicotinic, epsilon
CHRNE (17p13-p12)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.8, 11.11)
Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.8, 11.11)
112Cholinergic receptor, nicotinic, gamma polypeptide
CHRNG (2q33-q34)



Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.35)
113Chomosome 12 open reading frame 65(M)
C12orf65 (12q24.31)



Spastic paraplegia 55, autosomal recessive - SPG55 (15.54)
114Chromodomain Helicase DNA-Binding Protein 8
CHD8 (14q11.2)



Congenital myasthenic syndrome - (11.42)
115Chromosome 1 open reading frame 194
C1orf194 (1p21.2-p13.3)



Charcot-Marie Tooth disease, intermediate - (14.20)
116Chromosome 19 open reading frame 12(M)
C19orf12 (19q12)



Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.42)
Spastic paraplegia 43, autosomal recessive - SPG43 (15.42)
117Chromosome 9 open reading frame 72
C9orf72 (9p21.2)



Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.72)
118Clathrin, heavy polypeptide-like 1
CLTCL1 (22q11.21)



Absence of pain, Congenital - (14.114)
119Coenzyme Q2(M)
COQ2 (4q21.23)



Coenzyme Q10 deficiency 1 - COQ10D1 (16.72)
120Coenzyme Q4(M)
COQ4 (9q34.11)



Coenzyme Q10 deficiency 7 - COQ10D7 (16.76)
121Coenzyme Q5 Methyltransferase(M)
COQ5 (12q24.31)



Coenzyme Q10 deficiency - COQ10D9 (13.102)
122Coenzyme Q6(M)
COQ6 (14q24.3)



Coenzyme Q10 deficiency 6 - COQ10D6 (16.75)
123Coenzyme Q7(M)
COQ7 (16p12.3)



Coenzyme Q10 deficiency 8 - COQ10D8 (16.77)
124Coenzyme Q8A
ADCK3 (1q42.13)



spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.64, 16.73)
Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency - SCAR9 (13.64, 16.73)
125Coenzyme Q9(M)
COQ9 (16q21)



Coenzyme Q10 deficiency 5 - COQ10D5 (16.74)
126Cofilin 2 (muscle)
CFL2 (14q12)



Nemaline myopathy - NEM7 (3.7)
127Coiled-coil domain containing 88C
CCDC88C (14q32.11)



Spinocerebellar ataxia 40 - SCA40 (13.35)
128Coiled-coil domain-containing protein 78
CCDC78 (16p13.3)



Centronuclear myopathy 4 - CNM4 (3.28)
129Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
CHCHD10 (22q11.2-q13.2)



late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.36, 12.73, 16.62)
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.36, 12.73, 16.62)
130Collagen type XII alpha 1 chain
COL12A1 (6q13-q14)



COL12A1-related congenital muscular dystrophy - (2.9, 2.10, 2.11)
Ullrich congenital muscular dystrophy 2 - UCMD2 (2.9, 2.10, 2.11)
Bethlem myopathy 2 - BTHLM2 (2.9, 2.10, 2.11)
131Collagen type XIII alpha 1 chain
COL13A1 (10q22.1)



Congenital myasthenic syndrome type 19 - CMS19 (11.27)
132Collagen, type XXV, alpha-1
COL25A1 (4q25)



Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
133Connexin 40
GJA5 (1q21.1)



atrial fibrillation, familial, 1 - ATFB1 (10.155, 10.156)
134Contactin-1
CNTN1 (12q11-q12)



Congenital myopathy Compton-North - (3.47)
135Contactin-Associated Protein 1
CNTNAP1 (17q21.2)



Charcot-Marie Tooth disease related to CNTNAP1 - (12.84, 14.35)
Lethal congenital contracture syndrome 7 - LCCS7 (12.84, 14.35)
136COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
COX15 (10q24)



Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
137Crystallin, alpha B
CRYAB (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)
138CTD phosphatase subunit 1
CTDP1 (18q23)



congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.125)
139CWF19-like Protein 1
CWF19L1 (10q24.31)



Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.72)
140Cysteine and glycine-rich protein 3 (cardiac LIM protein)
CSRP3 (11p15.1)



Cardiomyopathy, dilated, 1M - CMD1M (10.11, 10.48)
Cardiomyopathy, familial hypertrophic, 12 - CMH12 (10.11, 10.48)
141Cytochrome c Oxidase Assembly Factor 16
COX16 (14q24.2)



Mitochondrial complex IV deficiency - MC4DN22 (16.87)
142Cytochrome C oxidase assembly factor 7
COA7 (1p32.3)



Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.88)
143Cytochrome c Oxidase Assembly Factor COX20
COX20 (1q44)



Sensory neuropathy - (12.103)
144Cytochrome c oxidase assembly protein(M)
SCO2 (22q13.33)



Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.92)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.92)
145Cytochrome c oxidase subunit VIa polypeptide 1(M)
COX6A1 (12q24.31)



CMT recessive intermediate D - CMTRID (14.85)
146Cytochrome c-oxidase, subunit 6A2(M)
COX6A2 (16p11.2)



Mitochondrial complex IV deficiency - (16.67)
147Cytochrome P450, family 2, subfamily U, polypeptide 1
CYP2U1 (4q25)



Spastic paraplegia 56, autosomal recessive - SPG56 (15.55)
148Cytochrome P450, family 7, subfamily B, polypeptide 1
CYP7B1 (8p12-q13)



Spastic paraplegia 5A - SPG5A (15.23)
149Cytotoxic granuleassociated RNA binding protein
TIA1 (2p13)



Welander distal myopathy - WDM (4.7, 4.8)
150DDB1 and CUL4 associated factor 8
DCAF8 (1q23.2)



Giant axonal neuropathy 2 - GAN2 (14.124)
151DDHD domain containing 1
DDHD1 (14q21)



Spastic paraplegia 20 - SPG28 (15.37)
152DDHD domain containing protein 2
DDHD2 (8p11.23)



Spastic paraplegia 54, autosomal recessive - SPG54 (15.53)
153Dehydrogenase E1 and transketolase domain containing 1(M)
DHTKD1 (10p14)



Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.61)
154Delta-sarcoglycan
SGCD (5q33-q34)



Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.35, 10.47)
Dilated Cardiomyopathy, 1L - CMD1L (1.35, 10.47)
155Deoxyguanosine kinase(M)
DGUOK (2p13.1)



Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) - MTDPS3 (16.42, 16.46)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.42, 16.46)
156Desmin
DES (2q35)



Desmin-related myopathy - DRM (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
Myofibrillar myopathy 1 - MFM1 (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
Dilated cardiomyopathy, 1I - CMD1I (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.28, 1.58, 5.1, 5.14, 10.121, 10.44)
157Desmocollin 2
DSC2 (18q12.1)



Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)
158Desmoglein 2
DSG2 (18q12.1)



Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)
159Desmoplakin
DSP (6p24.3)



Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)
160Diacylglycerol O-acyltransferase 2
DGAT2 (1q13.3)



Early onset axonal neuropathy with sensory ataxia - (14.73)
161DNA (cytosine-5)-methyltransferase 1
DNMT1 (19p13.2)



Hereditary sensory neuropathy with dementia and hearing loss - (14.110)
Neuropathy, hereditary sensory, type 1E - HSN1E (14.110)
162DNA replication helicase 2(M)
DNA2 (10q21.3)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 - PEOA6 (16.38)
163DNA topoisomerase III
TOP3A (17p11.2)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 - PEOB5 (16.43)
164DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB2 (2q32-q34)



Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.80)
Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.80)
Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.80)
165Docking protein 7
DOK7 (4p16.2)



Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.18, 16.27)
Fetal akinesia deformation sequence 3 - FADS3 (11.18, 16.27)
166Dolichol kinase
DOLK (9q34.13)



Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)
167Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPAGT1 (11q23.3)



Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 - CMSTA2 (11.21)
168Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
DPM1 (20q13.13)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.35)
169Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM2 (9q34.13)



Muscle dystrophy with congenital disorder of glycosylation - (2.37)
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.37)
170Dolichyl-phosphate mannosyltransferase polypeptide 3
DPM3 (1q22)



Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.61)
171Double homeobox 4
DUX4 (4q35)



Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
172Dynactin 1
DCTN1 (2p13)



Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.71)
Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.71)
173Dynamin 2
DNM2 (19p13.2)



Myopathy centronuclear, 1 - CNM1 (2.15, 3.23, 4.16, 12.82, 14.14)
Charcot-Marie-Tooth disease, dominant intermediate B - CMTDIB (2.15, 3.23, 4.16, 12.82, 14.14)
Lethal Congenital Contracture Syndrome 5 - LCCS5 (2.15, 3.23, 4.16, 12.82, 14.14)
174Dynein, cytoplasmic 1, heavy chain 1
DYNC1H1 (14q32.31)



Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.32, 14.59)
Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.32, 14.59)
175Dysferlin
DYSF (2p12-14)



Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.31, 4.1)
Miyoshi myopathy - MM (1.31, 4.1)
176Dystonin
DST (6p12.1)



Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.106)
177Dystrobrevin, alpha
DTNA (18q12)



Left ventricular noncompaction, familial isolated - LVNC (10.92)
Left ventricular noncompaction with congenital heart defects - (10.92)
178Dystroglycan1
DAG1 (3p21)



Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.45, 2.38)
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.45, 2.38)
179Dystrophin
DMD (Xp21.2)



Becker muscular distrophy - BMD (1.1, 10.81)
Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.81)
Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.81)
Duchenne muscular dystrophy - DMD (1.1, 10.81)
180EAAT1 (excitatory amino acid transporter type 1)
SLC1A3 (5p13)



episodic ataxia type 6 - EA6 (13.48)
181Early growth response 2 protein
EGR2 (10q21.1)



Dejerine-Sottas syndrome - DSS (14.4, 14.27, 14.44)
Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.27, 14.44)
Neuropathy, congenital hypomyelinating, 1 - CHN1 (14.4, 14.27, 14.44)
Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.27, 14.44)
182Ectonucleoside triphosphate diphosphohydrolase 1
ENTPD1 (10q24.1)



Spastic paraplegia 64, autosomal recessive - SPG64 (15.60)
183Electron-transfer-flavoprotein, alpha polypeptide(M)
ETFA (15q23-q25)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.21)
184Electron-transfer-flavoprotein, beta polypeptide(M)
ETFB (19q13.3-q13.4)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.22)
185Electron-transferring-flavoprotein dehydrogenase(M)
ETFDH (4q32-q35)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.23)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.23)
186ELOVL fatty acid elongase 4
ELOVL4 (6q14.1)



Spinocerebellar ataxia 34 - SCA34 (13.30)
187ELOVL fatty acid elongase 5
ELOVL5 (6p12.1)



Spinocerebellar ataxia 38 - SCA38 (13.34)
188Emerin
EMD (Xq28)



Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
189Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)
ERLIN1 (10q24.31)



Spastic paraplegia 62 autosomal recessive - SPG62 (15.58)
190Endothelin-converting enzyme like 1
ECEL1 (2q37.1)



Arthrogryposis, distal, type 5D - DA5D (16.18)
191Enolase 3, beta muscle specific
ENO3 (17pter-p11)



Enolase deficiency - ENO3 (9.16)
Glycogen storage disease XIII - GSD13 (9.16)
192ER lipid raft associated 2
ERLIN2 (8p12-p11.21)



Spastic paraplegia 18 - SPG18 (15.29)
193Eukaryotic translation elongation factor 2
EEF2 (19p13.3)



Spinocerebellar ataxia 26 - SCA26 (13.23)
194Exosome component 3
EXOSC3 (9p13.2)



Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.90)
195Exosome component 8
EXOSC8 (13q13.1)



Spinal muscular atrophy and cerebellar hypoplasia - (12.14)
196Eyes absent 4
EYA4 (6q23-24)



Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.45)
Cardiomyopathy, dilated, 1J - CMD1J (10.45)
197F-box and leucine-rich repeat protein 4
FBXL4 (6q16.1-q16.2)



Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) - MTDPS13 (16.56)
198F-box protein 38
FBXO38 (5q32)



Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.20)
199Family with sequence similarity 111 member B
FAM111B (11q12.1)



Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.63)
200Family with sequence similarity 134 member B
RETREG1 (5p15.1)



Hereditary sensory neuropathy, type IIB - HSAN2B (14.101)
201Fast Kinase Domains 2
FASTKD2 (2q33.3)



MELAS-like syndrome - (16.66)
202Fat tumor suppressor, Drosophila, Homologh of, 2
FAT2 (5q33.1)



Spinocerebellar ataxia 45 - SCA45 (13.41)
203Fatty acid 2-hydroxylase
FA2H (16q21-q23.1)



Spastic paraplegia 35, autosomal recessive - SPG35 (15.40)
Dysmyelinating leukodystrophy - FAHN (15.40)
204Feline leukemia subgroup C receptor 1
FLVCR1 (1q32.3)



Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.113)
205Ferredoxin(M)
FDX2 (19p13.2)



Sensory motor axonal neuropathy and myopathy - (16.78)
206Fibroblast growth factor 14
FGF14 (13q34)



Spinocerebellar ataxia 27 - SCA27 (13.24)
207Fibulin 5 (extra-cellular matrix)
FBLN5 (14q32.12)



Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.11)
208Filamin A, alpha (actin binding protein 280)
FLNA (Xq28)



Myxomatous valvular dystrophy, X-ninked - XMVD (10.102)
cardiac valvular dysplasia, x-linked - CVD1 (10.102)
209Filamin C, gamma (actin-binding protein - 280)
FLNC (7q32)



Myopathy, myofibrillar, filamin C-related - MFM5 (4.18, 5.6, 10.27, 10.89)
Myopathy, distal, 4 - MPD4 (4.18, 5.6, 10.27, 10.89)
Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.18, 5.6, 10.27, 10.89)
210flavin adenine dinucleotide synthetase, homolog(M)
FLAD1 (1q21.3)



Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
211FMR1 autosomal homolog
FXR1 (3q26.33)



Congenital multi-minicore myopathy - (3.59)
212Four and a half LIM domain 1
FHL1 (Xq26.3)



Rigid spine syndrome related to FHL1 - RSS (1.3, 5.25, 5.26, 5.27)
Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 5.25, 5.26, 5.27)
Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 5.25, 5.26, 5.27)
X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 5.25, 5.26, 5.27)
Myopathy, reducing body, X-linked, severe early-onset - (1.3, 5.25, 5.26, 5.27)
Myopathy, reducing body, X-linked, childhood-onset - (1.3, 5.25, 5.26, 5.27)
Rigid spine syndrome - RSMD1 (1.3, 5.25, 5.26, 5.27)
213Frataxin(M)
FXN (9q13-q21.1)



Friedreich ataxia - FRDA (13.53)
Friedreich ataxia with retained reflexes - FARR (13.53)
214Fukutin
FKTN (9q31-q33)



Walker-Warburg syndrome - WWS (1.42, 2.18, 2.19, 10.59)
fukuyama congenital muscular dystrophy - FCMD (1.42, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.42, 2.18, 2.19, 10.59)
Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.42, 2.18, 2.19, 10.59)
Cardiomyopathy, dilated, 1X - CMD1X (1.42, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.42, 2.18, 2.19, 10.59)
215Fukutin-related protein
FKRP (19q13.32)



Walker-Warburg syndrome - WWS (1.38, 2.22, 2.28, 2.33)
Muscle-eye-brain disease - MEB (1.38, 2.22, 2.28, 2.33)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.38, 2.22, 2.28, 2.33)
Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.38, 2.22, 2.28, 2.33)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.38, 2.22, 2.28, 2.33)
216Fusion (involved in t(12;16) in malignant liposarcoma)
FUS (16q12)



Amyotrophic lateral sclerosis - ALS6 (12.49)
217Gamma sarcoglycan
SGCG (13q12)



Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.34)
218Ganglioside induced differentiation associated protein 2
GDAP2 (1p12)



Spinocerebellar ataxia, autosomal recessive 27 - SACR27 (13.82)
219Ganglioside-induced differentiation-associated protein 1
GDAP1 (8q13-q21)



Charcot-Marie-Tooth disease, type 4A - CMT4A (14.21, 14.56, 14.82)
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.21, 14.56, 14.82)
Charcot-Marie-Tooth disease, type 2K - CMT2K (14.21, 14.56, 14.82)
Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.21, 14.56, 14.82)
220Gap junction protein, beta 1, 32kDa (connexin 32)
GJB1 (Xq13.1)



Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.36, 14.44)
221Gap junction protein, beta 3, 31kDa (=connexin 31)
GJB3 (1p34.3)



Peripheral neuropathy and deafness, autosomal dominant - (14.121)
222gap junction protein, gamma 2, 47kDa
GJC2 (1q42.13)



Spastic paraplegia 44, autosomal recessive - SPG44 (15.43)
223GATA zinc finger domain containing 1
GATAD1 (7q21-q22)



Dilated cardiomyopathy realted to GATAD1 - (10.79)
Cardiomyopathy, dilated, 2B - CMD2B (10.79)
224GDP-mannose pyrophosphorylase B
GMPPB (3p21.31)



Congenital Myasthenic syndrome related to GMPPB - (1.48, 2.30, 2.42, 11.37)
Muscle-eye-brain disease - MDDGA14 (1.48, 2.30, 2.42, 11.37)
Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.48, 2.30, 2.42, 11.37)
225Geranylgeranyl Diphosphate Synthase 1
GGPS1 (1q42.3)



Muscular dystrophy with hearing loss and ovarian insufficiency syndrome - MDHLO (1.17)
226Gigaxonin
GAN1 (16q23.2)



Giant axonal neuropathy-1 - GAN1 (14.123)
227GIPC PDZ Domain-containing family, member 1
GIPC1 (19p13.12)



Oculopharyngodistal myopathy 2 - OPDM2 (5.20)
228GLE1 RNA export mediator homolog (yeast)
GLE1 (9q34.11)



Lethal congenital contracture syndrome 1 - LCCS1 (12.78)
229Gliomedin
GLDN (15q21.2)



Lethal Congenital Contracture Syndrome 11 - LCCS11 (12.88)
230Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)
GBE1 (3p12)



Glycogen branching enzyme deficiency - GSD IV (9.3)
231Glucosidase, beta (bile acid) 2
GBA2 (9p13.3)



Spastic paraplegia 46, autosomal recessive - SPG46 (15.45)
232Glutamate receptor metabotropic, 1
GRM1 (6q24.3)



Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.68)
Spinocerebellar ataxia 44 - SCA44 (13.40, 13.68)
233Glutamate receptor, ionotropic, delta 2
GRID2 (4q22.1)



Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.73)
234Glutamine-fructose-6-phosphate transaminase 1
GFPT1 (2p12-p15)



Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.20)
235Glycerol-3-phosphate dehydrogenase 1-like
GPD1L (3p22.3)



brugada syndrome 2 - (10.165)
236Glycogen phosphorylase
PYGM (11q12-q13.2)



McArdle disease - PYGM (9.4)
237Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
GYS1 (19q13.3)



glycogen storage disease type 0 - GSD0b (9.9)
238Glycogenin 1
GYG1 (3q24)



Glycogen storage disease XV - GSD15 (9.8, 9.12)
Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
239Glycyl-tRNA synthetase
GARS (7p15)



Neuropathy, distal hereditary motor type V - HMN V (12.21, 14.50)
Spinal muscular atrophy, distal, type V - DSMAV (12.21, 14.50)
Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.21, 14.50)
240Golgi SNAP receptor complex member 2
GOSR2 (17q21.32)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (1.15, 2.44)
Muscular dystrophy - (1.15, 2.44)
241Golgi-specific brefeldin-A resistance factor 1
GBF1 (10q24.32)



Distal hereditary motor neuropathies - (12.39, 14.13)
Charcot-Marie-Tooth disease, dominant intermediate A - CMT2GG (12.39, 14.13)
242Golgin A2
GOLGA2 (9q34.113)



GOLGA2-related congenital muscle dystrophy with brain involvement - (2.49)
243Growth Factor ERV1-Like
GFER (16p13.3)



Myopathy, mitochondrial progressive, with congenital cataract and developmental delay - MPMCD (16.84)
244Guanine nucleotidebinding protein, beta-4
GNB4 (3q28-q29)



Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.18)
245Heat shock 27kDa protein 1
HSPB1 (7q11.23)



Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.18, 14.52)
Neuropathy, distal hereditary motor, type IIB - HMN2B (12.18, 14.52)
246Heat shock 27kDa protein 3
HSPB3 (5q11.2)



neuronopathy, distal hereditary motor, type IIC - HMN2C (12.19)
247Heat shock 27kDa protein 8
HSPB8 (12q24.23)



Rimmed vacuole myopathy - (4.24, 4.26, 12.17, 14.57)
Neuropathy, distal hereditary motor, type II - HMN2A (4.24, 4.26, 12.17, 14.57)
Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (4.24, 4.26, 12.17, 14.57)
248Heat shock 60kDa protein 1 (chaperonin)(M)
HSPD1 (2q33.1)



Spastic paraplegia 13 - SPG13 (15.8)
249Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1
HACE1 (6q16.3)



Spastic paraplegia and psychomotor retardation with or without seizures - SPPRS (15.71)
250Hetergeneous nuclear ribonucleoprotein A2/B1
HNRNPA2B1 (7q15.2)



Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.30)
251Heterogeneous nuclear ribonucleoprotein A1
HNRNPA1 (12q13.13)



Isolated inclusion body myopathy - IBMPFD3 (3.40, 12.63)
Amyotrophic lateral sclerosis 20 - ALS20 (3.40, 12.63)
252Heterogeneous nuclear ribonucleoprotein D-like
HNRNPDL (4q21)



Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.20)
253Hexokinase 1(M)
HK1 (10q22.1)



Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.30)
254Hexosaminidase B
HEXB (5q13.3)



Late onset spinal muscular atrophy related to HEXB - (12.95)
255Histidine triad nucleotide binding protein 1
HINT1 (5q23.3)



Distal hereditary motor neuronopathy - (12.15, 14.81)
Axonal neuropathy with myotonia - NMAN (12.15, 14.81)
256Histidyl-tRNA synthetase
HARS (5q31.3)



Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.64)
257Homeobox D10
HOXD10 (2q31.1)



Charcot-Marie-Tooth disease, congenital, vertical talus - (14.9)
258HSP-40 homologue, subfamily B, number 6
DNAJB6 (7q36)



LGMDD1 - (1.18, 4.22, 4.23)
259Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
HCN4 (3p22.2)



Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.171, 10.174)
familial sinusal bradycardia - FSBD (10.171, 10.174)
Brugada syndrome 8 - BRGDA8 (10.171, 10.174)
260Hypothetical protein LOC9907 ?
AP5Z1 (7p22.2)



Spastic paraplegia 48, autosomal recessive - SPG48 (15.47)
261IBA57 homolog, iron-sulfur cluster assembly (M)
IBA57 (1q42.13)



Spastic paraplegia 74, autosomal recessive - SPG74 (15.62)
262Immunoglobulin mu binding protein 2
IGHMBP2 (11q13.2-q13.4)



Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.87)
Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.87)
263Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ELP1 (9q31.3)



Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.103, 16.3)
Familial dysautonomia (Riley-Day syndrome) - (14.103, 16.3)
264Inositol 1,4,5-triphosphate receptor type 1
ITPR1 (3p26.1)



Spinocerebellar ataxia 15 - SCA15 (13.14)
265Inositol 1,4,5-triphosphate receptor, type 3
ITPR3 (6q21.31)



Charcot-Marie-Tooth neuropathy - (14.12)
266Inositol Polyphosphate-5-Phosphatase K
INPP5K (17p13.3)



Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.51)
267Integrin alpha 7 precursor
ITGA7 (12q13)



Congenital muscular dystrophy with integrin defect - (2.14)
Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
268Integrin-linked kinase
ILK (11p15.5-p15.4)



Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.76)
269Interferon-related developmental regulator 1
IFRD1 (7q31.1)



Spinocerebellar ataxia 18 - SCA18 (13.16)
270Inverted formin 2
INF2 (14q32-33)



Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.17)
271Iron-sulfur cluster scaffold homolog (E. coli)(M)
ISCU (12q24.1)



myopathy with deficiency of succinate dehydrogenase and aconitase - (5.31)
myopathy with lactic acidosis, hereditary - HML (5.31)
myopathy with exercise intolerance, swedish type - (5.31)
272Isoprenoid synthase domain containing
ISPD (7p21.2)



Walker-Warburg syndrome - WWS
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7
273Isoprenoid synthase domain containing protein
CRPPA (7p21.2-p21.1)



Walker-Warburg syndrome (WWS) - MDDGA7 (1.49, 2.24)
LGMDR20 - LGMDR20 (1.49, 2.24)
274Jagged 1
JAG1 (20p12.2)



Charcot-Marie-Tooth disease, axonal, related to JAG1 - CMT2 (14.75)
275Jagged 2
JAG2 (14q32.33)



Muscular dystrophy - (1.14)
276Junction plakoglobin
JUP (17q21.2)



naxos disease - (10.113, 10.120)
arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.113, 10.120)
277Junctophilin-2
JPH2 (20q13.12)



Hypertrophic cardiomyopathy related to junctophilin - (10.18)
Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18)
278Kelch repeat and BTB (POZ) domain containing 13
KBTBD13 (15q22.31)



LGMD related to KBTBD13 - (1.65, 3.6)
Nemaline myopathy 6 - NEM6 (1.65, 3.6)
279Kelch-like family member 40
KLHL40 (2p22.1)



Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
280Kelch-like family member 41
KLHL41 (2q31.1)



Nemaline myopathy - NEM9 (3.9)
281Kelch-like homologue 9
KLHL9 (9p21.2-p22.3)



Early onset distal myopathy with KLHL9 mutations - (4.17)
282KIAA1985 protein
SH3TC2 (5q32)



Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.25)
283kinase D-interacting substrate, 220kDa
KIDINS220 (2p25.1)



Spastic paraplegia, intellectual disability, nystagmus, and obesity - SINO (15.22)
284Kinesin family member 1A
KIF1A (2q37.3)



Spastic paraplegia 30 - SPG30 (14.112, 15.38)
Neuropathy, hereditary sensory, type IIC - HSN2C (14.112, 15.38)
285Kinesin family member 1B(M)
KIF1B (1p36.2)



Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.46)
286kinesin family member 1C
KIF1C (17p13.2)



ataxia, spastic, 2, autosomal recessive - SPAX2 (15.77)
287Kinesin family member 21A
KIF21A (12q12)



Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
288Kinesin family member 26B
KIF26B (1q44)



Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B - (12.97)
289Kinesin family member 5A
KIF5A (12q13.13)



CMT2 related to KIF5A - (12.68, 14.72, 15.6)
Spastic paraplegia 10 - SPG10 (12.68, 14.72, 15.6)
Amyotrophic lateral sclerosis 25, susceptibility to - ALS25 (12.68, 14.72, 15.6)
290Kinesin light chain 2
KLC2 (11q13.2)



Spastic paraplegia, optic atrophy, and neuropathy - SPOAN (15.70)
291Kir2.6 (inwardly rectifying potassium channel 2.6)
KCNJ18 (17p11.2)



Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
292Kyphoscoliosis peptidase
KY (3q22.2)



Myopathy microfibrillar type 7 - MFM7 (5.8)
293L1 cell adhesion molecule
L1CAM (Xq28)



Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.72)
CRASH syndrome - L1CAM (15.72)
MASA syndrome - L1CAM (15.72)
CRASH syndrome - HSAS (15.72)
294Lactate dehydrogenase A
LDHA (11p15.4)



Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
Glycogen storage disease XI - GSD11 (9.15)
295Lamin A/C
LMNA (1q22)



Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
restrictive dermopathy - (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.26, 2.17, 10.37, 14.77)
296Lamina-associated polypeptide 2
TMPO (12q22)



Cardiomyopathy, dilated, 1T - CMT1T (10.55)
297Laminin alpha 2 chain of merosin
LAMA2 (6q22-q23)



Muscular dystrophy, congenital merosin-deficient - MDC1A (1.54, 2.1)
LGMDR23 - (1.54, 2.1)
298Laminin alpha 4
LAMA4 (6q21)



Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.71)
299Laminin, Alpha 5
LAMA5 (20q13.33)



Presynaptic congenital myasthenic syndrome - (11.38)
300Laminin, beta 2 (laminin S)
LAMB2 (3p21)



Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.34)
301LARGE xylosyl- and glucuronyltransferase 1
LARGE1 (22q12.3)



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.34)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.34)
302LDL receptor related protein 4
LRP4 (11p11.2)



Congenital myasthenic syndrome - CMS17 (11.25)
303Leiomodin 3 (fetal)
LMOD3 (3p14.1)



Nemaline myopathy - NEM10 (3.10)
304Leucine rich repeat and sterile alpha motif containing 1
LRSAM1 (9q33.3)



Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.60)
305Ligand-Dependent Nuclear Receptor-Interacting Factor 1
LRIF1 (1p13.3)



Facio-scapulo-humeral muscular dystrophy - FSHD3 (1.12)
306Ligase III DNA ATP-Dependent
LIG3 (17q12)



Mitochondrial neurogastrointestinal encephalomyopathy - (16.86)
307LIM and senescent cell antigen-like domains 2
LIMS2 (2q14.3)



Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.60)
308LIM domain binding 3
LDB3 (10q22)



cardiomyopathy, dilated 1C - CMD1C (4.14, 5.5, 10.25, 10.39, 10.94)
Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.14, 5.5, 10.25, 10.39, 10.94)
Left ventricular noncompaction 3 - LVNC3 (4.14, 5.5, 10.25, 10.39, 10.94)
myofibrillar myopathy ZASP-related - MFM4 (4.14, 5.5, 10.25, 10.39, 10.94)
309Lipin 1 (phosphatidic acid phosphatase 1)
LPIN1 (2p25.1)



Reccurrent myoglobinuria, autosomal recessive - (9.28)
310Lipopolysaccharide-induced TNF factor
LITAF (16p13.3-p12)



Hereditary motor and sensory, type 1C - CMT1C (14.3)
311Low Density Lipoprotein Receptor-Related Protein 10
LRP10 (14q11.2)



Amyotrophic lateral sclerosis - (12.76)
312Low density lipoprotein receptor-related protein 12
LRP12 (8q22.3)



Oculopharyngodistal myopathy 1 - OPDM1 (5.19)
313Lysosomal-associated membrane protein 2 precursor
LAMP2 (Xq24)



Danon disease - (5.15)
Glycogen storage disease IIb - GSD2B (5.15)
314Lysyl-tRNA synthetase
KARS (16q23.1)



Axonal neuropathy recessive - CMTRIB (14.83)
315Mannose-P-dolichol utilization defect 1
MPDU1 (17p13.1)



Congenital disorder of glycosylation type 1 - CDG1F (2.36)
316Maspardin
SPG21 (15q21-q22)



Spastic paraplegia 20 - SPG21 (15.31)
317Matrin 3
MATR3 (5q31)



Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.64)
Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.64)
318Membrane metallo-endopeptidase
MME (3q25.2)



Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.88)
Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.88)
319MET protooncogene
MET (7q31.2)



Arthrogryposis and muscular dysplasia - (16.23)
320Methionyl-tRNA synthetase
MARS (12q13.3)



Charcot-Marie-Tooth 2 - (14.62)
321Methionyl-tRNA synthetase 2, mitochondrial(M)
MARS2 (2q33-34)



autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.78)
322Microtubule associated protein Tau
MAPT (17q21.31 )



Lower motor neuron disease with respiratory failure related to MAPT - (12.99)
323Microtubule-actin cross-linking factor 1
MACF1 (1p34.3)



Spectraplakinopathy - (16.79)
324Mindbomb homolog 1 (drosophila)
MIB1 (18q11.2)



Left ventricular noncompaction 7 - LVNC7 (10.98)
325Minichromosome maintenance 3-associated protein
MCM3AP (21q22.3)



Charcot-Marie-Tooth disease, axonal - (12.100, 14.95)
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.100, 14.95)
326Misato homolog 1 (Drosophila)(M)
MSTO1 (1q22)



Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.52, 13.98, 16.70)
327Mitochondrial Calcium Uptake Protein 1
MICU1 (10q22.1)



Myopathy with extrapyramidal signs - MPXPS (5.37)
328Mitochondrial carrier; adenine nucleotide translocator(M)
SLC25A4 (4q35)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.34, 16.54, 16.55)
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.34, 16.54, 16.55)
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.34, 16.54, 16.55)
329Mitochondrial DNA polymerase, accessory subunit(M)
POLG2 (17q24.1)



progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.36)
330Mitochondrial genome maintenance exonuclease 1(M)
MGME1 (20p11.23)



Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.53)
331Mitochondrial poly(A) polymerase(M)
MTPAP (10p12.1)



Spastic ataxia 4 autosomal recessive - SPAX4 (15.79)
332Mitochondrial ribosomal protein L3(M)
MRPL3 (3q21-q23)



Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
333Mitochondrial ribosomal protein L44(M)
MRPL44 (2q36.1)



Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
334Mitochondrial ribosomal protein S25(M)
MRPS25 (3p25.1)



Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy - (16.69)
335Mitochondrial tRNA translation optimization 1(M)
MTO1 (6q13)



Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
336Mitofusin 2(M)
MFN2 (1p36.22)



Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.47, 14.71, 14.76)
Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.47, 14.71, 14.76)
Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.47, 14.71, 14.76)
337Mitogen-activated protein kinase kinase 20
MAP3K20 (2q31.1)



Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.21)
338MORC family CW-type zinc finger 2
MORC2 (2q12.2)



Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.66)
339MpV17 mitochondrial inner membrane protein(M)
MPV17 (2p23.3)



Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.79)
340MRE11 meiotic recombination 11 homolog A
MRE11A (11q21)



ataxia telangiectasia-like disorder - ATLD (13.92)
341Mucopilin 1
MCOLN1 (19p13.2)



Lysosomal storage myopathy - ML4 (3.67)
342Multiple EGF-like-domains 10
MEGF10 (5q23.2)



Recessive congenital myopathy with minicores - (3.34, 3.35)
Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.34, 3.35)
343Muscle-related coiled-coil protein
MURC (9q31.1)



Dilated cardiomyopathy related to MURC - (10.83)
344Muscle, skeletal, receptor tyrosine kinase
MUSK (9q31.3-q32)



Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 16.26)
Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 16.26)
345Myelin associated glycoprotein
MAG (19q13.12)



Spastic paraplegia 75, autosomal recessive - SPG75 (15.63)
346Myelin protein zero
MPZ (1q22)



Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Dejerine-Sottas syndrome - DSSA (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Neuropathy, congenital hypomyelinating, 2 - CHN2 (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.16, 14.28, 14.43, 14.54, 14.55)
347Myogenic Differentiation Antigen 1
MYOD1 (11p15.1)



Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF (16.83)
348Myoglobin
MB (22q12.3)



Myopathy with characteristic sarcoplasmic inclusions - (5.36)
349Myomaker
MYMK (9q34.2)



Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.53)
350Myopalladin
MYPN (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)
351Myosin heavy chain 6
MYH6 (14q12)



Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.176, 10.66)
Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.176, 10.66)
Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.176, 10.66)
Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.176, 10.66)
352Myosin heavy chain, 8, skeletal muscle, perinatal
MYH8 (17p13)



Myosin, heavy chain, perinatal - MYH8 (16.19)
353Myosin IXA
MYO9A (15q23)



Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.32)
354Myosin light chain 2
MYL2 (12q23-q24.3)



Cardiomyopathy, hypertrophic, 10 - CMH10 (3.20, 10.9)
myopathy, congenital, with fiber-type disproportion - CFTD (3.20, 10.9)
Cardiomyopathy, familial hypertrophic, 10 - CMH10 (3.20, 10.9)
355Myosin light chain 3
MYL3 (3p21.3-p21.2)



Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
356Myosin light chain kinase 2
MYLK2 (20q13.31)



cardiomyopathy, familial hypertrophic - CMH (10.15)
357Myosin Light Chain Phosphorylatable Fast Skeletal Muscle
MYLPF (16p11.2)



Segmental amyoplasia with Distal Arthrogryposis - DA1C (16.82)
358Myosin XVIIIB
MYO18B (22q12.1)



Nemaline Myopathy with Cardiomyopathy - (3.12)
Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.12)
359Myosin-binding proteinC, slow type
MYBPC1 (12q23.2)



Arthrogryposis, distal, type 1B - DA1B (12.81, 16.10)
Lethal Congenital Contracture Syndrome 4 - LCCS4 (12.81, 16.10)
360Myosin, heavy chain 14, non muscle
MYH14 (19q13.33)



Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.98)
361Myosin, heavy polypeptide 2, skeletal muscle
MYH2 (17p13.1)



Myopathy congenital, with fiber-type disproportion - CFTD (3.39)
Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.39)
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.39)
362Myosin, heavy polypeptide 7, cardiac muscle, beta
MYH7 (14q12)



Myopathy, myosin storage, autosomal dominant (eccentric core disease) - (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
Myopathy, distal 1 - MPD1 (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
Myosin storage myopathy - (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
Cardiomyopathy, dilated, 1S - CMD1S (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
Left ventricular noncompaction 5 - LVNC5 (3.19, 3.36, 3.37, 3.38, 3.64, 4.4, 10.54, 10.96)
363Myosin, Light Chain 4, Alkali, Atrial, Embryonic
MYL4 (17q21.32)



ATFB18 - Atrial fibrillation (10.163)
364Myosin, light polypeptide 1, alkali, skeletal fast
MYL1 (2q34)



Myopathy congenital with fast twitch (type II) fiber atrophy - MYOFTA (3.57)
365Myosine, heavy chain 3, skeletal muscle, embryonic
MYH3 (17p13)



Arthrogryposis, distal, type 2A - DA2A (16.11, 16.14)
Arthrogryposis, distal, type 2B - DA2B (16.11, 16.14)
366Myostatin
MSTN (2q32.2)



Muscle hypertrophy - MSLHP (5.22)
367Myotilin
MYOT (5q31)



Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.25, 4.10, 5.3, 5.4)
Spheroid body myopathy - (1.25, 4.10, 5.3, 5.4, 5.4)
Myofibrillar myopathy, myotilin related - MFM3 (1.25, 4.10, 5.3, 5.4, 5.4)
368Myotonic dystrophy protein kinase
DMPK (19q13.3)



Steinert disease - DM1 (6.1)
Myotonic dystrophy 1 - DM1 (6.1)
Dystrophia myotonica - DM (6.1)
369Myotubularin
MTM1 (Xq28)



Myotubular myopathy, X-linked - MTM1 (3.22)
370Myotubularin-related protein 2
MTMR2 (11q22)



Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.22)
371Myozenin 2, or calsarcin 1, a Z disk protein
MYOZ2 (4q26)



Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)
372N-acetyl-alpha-glucosaminidase
NAGLU (17q21.2)



Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.63)
373N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASAH1 (8p22)



Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.13)
374N-myc downstream regulated gene 1
NDRG1 (8q24.3)



Charcot-Marie-Tooth disease, type 4D - CMT4D (14.26)
Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.26)
Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.26)
375NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)
NDUFAF1 (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)
376Natriuretic peptide precursor A
NPPA (1p36.22)



atrial fibrillation, familial, 6 - ATFB6 (10.150)
377Nebulin
NEB (2q22)



Distal myopathy with nebulin defect - (3.2, 4.11, 4.12)
Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.11, 4.12)
378Nerve growth factor (beta polypeptide)
NGF (1p13.1)



neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.105)
379Neurofilament, heavy polypeptide
NEFH (22q12.2)



Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.69, 14.67)
Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.69, 14.67)
380Neurofilament, light polypeptide 68kDa
NEFL (8p21)



Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.19, 14.51)
Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.19, 14.51)
Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.19, 14.51)
381neurotrophic receptor tyrosine kinase 1
NTRK1 (1biq23.1)



Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.104)
382Never in mitosis gene A-related kinase 9
NEK9 (14q24.3)



Lethal Congenital Contracture Syndrome 10 - LCCS10 (12.87)
383Never in motosis gene A-related kinase 1
NEK1 (4q33)



Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.67)
384Nexilin(F-actin binding protein)
NEXN (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)
385Nicotinamide nucleoside adenyltransferase 2
NMNAT2 (1q25.3)



Polyneuropathy with erythromelalgia - (14.118)
386NK6 homeobox 2
NKX6-2 (10q26.3)



Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy - SPAX8 (15.82)
387Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1
NIPA1 (15q11.2)



Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
388NOP2/SUN RNA Methyltransferase Family Member 3
NSUN3 (3q11.2)



Combined oxidative phosphorylation deficiency - COXPD48 (16.85)
389NOP56 ribonucleoprotein
NOP56 (20p13)



Spinocerebellar ataxia 31 - SCA36 (13.32)
390Notch2 N-terminal-like protein
NOTCH2NLC (1q21.2)



Oculopharyngodistal myopathy - (5.38, 14.128)
Neuronal intranuclear inclusion diseases - NIID (5.38, 14.128)
391Nucleoporin 155 kDa
NUP155 (5p13.2)



Atrial fibrillation, 15 - ATFB15 (10.160)
392Nucleoporin 88kD
NUP88 (17p13.2)



Fetal akinesia deformation sequence 4 - FADS4 (16.29)
393O-linked mannose beta1,2-N-acetylglucosaminyltransferase
POMGNT1 (1p34.1)



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.44, 2.23, 2.27)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.44, 2.23, 2.27)
Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.44, 2.23, 2.27)
Muscular dystrophy, limb-girdle, autosomal recessive 15 - LGMDR15 (1.44, 2.23, 2.27)
394optic atrophy 1(M)
OPA1 (3q28-q29)



Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness - (16.57, 16.59)
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) - MTDPS14 (16.57, 16.59)
395Optineurin
OPTN (10p14)



Amyotrophic lateral sclerosis 12 - ALS12 (12.55)
396ORAI calcium release-activated calcium modulator 1
ORAI1 (12q24.31)



Tubular aggregate myopathy 2 - TAM2 (5.34)
397Paired Box gene 7
PAX7 (1p36.13)



Congenital Myopathy related to PAX7 - (3.60)
398Paired-like aristaless homeobox protein 2A
PHOX2A (11q13.2)



Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
399Paraplegin(M)
SPG7 (16q24.3)



Spastic paraplegia 7 - SPG7 (15.24)
400Patatin-like phospholipase domain containing 6
PNPLA6 (19p13.3-p13.2)



Spastic paraplegia 39, autosomal recessive - SPG39 (15.41)
401Patatin-like phospholipase domain containing 8(M)
PNPLA8 (7q31.1)



Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
402Peptidyl-tRNA Hydrolase 2(M)
PTRH2 (17q23.1)



Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.68)
403Periaxin
PRX (19q13)



Charcot-Marie-Tooth disease, type 4F - CMT4F (14.29, 14.45)
Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.29, 14.45)
404Perilipin 4
PLIN4 (19p13.3)



Distal Myopathy - (4.28)
405Peripheral myelin protein 22
PMP22 (17p12-p11.2)



Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.42)
Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.42)
Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.42)
Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.42)
406peripheral myelin protein-2
PMP2 (8q21.13)



Charcot-Marie Tooth disease, demyelinating type 1G - CMT1G (14.8)
407Peripherin
PRPH (12q13.12)



Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.70)
408Perlecan
HSPG2 (1p36.1-p34)



Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.8)
Schwartz-Jampel syndrome, type 1 - SJS1 (6.8)
409Peroxisomal biogenesis factor 7
PEX7 (6q21-q22)



Refsum disease, adult - RD (13.96)
410Phenylalanine-tRNA synthetase 2(M)
FARS2 (6p25.1)



Spastic paraplegia 77, autosomal recessive - SPG77 (15.65)
411Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein
PIGK (1p31.1)



Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy - NEDHCAS (13.101)
412Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PIP5K1C (19p13.3)



Lethal congenital contractural syndrome 3 - LCCS3 (12.80)
413Phosphofructokinase, muscle
PFKM (12q13.3)



Glycogen storage disease VII - PFKM (9.5)
414Phosphoglucomutase 1
PGM1 (1p31)



Glycogen storage disease XIV - GSD14 (9.7)
415Phosphoglycerate kinase 1
PGK1 (Xq13)



posphoglycerate kinase deficiency - (9.13)
416Phosphoglycerate mutase 2 (muscle)
PGAM2 (7p13-p12)



Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
Glycogen storage disease X - GSD10 (9.14)
417Phospholamban
PLN (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)
418Phospholipase D family, member 3
PLD3 (19q13.2)



Spinocerebellar ataxia 46 - SCA46 (13.42)
419Phosphoribosyl pyrophosphate synthetase 1
PRPS1 (Xq21.32-q24)



charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.40)
420Phosphorylase b kinase, alpha submit
PHKA1 (Xq13)



glycogen storage disease, type IXD - GSD9D (9.6)
421Phosphoserine Aminotransferase 1
PSAT1 (9q21.2)



Progressive neuropathy - (12.104)
422Phytanoyl-CoA 2-hydroxylase
PHYH (10q13)



Refsum disease, adult - RD (13.95)
423Piezo-type mechanosensitive ion channel component 2
PIEZO2 (18p11.22-p11.21)



Arthrogryposis, distal, type 5 - DA5 (16.16, 16.17)
Arthrogryposis, distal, type 3 - DA3 (16.16, 16.17)
424Plakophilin 2
PKP2 (12p11.21)



Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.110)
425Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHG5 (1p36)



spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.84)
Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.84)
426Plectin
PLEC (8q24.3)



Myasthenic syndrome, with plectin defect - (1.46, 1.63, 5.21, 11.36)
Limb girdle muscular dystrophy with ophthalmoplegia - (1.46, 1.63, 5.21, 11.36)
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.46, 1.63, 5.21, 11.36)
Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.46, 1.63, 5.21, 11.36)
427Poly(A) binding protein, nuclear 1
PABPN1 (14q11.2-q13)



Oculopharyngeal muscular dystorphy - OPMD (5.18)
428Polymerase (DNA directed), gamma(M)
POLG (15q25)



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.90, 16.33, 16.39, 16.47, 16.48)
Mitochondrial DNA depletion syndrome 4A (Alpers type) - MTDPS4A (13.90, 16.33, 16.39, 16.47, 16.48)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.90, 16.33, 16.39, 16.47, 16.48)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.90, 16.33, 16.39, 16.47, 16.48)
spinocerebellar ataxia with epilepsy, included - SCAE (13.90, 16.33, 16.39, 16.47, 16.48)
Mitochondrial DNA depletion syndrome 4B (MNGIE type) - MTDPS4B (13.90, 16.33, 16.39, 16.47, 16.48)
429polynucleotide kinase 3’-phosphatase
PNKP (19q13.33)



Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.78, 14.90)
Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.78, 14.90)
430Popeye domain-containing protein 3
POPDC3 (6q21)



LGMDR26 - LGMDR26 (1.57)
431Potassium channel, inwardly rectifying, dubfamily J, member 2
KCNJ2 (17q24.3)



Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.129, 10.142, 10.153)
Long QT syndrome-7 - LQT7 (10.129, 10.142, 10.153)
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (10.129, 10.142, 10.153)
Atrial fibrillation, 9 - ATFB9 (10.129, 10.142, 10.153)
432Potassium chloride cotransporter KCC3
SLC12A6 (15q13-q15)



Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.120)
Charlevoix disease - SLC12A6 (14.120)
Andermann syndrome - SLC12A6 (14.120)
433Potassium inwardly-rectifying channel, subfamily J, member 5
KCNJ5 (11 q24.3)



Andersen-Tawill syndrome cardiodysrythmic periodic paralysis - (10.130, 10.136)
Long QT syndrome 13 - LQT13 (10.130, 10.136)
434Potassium voltage-gated channel, Isk-related family, member 1
KCNE1 (21q22.12)



Long QT syndrome-5 - LQT5 (10.127, 10.144)
Jervell and Lange-Nielsen cardio-auditory syndrome - JLNS2 (10.127, 10.144)
435Potassium voltage-gated channel, Isk-related family, member 2
KCNE2 (21q22.12)



Long QT syndrome-6 - LQT6 (10.128, 10.148)
Atrial fibrillation, 4 - ATFB4 (10.128, 10.148)
436Potassium voltage-gated channel, Isk-related family, member 3
KCNE3 (11q13.4)



Hypokalaemic periodic paralysis - HOKPP (7.11, 10.169)
Brugada syndrome 6 - BRGDA6 (7.11, 10.169)
437Potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ1 (11p15.5-p15.4)



Long QT syndrome-1 - LQT1 (10.123, 10.141, 10.143, 10.147)
Romano-Ward syndrome - RWS (10.123, 10.141, 10.143, 10.147)
jervell and lange-nielsen syndrome - JLNS1 (10.123, 10.141, 10.143, 10.147)
Atrial fibrillation, 3 - ATFB3 (10.123, 10.141, 10.143, 10.147)
438Potassium voltage-gated channel, shaker-related subfamily, member 1
KCNA1 (12p13)



Episodic ataxia with myokymia - EA1 (7.12)
439Potassium voltage-gated channel, shaker-related subfamily, member 5
KCNA5 (12p13.32)



atrial fibrillation, familial - ATFB7 (10.151)
440Potassium voltage-gated channel, Shal-related subfamily, member 3
KCND3 (1p13.2)



Spinocerebellar ataxia 19 - SCA19 (10.172, 13.17)
Brugada syndrome 9 - BRGDA9 (10.172, 13.17)
441Potassium voltage-gated channel, Shaw-related subfamily, member 3
KCNC3 (19q13.33)



Spinocerebellar ataxia 13 - SCA13 (13.12)
442PR Domain-Containing Protein 16
PRDM16 (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)
443PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
PRDM12 (9q34.12)



Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.108)
444Presenilin 1
PSEN1 (14q24.2)



Cardiomyopathy, dilated, 1U - CMD1U (10.56)
445Presenilin 2
PSEN2 (1q42.13)



Cardiomyopathy, dilated, 1W - CMD1V (10.57)
446Prodynorphin
PDYN (20p13-p12-3)



Spinocerebellar ataxia 23 - SCA23 (13.21)
447Profilin 1
PFN1 (17p13.2)



Amyotrophic lateral sclerosis 18 - ALS18 (12.61)
448Proloferating cell nuclear antigen
PCNA (20p12.3)



Ataxia telangiectasia-like disorder 2 - ATLD2 (13.93)
449Prolyl endopeptidase-like
PREPL (2p21)



Myasthenic syndrome, congenital, 22 - CMS22 (11.30)
450Protein kinase C, gamma
PRKCG (19q13.42)



Spinocerebellar ataxia 14 - SCA14 (13.13)
451Protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKAG2 (7q31)



glycogen storage disease of heart, lethal congenital - (9.10, 10.5)
Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome - CMH6 (9.10, 10.5)
452Protein O-Glucosyltransferase 1
POGLUT1 (3q13.33)



Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.50)
453protein O-linked mannose N-acetylglucosaminyltransferase 2
POMGNT2 (3p22.1)



Walker-Warburg syndrome - WWS (1.55, 2.25)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (1.55, 2.25)
LGMDR24 - (1.55, 2.25)
454Protein phosphatase 2 regulatory subunit B, beta isoform
PPP2R2B (5q32)



Spinocerebellar ataxia 12 - SCA12 (13.11)
455Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
HACD1 (10p12.33)



Congenital myopathy related to PTPLA - (3.49, 10.108)
Arrhythmogenic right ventricular dysplasia, familial, 6 - ARVD6 (3.49, 10.108)
Arrhythmogenic right ventricular cardiomyopathy 6 - ARVC6 (3.49, 10.108)
456Protein-O-mannose kinase
POMK (8p11.21)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (1.66, 2.41)
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 - MDDGC12 (1.66, 2.41)
457Protein-O-mannosyltransferase 1
POMT1 (9q34.1)



Walker-Warburg syndrome - WWS (1.40, 2.20, 2.32)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.40, 2.20, 2.32)
Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 - MDDGB1 (1.40, 2.20, 2.32)
Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.40, 2.20, 2.32)
458Protein-O-mannosyltransferase 2
POMT2 (14q24.3)



Walker-Warburg syndrome - WWS (1.43, 2.21, 2.29)
Muscle-eye-brain disease - MEB (1.43, 2.21, 2.29)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.43, 2.21, 2.29)
Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.43, 2.21, 2.29)
459Proteolipid protein 1
PLP1 (Xq22)



Spastic paraplegia 2 - SPG2 (15.73)
460Prune exopolyphosphatase 1
PRUNE1 (1q21.3)



Spinal muscular atrophy, related to PRUNE1 - (12.96)
461Pseudouridylate synthase 1(M)
PUS1 (12q24.33)



Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.60)
462Pumilio, Drosophila, Homologh of, 1
PUM1 (1p35.2)



Spinocerebellar ataxia 47 - SCA47 (13.43)
463Pyridine nucleotidedisulphide oxidoreductase domain 1
PYROXD1 (12p12.1)



Early-onset myofibrillar myopathy with PYRODX1 defect - (1.64, 3.62, 5.9)
LGMD related to PYROXD1 - (1.64, 3.62, 5.9)
Congenital Myopathy related to PYROXD1 - (1.64, 3.62, 5.9)
464Pyruvate dehydrogenase kinase, isoenzyme 3(M)
PDK3 (Xp22.11)



Charcot-Marie-Tooth neuropathy X-linked 6 - (14.41)
465RAB7, member RAS oncogene family
RAB7A (3q21)



Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.48)
466Rabphilin 3A
RPH3A (12q23.3)



Congenital myasthenic syndrome related to RPH3A - (11.40)
467RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)
RBCK1 (20p13)



Polyglucosan storage myopathy - (9.11)
468Rapsyn
RAPSN (11p11.2-p11.1)



Myasthenic syndrome, congenital - CMS1D (11.19, 16.28)
Fetal akinesia deformation sequence 2 - FADS2 (11.19, 16.28)
469Receptor accessory protein 1(M)
REEP1 (2p11.2)



Spastic paraplegia 31 - SPG31 (12.23, 15.12)
Distal spinal muscular atrophy, type VB - DSMAVB (12.23, 15.12)
470Receptor expression-enhancing proten 2
REEP2 (5q31.2)



Spastic paraplegia 72, autosomal recessive - SPG72 (15.19, 15.61)
Spastic paraplegia 72, autosomal dominant - SPG72 (15.19, 15.61)
471Replication Factor C Subunit 1
RFC1 (4p14)



Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome - CANVAS (14.119)
472Reticulon 2
RTN2 (19q13)



Spastic paraplegia 12 - SPG12 (15.7)
473Rho guanine nucleotide exchange factor 10
ARHGEF10 (8p23)



Slowed nerve conduction velocity, autosomal dominant - NCV (14.10)
474Ribitol xylosyltransferase 1 (transmembrane protein 5)
RXYLT1 (12q14.2)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
475Ribonuclease H1(M)
RNASEH1 (2p25.3)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.40)
476Ribonucleotide reductase M2 B (TP53 inducible)(M)
RRM2B (8q23.1)



Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) - MTDP8A (16.37, 16.50, 16.51)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.37, 16.50, 16.51)
477Ring finger protein 216
RNF216 (7p22.1)



Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.97)
478Ring finger protein 220
RNF220 (1p34.1)



Leukodystrophy with ataxia and sensorineural deafness - (13.99)
479RNA binding motif protein 20
RBM20 (10q25.3)



Cardiomyopathy, dilated, 1DD - CMD1DD (10.65)
480RNA binding motif protein 7
RBM7 (11q23.2)



Spinal motor neuropathy - (12.31)
481RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
RUBCN (3q29)



Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.70)
482Ryanodine receptor 1 (skeletal)
RYR1 (19q13.1)



myopathy, congenital, with fiber-type disproportion - CFTD (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
Fetal akinesia deformation sequence related to RYR1 - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
Central core disease - CCD (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
Malignant hyperthermia susceptibility 1 - MHS1 (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
Dusty core disease related to RYR1 - DuCD (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
centronuclear myopathy, recessive - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
minicore myopathy with external ophthalmoplegia - (2.53, 3.18, 3.25, 3.29, 3.30, 3.31, 3.44, 3.66, 5.32, 8.1, 16.30)
483Ryanodine receptor 2
RYR2 (1q43)



Arrhythmogenic right ventricular cardiomyopathy 2 - ARVC2 (10.104, 10.115)
Arrhythmogenic right ventricular dysplasia 2 - ARVD2 (10.104, 10.115)
Ventricular tachycardia, catecholaminergic polymorphic - CPVT (10.104, 10.115)
Ventricular tachycardia, stress-induced polymorphic - VTSIP (10.104, 10.115)
484Ryanodine receptor 3
RYR3 (15q13-q14)



Myopathy with nemaline bodies - (3.13)
485Sac domain-containing inositol phosphatase 3
FIG4 (6q21)



charcot-marie-tooth disease, type 4j - CMT4J (12.54, 14.32)
Amyotrophic lateral sclerosis 11 - ALS11 (12.54, 14.32)
486Sacsin
SACS (13q12)



Charcot-Marie-Tooth disease, axonal; related to SACS - (13.94, 14.93, 15.81)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.94, 14.93, 15.81)
Spastic ataxia Charlevoix-Saguenay type - SPAX6 (13.94, 14.93, 15.81)
Spastic ataxia, Charlevoix-Saguenay type - SACS (13.94, 14.93, 15.81)
487Sarcoglycan, epsilon
SGCE (7q21-q22)



Myoclonus-dystonia syndrome - DYT11 (16.2)
488SCY1 like pseudokinase 1
SCYL1 (11q13.1)



Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.76)
489Seipin
BSCL2 (11q12-q13.5)



Spastic paraplegia 17 - SPG17 (12.22, 15.9)
Neuronopathy, distal hereditary motor, type V - HMN5 (12.22, 15.9)
490Selenoprotein N1
SELENON (1p36.13)



Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.16, 3.32, 5.12)
myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.16, 3.32, 5.12)
Multiminicore disease, classical form - (2.13, 3.16, 3.32, 5.12)
Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.16, 3.32, 5.12)
Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.16, 3.32, 5.12)
Rigid spine syndrome - RSMD1 (2.13, 3.16, 3.32, 5.12)
491Senataxin
SETX (9q34.13)



Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.47, 13.87)
Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.47, 13.87)
Spinocerebellar ataxia with axonal neuropathy type 2 - SCAN2 (12.47, 13.87)
492Septin 9
SEPT9 (17q25)



Familial brachial plexus neuropathy - HNA (14.122)
493Sequestosome 1
SQSTM1 (5q35.3)



Welander-like distal myopathy - (4.8, 4.21, 12.74)
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.8, 4.21, 12.74)
Myopathy, distal, with rimmed vacuoles - DMRV (4.8, 4.21, 12.74)
494Serine palmitoyltransferase long chain base subunit 2
SPTLC2 (14q24.3)



Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.99)
495Serine palmitoyltransferase subunit 1
SPTLC1 (9q22.2)



Amyotrophic lateral sclerosis - (12.77, 14.97)
Neuropathy, hereditary sensory, type 1 - HSN1 (12.77, 14.97)
Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (12.77, 14.97)
496SET binding factor 1
SBF1 (22q13.33)



Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.24)
497SET binding factor 2
SBF2 (11p15.4)



charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.23)
498SH3 and cysteine rich domain 3
STAC3 (12q13.3)



Myopathy, congenital, with malignant hyperthermia susceptibility - (3.54, 3.55)
Myopathy, congenital, Bailey-Bloh - MYPBB (3.54, 3.55)
499Sigma non-opioid intracellular receptor 1
SIGMAR1 (9p13.3)



spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.59)
Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.59)
500SIL1 homolog, endoplasmic reticulum chaperone
SIL1 (5q31)



Marinesco-Sjogren syndrome - MSS (13.89)
501Slow troponin C
TNNC1 (3p21.3-p14.3)



Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.61)
Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.61)
502Slow troponin T
TNNT1 (19q13.4)



Nemaline myopathy 5 - NEM5 (3.5)
503Small Muscle Protein, X-linked
SMPX (Xp22.12)



Distal Myopathy with protein inclusions - (4.27)
504Sodium channel, voltage-gated, type I, beta subunit
SCN1B (19q13.11)



Brugada syndrome 5 - BRGDA5 (10.158, 10.168)
Atrial fibrillation, 13 - ATFB13 (10.158, 10.168)
505Sodium channel, voltage-gated, type II, beta subunit
SCN2B (11q23.3)



Atrial fibrillation, 14 - ATFB14 (10.159)
506Sodium channel, voltage-gated, type III, beta subunit
SCN3B (11 q24.1)



Brugada syndrome 7 - BRGDA7 (10.161, 10.170)
Atrial fibrillation, 16 - ATFB16 (10.161, 10.170)
507Sodium channel, voltage-gated, type IV, alpha
SCN4A (17q23-q25.3)



Sodium-channel myasthenia - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Congenital Myopathy related to SCN4A - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Severe foetal hypokinesia related to SCN4A - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Paramyotonia congenita of Von Eulenburg - PMC (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Hyperkalemic periodic paralysis - HYPP (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Potassium-aggravated myotonia - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Myotonia potassium-aggravatd - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Hyperkalemic periodic paralysis, type 2 - HOKPP2 (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
Myasthenic syndrome, acetazolamide-responsive - (3.61, 7.3, 7.4, 7.6, 7.7, 11.24, 16.32)
508Sodium channel, voltage-gated, type IV, beta subunit
SCN4B (11q23.3)



Long QT syndrome 10 - LQT10 (10.133, 10.162)
Atrial fibrillation, 17 - ATFB17 (10.133, 10.162)
509Sodium voltage-gated channel alpha subunit 11
SCN11A (3p22.2)



Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.107, 14.117)
Episodic pain syndrome, familial 3 - FEPS3 (14.107, 14.117)
510Sodium voltage-gated channel alpha subunit 9
SCN9A (2q24.3)



Erythromelalgia, Primary - SFNP (14.102, 14.116)
Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.102, 14.116)
511Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
SLC16A1 (1p13.2)



Erythrocyte lactate transporter defect - (9.17)
512Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3
SLC18A3 (10q11.2)



Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.29)
513Solute carrier family 22 member 5
SLC22A5 (5q31)



Carnitine deficiency, systemic primary - CDSP (9.19)
514Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)
SLC25A1 (22q11.21)



Presynaptic congenital myasthenic syndrome 23 - CMS23 (11.31)
515Solute carrier family 25 member 42(M)
SLC25A42 (19p13.11)



Mitochondrial myopathy - (16.58)
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression - MECREN (16.58)
516solute carrier family 25 member 46(M)
SLC25A46 (5q22.1)



Neuropathy, hereditary motor and sensory, type VIB - HSMN6B (12.92)
517Solute carrier family 33 (acetyl- CoA transporter)
SLC33A1 (3q25.3)



Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
518Solute carrier family 5 (sodium/choline cotransporter), member 7
SLC5A7 (2q12.31)



Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.28, 12.26)
Congenital myasthenic syndrome with episodic apnea - CMS20 (11.28, 12.26)
519Solute carrier family 52, riboflavin transporter, member 2
SLC52A2 (8q24)



Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.94)
520Solute carrier family 52, riboflavin transporter, member 3
SLC52A3 (20p13)



Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.93)
521Solute carrier family 9, member 1
SLC9A1 (1p36.11)



Spinocerebellar ataxia, autosomal recessive 19 - SCAR19 (13.74)
522Solute carrier family 9, member 3, regulator 1
SLC9A3R1 (17q25.1)



Hereditary peripheral neuropathy - (14.129)
523Sorbitol Dehydrogenase
SORD (15q21.1)



Sorbitol dehydrogenase deficiency with peripheral neuropathy - SORDD (14.94)
524sorting nexin 14
SNX14 (6q14.3)



Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.75)
525Spartin
SPG20 (13q12.3)



Spastic paraplegia 20 - SPG20 (15.30)
526Spastin
SPAST (2p24-p21)



Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
Spastic paraplegia 4 - SPG4 (15.2)
527Spastizin
ZFYVE26 (14q24.1)



Spastic paraplegia 15 - SPG15 (15.28)
528Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
SYNE1 (6q25)



Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.82, 13.63, 16.21)
Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.82, 13.63, 16.21)
Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.82, 13.63, 16.21)
Arthrogryposis multiplex congenita with nesprin-1 defect - AMCM (1.6, 10.82, 13.63, 16.21)
529Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
SYNE2 (14q23.2)



Nesprin-2 related muscular dystrophy - EDMD (1.7)
530Spectrin, alpha, nonerythrocytic 1
SPTAN1 (9q34.11)



Distal motor neuropathy - (12.38)
531Spectrin, Beta, Nonerythrocytic, 2
SPTBN2 (11q13.2)



Spinocerebellar ataxia 5 - SCA5 (13.5, 13.69)
Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.69)
532Spectrin, Beta, Nonerythrocytic, 4
SPTBN4 (19q13)



Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.51)
533SPEG complex locus
SPEG (2q35)



Centronuclear myopathy with dilated cardiomyopathy - (3.27)
534SPG11 vesicle trafficking associated, Spatacsin
SPG11 (15q21.1)



Amyotrophic lateral sclerosis 5 - ALS5 (12.48, 14.89, 15.26)
Spastic paraplegia 11 - SPG11 (12.48, 14.89, 15.26)
Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.48, 14.89, 15.26)
535Sphingomyelin phosphodiesterase 4, neutral membrane
SMPD4 (2q21.1)



Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA (16.25)
536Sphingosine-1-Phosphate Lyase 1
SGPL1 (10q22.1)



Charcot-Marie-Tooth disease, axonal - (14.91)
537Sterile Alpha Motif Domain-Containing Protein 9-Like
SAMD9L (7q21.2)



Ataxia-pancytopenia syndrome - ATXPC (13.52)
538STIP1 homology and U-box containing protein 1
STUB1 (16p13.3)



Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.44, 13.71)
Spinocerebellar ataxia 48 - SCA48 (13.44, 13.71)
539Stromal interaction molecule 1
STIM1 (11p15.4)



Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (5.33, 5.39)
Tubular aggregate myopathy 1 - TAM1 (5.33, 5.39)
540Structural maintenance of chromosomes flexible hinge domain containing 1
SMCHD1 (18p11.32)



Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
541Strumpellin
KIAA0196 (8q24.13)



Spastic paraplegia 8 - SPG8 (15.4)
542Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
SDHA (5p15)



Recessive neonatal isolated DC - (10.68)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
543Succinate-CoA ligase, ADP-forming, beta subunit(M)
SUCLA2 (13q12.2-q13.3)



Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) - MTDPS5 (16.49)
544Succinate-CoA ligase, alpha subunit(M)
SUCLG1 (2p11.2)



Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) - MTDPS9 (16.52)
545Superoxide dismutase 1, soluble
SOD1 (21q22.1)



Amyotrophic lateral sclerosis 1 - ALS1 (12.43, 12.44)
Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.43, 12.44)
546Supervillin
SVIL (10p11.23)



Myofibrillar myopathy 10 - MFM10 (5.11)
547Surfeit 1(M)
SURF1 (9q34.2)



Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.33)
548Survival of motor neuron 1, telomeric
SMN1 (5q13)



Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)
Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)
Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4)
549Synaptosome associated protein 25
SNAP25 (20p12.2)



Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.26)
550Synaptotagmin 14
SYT14 (1q32.2)



Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.66)
551Synaptotagmin II
SYT2 (1q32.1)



Distal motor neuropathy related to SYT2 - (11.14, 11.15, 12.37)
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.14, 11.15, 12.37)
Myasthenic syndrome, congenital, 7B, presynaptic - CMS7B (11.14, 11.15, 12.37)
552Syntrophin, alpha 1
SNTA1 (20q11.21)



Long QT syndrome 12 - LQT12 (10.135)
553Tafazzin
TAZ (Xq28)



Cardiomyopathy, X-linked dilated - CMD3A (10.80, 10.91)
Noncompaction of left ventricular myocardium, isolated - INVM (10.80, 10.91)
Endocardial fibroelastosis-2 - G4.5 (10.80, 10.91)
Barth syndrome - BTHS (10.80, 10.91)
554Tank-binding kinase 1
TBK1 (12q14.2)



Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.75)
555TAR DNA binding protein
TARDBP (1p36.2)



amyotrophic lateral sclerosis 10 - ALS10 (12.53)
556TATA box binding protein
TBP (6q27)



Spinocerebellar ataxia 17 - SCA17 (13.15)
557Tau tubulin kinase 2
TTBK2 (15q15.2)



Spinocerebellar ataxia 11 - SCA11 (13.10)
558Tectonin beta-propeller repeat containing 2
TECPR2 (14q32)



Spastic paraplegia 49, autosomal recessive - SPG49 (15.48)
559Telethonin
TCAP (17q12)



Dilated cardiomyopathy, 1N - (1.36, 2.16, 10.26, 10.49)
Congenital musuclar dystrophy with telethonin defect - (1.36, 2.16, 10.26, 10.49)
Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.36, 2.16, 10.26, 10.49)
Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.36, 2.16, 10.26, 10.49)
560Thymidine kinase 2, mitochondrial(M)
TK2 (16q22-q23)



Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.41, 16.45)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.41, 16.45)
561Thymidine phosphorylase
TYMP (22q13.33)



Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.44)
562Thyroid hormone receptor interactor 4
TRIP4 (15q22.31)



Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.50, 12.11)
Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.50, 12.11)
563Titin
TTN (2q31)



Congenital myopathy with fatal cardiomyopathy - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Centronuclear myopathy related to TTN - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
LGMDR10 (Formerly LGMD2J) - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Lethal Congenital Contracture Syndrome related to TTN - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Tibial muscular dystrophy, tardive - TMD (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Hereditary myopathy with early respiratory failure - HMERF (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Cardiomyopathy, dilated, 1G - CMD1G (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.39, 3.26, 3.33, 3.45, 4.2, 5.10, 10.8, 10.42, 12.89)
564Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
TTPA (8q13.1-q13.3)



Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.55)
Ataxia with isolated vitamin E deficiency - TTPA (13.55)
565Torsin A
TOR1A (9q34)



Torsion dystonia, early onset - EOTD (16.1)
566Torsin A interacting protein 1
TOR1AIP1 (1q25.2)



LAP1B related muscular dystrophy - (1.9, 11.41)
Congenital myasthenic syndrome - (1.9, 11.41)
Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 11.41)
Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 11.41)
567Trafficking protein particle complex 11
TRAPPC11 (4q35.1)



Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.47, 2.43)
Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.47, 2.43)
568Trans-2,3-Enoyl-CoA Reductase-Like Protein
TECRL (4q13.1)



Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.117)
569Transforming growth factor, beta 3
TGFB3 (14q24.3)



Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.103)
Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.103)
570Transglutaminase 6
TGM6 (20p13)



Spinocerebellar ataxia 35 - SCA35 (13.31)
571Transient receptor potential cation channel subfamily C member 3
TRPC3 (4q27)



Spinocerebellar ataxia 41 - SCA41 (13.36)
572Transient receptor potential cation channel, subfamily V, member 4
TRPV4 (12q23-q24)



Scapuloperoneal spinal muscular atrophy - SPSMA (12.29, 12.30, 14.49)
Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.29, 12.30, 14.49)
Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.29, 12.30, 14.49)
573Translocase of inner mitochondrial membrane 22(M)
TIMM22 (17q13.3)



Early onset of mitochondrial myopathy - (16.71)
574Translocase of Outer Mitochondrial Membrane 70
TOMM70 (3q12.2)



Neurological impairment - (13.51)
575Transmembrane protein 126B(M)
TMEM126B (11q14.1)



Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.80)
576Transmembrane protein 168
TMEM168 (7q31.1 )



Brugada syndrome - BRGDA (10.173)
577Transmembrane protein 240
TMEM240 (1p36.33)



Spinocerebellar ataxia 19 - SCA21 (13.19)
578Transmembrane protein 43
TMEM43 (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)
579Transmembrane Protein 65
TMEM65 (8q24.13)



Mitochondrial myopathy with severe neurological manifestations - (16.65)
580Transportin 3
TNPO3 (7q32.1-q32.2)



Congenital Myopathy related to TNPO3 - (1.19, 3.63)
Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.19, 3.63)
581Transthyretin (prealbumin, amyloidosis type I)
TTR (18q12.1)



Familial amyloid neuropathy - (16.4)
582Triadin
TRDN (6q22.31)



CPVT5 - Ventricular tachycar (10.119)
583Tripartite motif containing 2
TRIM2 (4q31.3)



Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.86)
584Tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM63 (1p36.11)



Cardiac and skeletal aggregate myopathy - (5.13)
585Tripartite motif-containing 32
TRIM32 (9q33.2)



Sarcotubular myopathy - (1.37, 3.48)
Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.37, 3.48)
586Tripartite motif-containing 54
TRIM54 (2p.23.3)



Cardiac and skeletal aggregate myopathy - (5.13)
587Tripeptidyl peptidase I
TPP1 (11p15.4)



Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.62)
588TRK-fused gene
TFG (3q13)



Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.70, 15.56)
Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.70, 15.56)
Spastic paraplegia 57, autosomal recessive - SPG57 (14.70, 15.56)
589tRNA-histidine guanyltransferase 1-like protein
THG1L (5q33.3)



Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.83)
590Tropomyosin 1 (alpha)
TPM1 (15q22)



Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.100, 10.60)
Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.100, 10.60)
Left ventricular noncompaction 9 - LVNC9 (10.3, 10.100, 10.60)
591Tropomyosin 2 (beta)
TPM2 (9p13)



Arthrogryposis, distal, type 1A - DA1A (3.4, 3.42, 16.9, 16.15)
arthrogryposis, distal, type 2B - DA2B (3.4, 3.42, 16.9, 16.15)
Nemaline myopathy 4 - NEM4 (3.4, 3.42, 16.9, 16.15)
Cap myopathy, TPM2-related, included - (3.4, 3.42, 16.9, 16.15)
592Tropomyosin 3
TPM3 (1q21.2)



Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.17, 3.41)
593Troponin C Fast
TNNC2 (20q13.12)



Congenital myopathy - (3.68)
594Troponin I, cardiac
TNNI3 (19q13.4)



Cardiomyopathy, familial restrictive - RCM (10.6, 10.67, 10.78, 10.85)
Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.67, 10.78, 10.85)
Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.67, 10.78, 10.85)
595Troponin I, type 2
TNNI2 (11p15.5)



Arthrogryposis, distal, type 2B - DA2B (16.12)
596Troponin T2, cardiac
TNNT2 (1q32)



Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.40, 10.87, 10.97)
Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.40, 10.87, 10.97)
Left ventricular noncompaction 6 - LVNC6 (10.2, 10.40, 10.87, 10.97)
597Troponin T3, skeletal
TNNT3 (11p15.5)



Nemalin myopathy with distal arthrogryposis - (3.14, 16.13)
Arthrogryposis, distal, type 2B - DA2B (3.14, 16.13)
598Tryptophanyl-tRNA synthetase
WARS (14q32.2)



Neuronopathy, distal hereditary motor, type IX - HMN9 (12.25)
599Ts translation elongation factor, mitochondrial(M)
TSFM (12q14.1)



Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
600Tubulin, Alpha-4A
TUBA4A (2q35)



Amyotrophic lateral sclerosis 22 - ALS22 (12.65)
601Tubulin, beta 3
TUBB3 (16q24.3)



Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
602Twinkle mtDNA helicase
TWNK (10q23.-q24.1)



Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.56, 16.35)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.56, 16.35)
603Tyrosyl-DNA phosphodiesterase 1
TDP1 (14q31-q32)



spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.86)
604Tyrosyl-DNA phosphodiesterase 2
TDP2 (6p22.3)



Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.78)
605Tyrosyl-tRNA synthetase
YARS (1p35.1)



Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.15)
606Tyrosyl-tRNA synthetase 2, mitochondrial(M)
YARS2 (12p11.21)



Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.61)
607Ubiquilin 2
UBQLN2 (Xp11.21)



Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.58)
608Ubiquitin Carboxyl-Terminal Esterase L1
UCHL1 (4p13)



Spastic paraplegia 79, autosomal recessive - SPG79 (15.67)
609Ubiquitin-activating enzyme 1
UBA1 (Xp11.23)



Spinal muscular atrophy, distal, X-linked, 2 - (12.41)
Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.41)
610Ubiquitin-associated protein 1
UBAP1 (9p13.3)



Spastic paraplegia 80, autosomal dominant - SPG80 (15.21)
611Ubiquitin-Like Modifier Activating Enzyme 5
UBA5 (3q22.1)



Spinocerebellar ataxia, autosomal recessive 24 - SACR24 (13.79)
612UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
B4GAT1 (11q13.2)



Walker-Warburg syndrome (WWS) - MDDGA13 (2.26)
613UDP-N-acetylglucosami-nyltransferase
ALG13 (Xq23)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S
614UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
GNE (9p13.3)



Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
Nonaka myopathy - NM (4.3)
615UDP-N-acetylglucosaminyltransferase
ALG14 (1p21.3)



Congenital myasthenic syndrome related to ALG14 - (11.23)
616Unc-13 homolog A (C. elegans)
UNC13A (19p13.11)



Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.39)
617UNC45 Myosin Chaperone B
UNC45B (17q12)



Scapuloperoneal myopathy, MYH7-related - SPMM (3.65)
618V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
ERBB4 (2q34)



Amyotrophic lateral sclerosis 19 - ALS19 (12.62)
619V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
ERBB3 (12q13)



Lethal congenital contracture syndrome 2 - LCCS2 (12.79)
620V-Ha-RAS Harvey Rat Sarcoma Viral
HRAS (11p15.5)



Myopathy, congenital, With excess of muscle spindles - CMEMS (3.52)
621V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1
RAF1 (3p25.2)



Dilated cardiomyopathy related to RAF1 - CMD1NN (10.75)
622Vaccinia related kinase 1
VRK1 (14q32)



Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.10, 12.91, 14.126)
Spinal muscular atrophy, distal, autosomal recessive - DSMA (12.10, 12.91, 14.126)
Pontocerebellar hypoplasia type 1 - PCH1 (12.10, 12.91, 14.126)
623Vacuolar protein sorting 37, Yeast, homolg of, A
VPS13D (1p36.22-p36.21)



Spinocerebellar ataxia, autosomal recessive 4 - SCAR4 (13.59)
624Vacuolar protein sorting-associated protein 37A
VPS37A (8p22)



Spastic paraplegia 53, autosomal recessive - SPG53 (15.52)
625Valosin-containing protein
VCP (9p13-p12)



Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 - IBMPFD1 (1.62, 4.19, 5.29, 12.57, 14.65)
Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.62, 4.19, 5.29, 12.57, 14.65)
Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.62, 4.19, 5.29, 12.57, 14.65)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.62, 4.19, 5.29, 12.57, 14.65)
Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.62, 4.19, 5.29, 12.57, 14.65)
626Vesicle associated membrane protein (synaptobrevin 1)(M)
VAMP1 (12p13)



ataxia, spastic, 1, autosomal dominant - SPAX1 (11.33, 15.76)
Presynaptic congenital myasthenic syndrome 25 - CMS25 (11.33, 15.76)
627Vesicle-associated membrane protein-associated protein B and C
VAPB (7p15)



Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.35, 12.51)
Amyotrophic lateral sclerosis - ALS8 (12.35, 12.51)
628Vinculin
VCL (10q22.1-q23)



Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.58)
Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.58)
629VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
VMA21 (Xq28)



Myopathy, X-linked, with excessive autophagy - XMEA (5.16)
630Voltage-gated potassium channel, subfamily H, member 2
KCNH2 (7q36.1)



Long QT syndrome-2 - LQT2 (10.124, 10.140)
Short qt syndrome 1 - SQT1 (10.124, 10.140)
631Voltage-gated sodium channel type V alpha
SCN5A (3p22.2)



Progressive familial heart block, type I - PFHBI (10.125, 10.154, 10.164, 10.175, 10.41)
Hereditary bundle branch system defect - HBBD (10.125, 10.154, 10.164, 10.175, 10.41)
Cardiac conduction defect, progressive - PCCD (10.125, 10.154, 10.164, 10.175, 10.41)
Brugada syndrome - SCN5A (10.125, 10.154, 10.164, 10.175, 10.41)
Cardiomyopathy, dilated, 1E - CMD1E (10.125, 10.154, 10.164, 10.175, 10.41)
Ventricular fibrillation, idiopathic - IVF (10.125, 10.154, 10.164, 10.175, 10.41)
Ventricular fibrillation, paroxysmal familial - VF (10.125, 10.154, 10.164, 10.175, 10.41)
Long QT syndrome-3 - LQT3 (10.125, 10.154, 10.164, 10.175, 10.41)
Sick Sinus Syndrome 1, autosomal recessive - SSS1 (10.125, 10.154, 10.164, 10.175, 10.41)
Atrial fibrillation, 10 - ATFB10 (10.125, 10.154, 10.164, 10.175, 10.41)
632Von Willebrand factor A domain Containing Protein 3B
VWA3B (2q11.2)



Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.77)
633Von Willebrand factor A domain-containing protein 1
VWA1 (1p36.33)



Neuropathy, hereditary motor, with myopathic features - HMNMYO (12.101)
634VPS41 Subunit of Hops Complex
VPS41 (7p14.1)



Spinocerebellar ataxia - SCAR29 (13.84)
635W-Ray Repair, Complementing Defective, In Chinese Hamster, 1
XRCC1 (19q13.31)



Spinocerebellar ataxia, autosomal recessive 26 - SCAR26 (13.81)
636WD Repeat-Containing Protein 73
WDR73 (15q24-q26)



Galloway-Mowat syndrome 1 - GAMOS1 (13.60)
637WNK lysine deficient protein kinase 1
WNK1 (12p.13)



neuropathy, hereditary sensory and autonomic, type iia - HSAN2 (14.100)
638WW Domain-Containing Oxidoreductase(M)
WWOX (16q23.1-q23.2)



Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.67)
639Zinc finger and BTB domain-containing protein 42
ZBTB42 (14q32.33)



Lethal Congenital Contracture Syndrome 6 - LCCS6 (12.83)
640Zinc finger homeobox 2
ZFHX2 (14q11.2)



Marssili syndrome (insensitivity to pain, congenital, AD) - MARSIS (14.115)
641Zinc finger, FYVE domain containing 27
ZFYVE27 (10q24.2)



Spastic paraplegia 33 - SPG33 (15.13)