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



Spastic paraplegia 45, autosomal recessive - SPG45 (15.40)
278 kb inter-chromosomal insertion (from chro 8q24.3)
charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3 (14.34)
3A kinase (PRKA) anchor protein (yotiao) 9
AKAP9 (7q21.2)



Long QT syndrome 11 - LQT11 (10.131)
4Abhydrolase domain containing 5
ABHD5 (3p25.3-p24.3)



Chanarin-Dorfman syndrome - CDS (9.25)
5Acetylcholinesterase collagen-like tail subunit
COLQ (3p25)



Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency - EAD (11.11)
6Acid alpha-glucosidase preproprotein
GAA (17q25.2-q25.3)



Limb-Girdle, Muscular dystrophy, type 2V - LGMD2V (1.42, 9.1, 10.90)
Glycogen storage disease II - GSDII (1.42, 9.1, 10.90)
7Actin-filament binding protein Frabin
FGD4 (12p11.21)



Charcot-Marie-Tooth neuropathy Type 4H - CMT4H (14.29)
8Actin, alpha, cardiac muscle precursor
ACTC1 (15q11-q14)



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



Hypertrophic cardiomyopathy related to actinin-2 - (10.24, 10.62)
dilated cardiomyopathy, 1aa - CMD1AA (10.24, 10.62)
10activating signal cointegrator 1 complex subunit 1
ASCC1 (10q22.1)



Spinal muscular atrophy with congenital bone fractures 2 - SMABF2 (12.11)
11Activin A receptor, type II-like kinase 2
ACVR1 (2q23-q24)



Fibrodysplasia ossificans progressiva - FOP (5.20)
12acyl-CoA dehydrogenase family member 9(M)
ACAD9 (3q21.3)



ACAD9-deficient mild myopathy - (9.24)
13Acyl-Coenzyme A dehydrogenase, very long chain(M)
ACADVL (17p13)



Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.23)
14adaptor-related protein complex 4, beta 1 subunit
AP4B1 (1p13.2)



Spastic paraplegia 47, autosomal recessive - SPG47 (15.42)
15Adaptor-related protein complex 4, mu 1 subunit
AP4M1 (7q22.1)



Spastic paraplegia 50, autosomal recessive - SPG50 (15.45)
16adaptor-related protein complex 4, sigma 1 subunit
AP4S1 (14q12)



Spastic paraplegia 52, autosomal recessive - SPG52 (15.47)
17adaptor-related protein complex 4, sigma 1 subunit(M)
C12orf65 (12q24.31)



Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)
18Adaptor-related protein complex 5, zeta 1 subunit
AP4E1 (15q21.2)



Spastic paraplegia 51, autosomal recessive - SPG51 (15.46)
19adenosine monophosphate deaminase 2
AMPD2 (1p13.3)



Spastic paraplegia 63, autosomal recessive - SPG63 (15.55)
20Adénylosuccinate synthase-like
ADSSL1 (14q32-33)



Adolescent onset distal myopathy - (4.18)
21Adipose triglyceride lipase (desnutrin)
PNPLA2 (1p15.5)



Neutral lipid storage disease without ichthyosis - NLSDM (9.26)
22ADP-ribosylation factor-like 6 interacting protein 1
ARL6IP1 (16p12.3)



Spastic paraplegia 61, autosomal recessive - SPG61 (15.53)
23AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)
AFG3L2 (18p11-q11)



Spinocerebellar ataxia 28 - SCA28 (13.25, 15.73)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.25, 15.73)
24Agrin
AGRN (1p36.33)



Familial limb girdle myasthenia related to agrin - CMS1B (11.14)
25Alanyl-tRNA synthetase
AARS (16q22.1)



Dominant distal hereditary motor neuropathy - (12.22, 14.54)
Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N (12.22, 14.54)
26Alanyl-tRNA synthetase 2, mitochondrial(M)
AARS2 (6p21.1)



Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.31)
27Aldehyde dehydrogenase 3A2
ALDH3A2 (17p11.2)



Aldehyde dehydrogenase, family 3, subfamily A, member 2 - ALDH3A2 (15.63)
Fatty aldehyde dehydrogenase - FALDH (15.63)
Sjogren-Larsson syndrome - SLS (15.63)
28Alpha 1 type VI collagen
COL6A1 (21q22.3)



Bethlem myopathy - (2.2, 2.6)
Ullrich congenital muscular dystrophy - UCMD (2.2, 2.6)
29Alpha 2 type VI collagen
COL6A2 (21q22.3)



Bethlem myopathy - (2.3, 2.5, 2.7, 2.12)
Ullrich scleroatonic muscular dystrophy - UCMD (2.3, 2.5, 2.7, 2.12)
myosclerosis, autosomal recessive - (2.3, 2.5, 2.7, 2.12)
30Alpha 3 type VI collagen
COL6A3 (2q37)



Bethlem myopathy - (2.4, 2.8)
Ullrich congenital muscular dystrophy - UCMD (2.4, 2.8)
31Alpha actin, skeletal muscle
ACTA1 (1q42.1)



Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.45, 3.3, 3.14, 3.40, 10.95)
Nemaline myopathy 3 - NEM3 (2.45, 3.3, 3.14, 3.40, 10.95)
myopathy, congenital, with fiber-type disproportion - CFTD (2.45, 3.3, 3.14, 3.40, 10.95)
Left ventricular noncompaction 4 - LVNC4 (2.45, 3.3, 3.14, 3.40, 10.95)
32Alpha kinase 3
ALPK3 (15q25.3)



Cardiomyopathy, familial hypertrophic 27 - CMH27 (10.28)
33Alpha sarcoglycan
SGCA (17q21)



Muscular dystrophy, limb-girdle, type 2D - LGMD2D (1.24)
34Alpha-1,3/1,6-mannosyltransferase
ALG2 (9q31.1)



Congenital myasthenic syndrome related to ALG2 - (11.20)
35Alsin
ALS2 (2q33.2)



Amyotrophic lateral sclerosis, juvenile - ALS2 (12.39, 15.64)
Primary lateral sclerosis, juvenile - PLSJ (12.39, 15.64)
Spastic paralysis, infantile onset ascending - IAHSP (12.39, 15.64)
36Amphiphysin
BIN1 (2q14)



Centronuclear myopathy, related to BIN1, dominant - (3.22, 3.23)
Centronuclear myopathy, related to BIN1, recessive - (3.22, 3.23)
37Amylo-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)
38Androgen receptor
AR (Xq11.2-q12)



Spinal and bulbar muscular atrophy of Kennedy - SBMA (12.34)
Kennedy disease - KD (12.34)
39Angiogenin
ANG (14q11.2)



amyotrophic lateral sclerosis 9 - ALS9 (12.46)
40Ankyrin 2
ANK2 (4q25-q27)



Long QT syndrome-4 - LQT4 (10.124)
41Ankyrin repeat domain 1 (cardiac muscle)
ANKRD1 (10q23.33)



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)
42Annexin A11
ANXA11 (10q23.3)



Amytrophic lateral sclerosis 23 - ALS23 (12.60)
43Anoctamin 10
ANO10 (3p22.1-p21.3)



Spinocerebellar ataxia, autosomal recessive 10 - SCAR10 (13.60)
44Anoctamin 5
ANO5 (11p14-12)



Early onset calf distal myopathy - (1.32, 4.13)
Muscular dystrophy, limb-girdle, type 2L - LGMD2L (1.32, 4.13)
45Apoptosis-inducing factor, Mitochondria-associated 1(M)
AIFM1 (Xq24-q26.1)



Combined Oxidative phosphorylation Deficiency 6 - COXPD6 (14.35, 16.42)
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.35, 16.42)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.35, 16.42)
Cowchock syndrome - NAMSD (14.35, 16.42)
46Aprataxin
APTX (9p13.3)



Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia - EAOH (13.51)
47Ataxia telangiectasia mutated
ATM (11q22.3)



ataxia telangiectasia - AT (13.80)
48Ataxin 1
ATXN1 (6p22.3)



Spinocerebellar ataxia 1 - SCA1 (13.1)
Olivopontocerebellar atrophy I - OPCA1 (13.1)
49Ataxin 10
ATXN10 (22q13.31)



Spinocerebellar ataxia 10 - SCA10 (13.9)
50Ataxin 2
ATXN2 (12q24.12)



Spinocerebellar ataxia 2 - SCA2 (12.50, 13.2)
Olivopontocerebellar atrophy II - OPCA (12.50, 13.2)
Amyotrophic lateral sclerosis 13 - ALS13 (12.50, 13.2)
51Ataxin 3
ATXN3 (14q32.12)



Machado-Joseph disease - MJD (13.3)
Spinocerebellar ataxia 3 - SCA3 (13.3)
52Ataxin 7
ATXN7 (3p14)



Spinocerebellar ataxia 7 - SCA7 (13.7)
Olivopontocerebellar atrophy III - OPCA3 (13.7)
53Ataxin 8 opposite strand
ATXN8OS (13q21.33)



Spinocerebellar ataxia 8 - SCA8 (13.8)
54Atlastin GTPase 1
ATL1 (14q22.1)



Spastic paraplegia 3, autosomal dominant (Strumpell disease) - SP3A (14.97, 15.1)
Neuropathy, hereditary sensory, type ID - HSN1D (14.97, 15.1)
55atlastin GTPase 3
ATL3 (11q13.1)



Hereditary sensory neuropathy type IF - HSN IF (14.99)
56ATP-binding cassette, sub-family C (member 9)
ABCC9 (16p13.1)



Cardiomyopathy, dilated, 1O - CMD1O (10.50)
57ATPase, Ca++ transporting, fast twitch 1
ATP2A1 (16p12.1)



Brody myopathy - ATP2A1 (6.8)
58ATPase, Cu++ transporting, alpha polypeptide
ATP7A (Xq13-q21)



Spinal muscular atrophy, distal, x-linked 3 - SMAX3 (12.36)
59ATPase, Na+/K+ transporting, alpha-1 polypeptide
ATP1A1 (1p13.1)



Charcot-Marie-Tooth disease, axonal, type 2DD - CMT2DD (14.68)
60ATPase, Type 13A2(M)
ATP13A2 (1q36.13)



Spastic paraplegia 78, autosomal recessive - SPG78 (15.61)
61Atypical kinaseADCK3, mitochondrial(M)
ADCK3 (1q42.13)



spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.59)
62Autophagy 5, S. Cerevisiae, Homolog of
ATG5 (6q21)



Spinocerebellar ataxia, autosomal recessive 25 - SCAR25 (13.74)
63BCL2-associated athanogene 3
BAG3 (10q25.2-q26.2)



myofibrillar myopathy with bag3 defect - (5.7, 10.69, 14.67)
Charcot-Marie-Tooth disease, axonal, related to BAG3 - (5.7, 10.69, 14.67)
Dilated cardiomyopathy related to BAG3 - CMD1HH (5.7, 10.69, 14.67)
64Beta sarcoglycan
SGCB (4q12)



Muscular dystrophy, limb-girdle, type 2E - LGMD2E (1.25)
65Beta-1,3-N-acetylgalacto-saminyltransferase 2
B3GALNT2 (1q42.3)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li - MDDGA11 (2.37)
66beta-1,4-N-acetyl-galactosaminyl transferase 1
B4GALNT1 (12q13.3)



Spastic paraplegia 26 - SPG26 (15.31)
67Bicaudal D homolog 2 (Drosophila)
BICD2 (9q22.31)



Spinal muscular atrophy, lower extremity, autosomal dominant 2 - SMALED2 (12.31)
68blood vessel epicardial substance
BVES (6q21)



Limb-Girdle, Muscular dystrophy, type 2X - LGMD2X (1.44)
69Brain expressed, associated with Nedd42
BEAN1 (16q21)



spinocerebellar ataxia-31 - SCA31 (13.28)
70Calcium channel, voltage-dependent, beta 2 subunit
CACNB2 (10p12)



brugada syndrome 4 - (10.161)
71Calcium channel, voltage-dependent, beta 4 subunit
CACNB4 (2q22-q23)



episodic ataxia type 5, included - EA5 (13.43)
72Calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA1C (12p13.3)



Timothy syndrome - LQT8 (10.128, 10.160)
brugada syndrome 3 - (10.128, 10.160)
73Calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNA1S (1q32)



Congenital myopathy with ophthalmoplegia related to CACNA1S - (3.47, 7.8, 8.5)
Hypokalemic periodic paralysis - CACNL1A3 (3.47, 7.8, 8.5)
Hypokalaemic periodic paralysis, type 1 - hypoKPP1 (3.47, 7.8, 8.5)
Malignant hyperthermia susceptibility 5 - MHS5 (3.47, 7.8, 8.5)
74Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1A (19p13.13)



Episodic ataxia, type 2 - EA2 (7.9, 7.10, 13.6, 13.41, 13.46)
Cerebellar ataxia, paroxymal, acetazolamide-responsive - CAPA (7.9, 7.10, 13.6, 13.41, 13.46)
Acetazolamide-responsive hereditary paroxymal cerebellar ataxia - APCA (7.9, 7.10, 13.6, 13.41, 13.46)
Spinocerebellar ataxia 6 - SCA6 (7.9, 7.10, 13.6, 13.41, 13.46)
Cerebellar ataxia, pure - CACNA1A (7.9, 7.10, 13.6, 13.41, 13.46)
75calcium 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)
76Calmodulin 1
CALM1 (14q32.11)



Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT4 (10.118, 10.134)
Long QT syndrome 14 - LQT14 (10.118, 10.134)
77Calmodulin 2
CALM2 (2p21)



Long QT syndrome 15 - LQT15 (10.135)
78Calpain 1
CAPN1 (11q13.1)



Spastic paraplegia 76, autosomal recessive - SPG76 (15.59)
79Calpain 3
CAPN3 (15q15.1-q21.1)



Muscular dystrophy, limb-girdle, type 2A - LGMD2A (1.21)
80Calreticulin 3
CALR3 (19p13.11)



Hypertrophic cardiomyopathy related calreticulin 3 - CMH19 (10.20)
81Calsequestrin 1 (fast-twitch, skeletal muscle)(M)
CASQ1 (1q21)



Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (5.32)
82Calsequestrin 2 (cardiac muscle)
CASQ2 (1p13.3-p11)



ventricular tachycardia, catecholaminergic polymorphi - CPVT (10.116)
83Cardiac myosin binding protein-C
MYBPC3 (11p11.2)



Dilated cardiomyopathy related to MYBPC3 - (3.43, 10.4, 10.101, 10.74)
congenital skeletal myopathy and fatal cardiomyopathy - (3.43, 10.4, 10.101, 10.74)
Cardiomyopathy, familial hypertrophic, 4 - CMH4 (3.43, 10.4, 10.101, 10.74)
Cardimyopathy, dilated, 1A - CMD1A (3.43, 10.4, 10.101, 10.74)
Left ventricular noncompaction 10 - LVNC10 (3.43, 10.4, 10.101, 10.74)
84Carnitine palmitoyltransferase II(M)
CPT2 (1p32)



Myopathy due to CPT II deficiency - CPT2 (9.17)
CPT deficiency, hepatic, type II - CPT2 (9.17)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.17)
85Carnitine-acylcarnitine translocase(M)
SLC25A20 (3p21.31)



Carnitine-acylcarnitine translocase deficiency - CACT (9.19)
86Catenin alpha 3
CTNNA3 (10q21.3)



Arrhythmogenic right ventricular dysplasia, familial, 13 - ARVD13 (10.114)
87Caveolin 3
CAV3 (3p25)



Distal myopathy related to caveolin - (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
Long QT syndrome 9 - LQT9 (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
Hyperckemia, idiopathic - (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
Creatine phosphokinase, elevated serum - CPK (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
cardiomyopathy, familial hypertrophic - CMH (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
Rippling muscle disease - RMD2 (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
Muscular dystrophy, limb-girdle, type IC - LGMD1C (1.15, 4.11, 5.21, 6.3, 6.6, 10.129, 10.16)
88Cellular nucleic acid-binding protein
CNBP (3q21.3)



Proximal myotonic myopathy - PROMM (6.2)
Myotonic dystrophy, type 2 - DM2 (6.2)
89Ceroid-lipofuscinosis, neuronal 3 (=battenin)
CLN3 (16p11.2)



Autophagic vacuolar myopathy - (5.15)
90chaperonin containing TCP1 subunit 5
CCT5 (5p15.2)



Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive - (14.111)
91Charged multivesicular body protein 2B
CHMP2B (3p11.2)



Amyotrophic lateral sclerosis 17 - ALS17 (12.54)
92Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
CLCN1 (7q35)



Myotonia congenita, autosomal dominant, Thomsen disease - THD (6.4, 6.5, 7.1, 7.2)
Myotonia congenita, autosomal recessive, Becker disease - MCR (6.4, 6.5, 7.1, 7.2)
Myotonia recessive - CLC1 (6.4, 6.5, 7.1, 7.2)
93Choline acetyltransferase isoform
CHAT (10q11.2)



Myasthenia gravis, autosomal recessive - MGI (11.12)
Myasthenia gravis, familial infantile - FIMG (11.12)
Congenital myasthenic syndrome with choline acetyltransferase deficiency - CMS-EA (11.12)
Myasthenia gravis, familial infantile, 2 - FIMG2 (11.12)
94Choline kinase beta
CHKB (22q13)



Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC (2.43)
95Cholinergic 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)
96Cholinergic receptor, nicotinic, beta 1 muscle
CHRNB1 (17p13.1)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.2, 11.8)
Myasthenic syndrome, congenital, Ie, included - CMS1E (11.2, 11.8)
97Cholinergic receptor, nicotinic, delta
CHRND (2q33-q34)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.3, 11.6, 11.9)
Myasthenic syndrome, fast-channel congenital - FCCMS (11.3, 11.6, 11.9)
98Cholinergic receptor, nicotinic, epsilon
CHRNE (17p13-p12)



Myasthenic syndrome, slow-channel congenital - SCCMS (11.4, 11.7, 11.10)
Myasthenic syndrome, fast-channel congenital - FCCMS (11.4, 11.7, 11.10)
99Cholinergic receptor, nicotinic, gamma polypeptide
CHRNG (2q33-q34)



Escobar syndrome (multiple pterygium syndrome) - EVMPS (11.30)
100chromosome 10 open reading frame 2(M)
C10orf2 (10q24.31)



Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.50, 16.26)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.50, 16.26)
101chromosome 19 open reading frame 12(M)
C19orf12 (19q12)



Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.38)
Spastic paraplegia 43, autosomal recessive - SPG43 (15.38)
102Chromosome 9 open reading frame 72
C9orf72 (9p21.2)



Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS (12.65)
103Clathrin, heavy polypeptide-like 1
CLTCL1 (22q11.21)



Absence of pain, Congenital - (14.102)
104Cofilin 2 (muscle)
CFL2 (14q12)



Nemaline myopathy - NEM7 (3.7)
105Coiled-coil domain containing 88C
CCDC88C (14q32.11)



Spinocerebellar ataxia 40 - SCA40 (13.35)
106Coiled-coil domain-containing protein 78
CCDC78 (16p13.3)



Centronuclear myopathy 4 - CNM4 (3.27)
107Coiled-coil-helix-coiled-coil-helix domain containing 10(M)
CHCHD10 (22q11.2-q13.2)



Mitochondrial myopathy - (12.33, 12.66, 16.40)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.33, 12.66, 16.40)
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.33, 12.66, 16.40)
108collagen 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)
109collagen type XIII alpha 1 chain
COL13A1 (10q22.1)



Congenital myasthenic syndrome type 19 - CMS19 (11.29)
110Collagen, type XXV, alpha-1
COL25A1 (4q25)



Fibrosis of extraocular muscles, congenital, 5 - CFEOM5 (16.8)
111Connexin 40
GJA5 (1q21.1)



atrial fibrillation, familial, 1 - ATFB1 (10.150, 10.151)
112Contactin-1
CNTN1 (12q11-q12)



congenital lethal myopathy - (3.44)
113Contactin-Associated Protein 1
CNTNAP1 (17q21.2)



Arthrogryposis multiplex congenita with cerebral and cerebellar atrophy - LCCS7 (16.20)
114COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)
COX15 (10q24)



Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.36)
115Crystallin, 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)
116CTD phosphatase subunit 1
CTDP1 (18q23)



congenital cataracts, facial dysmorphism, and neuropathy - CCFDN (14.109)
117CWF19-like Protein 1
CWF19L1 (10q24.31)



Spinocerebellar ataxia, autosomal recessive 17 - SCAR17 (13.67)
118Cysteine 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)
119Cytochrome C oxidase assembly factor 7
COA7 (1p32.3)



Spinocerebellar ataxia with axonal neuropathy type 3 - SCAN3 (13.77)
120Cytochrome c oxidase assembly protein(M)
SCO2 (22q13.33)



Charcot-Marie-Tooth disease, axonal, related to SCO2 - (10.35, 14.84)
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 - CEMCOX1 (10.35, 14.84)
121Cytochrome c oxidase subunit VIa polypeptide 1(M)
COX6A1 (12q24.31)



CMT recessive intermediate D - CMTRID (14.77)
122cytochrome P450, family 2, subfamily U, polypeptide 1
CYP2U1 (4q25)



Spastic paraplegia 56, autosomal recessive - SPG56 (15.51)
123Cytochrome P450, family 7, subfamily B, polypeptide 1
CYP7B1 (8p12-q13)



Spastic paraplegia 5A - SPG5A (15.19)
124Cytotoxic granuleassociated RNA binding protein
TIA1 (2p13)



Welander distal myopathy - WDM (4.7)
125DDB1 and CUL4 associated factor 8
DCAF8 (1q23.2)



Giant axonal neuropathy 2 - GAN2 (14.108)
126DDHD domain containing 1
DDHD1 (14q21)



Spastic paraplegia 20 - SPG28 (15.33)
127DDHD domain containing 2
DDHD2 (8p11.23)



Spastic paraplegia 54, autosomal recessive - SPG54 (15.49)
128dehydrogenase E1 and transketolase domain containing 1
DHTKD1 (10p14)



Charcot-Marie-Tooth neuropathy Type 2Q - CMT2Q (14.57)
129Delta-1-pyrroline-5-carboxylate synthase(M)
ALDH18A1 (10q24.1)



Spastic paraplegia 9 - SPG9 (15.5, 15.21)
Spastic paraplegia 9A, autosomal recessive - SPG9A (15.5, 15.21)
130Delta-sarcoglycan
SGCD (5q33-q34)



Muscular dystrophy, limb-girdle, type 2F - LGMD2F (1.26, 10.47)
Dilated Cardiomyopathy, 1L - CMD1L (1.26, 10.47)
131Deoxyguanosine kinase(M)
DGUOK (2p13.1)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 - PEOB4 (16.32)
132Desmin
DES (2q35)



Desmin-related myopathy - DRM (1.17, 1.38, 5.1, 5.12, 10.44)
Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy - ARVD7 (1.17, 1.38, 5.1, 5.12, 10.44)
Limb girdle muscular dystrophy 1E (autosomal dominant) - LGMD1E (1.17, 1.38, 5.1, 5.12, 10.44)
Dilated cardiomyopathy, 1I - CMD1I (1.17, 1.38, 5.1, 5.12, 10.44)
Limb-Girdle, Muscular dystrophy, type 2R - LGMD2R (1.17, 1.38, 5.1, 5.12, 10.44)
133Desmocollin 2
DSC2 (18q12.1)



Arrhythmogenic right ventricular dysplasia, 11 - ARVD11 (10.112)
134Desmoglein 2
DSG2 (18q12.1)



Arrhythmogenic right ventricular dysplasia, 10 - ARVD10 (10.111, 10.63)
Dilated cardiomyopathy, related to DSG2 - CMD1BB (10.111, 10.63)
135Desmoplakin
DSP (6p24)



Arrhythmogenic right ventricular dysplasia, 8 - ARVD8 (10.109)
136diacylglycerol O-acyltransferase 2
DGAT2 (1q13.3)



Early onset axonal neuropathy with sensory ataxia - (14.65)
137DNA (cytosine-5)-methyltransferase 1
DNMT1 (19p13.2)



Hereditary sensory neuropathy with dementia and hearing loss - (14.98)
Neuropathy, hereditary sensory, type 1E - HSN1E (14.98)
138DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB2 (2q32-q34)



Spinal muscular atrophy, distal related to DNAJB2 - (12.9, 14.72)
Autosomal recessive CMT2 related to DNAJB2 - (12.9, 14.72)
Spinal muscular atrophy, distal, autosomal recessive, 5 - DSMA5 (12.9, 14.72)
139Docking protein 7
DOK7 (4p16.2)



Fetal akinesia deformation sequance with MUSK defect - FADS (11.16, 16.22)
Familial limb-girdle myasthenia related to DOK7 - CMS1B (11.16, 16.22)
140Dolichol kinase
DOLK (9q34.13)



Dilated Cardiomyopathy related to DOLK - CDG1M (10.84)
141Dolichyl-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 (11.19)
142Dolichyl-phosphate mannosyltransferase 1, catalytic subunit
DPM1 (20q13.13)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1E (2.33)
143Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DPM2 (9q34.13)



Muscle dystrophy with congenital disorder of glycosylation - (2.34)
Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se - (2.34)
144Dolichyl-phosphate mannosyltransferase polypeptide 3
DPM3 (1q22)



Muscle dystrophy with congenital disorder of glycosylation, type Io - CDG1O (1.47)
145Double homeobox 4
DUX4 (4q35)



Muscular dystrophy, facioscapulohumeral, type 1A - FSHD1A (1.10)
146Dynactin 1
DCTN1 (2p13)



Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 - (12.25, 12.64)
Neuronopathy, distal hereditary motor, type VIIB - HMN7B (12.25, 12.64)
147Dynamin 2
DNM2 (19p13.2)



centronuclear myopathy, dominant - CNM (2.15, 3.21, 4.14, 14.13)
148Dynein, cytoplasmic 1, heavy chain 1
DYNC1H1 (14q32.31)



Spinal muscular atrophy, lower extremity, autosomal dominant - SMALED (12.30, 14.55)
Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O (12.30, 14.55)
149Dysferlin
DYSF (2p12-14)



Muscular dystrophy, limb-girdle, type 2B - LGMD2B (1.22, 4.1)
Miyoshi myopathy - MM (1.22, 4.1)
150dystonin
DST (6p12.1)



Hereditary sensory and autonomic neuropathy type VI - HSAN6 (14.94)
151Dystrobrevin, alpha
DTNA (18q12)



Left ventricular noncompaction, familial isolated - LVNC (10.92)
Left ventricular noncompaction with congenital heart defects - (10.92)
152Dystroglycan1
DAG1 (3p21)



Muscular dystrophy-dystroglycanopathy (limb-girdle) - MDDGC9 (1.36, 2.35)
Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 - MDDGA9 (1.36, 2.35)
153Dystrophin
DMD (Xp21.2)



Becker muscular distrophy - BMD (1.1, 10.76)
Cardiomyopathy, dilated, X-linked - XLCM (1.1, 10.76)
Cardiomyopathy, Dilated, 3B - CMD3B (1.1, 10.76)
Duchenne muscular dystrophy - DMD (1.1, 10.76)
154EAAT1 (excitatory amino acid transporter type 1)
SLC1A3 (5p13)



episodic ataxia type 6 - EA6 (13.44)
155Early growth response 2 protein
EGR2 (10q21.1)



Dejerine-Sottas neuropathy - DSN (14.4, 14.25, 14.40)
Charcot-Marie-Tooth neuropathy Type 4E - CMT4E (14.4, 14.25, 14.40)
Neuropathy, congenital hypomyelinating - CHN (14.4, 14.25, 14.40)
Charcot-Marie-Tooth disease, type 1D - CMT1D (14.4, 14.25, 14.40)
156ectonucleoside triphosphate diphosphohydrolase 1
ENTPD1 (10q24.1)



Spastic paraplegia 64, autosomal recessive - SPG64 (15.56)
157Electron-transfer-flavoprotein, alpha polypeptide(M)
ETFA (15q23-q25)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.20)
158Electron-transfer-flavoprotein, beta polypeptide(M)
ETFB (19q13.3-q13.4)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.21)
159Electron-transferring-flavoprotein dehydrogenase(M)
ETFDH (4q32-q35)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.22, 9.27)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.22, 9.27)
160ELOVL fatty acid elongase 4
ELOVL4 (6q14.1)



Spinocerebellar ataxia 34 - SCA34 (13.30)
161ELOVL fatty acid elongase 5
ELOVL5 (6p12.1)



Spinocerebellar ataxia 38 - SCA38 (13.34)
162Emerin
EMD (Xq28)



Emery-dreifuss muscular dystrophy 1 - EDMD1 (1.2)
163Enolase 3, beta muscle specific
ENO3 (17pter-p11)



Enolase deficiency - ENO3 (9.16)
Glycogen storage disease XIII - GSD13 (9.16)
164ER lipid raft associated 1 (Erlin-1)
ERLIN1 (10q24.31)



Spastic paraplegia 62 autosomal recessive - SPG62 (15.54)
165ER lipid raft associated 2
ERLIN2 (8p12-p11.21)



Spastic paraplegia 18 - SPG18 (15.25)
166Eukaryotic translation elongation factor 2
EEF2 (19p13.3)



Spinocerebellar ataxia 26 - SCA26 (13.23)
167Exosome component 3
EXOSC3 (9p13.2)



Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b - PCH1B (12.71)
168Exosome component 8
EXOSC8 (13q13.1)



Spinal muscular atrophy and cerebellar hypoplasia - (12.13)
169Eyes absent 4
EYA4 (6q23-24)



Deafness, autosomal dominant nonsyndromic sensorineural 10 - DFNA10 (10.45)
Cardiomyopathy, dilated, 1J - CMD1J (10.45)
170F-box protein 38
FBXO38 (5q32)



Distal Spinal Muscular Atrophy with Calf Predominance - HMN2D (12.18)
171family with sequence similarity 111 member B
FAM111B (11q12.1)



Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis - POIKTMP (16.41)
172family with sequence similarity 134 member B
RETREG1 (5p15.1)



Hereditary sensory neuropathy, type IIB - HSAN2B (14.89)
173Fast Kinase Domains 2
FASTKD2 (2q33.3)



MELAS-like syndrome - (16.44)
174Fatty acid 2-hydroxylase
FA2H (16q21-q23.1)



Spastic paraplegia 35, autosomal recessive - SPG35 (15.36)
Dysmyelinating leukodystrophy - FAHN (15.36)
175Feline leukemia subgroup C receptor 1
FLVCR1 (1q32.3)



Ataxia, posterior column, with retinitis pigmentosa (PCARP) - AXPC1 (14.101)
176Fibroblast growth factor 14
FGF14 (13q34)



Spinocerebellar ataxia 27 - SCA27 (13.24)
177Fibulin 5 (extra-cellular matrix)
FBLN5 (14q32.12)



Charcot-Marie-Tooth neuropathy, with fibulin defect - (14.10)
178Filamin A, alpha (actin binding protein 280)
FLNA (Xq28)



Myxomatous valvular dystrophy, X-ninked - XMVD (10.102)
cardiac valvular dysplasia, x-linked - CVD1 (10.102)
179Filamin C, gamma (actin-binding protein - 280)
FLNC (7q32)



Myopathy, myofibrillar, filamin C-related - MFM5 (4.16, 5.6, 10.27, 10.89)
Myopathy, distal, 4 - MPD4 (4.16, 5.6, 10.27, 10.89)
Cardiomyopathy, familial hypertrophic, 26 - CMH26 (4.16, 5.6, 10.27, 10.89)
180flavin adenine dinucleotide synthetase, homolog(M)
FLAD1 (1q21.3)



Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency - LSMFLAD (9.30)
181Four and a half LIM domain 1
FHL1 (Xq26.3)



Rigid spine syndrome related to FHL1 - RSS (1.3, 5.22, 5.23, 5.24)
Scapuloperoneal myopathy, X-linked dominant - SPM (1.3, 5.22, 5.23, 5.23, 5.24)
Emery-dreifuss muscular dystrophy 6 - EDMD6 (1.3, 5.22, 5.23, 5.23, 5.24)
X-linked myopathy with postural muscle atrophy - XMPMA (1.3, 5.22, 5.23, 5.23, 5.24)
Myopathy, reducing body, X-linked, severe early-onset - (1.3, 5.22, 5.23, 5.23, 5.24)
Myopathy, reducing body, X-linked, childhood-onset - (1.3, 5.22, 5.23, 5.23, 5.24)
Rigid spine syndrome - RSMD1 (1.3, 5.22, 5.23, 5.23, 5.24)
182Frataxin(M)
FXN (9q13-q21.1)



Friedreich ataxia - FRDA (13.47)
Friedreich ataxia with retained reflexes - FARR (13.47)
183Fukutin
FKTN (9q31-q33)



Walker-Warburg syndrome - WWS (1.33, 2.18, 2.19, 10.59)
fukuyama congenital muscular dystrophy - FCMD (1.33, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA4 (1.33, 2.18, 2.19, 10.59)
Limb-Girdle, Muscular dystrophy, type 2M - LGMD2M (1.33, 2.18, 2.19, 10.59)
Cardiomyopathy, dilated, 1X - CMD1X (1.33, 2.18, 2.19, 10.59)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t - MDDGB4 (1.33, 2.18, 2.19, 10.59)
184Fukutin-related protein
FKRP (19q13.32)



Walker-Warburg syndrome - WWS (1.29, 2.22, 2.28, 2.31)
Muscle-eye-brain disease - MEB (1.29, 2.22, 2.28, 2.31)
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda - MDDGB5 (1.29, 2.22, 2.28, 2.31)
Muscular dystrophy, limb-girdle, type 2I - LGMD2I (1.29, 2.22, 2.28, 2.31)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA5 (1.29, 2.22, 2.28, 2.31)
185Fusion (involved in t(12;16) in malignant liposarcoma)
FUS (16q12)



Amyotrophic lateral sclerosis - ALS6 (12.43)
186Gamma sarcoglycan
SGCG (13q12)



Muscular dystrophy, limb-girdle, type 2C - LGMD2C (1.23)
187Ganglioside-induced differentiation-associated protein 1
GDAP1 (8q13-q21)



Charcot-Marie-Tooth disease, type 4A - CMT4A (14.19, 14.52, 14.74)
Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A (14.19, 14.52, 14.74)
Charcot-Marie-Tooth disease, type 2K - CMT2K (14.19, 14.52, 14.74)
Charcot-Marie-Tooth disease, recessive intermediate, A - CMTRIA (14.19, 14.52, 14.74)
188Gap junction protein, beta 1, 32kDa (connexin 32)
GJB1 (Xq13.1)



Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 (14.32, 14.40)
189Gap junction protein, beta 3, 31kDa (=connexin 31)
GJB3 (1p34.3)



Peripheral neuropathy and deafness, autosomal dominant - (14.105)
190gap junction protein, gamma 2, 47kDa
GJC2 (1q42.13)



Spastic paraplegia 44, autosomal recessive - SPG44 (15.39)
191GATA zinc finger domain containing 1
GATAD1 (7q21-q22)



Dilated cardiomyopathy realted to GATAD1 - (10.79)
Cardiomyopathy, dilated, 2B - CMD2B (10.79)
192GDP-mannose pyrophosphorylase B
GMPPB (3p21.31)



Congenital Myasthenic syndrome related to GMPPB - (1.40, 2.30, 2.39, 11.33)
Muscle-eye-brain disease - MDDGA14 (1.40, 2.30, 2.39, 11.33)
Limb-Girdle, Muscular dystrophy, type 2T - MDDGC14 (1.40, 2.30, 2.39, 11.33)
193Gigaxonin
GAN (16q24.1)



Giant axonal neuropathy-1 - GAN1 (14.107)
194GLE1 RNA export mediator homolog (yeast)
GLE1 (9q34.11)



Lethal congenital contracture syndrome 1 - LCCS1 (12.68)
195Glucan (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)
196glucosidase, beta (bile acid) 2
GBA2 (9p13.3)



Spastic paraplegia 46, autosomal recessive - SPG46 (15.41)
197Glutamate receptor metabotropic, 1
GRM1 (6q24.3)



Spinocerebellar ataxia, autosomal recessive 13 - SCAR13 (13.40, 13.63)
Spinocerebellar ataxia 44 - SCA44 (13.40, 13.63)
198glutamate receptor, ionotropic, delta 2
GRID2 (4q22.1)



Spinocerebellar ataxia, autosomal recessive 18 - SCAR18 (13.68)
199Glutamine-fructose-6-phosphate transaminase 1
GFPT1 (2p12-p15)



Familial limb girdle myasthenia with tubular aggregates related to GFPT1 - CMSTA1 (11.18)
200Glycerol-3-phosphate dehydrogenase 1-like
GPD1L (3p22.3)



brugada syndrome 2 - (10.159)
201Glycogen phosphorylase
PYGM (11q12-q13.2)



McArdle disease - PYGM (9.4)
202Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)
GYS1 (19q13.3)



glycogen storage disease type 0 - GSD0b (9.9)
203Glycogenin 1
GYG1 (3q24)



Glycogen storage disease XV - GSD15 (9.8, 9.12)
Polyglucosan Body Myopathy 2 - PGBM2 (9.8, 9.12)
204Glycyl-tRNA synthetase
GARS (7p15)



Neuropathy, distal hereditary motor type V - HMN V (12.19, 14.46)
Spinal muscular atrophy, distal, type V - DSMAV (12.19, 14.46)
Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D (12.19, 14.46)
205Golgi SNAP receptor complex member 2
GOSR2 (17q21.32)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy - (2.41)
206golgin A2
GOLGA2 (9q34.113)



GOLGA2-related congenital muscle dystrophy with brain involvement - (2.46)
207Guanine nucleotidebinding protein, beta-4
GNB4 (3q28-q29)



Charcot-Marie-Tooth neuropathy Type F - CMTD1F (14.17)
208Heat shock 27kDa protein 1
HSPB1 (7q11.23)



Charcot-Marie-Tooth neuropathy Type 2F - CMT2F (12.16, 14.48)
Neuropathy, distal hereditary motor, type IIB - HMN2B (12.16, 12.16, 14.48)
209Heat shock 27kDa protein 3
HSPB3 (5q11.2)



neuronopathy, distal hereditary motor, type IIC - HMN2C (12.17)
210Heat shock 27kDa protein 8
HSPB8 (12q24.23)



Neuropathy, distal hereditary motor, type II - HMN2A (12.15, 14.53)
Charcot-Marie-Tooth neuropathy Type 2L - CMT2L (12.15, 14.53)
211Heat shock 60kDa protein 1 (chaperonin)(M)
HSPD1 (2q33.1)



Spastic paraplegia 13 - SPG13 (15.8)
212Hetergeneous nuclear ribonucleoprotein A2/B1
HNRNPA2B1 (7q15.2)



Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia - IBMPFD2 (5.27)
213heterogeneous nuclear ribonucleoprotein A1
HNRNPA1 (12q13.13)



Isolated inclusion body myopathy - IBMPFD3 (3.37, 12.57)
Amyotrophic lateral sclerosis 20 - ALS20 (3.37, 12.57)
214Heterogeneous nuclear ribonucleoprotein D-like
HNRNPDL (4q21)



Limb-Girdle, Muscular dystrophy, type 1G - LGMD1G (1.19)
215Hexokinase 1(M)
HK1 (10q22.1)



Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.28)
216Hexosaminidase B
HEXB (5q13.3)



Late onset spinal muscular atrophy related to HEXB - (12.76)
217Histidine triad nucleotide binding protein 1
HINT1 (5q23.3)



Axonal neuropathy with myotonia - NMAN (14.73)
218histidyl-tRNA synthetase
HARS (5q31.3)



Charcot-Marie-Tooth neuropathy Type 2W - CMT2W (14.60)
219Homeobox D10
HOXD10 (2q31.1)



Charcot-Marie-Tooth disease, congenital, vertical talus - (14.8)
220HSP-40 homologue, subfamily B, number 6
DNAJB6 (7q36)



Limb girdle muscular dystrophy 1D (autosomal dominant) - LGMD1D (1.16, 4.20)
221Hyperpolarization activated cyclic nucleotide-gated potassium channel 4
HCN4 (15q24.1)



Sick Sinus Syndrome 2, autosomal dominant - SSS2 (10.165, 10.167)
familial sinusal bradycardia - FSBD (10.165, 10.167)
Brugada syndrome 8 - BRGDA8 (10.165, 10.167)
222Hypothetical protein LOC9907 ?
AP5Z1 (7p22.2)



Spastic paraplegia 48, autosomal recessive - SPG48 (15.43)
223IBA57 homolog, iron-sulfur cluster assembly (M)
IBA57 (1q42.13)



Spastic paraplegia 74, autosomal recessive - SPG74 (15.57)
224Immunoglobulin mu binding protein 2
IGHMBP2 (11q13.2-q13.4)



Spinal muscular atrophy with respiratory distress - SMARD1 (12.5, 14.79)
Autosomal recessive CMT axonal type 2S - CMT2S (12.5, 14.79)
225Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IKBKAP (9q31-q33)



Neuropathy, hereditary sensory and autonomic, type III - HSAN3 (14.91, 16.3)
Familial dysautonomia (Riley-Day syndrome) - (14.91, 14.91, 16.3)
226Inositol 1,4,5-triphosphate receptor type 1
ITPR1 (3p26.1)



Spinocerebellar ataxia 15 - SCA15 (13.14)
227Inositol Polyphosphate-5-Phosphatase K
INPP5K (17p13.3)



Muscular dystrophy, congenital, with cataracts and intellectual disability - MDCCAID (2.48)
228Integrin alpha 7 precursor
ITGA7 (12q13)



Congenital muscular dystrophy with integrin defect - (2.14)
Muscular dystrophy, congenital, due to ITGA7 deficiency - (2.14)
229Integrin-linked kinase
ILK (11p15.5-p15.4)



Dilated cardiomyopathy related to integrin-linked kinase - ILK (10.76)
230Interferon-related developmental regulator 1
IFRD1 (7q31.1)



Spinocerebellar ataxia 18 - SCA18 (13.16)
231Inverted formin 2
INF2 (14q32-33)



Charcot-Marie-Tooth neuropathy with glomerulopathy - CMTDIE (14.16)
232Iron-sulfur cluster scaffold homolog (E. coli)(M)
ISCU (12q24.1)



myopathy with deficiency of succinate dehydrogenase and aconitase - (5.28)
myopathy with lactic acidosis, hereditary - HML (5.28)
myopathy with exercise intolerance, swedish type - (5.28)
233Isoprenoid synthase domain containing
ISPD (7p21.2)



Walker-Warburg syndrome - WWS (1.41, 2.24)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA7 (1.41, 2.24)
234Junction plakoglobin
JUP (17q21)



naxos disease - (10.113, 10.120)
arrhythmogenic right ventricular dysplasia, familial, 12 - ARVD12 (10.113, 10.120)
235Junctophilin-2
JPH2 (20q13.12)



Hypertrophic cardiomyopathy related to junctophilin - (10.18)
Cardiomyopathy, familial hypertrophic, 17 - CMH17 (10.18)
236Kelch repeat and BTB (POZ) domain containing 13
KBTBD13 (15q22.31)



Nemaline myopathy 6 - NEM6 (3.6)
237Kelch-like family member 40
KLHL40 (2p22.1)



Severe autosomal-recessive nemaline myopathy - NEM8 (3.8)
238Kelch-like family member 41
KLHL41 (2q31.1)



Nemaline myopathy - NEM9 (3.9)
239Kelch-like homologue 9
KLHL9 (9p21.2-p22.3)



Early onset distal myopathy with KLHL9 mutations - (4.15)
240KIAA1985 protein
SH3TC2 (5q32)



Charcot-Marie-Tooth neuropathy Type 4F - CMT4C (14.23)
241Kinesin family member 1A
KIF1A (2q37.3)



Spastic paraplegia 30 - SPG30 (14.100, 15.34)
Neuropathy, hereditary sensory, type IIC - HSN2C (14.100, 15.34)
242Kinesin family member 1B(M)
KIF1B (1p36.2)



Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.42)
243kinesin family member 1C
KIF1C (17p13.2)



ataxia, spastic, 2, autosomal recessive - SPAX2 (15.70)
244Kinesin family member 21A
KIF21A (12q12)



Fibrosis of extraocular muscles, congenital, 1 - CFEOM1 (16.5)
245Kinesin family member 5A
KIF5A (12q13.13)



CMT2 related to KIF5A - (14.64, 15.6)
Spastic paraplegia 10 - SPG10 (14.64, 15.6)
246Kir2.6 (inwardly rectifying potassium channel 2.6)
KCNJ18 (17p11.2)



Thyrotoxic periodic paralysis, susceptibility to, 2 - TTPP2 (7.13)
247Kyphoscoliosis peptidase
KY (3q22.2)



Myopathy microfibrillar type 7 - MFM7 (5.8)
248L1 cell adhesion molecule
L1CAM (Xq28)



Hydrocephalus with Hirschspung disease and cleft palate - HSCR (15.65)
CRASH syndrome - L1CAM (15.65)
MASA syndrome - L1CAM (15.65)
CRASH syndrome - HSAS (15.65)
249Lactate dehydrogenase A
LDHA (11p15.4)



Exertional myoglobinuria due to deficiency of LDH-A - LDHA (9.15)
Glycogen storage disease XI - GSD11 (9.15)
250Lamin A/C
LMNA (1q22)



Congenital muscular dystrophy due to LMNA defect (L-CMD) - (1.4, 1.5, 1.14, 2.17, 10.37, 14.70)
Cardiomyopathy, dilated, 1A - CMD1A (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Lipodystrophy, familial partial, type 2 - FPLD2 (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Muscular dystrophy, limb-girdle, type 1B - LGMD1B (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Hutchinson-Gilford progeria syndrome - HGPS (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Emery-Dreifuss Autosomal recessive - EDMD3 (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Mandibuloacral dysplasia with type a lipodystrophy - MADA (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
restrictive dermopathy - (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 (1.4, 1.5, 1.14, 2.17, 2.17, 10.37, 14.70)
251Lamina-associated polypeptide 2
TMPO (12q22)



Cardiomyopathy, dilated, 1T - CMT1T (10.55)
252Laminin alpha 2 chain of merosin
LAMA2 (6q22-q23)



Muscular dystrophy, congenital merosin-deficient - MDC1A (2.1)
253Laminin alpha 4
LAMA4 (6q21)



Dilated cardiomyopathy related to laminin-alpha4 - LAMA4 (10.71)
254Laminin, Alpha 5
LAMA5 (20q13.33)



Presynaptic congenital myasthenic syndrome - (11.35)
255Laminin, beta 2 (laminin S)
LAMB2 (3p21)



Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien - (11.19)
256LDL receptor related protein 4
LRP4 (11p11.2)



Congenital myasthenic syndrome - CMS17 (11.23)
257Leiomodin 3 (fetal)
LMOD3 (3p14.1)



Nemaline myopathy - NEM10 (3.10)
258leucine rich repeat and sterile alpha motif containing 1
LRSAM1 (9q33.3)



Charcot-Marie-Tooth neuropathy Type 2P - CMT2P (14.56)
259Leucine Zipper-And Sterile Alpha Motif-Containing Kinase
-
260Like-glycosyltransferase
LARGE (22q12.3-q13.1)



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB6 (2.32)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA6 (2.32)
261LIM and senescent cell antigen-like domains 2
LIMS2 (2q14.3)



Limb-Girdle, Muscular dystrophy, type 2W - LGMD2W (1.43)
262LIM domain binding 3
LDB3 (10q22)



cardiomyopathy, dilated 1C - CMD1C (4.12, 5.5, 10.25, 10.39, 10.94)
Hypertrophic cardiomyopathy related to ZASP - CMH24 (4.12, 5.5, 10.25, 10.39, 10.94)
Left ventricular noncompaction 3 - LVNC3 (4.12, 5.5, 10.25, 10.39, 10.94)
myofibrillar myopathy ZASP-related - MFM4 (4.12, 5.5, 10.25, 10.39, 10.94)
263Lipin 1 (phosphatidic acid phosphatase 1)
LPIN1 (2p25.1)



Reccurrent myoglobinuria, autosomal recessive - (9.28)
264Lipopolysaccharide-induced TNF factor
LITAF (16p13.3-p12)



Hereditary motor and sensory, type 1C - CMT1C (14.3)
265Lysosomal-associated membrane protein 2 precursor
LAMP2 (Xq24)



Danon disease - (5.13)
Glycogen storage disease IIb - GSD2B (5.13)
266Lysyl-tRNA synthetase
KARS (16q23.1)



Axonal neuropathy recessive - CMTRIB (14.75)
267Maspardin
SPG21 (15q21-q22)



Spastic paraplegia 20 - SPG21 (15.27)
268Matrin 3
MATR3 (5q31)



Vocal cord and pharyngeal distal myopathy - VCPDM (4.5, 12.58)
Familial amyotrophic lateral sclerosis - ALS21 (4.5, 12.58)
269Mediator complex subunit 25
MED25 (19q13)



Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 (14.71)
270membrane metallo-endopeptidase
MME (3q25.2)



Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.80)
Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.80)
271methionyl-tRNA synthetase
MARS (12q13.3)



Charcot-Marie-Tooth 2 - (14.58)
272methionyl-tRNA synthetase 2, mitochondrial(M)
MARS2 (2q33-34)



autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.71)
273Mindbomb homolog 1 (drosophila)
MIB1 (18q11.2)



Left ventricular noncompaction 7 - LVNC7 (10.98)
274misato homolog 1 (Drosophila)
MSTO1 (1q22)



Myopathy and cerebellar ataxia - (13.86)
275Mitochondrial carrier; adenine nucleotide translocator(M)
SLC25A4 (4q35)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.25)
276Mitochondrial DNA polymerase, accessory subunit(M)
POLG2 (17q24.1)



progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.27)
277mitochondrial poly(A) polymerase(M)
MTPAP (10p12.1)



Spastic ataxia 4 autosomal recessive - SPAX4 (15.72)
278Mitochondrial ribosomal protein L3(M)
MRPL3 (3q21-q23)



Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.32)
279Mitochondrial ribosomal protein L44(M)
MRPL44 (2q36.1)



Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.34)
280Mitochondrial tRNA translation optimization 1(M)
MTO1 (6q13)



Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.33)
281Mitofusin 2(M)
MFN2 (1p36.22)



Hereditary motor and sensory neuropathy 2A - CMT2A (14.43, 14.69)
Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.43, 14.69)
282Mitogen-activated protein kinase kinase 20
MAP3K20 (2q31.1)



Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.19)
283MORC family CW-type zinc finger 2
MORC2 (2q12.2)



Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.62)
284MRE11 meiotic recombination 11 homolog A
MRE11A (11q21)



ataxia telangiectasia-like disorder - ATLD (13.81)
285Multiple EGF-like-domains 10
MEGF10 (5q23.2)



Recessive congenital myopathy with minicores - (3.32, 3.33)
Early onset myopathy, areflexia, respiratory distress and dysphagia - EMARDD (3.32, 3.33)
286Muscle-related coiled-coil protein
MURC (9q31.1)



Dilated cardiomyopathy related to MURC - (10.83)
287muscle, skeletal, receptor tyrosine kinase
MUSK (9q31.3-q32)



Fetal akinesia deformation sequance with MUSK defect - FADS (11.15, 16.21)
Congenital myasthenic syndrome related to MuSK - CMS1B (11.15, 16.21)
288myelin associated glycoprotein
MAG (19q13.12)



Spastic paraplegia 75, autosomal recessive - SPG75 (15.58)
289Myelin protein zero
MPZ (1q22)



Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
Dejerine-Sottas syndrome - DSSA (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
Neuropathy, congenital hypomyelinating - CMT4E (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.15, 14.26, 14.39, 14.50, 14.51)
290Myomaker
MYMK (9q34.2)



Myopathy, Congenital nonprogressive, with Moebius sequence and Robin sequence - CFZS (3.50)
291Myopalladin
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)
292Myosin heavy chain 6
MYH6 (14q12)



Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.169, 10.66)
Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.169, 10.66)
Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.169, 10.66)
Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.169, 10.66)
293Myosin heavy chain, 8, skeletal muscle, perinatal
MYH8 (17p13)



Myosin, heavy chain, perinatal - MYH8 (16.18)
294myosin IXA
MYO9A (15q23)



Congenital Myasthenia - (11.32)
295Myosin light chain 2
MYL2 (12q23-q24.3)



Cardiomyopathy, hypertrophic, mid-left ventricular chamber type - MYL2 (10.9)
Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
296Myosin light chain 3
MYL3 (3p21.3-p21.2)



Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
297Myosin light chain kinase 2
MYLK2 (20q13.31)



cardiomyopathy, familial hypertrophic - CMH (10.15)
298Myosin XVIIIB
MYO18B (22q12.1)



Nemaline Myopathy with Cardiomyopathy - (3.12)
299Myosin-binding proteinC, slow type
MYBPC1 (12q23.2)



Arthrogryposis, distal, type 1B - DA1B (16.10)
300Myosin, heavy polypeptide 2, skeletal muscle
MYH2 (17p13.1)



Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles - IBM3 (3.36)
Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) - MYPOP (3.36)
301Myosin, heavy polypeptide 7, cardiac muscle, beta
MYH7 (14q12)



Myopathy, distal 1 - MPD1 (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
myopathy, congenital, with fiber-type disproportion - CFTD (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
Myosin storage myopathy - (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
Cardiomyopathy, dilated, 1S - CMD1S (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
Left ventricular noncompaction 5 - LVNC5 (3.18, 3.34, 3.35, 4.4, 10.1, 10.54, 10.96)
302Myosin, Light Chain 4, Alkali, Atrial, Embryonic
MYL4 (17q21.32)



ATFB18 - Atrial fibrillation (10.157)
303Myosine, 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)
304Myostatin
MSTN (2q32.2)



Muscle hypertrophy - MSLHP (5.19)
305Myotilin
MYOT (5q31)



Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (1.13, 4.9, 5.3, 5.4)
Spheroid body myopathy - (1.13, 4.9, 5.3, 5.4)
Myofibrillar myopathy, myotilin related - MFM3 (1.13, 4.9, 5.3, 5.4)
306Myotonic dystrophy protein kinase
DMPK (19q13.3)



Steinert disease - DM1 (6.1)
Myotonic dystrophy 1 - DM1 (6.1)
Dystrophia myotonica - DM (6.1)
307Myotubularin
MTM1 (Xq28)



Myotubular myopathy, X-linked - MTM1 (3.20)
308Myotubularin-related protein 2
MTMR2 (11q22)



Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.20)
309Myozenin 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)
310N-acetyl-alpha-glucosaminidase
NAGLU (17q21.2)



Charcot-Marie-Tooth neuropathy Type 2V - CMT2V (14.59)
311N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASAH1 (8p22)



Spinal muscular atrophy with progressive myoclonic epilepsy - SMAPME (12.12)
312N-myc downstream regulated gene 1
NDRG1 (8q24.3)



Charcot-Marie-Tooth disease, type 4D - CMT4D (14.24)
Neuropathy, hereditary motor and sensory, lom type - HMSNL (14.24, 14.24)
Hereditary motor and sensory neuropathy – Lom (with deafness) - HMNSL (14.24, 14.24)
313NADH-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)
314Natriuretic peptide precursor A
NPPA (1p36)



atrial fibrillation, familial, 6 - ATFB6 (10.146)
315Nebulin
NEB (2q22)



Nemaline myopathy 2, autosomal recessive - NEM2 (3.2, 4.10)
316Nerve growth factor (beta polypeptide)
NGF (1p13.1)



neuropathy, hereditary sensory and autonomic type v - HSAN5 (14.93)
317Neurofilament, heavy polypeptide
NEFH (22q12.2)



Susceptibility to amyotrophic lateral sclerosis related to NEFH - ALSDC (12.62, 14.66)
Charcot-Marie-Tooth disease, axonal, type 2CC - CMT2CC (12.62, 14.66)
318Neurofilament, light polypeptide 68kDa
NEFL (8p21)



Charcot-Marie-Tooth disease, type 2E - CMT2E (14.7, 14.18, 14.47)
Charcot-Marie-Tooth disease, type 1F - CMT1F (14.7, 14.18, 14.47)
Charcot-Marie-Tooth disease, dominant intermediate G - CMTD1G (14.7, 14.18, 14.47)
319neurotrophic receptor tyrosine kinase 1
NTRK1 (1biq23.1)



Hereditary sensory and autonomic neuropathy type IV - HSAN4 (14.92)
320Never in motosis gene A-related kinase 1
NEK1 (4q33)



Amyotrophic lateral sclerosis, susceptibility to, 24 - ALS24 (12.61)
321Nexilin(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)
322Non-imprinted in Prader-Willi/Angelman syndrome 1
NIPA1 (15q11.2)



Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type - SPG6 (15.3)
323NOP56 ribonucleoprotein
NOP56 (20p13)



Spinocerebellar ataxia 31 - SCA36 (13.32)
324Nucleoporin 155 kDa
NUP155 (5p13.2)



Atrial fibrillation, 15 - ATFB15 (10.154)
325O-linked mannose beta1,2-N-acetylglucosaminyltransferase
POMGNT1 (1p34.1)



Walker-Warburg syndrome - WWS (1.35, 2.23, 2.27)
Muscle-eye-brain disease - MEB (1.35, 2.23, 2.27)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA3 (1.35, 2.23, 2.27)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type - MDDGB3 (1.35, 2.23, 2.27)
Limb-girdle, muscular dystrophy, type 2o - LGMD2O (1.35, 2.23, 2.27)
326optic atrophy 1(M)
OPA1 (3q28-q29)



Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de - (16.37)
327Optineurin
OPTN (10p14)



Amyotrophic lateral sclerosis 12 - ALS12 (12.49)
328ORAI calcium release-activated calcium modulator 1
ORAI1 (12q24.31)



Tubular aggregate myopathy 2 - TAM2 (5.31)
329Paired-like aristaless homeobox protein 2A
PHOX2A (11q13.2)



Fibrosis of extraocular muscles, congenital, 2 - CFEOM2 (16.6)
330Paraplegin(M)
SPG7 (16q24.3)



Spastic paraplegia 7 - SPG7 (15.20)
331Patatin-like phospholipase domain containing 6
PNPLA6 (19p13.3-p13.2)



Spastic paraplegia 39, autosomal recessive - SPG39 (15.37)
332Patatin-like phospholipase domain containing 8(M)
PNPLA8 (7q31.1)



Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.29)
333Peptidyl-tRNA Hydrolase 2
PTRH2 (17q23.1)



Infantile-onset multisystem disease with progressive muscle weakness - IMNEPD (16.45)
334Periaxin
PRX (19q13)



Charcot-Marie-Tooth disease, type 4F - CMT4F (14.27, 14.41)
Dejerine-Sottas neuropathy, autosomal recessive - CMT4F (14.27, 14.41)
335Peripheral myelin protein 22
PMP22 (17p12-p11.2)



Charcot-Marie-Tooth disease, type 1A - CMT1A (14.1, 14.5, 14.6, 14.38)
Charcot-Marie-Tooth disease, type 1E - CMT1E (14.1, 14.5, 14.6, 14.38)
Dejerine-Sottas Syndrome - DSSB (14.1, 14.5, 14.6, 14.38)
Neuropathy, recurrent, with pressure palsies - HNPP (14.1, 14.5, 14.6, 14.38)
336peripheral myelin protein-2
PMP2 (8q21.13)



CMT1 related to PMP2 - CMTDI (14.11, 14.12)
charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA (14.11, 14.12)
337Peripherin
PRPH (12q13.12)



Susceptibility to amyotrophic lateral sclerosis related to peripherin - (12.63)
338Perlecan
HSPG2 (1p36.1-p34)



Dyssegmental dysplasia, Silverman-Handmaker type - DDSH (6.7)
Schwartz-Jampel syndrome, type 1 - SJS1 (6.7)
339Peroxisomal biogenesis factor 7
PEX7 (6q21-q22)



Refsum disease, adult - RD (13.84)
340Phenylalanine--tRNA ligase(M)
FARS2 (6p25.1)



Spastic paraplegia 77, autosomal recessive - SPG77 (15.60)
341Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma
PIP5K1C (19p13.3)



Lethal congenital contractural syndrome 3 - LCCS3 (12.70)
342Phosphofructokinase, muscle
PFKM (12q13.3)



Glycogen storage disease VII - PFKM (9.5)
343Phosphoglucomutase 1
PGM1 (1p31)



Glycogen storage disease XIV - GSD14 (9.7)
344Phosphoglycerate kinase 1
PGK1 (Xq13)



posphoglycerate kinase deficiency - (9.13)
345Phosphoglycerate mutase 2 (muscle)
PGAM2 (7p13-p12)



Myopathy due to phosphoglycerate mutase deficiency - PGAMM (9.14)
Glycogen storage disease X - GSD10 (9.14)
346Phospholamban
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)
347Phosphoribosyl pyrophosphate synthetase 1
PRPS1 (Xq21.32-q24)



charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 (14.36)
348Phosphorylase b kinase, alpha submit
PHKA1 (Xq13)



glycogen storage disease, type IXD - GSD9D (9.6)
349Phytanoyl-CoA 2-hydroxylase
PHYH (10q13)



Refsum disease, adult - RD (13.83)
350Piezo-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)
351Plakophilin 2
PKP2 (12p11)



Arrhythmogenic right ventricular dysplasia, 9 - ARDV9 (10.110)
352Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLEKHG5 (1p36)



spinal muscular atrophy, distal, autosomal recessive, 4 - DSMA4 (12.8, 14.76)
Axonal neuropathy intermediate recessive C - CMTRIC (12.8, 14.76)
353plectin
PLEC (8q24.3)



Myasthenic syndrome, with plectin defect - (1.37, 1.49, 5.18, 11.31)
Limb girdle muscular dystrophy with ophthalmoplegia - (1.37, 1.49, 5.18, 11.31)
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - MDEBS (1.37, 1.49, 5.18, 11.31)
Limb-girdle, muscular dystrophy, type 2q - LGMD2Q (1.37, 1.49, 5.18, 11.31)
354Poly(A) binding protein, nuclear 1
PABPN1 (14q11.2-q13)



Oculopharyngeal muscular dystorphy - OPMD (5.16)
355Polymerase (DNA directed), gamma(M)
POLG (15q25)



Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.79, 16.24, 16.29, 16.37)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 - PEOB1 (13.79, 16.24, 16.29, 16.37)
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.79, 16.24, 16.29, 16.37)
spinocerebellar ataxia with epilepsy, included - SCAE (13.79, 16.24, 16.29, 16.37)
356Polymerase I and transcript release factor(M)
PTRF (17q21-q23)



lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
357polynucleotide kinase 3’-phosphatase
PNKP (19q13.33)



Early-onset axonal Charcot-Marie-Tooth with ataxia - (14.82)
358Potassium chloride cotransporter KCC3
SLC12A6 (15q13-q15)



Agenesis of the corpus callosum with peripheral neuropathy - ACCPN (14.104)
Charlevoix disease - SLC12A6 (14.104)
Andermann syndrome - SLC12A6 (14.104)
359Potassium inwardly-rectifying channel J2
KCNJ2 (17q23)



Long QT syndrome-7 - LQT7 (7.14, 10.127, 10.138, 10.149)
Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom - ATS (7.14, 10.127, 10.138, 10.149)
Atrial fibrillation, 9 - ATFB9 (7.14, 10.127, 10.138, 10.149)
360Potassium inwardly-rectifying channel, subfamily J, member 5
KCNJ5 (11 q24.3)



Long QT syndrome 13 - LQT13 (10.133)
361Potassium voltage-gated channel, Isk-related family, member 1
KCNE1 (21q22.1-q22.2)



Long QT syndrome-5 - LQT5 (7.19, 10.125)
Jervell and Lange-Nielsen syndrome - JLNS1 (7.19, 10.125)
362Potassium voltage-gated channel, Isk-related family, member 2
KCNE2 (21q22.12)



Long QT syndrome-6 - LQT6 (7.18, 10.126, 10.140, 10.144)
Atrial fibrillation, 4 - ATFB4 (7.18, 10.126, 10.140, 10.144)
363Potassium voltage-gated channel, Isk-related family, member 3
KCNE3 (11q13-q14)



Hypokalaemic periodic paralysis, type 3 - hypoKPP3 (7.11, 10.163)
Brugada syndrome 6 - BRGDA6 (7.11, 10.163)
364Potassium voltage-gated channel, KQT-like subfamily, member 1
KCNQ1 (11p15.5)



Long QT syndrome-1 - LQT1 (7.16, 7.17, 10.121, 10.137, 10.139, 10.143)
Romano-Ward syndrome - RWS (7.16, 7.17, 10.121, 10.137, 10.139, 10.143)
jervell and lange-nielsen syndrome - JLNS1 (7.16, 7.17, 10.121, 10.137, 10.139, 10.143)
Atrial fibrillation, 3 - ATFB3 (7.16, 7.17, 10.121, 10.137, 10.139, 10.143)
365Potassium voltage-gated channel, shaker-related subfamily, member 1
KCNA1 (12p13)



Episodic ataxia with myokymia - EA1 (7.12)
366Potassium voltage-gated channel, shaker-related subfamily, member 5
KCNA5 (12p13)



atrial fibrillation, familial - ATFB7 (10.147)
367Potassium voltage-gated channel, Shal-related subfamily, member 3
KCND3 (1p13.2)



Spinocerebellar ataxia 19 - SCA19 (10.166, 13.17)
Brugada syndrome 9 - BRGDA9 (10.166, 13.17)
368Potassium voltage-gated channel, Shaw-related subfamily, member 3
KCNC3 (19q13.33)



Spinocerebellar ataxia 13 - SCA13 (13.12)
369PR 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)
370PR/SET domain 12 (positive regulatory domain zinc finger protein 12)
PRDM12 (9q34.12)



Hereditary sensory and autonomic neuropathy type VIII - HSAN8 (14.96)
371Presenilin 1
PSEN1 (14q24.2)



Cardiomyopathy, dilated, 1U - CMD1U (10.56)
372Presenilin 2
PSEN2 (1q42.13)



Cardiomyopathy, dilated, 1W - CMD1U (10.57)
373prodynorphin
PDYN (20p13-p12-3)



Spinocerebellar ataxia 23 - SCA23 (13.21)
374Profilin 1
PFN1 (17p13.2)



Amyotrophic lateral sclerosis 18 - ALS18 (12.55)
375Prolyl endopeptidase-like
PREPL (2p21)



Myasthenic syndrome, congenital, 22 - CMS22 (11.28)
376Protein kinase C, gamma
PRKCG (19q13.42)



Spinocerebellar ataxia 14 - SCA14 (13.13)
377Protein 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)
378Protein O-Glucosyltransferase 1
POGLUT1 (3q13.33)



Limb-Girdle, Muscular dystrophy, type 2Z - LGMD2Z (1.46)
379protein O-linked mannose N-acetylglucosaminyltransferase 2
POMGNT2 (3p22.1)



Walker-Warburg syndrome - WWS (2.25)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, - MDDGA8 (2.25)
380Protein phosphatase 2 regulatory subunit B, beta isoform
PPP2R2B (5q32)



Spinocerebellar ataxia 12 - SCA12 (13.11)
381Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase
HACD1 (10p12.33)



Congenital myopathy related to PTPLA - (3.46)
382Protein-O-mannose kinase
POMK (8p11.21)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 - MDDGA12 (2.38)
383Protein-O-mannosyltransferase 1
POMT1 (9q34.1)



Walker-Warburg syndrome - WWS (1.31, 2.20)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA1 (1.31, 2.20)
Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K (1.31, 2.20)
384Protein-O-mannosyltransferase 2
POMT2 (14q24.3)



Walker-Warburg syndrome - WWS (1.34, 2.21, 2.29)
Muscle-eye-brain disease - MEB (1.34, 2.21, 2.29)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), - MDDGA2 (1.34, 2.21, 2.29)
Limb-girdle, muscular dystrophy, type 2n - LGMD2N (1.34, 2.21, 2.29)
385Proteolipid protein 1
PLP1 (Xq22)



Spastic paraplegia 2 - SPG2 (15.66)
386Protrudin
ZFYVE27 (10q24.2)



Spastic paraplegia 33 - SPG33 (15.13)
387Prune exopolyphosphatase 1
PRUNE1 (1q21.3)



Spinal muscular atrophy, related to PRUNE1 - (12.77)
388Pseudouridylate synthase 1(M)
PUS1 (12q24.33)



Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.38)
389Pyridine nucleotidedisulphide oxidoreductase domain 1
PYROXD1 (12p12.1)



Early-onset myofibrillar myopathy with PYRODX1 defect - (5.9)
390Pyruvate dehydrogenase kinase, isoenzyme 3(M)
PDK3 (Xp22.11)



Charcot-Marie-Tooth neuropathy X-linked 6 - (14.37)
391RAB7, member RAS oncogene family
RAB7A (3q21)



Charcot-Marie-Tooth neuropathy Type 2B - CMT2B (14.44)
392rabphilin 3A
RPH3A (12q23.3)



Congenital myasthenic syndrome related to RPH3A - (11.38)
393RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)
RBCK1 (20p13)



Polyglucosan storage myopathy - (9.11)
394Rapsyn
RAPSN (11p11.2-p11.1)



Fetal akinesia deformation sequance with MUSK defect - FADS (11.17, 16.23)
Myasthenic syndrome, congenital - CMS1D (11.17, 16.23)
395Receptor accessory protein 1(M)
REEP1 (2p11.2)



Spastic paraplegia 31 - SPG31 (12.21, 15.12)
Distal spinal muscular atrophy, type VB - DSMAVB (12.21, 15.12)
396Reticulon 2
RTN2 (19q13)



Spastic paraplegia 12 - SPG12 (15.7)
397Rho guanine nucleotide exchange factor 10
ARHGEF10 (8p23)



Slowed nerve conduction velocity, autosomal dominant - NCV (14.9)
398Ribonuclease H1(M)
RNASEH1 (2p25.3)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 - PEOB2 (16.30)
399Ribonucleotide reductase M2 B (TP53 inducible)(M)
RRM2B (8q23.1)



Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.28, 16.35)
400Ring finger protein 216
RNF216 (7p22.1)



Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) - GDHS (13.85)
401RNA binding motif protein 20
RBM20 (10q25.3)



Cardiomyopathy, dilated, 1DD - CMD1DD (10.65)
402RNA binding motif protein 7
RBM7 (11q23.2)



Spinal motor neuropathy - (12.29)
403RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein
RUBCN (3q29)



Spinocerebellar ataxia, autosomal recessive 15 - SCAR15 (13.65)
404Ryanodine receptor 1 (skeletal)
RYR1 (19q13.1)



myopathy, congenital, with fiber-type disproportion - CFTD (3.17, 3.24, 3.28, 3.29, 3.30, 3.41, 5.29, 8.1)
Central core disease - CCD (3.17, 3.24, 3.28, 3.29, 3.30, 3.41, 5.29, 8.1)
Malignant hyperthermia susceptibility 1 - MHS1 (3.17, 3.24, 3.28, 3.29, 3.30, 3.41, 5.29, 8.1)
centronuclear myopathy, recessive - (3.17, 3.24, 3.28, 3.29, 3.30, 3.41, 5.29, 8.1)
minicore myopathy with external ophthalmoplegia - (3.17, 3.24, 3.28, 3.29, 3.30, 3.41, 5.29, 8.1)
405Ryanodine receptor 2
RYR2 (1q42.1-q43)



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)
406Ryanodine receptor 3
RYR3 (15q13-q14)



Myopathy with nemaline bodies - (3.13)
407Sac domain-containing inositol phosphatase 3
FIG4 (6q21)



charcot-marie-tooth disease, type 4j - CMT4J (12.48, 14.30)
Amyotrophic lateral sclerosis 11 - ALS11 (12.48, 14.30)
408Sacsin
SACS (13q12)



Autosomal recessive spastic ataxia of Charlevoix-Saguenay - ARSACS (13.82, 15.74)
Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type - SPAX6 (13.82, 15.74)
409Sarcoglycan, epsilon
SGCE (7q21-q22)



Myoclonus-dystonia syndrome - DYT11 (16.2)
410SCY1 like pseudokinase 1
SCYL1 (11q13.1)



Spinocerebellar ataxia, autosomal recessive 21 - SCAR21 (13.70)
411Seipin
BSCL2 (11q12-q13.5)



Spastic paraplegia 17 - SPG17 (12.20, 15.9)
Neuronopathy, distal hereditary motor, type V - HMN5 (12.20, 15.9)
412Selenoprotein N1
SELENON (1p36.13)



Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.15, 3.31, 5.10)
myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.15, 3.31, 5.10)
Multiminicore disease, classical form - (2.13, 3.15, 3.31, 5.10)
Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.15, 3.31, 5.10)
Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.15, 3.31, 5.10)
Rigid spine syndrome - RSMD1 (2.13, 3.15, 3.31, 5.10)
413Senataxin
SETX (9q34.13)



Neuropathy, distal hereditary motor, with pyramidal features - ALS4 (12.41, 13.52)
ATAXIA-oculomotor apraxia 2 - AOA2 (12.41, 13.52)
Spinocerebellar ataxia, autosomal recessive 1 - SCAR1 (12.41, 13.52)
414Septin 9
SEPT9 (17q25)



Familial brachial plexus neuropathy - HNA (14.106)
415Sequestosome 1
SQSTM1 (5q35.3)



Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS3 (4.19, 12.67)
Myopathy, distal, with rimmed vacuoles - DMRV (4.19, 12.67)
416Serine palmitoyltransferase long chain base subunit 2
SPTLC2 (14q24.3)



Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C (14.87)
417Serine palmitoyltransferase subunit 1
SPTLC1 (9q22.2)



Neuropathy, hereditary sensory, type 1 - HSN1 (14.85)
Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 (14.85)
418SET binding factor 1
SBF1 (22q13.33)



Charcot-Marie-Tooth neuropathy Type 4B3 - CMT4B3 (14.22)
419SET binding factor 2
SBF2 (11p15.4)



charcot-marie-tooth disease, type 4b2 - CMT4B2 (14.21)
420SH3 and cysteine rich domain 3
STAC3 (12q13.3)



Myopathy, congenital, Bailey-Bloh - MYPBB (3.51)
421Sigma non-opioid intracellular receptor 1
SIGMAR1 (9p13.3)



spinal muscular atrophy, distal, autosomal recessive, 2 - DSMA2 (12.6, 12.53)
Amyotrophic lateral sclerosis 16, juvenile - ALS16 (12.6, 12.53)
422SIL1 homolog, endoplasmic reticulum chaperone
SIL1 (5q31)



Marinesco-Sjogren syndrome - MSS (13.78)
423Slow troponin C
TNNC1 (3p21.3-p14.3)



Cardiomyopathy, dilated, 1Z - CMD1Z (10.12, 10.61)
Familial hypertrophic cardiomyopathy, 13 - CMH13 (10.12, 10.61)
424Slow troponin T
TNNT1 (19q13.4)



Nemaline myopathy 5 - NEM5 (3.5)
425Sodium channel, voltage-gated, type I, beta subunit
SCN1B (19q13.12)



Brugada syndrome 5 - BRGDA5 (10.152, 10.162)
Atrial fibrillation, 13 - ATFB13 (10.152, 10.162)
426Sodium channel, voltage-gated, type II, beta subunit
SCN2B (11q23.3)



Atrial fibrillation, 14 - ATFB14 (10.153)
427Sodium channel, voltage-gated, type III, beta subunit
SCN3B (11 q24.1)



Brugada syndrome 7 - BRGDA7 (10.155, 10.164)
Atrial fibrillation, 16 - ATFB16 (10.155, 10.164)
428Sodium channel, voltage-gated, type IV, alpha
SCN4A (17q23-q25.3)



Sodium-channel myasthenia - (7.3, 7.4, 7.5, 7.6, 11.22)
Paramyotonia congenita of Von Eulenburg - PMC (7.3, 7.4, 7.5, 7.6, 11.22)
Hyperkalemic periodic paralysis - HYPP (7.3, 7.4, 7.5, 7.6, 11.22)
Potassium-aggravated myotonia - (7.3, 7.4, 7.5, 7.6, 11.22)
Myotonia potassium-aggravatd - (7.3, 7.4, 7.5, 7.6, 11.22)
Hyperkalemic periodic paralysis, type 2 - HOKPP2 (7.3, 7.4, 7.5, 7.6, 11.22)
Myasthenic syndrome, acetazolamide-responsive - (7.3, 7.4, 7.5, 7.6, 11.22)
429Sodium channel, voltage-gated, type IV, beta subunit
SCN4B (11q23.3)



Long QT syndrome 10 - LQT10 (10.130, 10.156)
Atrial fibrillation, 17 - ATFB17 (10.130, 10.156)
430sodium voltage-gated channel alpha subunit 11
SCN11A (3p22.2)



Neuropathy, hereditary sensory and autonomic, type VII - HSAN7 (14.95)
431sodium voltage-gated channel alpha subunit 9
SCN9A (2q24.3)



Neuropathy, hereditary sensory and autonomic, type IID - HSAN2D (14.90)
432solute carrier family 16, member 1 (monocarboxylic acid transporter 1)
SLC16A1 (1p13.2)



Erythrocyte lactate transporter defect - (9.17)
433Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3
SLC18A3 (10q11.2)



Myasthenic Syndrome, Congenital, 21, Presynaptic - CMS21 (11.27)
434Solute carrier family 22 member 5
SLC22A5 (5q31)



Carnitine deficiency, systemic primary - CDSP (9.18)
435Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1
SLC25A1 (22q11.21)



Congenital myasthenic syndrome related to SLC25A1 - (11.37)
436solute carrier family 25 member 42(M)
SLC25A42 (19p13.11)



Mitochondrial myopathy - (16.36)
437Solute carrier family 33 (acetyl- CoA transporter)
SLC33A1 (3q25.3)



Spastic paraplegia 42, autosomal dominant - SPG42 (15.18)
438Solute carrier family 5 (sodium/choline cotransporter), member 7
SLC5A7 (2q12.31)



Motor neuropathy, distal, with vocal cord paralysis - HMN7 (11.26, 12.24)
Congenital myasthenic syndrome with episodic apnea - CMS20 (11.26, 12.24)
439Solute carrier family 52, riboflavin transporter, member 2
SLC52A2 (8q24)



Brown-Vialetto-Van Laere syndrome 2 - BVVLS2 (12.75)
440Solute carrier family 52, riboflavin transporter, member 3
SLC52A3 (20p13)



Brown-Vialetto-Van Laere syndrome 1 - BVVLS1 (12.74)
441sorting nexin 14
SNX14 (6q14.3)



Spinocerebellar ataxia, autosomal recessive 20 - SCAR20 (13.69)
442Spartin
SPG20 (13q12.3)



Spastic paraplegia 20 - SPG20 (15.26)
443Spastin
SPAST (2p24-p21)



Familial spastic paraplegia, autosomal dominant, 2 - FSP2 (15.2)
Spastic paraplegia 4 - SPG4 (15.2)
444Spastizin
ZFYVE26 (14q24.1)



Spastic paraplegia 15 - SPG15 (15.24)
445Spatacsin
SPG11 (15q21.1)



Amyotrophic lateral sclerosis 5 - ALS5 (12.42, 14.81, 15.22)
Spastic paraplegia 11 - SPG11 (12.42, 14.81, 15.22)
Charcot-Marie-Tooth neuropathy Type 2X - CMT2X (12.42, 14.81, 15.22)
446Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
SYNE1 (6q25)



Dilated cardiomyopathy related to nesprin-1 - (1.6, 10.82, 13.58, 16.19)
Spinocerebellar ataxia, autosomal recessive 8 - SCAR8 (1.6, 10.82, 13.58, 16.19)
Emery-dreifuss muscular dystrophy 4 - EDMD4 (1.6, 10.82, 13.58, 16.19)
447Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
SYNE2 (14q23.2)



Nesprin-2 related muscular dystrophy - EDMD (1.7)
448Spectrin, Beta, Nonerythrocytic, 2
SPTBN2 (11q13.2)



Spinocerebellar ataxia 5 - SCA5 (13.5, 13.64)
Spinocerebellar ataxia, autosomal recessive 14 - SCAR14 (13.5, 13.64)
449Spectrin, Beta, Nonerythrocytic, 4
SPTBN4 (19q13)



Myopathy, Congenital, With Neuropathy And Deafness - CMND (3.48)
450SPEG complex locus
SPEG (2q35)



Centronuclear myopathy with dilated cardiomyopathy - (3.26)
451Sphingosine-1-Phosphate Lyase 1
SGPL1 (10q22.1)



Charcot-Marie-Tooth disease, axonal - (14.83)
452STIP1 homology and U-box containing protein 1
STUB1 (16p13.3)



Spinocerebellar ataxia, autosomal recessive 16 - SCAR16 (13.66)
453Stromal interaction molecule 1
STIM1 (11p15.4)



Tubular aggregate myopathy 1 - TAM1 (5.30)
454Structural maintenance of chromosomes flexible hinge domain containing 1
SMCHD1 (18p11.32)



Facio-scapulo-humeral muscular dystrophy, type 2 - FSHMD1B (1.11)
455Strumpellin
KIAA0196 (8q24.13)



Spastic paraplegia 8 - SPG8 (15.4)
456succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)
SDHA (5p15)



Recessive neonatal isolated DC - (10.68)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.68)
457Succinate-CoA ligase, ADP-forming, beta subunit(M)
SUCLA2 (13q12.2-q13.3)



Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.34)
458Superoxide dismutase 1, soluble
SOD1 (21q22.1)



Amyotrophic lateral sclerosis 1 - ALS1 (12.37, 12.38)
Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.37, 12.38)
459surfeit 1(M)
SURF1 (9q34.2)



Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.31)
460Survival 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)
461synaptosome associated protein 25
SNAP25 (20p12.2)



Congenital myasthenic syndrome with intellectual disability and ataxia - CMS18 (11.24)
462Synaptotagmin 14
SYT14 (1q32.2)



Spinocerebellar ataxia, autosomal recessive 11 - SCAR11 (13.61)
463Synaptotagmin II
SYT2 (1q32.1)



Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy - MYSPC (11.13)
464Syntrophin, alpha 1
SNTA1 (20q11.21)



Long QT syndrome 12 - LQT12 (10.132)
465Tafazzin
TAZ (Xq28)



Cardiomyopathy, X-linked dilated - CMD3A (10.75, 10.91)
Noncompaction of left ventricular myocardium, isolated - INVM (10.75, 10.91)
Endocardial fibroelastosis-2 - G4.5 (10.75, 10.91)
Barth syndrome - BTHS (10.75, 10.91)
466TAR DNA binding protein
TARDBP (1p36.2)



amyotrophic lateral sclerosis 10 - ALS10 (12.47)
467TATA box binding protein
TBP (6q27)



Spinocerebellar ataxia 17 - SCA17 (13.15)
468Tau tubulin kinase 2
TTBK2 (15q15.2)



Spinocerebellar ataxia 11 - SCA11 (13.10)
469tectonin beta-propeller repeat containing 2
TECPR2 (14q32)



Spastic paraplegia 49, autosomal recessive - SPG49 (15.44)
470Telethonin
TCAP (17q12)



Dilated cardiomyopathy, 1N - (1.27, 2.16, 10.26, 10.49)
Congenital musuclar dystrophy with telethonin defect - (1.27, 2.16, 10.26, 10.49)
Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.27, 2.16, 10.26, 10.49)
Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.27, 2.16, 10.26, 10.49)
471Thymidine kinase 2, mitochondrial(M)
TK2 (16q22-q23)



Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.31, 16.33)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.31, 16.33)
472thyroid hormone receptor interactor 4
TRIP4 (15q22.31)



Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.10)
Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.10)
473Titin
TTN (2q31)



Congenital myopathy with fatal cardiomyopathy - (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Centronuclear myopathy related to TTN - (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Tibial muscular dystrophy, tardive - TMD (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Hereditary myopathy with early respiratory failure - HMERF (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Cardiomyopathy, dilated, 1G - CMD1G (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.30, 3.25, 3.42, 4.2, 5.17, 10.8, 10.42)
474Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)
TTPA (8q13.1-q13.3)



Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.49)
Ataxia with isolated vitamin E deficiency - TTPA (13.49)
475Torsin A
TOR1A (9q34)



Torsion dystonia, early onset - EOTD (16.1)
476Torsin A interacting protein 1
TOR1AIP1 (1q25.2)



LAP1B related muscular dystrophy - (1.9, 1.45)
Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.45)
477trafficking 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 (1.39, 2.40)
Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.39, 2.40)
478Trans-2,3-Enoyl-CoA Reductase-Like Protein
TECRL (4q13.1)



Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.117)
479Transforming growth factor, beta 3
TGFB3 (14q24.3)



Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.103)
Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.103)
480Transglutaminase 6
TGM6 (20p13)



Spinocerebellar ataxia 35 - SCA35 (13.31)
481transient receptor potential cation channel subfamily C member 3
TRPC3 (4q27)



Spinocerebellar ataxia 41 - SCA41 (13.36)
482Transient receptor potential cation channel, subfamily V, member 4
TRPV4 (12q23-q24)



Scapuloperoneal spinal muscular atrophy - SPSMA (12.27, 12.28, 14.45)
Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.27, 12.28, 14.45)
Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.27, 12.28, 14.45)
483transmembrane protein 240
TMEM240 (1p36.33)



Spinocerebellar ataxia 19 - SCA21 (13.19)
484Transmembrane 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)
485Transmembrane protein 5
TMEM5 (12q14.2)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.36)
486Transmembrane Protein 65
TMEM65 (8q24.13)



Mitochondrial myopathy with severe neurological manifestations - (16.43)
487Transportin 3
TNPO3 (7q32.1-q32.2)



Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18)
488Transthyretin (prealbumin, amyloidosis type I)
TTR (18q12.1)



Familial amyloid neuropathy - (16.4)
489Triadin
TRDN (6q22.31)



CPVT5 - Ventricular tachycar (10.119)
490Tripartite motif containing 2
TRIM2 (4q31.3)



Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.78)
491Tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM63 (1p36.11)



Cardiac and skeletal aggregate myopathy - (5.11)
492Tripartite motif-containing 32
TRIM32 (9q33.2)



Sarcotubular myopathy - (1.28, 3.45)
Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.28, 3.45)
493Tripartite motif-containing 54
TRIM54 (2p.23.3)



Cardiac and skeletal aggregate myopathy - (5.11)
494TRK-fused gene
TFG (3q13)



Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.63, 15.52)
Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.63, 15.52)
Spastic paraplegia 57, autosomal recessive - SPG57 (14.63, 15.52)
495Tropomyosin 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)
496Tropomyosin 2 (beta)
TPM2 (9p13)



Arthrogryposis, distal, type 1A - DA1A (3.4, 3.38, 16.9, 16.15)
arthrogryposis, distal, type 2B - DA2B (3.4, 3.38, 16.9, 16.15)
Nemaline myopathy 4 - NEM4 (3.4, 3.38, 16.9, 16.15)
Cap myopathy, TPM2-related, included - (3.4, 3.38, 16.9, 16.15)
497Tropomyosin 3
TPM3 (1q21.2)



Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.16, 3.39)
498Troponin 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)
499Troponin I, type 2
TNNI2 (11p15.5)



Arthrogryposis, distal, type 2B - DA2B (16.12)
500Troponin 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)
501Troponin T3, skeletal
TNNT3 (11p15.5)



Arthrogryposis, distal, type 2B - DA2B (16.13)
502tryptophanyl-tRNA synthetase
WARS (14q32.2)



Neuronopathy, distal hereditary motor, type IX - HMN9 (12.23)
503Ts translation elongation factor, mitochondrial(M)
TSFM (12q14.1)



Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
504Tubulin, Alpha-4A
TUBA4A (2q35)



Amyotrophic lateral sclerosis 22 - ALS22 (12.59)
505Tubulin, beta 3
TUBB3 (16q24)



Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
506Tyrosyl-DNA phosphodiesterase 1
TDP1 (14q31-q32)



spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.76)
507Tyrosyl-DNA phosphodiesterase 2
TDP2 (6p22.3)



Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.72)
508Tyrosyl-tRNA synthetase
YARS (1p35.1)



Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.14)
509tyrosyl-tRNA synthetase 2, mitochondrial(M)
YARS2 (12p11.21)



Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.39)
510Ubiquilin 2
UBQLN2 (Xp11.21)



Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia - ALS15 (12.52)
511Ubiquitin Carboxyl-Terminal Esterase L1
UCHL1 (4p13)



Spastic paraplegia 79, autosomal recessive - SPG79 (15.62)
512Ubiquitin-activating enzyme 1
UBA1 (Xp11.23)



Spinal muscular atrophy, distal, Xlinked, related to UBA1 - SMAX2 (12.35)
513UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1
B4GAT1 (11q13.2)



Walker-Warburg syndrome (WWS) - MDDGA13 (2.26)
514UDP-N-acetylglucosami-nyltransferase
ALG13 (Xq23)



Congenital muscular dystrophy with hypoglycosylation of dystroglycan - CDG1S (2.36)
515UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase
GNE (9p13.3)



Inclusion body myopathy, autosomal recessive - IBM2 (4.3)
Nonaka myopathy - NM (4.3)
516UDP-N-acetylglucosaminyltransferase
ALG14 (1p21.3)



Congenital myasthenic syndrome related to ALG14 - (11.21)
517unc-13 homolog B (C. elegans)
UNC13B (9p13.3)



Presynaptic congenital myasthenic sydrome related to MUNC13-1 - (11.36)
518V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4
ERBB4 (2q34)



Amyotrophic lateral sclerosis 19 - ALS19 (12.56)
519V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)
ERBB3 (12q13)



Lethal congenital contracture syndrome 2 - LCCS2 (12.69)
520V-Ha-RAS Harvey Rat Sarcoma Viral
HRAS (11p15.5)



Myopathy, congenital, With excess of muscle spindles - CMEMS (3.49)
521V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1
RAF1 (3p25.2)



Dilated cardiomyopathy related to RAF1 - CMD1NN (10.75)
522Vaccinia related kinase 1
VRK1 (14q32)



Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge - (12.72, 14.110)
Pontocerebellar hypoplasia type 1 - PCH1 (12.72, 14.110)
523Vacuolar protein sorting-associated protein 37A
VPS37A (8p22)



Spastic paraplegia 53, autosomal recessive - SPG53 (15.48)
524Valosin-containing protein
VCP (9p13-p12)



Distal myopathy related to VCP - IBMPFD (1.48, 4.17, 5.26, 12.51, 14.61)
Inclusion body myopathy with early-onset paget disease and frontotemporal dement - IBMPFD (1.48, 4.17, 5.26, 12.51, 14.61)
Scapuloperoneal muscular dystrophy and dropped head syndrome - (1.48, 4.17, 5.26, 12.51, 14.61)
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia - ALS14 (1.48, 4.17, 5.26, 12.51, 14.61)
Charcot-Marie-Tooth neuropathy Type 2Y - CMT2Y (1.48, 4.17, 5.26, 12.51, 14.61)
525vesicle associated membrane protein (synaptobrevin 1)
VAMP1 (12p13)



Presynaptic congenital myasthenic syndrome - (11.34, 15.69)
ataxia, spastic, 1, autosomal dominant - SPAX1 (11.34, 15.69)
526Vesicle-associated membrane protein-associated protein B and C
VAPB (7p15)



Spinal muscular atrophy, late-onset, Finkel type - SMAFK (12.32, 12.45)
Amyotrophic lateral sclerosis - ALS8 (12.32, 12.45)
527Vinculin
VCL (10q22.1-q23)



Cardiomyopathy, dilated, 1W - CMD1W (10.14, 10.58)
Cardiomyopathy, familial hypertrophic, 15 - CMH15 (10.14, 10.58)
528VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
VMA21 (Xq28)



Myopathy, X-linked, with excessive autophagy - XMEA (5.14)
529Voltage-gated potassium channel, subfamily H, member 2
KCNH2 (7q35-q36)



Long QT syndrome-2 - LQT2 (7.15, 10.122, 10.136)
Short qt syndrome 1 - SQT1 (7.15, 10.122, 10.136)
530Voltage-gated sodium channel type V alpha
SCN5A (3p21)



Progressive familial heart block, type I - PFHBI (7.7, 10.123, 10.158, 10.168, 10.41)
Hereditary bundle branch system defect - HBBD (7.7, 10.123, 10.158, 10.168, 10.41)
Cardiac conduction defect, progressive - PCCD (7.7, 10.123, 10.158, 10.168, 10.41)
Brugada syndrome - SCN5A (7.7, 10.123, 10.158, 10.168, 10.41)
Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.123, 10.158, 10.168, 10.41)
Ventricular fibrillation, idiopathic - IVF (7.7, 10.123, 10.158, 10.168, 10.41)
Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.123, 10.158, 10.168, 10.41)
Long QT syndrome-3 - LQT3 (7.7, 10.123, 10.158, 10.168, 10.41)
Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.123, 10.158, 10.168, 10.41)
531Von Willebrand factor A domain Containing Protein 3B
VWA3B (2q11.2)



Spinocerebellar ataxia, autosomal recessive 22 - SCAR22 (13.71)
532W-Ray Repair, Complementing Defective, In Chinese Hamster, 1
XRCC1 (19q13.31)



Spinocerebellar ataxia, autosomal recessive 26 - SCAR26 (13.75)
533WNK lysine deficient protein kinase 1
WNK1 (12p.13)



neuropathy, hereditary sensory and autonomic, type iia - HSAN2 (14.88)
534WW Domain-Containing Oxidoreductase
WWOX (16q23.1-q23.2)



Spinocerebellar ataxia, autosomal recessive 12 - SCAR12 (13.62)
535zinc finger homeobox 2
ZFHX2 (14q11.2)



Marssili syndrome (insensitivity to pain, congenital, AD) - MARSIS (14.103)