Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.102)
CLTCL1 (22q11.21)
Clathrin, heavy polypeptide-like 1



2ACAD9-deficient mild myopathy (9.24)
ACAD9 (3q21.3)
acyl-CoA dehydrogenase family member 9(M)



3Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.46, 7.10, 13.41)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



4Acyl-CoA dehydrogenase (very long chain) deficiency (9.23)
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)



5Adolescent onset distal myopathy (4.18)
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



6Adult onset distal myopathy (4.6)
? - (8p22-q11)

7Agenesis of the corpus callosum with peripheral neuropathy (14.104)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



8Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.63)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



9Amyotrophic lateral sclerosis (12.40)
? - (18q21)

10Amyotrophic lateral sclerosis (12.45, 12.32)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



11Amyotrophic lateral sclerosis (12.44)
? - (20p13)

12Amyotrophic lateral sclerosis (12.43)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



13Amyotrophic lateral sclerosis 1 (12.37, 12.38)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.47)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.30, 12.48)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.49)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.50)
ATXN2 (12q24.12)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.26, 4.17, 12.51, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.52)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.53)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.54)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.55)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 19 (12.56)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



24Amyotrophic lateral sclerosis 20 (3.37, 12.57)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



25Amyotrophic lateral sclerosis 22 (12.59)
TUBA4A (2q35)
Tubulin, Alpha-4A



26Amyotrophic lateral sclerosis 5 (15.22, 12.42, 14.81)
SPG11 (15q21.1)
Spatacsin



27Amyotrophic lateral sclerosis 5 (
? - (15q15-q21)

28amyotrophic lateral sclerosis 9 (12.46)
ANG (14q11.2)
Angiogenin



29Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.33, 12.66, 16.40)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.65)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



31Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.67, 4.19)
SQSTM1 (5q35.3)
Sequestosome 1



32Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.37, 12.38)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



33Amyotrophic lateral sclerosis, juvenile (12.39, 15.64)
ALS2 (2q33.2)
Alsin



34Amyotrophic lateral sclerosis, susceptibility to, 24 (12.61)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



35Amytrophic lateral sclerosis 23 (12.60)
ANXA11 (10q23.3)
Annexin A11



36Andermann syndrome (14.104)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



37Arrhythmogenic right ventricular cardiomyopathy 2 (10.104, 10.115)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



38Arrhythmogenic right ventricular cardiomyopathy 3 (10.105)
? - (14q12-q22)

39Arrhythmogenic right ventricular cardiomyopathy 4 (10.106)
? - (2q32.1-q32.3)

40Arrhythmogenic right ventricular cardiomyopathy 6 (10.108)
? - (10p14-p12)

41Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



42Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.17, 10.44, 1.38, 5.12)
DES (2q35)
Desmin



43Arrhythmogenic right ventricular dysplasia-3 (10.105)
? - (14q12-q22)

44Arrhythmogenic right ventricular dysplasia, 1 (10.103)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



45Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



46Arrhythmogenic right ventricular dysplasia, 11 (10.112)
DSC2 (18q12.1)
Desmocollin 2



47Arrhythmogenic right ventricular dysplasia, 8 (10.109)
DSP (6p24)
Desmoplakin



48Arrhythmogenic right ventricular dysplasia, 9 (10.110)
PKP2 (12p11)
Plakophilin 2



49Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



50arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113)
JUP (17q21)
Junction plakoglobin



51Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114)
CTNNA3 (10q21.3)
Catenin alpha 3



52Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106)
? - (2q32.1-q32.3)

53arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



54Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108)
? - (10p14-p12)

55arrhythmogenic right ventricular dysplasia, familial, 7 ()
? - (10q22)

56Arthrogryposis multiplex congenita with cerebral and cerebellar atrophy (16.20)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



57Arthrogryposis, distal, type 1B (16.10)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



58Arthrogryposis, distal, type 3 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



59Arthrogryposis, distal, type 5 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



60Arthrogryposis, distal, type 1A (3.4, 3.38, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



61Arthrogryposis, distal, type 2A (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



62arthrogryposis, distal, type 2B (3.4, 3.38, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



63Arthrogryposis, distal, type 2B (16.12)
TNNI2 (11p15.5)
Troponin I, type 2



64Arthrogryposis, distal, type 2B (16.13)
TNNT3 (11p15.5)
Troponin T3, skeletal



65Arthrogryposis, distal, type 2B (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



66Asymmetric septal hypertrophy (10.53, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



67ataxia telangiectasia (13.80)
ATM (11q22.3)
Ataxia telangiectasia mutated



68ataxia telangiectasia-like disorder (13.81)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



69Ataxia with isolated vitamin E deficiency (13.49)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



70ATAXIA-oculomotor apraxia 2 (12.41, 13.52)
SETX (9q34.13)
Senataxin



71Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.51)
APTX (9p13.3)
Aprataxin



72Ataxia, Friedreich-like, with selective vitamin E deficiency (13.49)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



73Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.101)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



74ataxia, spastic, 1, autosomal dominant (15.69, 11.34)
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



75ataxia, spastic, 2, autosomal recessive (15.70)
KIF1C (17p13.2)
kinesin family member 1C



76ATFB18 (10.157)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



77atrial fibillation, familial, 8 (10.148)
? - (16q22)

78Atrial fibrillation, 1 (10.141)
? - (10q22-q24)

79Atrial fibrillation, 13 (10.162, 10.152)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



80Atrial fibrillation, 14 (10.153)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



81Atrial fibrillation, 15 (10.154)
NUP155 (5p13.2)
Nucleoporin 155 kDa



82Atrial fibrillation, 16 (10.164, 10.155)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



83Atrial fibrillation, 17 (10.130, 10.156)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



84Atrial fibrillation, 2 (10.142)
? - (10q22-q24)

85Atrial fibrillation, 3 (10.139, 10.121, 7.17, 7.16, 10.143, 10.137)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



86Atrial fibrillation, 4 (7.18, 10.126, 10.140, 10.144)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



87Atrial fibrillation, 9 (7.14, 10.127, 10.138, 10.149)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



88atrial fibrillation, familial (10.147)
KCNA5 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 5



89atrial fibrillation, familial, 1 (10.150, 10.151)
GJA5 (1q21.1)
Connexin 40



90atrial fibrillation, familial, 5 (10.145)
? - (4q25)

91atrial fibrillation, familial, 6 (10.146)
NPPA (1p36)
Natriuretic peptide precursor A



92Autophagic vacuolar myopathy (5.15)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



93Autosomal dominant early-onset proximal spinal muscular atrophy ()
94Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



95Autosomal recessive CMT axonal type 2S (12.5, 14.79)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



96Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.72)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



97Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.74, 13.82)
SACS (13q12)
Sacsin



98autosomal recessive spastic ataxia with leukoencephalopathy (15.71)
MARS2 (2q33-34)
methionyl-tRNA synthetase 2, mitochondrial(M)



99Axonal neuropathy intermediate recessive C (
100Axonal neuropathy intermediate recessive C (12.8, 14.76)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



101Axonal neuropathy recessive (14.75)
KARS (16q23.1)
Lysyl-tRNA synthetase



102Axonal neuropathy with myotonia (14.73)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



103Barth syndrome (10.75, 10.91)
TAZ (Xq28)
Tafazzin



104Becker muscular distrophy (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



105Bethlem myopathy (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



106Bethlem myopathy (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



107Bethlem myopathy (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



108Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



109Brody myopathy (6.8)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



110Brown-Vialetto-Van Laere syndrome 1 (12.74)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



111Brown-Vialetto-Van Laere syndrome 2 (12.75)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



112Brugada syndrome (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



113brugada syndrome 2 (10.159)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



114brugada syndrome 3 (10.128, 10.160)
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



115brugada syndrome 4 (10.161)
CACNB2 (10p12)
Calcium channel, voltage-dependent, beta 2 subunit



116Brugada syndrome 5 (10.162, 10.152)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



117Brugada syndrome 6 (7.11, 10.163)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



118Brugada syndrome 7 (10.164, 10.155)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



119Brugada syndrome 8 (10.167, 10.165)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



120Brugada syndrome 9 (13.17, 10.166)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



121Cap myopathy, TPM2-related, included (3.4, 3.38, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



122Cardiac and skeletal aggregate myopathy (5.11)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



123Cardiac and skeletal aggregate myopathy (5.11)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



124Cardiac conduction defect, progressive (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



125cardiac valvular dysplasia, x-linked (10.102)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



126Cardimyopathy, dilated, 1A (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



127Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.84)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



128Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



129cardiomyopathy, dilated 1C (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



130Cardiomyopathy, dilated, 1A (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



131Cardiomyopathy, dilated, 1CC (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



132Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



133Cardiomyopathy, dilated, 1DD (10.65)
RBM20 (10q25.3)
RNA binding motif protein 20



134Cardiomyopathy, dilated, 1E (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



135Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.169)
MYH6 (14q12)
Myosin heavy chain 6



136Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



137Cardiomyopathy, dilated, 1G (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



138Cardiomyopathy, dilated, 1GG (10.68)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



139Cardiomyopathy, dilated, 1H (10.43)
? - (2q14-q22)

140Cardiomyopathy, dilated, 1J (10.45)
EYA4 (6q23-24)
Eyes absent 4



141Cardiomyopathy, dilated, 1K (10.46)
? - (6q12-q16)

142Cardiomyopathy, dilated, 1M (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



143Cardiomyopathy, dilated, 1O (10.50)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



144Cardiomyopathy, dilated, 1P (10.51, 10.19)
PLN (6q22.1)
Phospholamban



145Cardiomyopathy, dilated, 1Q (10.52)
? - (7q22.3-q31.1)

146Cardiomyopathy, dilated, 1R (10.53, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



147Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



148Cardiomyopathy, dilated, 1T (10.55)
TMPO (12q22)
Lamina-associated polypeptide 2



149Cardiomyopathy, dilated, 1U (10.56)
PSEN1 (14q24.2)
Presenilin 1



150Cardiomyopathy, dilated, 1W (10.57)
PSEN2 (1q42.13)
Presenilin 2



151Cardiomyopathy, dilated, 1W (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



152Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



153Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



154Cardiomyopathy, dilated, 1Z (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



155Cardiomyopathy, dilated, 2B (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



156Cardiomyopathy, Dilated, 3B (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



157Cardiomyopathy, dilated, X-linked (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



158Cardiomyopathy, familial dilated, 1 (10.38)
? - (9q13)

159cardiomyopathy, familial hypertrophic (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



160cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



161Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



162Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.169)
MYH6 (14q12)
Myosin heavy chain 6



163Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



164Cardiomyopathy, familial hypertrophic 27 (10.28)
ALPK3 (15q25.3)
Alpha kinase 3



165cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



166Cardiomyopathy, familial hypertrophic, 10 (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



167Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



168Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



169Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



170Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



171Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



172Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19)
PLN (6q22.1)
Phospholamban



173Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



174Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



175Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



176Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



177Cardiomyopathy, familial hypertrophic, 9 (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



178Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



179Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



180Cardiomyopathy, hypertrophic, mid-left ventricular chamber type (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



181Cardiomyopathy, X-linked dilated (10.75, 10.91)
TAZ (Xq28)
Tafazzin



182Carnitine deficiency, systemic primary (9.18)
SLC22A5 (5q31)
Solute carrier family 22 member 5



183Carnitine-acylcarnitine translocase deficiency (9.19)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



184Central core disease (8.1, 3.29, 3.30, 3.41, 3.24, 3.17, 5.29, 3.28)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



185Centronuclear myopathy 4 (3.27)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



186Centronuclear myopathy 6 with fiber-type disproportion (3.19)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



187Centronuclear myopathy related to TTN (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



188Centronuclear myopathy with dilated cardiomyopathy (3.26)
SPEG (2q35)
SPEG complex locus



189centronuclear myopathy, dominant (3.21, 2.15, 4.14, 14.13)
DNM2 (19p13.2)
Dynamin 2



190centronuclear myopathy, recessive (8.1, 3.29, 3.30, 3.41, 3.24, 3.17, 5.29, 3.28)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



191Centronuclear myopathy, related to BIN1, dominant (3.22, 3.23)
BIN1 (2q14)
Amphiphysin



192Centronuclear myopathy, related to BIN1, recessive (3.22, 3.23)
BIN1 (2q14)
Amphiphysin



193Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.85)
RNF216 (7p22.1)
Ring finger protein 216



194Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

195Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.46, 7.10, 13.41)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



196Cerebellar ataxia, pure (7.9, 13.6, 13.46, 7.10, 13.41)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



197Chanarin-Dorfman syndrome (9.25)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



198Charcot-Marie-Tooth 2 (14.58)
MARS (12q13.3)
methionyl-tRNA synthetase



199Charcot-Marie-Tooth disease with deafness and mental retardation (14.35, 16.42)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



200Charcot-Marie-Tooth disease, axonal (14.83)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



201Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



202Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.84)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



203Charcot-Marie-Tooth disease, axonal, type 20 (14.55, 12.30)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



204Charcot-Marie-Tooth disease, axonal, type 2A2B (14.43, 14.69)
MFN2 (1p36.22)
Mitofusin 2(M)



205Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



206Charcot-Marie-Tooth disease, axonal, type 2CC (12.62, 14.66)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



207Charcot-Marie-Tooth disease, axonal, type 2D (14.46, 12.19)
GARS (7p15)
Glycyl-tRNA synthetase



208Charcot-Marie-Tooth disease, axonal, type 2DD (14.68)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



209Charcot-Marie-Tooth disease, axonal, type 2N (12.22, 14.54)
AARS (16q22.1)
Alanyl-tRNA synthetase



210Charcot-Marie-Tooth disease, congenital, vertical talus (14.8)
HOXD10 (2q31.1)
Homeobox D10



211Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



212Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.47, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



213Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.19, 14.52, 14.74)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



214Charcot-Marie-Tooth disease, recessive intermediate, A (14.19, 14.52, 14.74)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



215Charcot-Marie-Tooth disease, type 1A (14.1, 14.38, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



216Charcot-Marie-Tooth disease, type 1B (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



217Charcot-Marie-Tooth disease, type 1D (14.4, 14.25, 14.40)
EGR2 (10q21.1)
Early growth response 2 protein



218Charcot-Marie-Tooth disease, type 1E (14.1, 14.38, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



219Charcot-Marie-Tooth disease, type 1F (14.7, 14.47, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



220Charcot-Marie-Tooth disease, type 2A1 (14.42)
KIF1B (1p36.2)
Kinesin family member 1B(M)



221Charcot-Marie-Tooth disease, type 2B2 (14.71)
MED25 (19q13)
Mediator complex subunit 25



222Charcot-Marie-Tooth disease, type 2E (14.7, 14.47, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



223Charcot-Marie-Tooth disease, type 2I (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



224Charcot-Marie-Tooth disease, type 2J (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



225Charcot-Marie-Tooth disease, type 2K (14.19, 14.52, 14.74)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



226Charcot-Marie-Tooth disease, type 4A (14.19, 14.52, 14.74)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



227Charcot-Marie-Tooth disease, type 4B1 (14.20)
MTMR2 (11q22)
Myotubularin-related protein 2



228charcot-marie-tooth disease, type 4b2 (14.21)
SBF2 (11p15.4)
SET binding factor 2



229Charcot-Marie-Tooth disease, type 4D (14.24, )
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



230Charcot-Marie-Tooth disease, type 4F (14.27, 14.41)
PRX (19q13)
Periaxin



231charcot-marie-tooth disease, type 4j (14.30, 12.48)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



232charcot-marie-tooth disease, x-linked recessive, 2 (14.33)
? - (Xp22.2)

233charcot-marie-tooth disease, x-linked recessive, 3 (14.34)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



234charcot-marie-tooth disease, x-linked recessive, 5 (14.36)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



235Charcot-Marie-Tooth neuropathy Type 2B (14.44)
RAB7A (3q21)
RAB7, member RAS oncogene family



236Charcot-Marie-Tooth neuropathy Type 2F (14.48, 12.16)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



237Charcot-Marie-Tooth neuropathy Type 2G ()
238Charcot-Marie-Tooth neuropathy Type 2H (14.49)
? - (8q21.3)

239Charcot-Marie-Tooth neuropathy Type 2L (14.53, 12.15)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



240Charcot-Marie-Tooth neuropathy Type 2P (14.56)
LRSAM1 (9q33.3)
leucine rich repeat and sterile alpha motif containing 1



241Charcot-Marie-Tooth neuropathy Type 2Q (14.57)
DHTKD1 (10p14)
dehydrogenase E1 and transketolase domain containing 1



242Charcot-Marie-Tooth neuropathy Type 2R (14.78)
TRIM2 (4q31.3)
Tripartite motif containing 2



243Charcot-Marie-Tooth neuropathy Type 2T (14.80, 13.39)
MME (3q25.2)
membrane metallo-endopeptidase



244Charcot-Marie-Tooth neuropathy Type 2V (14.59)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



245Charcot-Marie-Tooth neuropathy Type 2W (14.60)
HARS (5q31.3)
histidyl-tRNA synthetase



246Charcot-Marie-Tooth neuropathy Type 2X (15.22, 12.42, 14.81)
SPG11 (15q21.1)
Spatacsin



247Charcot-Marie-Tooth neuropathy Type 2Y (5.26, 4.17, 12.51, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



248Charcot-Marie-Tooth neuropathy Type 2Z (14.62)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



249Charcot-Marie-Tooth neuropathy Type 4B3 (14.22)
SBF1 (22q13.33)
SET binding factor 1



250Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.25, 14.40)
EGR2 (10q21.1)
Early growth response 2 protein



251Charcot-Marie-Tooth neuropathy Type 4F (14.23)
SH3TC2 (5q32)
KIAA1985 protein



252Charcot-Marie-Tooth neuropathy Type 4G (14.28)
HK1 (10q22.1)
Hexokinase 1(M)



253Charcot-Marie-Tooth neuropathy Type 4H (14.29)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



254Charcot-Marie-Tooth neuropathy Type 4K (14.31)
SURF1 (9q34.2)
surfeit 1(M)



255Charcot-Marie-Tooth neuropathy Type F (14.17)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



256Charcot-Marie-Tooth neuropathy with glomerulopathy (14.16)
INF2 (14q32-33)
Inverted formin 2



257Charcot-Marie-Tooth neuropathy X-linked 6 (14.37)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



258charcot-marie-tooth neuropathy, dominant intermediate A (14.12, 14.11)
PMP2 (8q21.13)
peripheral myelin protein-2



259Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.14)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



260Charcot-Marie-Tooth neuropathy, with fibulin defect (14.10)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



261Charcot-Marie-Tooth neuropathy, X-linked (14.32, 14.40)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



262Charlevoix disease (14.104)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



263CMT recessive intermediate D (14.77)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



264CMT1 related to PMP2 (14.12, 14.11)
PMP2 (8q21.13)
peripheral myelin protein-2



265CMT2 related to KIF5A (15.6, 14.64)
KIF5A (12q13.13)
Kinesin family member 5A



266COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



267Combined Oxidative phosphorylation Deficiency 6 (14.35, 16.42)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



268Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.72, 14.110)
VRK1 (14q32)
Vaccinia related kinase 1



269congenital cataracts, facial dysmorphism, and neuropathy (14.109)
CTDP1 (18q23)
CTD phosphatase subunit 1



270congenital lethal myopathy (3.44)
CNTN1 (12q11-q12)
Contactin-1



271Congenital muscle dystrophy with joint hyperlaxity (2.42)
? - (3p23-21)

272Congenital muscle dystrophy with mitochondrial structural abnormalities (2.43)
CHKB (22q13)
Choline kinase beta



273Congenital muscular dystrophy (2.44)
? - (1q42)

274Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.34)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



275Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



276Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.39, 2.40)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



277Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.33)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



278Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.36)
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



279Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.41)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



280Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.38)
POMK (8p11.21)
Protein-O-mannose kinase



281Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.36)
TMEM5 (12q14.2)
Transmembrane protein 5



282Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.36, 2.35)
DAG1 (3p21)
Dystroglycan1



283Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.37)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



284Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



285Congenital muscular dystrophy with merosin deficiency (2.44)
? - (1q42)

286Congenital muscular dystrophy with rigid spine related to ACTA1 (3.14, 3.3, 3.40, 2.45, 10.95)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



287Congenital musuclar dystrophy with telethonin defect (1.27, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



288Congenital Myasthenia (11.32)
MYO9A (15q23)
myosin IXA



289Congenital myasthenic syndrome (11.23)
LRP4 (11p11.2)
LDL receptor related protein 4



290Congenital myasthenic syndrome related to ALG14 (11.21)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



291Congenital myasthenic syndrome related to ALG2 (11.20)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



292Congenital Myasthenic syndrome related to GMPPB (1.40, 2.39, 2.30, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



293Congenital myasthenic syndrome related to MuSK (11.15, 16.21)
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase



294Congenital myasthenic syndrome related to RPH3A (11.38)
RPH3A (12q23.3)
rabphilin 3A



295Congenital myasthenic syndrome related to SLC25A1 (11.37)
SLC25A1 (22q11.21)
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1



296Congenital myasthenic syndrome type 19 (11.29)
COL13A1 (10q22.1)
collagen type XIII alpha 1 chain



297Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



298Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.11)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



299Congenital myasthenic syndrome with episodic apnea (12.24, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



300Congenital myasthenic syndrome with intellectual disability and ataxia (11.24)
SNAP25 (20p12.2)
synaptosome associated protein 25



301Congenital myopathy related to PTPLA (3.46)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



302Congenital myopathy with fatal cardiomyopathy (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



303Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.47)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



304congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



305Cowchock syndrome (14.35, 16.42)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



306CPT deficiency, hepatic, type II (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



307CPVT5 (10.119)
TRDN (6q22.31)
Triadin



308CRASH syndrome (15.65)
L1CAM (Xq28)
L1 cell adhesion molecule



309CRASH syndrome (15.65)
L1CAM (Xq28)
L1 cell adhesion molecule



310Creatine phosphokinase, elevated serum (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



311Danon disease (5.13)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



312Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45)
EYA4 (6q23-24)
Eyes absent 4



313Dejerine-Sottas neuropathy (14.4, 14.25, 14.40)
EGR2 (10q21.1)
Early growth response 2 protein



314Dejerine-Sottas neuropathy, autosomal recessive (14.27, 14.41)
PRX (19q13)
Periaxin



315Dejerine-Sottas syndrome (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



316Dejerine-Sottas Syndrome (14.1, 14.38, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



317Desmin-related myopathy (5.1, 1.17, 10.44, 1.38, 5.12)
DES (2q35)
Desmin



318Desmin-related myopathy with Mallory bodies (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



319Dilated cardiomyopathy realted to GATAD1 (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



320Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



321Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



322Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



323Dilated Cardiomyopathy related to DOLK (10.84)
DOLK (9q34.13)
Dolichol kinase



324Dilated cardiomyopathy related to integrin-linked kinase (10.76)
ILK (11p15.5-p15.4)
Integrin-linked kinase



325Dilated cardiomyopathy related to laminin-alpha4 (10.71)
LAMA4 (6q21)
Laminin alpha 4



326Dilated cardiomyopathy related to MURC (10.83)
MURC (9q31.1)
Muscle-related coiled-coil protein



327Dilated cardiomyopathy related to MYBPC3 (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



328Dilated cardiomyopathy related to nesprin-1 (1.6, 13.58, 16.19, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



329Dilated cardiomyopathy related to PRDM16 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



330Dilated cardiomyopathy related to RAF1 (10.75)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



331dilated cardiomyopathy, 1aa (10.62, 10.24)
ACTN2 (1q42-q43)
Actinin alpha2



332Dilated cardiomyopathy, 1F (
? - (6q23)

333Dilated cardiomyopathy, 1I (5.1, 1.17, 10.44, 1.38, 5.12)
DES (2q35)
Desmin



334Dilated Cardiomyopathy, 1L (1.26, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



335Dilated cardiomyopathy, 1N (1.27, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



336Dilated cardiomyopathy, related to DSG2 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



337Distal myopathy related to caveolin (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



338Distal myopathy related to VCP (5.26, 4.17, 12.51, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



339Distal Spinal Muscular Atrophy with Calf Predominance (12.18)
FBXO38 (5q32)
F-box protein 38



340Distal spinal muscular atrophy, type VB (15.12, 12.21)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



341Dominant distal hereditary motor neuropathy (12.22, 14.54)
AARS (16q22.1)
Alanyl-tRNA synthetase



342Duchenne muscular dystrophy (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



343Dysmyelinating leukodystrophy (15.36)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



344Dyssegmental dysplasia, Silverman-Handmaker type (6.7)
HSPG2 (1p36.1-p34)
Perlecan



345Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



346Early onset axonal neuropathy with sensory ataxia (14.65)
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2



347Early onset calf distal myopathy (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



348Early onset distal myopathy with KLHL9 mutations (4.15)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



349Early onset myopathy, areflexia, respiratory distress and dysphagia (3.33, 3.32)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



350Early-onset axonal Charcot-Marie-Tooth with ataxia (14.82)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



351Early-onset myofibrillar myopathy with PYRODX1 defect (5.9)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



352Emery-Dreifuss Autosomal recessive (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



353Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



354Emery-dreifuss muscular dystrophy 4 (1.6, 13.58, 16.19, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



355Emery-dreifuss muscular dystrophy 6 (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



356Emery-dreifuss muscular dystrophy 7 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



357Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



358Endocardial fibroelastosis-2 (10.75, 10.91)
TAZ (Xq28)
Tafazzin



359Enolase deficiency (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



360Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.18, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



361episodic ataxia type 5, included (13.43)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



362episodic ataxia type 6 (13.44)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



363episodic ataxia type-3 (13.42)
? - (1q42)

364episodic ataxia type-7 (13.45)
? - (19q13)

365Episodic ataxia with myokymia (7.12, )
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



366Episodic ataxia, type 2 (7.9, 13.6, 13.46, 7.10, 13.41)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



367episodic muscle weakness, x-linked (5.25)
? - (Xp22.3)

368Erythrocyte lactate transporter defect (9.17)
SLC16A1 (1p13.2)
solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



369Escobar syndrome (multiple pterygium syndrome) (11.30)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



370Exertional myoglobinuria due to deficiency of LDH-A (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



371Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



372Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



373Familial amyotrophic lateral sclerosis (4.5, 12.58)
MATR3 (5q31)
Matrin 3



374Familial brachial plexus neuropathy (14.106)
SEPT9 (17q25)
Septin 9



375Familial dysautonomia (Riley-Day syndrome) (16.3, 14.91)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



376Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



377Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.169)
MYH6 (14q12)
Myosin heavy chain 6



378Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.19)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



379Familial limb girdle myasthenia related to agrin (11.14)
AGRN (1p36.33)
Agrin



380Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



381Familial limb-girdle myasthenia related to DOK7 (11.16, 16.22)
DOK7 (4p16.2)
Docking protein 7



382familial sinusal bradycardia (10.167, 10.165)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



383Familial spastic paraplegia, autosomal dominant, 1 (
384Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



385Fatty aldehyde dehydrogenase (15.63)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



386Fetal akinesia deformation sequance with MUSK defect (11.15, 16.21)
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase



387Fetal akinesia deformation sequance with MUSK defect (11.16, 16.22)
DOK7 (4p16.2)
Docking protein 7



388Fetal akinesia deformation sequance with MUSK defect (11.17, 16.23)
RAPSN (11p11.2-p11.1)
Rapsyn



389Fibrodysplasia ossificans progressiva (5.20)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



390Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



391Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



392Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24)
Tubulin, beta 3



393Fibrosis of extraocular muscles, congenital, 5 (16.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



394Friedreich ataxia (13.47)
FXN (9q13-q21.1)
Frataxin(M)



395friedreich ataxia 2 (13.48)
? - (9p23-p11)

396Friedreich ataxia with retained reflexes (13.47)
FXN (9q13-q21.1)
Frataxin(M)



397fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



398Giant axonal neuropathy 2 (14.108)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



399Giant axonal neuropathy-1 (14.107)
GAN (16q24.1)
Gigaxonin



400Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



401Glycogen storage disease II (9.1, 10.90, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



402Glycogen storage disease IIb (5.13)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



403glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



404glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



405Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



406Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



407Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



408Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



409Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



410Glycogen storage disease X (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



411Glycogen storage disease XI (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



412Glycogen storage disease XIII (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



413Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



414Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



415glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



416GOLGA2-related congenital muscle dystrophy with brain involvement (2.46)
GOLGA2 (9q34.113)
golgin A2



417Hereditary bundle branch system defect (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



418Hereditary motor and sensory neuropathy – Lom (with deafness) (14.24, )
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



419Hereditary motor and sensory neuropathy 2A (14.43, 14.69)
MFN2 (1p36.22)
Mitofusin 2(M)



420Hereditary motor and sensory neuropathy V (12.26)
? - (4q34.3-q35.2)

421Hereditary motor and sensory, neuropathy, proximal, type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



422Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



423Hereditary myopathy with early respiratory failure (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



424hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.86)
? - (3p24-p22)

425Hereditary sensory and autonomic neuropathy type IV (14.92)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



426Hereditary sensory and autonomic neuropathy type VI (14.94)
DST (6p12.1)
dystonin



427Hereditary sensory and autonomic neuropathy type VIII (14.96)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



428Hereditary sensory neuropathy type IF (14.99)
ATL3 (11q13.1)
atlastin GTPase 3



429Hereditary sensory neuropathy with dementia and hearing loss (14.98)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



430Hereditary sensory neuropathy, type IIB (14.89)
RETREG1 (5p15.1)
family with sequence similarity 134 member B



431Hutchinson-Gilford progeria syndrome (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



432Hydrocephalus with Hirschspung disease and cleft palate (15.65)
L1CAM (Xq28)
L1 cell adhesion molecule



433Hyperckemia, idiopathic (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



434Hyperkalemic periodic paralysis (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



435Hyperkalemic periodic paralysis, type 2 (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



436Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



437Hypertrophic cardiomyopathy related to actinin-2 (10.62, 10.24)
ACTN2 (1q42-q43)
Actinin alpha2



438Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.77, 10.22)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



439Hypertrophic cardiomyopathy related to cardiac myopalladin (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



440Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



441Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



442Hypertrophic cardiomyopathy related to nexilin (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



443Hypertrophic cardiomyopathy related to phospholamban (10.51, 10.19)
PLN (6q22.1)
Phospholamban



444Hypertrophic cardiomyopathy related to TCAP (1.27, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



445Hypertrophic cardiomyopathy related to ZASP (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



446Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.36)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



447Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.32)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



448Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



449Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



450Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.47)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



451Hypokalaemic periodic paralysis, type 3 (7.11, 10.163)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



452Hypokalemic periodic paralysis (7.8, 8.5, 3.47)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



453Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.26, 4.17, 12.51, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



454Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.27)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



455Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



456Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



457Infantile-onset multisystem disease with progressive muscle weakness (16.45)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



458Isolated inclusion body myopathy (3.37, 12.57)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



459jervell and lange-nielsen syndrome (10.139, 10.121, 7.17, 7.16, 10.143, 10.137)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



460Jervell and Lange-Nielsen syndrome (10.125, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



461Kennedy disease (12.34)
AR (Xq11.2-q12)
Androgen receptor



462Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



463LAP1B related muscular dystrophy (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



464Late onset spinal muscular atrophy related to HEXB (12.76)
HEXB (5q13.3)
Hexosaminidase B



465late-onset spinal motor neuronopathy, Jokela type (12.33, 12.66, 16.40)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



466Left ventricular noncompaction 10 (10.4, 3.43, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



467Left ventricular noncompaction 2 (10.93)
? - (11q15)

468Left ventricular noncompaction 3 (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



469Left ventricular noncompaction 4 (3.14, 3.3, 3.40, 2.45, 10.95)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



470Left ventricular noncompaction 5 (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



471Left ventricular noncompaction 6 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



472Left ventricular noncompaction 7 (10.98)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



473LEFT VENTRICULAR NONCOMPACTION 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



474Left ventricular noncompaction 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



475Left ventricular noncompaction 9 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



476Left ventricular noncompaction with congenital heart defects (10.92)
DTNA (18q12)
Dystrobrevin, alpha



477Left ventricular noncompaction, familial isolated (10.92)
DTNA (18q12)
Dystrobrevin, alpha



478Lethal congenital contractural syndrome 3 (12.70)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



479Lethal congenital contracture syndrome 1 (12.68)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



480Lethal congenital contracture syndrome 2 (12.69)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



481Limb girdle muscular dystrophy 1D (autosomal dominant) (1.16, 4.20)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



482Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.17, 10.44, 1.38, 5.12)
DES (2q35)
Desmin



483Limb girdle muscular dystrophy 2J (autosomal recessive) (5.17, 3.25, 4.2, 1.30, 10.42, 10.8, 3.42)
TTN (2q31)
Titin



484Limb girdle muscular dystrophy with ophthalmoplegia (5.18, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



485Limb-Girdle, Muscular dystrophy, type 1G (1.19)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



486Limb-girdle, muscular dystrophy, type 1h (1.20)
? - (3p23-p25)

487Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



488Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



489Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



490Limb-girdle, muscular dystrophy, type 2q (5.18, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



491Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.17, 10.44, 1.38, 5.12)
DES (2q35)
Desmin



492Limb-Girdle, Muscular dystrophy, type 2S (1.39, 2.40)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



493Limb-Girdle, Muscular dystrophy, type 2T (1.40, 2.39, 2.30, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



494Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.90, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



495Limb-Girdle, Muscular dystrophy, type 2W (1.43)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



496Limb-Girdle, Muscular dystrophy, type 2X (1.44)
BVES (6q21)
blood vessel epicardial substance



497Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



498Limb-Girdle, Muscular dystrophy, type 2Z (1.46)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



499Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



500lipodystrophy, congenital generalized, type 4 (1.12)
PTRF (17q21-q23)
Polymerase I and transcript release factor(M)



501Lipodystrophy, familial partial, type 2 (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



502Long QT syndrome 10 (10.130, 10.156)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



503Long QT syndrome 11 (10.131)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



504Long QT syndrome 12 (10.132)
SNTA1 (20q11.21)
Syntrophin, alpha 1



505Long QT syndrome 13 (10.133)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



506Long QT syndrome 14 (10.118, 10.134)
CALM1 (14q32.11)
Calmodulin 1



507Long QT syndrome 15 (10.135)
CALM2 (2p21)
Calmodulin 2



508Long QT syndrome 9 (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



509Long QT syndrome-1 (10.139, 10.121, 7.17, 7.16, 10.143, 10.137)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



510Long QT syndrome-2 (10.122, 7.15, 10.136)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



511Long QT syndrome-3 (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



512Long QT syndrome-4 (10.124)
ANK2 (4q25-q27)
Ankyrin 2



513Long QT syndrome-5 (10.125, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



514Long QT syndrome-6 (7.18, 10.126, 10.140, 10.144)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



515Long QT syndrome-7 (7.14, 10.127, 10.138, 10.149)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



516luma related muscular dystrophy (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



517Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



518Malignant hyperthermia susceptibility 1 (8.1, 3.29, 3.30, 3.41, 3.24, 3.17, 5.29, 3.28)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



519Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

520Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

521Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

522Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.47)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



523Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

524Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



525Marinesco-Sjogren syndrome (13.78)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



526Marssili syndrome (insensitivity to pain, congenital, AD) (14.103)
ZFHX2 (14q11.2)
zinc finger homeobox 2



527MASA syndrome (15.65)
L1CAM (Xq28)
L1 cell adhesion molecule



528McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



529MELAS-like syndrome (16.44)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



530minicore myopathy with external ophthalmoplegia (8.1, 3.29, 3.30, 3.41, 3.24, 3.17, 5.29, 3.28)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



531Mitochondrial dna depletion syndrome, myopathic form (16.33, 13.28, 16.31)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



532Mitochondrial dna depletion syndrome, myopathic form (16.34)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



533Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.31)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



534Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.34)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



535Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.33)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



536Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.30)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



537Mitochondrial myopathy (12.33, 12.66, 16.40)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



538Mitochondrial myopathy (16.36)
SLC25A42 (19p13.11)
solute carrier family 25 member 42(M)



539Mitochondrial myopathy and sideroblastic anemia 1 (16.38)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



540Mitochondrial myopathy with severe neurological manifestations (16.43)
TMEM65 (8q24.13)
Transmembrane Protein 65



541Miyoshi myopathy (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



542Motor neuropathy, distal, with vocal cord paralysis (12.24, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



543Multiminicore disease, classical form (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



544Multiple acyl-coa dehydrogenase deficiency (9.22, 9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



545Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.20)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



546Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.21)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



547Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.22, 9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



548Muscle dystrophy with congenital disorder of glycosylation (2.34)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



549Muscle dystrophy with congenital disorder of glycosylation, type Io (1.47)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



550Muscle hypertrophy (5.19)
MSTN (2q32.2)
Myostatin



551Muscle-eye-brain disease (1.40, 2.39, 2.30, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



552Muscle-eye-brain disease (2.31, 1.29, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



553Muscle-eye-brain disease (2.27, 2.23, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



554Muscle-eye-brain disease (2.21, 2.29, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



555Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



556Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



557Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



558Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



559Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



560Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.31, 1.29, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



561Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 1.41)
ISPD (7p21.2)
Isoprenoid synthase domain containing



562Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



563Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



564Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.32)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



565Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.31, 1.29, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



566Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.59, 1.33)
FKTN (9q31-q33)
Fukutin



567Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.36, 2.35)
DAG1 (3p21)
Dystroglycan1



568Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
? - (19p13)

569Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.10)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



570Muscular dystrophy, congenital merosin-deficient (2.1)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



571Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



572Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



573Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



574Muscular dystrophy, Limb-Girdle, type 1A (1.13, 5.3, 5.4, 4.9)
MYOT (5q31)
Myotilin



575Muscular dystrophy, limb-girdle, type 1B (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



576Muscular dystrophy, Limb-Girdle, Type 1F (1.18)
TNPO3 (7q32.1-q32.2)
Transportin 3



577Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

578Muscular dystrophy, limb-girdle, type 2A (1.21)
CAPN3 (15q15.1-q21.1)
Calpain 3



579Muscular dystrophy, limb-girdle, type 2B (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



580Muscular dystrophy, limb-girdle, type 2C (1.23)
SGCG (13q12)
Gamma sarcoglycan



581Muscular dystrophy, limb-girdle, type 2D (1.24)
SGCA (17q21)
Alpha sarcoglycan



582Muscular dystrophy, limb-girdle, type 2E (1.25)
SGCB (4q12)
Beta sarcoglycan



583Muscular dystrophy, limb-girdle, type 2F (1.26, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



584Muscular dystrophy, limb-girdle, type 2G (1.27, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



585Muscular dystrophy, limb-girdle, type 2H (1.28, 3.45)
TRIM32 (9q33.2)
Tripartite motif-containing 32



586Muscular dystrophy, limb-girdle, type 2I (2.31, 1.29, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



587Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



588Muscular dystrophy, limb-girdle, type 2L (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



589Muscular dystrophy, limb-girdle, type IC (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



590Muscular dystrophy, rigid spine, 1 (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



591Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



592Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



593Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



594Myasthenia, familial infantil, 1 (
595Myasthenic syndrome, acetazolamide-responsive (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



596Myasthenic syndrome, congenital (11.17, 16.23)
RAPSN (11p11.2-p11.1)
Rapsyn



597Myasthenic Syndrome, Congenital, 21, Presynaptic (11.27)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



598Myasthenic syndrome, congenital, 22 (11.28)
PREPL (2p21)
Prolyl endopeptidase-like



599Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.19)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



600Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



601Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



602Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



603Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



604Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.13)
SYT2 (1q32.1)
Synaptotagmin II



605Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



606Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



607Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



608Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



609Myasthenic syndrome, with plectin defect (5.18, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



610Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



611myofibrillar myopathy with bag3 defect (5.7, 10.69, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



612myofibrillar myopathy ZASP-related (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



613Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



614Myofibrillar myopathy, myotilin related (1.13, 5.3, 5.4, 4.9)
MYOT (5q31)
Myotilin



615Myopathy and cerebellar ataxia (13.86)
MSTO1 (1q22)
misato homolog 1 (Drosophila)



616Myopathy due to CPT II deficiency (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



617Myopathy due to phosphoglycerate mutase deficiency (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



618Myopathy microfibrillar type 7 (5.8)
KY (3q22.2)
Kyphoscoliosis peptidase



619Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.36)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



620myopathy with deficiency of succinate dehydrogenase and aconitase (5.28)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



621myopathy with exercise intolerance, swedish type (5.28)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



622Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.36)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



623myopathy with lactic acidosis, hereditary (5.28)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



624Myopathy with nemaline bodies (3.13)
RYR3 (15q13-q14)
Ryanodine receptor 3



625Myopathy, centronuclear, 6 with fiber-type disproportion ()
626Myopathy, Congenital nonprogressive, with Moebius sequence and Robin sequence (3.50)
MYMK (9q34.2)
Myomaker



627Myopathy, congenital, Bailey-Bloh (3.51)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



628Myopathy, congenital, With excess of muscle spindles (3.49)
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



629myopathy, congenital, with fiber-type disproportion (3.14, 3.3, 3.40, 2.45, 10.95)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



630myopathy, congenital, with fiber-type disproportion (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



631myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



632myopathy, congenital, with fiber-type disproportion (8.1, 3.29, 3.30, 3.41, 3.24, 3.17, 5.29, 3.28)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



633Myopathy, Congenital, With Neuropathy And Deafness (3.48)
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



634Myopathy, Congenital, With Neuropathy And Deafness ()
635Myopathy, distal 1 (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



636Myopathy, distal, 4 (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



637Myopathy, distal, with rimmed vacuoles (12.67, 4.19)
SQSTM1 (5q35.3)
Sequestosome 1



638Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.39)
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial(M)



639Myopathy, myofibrillar, 2 (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



640Myopathy, myofibrillar, filamin C-related (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



641Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



642Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



643Myopathy, X-linked, with excessive autophagy (5.14)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



644myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



645Myosin storage myopathy (4.4, 10.1, 3.34, 10.54, 3.35, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



646Myosin, heavy chain, perinatal (16.18)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



647Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.4, 6.5, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



648Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.4, 6.5, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



649Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



650Myotonia recessive (7.1, 6.4, 6.5, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



651Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



652Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



653Myotubular myopathy, X-linked (3.20)
MTM1 (Xq28)
Myotubularin



654Myxomatous valvular dystrophy, X-ninked (10.102)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



655naxos disease (10.120, 10.113)
JUP (17q21)
Junction plakoglobin



656Nemaline myopathy (3.7)
CFL2 (14q12)
Cofilin 2 (muscle)



657Nemaline myopathy (3.9)
KLHL41 (2q31.1)
Kelch-like family member 41



658Nemaline myopathy (3.10)
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



659Nemaline myopathy (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



660Nemaline myopathy 1, autosomal dominant (3.1, 3.16, 3.39)
TPM3 (1q21.2)
Tropomyosin 3



661Nemaline myopathy 2, autosomal recessive (3.2, 4.10)
NEB (2q22)
Nebulin



662Nemaline myopathy 3 (3.14, 3.3, 3.40, 2.45, 10.95)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



663Nemaline myopathy 4 (3.4, 3.38, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



664Nemaline myopathy 5 (3.5)
TNNT1 (19q13.4)
Slow troponin T



665Nemaline myopathy 6 (3.6)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



666Nemaline Myopathy with Cardiomyopathy (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



667Nesprin-2 related muscular dystrophy (1.7)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



668Neurodegeneration with brain iron accumulation 4 (15.38)
C19orf12 (19q12)
chromosome 19 open reading frame 12(M)



669Neuronopathy, distal hereditary motor, type I (12.14)
? - (7q34-q36)

670neuronopathy, distal hereditary motor, type IIC (12.17)
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



671Neuronopathy, distal hereditary motor, type IX (12.23)
WARS (14q32.2)
tryptophanyl-tRNA synthetase



672Neuronopathy, distal hereditary motor, type V (15.9, 12.20)
BSCL2 (11q12-q13.5)
Seipin



673Neuronopathy, distal hereditary motor, type VIIB (12.25, 12.64)
DCTN1 (2p13)
Dynactin 1



674Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.35, 16.42)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



675Neuropathy, congenital hypomyelinating (14.2, 14.39, 14.50, 14.51, 14.26, 14.15)
MPZ (1q22)
Myelin protein zero



676Neuropathy, congenital hypomyelinating (14.4, 14.25, 14.40)
EGR2 (10q21.1)
Early growth response 2 protein



677Neuropathy, distal hereditary motor type V (14.46, 12.19)
GARS (7p15)
Glycyl-tRNA synthetase



678Neuropathy, distal hereditary motor, type II (14.53, 12.15)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



679Neuropathy, distal hereditary motor, type IIB (14.48, 12.16)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



680Neuropathy, distal hereditary motor, with pyramidal features (12.41, 13.52)
SETX (9q34.13)
Senataxin



681Neuropathy, hereditary motor and sensory, lom type (14.24, )
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



682Neuropathy, hereditary motor and sensory, Okinawa type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



683Neuropathy, hereditary motor and sensory, type VIB (12.73)
SLC25A46 (5q22.1)



684neuropathy, hereditary sensory and autonomic type v (14.93)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



685Neuropathy, hereditary sensory and autonomic, type 1 (14.85)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



686Neuropathy, hereditary sensory and autonomic, type IC (14.87)
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



687neuropathy, hereditary sensory and autonomic, type iia (14.88)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



688Neuropathy, hereditary sensory and autonomic, type IID (14.90)
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9



689Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.91)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



690Neuropathy, hereditary sensory and autonomic, type VII (14.95)
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11



691Neuropathy, hereditary sensory, type 1 (14.85)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



692Neuropathy, hereditary sensory, type 1E (14.98)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



693Neuropathy, hereditary sensory, type ID (15.1, 14.97)
ATL1 (14q22.1)
Atlastin GTPase 1



694Neuropathy, hereditary sensory, type IIC (15.34, 14.100)
KIF1A (2q37.3)
Kinesin family member 1A



695Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.111)
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5



696Neuropathy, recurrent, with pressure palsies (14.1, 14.38, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



697Neutral lipid storage disease without ichthyosis (9.26)
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



698Nonaka myopathy (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



699Noncompaction of left ventricular myocardium, isolated (10.75, 10.91)
TAZ (Xq28)
Tafazzin



700Oculopharyngeal muscular dystorphy (5.16)
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



701Olivopontocerebellar atrophy I (13.1)
ATXN1 (6p22.3)
Ataxin 1



702Olivopontocerebellar atrophy II (13.2, 12.50)
ATXN2 (12q24.12)
Ataxin 2



703Olivopontocerebellar atrophy III (13.7)
ATXN7 (3p14)
Ataxin 7



704Paramyotonia congenita of Von Eulenburg (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



705patient with HCM and isolated respiratory complex I deficiency (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



706Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (7.14, 10.127, 10.138, 10.149)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



707Peripheral neuropathy and deafness, autosomal dominant (14.105)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



708Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (16.41)
FAM111B (11q12.1)
family with sequence similarity 111 member B



709Polyglucosan Body Myopathy 2 (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



710Polyglucosan storage myopathy (9.11)
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



711Pontocerebellar hypoplasia type 1 (12.72, 14.110)
VRK1 (14q32)
Vaccinia related kinase 1



712posphoglycerate kinase deficiency (9.13)
PGK1 (Xq13)
Phosphoglycerate kinase 1



713Potassium-aggravated myotonia (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



714Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.36)
UNC13B (9p13.3)
unc-13 homolog B (C. elegans)



715Presynaptic congenital myasthenic syndrome (15.69, 11.34)
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



716Presynaptic congenital myasthenic syndrome (11.35)
LAMA5 (20q13.33)
Laminin, Alpha 5



717Primary lateral sclerosis, juvenile (12.39, 15.64)
ALS2 (2q33.2)
Alsin



718Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.24, 16.37, 13.79, 16.29)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



719Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.50, 16.26)
C10orf2 (10q24.31)
chromosome 10 open reading frame 2(M)



720Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.35, 16.28)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



721Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.25)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



722Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.24, 16.37, 13.79, 16.29)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



723Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.30)
RNASEH1 (2p25.3)
Ribonuclease H1(M)



724Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.33, 13.28, 16.31)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



725Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.32)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



726Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de (16.37)
OPA1 (3q28-q29)
optic atrophy 1(M)



727progressive external ophthalmoplegia, autosomal dominant, 4 (16.27)
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit(M)



728Progressive familial heart block, type I (10.123, 7.7, 10.41, 10.158, 10.168)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



729Proximal myotonic myopathy (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



730Reccurrent myoglobinuria, autosomal recessive (9.28)
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



731Recessive congenital myopathy with minicores (3.33, 3.32)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



732Recessive neonatal isolated DC (10.68)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



733Refsum disease, adult (13.83)
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



734Refsum disease, adult (13.84)
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



735Restrictive cardiomyopathy, 2 (10.86)
? - (10)

736restrictive dermopathy (1.4, 1.14, 1.5, 10.37, 2.17, 14.70)
LMNA (1q22)
Lamin A/C



737Rigid spine syndrome (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



738Rigid spine syndrome (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



739Rigid spine syndrome related to FHL1 (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



740Rigid spine syndrome related to SEPN1 (2.13, 5.10, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



741Rippling muscle disease (1.15, 6.3, 5.21, 6.6, 4.11, 10.129, 10.16)
CAV3 (3p25)
Caveolin 3



742Rippling muscle disease ()
? - (1q41)

743Romano-Ward syndrome (10.139, 10.121, 7.17, 7.16, 10.143, 10.137)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



744Sarcotubular myopathy (1.28, 3.45)
TRIM32 (9q33.2)
Tripartite motif-containing 32



745Scapuloperoneal muscular dystrophy and dropped head syndrome (5.26, 4.17, 12.51, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



746Scapuloperoneal myopathy, X-linked dominant (1.3, 5.22, 5.23, 5.24)
FHL1 (Xq26.3)
Four and a half LIM domain 1



747Scapuloperoneal spinal muscular atrophy (12.27, 12.28, 14.45)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



748Schwartz-Jampel syndrome, type 1 (6.7)
HSPG2 (1p36.1-p34)
Perlecan



749Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.24, 16.37, 13.79, 16.29)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



750Severe autosomal-recessive nemaline myopathy (3.8)
KLHL40 (2p22.1)
Kelch-like family member 40



751Short qt syndrome 1 (10.122, 7.15, 10.136)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



752Sick Sinus Syndrome 1, autosomal recessive (10.123, 7.7, 10.41, 10.158, 10.168)