Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.111)
CLTCL1 (22q11.21)
Clathrin, heavy polypeptide-like 1



2ACAD9-deficient mild myopathy (9.25)
ACAD9 (3q21.3)
Acyl-CoA dehydrogenase family member 9(M)



3Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.50, 7.10, 13.45)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



4Acyl-CoA dehydrogenase (very long chain) deficiency (9.24)
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)



5Adolescent onset distal myopathy (4.20)
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



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

7Agenesis of the corpus callosum with peripheral neuropathy (14.116)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



8Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



9Amyotrophic lateral sclerosis (12.46)
? - (18q21)

10Amyotrophic lateral sclerosis (12.51, 12.35)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



11Amyotrophic lateral sclerosis (12.50)
? - (20p13)

12Amyotrophic lateral sclerosis (12.49)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



13Amyotrophic lateral sclerosis 1 (12.43, 12.44)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.53)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.32, 12.54)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.55)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.56)
ATXN2 (12q24.12)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.29, 4.19, 12.57, 1.57, 14.65)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.58)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.59)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.60)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.61)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 19 (12.62)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



24Amyotrophic lateral sclerosis 20 (3.38, 12.63)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



25Amyotrophic lateral sclerosis 22 (12.65)
TUBA4A (2q35)
Tubulin, Alpha-4A



26Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.71, 12.68)
KIF5A (12q13.13)
Kinesin family member 5A



27Amyotrophic lateral sclerosis 5 (15.26, 12.48, 14.88)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



28amyotrophic lateral sclerosis 9 (12.52)
ANG (14q11.2)
Angiogenin



29Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.36, 12.73, 16.62)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.72)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



31Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74, 4.21, 4.8)
SQSTM1 (5q35.3)
Sequestosome 1



32Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.75)
TBK1 (12q14.2)
Tank-binding kinase 1



33Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.43, 12.44)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



34Amyotrophic lateral sclerosis, juvenile (12.45, 15.69)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



35Amyotrophic lateral sclerosis, susceptibility to, 24 (12.67)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



36Amytrophic lateral sclerosis 23 (12.66)
ANXA11 (10q23.3)
Annexin A11



37Andermann syndrome (14.116)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



38Arrhythmogenic right ventricular cardiomyopathy 2 (10.105, 10.116)
RYR2 (1q43)
Ryanodine receptor 2



39Arrhythmogenic right ventricular cardiomyopathy 3 (10.106)
? - (14q12-q22)

40Arrhythmogenic right ventricular cardiomyopathy 4 (10.107)
? - (2q32.1-q32.3)

41Arrhythmogenic right ventricular cardiomyopathy 6 (10.109, 3.47)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



42Arrhythmogenic right ventricular dysplasia 2 (10.105, 10.116)
RYR2 (1q43)
Ryanodine receptor 2



43Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



44Arrhythmogenic right ventricular dysplasia-3 (10.106)
? - (14q12-q22)

45Arrhythmogenic right ventricular dysplasia, 1 (10.104)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



46Arrhythmogenic right ventricular dysplasia, 10 (10.112, 10.63)
DSG2 (18q12.1)
Desmoglein 2



47Arrhythmogenic right ventricular dysplasia, 11 (10.113)
DSC2 (18q12.1)
Desmocollin 2



48Arrhythmogenic right ventricular dysplasia, 8 (10.110)
DSP (6p24.3)
Desmoplakin



49Arrhythmogenic right ventricular dysplasia, 9 (10.111)
PKP2 (12p11.21)
Plakophilin 2



50Arrhythmogenic right ventricular dysplasia, familial, 1 (10.104)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



51arrhythmogenic right ventricular dysplasia, familial, 12 (10.121, 10.114)
JUP (17q21.2)
Junction plakoglobin



52Arrhythmogenic right ventricular dysplasia, familial, 13 (10.115)
CTNNA3 (10q21.3)
Catenin alpha 3



53Arrhythmogenic right ventricular dysplasia, familial, 4 (10.107)
? - (2q32.1-q32.3)

54arrhythmogenic right ventricular dysplasia, familial, 5 (10.108, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



55Arrhythmogenic right ventricular dysplasia, familial, 6 (10.109, 3.47)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



56arrhythmogenic right ventricular dysplasia, familial, 7 (
? - (10q22)

57Arthrogryposis and BICD2-related neuromuscular disease (12.33, 12.34, 16.22)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



58Arthrogryposis and muscular dysplasia (16.23)
MET (7q31.2)
MET protooncogene



59Arthrogryposis multiplex congenita with nesprin-1 defect (1.6, 13.61, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



60Arthrogryposis related to ASCC1 (12.12, 16.24)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



61Arthrogryposis, distal, type 1B (16.10, 12.79)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



62Arthrogryposis, distal, type 3 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



63Arthrogryposis, distal, type 5 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



64Arthrogryposis, distal, type 10 (16.20)
? - (2q31.3-q32.1 )

65Arthrogryposis, distal, type 1A (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



66Arthrogryposis, distal, type 2A (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



67arthrogryposis, distal, type 2B (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



68Arthrogryposis, distal, type 2B (16.12)
TNNI2 (11p15.5)
Troponin I, type 2



69Arthrogryposis, distal, type 2B (16.13)
TNNT3 (11p15.5)
Troponin T3, skeletal



70Arthrogryposis, distal, type 2B (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



71Arthrogryposis, distal, type 5D (16.18)
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1



72Asymmetric septal hypertrophy (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



73ataxia telangiectasia (13.87)
ATM (11q22.3)
Ataxia telangiectasia mutated



74ataxia telangiectasia-like disorder (13.88)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



75Ataxia telangiectasia-like disorder 2 (13.89)
PCNA (20p12.3)
Proloferating cell nuclear antigen



76Ataxia with isolated vitamin E deficiency (13.53)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



77Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.55)
APTX (9p13.3)
Aprataxin



78Ataxia, Friedreich-like, with selective vitamin E deficiency (13.53)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



79Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.110)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



80ataxia, spastic, 1, autosomal dominant (15.76, 11.31)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)



81ataxia, spastic, 2, autosomal recessive (15.77)
KIF1C (17p13.2)
kinesin family member 1C



82ATFB18 (10.163)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



83atrial fibillation, familial, 8 (10.152)
? - (16q22)

84Atrial fibrillation , 12 (10.50, 10.157)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



85Atrial fibrillation, 1 (10.145)
? - (10q22-q24)

86Atrial fibrillation, 10 (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



87Atrial fibrillation, 13 (10.168, 10.158)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



88Atrial fibrillation, 14 (10.159)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



89Atrial fibrillation, 15 (10.160)
NUP155 (5p13.2)
Nucleoporin 155 kDa



90Atrial fibrillation, 16 (10.170, 10.161)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



91Atrial fibrillation, 17 (10.133, 10.162)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



92Atrial fibrillation, 2 (10.146)
? - (10q22-q24)

93Atrial fibrillation, 3 (10.143, 10.124, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



94Atrial fibrillation, 4 (10.129, 10.148)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



95Atrial fibrillation, 9 (10.130, 10.142, 10.153)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



96atrial fibrillation, familial (10.151)
KCNA5 (12p13.32)
Potassium voltage-gated channel, shaker-related subfamily, member 5



97atrial fibrillation, familial, 1 (10.155, 10.156)
GJA5 (1q21.1)
Connexin 40



98atrial fibrillation, familial, 5 (10.149)
? - (4q25)

99atrial fibrillation, familial, 6 (10.150)
NPPA (1p36.22)
Natriuretic peptide precursor A



100Autophagic vacuolar myopathy (5.17)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



101Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



102Autosomal recessive CMT axonal type 2S (12.5, 14.86)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



103Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.79)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



104Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.90, 14.92)
SACS (13q12)
Sacsin



105autosomal recessive spastic ataxia with leukoencephalopathy (15.78)
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)



106Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.62, 16.73)
ADCK3 (1q42.13)
Coenzyme Q8A



107Axonal neuropathy intermediate recessive C (12.8, 14.83)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



108Axonal neuropathy recessive (14.82)
KARS (16q23.1)
Lysyl-tRNA synthetase



109Axonal neuropathy with myotonia (14.80, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



110Barth syndrome (10.80, 10.91)
TAZ (Xq28)
Tafazzin



111Becker muscular distrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



112Bethlem myopathy (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



113Bethlem myopathy (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



114Bethlem myopathy (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



115Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



116Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



117Brown-Vialetto-Van Laere syndrome 1 (12.91)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



118Brown-Vialetto-Van Laere syndrome 2 (12.92)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



119Brugada syndrome (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



120Brugada syndrome (10.173)
TMEM168 (7q31.1 )
Transmembrane protein 168



121brugada syndrome 2 (10.165)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



122brugada syndrome 3 (10.131, 10.166)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



123brugada syndrome 4 (10.167)
CACNB2 (10p12.33-p12.31 )
Calcium channel, voltage-dependent, beta 2 subunit



124Brugada syndrome 5 (10.168, 10.158)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



125Brugada syndrome 6 (7.11, 10.169)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



126Brugada syndrome 7 (10.170, 10.161)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



127Brugada syndrome 8 (10.174, 10.171)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



128Brugada syndrome 9 (13.17, 10.172)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



129Cap myopathy, TPM2-related, included (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



130Cardiac and skeletal aggregate myopathy (5.13)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



131Cardiac and skeletal aggregate myopathy (5.13)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



132Cardiac conduction defect, progressive (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



133cardiac valvular dysplasia, x-linked (10.103)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



134Cardimyopathy, dilated, 1A (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



135Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.91)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



136Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



137cardiomyopathy, dilated 1C (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



138Cardiomyopathy, dilated, 1A (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



139Cardiomyopathy, dilated, 1CC (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



140Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



141Cardiomyopathy, dilated, 1DD (10.65)
RBM20 (10q25.3)
RNA binding motif protein 20



142Cardiomyopathy, dilated, 1E (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



143Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



144Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



145Cardiomyopathy, dilated, 1G (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



146Cardiomyopathy, dilated, 1GG (10.68)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



147Cardiomyopathy, dilated, 1H (10.43)
? - (2q14-q22)

148Cardiomyopathy, dilated, 1J (10.45)
EYA4 (6q23-24)
Eyes absent 4



149Cardiomyopathy, dilated, 1K (10.46)
? - (6q12-q16)

150Cardiomyopathy, dilated, 1M (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



151Cardiomyopathy, dilated, 1O (10.50, 10.157)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



152Cardiomyopathy, dilated, 1P (10.51, 10.19)
PLN (6q22.1)
Phospholamban



153Cardiomyopathy, dilated, 1Q (10.52)
? - (7q22.3-q31.1)

154Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



155Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96, 3.62)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



156Cardiomyopathy, dilated, 1T (10.55)
TMPO (12q22)
Lamina-associated polypeptide 2



157Cardiomyopathy, dilated, 1U (10.56)
PSEN1 (14q24.2)
Presenilin 1



158Cardiomyopathy, dilated, 1W (10.57)
PSEN2 (1q42.13)
Presenilin 2



159Cardiomyopathy, dilated, 1W (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



160Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



161Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



162Cardiomyopathy, dilated, 1Z (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



163Cardiomyopathy, dilated, 2B (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



164Cardiomyopathy, Dilated, 3B (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



165Cardiomyopathy, dilated, X-linked (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



166Cardiomyopathy, familial dilated, 1 (10.38)
? - (9q13)

167cardiomyopathy, familial hypertrophic (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



168cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



169Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



170Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



171Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



172Cardiomyopathy, familial hypertrophic 27 (10.28)
ALPK3 (15q25.3)
Alpha kinase 3



173cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96, 3.62)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



174Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



175Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



176Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



177Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



178Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



179Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



180Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19)
PLN (6q22.1)
Phospholamban



181Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



182Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.18, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



183Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



184Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



185Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



186Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



187Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



188Cardiomyopathy, hypertrophic, 10 (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



189Cardiomyopathy, X-linked dilated (10.80, 10.91)
TAZ (Xq28)
Tafazzin



190Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.51)
MYMK (9q34.2)
Myomaker



191Carnitine deficiency, systemic primary (9.19)
SLC22A5 (5q31)
Solute carrier family 22 member 5



192Carnitine-acylcarnitine translocase deficiency (9.20)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



193Central core disease (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



194Centronuclear myopathy 2 (3.23)
BIN1 (2q14)
Amphiphysin



195Centronuclear myopathy 4 (3.27)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



196Centronuclear myopathy 6 with fiber-type disproportion (3.20)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



197Centronuclear myopathy related to TTN (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



198Centronuclear myopathy with dilated cardiomyopathy (3.26)
SPEG (2q35)
SPEG complex locus



199centronuclear myopathy, recessive (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



200Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.93)
RNF216 (7p22.1)
Ring finger protein 216



201Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

202Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.50, 7.10, 13.45)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



203Cerebellar ataxia, pure (7.9, 13.6, 13.50, 7.10, 13.45)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



204Chanarin-Dorfman syndrome (9.26)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



205Charcot-Marie Tooth disease (14.34)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



206Charcot-Marie Tooth disease related to CNTNAP1 (12.82, 14.35)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



207Charcot-Marie Tooth disease, demyelinating type 1G (14.8)
PMP2 (8q21.13)
peripheral myelin protein-2



208Charcot-Marie Tooth disease, intermediate (14.20)
C1orf194 (1p21.2-p13.3)
Chromosome 1 open reading frame 194



209Charcot-Marie-Tooth 2 (14.62)
MARS (12q13.3)
Methionyl-tRNA synthetase



210Charcot-Marie-Tooth disease with deafness and mental retardation (14.39, 16.64)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



211Charcot-Marie-Tooth disease, axonal (14.90)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



212Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.73)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



213Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.74)
JAG1 (20p12.2)
Jagged 1



214Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.91)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



215Charcot-Marie-Tooth disease, axonal, type 20 (14.59, 12.32)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



216Charcot-Marie-Tooth disease, axonal, type 2A2B (14.47, 14.75, 14.70)
MFN2 (1p36.22)
Mitofusin 2(M)



217Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



218Charcot-Marie-Tooth disease, axonal, type 2CC (12.69, 14.67)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



219Charcot-Marie-Tooth disease, axonal, type 2D (14.50, 12.21)
GARS (7p15)
Glycyl-tRNA synthetase



220Charcot-Marie-Tooth disease, axonal, type 2DD (14.68)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



221Charcot-Marie-Tooth disease, axonal, type 2EE (14.78)
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein(M)



222Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.58)
AARS (16q22.1)
Alanyl-tRNA synthetase



223Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.90, 14.92)
SACS (13q12)
Sacsin



224Charcot-Marie-Tooth disease, congenital, vertical talus (14.9)
HOXD10 (2q31.1)
Homeobox D10



225Charcot-Marie-Tooth disease, dominant intermediate B (3.22, 2.15, 4.16, 14.14, 12.80)
DNM2 (19p13.2)
Dynamin 2



226Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



227Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



228Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.21, 14.56, 14.81)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



229Charcot-Marie-Tooth disease, recessive intermediate, A (14.21, 14.56, 14.81)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



230Charcot-Marie-Tooth disease, type 1A (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



231Charcot-Marie-Tooth disease, type 1B (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



232Charcot-Marie-Tooth disease, type 1D (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



233Charcot-Marie-Tooth disease, type 1E (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



234Charcot-Marie-Tooth disease, type 1F (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



235Charcot-Marie-Tooth disease, type 2A1 (14.46)
KIF1B (1p36.2)
Kinesin family member 1B(M)



236Charcot-Marie-Tooth disease, type 2B2 (14.77, 14.89)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



237Charcot-Marie-Tooth disease, type 2E (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



238Charcot-Marie-Tooth disease, type 2I (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



239Charcot-Marie-Tooth disease, type 2J (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



240Charcot-Marie-Tooth disease, type 2K (14.21, 14.56, 14.81)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



241Charcot-Marie-Tooth disease, type 4A (14.21, 14.56, 14.81)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



242Charcot-Marie-Tooth disease, type 4B1 (14.22)
MTMR2 (11q22)
Myotubularin-related protein 2



243charcot-marie-tooth disease, type 4b2 (14.23)
SBF2 (11p15.4)
SET binding factor 2



244Charcot-Marie-Tooth disease, type 4D (14.26)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



245Charcot-Marie-Tooth disease, type 4F (14.29, 14.45)
PRX (19q13)
Periaxin



246charcot-marie-tooth disease, type 4j (14.32, 12.54)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



247Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.39, 16.64)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



248charcot-marie-tooth disease, x-linked recessive, 2 (14.37)
? - (Xp22.2)

249charcot-marie-tooth disease, x-linked recessive, 3 (14.38)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



250charcot-marie-tooth disease, x-linked recessive, 5 (14.40)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



251Charcot-Marie-Tooth neuropathy (14.12)
ITPR3 (6q21.31)
Inositol 1,4,5-triphosphate receptor, type 3



252Charcot-Marie-Tooth neuropathy Type 2B (14.48)
RAB7A (3q21)
RAB7, member RAS oncogene family



253Charcot-Marie-Tooth neuropathy Type 2F (14.52, 12.18)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



254Charcot-Marie-Tooth neuropathy Type 2H (14.53)
? - (8q21.3)

255Charcot-Marie-Tooth neuropathy Type 2L (14.57, 12.17, 4.24, 4.26)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



256Charcot-Marie-Tooth neuropathy Type 2P (14.60)
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



257Charcot-Marie-Tooth neuropathy Type 2Q (14.61)
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1



258Charcot-Marie-Tooth neuropathy Type 2R (14.85)
TRIM2 (4q31.3)
Tripartite motif containing 2



259Charcot-Marie-Tooth neuropathy Type 2T (14.87, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



260Charcot-Marie-Tooth neuropathy Type 2V (14.63)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



261Charcot-Marie-Tooth neuropathy Type 2W (14.64)
HARS (5q31.3)
Histidyl-tRNA synthetase



262Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.48, 14.88)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



263Charcot-Marie-Tooth neuropathy Type 2Y (5.29, 4.19, 12.57, 1.57, 14.65)
VCP (9p13-p12)
Valosin-containing protein



264Charcot-Marie-Tooth neuropathy Type 2Z (14.66)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



265Charcot-Marie-Tooth neuropathy Type 4B3 (14.24)
SBF1 (22q13.33)
SET binding factor 1



266Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



267Charcot-Marie-Tooth neuropathy Type 4F (14.25)
SH3TC2 (5q32)
KIAA1985 protein



268Charcot-Marie-Tooth neuropathy Type 4G (14.30)
HK1 (10q22.1)
Hexokinase 1(M)



269Charcot-Marie-Tooth neuropathy Type 4H (14.31)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



270Charcot-Marie-Tooth neuropathy Type 4K (14.33)
SURF1 (9q34.2)
Surfeit 1(M)



271Charcot-Marie-Tooth neuropathy Type F (14.18)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



272Charcot-Marie-Tooth neuropathy with glomerulopathy (14.17)
INF2 (14q32-33)
Inverted formin 2



273Charcot-Marie-Tooth neuropathy X-linked 6 (14.41)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



274charcot-marie-tooth neuropathy, dominant intermediate A (14.13)
? - (10q24.1-q25.1)

275Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.15)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



276Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



277Charcot-Marie-Tooth neuropathy, X-linked (14.36, 14.44)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



278Charlevoix disease (14.116)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



279CMT recessive intermediate D (14.84)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



280CMT2 related to KIF5A (15.6, 14.71, 12.68)
KIF5A (12q13.13)
Kinesin family member 5A



281Coenzyme Q10 deficiency 1 (16.72)
COQ2 (4q21.23)
Coenzyme Q2(M)



282Coenzyme Q10 deficiency 5 (16.74)
COQ9 (16q21)
Coenzyme Q9(M)



283Coenzyme Q10 deficiency 6 (16.75)
COQ6 (14q24.3)
Coenzyme Q6(M)



284Coenzyme Q10 deficiency 7 (16.76)
COQ4 (9q34.11)
Coenzyme Q4(M)



285Coenzyme Q10 deficiency 8 (16.77)
COQ7 (16p12.3)
Coenzyme Q7(M)



286COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



287Combined Oxidative phosphorylation Deficiency 6 (14.39, 16.64)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



288Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.89, 14.122, 12.10)
VRK1 (14q32)
Vaccinia related kinase 1



289Congenital amyotrophy (3.56)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



290congenital cataracts, facial dysmorphism, and neuropathy (14.121)
CTDP1 (18q23)
CTD phosphatase subunit 1



291Congenital disorder of glycosylation type 1 (2.36)
MPDU1 (17p13.1)
Mannose-P-dolichol utilization defect 1



292Congenital multi-minicore myopathy (3.57)
FXR1 (3q26.33)
FMR1 autosomal homolog



293Congenital muscle dystrophy with joint hyperlaxity (2.45)
? - (3p23-21)

294Congenital muscle dystrophy with mitochondrial structural abnormalities (2.46)
CHKB (22q13)
Choline kinase beta



295Congenital muscular dystrophy (2.47)
? - (1q42)

296Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



297Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



298Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.42, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



299Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.35)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



300Congenital muscular dystrophy with hypoglycosylation of dystroglycan (
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



301Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.44)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



302Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.41, 1.61)
POMK (8p11.21)
Protein-O-mannose kinase



303Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39)
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)



304Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.40, 2.38)
DAG1 (3p21)
Dystroglycan1



305Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.40)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



306Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



307Congenital muscular dystrophy with merosin deficiency (2.47)
? - (1q42)

308Congenital muscular dystrophy with rigid spine related to ACTA1 (3.14, 3.3, 3.41, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



309Congenital musuclar dystrophy with telethonin defect (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



310Congenital myasthenic syndrome (11.23)
LRP4 (11p11.2)
LDL receptor related protein 4



311Congenital myasthenic syndrome related to ALG14 (11.21)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



312Congenital myasthenic syndrome related to ALG2 (11.20)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



313Congenital Myasthenic syndrome related to GMPPB (1.43, 2.42, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



314Congenital myasthenic syndrome related to MuSK (11.15, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



315Congenital myasthenic syndrome related to RPH3A (11.38)
RPH3A (12q23.3)
Rabphilin 3A



316Congenital myasthenic syndrome type 19 (11.25)
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain



317Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



318Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.11)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



319Congenital myasthenic syndrome with episodic apnea (12.26, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



320Congenital myasthenic syndrome with intellectual disability and ataxia (11.24)
SNAP25 (20p12.2)
Synaptosome associated protein 25



321Congenital myopathy Compton-North (3.45)
CNTN1 (12q11-q12)
Contactin-1



322Congenital Myopathy related to PAX7 (3.58)
PAX7 (1p36.13)
Paired Box gene 7



323Congenital myopathy related to PTPLA (10.109, 3.47)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



324Congenital Myopathy related to PYROXD1 (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



325Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



326Congenital Myopathy related to TNPO3 (1.14, 3.61)
TNPO3 (7q32.1-q32.2)
Transportin 3



327Congenital myopathy with fatal cardiomyopathy (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



328Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



329congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



330CPT deficiency, hepatic, type II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



331CPVT5 (10.120)
TRDN (6q22.31)
Triadin



332CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



333CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



334Creatine phosphokinase, elevated serum (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



335Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



336Danon disease (5.15)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



337Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45)
EYA4 (6q23-24)
Eyes absent 4



338Dejerine-Sottas neuropathy, autosomal recessive (14.29, 14.45)
PRX (19q13)
Periaxin



339Dejerine-Sottas syndrome (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



340Dejerine-Sottas syndrome (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



341Dejerine-Sottas Syndrome (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



342Desmin-related myopathy (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



343Desmin-related myopathy with Mallory bodies (2.13, 5.12, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



344Dilated cardiomyopathy realted to GATAD1 (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



345Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



346Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.73)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



347Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



348Dilated Cardiomyopathy related to DOLK (10.84)
DOLK (9q34.13)
Dolichol kinase



349Dilated cardiomyopathy related to integrin-linked kinase (10.76)
ILK (11p15.5-p15.4)
Integrin-linked kinase



350Dilated cardiomyopathy related to laminin-alpha4 (10.71)
LAMA4 (6q21)
Laminin alpha 4



351Dilated cardiomyopathy related to MURC (10.83)
MURC (9q31.1)
Muscle-related coiled-coil protein



352Dilated cardiomyopathy related to MYBPC3 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



353Dilated cardiomyopathy related to nesprin-1 (1.6, 13.61, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



354Dilated cardiomyopathy related to PRDM16 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



355Dilated cardiomyopathy related to RAF1 (10.75)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



356dilated cardiomyopathy, 1aa (10.62, 10.24, 3.54, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



357Dilated cardiomyopathy, 1F (
? - (6q23)

358Dilated cardiomyopathy, 1I (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



359Dilated Cardiomyopathy, 1L (1.30, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



360Dilated cardiomyopathy, 1N (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



361Dilated cardiomyopathy, related to DSG2 (10.112, 10.63)
DSG2 (18q12.1)
Desmoglein 2



362Distal hereditary motor neuronopathy (14.80, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



363Distal hereditary motor neuropathies (12.39)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



364Distal motor neuropathy (12.38)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



365Distal motor neuropathy related to SYT2 (11.13, 12.37)
SYT2 (1q32.1)
Synaptotagmin II



366Distal myopathy related to caveolin (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



367Distal myopathy with nebulin defect (3.2, 4.11, 4.12)
NEB (2q22)
Nebulin



368Distal Spinal Muscular Atrophy with Calf Predominance (12.20)
FBXO38 (5q32)
F-box protein 38



369Distal spinal muscular atrophy, type VB (15.12, 12.23)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



370Dominant distal hereditary motor neuropathy (12.24, 14.58)
AARS (16q22.1)
Alanyl-tRNA synthetase



371Duchenne muscular dystrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



372Dusty core disease related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



373Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.69)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)



374Dysmyelinating leukodystrophy (15.40)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



375Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



376Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



377Early onset axonal neuropathy with sensory ataxia (14.72)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



378Early onset distal myopathy with KLHL9 mutations (4.17)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



379Early onset myopathy, areflexia, respiratory distress and dysphagia (3.34, 3.33)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



380Early onset of mitochondrial myopathy (16.71)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)



381Early-onset axonal Charcot-Marie-Tooth with ataxia (14.77, 14.89)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



382Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



383Emery-Dreifuss Autosomal recessive (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



384Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



385Emery-dreifuss muscular dystrophy 4 (1.6, 13.61, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



386Emery-dreifuss muscular dystrophy 6 (1.3, 5.25, 5.26, 5.27)
FHL1 (Xq26.3)
Four and a half LIM domain 1



387Emery-dreifuss muscular dystrophy 7 (10.108, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



388Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



389Endocardial fibroelastosis-2 (10.80, 10.91)
TAZ (Xq28)
Tafazzin



390Enolase deficiency (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



391Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.21, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



392episodic ataxia type 5, included (13.47)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



393episodic ataxia type 6 (13.48)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



394episodic ataxia type-3 (13.46)
? - (1q42)

395episodic ataxia type-7 (13.49)
? - (19q13)

396Episodic ataxia with myokymia (7.12)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



397Episodic ataxia, type 2 (7.9, 13.6, 13.50, 7.10, 13.45)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



398episodic muscle weakness, x-linked (5.28)
? - (Xp22.3)

399Episodic pain syndrome, familial 3 (14.104, 14.114)
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



400Erythrocyte lactate transporter defect (9.17)
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



401Erythromelalgia, Primary (14.99, 14.113)
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



402Escobar syndrome (multiple pterygium syndrome) (11.33)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



403Exertional myoglobinuria due to deficiency of LDH-A (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



404Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



405Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



406Familial amyotrophic lateral sclerosis (4.5, 12.64)
MATR3 (5q31)
Matrin 3



407Familial brachial plexus neuropathy (14.118)
SEPT9 (17q25)
Septin 9



408Familial dysautonomia (Riley-Day syndrome) (16.3, 14.100)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



409Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



410Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



411Familial 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)



412Familial limb girdle myasthenia related to agrin (11.14, 16.31)
AGRN (1p36.33)
Agrin



413Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



414Familial limb-girdle myasthenia related to DOK7 (11.16, 16.27)
DOK7 (4p16.2)
Docking protein 7



415familial sinusal bradycardia (10.174, 10.171)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



416Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



417Fatty aldehyde dehydrogenase (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



418Fetal akinesia deformation related to AGRN (11.14, 16.31)
AGRN (1p36.33)
Agrin



419Fetal akinesia deformation sequance with MUSK defect (11.15, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



420Fetal akinesia deformation sequence 2 (11.17, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



421Fetal akinesia deformation sequence 3 (11.16, 16.27)
DOK7 (4p16.2)
Docking protein 7



422Fetal akinesia deformation sequence 4 (16.29)
NUP88 (17p13.2)
Nucleoporin 88kD



423Fetal akinesia deformation sequence related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



424Fibrodysplasia ossificans progressiva (5.23)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



425Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



426Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



427Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24.3)
Tubulin, beta 3



428Fibrosis of extraocular muscles, congenital, 5 (16.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



429Friedreich ataxia (13.51)
FXN (9q13-q21.1)
Frataxin(M)



430friedreich ataxia 2 (13.52)
? - (9p23-p11)

431Friedreich ataxia with retained reflexes (13.51)
FXN (9q13-q21.1)
Frataxin(M)



432fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



433Galloway-Mowat syndrome 1 (13.58)
WDR73 (15q24-q26)
WD Repeat-Containing Protein 73



434Giant axonal neuropathy 2 (14.120)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



435Giant axonal neuropathy-1 (14.119)
GAN1 (16q23.2)
Gigaxonin



436Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



437Glycogen storage disease II (9.1, 10.90, 1.54)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



438Glycogen storage disease IIb (5.15)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



439glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



440glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



441Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



442Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



443Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



444Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



445Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



446Glycogen storage disease X (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



447Glycogen storage disease XI (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



448Glycogen storage disease XIII (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



449Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



450Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



451glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



452GOLGA2-related congenital muscle dystrophy with brain involvement (2.49)
GOLGA2 (9q34.113)
Golgin A2



453Hereditary bundle branch system defect (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



454Hereditary motor and sensory neuropathy – Lom (with deafness) (14.26)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



455Hereditary motor and sensory neuropathy 2A (14.47, 14.75, 14.70)
MFN2 (1p36.22)
Mitofusin 2(M)



456Hereditary motor and sensory neuropathy V (12.28)
? - (4q34.3-q35.2)

457Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.47, 14.75, 14.70)
MFN2 (1p36.22)
Mitofusin 2(M)



458Hereditary motor and sensory, neuropathy, proximal, type (14.69, 15.56)
TFG (3q13)
TRK-fused gene



459Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



460Hereditary myopathy with early respiratory failure (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



461Hereditary peripheral neuropathy (14.125)
SLC9A3R1 (17q25.1)
Solute carrier family 9, member 3, regulator 1



462hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.95)
? - (3p24-p22)

463Hereditary sensory and autonomic neuropathy type IV (14.101)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



464Hereditary sensory and autonomic neuropathy type VI (14.103)
DST (6p12.1)
Dystonin



465Hereditary sensory and autonomic neuropathy type VIII (14.105)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



466Hereditary sensory neuropathy type IF (14.108)
ATL3 (11q13.1)
atlastin GTPase 3



467Hereditary sensory neuropathy with dementia and hearing loss (14.107)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



468Hereditary sensory neuropathy, type IIB (14.98)
RETREG1 (5p15.1)
Family with sequence similarity 134 member B



469Hutchinson-Gilford progeria syndrome (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



470Hydrocephalus with Hirschspung disease and cleft palate (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



471Hyperckemia, idiopathic (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



472Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



473Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



474Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



475Hypertrophic cardiomyopathy related to actinin-2 (10.62, 10.24, 3.54, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



476Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



477Hypertrophic cardiomyopathy related to cardiac myopalladin (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



478Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



479Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



480Hypertrophic cardiomyopathy related to nexilin (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



481Hypertrophic cardiomyopathy related to phospholamban (10.51, 10.19)
PLN (6q22.1)
Phospholamban



482Hypertrophic cardiomyopathy related to TCAP (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



483Hypertrophic cardiomyopathy related to ZASP (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



484Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.36)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



485Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.32)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



486Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



487Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



488Hypokalaemic periodic paralysis (7.11, 10.169)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



489Hypokalaemic periodic paralysis (7.5)
ATP1A2 (1q23.2)
ATPase, NA+/K+ transporting alpha-2 polypeptide



490Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



491Hypokalemic periodic paralysis (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



492Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.29, 4.19, 12.57, 1.57, 14.65)
VCP (9p13-p12)
Valosin-containing protein



493Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.30)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



494Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.29, 4.19, 12.57, 1.57, 14.65)
VCP (9p13-p12)
Valosin-containing protein



495Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



496Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



497Infantile-onset multisystem disease with progressive muscle weakness (16.68)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



498Isolated inclusion body myopathy (3.38, 12.63)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



499Jervell and Lange-Nielsen cardio-auditory syndrome (10.128, 10.144)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



500jervell and lange-nielsen syndrome (10.143, 10.124, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



501Kennedy disease (12.40)
AR (Xq11.2-q12)
Androgen receptor



502Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



503Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



504LAP1B related muscular dystrophy (1.9, )
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



505Late onset spinal muscular atrophy related to HEXB (12.93)
HEXB (5q13.3)
Hexosaminidase B



506late-onset spinal motor neuronopathy, Jokela type (12.36, 12.73, 16.62)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



507Left ventricular hypertrabeculation/non compaction (1.20, 5.3, 5.4, 4.10, 10.102)
MYOT (5q31)
Myotilin



508Left ventricular noncompaction 10 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



509Left ventricular noncompaction 2 (10.93)
? - (11q15)

510Left ventricular noncompaction 3 (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



511Left ventricular noncompaction 4 (3.14, 3.3, 3.41, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



512Left ventricular noncompaction 5 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96, 3.62)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



513Left ventricular noncompaction 6 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



514Left ventricular noncompaction 7 (10.98)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



515LEFT VENTRICULAR NONCOMPACTION 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



516Left ventricular noncompaction 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



517Left ventricular noncompaction 9 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



518Left ventricular noncompaction with congenital heart defects (10.92)
DTNA (18q12)
Dystrobrevin, alpha



519Left ventricular noncompaction, familial isolated (10.92)
DTNA (18q12)
Dystrobrevin, alpha



520Lethal congenital contractural syndrome 3 (12.78)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



521Lethal congenital contracture syndrome 1 (12.76)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



522Lethal Congenital Contracture Syndrome 10 (12.85)
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9



523Lethal Congenital Contracture Syndrome 11 (12.86)
GLDN (15q21.2)
Gliomedin



524Lethal congenital contracture syndrome 2 (12.77)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



525Lethal Congenital Contracture Syndrome 4 (16.10, 12.79)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



526Lethal Congenital Contracture Syndrome 5 (3.22, 2.15, 4.16, 14.14, 12.80)
DNM2 (19p13.2)
Dynamin 2



527Lethal Congenital Contracture Syndrome 6 (12.81)
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42



528Lethal congenital contracture syndrome 7 (12.82, 14.35)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



529Lethal Congenital Contracture Syndrome 8 (12.83)
ADCY6 (12q13.12)
Adenylate cyclase 6



530Lethal Congenital Contracture Syndrome 9 (12.84)
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6



531Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



532LGMD related to KBTBD13 (3.6, 1.60)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



533LGMD related to PYROXD1 (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



534LGMDD1 (1.13, 4.22, 4.23)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



535LGMDD4 (1.25, 1.16)
CAPN3 (15q15.1-q21.1)
Calpain 3



536LGMDD5 (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



537LGMDD5 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



538LGMDD5 (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



539LGMDR10 (Formerly LGMD2J) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



540LGMDR22 (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



541LGMDR22 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



542LGMDR22 (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



543LGMDR23 (2.1, 1.49)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



544LGMDR24 (2.25, 1.50)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



545LGMDR26 (1.52)
POPDC3 (6q21)
Popeye domain-containing protein 3



546Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



547Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32, 12.87)
TTN (2q31)
Titin



548Limb girdle muscular dystrophy with ophthalmoplegia (5.21, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



549Limb-Girdle, Muscular dystrophy, type 1G (1.15)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



550Limb-girdle, muscular dystrophy, type 1h (1.24)
? - (3p23-p25)

551Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



552Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



553Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



554Limb-girdle, muscular dystrophy, type 2q (5.21, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



555Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



556Limb-Girdle, Muscular dystrophy, type 2S (1.42, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



557Limb-Girdle, Muscular dystrophy, type 2T (1.43, 2.42, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



558Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.90, 1.54)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



559Limb-Girdle, Muscular dystrophy, type 2W (1.55)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



560Limb-Girdle, Muscular dystrophy, type 2X (1.51)
BVES (6q21)
Blood vessel epicardial substance



561Limb-Girdle, Muscular dystrophy, type 2Y (1.9, )
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



562Limb-Girdle, Muscular dystrophy, type 2Z (1.45)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



563Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



564lipodystrophy, congenital generalized, type 4 (1.12)
CAVIN1 (17q21-q2)
Caveolae-associated protein 1(M)



565Lipodystrophy, familial partial, type 2 (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



566Long QT syndrome 10 (10.133, 10.162)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



567Long QT syndrome 11 (10.134)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



568Long QT syndrome 12 (10.135)
SNTA1 (20q11.21)
Syntrophin, alpha 1



569Long QT syndrome 13 (10.136)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



570Long QT syndrome 14 (10.119, 10.137)
CALM1 (14q32.11)
Calmodulin 1



571Long QT syndrome 15 (10.138)
CALM2 (2p21)
Calmodulin 2



572Long QT syndrome 16 (10.139, 10.123)
CALM3 (19q13.32)
Calmodulin 3



573Long QT syndrome 9 (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



574Long QT syndrome-1 (10.143, 10.124, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



575Long QT syndrome-2 (10.125, 10.140)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



576Long QT syndrome-3 (10.126, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



577Long QT syndrome-4 (10.127)
ANK2 (4q25-26)
Ankyrin 2



578Long QT syndrome-5 (10.128, 10.144)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



579Long QT syndrome-6 (10.129, 10.148)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



580Long QT syndrome-7 (10.130, 10.142, 10.153)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



581Lower motor neuron disease with respiratory failure related to MAPT (12.97)
MAPT (17q21.31 )
Microtubule associated protein Tau



582luma related muscular dystrophy (10.108, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



583Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



584Malignant hyperthermia susceptibility 1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



585Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

586Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

587Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

588Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



589Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

590Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



591Marinesco-Sjogren syndrome (13.85)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



592Marssili syndrome (insensitivity to pain, congenital, AD) (14.112)
ZFHX2 (14q11.2)
Zinc finger homeobox 2



593MASA syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



594McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



595MELAS-like syndrome (16.66)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



596Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



597minicore myopathy with external ophthalmoplegia (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



598Mitochondrial complex 1 deficiency, nuclear type 11 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



599Mitochondrial complex IV deficiency (16.67)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)



600Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.44)
TYMP (22q13.33)
Thymidine phosphorylase



601Mitochondrial DNA depletion syndrome 11 (16.53)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)



602Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



603Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



604Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.56)
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



605Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.59, 16.57)
OPA1 (3q28-q29)
optic atrophy 1(M)



606Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.42, 16.46)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



607Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.33, 13.86, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



608Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.33, 13.86, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



609Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.49)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



610Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.51, 16.37, 16.50)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



611Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.52)
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)



612Mitochondrial dna depletion syndrome, myopathic form (16.45, 13.28, 16.41)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



613Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.31)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



614Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.34)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



615Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.33)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



616Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.30)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



617Mitochondrial myopathy (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



618Mitochondrial myopathy and sideroblastic anemia 1 (16.60)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



619Mitochondrial myopathy with severe neurological manifestations (16.65)
TMEM65 (8q24.13)
Transmembrane Protein 65



620Miyoshi muscular dystrophy 3 (1.36, 4.15)
ANO5 (11p14-12)
Anoctamin 5



621Miyoshi myopathy (4.1, 1.26)
DYSF (2p12-14)
Dysferlin



622Motor neuropathy, distal, with vocal cord paralysis (12.26, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



623Multiminicore disease, classical form (2.13, 5.12, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



624Multiple acyl-coa dehydrogenase deficiency (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



625Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



626Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



627Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



628Muscle dystrophy with congenital disorder of glycosylation (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



629Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



630Muscle hypertrophy (5.22)
MSTN (2q32.2)
Myostatin



631Muscle-eye-brain disease (1.43, 2.42, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



632Muscle-eye-brain disease (2.33, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



633Muscle-eye-brain disease (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



634Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.50)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



635Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



636Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



637Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.35, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



638Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



639Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



640Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 1.44)
ISPD (7p21.2)
Isoprenoid synthase domain containing



641Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



642Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



643Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



644Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.33, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



645Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



646Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.40, 2.38)
DAG1 (3p21)
Dystroglycan1



647Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.41, 1.61)
POMK (8p11.21)
Protein-O-mannose kinase



648Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.20, 1.35, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



649Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.9)
? - (19p13)

650Muscular dystrophy, congenital Davignon-Chauveau type (2.50, 12.11)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



651Muscular dystrophy, congenital merosin-deficient (2.1, 1.49)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



652Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



653Muscular dystrophy, congenital, with cataracts and intellectual disability (2.51)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



654Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



655Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.36, 4.15)
ANO5 (11p14-12)
Anoctamin 5



656Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



657Muscular dystrophy, Limb-Girdle, type 1A (1.20, 5.3, 5.4, 4.10, 10.102)
MYOT (5q31)
Myotilin



658Muscular dystrophy, limb-girdle, type 1B (1.4, 1.21, 1.5, 10.37, 2.17, 14.76)
LMNA (1q22)
Lamin A/C



659Muscular dystrophy, Limb-Girdle, Type 1F (1.14, 3.61)
TNPO3 (7q32.1-q32.2)
Transportin 3



660Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

661Muscular dystrophy, limb-girdle, type 2A (1.25, 1.16)
CAPN3 (15q15.1-q21.1)
Calpain 3



662Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26)
DYSF (2p12-14)
Dysferlin



663Muscular dystrophy, limb-girdle, type 2C (1.29)
SGCG (13q12)
Gamma sarcoglycan



664Muscular dystrophy, limb-girdle, type 2D (1.27)
SGCA (17q21)
Alpha sarcoglycan



665Muscular dystrophy, limb-girdle, type 2E (1.28)
SGCB (4q12)
Beta sarcoglycan



666Muscular dystrophy, limb-girdle, type 2F (1.30, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



667Muscular dystrophy, limb-girdle, type 2G (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



668Muscular dystrophy, limb-girdle, type 2H (1.32, 3.46)
TRIM32 (9q33.2)
Tripartite motif-containing 32



669Muscular dystrophy, limb-girdle, type 2I (2.33, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



670Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.35, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



671Muscular dystrophy, limb-girdle, type IC (1.22, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



672Muscular dystrophy, rigid spine, 1 (2.13, 5.12, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



673Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



674Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



675Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



676Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



677Myasthenic syndrome, congenital (11.17, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



678Myasthenic Syndrome, Congenital, 21, Presynaptic (11.27)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



679Myasthenic syndrome, congenital, 22 (11.28)
PREPL (2p21)
Prolyl endopeptidase-like



680Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.32)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



681Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



682Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



683Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



684Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



685Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.13, 12.37)
SYT2 (1q32.1)
Synaptotagmin II



686Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



687Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



688Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



689Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



690Myasthenic syndrome, with plectin defect (5.21, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



691Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



692Myofibrillar myopathy 1 (5.1, 1.23, 10.44, 1.53, 5.14, 10.122)
DES (2q35)
Desmin



693Myofibrillar myopathy 10 (5.11)
SVIL (10p11.23)
Supervillin



694myofibrillar myopathy with bag3 defect (5.7, 10.69, 14.73)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



695myofibrillar myopathy ZASP-related (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



696Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



697Myofibrillar myopathy, myotilin related (1.20, 5.3, 5.4, 4.10, 10.102)
MYOT (5q31)
Myotilin



698Myopathy centronuclear, 1 (3.22, 2.15, 4.16, 14.14, 12.80)
DNM2 (19p13.2)
Dynamin 2



699Myopathy congenital related to ACTN2 (10.62, 10.24, 3.54, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



700Myopathy congenital with fast twitch (type II) fiber atrophy (3.55)
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast



701Myopathy congenital, with fiber-type disproportion (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



702Myopathy due to CPT II deficiency (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



703Myopathy due to phosphoglycerate mutase deficiency (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



704Myopathy microfibrillar type 7 (5.8)
KY (3q22.2)
Kyphoscoliosis peptidase



705Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



706Myopathy with characteristic sarcoplasmic inclusions (5.36)
MB (22q12.3)
Myoglobin



707myopathy with deficiency of succinate dehydrogenase and aconitase (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



708myopathy with exercise intolerance, swedish type (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



709Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



710myopathy with lactic acidosis, hereditary (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



711Myopathy with nemaline bodies (3.13)
RYR3 (15q13-q14)
Ryanodine receptor 3



712Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, )
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



713Myopathy, congenital, Bailey-Bloh (3.52, 3.53)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



714Myopathy, congenital, With excess of muscle spindles (3.50)
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



715myopathy, congenital, with fiber-type disproportion (3.14, 3.3, 3.41, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



716myopathy, congenital, with fiber-type disproportion (2.13, 5.12, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



717myopathy, congenital, with fiber-type disproportion (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



718myopathy, congenital, with fiber-type disproportion (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.32, 3.28, 2.53, 16.30, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



719Myopathy, congenital, with malignant hyperthermia susceptibility (3.52, 3.53)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



720Myopathy, Congenital, With Neuropathy And Deafness (3.49)
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



721Myopathy, distal 1 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96, 3.62)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



722Myopathy, distal, 4 (5.6, 4.18, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



723Myopathy, distal, with rimmed vacuoles (12.74, 4.21, 4.8)
SQSTM1 (5q35.3)
Sequestosome 1



724Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.61)
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



725Myopathy, mitochondrial and cerebellar ataxia (13.94, 2.52, 16.70)
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)



726Myopathy, myofibrillar, 2 (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



727Myopathy, myofibrillar, filamin C-related (5.6, 4.18, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



728Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.25, 5.26, 5.27)
FHL1 (Xq26.3)
Four and a half LIM domain 1



729Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.25, 5.26, 5.27)
FHL1 (Xq26.3)
Four and a half LIM domain 1



730Myopathy, X-linked, with excessive autophagy (5.16)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



731myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



732Myosin storage myopathy (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96, 3.62)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



733Myosin, heavy chain, perinatal (16.19)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



734Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



735Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



736Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



737Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



738Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



739Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



740Myotubular myopathy, X-linked (3.21)
MTM1 (Xq28)
Myotubularin



741Myxomatous valvular dystrophy, X-ninked (10.103)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



742naxos disease (10.121, 10.114)
JUP (17q21.2)
Junction plakoglobin



743Nemaline myopathy (3.7)
CFL2 (14q12)
Cofilin 2 (muscle)



744Nemaline myopathy (3.9)
KLHL41 (2q31.1)
Kelch-like family member 41



745Nemaline myopathy (3.10)