Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.107)
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 (4.18)
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



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

7Agenesis of the corpus callosum with peripheral neuropathy (14.109)
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 (12.45)
? - (18q21)

10Amyotrophic lateral sclerosis (12.50, 12.35)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



11Amyotrophic lateral sclerosis (12.49)
? - (20p13)

12Amyotrophic lateral sclerosis (12.48)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



13Amyotrophic lateral sclerosis 1 (12.42, 12.43)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.52)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.31, 12.53)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.54)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.55)
ATXN2 (12q24.12)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.27, 4.17, 12.56, 1.57, 14.63)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.57)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.58)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.59)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.60)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 19 (12.61)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



24Amyotrophic lateral sclerosis 20 (3.38, 12.62)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



25Amyotrophic lateral sclerosis 22 (12.64)
TUBA4A (2q35)
Tubulin, Alpha-4A



26Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.69, 12.67)
KIF5A (12q13.13)
Kinesin family member 5A



27Amyotrophic lateral sclerosis 5 (15.26, 12.47, 14.85)
SPG11 (15q21.1)
Spatacsin



28amyotrophic lateral sclerosis 9 (12.51)
ANG (14q11.2)
Angiogenin



29Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.36, 12.72, 16.61)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.71)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



31Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.73, 4.19)
SQSTM1 (5q35.3)
Sequestosome 1



32Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74)
TBK1 (12q14.2)
Tank-binding kinase 1



33Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.42, 12.43)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



34Amyotrophic lateral sclerosis, juvenile (12.44, 15.69)
ALS2 (2q33.2)
Alsin



35Amyotrophic lateral sclerosis, susceptibility to, 24 (12.66)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



36Amytrophic lateral sclerosis 23 (12.65)
ANXA11 (10q23.3)
Annexin A11



37Andermann syndrome (14.109)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



38Arrhythmogenic right ventricular cardiomyopathy 2 (10.104, 10.115)
RYR2 (1q43)
Ryanodine receptor 2



39Arrhythmogenic right ventricular cardiomyopathy 3 (10.105)
? - (14q12-q22)

40Arrhythmogenic right ventricular cardiomyopathy 4 (10.106)
? - (2q32.1-q32.3)

41Arrhythmogenic right ventricular cardiomyopathy 6 (10.108, 3.47)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



42Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115)
RYR2 (1q43)
Ryanodine receptor 2



43Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



44Arrhythmogenic right ventricular dysplasia-3 (10.105)
? - (14q12-q22)

45Arrhythmogenic right ventricular dysplasia, 1 (10.103)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



46Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



47Arrhythmogenic right ventricular dysplasia, 11 (10.112)
DSC2 (18q12.1)
Desmocollin 2



48Arrhythmogenic right ventricular dysplasia, 8 (10.109)
DSP (6p24.3)
Desmoplakin



49Arrhythmogenic right ventricular dysplasia, 9 (10.110)
PKP2 (12p11.21)
Plakophilin 2



50Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



51arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113)
JUP (17q21.2)
Junction plakoglobin



52Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114)
CTNNA3 (10q21.3)
Catenin alpha 3



53Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106)
? - (2q32.1-q32.3)

54arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



55Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108, 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 related to ASCC1 (12.12, 16.24)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



60Arthrogryposis, distal, type 1B (16.10)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



61Arthrogryposis, distal, type 3 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



62Arthrogryposis, distal, type 5 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



63Arthrogryposis, distal, type 10 (16.20)
? - (2q31.3-q32.1 )

64Arthrogryposis, distal, type 1A (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



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



66arthrogryposis, distal, type 2B (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



67Arthrogryposis, distal, type 2B (16.12)
TNNI2 (11p15.5)
Troponin I, type 2



68Arthrogryposis, distal, type 2B (16.13)
TNNT3 (11p15.5)
Troponin T3, skeletal



69Arthrogryposis, distal, type 2B (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



70Arthrogryposis, distal, type 5D (16.18)
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1



71Asymmetric septal hypertrophy (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



72ataxia telangiectasia (13.86)
ATM (11q22.3)
Ataxia telangiectasia mutated



73ataxia telangiectasia-like disorder (13.87)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



74Ataxia telangiectasia-like disorder 2 (13.88)
PCNA (20p12.3)
Proloferating cell nuclear antigen



75Ataxia with isolated vitamin E deficiency (13.53)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



76Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.55)
APTX (9p13.3)
Aprataxin



77Ataxia, 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)



78Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.106)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



79ataxia, spastic, 1, autosomal dominant (15.76, 11.31)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)



80ataxia, spastic, 2, autosomal recessive (15.77)
KIF1C (17p13.2)
kinesin family member 1C



81ATFB18 (10.160)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



82atrial fibillation, familial, 8 (10.149)
? - (16q22)

83Atrial fibrillation , 12 (10.50, 10.154)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



84Atrial fibrillation, 1 (10.142)
? - (10q22-q24)

85Atrial fibrillation, 10 (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



86Atrial fibrillation, 13 (10.165, 10.155)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



87Atrial fibrillation, 14 (10.156)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



88Atrial fibrillation, 15 (10.157)
NUP155 (5p13.2)
Nucleoporin 155 kDa



89Atrial fibrillation, 16 (10.167, 10.158)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



90Atrial fibrillation, 17 (10.131, 10.159)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



91Atrial fibrillation, 2 (10.143)
? - (10q22-q24)

92Atrial fibrillation, 3 (10.140, 10.122, 10.144, 10.138)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



93Atrial fibrillation, 4 (10.127, 10.141, 10.145)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



94Atrial fibrillation, 9 (10.128, 10.139, 10.150)
KCNJ2 (17q24.3)
Potassium inwardly-rectifying channel J2



95atrial fibrillation, familial (10.148)
KCNA5 (12p13.32)
Potassium voltage-gated channel, shaker-related subfamily, member 5



96atrial fibrillation, familial, 1 (10.152, 10.153)
GJA5 (1q21.1)
Connexin 40



97atrial fibrillation, familial, 5 (10.146)
? - (4q25)

98atrial fibrillation, familial, 6 (10.147)
NPPA (1p36.22)
Natriuretic peptide precursor A



99Autophagic vacuolar myopathy (5.16)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



100Autosomal 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)
TTN (2q31)
Titin



101Autosomal recessive CMT axonal type 2S (12.5, 14.83)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



102Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.76)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



103Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.89, 14.89)
SACS (13q12)
Sacsin



104autosomal recessive spastic ataxia with leukoencephalopathy (15.78)
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)



105Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.62, 16.72)
ADCK3 (1q42.13)
Coenzyme Q8A



106Axonal neuropathy intermediate recessive C (12.8, 14.80)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



107Axonal neuropathy recessive (14.79)
KARS (16q23.1)
Lysyl-tRNA synthetase



108Axonal neuropathy with myotonia (14.77, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



109Barth syndrome (10.80, 10.91)
TAZ (Xq28)
Tafazzin



110Becker muscular distrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



111Bethlem myopathy (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



112Bethlem myopathy (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



113Bethlem myopathy (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



114Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



115Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



116Brown-Vialetto-Van Laere syndrome 1 (12.81)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



117Brown-Vialetto-Van Laere syndrome 2 (12.82)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



118Brugada syndrome (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



119brugada syndrome 2 (10.162)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



120brugada syndrome 3 (10.129, 10.163)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



121brugada syndrome 4 (10.164)
CACNB2 (10p12.33-p12.31 )
Calcium channel, voltage-dependent, beta 2 subunit



122Brugada syndrome 5 (10.165, 10.155)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



123Brugada syndrome 6 (7.11, 10.166)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



124Brugada syndrome 7 (10.167, 10.158)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



125Brugada syndrome 8 (10.170, 10.168)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



126Brugada syndrome 9 (13.17, 10.169)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



127Cap myopathy, TPM2-related, included (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



128Cardiac and skeletal aggregate myopathy (5.12)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



129Cardiac and skeletal aggregate myopathy (5.12)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



130Cardiac conduction defect, progressive (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



131cardiac valvular dysplasia, x-linked (10.102)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



132Cardimyopathy, dilated, 1A (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



133Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.88)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



134Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



135cardiomyopathy, dilated 1C (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



136Cardiomyopathy, dilated, 1A (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



137Cardiomyopathy, dilated, 1CC (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



138Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



139Cardiomyopathy, dilated, 1DD (10.65)
RBM20 (10q25.3)
RNA binding motif protein 20



140Cardiomyopathy, dilated, 1E (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



141Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.172)
MYH6 (14q12)
Myosin heavy chain 6



142Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



143Cardiomyopathy, dilated, 1G (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



144Cardiomyopathy, dilated, 1GG (10.68)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



145Cardiomyopathy, dilated, 1H (10.43)
? - (2q14-q22)

146Cardiomyopathy, dilated, 1J (10.45)
EYA4 (6q23-24)
Eyes absent 4



147Cardiomyopathy, dilated, 1K (10.46)
? - (6q12-q16)

148Cardiomyopathy, dilated, 1M (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



149Cardiomyopathy, dilated, 1O (10.50, 10.154)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



150Cardiomyopathy, dilated, 1P (10.51, 10.19)
PLN (6q22.1)
Phospholamban



151Cardiomyopathy, dilated, 1Q (10.52)
? - (7q22.3-q31.1)

152Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



153Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



154Cardiomyopathy, dilated, 1T (10.55)
TMPO (12q22)
Lamina-associated polypeptide 2



155Cardiomyopathy, dilated, 1U (10.56)
PSEN1 (14q24.2)
Presenilin 1



156Cardiomyopathy, dilated, 1W (10.57)
PSEN2 (1q42.13)
Presenilin 2



157Cardiomyopathy, dilated, 1W (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



158Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



159Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



160Cardiomyopathy, dilated, 1Z (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



161Cardiomyopathy, dilated, 2B (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



162Cardiomyopathy, Dilated, 3B (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



163Cardiomyopathy, dilated, X-linked (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



164Cardiomyopathy, familial dilated, 1 (10.38)
? - (9q13)

165cardiomyopathy, familial hypertrophic (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



166cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



167Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



168Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.172)
MYH6 (14q12)
Myosin heavy chain 6



169Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



170Cardiomyopathy, familial hypertrophic 27 (10.28)
ALPK3 (15q25.3)
Alpha kinase 3



171cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



172Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



173Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



174Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



175Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



176Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



177Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



178Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19)
PLN (6q22.1)
Phospholamban



179Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



180Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



181Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



182Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



183Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



184Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



185Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



186Cardiomyopathy, hypertrophic, 10 (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



187Cardiomyopathy, X-linked dilated (10.80, 10.91)
TAZ (Xq28)
Tafazzin



188Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.51)
MYMK (9q34.2)
Myomaker



189Carnitine deficiency, systemic primary (9.19)
SLC22A5 (5q31)
Solute carrier family 22 member 5



190Carnitine-acylcarnitine translocase deficiency (9.20)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



191Central core disease (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



192Centronuclear myopathy 2 (3.23)
BIN1 (2q14)
Amphiphysin



193Centronuclear myopathy 4 (3.27)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



194Centronuclear myopathy 6 with fiber-type disproportion (3.20)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



195Centronuclear myopathy related to TTN (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



196Centronuclear myopathy with dilated cardiomyopathy (3.26)
SPEG (2q35)
SPEG complex locus



197centronuclear myopathy, recessive (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



198Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.92)
RNF216 (7p22.1)
Ring finger protein 216



199Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

200Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (13.94)
RFC1 (4p14)
Replication faction C, subunit



201Cerebellar 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



202Cerebellar 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



203Chanarin-Dorfman syndrome (9.26)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



204Charcot-Marie Tooth disease (14.33)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



205Charcot-Marie Tooth disease, demyelinating type 1G (14.8)
PMP2 (8q21.13)
peripheral myelin protein-2



206Charcot-Marie Tooth disease, intermediate (14.19)
C1orf194 (1p21.2-p13.3)
Chromosome 1 open reading frame 194



207Charcot-Marie-Tooth 2 (14.60)
MARS (12q13.3)
Methionyl-tRNA synthetase



208Charcot-Marie-Tooth disease with deafness and mental retardation (14.37, 16.63)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



209Charcot-Marie-Tooth disease, axonal (14.87)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



210Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.71)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



211Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.88)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



212Charcot-Marie-Tooth disease, axonal, type 20 (14.57, 12.32)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



213Charcot-Marie-Tooth disease, axonal, type 2A2B (14.45, 14.72, 14.68)
MFN2 (1p36.22)
Mitofusin 2(M)



214Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



215Charcot-Marie-Tooth disease, axonal, type 2CC (12.68, 14.65)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



216Charcot-Marie-Tooth disease, axonal, type 2D (14.48, 12.21)
GARS (7p15)
Glycyl-tRNA synthetase



217Charcot-Marie-Tooth disease, axonal, type 2DD (14.66)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



218Charcot-Marie-Tooth disease, axonal, type 2EE (14.75)
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein(M)



219Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.56)
AARS (16q22.1)
Alanyl-tRNA synthetase



220Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.89, 14.89)
SACS (13q12)
Sacsin



221Charcot-Marie-Tooth disease, congenital, vertical talus (14.9)
HOXD10 (2q31.1)
Homeobox D10



222Charcot-Marie-Tooth disease, dominant intermediate B (3.22, 2.15, 4.14, 14.13)
DNM2 (19p13.2)
Dynamin 2



223Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



224Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.49, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



225Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.20, 14.54, 14.78)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



226Charcot-Marie-Tooth disease, recessive intermediate, A (14.20, 14.54, 14.78)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



227Charcot-Marie-Tooth disease, type 1A (14.1, 14.40, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



228Charcot-Marie-Tooth disease, type 1B (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



229Charcot-Marie-Tooth disease, type 1D (14.4, 14.26, 14.42)
EGR2 (10q21.1)
Early growth response 2 protein



230Charcot-Marie-Tooth disease, type 1E (14.1, 14.40, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



231Charcot-Marie-Tooth disease, type 1F (14.7, 14.49, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



232Charcot-Marie-Tooth disease, type 2A1 (14.44)
KIF1B (1p36.2)
Kinesin family member 1B(M)



233Charcot-Marie-Tooth disease, type 2B2 (14.74, 14.86)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



234Charcot-Marie-Tooth disease, type 2E (14.7, 14.49, 14.18)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



235Charcot-Marie-Tooth disease, type 2I (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



236Charcot-Marie-Tooth disease, type 2J (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



237Charcot-Marie-Tooth disease, type 2K (14.20, 14.54, 14.78)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



238Charcot-Marie-Tooth disease, type 4A (14.20, 14.54, 14.78)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



239Charcot-Marie-Tooth disease, type 4B1 (14.21)
MTMR2 (11q22)
Myotubularin-related protein 2



240charcot-marie-tooth disease, type 4b2 (14.22)
SBF2 (11p15.4)
SET binding factor 2



241Charcot-Marie-Tooth disease, type 4D (14.25)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



242Charcot-Marie-Tooth disease, type 4F (14.28, 14.43)
PRX (19q13)
Periaxin



243charcot-marie-tooth disease, type 4j (14.31, 12.53)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



244Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.37, 16.63)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



245charcot-marie-tooth disease, x-linked recessive, 2 (14.35)
? - (Xp22.2)

246charcot-marie-tooth disease, x-linked recessive, 3 (14.36)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



247charcot-marie-tooth disease, x-linked recessive, 5 (14.38)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



248Charcot-Marie-Tooth neuropathy Type 2B (14.46)
RAB7A (3q21)
RAB7, member RAS oncogene family



249Charcot-Marie-Tooth neuropathy Type 2F (14.50, 12.18)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



250Charcot-Marie-Tooth neuropathy Type 2H (14.51)
? - (8q21.3)

251Charcot-Marie-Tooth neuropathy Type 2L (14.55, 12.17, 4.21)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



252Charcot-Marie-Tooth neuropathy Type 2P (14.58)
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



253Charcot-Marie-Tooth neuropathy Type 2Q (14.59)
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1



254Charcot-Marie-Tooth neuropathy Type 2R (14.82)
TRIM2 (4q31.3)
Tripartite motif containing 2



255Charcot-Marie-Tooth neuropathy Type 2T (14.84, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



256Charcot-Marie-Tooth neuropathy Type 2V (14.61)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



257Charcot-Marie-Tooth neuropathy Type 2W (14.62)
HARS (5q31.3)
Histidyl-tRNA synthetase



258Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.47, 14.85)
SPG11 (15q21.1)
Spatacsin



259Charcot-Marie-Tooth neuropathy Type 2Y (5.27, 4.17, 12.56, 1.57, 14.63)
VCP (9p13-p12)
Valosin-containing protein



260Charcot-Marie-Tooth neuropathy Type 2Z (14.64)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



261Charcot-Marie-Tooth neuropathy Type 4B3 (14.23)
SBF1 (22q13.33)
SET binding factor 1



262Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.26, 14.42)
EGR2 (10q21.1)
Early growth response 2 protein



263Charcot-Marie-Tooth neuropathy Type 4F (14.24)
SH3TC2 (5q32)
KIAA1985 protein



264Charcot-Marie-Tooth neuropathy Type 4G (14.29)
HK1 (10q22.1)
Hexokinase 1(M)



265Charcot-Marie-Tooth neuropathy Type 4H (14.30)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



266Charcot-Marie-Tooth neuropathy Type 4K (14.32)
SURF1 (9q34.2)
Surfeit 1(M)



267Charcot-Marie-Tooth neuropathy Type F (14.17)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



268Charcot-Marie-Tooth neuropathy with glomerulopathy (14.16)
INF2 (14q32-33)
Inverted formin 2



269Charcot-Marie-Tooth neuropathy X-linked 6 (14.39)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



270charcot-marie-tooth neuropathy, dominant intermediate A (14.12)
? - (10q24.1-q25.1)

271Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.14)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



272Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



273Charcot-Marie-Tooth neuropathy, X-linked (14.34, 14.42)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



274Charlevoix disease (14.109)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



275CMT recessive intermediate D (14.81)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



276CMT2 related to KIF5A (15.6, 14.69, 12.67)
KIF5A (12q13.13)
Kinesin family member 5A



277Coenzyme Q10 deficiency 1 (16.71)
COQ2 (4q21.23)
Coenzyme Q2(M)



278Coenzyme Q10 deficiency 5 (16.73)
COQ9 (16q21)
Coenzyme Q9(M)



279Coenzyme Q10 deficiency 6 (16.74)
COQ6 (14q24.3)
Coenzyme Q6(M)



280Coenzyme Q10 deficiency 7 (16.75)
COQ4 (9q34.11)
Coenzyme Q4(M)



281Coenzyme Q10 deficiency 8 (16.76)
COQ7 (16p12.3)
Coenzyme Q7(M)



282COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



283Combined Oxidative phosphorylation Deficiency 6 (14.37, 16.63)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



284Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.79, 14.115, 12.10)
VRK1 (14q32)
Vaccinia related kinase 1



285Congenital amyotrophy (3.56)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



286congenital cataracts, facial dysmorphism, and neuropathy (14.114)
CTDP1 (18q23)
CTD phosphatase subunit 1



287Congenital multi-minicore myopathy (3.57)
FXR1 (3q26.33)
FMR1 autosomal homolog



288Congenital muscle dystrophy with joint hyperlaxity (2.42)
? - (3p23-21)

289Congenital muscle dystrophy with mitochondrial structural abnormalities (2.43)
CHKB (22q13)
Choline kinase beta



290Congenital muscular dystrophy (2.44)
? - (1q42)

291Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.34)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



292Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



293Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.42, 2.40)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



294Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.33)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



295Congenital muscular dystrophy with hypoglycosylation of dystroglycan (
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



296Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.41)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



297Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.38)
POMK (8p11.21)
Protein-O-mannose kinase



298Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.36)
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)



299Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.40, 2.35)
DAG1 (3p21)
Dystroglycan1



300Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.37)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



301Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



302Congenital muscular dystrophy with merosin deficiency (2.44)
? - (1q42)

303Congenital muscular dystrophy with rigid spine related to ACTA1 (3.14, 3.3, 3.41, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



304Congenital musuclar dystrophy with telethonin defect (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



305Congenital myasthenic syndrome (11.23)
LRP4 (11p11.2)
LDL receptor related protein 4



306Congenital myasthenic syndrome related to ALG14 (11.21)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



307Congenital myasthenic syndrome related to ALG2 (11.20)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



308Congenital Myasthenic syndrome related to GMPPB (1.43, 2.39, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



309Congenital myasthenic syndrome related to MuSK (11.15, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



310Congenital myasthenic syndrome related to RPH3A (11.38)
RPH3A (12q23.3)
Rabphilin 3A



311Congenital myasthenic syndrome type 19 (11.25)
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain



312Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



313Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.11)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



314Congenital myasthenic syndrome with episodic apnea (12.26, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



315Congenital myasthenic syndrome with intellectual disability and ataxia (11.24)
SNAP25 (20p12.2)
Synaptosome associated protein 25



316Congenital myopathy Compton-North (3.45)
CNTN1 (12q11-q12)
Contactin-1



317Congenital Myopathy related to PAX7 (3.58)
PAX7 (1p36.13)
Paired Box gene 7



318Congenital myopathy related to PTPLA (10.108, 3.47)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



319Congenital Myopathy related to PYROXD1 (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



320Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



321Congenital Myopathy related to TNPO3 (1.14, 3.61)
TNPO3 (7q32.1-q32.2)
Transportin 3



322Congenital myopathy with fatal cardiomyopathy (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



323Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



324congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



325CPT deficiency, hepatic, type II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



326CPVT5 (10.119)
TRDN (6q22.31)
Triadin



327CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



328CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



329Creatine phosphokinase, elevated serum (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



330Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



331Danon disease (5.14)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



332Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45)
EYA4 (6q23-24)
Eyes absent 4



333Dejerine-Sottas neuropathy, autosomal recessive (14.28, 14.43)
PRX (19q13)
Periaxin



334Dejerine-Sottas syndrome (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



335Dejerine-Sottas syndrome (14.4, 14.26, 14.42)
EGR2 (10q21.1)
Early growth response 2 protein



336Dejerine-Sottas Syndrome (14.1, 14.40, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



337Desmin-related myopathy (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



338Desmin-related myopathy with Mallory bodies (2.13, 5.11, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



339Dilated cardiomyopathy realted to GATAD1 (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



340Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



341Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.71)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



342Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



343Dilated Cardiomyopathy related to DOLK (10.84)
DOLK (9q34.13)
Dolichol kinase



344Dilated cardiomyopathy related to integrin-linked kinase (10.76)
ILK (11p15.5-p15.4)
Integrin-linked kinase



345Dilated cardiomyopathy related to laminin-alpha4 (10.71)
LAMA4 (6q21)
Laminin alpha 4



346Dilated cardiomyopathy related to MURC (10.83)
MURC (9q31.1)
Muscle-related coiled-coil protein



347Dilated cardiomyopathy related to MYBPC3 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



348Dilated cardiomyopathy related to nesprin-1 (1.6, 13.61, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



349Dilated cardiomyopathy related to PRDM16 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



350Dilated cardiomyopathy related to RAF1 (10.75)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



351dilated cardiomyopathy, 1aa (10.62, 10.24, 3.54)
ACTN2 (1q42-q43)
Actinin alpha2



352Dilated cardiomyopathy, 1F (
? - (6q23)

353Dilated cardiomyopathy, 1I (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



354Dilated Cardiomyopathy, 1L (1.30, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



355Dilated cardiomyopathy, 1N (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



356Dilated cardiomyopathy, related to DSG2 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



357Distal hereditary motor neuronopathy (14.77, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



358Distal motor neuropathy (12.38)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



359Distal motor neuropathy related to SYT2 (11.13, 12.37)
SYT2 (1q32.1)
Synaptotagmin II



360Distal myopathy related to caveolin (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



361Distal Spinal Muscular Atrophy with Calf Predominance (12.20)
FBXO38 (5q32)
F-box protein 38



362Distal spinal muscular atrophy, type VB (15.12, 12.23)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



363Dominant distal hereditary motor neuropathy (12.24, 14.56)
AARS (16q22.1)
Alanyl-tRNA synthetase



364Duchenne muscular dystrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



365Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.68)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)



366Dysmyelinating leukodystrophy (15.40)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



367Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



368Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



369Early onset axonal neuropathy with sensory ataxia (14.70)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



370Early onset distal myopathy with KLHL9 mutations (4.15)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



371Early onset myopathy, areflexia, respiratory distress and dysphagia (3.34, 3.33)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



372Early onset of mitochondrial myopathy (16.70)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)



373Early-onset axonal Charcot-Marie-Tooth with ataxia (14.74, 14.86)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



374Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



375Emery-Dreifuss Autosomal recessive (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



376Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



377Emery-dreifuss muscular dystrophy 4 (1.6, 13.61, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



378Emery-dreifuss muscular dystrophy 6 (1.3, 5.23, 5.24, 5.25)
FHL1 (Xq26.3)
Four and a half LIM domain 1



379Emery-dreifuss muscular dystrophy 7 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



380Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



381Endocardial fibroelastosis-2 (10.80, 10.91)
TAZ (Xq28)
Tafazzin



382Enolase deficiency (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



383Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.19, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



384episodic ataxia type 5, included (13.47)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



385episodic ataxia type 6 (13.48)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



386episodic ataxia type-3 (13.46)
? - (1q42)

387episodic ataxia type-7 (13.49)
? - (19q13)

388Episodic ataxia with myokymia (7.12)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



389Episodic 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



390episodic muscle weakness, x-linked (5.26)
? - (Xp22.3)

391Erythrocyte lactate transporter defect (9.17)
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



392Escobar syndrome (multiple pterygium syndrome) (11.33)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



393Exertional myoglobinuria due to deficiency of LDH-A (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



394Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



395Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



396Familial amyotrophic lateral sclerosis (4.5, 12.63)
MATR3 (5q31)
Matrin 3



397Familial brachial plexus neuropathy (14.111)
SEPT9 (17q25)
Septin 9



398Familial dysautonomia (Riley-Day syndrome) (16.3, 14.96)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



399Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



400Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.172)
MYH6 (14q12)
Myosin heavy chain 6



401Familial 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)



402Familial limb girdle myasthenia related to agrin (11.14)
AGRN (1p36.33)
Agrin



403Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



404Familial limb-girdle myasthenia related to DOK7 (11.16, 16.27)
DOK7 (4p16.2)
Docking protein 7



405familial sinusal bradycardia (10.170, 10.168)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



406Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



407Fatty aldehyde dehydrogenase (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



408Fetal akinesia deformation sequance with MUSK defect (11.15, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



409Fetal akinesia deformation sequence 2 (11.17, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



410Fetal akinesia deformation sequence 3 (11.16, 16.27)
DOK7 (4p16.2)
Docking protein 7



411Fetal akinesia deformation sequence 4 (16.29)
NUP88 (17p13.2)
Nucleoporin 88kD



412Fetal akinesia deformation sequence related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



413Fibrodysplasia ossificans progressiva (5.21)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



414Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



415Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



416Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24.3)
Tubulin, beta 3



417Fibrosis of extraocular muscles, congenital, 5 (16.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



418Friedreich ataxia (13.51)
FXN (9q13-q21.1)
Frataxin(M)



419friedreich ataxia 2 (13.52)
? - (9p23-p11)

420Friedreich ataxia with retained reflexes (13.51)
FXN (9q13-q21.1)
Frataxin(M)



421fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



422Giant axonal neuropathy 2 (14.113)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



423Giant axonal neuropathy-1 (14.112)
GAN1 (16q23.2)
Gigaxonin



424Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



425Glycogen storage disease II (9.1, 10.90, 1.53)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



426Glycogen storage disease IIb (5.14)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



427glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



428glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



429Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



430Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



431Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



432Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



433Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



434Glycogen storage disease X (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



435Glycogen storage disease XI (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



436Glycogen storage disease XIII (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



437Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



438Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



439glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



440GOLGA2-related congenital muscle dystrophy with brain involvement (2.46)
GOLGA2 (9q34.113)
Golgin A2



441Hereditary bundle branch system defect (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



442Hereditary motor and sensory neuropathy – Lom (with deafness) (14.25)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



443Hereditary motor and sensory neuropathy 2A (14.45, 14.72, 14.68)
MFN2 (1p36.22)
Mitofusin 2(M)



444Hereditary motor and sensory neuropathy V (12.28)
? - (4q34.3-q35.2)

445Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.45, 14.72, 14.68)
MFN2 (1p36.22)
Mitofusin 2(M)



446Hereditary motor and sensory, neuropathy, proximal, type (14.67, 15.56)
TFG (3q13)
TRK-fused gene



447Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



448Hereditary myopathy with early respiratory failure (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



449hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.91)
? - (3p24-p22)

450Hereditary sensory and autonomic neuropathy type IV (14.97)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



451Hereditary sensory and autonomic neuropathy type VI (14.99)
DST (6p12.1)
Dystonin



452Hereditary sensory and autonomic neuropathy type VIII (14.101)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



453Hereditary sensory neuropathy type IF (14.104)
ATL3 (11q13.1)
atlastin GTPase 3



454Hereditary sensory neuropathy with dementia and hearing loss (14.103)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



455Hereditary sensory neuropathy, type IIB (14.94)
RETREG1 (5p15.1)
Family with sequence similarity 134 member B



456Hutchinson-Gilford progeria syndrome (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



457Hydrocephalus with Hirschspung disease and cleft palate (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



458Hyperckemia, idiopathic (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



459Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



460Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



461Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



462Hypertrophic cardiomyopathy related to actinin-2 (10.62, 10.24, 3.54)
ACTN2 (1q42-q43)
Actinin alpha2



463Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



464Hypertrophic cardiomyopathy related to cardiac myopalladin (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



465Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



466Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



467Hypertrophic cardiomyopathy related to nexilin (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



468Hypertrophic cardiomyopathy related to phospholamban (10.51, 10.19)
PLN (6q22.1)
Phospholamban



469Hypertrophic cardiomyopathy related to TCAP (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



470Hypertrophic cardiomyopathy related to ZASP (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



471Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.36)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



472Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.32)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



473Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



474Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



475Hypokalaemic periodic paralysis (7.11, 10.166)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



476Hypokalaemic periodic paralysis (7.5)
ATP1A2 (1q23.2)
ATPase, NA+/K+ transporting alpha-2 polypeptide



477Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



478Hypokalemic periodic paralysis (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



479Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.27, 4.17, 12.56, 1.57, 14.63)
VCP (9p13-p12)
Valosin-containing protein



480Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.28)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



481Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.27, 4.17, 12.56, 1.57, 14.63)
VCP (9p13-p12)
Valosin-containing protein



482Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



483Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



484Infantile-onset multisystem disease with progressive muscle weakness (16.67)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



485Isolated inclusion body myopathy (3.38, 12.62)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



486jervell and lange-nielsen syndrome (10.140, 10.122, 10.144, 10.138)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



487Jervell and Lange-Nielsen syndrome (10.126)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



488Kennedy disease (12.39)
AR (Xq11.2-q12)
Androgen receptor



489Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



490Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



491LAP1B related muscular dystrophy (1.9, 1.55)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



492Late onset spinal muscular atrophy related to HEXB (12.83)
HEXB (5q13.3)
Hexosaminidase B



493late-onset spinal motor neuronopathy, Jokela type (12.36, 12.72, 16.61)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



494Left ventricular noncompaction 10 (10.4, 3.44, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



495Left ventricular noncompaction 2 (10.93)
? - (11q15)

496Left ventricular noncompaction 3 (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



497Left ventricular noncompaction 4 (3.14, 3.3, 3.41, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



498Left ventricular noncompaction 5 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



499Left ventricular noncompaction 6 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



500Left ventricular noncompaction 7 (10.98)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



501LEFT VENTRICULAR NONCOMPACTION 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



502Left ventricular noncompaction 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



503Left ventricular noncompaction 9 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



504Left ventricular noncompaction with congenital heart defects (10.92)
DTNA (18q12)
Dystrobrevin, alpha



505Left ventricular noncompaction, familial isolated (10.92)
DTNA (18q12)
Dystrobrevin, alpha



506Lethal congenital contractural syndrome 3 (12.77)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



507Lethal congenital contracture syndrome (16.25)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



508Lethal congenital contracture syndrome 1 (12.75)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



509Lethal congenital contracture syndrome 2 (12.76)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



510LGMD related to KBTBD13 (3.6, 1.60)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



511LGMD related to PYROXD1 (5.9, 1.59, 3.60)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



512LGMDD1 (1.13, 4.20)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



513LGMDD4 (1.25, 1.16)
CAPN3 (15q15.1-q21.1)
Calpain 3



514LGMDD5 (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



515LGMDD5 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



516LGMDD5 (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



517LGMDR10 (Formerly LGMD2J) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



518LGMDR22 (2.2, 2.6, 1.46, 1.17)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



519LGMDR22 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



520LGMDR22 (2.8, 2.4, 1.48, 1.19)
COL6A3 (2q37)
Alpha 3 type VI collagen



521LGMDR23 (2.1, 1.49)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



522LGMDR24 (2.25, 1.50)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



523Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



524Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32)
TTN (2q31)
Titin



525Limb girdle muscular dystrophy with ophthalmoplegia (5.19, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



526Limb-Girdle, Muscular dystrophy, type 1G (1.15)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



527Limb-girdle, muscular dystrophy, type 1h (1.24)
? - (3p23-p25)

528Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



529Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



530Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



531Limb-girdle, muscular dystrophy, type 2q (5.19, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



532Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



533Limb-Girdle, Muscular dystrophy, type 2S (1.42, 2.40)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



534Limb-Girdle, Muscular dystrophy, type 2T (1.43, 2.39, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



535Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.90, 1.53)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



536Limb-Girdle, Muscular dystrophy, type 2W (1.54)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



537Limb-Girdle, Muscular dystrophy, type 2X (1.51)
BVES (6q21)
Blood vessel epicardial substance



538Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.55)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



539Limb-Girdle, Muscular dystrophy, type 2Z (1.45)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



540Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



541lipodystrophy, congenital generalized, type 4 (1.12)
PTRF (17q21-q23)
Polymerase I and transcript release factor(M)



542Lipodystrophy, familial partial, type 2 (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



543Long QT syndrome 10 (10.131, 10.159)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



544Long QT syndrome 11 (10.132)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



545Long QT syndrome 12 (10.133)
SNTA1 (20q11.21)
Syntrophin, alpha 1



546Long QT syndrome 13 (10.134)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



547Long QT syndrome 14 (10.118, 10.135)
CALM1 (14q32.11)
Calmodulin 1



548Long QT syndrome 15 (10.136)
CALM2 (2p21)
Calmodulin 2



549Long QT syndrome 9 (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



550Long QT syndrome-1 (10.140, 10.122, 10.144, 10.138)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



551Long QT syndrome-2 (10.123, 10.137)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



552Long QT syndrome-3 (10.124, 10.41, 10.161, 10.171, 10.151)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



553Long QT syndrome-4 (10.125)
ANK2 (4q25-26)
Ankyrin 2



554Long QT syndrome-5 (10.126)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



555Long QT syndrome-6 (10.127, 10.141, 10.145)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



556Long QT syndrome-7 (10.128, 10.139, 10.150)
KCNJ2 (17q24.3)
Potassium inwardly-rectifying channel J2



557Lower motor neuron disease with respiratory failure related to MAPT (12.87)
MAPT (17q21.31 )
Microtubule associated protein Tau



558luma related muscular dystrophy (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



559Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



560Malignant hyperthermia susceptibility 1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



561Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

562Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

563Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

564Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.48)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



565Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

566Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



567Marinesco-Sjogren syndrome (13.84)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



568Marssili syndrome (insensitivity to pain, congenital, AD) (14.108)
ZFHX2 (14q11.2)
Zinc finger homeobox 2



569MASA syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



570McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



571MELAS-like syndrome (16.65)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



572Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.57)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



573minicore myopathy with external ophthalmoplegia (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



574Mitochondrial complex 1 deficiency, nuclear type 11 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



575Mitochondrial complex IV deficiency (16.66)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)



576Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.43)
TYMP (22q13.33)
Thymidine phosphorylase



577Mitochondrial DNA depletion syndrome 11 (16.52)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)



578Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.33, 16.54, 16.53)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



579Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.33, 16.54, 16.53)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



580Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.55)
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



581Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.58, 16.56)
OPA1 (3q28-q29)
optic atrophy 1(M)



582Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.41, 16.45)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



583Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.32, 13.85, 16.38, 16.47, 16.46)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



584Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.32, 13.85, 16.38, 16.47, 16.46)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



585Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.48)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



586Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.50, 16.36, 16.49)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



587Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.51)
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)



588Mitochondrial dna depletion syndrome, myopathic form (16.44, 13.28, 16.40)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



589Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.31)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



590Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.34)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



591Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.33)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



592Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.30)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



593Mitochondrial myopathy (16.57)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



594Mitochondrial myopathy and sideroblastic anemia 1 (16.59)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



595Mitochondrial myopathy with severe neurological manifestations (16.64)
TMEM65 (8q24.13)
Transmembrane Protein 65



596Miyoshi muscular dystrophy 3 (1.36, 4.13)
ANO5 (11p14-12)
Anoctamin 5



597Miyoshi myopathy (4.1, 1.26)
DYSF (2p12-14)
Dysferlin



598Motor neuropathy, distal, with vocal cord paralysis (12.26, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



599Multiminicore disease, classical form (2.13, 5.11, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



600Multiple acyl-coa dehydrogenase deficiency (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



601Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



602Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



603Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



604Muscle dystrophy with congenital disorder of glycosylation (2.34)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



605Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



606Muscle hypertrophy (5.20)
MSTN (2q32.2)
Myostatin



607Muscle-eye-brain disease (1.43, 2.39, 2.30, 11.35)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



608Muscle-eye-brain disease (2.31, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



609Muscle-eye-brain disease (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



610Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.50)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



611Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.38)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



612Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



613Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.35)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



614Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



615Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.31, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



616Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 1.44)
ISPD (7p21.2)
Isoprenoid synthase domain containing



617Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



618Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



619Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.32)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



620Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.31, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



621Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.59, 1.37)
FKTN (9q31-q33)
Fukutin



622Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.40, 2.35)
DAG1 (3p21)
Dystroglycan1



623Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
? - (19p13)

624Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.11)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



625Muscular dystrophy, congenital merosin-deficient (2.1, 1.49)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



626Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



627Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



628Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



629Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.36, 4.13)
ANO5 (11p14-12)
Anoctamin 5



630Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.27, 2.23, 1.39)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



631Muscular dystrophy, Limb-Girdle, type 1A (1.20, 5.3, 5.4, 4.9)
MYOT (5q31)
Myotilin



632Muscular dystrophy, limb-girdle, type 1B (1.4, 1.21, 1.5, 10.37, 2.17, 14.73)
LMNA (1q22)
Lamin A/C



633Muscular dystrophy, Limb-Girdle, Type 1F (1.14, 3.61)
TNPO3 (7q32.1-q32.2)
Transportin 3



634Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

635Muscular dystrophy, limb-girdle, type 2A (1.25, 1.16)
CAPN3 (15q15.1-q21.1)
Calpain 3



636Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26)
DYSF (2p12-14)
Dysferlin



637Muscular dystrophy, limb-girdle, type 2C (1.29)
SGCG (13q12)
Gamma sarcoglycan



638Muscular dystrophy, limb-girdle, type 2D (1.27)
SGCA (17q21)
Alpha sarcoglycan



639Muscular dystrophy, limb-girdle, type 2E (1.28)
SGCB (4q12)
Beta sarcoglycan



640Muscular dystrophy, limb-girdle, type 2F (1.30, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



641Muscular dystrophy, limb-girdle, type 2G (1.31, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



642Muscular dystrophy, limb-girdle, type 2H (1.32, 3.46)
TRIM32 (9q33.2)
Tripartite motif-containing 32



643Muscular dystrophy, limb-girdle, type 2I (2.31, 1.33, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



644Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.35)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



645Muscular dystrophy, limb-girdle, type IC (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16)
CAV3 (3p25.3)
Caveolin 3



646Muscular dystrophy, rigid spine, 1 (2.13, 5.11, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



647Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



648Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



649Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



650Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



651Myasthenic syndrome, congenital (11.17, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



652Myasthenic Syndrome, Congenital, 21, Presynaptic (11.27)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



653Myasthenic syndrome, congenital, 22 (11.28)
PREPL (2p21)
Prolyl endopeptidase-like



654Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.32)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



655Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



656Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



657Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



658Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



659Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.13, 12.37)
SYT2 (1q32.1)
Synaptotagmin II



660Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



661Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



662Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



663Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



664Myasthenic syndrome, with plectin defect (5.19, 1.41, 11.34, 1.58)
PLEC (8q24.3)
Plectin



665Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



666Myofibrillar myopathy 1 (5.1, 1.23, 10.44, 1.52, 5.13, 10.121)
DES (2q35)
Desmin



667myofibrillar myopathy with bag3 defect (5.7, 10.69, 14.71)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



668myofibrillar myopathy ZASP-related (5.5, 10.39, 4.12, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



669Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



670Myofibrillar myopathy, myotilin related (1.20, 5.3, 5.4, 4.9)
MYOT (5q31)
Myotilin



671Myopathy centronuclear, 1 (3.22, 2.15, 4.14, 14.13)
DNM2 (19p13.2)
Dynamin 2



672Myopathy congenital related to ACTN2 (10.62, 10.24, 3.54)
ACTN2 (1q42-q43)
Actinin alpha2



673Myopathy congenital with fast twitch (type II) fiber atrophy (3.55)
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast



674Myopathy congenital, with fiber-type disproportion (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



675Myopathy due to CPT II deficiency (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



676Myopathy due to phosphoglycerate mutase deficiency (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



677Myopathy microfibrillar type 7 (5.8)
KY (3q22.2)
Kyphoscoliosis peptidase



678Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



679Myopathy with characteristic sarcoplasmic inclusions (5.34)
MB (22q12.3)
Myoglobin



680myopathy with deficiency of succinate dehydrogenase and aconitase (5.29)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



681myopathy with exercise intolerance, swedish type (5.29)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



682Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.37)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



683myopathy with lactic acidosis, hereditary (5.29)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



684Myopathy with nemaline bodies (3.13)
RYR3 (15q13-q14)
Ryanodine receptor 3



685Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 1.55)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



686Myopathy, congenital, Bailey-Bloh (3.52, 3.53)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



687Myopathy, congenital, With excess of muscle spindles (3.50)
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



688myopathy, congenital, with fiber-type disproportion (3.14, 3.3, 3.41, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



689myopathy, congenital, with fiber-type disproportion (2.13, 5.11, 3.15, 3.31)
SELENON (1p36.13)
Selenoprotein N1



690myopathy, congenital, with fiber-type disproportion (10.9, 3.19)
MYL2 (12q23-q24.3)
Myosin light chain 2



691myopathy, congenital, with fiber-type disproportion (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



692Myopathy, congenital, with malignant hyperthermia susceptibility (3.52, 3.53)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



693Myopathy, Congenital, With Neuropathy And Deafness (3.49)
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



694Myopathy, distal 1 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



695Myopathy, distal, 4 (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



696Myopathy, distal, with rimmed vacuoles (12.73, 4.19)
SQSTM1 (5q35.3)
Sequestosome 1



697Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.60)
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



698Myopathy, mitochondrial and cerebellar ataxia (13.93, 2.49, 16.69)
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)



699Myopathy, myofibrillar, 2 (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



700Myopathy, myofibrillar, filamin C-related (5.6, 4.16, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



701Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.23, 5.24, 5.25)
FHL1 (Xq26.3)
Four and a half LIM domain 1



702Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.23, 5.24, 5.25)
FHL1 (Xq26.3)
Four and a half LIM domain 1



703Myopathy, X-linked, with excessive autophagy (5.15)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



704myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12, 1.47, 1.18)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



705Myosin storage myopathy (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



706Myosin, heavy chain, perinatal (16.19)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



707Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



708Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



709Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



710Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



711Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



712Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



713Myotubular myopathy, X-linked (3.21)
MTM1 (Xq28)
Myotubularin



714Myxomatous valvular dystrophy, X-ninked (10.102)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



715naxos disease (10.120, 10.113)
JUP (17q21.2)
Junction plakoglobin



716Nemaline myopathy (3.7)
CFL2 (14q12)
Cofilin 2 (muscle)



717Nemaline myopathy (3.9)
KLHL41 (2q31.1)
Kelch-like family member 41



718Nemaline myopathy (3.10)
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



719Nemaline myopathy (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



720Nemaline myopathy 1, autosomal dominant (3.1, 3.16, 3.39)
TPM3 (1q21.2)
Tropomyosin 3



721Nemaline myopathy 2, autosomal recessive (3.2, 4.10)
NEB (2q22)
Nebulin



722Nemaline myopathy 3 (3.14, 3.3, 3.41, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



723Nemaline myopathy 4 (3.4, 3.40, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



724Nemaline myopathy 5 (3.5)
TNNT1 (19q13.4)
Slow troponin T



725Nemaline myopathy 6 (3.6, 1.60)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



726Nemaline Myopathy with Cardiomyopathy (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



727Nesprin-2 related muscular dystrophy (1.7)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



728Neurodegeneration with brain iron accumulation 4 (15.42)
C19orf12 (19q12)
Chromosome 19 open reading frame 12(M)



729Neuronal intranuclear inclusion diseases (14.117)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



730Neuronopathy, distal hereditary motor, type I (12.16)
? - (7q34-q36)

731neuronopathy, distal hereditary motor, type IIC (12.19)
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



732Neuronopathy, distal hereditary motor, type IX (12.25)
WARS (14q32.2)
Tryptophanyl-tRNA synthetase



733Neuronopathy, distal hereditary motor, type V (15.9, 12.22)
BSCL2 (11q12-q13.5)
Seipin



734Neuronopathy, distal hereditary motor, type VIIB (12.27, 12.70)
DCTN1 (2p13)
Dynactin 1



735Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.37, 16.63)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



736Neuropathy, congenital hypomyelinating (14.2, 14.41, 14.52, 14.53, 14.27, 14.15)
MPZ (1q22)
Myelin protein zero



737Neuropathy, congenital hypomyelinating (14.4, 14.26, 14.42)
EGR2 (10q21.1)
Early growth response 2 protein



738Neuropathy, distal hereditary motor type V (14.48, 12.21)
GARS (7p15)
Glycyl-tRNA synthetase



739Neuropathy, distal hereditary motor, type II (14.55, 12.17, 4.21)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



740Neuropathy, distal hereditary motor, type IIB (14.50, 12.18)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



741Neuropathy, distal hereditary motor, with pyramidal features (12.46, 13.82)
SETX (9q34.13)
Senataxin



742Neuropathy, hereditary motor and sensory, lom type (14.25)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



743Neuropathy, hereditary motor and sensory, Okinawa type (14.67, 15.56)
TFG (3q13)
TRK-fused gene



744Neuropathy, hereditary motor and sensory, type VIB (12.80)
SLC25A46 (5q22.1)
solute carrier family 25 member 46



745neuropathy, hereditary sensory and autonomic type v (14.98)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)