Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.114)
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 (14.120)
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 (12.76)
LRP10 (14q11.2)
Low Density Lipoprotein Receptor-Related Protein 10



14Amyotrophic lateral sclerosis (14.97, 12.77)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



15Amyotrophic lateral sclerosis 1 (12.43, 12.44)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



16amyotrophic lateral sclerosis 10 (12.53)
TARDBP (1p36.2)
TAR DNA binding protein



17Amyotrophic lateral sclerosis 11 (14.32, 12.54)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



18Amyotrophic lateral sclerosis 12 (12.55)
OPTN (10p14)
Optineurin



19Amyotrophic lateral sclerosis 13 (13.2, 12.56)
ATXN2 (12q24.12)
Ataxin 2



20Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.29, 4.19, 12.57, 1.62, 14.65)
VCP (9p13-p12)
Valosin-containing protein



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



22Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.59)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



23Amyotrophic lateral sclerosis 17 (12.60)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



24Amyotrophic lateral sclerosis 18 (12.61)
PFN1 (17p13.2)
Profilin 1



25Amyotrophic lateral sclerosis 19 (12.62)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



26Amyotrophic lateral sclerosis 20 (3.40, 12.63)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



27Amyotrophic lateral sclerosis 22 (12.65)
TUBA4A (2q35)
Tubulin, Alpha-4A



28Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.72, 12.68)
KIF5A (12q13.13)
Kinesin family member 5A



29Amyotrophic lateral sclerosis 5 (15.26, 12.48, 14.89)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



30amyotrophic lateral sclerosis 9 (12.52)
ANG (14q11.2)
Angiogenin



31Amyotrophic 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)



32Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.72)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



33Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74, 4.21, 4.8)
SQSTM1 (5q35.3)
Sequestosome 1



34Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.75)
TBK1 (12q14.2)
Tank-binding kinase 1



35Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.43, 12.44)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



36Amyotrophic lateral sclerosis, juvenile (12.45, 15.69)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



37Amyotrophic lateral sclerosis, susceptibility to, 24 (12.67)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



38Amytrophic lateral sclerosis 23 (12.66, 12.102)
ANXA11 (10q23.3)
Annexin A11



39Andermann syndrome (14.120)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



40Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.130, 10.136)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



41Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.142, 10.153, 10.129)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



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



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

44Arrhythmogenic right ventricular cardiomyopathy 4 (10.106)
? - (2q32.1-q32.3)

45Arrhythmogenic right ventricular cardiomyopathy 6 (10.108, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



46Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115)
RYR2 (1q43)
Ryanodine receptor 2



47Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



48Arrhythmogenic right ventricular dysplasia-3 (10.105)
? - (14q12-q22)

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



50Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



51Arrhythmogenic right ventricular dysplasia, 11 (10.112)
DSC2 (18q12.1)
Desmocollin 2



52Arrhythmogenic right ventricular dysplasia, 8 (10.109)
DSP (6p24.3)
Desmoplakin



53Arrhythmogenic right ventricular dysplasia, 9 (10.110)
PKP2 (12p11.21)
Plakophilin 2



54Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



55arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113)
JUP (17q21.2)
Junction plakoglobin



56Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114)
CTNNA3 (10q21.3)
Catenin alpha 3



57Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106)
? - (2q32.1-q32.3)

58arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



59Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



60arrhythmogenic right ventricular dysplasia, familial, 7 (
? - (10q22)

61Arthrogryposis and BICD2-related neuromuscular disease (12.33, 12.34, 16.22)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



62Arthrogryposis and muscular dysplasia (16.23)
MET (7q31.2)
MET protooncogene



63Arthrogryposis multiplex congenita with nesprin-1 defect (1.6, 13.63, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



64Arthrogryposis related to ASCC1 (12.12, 16.24)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



65Arthrogryposis, distal, type 1B (16.10, 12.81)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



66Arthrogryposis, distal, type 3 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



67Arthrogryposis, distal, type 5 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



68Arthrogryposis, distal, type 10 (16.20)
? - (2q31.3-q32.1 )

69Arthrogryposis, distal, type 1A (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



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



71arthrogryposis, distal, type 2B (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



72Arthrogryposis, distal, type 2B (16.12)
TNNI2 (11p15.5)
Troponin I, type 2



73Arthrogryposis, distal, type 2B (16.13, 3.14)
TNNT3 (11p15.5)
Troponin T3, skeletal



74Arthrogryposis, distal, type 2B (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



75Arthrogryposis, distal, type 5D (16.18)
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1



76Asymmetric septal hypertrophy (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



77ataxia telangiectasia (13.91)
ATM (11q22.3)
Ataxia telangiectasia mutated



78ataxia telangiectasia-like disorder (13.92)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



79Ataxia telangiectasia-like disorder 2 (13.93)
PCNA (20p12.3)
Proloferating cell nuclear antigen



80Ataxia with isolated vitamin E deficiency (13.55)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



81Ataxia-pancytopenia syndrome (13.52)
SAMD9L (7q21.2)
Sterile Alpha Motif Domain-Containing Protein 9-Like



82Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.57)
APTX (9p13.3)
Aprataxin



83Ataxia, Friedreich-like, with selective vitamin E deficiency (13.55)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



84Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.113)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



85ataxia, spastic, 1, autosomal dominant (15.76, 11.33)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)(M)



86ataxia, spastic, 2, autosomal recessive (15.77)
KIF1C (17p13.2)
kinesin family member 1C



87ATFB18 (10.163)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



88atrial fibillation, familial, 8 (10.152)
? - (16q22)

89Atrial fibrillation , 12 (10.50, 10.157)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



90Atrial fibrillation, 1 (10.145)
? - (10q22-q24)

91Atrial fibrillation, 10 (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



92Atrial fibrillation, 13 (10.168, 10.158)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



93Atrial fibrillation, 14 (10.159)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



94Atrial fibrillation, 15 (10.160)
NUP155 (5p13.2)
Nucleoporin 155 kDa



95Atrial fibrillation, 16 (10.170, 10.161)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



96Atrial fibrillation, 17 (10.133, 10.162)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



97Atrial fibrillation, 2 (10.146)
? - (10q22-q24)

98Atrial fibrillation, 3 (10.143, 10.123, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



99Atrial fibrillation, 4 (10.128, 10.148)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



100Atrial fibrillation, 9 (10.142, 10.153, 10.129)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



101atrial fibrillation, familial (10.151)
KCNA5 (12p13.32)
Potassium voltage-gated channel, shaker-related subfamily, member 5



102atrial fibrillation, familial, 1 (10.155, 10.156)
GJA5 (1q21.1)
Connexin 40



103atrial fibrillation, familial, 5 (10.149)
? - (4q25)

104atrial fibrillation, familial, 6 (10.150)
NPPA (1p36.22)
Natriuretic peptide precursor A



105Autophagic vacuolar myopathy (5.17)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



106Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



107Autosomal recessive CMT axonal type 2S (12.5, 14.87)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



108Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.80)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



109Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.94, 14.93)
SACS (13q12)
Sacsin



110autosomal recessive spastic ataxia with leukoencephalopathy (15.78)
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)



111Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.64, 16.73)
ADCK3 (1q42.13)
Coenzyme Q8A



112Axonal neuropathy intermediate recessive C (12.8, 14.84)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



113Axonal neuropathy recessive (14.83)
KARS (16q23.1)
Lysyl-tRNA synthetase



114Axonal neuropathy with myotonia (14.81, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



115Barth syndrome (10.80, 10.91)
TAZ (Xq28)
Tafazzin



116Becker muscular distrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



117Bethlem myopathy (2.8, 2.4, 1.53, 1.24)
COL6A3 (2q37)
Alpha 3 type VI collagen



118Bethlem myopathy (2.2, 2.6, 1.51, 1.22)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



119Bethlem myopathy (2.5, 2.7, 2.12, 1.52, 1.23)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



120Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



121Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



122Brown-Vialetto-Van Laere syndrome 1 (12.93)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



123Brown-Vialetto-Van Laere syndrome 2 (12.94)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



124Brugada syndrome (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



125Brugada syndrome (10.173)
TMEM168 (7q31.1 )
Transmembrane protein 168



126brugada syndrome 2 (10.165)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



127brugada syndrome 3 (10.131, 10.166)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



128brugada syndrome 4 (10.167)
CACNB2 (10p12.33-p12.31 )
Calcium channel, voltage-dependent, beta 2 subunit



129Brugada syndrome 5 (10.168, 10.158)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



130Brugada syndrome 6 (7.11, 10.169)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



131Brugada syndrome 7 (10.170, 10.161)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



132Brugada syndrome 8 (10.174, 10.171)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



133Brugada syndrome 9 (13.17, 10.172)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



134Cap myopathy, TPM2-related, included (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



135Cardiac and skeletal aggregate myopathy (5.13)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



136Cardiac and skeletal aggregate myopathy (5.13)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



137Cardiac conduction defect, progressive (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



138cardiac valvular dysplasia, x-linked (10.102)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



139Cardimyopathy, dilated, 1A (10.4, 3.46, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



140Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.92)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



141Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



142cardiomyopathy, dilated 1C (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



143Cardiomyopathy, dilated, 1A (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



144Cardiomyopathy, dilated, 1CC (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



145Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



146Cardiomyopathy, dilated, 1DD (10.65)
RBM20 (10q25.3)
RNA binding motif protein 20



147Cardiomyopathy, dilated, 1E (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



148Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



149Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



150Cardiomyopathy, dilated, 1G (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



151Cardiomyopathy, dilated, 1GG (10.68)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



152Cardiomyopathy, dilated, 1H (10.43)
? - (2q14-q22)

153Cardiomyopathy, dilated, 1J (10.45)
EYA4 (6q23-24)
Eyes absent 4



154Cardiomyopathy, dilated, 1K (10.46)
? - (6q12-q16)

155Cardiomyopathy, dilated, 1M (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



156Cardiomyopathy, dilated, 1O (10.50, 10.157)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



157Cardiomyopathy, dilated, 1P (10.51, 10.19)
PLN (6q22.1)
Phospholamban



158Cardiomyopathy, dilated, 1Q (10.52)
? - (7q22.3-q31.1)

159Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



160Cardiomyopathy, dilated, 1S (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



161Cardiomyopathy, dilated, 1T (10.55)
TMPO (12q22)
Lamina-associated polypeptide 2



162Cardiomyopathy, dilated, 1U (10.56)
PSEN1 (14q24.2)
Presenilin 1



163Cardiomyopathy, dilated, 1W (10.57)
PSEN2 (1q42.13)
Presenilin 2



164Cardiomyopathy, dilated, 1W (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



165Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.42)
FKTN (9q31-q33)
Fukutin



166Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



167Cardiomyopathy, dilated, 1Z (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



168Cardiomyopathy, dilated, 2B (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



169Cardiomyopathy, Dilated, 3B (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



170Cardiomyopathy, dilated, X-linked (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



171Cardiomyopathy, familial dilated, 1 (10.38)
? - (9q13)

172cardiomyopathy, familial hypertrophic (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



173cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



174Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



175Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



176Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



177Cardiomyopathy, familial hypertrophic 27 (10.28)
ALPK3 (15q25.3)
Alpha kinase 3



178cardiomyopathy, familial hypertrophic, 1, included (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



179Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.20)
MYL2 (12q23-q24.3)
Myosin light chain 2



180Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



181Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



182Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58)
VCL (10q22.1-q23)
Vinculin



183Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



184Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



185Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19)
PLN (6q22.1)
Phospholamban



186Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



187Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.18, 10.27, 10.89)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



188Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



189Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.46, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



190Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



191Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



192Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67)
TNNI3 (19q13.4)
Troponin I, cardiac



193Cardiomyopathy, hypertrophic, 10 (10.9, 3.20)
MYL2 (12q23-q24.3)
Myosin light chain 2



194Cardiomyopathy, X-linked dilated (10.80, 10.91)
TAZ (Xq28)
Tafazzin



195Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.53)
MYMK (9q34.2)
Myomaker



196Carnitine deficiency, systemic primary (9.19)
SLC22A5 (5q31)
Solute carrier family 22 member 5



197Carnitine-acylcarnitine translocase deficiency (9.20)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



198Central core disease (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



199Centronuclear myopathy 2 (3.24)
BIN1 (2q14)
Amphiphysin



200Centronuclear myopathy 4 (3.28)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



201Centronuclear myopathy 6 with fiber-type disproportion (3.21)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



202Centronuclear myopathy related to TTN (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



203Centronuclear myopathy with dilated cardiomyopathy (3.27)
SPEG (2q35)
SPEG complex locus



204centronuclear myopathy, recessive (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



205Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.97)
RNF216 (7p22.1)
Ring finger protein 216



206Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.39, 16.64, 13.100)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



207Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

208Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.119)
RFC1 (4p14)
Replication Factor C Subunit 1



209Cerebellar 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



210Cerebellar 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



211Chanarin-Dorfman syndrome (9.26)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



212Charcot-Marie Tooth disease (14.34)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



213Charcot-Marie Tooth disease related to CNTNAP1 (12.84, 14.35)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



214Charcot-Marie Tooth disease, demyelinating type 1G (14.8)
PMP2 (8q21.13)
peripheral myelin protein-2



215Charcot-Marie Tooth disease, intermediate (14.20)
C1orf194 (1p21.2-p13.3)
Chromosome 1 open reading frame 194



216Charcot-Marie-Tooth 2 (14.62)
MARS (12q13.3)
Methionyl-tRNA synthetase



217Charcot-Marie-Tooth disease with deafness and mental retardation (14.39, 16.64, 13.100)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



218Charcot-Marie-Tooth disease, axonal (14.91)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



219Charcot-Marie-Tooth disease, axonal (12.100, 14.95)
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



220Charcot-Marie-Tooth disease, axonal (15.35, 14.96)
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1



221Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.74)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



222Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.75)
JAG1 (20p12.2)
Jagged 1



223Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.92)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



224Charcot-Marie-Tooth disease, axonal, type 20 (14.59, 12.32)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



225Charcot-Marie-Tooth disease, axonal, type 2A2B (14.47, 14.76, 14.71)
MFN2 (1p36.22)
Mitofusin 2(M)



226Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



227Charcot-Marie-Tooth disease, axonal, type 2CC (12.69, 14.67)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



228Charcot-Marie-Tooth disease, axonal, type 2D (14.50, 12.21)
GARS (7p15)
Glycyl-tRNA synthetase



229Charcot-Marie-Tooth disease, axonal, type 2DD (14.68)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



230Charcot-Marie-Tooth disease, axonal, type 2EE (14.79)
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein(M)



231Charcot-Marie-Tooth disease, axonal, type 2FF (14.69)
CADM3 (1q23.2)
Cell adhesion molecule 3



232Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.58)
AARS (16q22.1)
Alanyl-tRNA synthetase



233Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.94, 14.93)
SACS (13q12)
Sacsin



234Charcot-Marie-Tooth disease, congenital, vertical talus (14.9)
HOXD10 (2q31.1)
Homeobox D10



235Charcot-Marie-Tooth disease, dominant intermediate A (14.13, 12.39)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



236Charcot-Marie-Tooth disease, dominant intermediate B (3.23, 2.15, 4.16, 14.14, 12.82)
DNM2 (19p13.2)
Dynamin 2



237Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



238Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



239Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.21, 14.56, 14.82)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



240Charcot-Marie-Tooth disease, recessive intermediate, A (14.21, 14.56, 14.82)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



241Charcot-Marie-Tooth disease, type 1A (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



242Charcot-Marie-Tooth disease, type 1B (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



243Charcot-Marie-Tooth disease, type 1D (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



244Charcot-Marie-Tooth disease, type 1E (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



245Charcot-Marie-Tooth disease, type 1F (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



246Charcot-Marie-Tooth disease, type 2A1 (14.46)
KIF1B (1p36.2)
Kinesin family member 1B(M)



247Charcot-Marie-Tooth disease, type 2B2 (14.78, 14.90)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



248Charcot-Marie-Tooth disease, type 2E (14.7, 14.51, 14.19)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



249Charcot-Marie-Tooth disease, type 2I (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



250Charcot-Marie-Tooth disease, type 2J (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



251Charcot-Marie-Tooth disease, type 2K (14.21, 14.56, 14.82)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



252Charcot-Marie-Tooth disease, type 4A (14.21, 14.56, 14.82)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



253Charcot-Marie-Tooth disease, type 4B1 (14.22)
MTMR2 (11q22)
Myotubularin-related protein 2



254charcot-marie-tooth disease, type 4b2 (14.23)
SBF2 (11p15.4)
SET binding factor 2



255Charcot-Marie-Tooth disease, type 4D (14.26)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



256Charcot-Marie-Tooth disease, type 4F (14.29, 14.45)
PRX (19q13)
Periaxin



257charcot-marie-tooth disease, type 4j (14.32, 12.54)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



258Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.39, 16.64, 13.100)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



259charcot-marie-tooth disease, x-linked recessive, 2 (14.37)
? - (Xp22.2)

260charcot-marie-tooth disease, x-linked recessive, 3 (14.38)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



261charcot-marie-tooth disease, x-linked recessive, 5 (14.40)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



262Charcot-Marie-Tooth neuropathy (14.12)
ITPR3 (6q21.31)
Inositol 1,4,5-triphosphate receptor, type 3



263Charcot-Marie-Tooth neuropathy Type 2B (14.48)
RAB7A (3q21)
RAB7, member RAS oncogene family



264Charcot-Marie-Tooth neuropathy Type 2F (14.52, 12.18)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



265Charcot-Marie-Tooth neuropathy Type 2H (14.53)
? - (8q21.3)

266Charcot-Marie-Tooth neuropathy Type 2L (14.57, 12.17, 4.24, 4.26)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



267Charcot-Marie-Tooth neuropathy Type 2P (14.60)
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



268Charcot-Marie-Tooth neuropathy Type 2Q (14.61)
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1(M)



269Charcot-Marie-Tooth neuropathy Type 2R (14.86)
TRIM2 (4q31.3)
Tripartite motif containing 2



270Charcot-Marie-Tooth neuropathy Type 2T (14.88, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



271Charcot-Marie-Tooth neuropathy Type 2V (14.63)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



272Charcot-Marie-Tooth neuropathy Type 2W (14.64)
HARS (5q31.3)
Histidyl-tRNA synthetase



273Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.48, 14.89)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



274Charcot-Marie-Tooth neuropathy Type 2Y (5.29, 4.19, 12.57, 1.62, 14.65)
VCP (9p13-p12)
Valosin-containing protein



275Charcot-Marie-Tooth neuropathy Type 2Z (14.66)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



276Charcot-Marie-Tooth neuropathy Type 4B3 (14.24)
SBF1 (22q13.33)
SET binding factor 1



277Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



278Charcot-Marie-Tooth neuropathy Type 4F (14.25)
SH3TC2 (5q32)
KIAA1985 protein



279Charcot-Marie-Tooth neuropathy Type 4G (14.30)
HK1 (10q22.1)
Hexokinase 1(M)



280Charcot-Marie-Tooth neuropathy Type 4H (14.31)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



281Charcot-Marie-Tooth neuropathy Type 4K (14.33)
SURF1 (9q34.2)
Surfeit 1(M)



282Charcot-Marie-Tooth neuropathy Type F (14.18)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



283Charcot-Marie-Tooth neuropathy with glomerulopathy (14.17)
INF2 (14q32-33)
Inverted formin 2



284Charcot-Marie-Tooth neuropathy X-linked 6 (14.41)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



285charcot-marie-tooth neuropathy, dominant intermediate A (
? - (10q24.1-q25.1)

286Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.15)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



287Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



288Charcot-Marie-Tooth neuropathy, X-linked (14.36, 14.44)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



289Charlevoix disease (14.120)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



290CMT recessive intermediate D (14.85)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



291CMT2 related to KIF5A (15.6, 14.72, 12.68)
KIF5A (12q13.13)
Kinesin family member 5A



292Coenzyme Q10 deficiency (13.102)
COQ5 (12q24.31)
Coenzyme Q5 Methyltransferase(M)



293Coenzyme Q10 deficiency 1 (16.72)
COQ2 (4q21.23)
Coenzyme Q2(M)



294Coenzyme Q10 deficiency 5 (16.74)
COQ9 (16q21)
Coenzyme Q9(M)



295Coenzyme Q10 deficiency 6 (16.75)
COQ6 (14q24.3)
Coenzyme Q6(M)



296Coenzyme Q10 deficiency 7 (16.76)
COQ4 (9q34.11)
Coenzyme Q4(M)



297Coenzyme Q10 deficiency 8 (16.77)
COQ7 (16p12.3)
Coenzyme Q7(M)



298COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



299Combined oxidative phosphorylation deficiency (16.85)
NSUN3 (3q11.2)
NOP2/SUN RNA Methyltransferase Family Member 3



300Combined Oxidative phosphorylation Deficiency 6 (14.39, 16.64, 13.100)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



301Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.91, 14.126, 12.10)
VRK1 (14q32)
Vaccinia related kinase 1



302Congenital amyotrophy (3.58)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



303congenital cataracts, facial dysmorphism, and neuropathy (14.125)
CTDP1 (18q23)
CTD phosphatase subunit 1



304Congenital disorder of glycosylation type 1 (2.36)
MPDU1 (17p13.1)
Mannose-P-dolichol utilization defect 1



305Congenital multi-minicore myopathy (3.59)
FXR1 (3q26.33)
FMR1 autosomal homolog



306Congenital muscle dystrophy with joint hyperlaxity (2.45)
? - (3p23-21)

307Congenital muscle dystrophy with mitochondrial structural abnormalities (2.46)
CHKB (22q13)
Choline kinase beta



308Congenital muscular dystrophy (2.47)
? - (1q42)

309Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



310Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



311Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.47, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



312Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.35)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



313Congenital muscular dystrophy with hypoglycosylation of dystroglycan (
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



314Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.44, 1.15)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



315Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.41, 1.66)
POMK (8p11.21)
Protein-O-mannose kinase



316Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39)
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)



317Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.45, 2.38)
DAG1 (3p21)
Dystroglycan1



318Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.40)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



319Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



320Congenital muscular dystrophy with merosin deficiency (2.47)
? - (1q42)

321Congenital muscular dystrophy with rigid spine related to ACTA1 (3.15, 3.3, 3.43, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



322Congenital musuclar dystrophy with telethonin defect (1.36, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



323Congenital myasthenic syndrome (11.25)
LRP4 (11p11.2)
LDL receptor related protein 4



324Congenital myasthenic syndrome (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



325Congenital myasthenic syndrome (11.42)
CHD8 (14q11.2)
Chromodomain Helicase DNA-Binding Protein 8



326Congenital myasthenic syndrome related to ALG14 (11.23)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



327Congenital myasthenic syndrome related to ALG2 (11.22)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



328Congenital Myasthenic syndrome related to GMPPB (1.48, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



329Congenital myasthenic syndrome related to MuSK (11.17, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



330Congenital myasthenic syndrome related to RPH3A (11.40)
RPH3A (12q23.3)
Rabphilin 3A



331Congenital myasthenic syndrome type 19 (11.27)
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain



332Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



333Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



334Congenital myasthenic syndrome with episodic apnea (12.26, 11.28)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



335Congenital myasthenic syndrome with intellectual disability and ataxia (11.26)
SNAP25 (20p12.2)
Synaptosome associated protein 25



336Congenital myopathy (3.68)
TNNC2 (20q13.12)
Troponin C Fast



337Congenital myopathy Compton-North (3.47)
CNTN1 (12q11-q12)
Contactin-1



338Congenital Myopathy related to PAX7 (3.60)
PAX7 (1p36.13)
Paired Box gene 7



339Congenital myopathy related to PTPLA (10.108, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



340Congenital Myopathy related to PYROXD1 (5.9, 1.64, 3.62)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



341Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



342Congenital Myopathy related to TNPO3 (1.19, 3.63)
TNPO3 (7q32.1-q32.2)
Transportin 3



343Congenital myopathy with fatal cardiomyopathy (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



344Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.50)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



345congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.46, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



346CPT deficiency, hepatic, type II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



347CPVT5 (10.119)
TRDN (6q22.31)
Triadin



348CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



349CRASH syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



350Creatine phosphokinase, elevated serum (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



351Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



352Danon disease (5.15)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



353Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45)
EYA4 (6q23-24)
Eyes absent 4



354Dejerine-Sottas neuropathy, autosomal recessive (14.29, 14.45)
PRX (19q13)
Periaxin



355Dejerine-Sottas syndrome (14.2, 14.43, 14.54, 14.55, 14.28, 14.16)
MPZ (1q22)
Myelin protein zero



356Dejerine-Sottas syndrome (14.4, 14.27, 14.44)
EGR2 (10q21.1)
Early growth response 2 protein



357Dejerine-Sottas Syndrome (14.1, 14.42, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



358Desmin-related myopathy (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



359Desmin-related myopathy with Mallory bodies (2.13, 5.12, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



360Dilated cardiomyopathy realted to GATAD1 (10.79)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



361Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



362Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.74)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



363Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



364Dilated Cardiomyopathy related to DOLK (10.84)
DOLK (9q34.13)
Dolichol kinase



365Dilated cardiomyopathy related to integrin-linked kinase (10.76)
ILK (11p15.5-p15.4)
Integrin-linked kinase



366Dilated cardiomyopathy related to laminin-alpha4 (10.71)
LAMA4 (6q21)
Laminin alpha 4



367Dilated cardiomyopathy related to MURC (10.83)
MURC (9q31.1)
Muscle-related coiled-coil protein



368Dilated cardiomyopathy related to MYBPC3 (10.4, 3.46, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



369Dilated cardiomyopathy related to nesprin-1 (1.6, 13.63, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



370Dilated cardiomyopathy related to PRDM16 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



371Dilated cardiomyopathy related to RAF1 (10.75)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



372dilated cardiomyopathy, 1aa (10.62, 10.24, 3.56, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



373Dilated cardiomyopathy, 1F (
? - (6q23)

374Dilated cardiomyopathy, 1I (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



375Dilated Cardiomyopathy, 1L (1.35, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



376Dilated cardiomyopathy, 1N (1.36, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



377Dilated cardiomyopathy, related to DSG2 (10.111, 10.63)
DSG2 (18q12.1)
Desmoglein 2



378Distal hereditary motor neuronopathy (14.81, 12.15)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



379Distal hereditary motor neuropathies (14.13, 12.39)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



380Distal motor neuropathy (12.38)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



381Distal motor neuropathy related to SYT2 (11.14, 12.37, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



382Distal Myopathy (4.28)
PLIN4 (19p13.3)
Perilipin 4



383Distal myopathy related to caveolin (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



384Distal myopathy with nebulin defect (3.2, 4.11, 4.12)
NEB (2q22)
Nebulin



385Distal Myopathy with protein inclusions (4.27)
SMPX (Xp22.12)
Small Muscle Protein, X-linked



386Distal Spinal Muscular Atrophy with Calf Predominance (12.20)
FBXO38 (5q32)
F-box protein 38



387Distal spinal muscular atrophy, type VB (15.12, 12.23)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



388Dominant distal hereditary motor neuropathy (12.24, 14.58)
AARS (16q22.1)
Alanyl-tRNA synthetase



389Duchenne muscular dystrophy (1.1, 10.81)
DMD (Xp21.2)
Dystrophin



390Dusty core disease related to RYR1 (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



391Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.69)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)



392Dysmyelinating leukodystrophy (15.40)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



393Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



394Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



395Early onset axonal neuropathy with sensory ataxia (14.73)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



396Early onset distal myopathy with KLHL9 mutations (4.17)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



397Early onset myopathy, areflexia, respiratory distress and dysphagia (3.35, 3.34)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



398Early onset of mitochondrial myopathy (16.71)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)



399Early-onset axonal Charcot-Marie-Tooth with ataxia (14.78, 14.90)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



400Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.64, 3.62)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



401Emery-Dreifuss Autosomal recessive (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



402Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



403Emery-dreifuss muscular dystrophy 4 (1.6, 13.63, 16.21, 10.82)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



404Emery-dreifuss muscular dystrophy 6 (1.3, 5.25, 5.26, 5.27)
FHL1 (Xq26.3)
Four and a half LIM domain 1



405Emery-dreifuss muscular dystrophy 7 (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



406Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



407Endocardial fibroelastosis-2 (10.80, 10.91)
TAZ (Xq28)
Tafazzin



408Enolase deficiency (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



409Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.21, 1.46, 11.36, 1.63)
PLEC (8q24.3)
Plectin



410episodic ataxia type 5, included (13.47)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



411episodic ataxia type 6 (13.48)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



412episodic ataxia type-3 (13.46)
? - (1q42)

413episodic ataxia type-7 (13.49)
? - (19q13)

414Episodic ataxia with myokymia (7.12)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



415Episodic 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



416episodic muscle weakness, x-linked (5.28)
? - (Xp22.3)

417Episodic pain syndrome, familial 3 (14.107, 14.117)
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



418Erythrocyte lactate transporter defect (9.17)
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



419Erythromelalgia, Primary (14.102, 14.116)
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



420Escobar syndrome (multiple pterygium syndrome) (11.35)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



421Exertional myoglobinuria due to deficiency of LDH-A (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



422Facio-scapulo-humeral muscular dystrophy (1.12)
LRIF1 (1p13.3)
Ligand-Dependent Nuclear Receptor-Interacting Factor 1



423Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



424Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



425Familial amyotrophic lateral sclerosis (4.5, 12.64)
MATR3 (5q31)
Matrin 3



426Familial brachial plexus neuropathy (14.122)
SEPT9 (17q25)
Septin 9



427Familial dysautonomia (Riley-Day syndrome) (16.3, 14.103)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



428Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61)
TNNC1 (3p21.3-p14.3)
Slow troponin C



429Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.176)
MYH6 (14q12)
Myosin heavy chain 6



430Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



431Familial limb girdle myasthenia related to agrin (11.16, 16.31)
AGRN (1p36.33)
Agrin



432Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



433Familial limb-girdle myasthenia related to DOK7 (11.18, 16.27)
DOK7 (4p16.2)
Docking protein 7



434familial sinusal bradycardia (10.174, 10.171)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



435Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



436Fatty aldehyde dehydrogenase (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



437Fetal akinesia deformation related to AGRN (11.16, 16.31)
AGRN (1p36.33)
Agrin



438Fetal akinesia deformation sequance with MUSK defect (11.17, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



439Fetal akinesia deformation sequence 2 (11.19, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



440Fetal akinesia deformation sequence 3 (11.18, 16.27)
DOK7 (4p16.2)
Docking protein 7



441Fetal akinesia deformation sequence 4 (16.29)
NUP88 (17p13.2)
Nucleoporin 88kD



442Fetal akinesia deformation sequence related to RYR1 (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



443Fibrodysplasia ossificans progressiva (5.23)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



444Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



445Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



446Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24.3)
Tubulin, beta 3



447Fibrosis of extraocular muscles, congenital, 5 (16.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



448Friedreich ataxia (13.53)
FXN (9q13-q21.1)
Frataxin(M)



449friedreich ataxia 2 (13.54)
? - (9p23-p11)

450Friedreich ataxia with retained reflexes (13.53)
FXN (9q13-q21.1)
Frataxin(M)



451fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.42)
FKTN (9q31-q33)
Fukutin



452Galloway-Mowat syndrome 1 (13.60)
WDR73 (15q24-q26)
WD Repeat-Containing Protein 73



453Giant axonal neuropathy 2 (14.124)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



454Giant axonal neuropathy-1 (14.123)
GAN1 (16q23.2)
Gigaxonin



455Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



456Glycogen storage disease II (9.1, 10.90, 1.59)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



457Glycogen storage disease IIb (5.15)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



458glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



459glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



460Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



461Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



462Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



463Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



464Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



465Glycogen storage disease X (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



466Glycogen storage disease XI (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



467Glycogen storage disease XIII (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



468Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



469Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



470glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



471GOLGA2-related congenital muscle dystrophy with brain involvement (2.49)
GOLGA2 (9q34.113)
Golgin A2



472Hereditary bundle branch system defect (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



473Hereditary motor and sensory neuropathy – Lom (with deafness) (14.26)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



474Hereditary motor and sensory neuropathy 2A (14.47, 14.76, 14.71)
MFN2 (1p36.22)
Mitofusin 2(M)



475Hereditary motor and sensory neuropathy V (12.28)
? - (4q34.3-q35.2)

476Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.47, 14.76, 14.71)
MFN2 (1p36.22)
Mitofusin 2(M)



477Hereditary motor and sensory, neuropathy, proximal, type (14.70, 15.56)
TFG (3q13)
TRK-fused gene



478Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



479Hereditary myopathy with early respiratory failure (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



480Hereditary peripheral neuropathy (14.129)
SLC9A3R1 (17q25.1)
Solute carrier family 9, member 3, regulator 1



481hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.98)
? - (3p24-p22)

482Hereditary sensory and autonomic neuropathy type IV (14.104)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



483Hereditary sensory and autonomic neuropathy type VI (14.106)
DST (6p12.1)
Dystonin



484Hereditary sensory and autonomic neuropathy type VIII (14.108)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



485Hereditary sensory neuropathy type IF (14.111)
ATL3 (11q13.1)
atlastin GTPase 3



486Hereditary sensory neuropathy with dementia and hearing loss (14.110)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



487Hereditary sensory neuropathy, type IIB (14.101)
RETREG1 (5p15.1)
Family with sequence similarity 134 member B



488Hutchinson-Gilford progeria syndrome (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



489Hydrocephalus with Hirschspung disease and cleft palate (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



490Hyperckemia, idiopathic (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



491Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



492Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



493Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



494Hypertrophic cardiomyopathy related to actinin-2 (10.62, 10.24, 3.56, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



495Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.77, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



496Hypertrophic cardiomyopathy related to cardiac myopalladin (10.72, 3.11, 10.23, 10.88)
MYPN (10q21.1)
Myopalladin



497Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



498Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



499Hypertrophic cardiomyopathy related to nexilin (10.64, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



500Hypertrophic cardiomyopathy related to phospholamban (10.51, 10.19)
PLN (6q22.1)
Phospholamban



501Hypertrophic cardiomyopathy related to TCAP (1.36, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



502Hypertrophic cardiomyopathy related to ZASP (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



503Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.36)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



504Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.32)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



505Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



506Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



507Hypokalaemic periodic paralysis (7.11, 10.169)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



508Hypokalaemic periodic paralysis (7.5)
ATP1A2 (1q23.2)
ATPase, NA+/K+ transporting alpha-2 polypeptide



509Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.50)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



510Hypokalemic periodic paralysis (7.8, 8.5, 3.50)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



511Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.29, 4.19, 12.57, 1.62, 14.65)
VCP (9p13-p12)
Valosin-containing protein



512Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.30)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



513Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.29, 4.19, 12.57, 1.62, 14.65)
VCP (9p13-p12)
Valosin-containing protein



514Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



515Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



516Infantile-onset multisystem disease with progressive muscle weakness (16.68)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2(M)



517Isolated inclusion body myopathy (3.40, 12.63)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



518Jervell and Lange-Nielsen cardio-auditory syndrome (10.127, 10.144)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



519jervell and lange-nielsen syndrome (10.143, 10.123, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



520Kennedy disease (12.40)
AR (Xq11.2-q12)
Androgen receptor



521Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



522Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



523LAP1B related muscular dystrophy (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



524Late onset spinal muscular atrophy related to HEXB (12.95)
HEXB (5q13.3)
Hexosaminidase B



525late-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)



526Left ventricular noncompaction 10 (10.4, 3.46, 10.74, 10.101)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



527Left ventricular noncompaction 2 (10.93)
? - (11q15)

528Left ventricular noncompaction 3 (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



529Left ventricular noncompaction 4 (3.15, 3.3, 3.43, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



530Left ventricular noncompaction 5 (4.4, 3.36, 10.54, 3.38, 3.19, 10.96, 3.64, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



531Left ventricular noncompaction 6 (10.2, 10.40, 10.87, 10.97)
TNNT2 (1q32)
Troponin T2, cardiac



532Left ventricular noncompaction 7 (10.98)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



533LEFT VENTRICULAR NONCOMPACTION 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



534Left ventricular noncompaction 8 (10.73, 10.99)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



535Left ventricular noncompaction 9 (10.3, 10.60, 10.100)
TPM1 (15q22)
Tropomyosin 1 (alpha)



536Left ventricular noncompaction with congenital heart defects (10.92)
DTNA (18q12)
Dystrobrevin, alpha



537Left ventricular noncompaction, familial isolated (10.92)
DTNA (18q12)
Dystrobrevin, alpha



538Lethal congenital contractural syndrome 3 (12.80)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



539Lethal congenital contracture syndrome 1 (12.78)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



540Lethal Congenital Contracture Syndrome 10 (12.87)
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9



541Lethal Congenital Contracture Syndrome 11 (12.88)
GLDN (15q21.2)
Gliomedin



542Lethal congenital contracture syndrome 2 (12.79)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



543Lethal Congenital Contracture Syndrome 4 (16.10, 12.81)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



544Lethal Congenital Contracture Syndrome 5 (3.23, 2.15, 4.16, 14.14, 12.82)
DNM2 (19p13.2)
Dynamin 2



545Lethal Congenital Contracture Syndrome 6 (12.83)
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42



546Lethal congenital contracture syndrome 7 (12.84, 14.35)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



547Lethal Congenital Contracture Syndrome 8 (12.85)
ADCY6 (12q13.12)
Adenylate cyclase 6



548Lethal Congenital Contracture Syndrome 9 (12.86)
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6



549Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



550Leukodystrophy with ataxia and sensorineural deafness (13.99)
RNF220 (1p34.1)
Ring finger protein 220



551LGMD related to KBTBD13 (3.6, 1.65)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



552LGMD related to PYROXD1 (5.9, 1.64, 3.62)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



553LGMDD1 (1.18, 4.22, 4.23)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



554LGMDD4 (1.30, 1.21)
CAPN3 (15q15.1-q21.1)
Calpain 3



555LGMDD5 (2.2, 2.6, 1.51, 1.22)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



556LGMDD5 (2.5, 2.7, 2.12, 1.52, 1.23)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



557LGMDD5 (2.8, 2.4, 1.53, 1.24)
COL6A3 (2q37)
Alpha 3 type VI collagen



558LGMDR10 (Formerly LGMD2J) (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



559LGMDR20 (2.24, 1.49)
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



560LGMDR22 (2.2, 2.6, 1.51, 1.22)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



561LGMDR22 (2.5, 2.7, 2.12, 1.52, 1.23)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



562LGMDR22 (2.8, 2.4, 1.53, 1.24)
COL6A3 (2q37)
Alpha 3 type VI collagen



563LGMDR23 (2.1, 1.54)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



564LGMDR24 (2.25, 1.55)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



565LGMDR26 (1.57)
POPDC3 (6q21)
Popeye domain-containing protein 3



566Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



567Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.26, 4.2, 1.39, 10.42, 10.8, 3.45, 3.33, 12.89)
TTN (2q31)
Titin



568Limb girdle muscular dystrophy with ophthalmoplegia (5.21, 1.46, 11.36, 1.63)
PLEC (8q24.3)
Plectin



569Limb-Girdle, Muscular dystrophy, type 1G (1.20)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



570Limb-girdle, muscular dystrophy, type 1h (1.29)
? - (3p23-p25)

571Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.59, 1.42)
FKTN (9q31-q33)
Fukutin



572Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.43)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



573Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.44)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



574Limb-girdle, muscular dystrophy, type 2q (5.21, 1.46, 11.36, 1.63)
PLEC (8q24.3)
Plectin



575Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



576Limb-Girdle, Muscular dystrophy, type 2S (1.47, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



577Limb-Girdle, Muscular dystrophy, type 2T (1.48, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



578Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.90, 1.59)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



579Limb-Girdle, Muscular dystrophy, type 2W (1.60)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



580Limb-Girdle, Muscular dystrophy, type 2X (1.56)
BVES (6q21)
Blood vessel epicardial substance



581Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



582Limb-Girdle, Muscular dystrophy, type 2Z (1.50)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



583Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



584lipodystrophy, congenital generalized, type 4 (1.13)
CAVIN1 (17q21-q2)
Caveolae-associated protein 1(M)



585Lipodystrophy, familial partial, type 2 (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



586Long QT syndrome 10 (10.133, 10.162)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



587Long QT syndrome 11 (10.134)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



588Long QT syndrome 12 (10.135)
SNTA1 (20q11.21)
Syntrophin, alpha 1



589Long QT syndrome 13 (10.130, 10.136)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



590Long QT syndrome 14 (10.118, 10.137)
CALM1 (14q32.11)
Calmodulin 1



591Long QT syndrome 15 (10.138)
CALM2 (2p21)
Calmodulin 2



592Long QT syndrome 16 (10.139, 10.122)
CALM3 (19q13.32)
Calmodulin 3



593Long QT syndrome 9 (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



594Long QT syndrome-1 (10.143, 10.123, 10.147, 10.141)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



595Long QT syndrome-2 (10.124, 10.140)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



596Long QT syndrome-3 (10.125, 10.41, 10.164, 10.175, 10.154)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



597Long QT syndrome-4 (10.126)
ANK2 (4q25-26)
Ankyrin 2



598Long QT syndrome-5 (10.127, 10.144)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



599Long QT syndrome-6 (10.128, 10.148)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



600Long QT syndrome-7 (10.142, 10.153, 10.129)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



601Lower motor neuron disease with respiratory failure related to MAPT (12.99)
MAPT (17q21.31 )
Microtubule associated protein Tau



602luma related muscular dystrophy (10.107, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



603Lysosomal storage myopathy (3.67)
MCOLN1 (19p13.2)
Mucopilin 1



604Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



605Malignant hyperthermia susceptibility 1 (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



606Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

607Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

608Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

609Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.50)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



610Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

611Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



612Marinesco-Sjogren syndrome (13.89)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



613Marssili syndrome (insensitivity to pain, congenital, AD) (14.115)
ZFHX2 (14q11.2)
Zinc finger homeobox 2



614MASA syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



615McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



616MELAS-like syndrome (16.66)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



617Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



618minicore myopathy with external ophthalmoplegia (8.1, 3.30, 3.31, 3.44, 3.25, 3.18, 5.32, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



619Mitochondrial complex 1 deficiency, nuclear type 11 (10.29)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



620Mitochondrial complex I deficiency, nuclear type 29 (16.80)
TMEM126B (11q14.1)
Transmembrane protein 126B(M)



621Mitochondrial complex IV deficiency (16.67)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)



622Mitochondrial complex IV deficiency (16.87)
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16



623Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.44)
TYMP (22q13.33)
Thymidine phosphorylase



624Mitochondrial DNA depletion syndrome 11 (16.53)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)



625Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



626Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



627Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.56)
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



628Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.59, 16.57)
OPA1 (3q28-q29)
optic atrophy 1(M)



629Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.42, 16.46)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



630Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.33, 13.90, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



631Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.33, 13.90, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



632Mitochondrial 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)



633Mitochondrial 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)



634Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.52)
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)



635Mitochondrial dna depletion syndrome, myopathic form (16.45, 13.28, 16.41)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



636Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.31)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



637Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.34)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



638Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.33)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



639Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.30)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



640Mitochondrial myopathy (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



641Mitochondrial myopathy and sideroblastic anemia 1 (16.60)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



642Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.81)
APOO (Xp22.11)
Apolipoprotein O(M)



643Mitochondrial myopathy with severe neurological manifestations (16.65)
TMEM65 (8q24.13)
Transmembrane Protein 65



644Mitochondrial neurogastrointestinal encephalomyopathy (16.86)
LIG3 (17q12)
Ligase III DNA ATP-Dependent



645Miyoshi muscular dystrophy 3 (1.41, 4.15, 1.16)
ANO5 (11p14-12)
Anoctamin 5



646Miyoshi myopathy (4.1, 1.31)
DYSF (2p12-14)
Dysferlin



647Motor neuropathy, distal, with vocal cord paralysis (12.26, 11.28)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



648Multiminicore disease, classical form (2.13, 5.12, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



649Multiple acyl-coa dehydrogenase deficiency (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



650Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



651Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



652Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



653Multisystem proteinopathy (12.66, 12.102)
ANXA11 (10q23.3)
Annexin A11



654Muscle dystrophy with congenital disorder of glycosylation (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



655Muscle dystrophy with congenital disorder of glycosylation, type Io (1.61)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



656Muscle hypertrophy (5.22)
MSTN (2q32.2)
Myostatin



657Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.33, 5.39)
STIM1 (11p15.4)
Stromal interaction molecule 1



658Muscle-eye-brain disease (1.48, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



659Muscle-eye-brain disease (2.33, 1.38, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



660Muscle-eye-brain disease (2.21, 2.29, 1.43)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



661Muscular dystrophy (1.14)
JAG2 (14q32.33)
Jagged 2



662Muscular dystrophy (2.44, 1.15)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



663Muscular dystrophy with gnathodiaphyseal dysplasia (1.41, 4.15, 1.16)
ANO5 (11p14-12)
Anoctamin 5



664Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.17)
GGPS1 (1q42.3)
Geranylgeranyl Diphosphate Synthase 1



665Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.55)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



666Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.43)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



667Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.44)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



668Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.40, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



669Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33, 1.38, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



671Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (
ISPD (7p21.2)
Isoprenoid synthase domain containing



672Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.59, 1.42)
FKTN (9q31-q33)
Fukutin



673Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.44)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



674Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



675Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.33, 1.38, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



676Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.59, 1.42)
FKTN (9q31-q33)
Fukutin



677Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.45, 2.38)
DAG1 (3p21)
Dystroglycan1



678Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.41, 1.66)
POMK (8p11.21)
Protein-O-mannose kinase



679Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.20, 1.40, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



680Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.9)
? - (19p13)

681Muscular dystrophy, congenital Davignon-Chauveau type (2.50, 12.11)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



682Muscular dystrophy, congenital merosin-deficient (2.1, 1.54)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



683Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



684Muscular dystrophy, congenital, with cataracts and intellectual disability (2.51)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



685Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



686Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.41, 4.15, 1.16)
ANO5 (11p14-12)
Anoctamin 5



687Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.27, 2.23, 1.44)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



688Muscular dystrophy, Limb-Girdle, type 1A (1.25, 5.3, 5.4, 4.10, )
MYOT (5q31)
Myotilin



689Muscular dystrophy, limb-girdle, type 1B (1.4, 1.26, 1.5, 10.37, 2.17, 14.77)
LMNA (1q22)
Lamin A/C



690Muscular dystrophy, Limb-Girdle, Type 1F (1.19, 3.63)
TNPO3 (7q32.1-q32.2)
Transportin 3



691Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

692Muscular dystrophy, limb-girdle, type 2A (1.30, 1.21)
CAPN3 (15q15.1-q21.1)
Calpain 3



693Muscular dystrophy, limb-girdle, type 2B (4.1, 1.31)
DYSF (2p12-14)
Dysferlin



694Muscular dystrophy, limb-girdle, type 2C (1.34)
SGCG (13q12)
Gamma sarcoglycan



695Muscular dystrophy, limb-girdle, type 2D (1.32)
SGCA (17q21)
Alpha sarcoglycan



696Muscular dystrophy, limb-girdle, type 2E (1.33)
SGCB (4q12)
Beta sarcoglycan



697Muscular dystrophy, limb-girdle, type 2F (1.35, 10.47)
SGCD (5q33-q34)
Delta-sarcoglycan



698Muscular dystrophy, limb-girdle, type 2G (1.36, 10.49, 2.16, 10.26)
TCAP (17q12)
Telethonin



699Muscular dystrophy, limb-girdle, type 2H (1.37, 3.48)
TRIM32 (9q33.2)
Tripartite motif-containing 32



700Muscular dystrophy, limb-girdle, type 2I (2.33, 1.38, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



701Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.40, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



702Muscular dystrophy, limb-girdle, type IC (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16)
CAV3 (3p25.3)
Caveolin 3



703Muscular dystrophy, rigid spine, 1 (2.13, 5.12, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



704Myasthenia gravis, autosomal recessive (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



705Myasthenia gravis, familial infantile (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



706Myasthenia gravis, familial infantile, 2 (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



707Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.61, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



708Myasthenic syndrome, congenital (11.19, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



709Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



710Myasthenic syndrome, congenital, 22 (11.30)
PREPL (2p21)
Prolyl endopeptidase-like



711Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



712Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.37, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



713Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.34)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



714Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



715Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



716Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



717Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



718Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.37, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



719Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



720Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



721Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



722Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



723Myasthenic syndrome, with plectin defect (5.21, 1.46, 11.36, 1.63)
PLEC (8q24.3)
Plectin



724Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



725Myofibrillar myopathy 1 (5.1, 1.28, 10.44, 1.58, 5.14, 10.121)
DES (2q35)
Desmin



726Myofibrillar myopathy 10 (5.11)
SVIL (10p11.23)
Supervillin



727myofibrillar myopathy with bag3 defect (5.7, 10.69, 14.74)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



728myofibrillar myopathy ZASP-related (5.5, 10.39, 4.14, 10.25, 10.94)
LDB3 (10q22)
LIM domain binding 3



729Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.70)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



730Myofibrillar myopathy, myotilin related (1.25, 5.3, 5.4, 4.10, )
MYOT (5q31)
Myotilin



731Myopathy centronuclear, 1 (3.23, 2.15, 4.16, 14.14, 12.82)
DNM2 (19p13.2)
Dynamin 2



732Myopathy congenital related to ACTN2 (10.62, 10.24, 3.56, 4.25)
ACTN2 (1q42-q43)
Actinin alpha2



733Myopathy congenital with fast twitch (type II) fiber atrophy (3.57)
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast



734Myopathy congenital, with fiber-type disproportion (3.39)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



735Myopathy due to CPT II deficiency (9.18)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



736Myopathy due to phosphoglycerate mutase deficiency (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



737Myopathy microfibrillar type 7 (5.8)
KY (3q22.2)
Kyphoscoliosis peptidase



738Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.39)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



739Myopathy with characteristic sarcoplasmic inclusions (5.36)
MB (22q12.3)
Myoglobin



740myopathy with deficiency of succinate dehydrogenase and aconitase (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



741myopathy with exercise intolerance, swedish type (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



742Myopathy with extrapyramidal signs (5.37)
MICU1 (10q22.1)
Mitochondrial Calcium Uptake Protein 1



743Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.39)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



744myopathy with lactic acidosis, hereditary (5.31)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



745Myopathy with nemaline bodies (3.13)
RYR3 (15q13-q14)
Ryanodine receptor 3