Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.120)
CLTCL1 (22q11.21)
Clathrin, heavy polypeptide-like 1



2Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.54, 7.10, 13.48)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



3Acyl-CoA dehydrogenase (very long chain) deficiency (9.28)
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)



4Adult onset distal myopathy (
5Agenesis of the corpus callosum with peripheral neuropathy (14.126)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



6Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.83)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



7Amyotrophic lateral sclerosis (12.56)
? - (18q21)

8Amyotrophic lateral sclerosis (12.61, 12.44)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



9Amyotrophic lateral sclerosis (12.60)
? - (20p13)

10Amyotrophic lateral sclerosis (12.59)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



11Amyotrophic lateral sclerosis (12.89)
LRP10 (14q11.2)
Low Density Lipoprotein Receptor-Related Protein 10



12Amyotrophic lateral sclerosis (14.102, 12.80)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



13Amyotrophic lateral sclerosis 1 (12.53, 12.54)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.63, 4.29)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.33, 12.64)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.65)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.66)
ATXN2 (12q24.12)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.37, 4.22, 12.67, 1.56, 14.66)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.68)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.69)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.70)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.71)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 19 (12.72)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



24Amyotrophic lateral sclerosis 20 (4.7, 12.73, 3.35)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



25Amyotrophic lateral sclerosis 22 (12.75)
TUBA4A (2q35)
Tubulin, Alpha-4A



26Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.73, 12.78)
KIF5A (12q13.13)
Kinesin family member 5A



27Amyotrophic lateral sclerosis 28 (5.23, 12.81)
LRP12 (8q22.3)
Low density lipoprotein receptor-related protein 12



28Amyotrophic lateral sclerosis 5 (15.27, 12.58, 14.93)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



29amyotrophic lateral sclerosis 9 (12.62)
ANG (14q11.2)
Angiogenin



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.45, 12.86, 16.24)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



31Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.85, 12.117)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



32Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.87, 4.23, 4.15)
SQSTM1 (5q35.3)
Sequestosome 1



33Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.88)
TBK1 (12q14.2)
Tank-binding kinase 1



34Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.53, 12.54)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



35Amyotrophic lateral sclerosis, juvenile (12.55, 15.84)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



36Amyotrophic lateral sclerosis, susceptibility to, 24 (12.77)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



37Amytrophic lateral sclerosis 23 (12.76, 12.113)
ANXA11 (10q23.3)
Annexin A11



38Andermann syndrome (14.126)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



39Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.152, 10.148)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



40Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.155, 10.166, 10.142)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



41Arrhythmogenic right ventricular cardiomyopathy 2 (10.116, 10.128)
RYR2 (1q43)
Ryanodine receptor 2



42Arrhythmogenic right ventricular cardiomyopathy 3 (10.117)
? - (14q12-q22)

43Arrhythmogenic right ventricular cardiomyopathy 4 (10.118)
? - (2q32.1-q32.3)

44Arrhythmogenic right ventricular cardiomyopathy 6 (10.120, 3.43)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



45Arrhythmogenic right ventricular dysplasia 2 (10.116, 10.128)
RYR2 (1q43)
Ryanodine receptor 2



46Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



47Arrhythmogenic right ventricular dysplasia-3 (10.117)
? - (14q12-q22)

48Arrhythmogenic right ventricular dysplasia, 1 (10.115)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



49Arrhythmogenic right ventricular dysplasia, 10 (10.123, 10.65)
DSG2 (18q12.1)
Desmoglein 2



50Arrhythmogenic right ventricular dysplasia, 11 (10.124)
DSC2 (18q12.1)
Desmocollin 2



51Arrhythmogenic right ventricular dysplasia, 8 (10.121)
DSP (6p24.3)
Desmoplakin



52Arrhythmogenic right ventricular dysplasia, 9 (10.122)
PKP2 (12p11.21)
Plakophilin 2



53Arrhythmogenic right ventricular dysplasia, familial, 1 (10.115)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



54arrhythmogenic right ventricular dysplasia, familial, 12 (10.134, 10.125)
JUP (17q21.2)
Junction plakoglobin



55Arrhythmogenic right ventricular dysplasia, familial, 13 (10.126)
CTNNA3 (10q21.3)
Catenin alpha 3



56Arrhythmogenic right ventricular dysplasia, familial, 14 (10.127)
CDH2 (18q12.1)
Cadherin 2



57Arrhythmogenic right ventricular dysplasia, familial, 4 (10.118)
? - (2q32.1-q32.3)

58arrhythmogenic right ventricular dysplasia, familial, 5 (10.119, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



59Arrhythmogenic right ventricular dysplasia, familial, 6 (10.120, 3.43)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



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

61Arthrogryposis and BICD2-related neuromuscular disease (12.42, 12.43, 17.24)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



62Arthrogryposis multiplex congenita 7, X-linked (17.26)
THOC2 (Xq25)
Tho complex, subunit 2



63Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.68, 17.23, 10.92)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



64Arthrogryposis related to ASCC1 (12.17, 17.25)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



65Arthrogryposis, distal type 11 (17.21)
MET (7q31.2)
MET protooncogene



66Arthrogryposis, distal type 12 (17.22)
ADAMTS15 (11q24.3)
A disintegin-like and metalloproteinase with thrombospondin type 1 motif 15



67Arthrogryposis, distal, type 1B (17.10, 12.93, 3.55)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



68Arthrogryposis, distal, type 3 (17.16, 17.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



69Arthrogryposis, distal, type 5 (17.16, 17.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



70Arthrogryposis, distal, type 10 (17.20)
? - (2q31.3-q32.1 )

71Arthrogryposis, distal, type 1A (3.6, 3.36, 17.9, 17.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



72Arthrogryposis, distal, type 2A (17.11, 17.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



73arthrogryposis, distal, type 2B (3.6, 3.36, 17.9, 17.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



74Arthrogryposis, distal, type 2B (17.12)
TNNI2 (11p15.5)
Troponin I, type 2



75Arthrogryposis, distal, type 2B (17.13, 3.16)
TNNT3 (11p15.5)
Troponin T3, skeletal



76Arthrogryposis, distal, type 2B (17.11, 17.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



77Arthrogryposis, distal, type 5D (17.18)
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1



78Asymmetric septal hypertrophy (10.55, 10.10, 10.107)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



79ataxia telangiectasia (13.99)
ATM (11q22.3)
Ataxia telangiectasia mutated



80ataxia telangiectasia-like disorder (13.100)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



81Ataxia telangiectasia-like disorder 2 (13.101)
PCNA (20p12.3)
Proloferating cell nuclear antigen



82Ataxia with isolated vitamin E deficiency (13.59)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



83Ataxia-pancytopenia syndrome (13.56, 13.45)
SAMD9L (7q21.2)
Sterile Alpha Motif Domain-Containing Protein 9-Like



84Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.61)
APTX (9p13.3)
Aprataxin



85Ataxia, Friedreich-like, with selective vitamin E deficiency (13.59)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



86Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.119)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



87ataxia, spastic, 1, autosomal dominant (15.91, 11.33)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)(M)



88ataxia, spastic, 2, autosomal recessive (15.92)
KIF1C (17p13.2)
kinesin family member 1C



89ATFB18 (10.175)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



90atrial fibillation, familial, 8 (10.165)
? - (16q22)

91Atrial fibrillation , 12 (10.52, 10.169, 5.48)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



92Atrial fibrillation, 1 (10.158)
? - (10q22-q24)

93Atrial fibrillation, 10 (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



94Atrial fibrillation, 13 (10.181, 10.170)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



95Atrial fibrillation, 14 (10.171)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



96Atrial fibrillation, 15 (10.172)
NUP155 (5p13.2)
Nucleoporin 155 kDa



97Atrial fibrillation, 16 (10.183, 10.173)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



98Atrial fibrillation, 17 (10.145, 10.174)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



99Atrial fibrillation, 2 (10.159)
? - (10q22-q24)

100Atrial fibrillation, 3 (10.156, 10.136, 10.160, 10.154)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



101Atrial fibrillation, 4 (10.141, 10.161)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



102Atrial fibrillation, 9 (10.155, 10.166, 10.142)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



103atrial fibrillation, familial (10.164)
KCNA5 (12p13.32)
Potassium voltage-gated channel, shaker-related subfamily, member 5



104atrial fibrillation, familial, 1 (10.168, 10.176)
GJA5 (1q21.1)
Connexin 40



105atrial fibrillation, familial, 5 (10.162)
? - (4q25)

106atrial fibrillation, familial, 6 (10.163)
NPPA (1p36.22)
Natriuretic peptide precursor A



107Autophagic vacuolar myopathy (5.20)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



108Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



109Autosomal recessive CMT axonal type 2S (12.5, 14.91)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



110Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.84)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



111Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.96, 13.102, 14.97)
SACS (13q12)
Sacsin



112autosomal recessive spastic ataxia with leukoencephalopathy (15.93)
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)



113Autosomal recessive spinocerebellar ataxia, 2 (13.62)
PMPCA (9q34.3)
Mitochondrial processing peptidase-alpha, KIAA0123(M)



114Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.69, 17.49)
ADCK3 (1q42.13)
Coenzyme Q8A



115Axonal neuropathy intermediate recessive C (12.8, 14.88)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



116Axonal neuropathy recessive (14.87)
KARS (16q23.1)
Lysyl-tRNA synthetase



117Barth syndrome (10.90, 10.103)
TAZ (Xq28)
Tafazzin



118Becker muscular distrophy (1.1, 10.91)
DMD (Xp21.2)
Dystrophin



119Bethlem myopathy (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



120Bethlem myopathy (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



121Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



122Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



123Brody disease (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



124Brown-Vialetto-Van Laere syndrome 1 (12.105)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



125Brown-Vialetto-Van Laere syndrome 2 (12.106)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



126Brugada syndrome (10.186)
TMEM168 (7q31.1 )
Transmembrane protein 168



127Brugada syndrome 1 (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



128brugada syndrome 2 (10.178)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



129brugada syndrome 3 (10.143, 10.179)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



130brugada syndrome 4 (10.180)
CACNB2 (10p12.33-p12.31 )
Calcium channel, voltage-dependent, beta 2 subunit



131Brugada syndrome 5 (10.181, 10.170)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



132Brugada syndrome 6 (7.11, 10.182)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



133Brugada syndrome 7 (10.183, 10.173)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



134Brugada syndrome 8 (10.188, 10.184)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



135Brugada syndrome 9 (13.17, 10.185)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



136Cap myopathy, TPM2-related, included (3.6, 3.36, 17.9, 17.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



137Cardiac and skeletal aggregate myopathy (5.14)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



138Cardiac and skeletal aggregate myopathy (5.14)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



139Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132)
TRDN (6q22.31)
Triadin



140Cardiac conduction defect, progressive (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



141cardiac valvular dysplasia, x-linked (10.114)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



142Cardimyopathy, dilated, 1A (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



143Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



144cardiomyopathy, dilated 1C (5.5, 10.41, 4.19, 10.26, 10.106)
LDB3 (10q22)
LIM domain binding 3



145Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



146Cardiomyopathy, dilated, 1CC (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



147Cardiomyopathy, dilated, 1D (10.2, 10.42, 10.98, 10.109)
TNNT2 (1q32)
Troponin T2, cardiac



148Cardiomyopathy, dilated, 1DD (10.67)
RBM20 (10q25.3)
RNA binding motif protein 20



149Cardiomyopathy, dilated, 1E (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



150Cardiomyopathy, dilated, 1EE (10.1, 10.68, 10.13, 10.189)
MYH6 (14q12)
Myosin heavy chain 6



151Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.81, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



152Cardiomyopathy, dilated, 1G (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



153Cardiomyopathy, dilated, 1GG (10.70)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



154Cardiomyopathy, dilated, 1H (10.45)
? - (2q14-q22)

155Cardiomyopathy, dilated, 1J (10.47)
EYA4 (6q23-24)
Eyes absent 4



156Cardiomyopathy, dilated, 1K (10.48)
? - (6q12-q16)

157Cardiomyopathy, dilated, 1M (10.50, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



158Cardiomyopathy, dilated, 1O (10.52, 10.169, 5.48)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



159Cardiomyopathy, dilated, 1P (10.53, 10.19)
PLN (6q22.1)
Phospholamban



160Cardiomyopathy, dilated, 1Q (10.54)
? - (7q22.3-q31.1)

161Cardiomyopathy, dilated, 1R (10.55, 10.10, 10.107)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



162Cardiomyopathy, dilated, 1S (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



163Cardiomyopathy, dilated, 1T (10.57)
TMPO (12q22)
Lamina-associated polypeptide 2



164Cardiomyopathy, dilated, 1U (10.58)
PSEN1 (14q24.2)
Presenilin 1



165Cardiomyopathy, dilated, 1W (10.59)
PSEN2 (1q42.13)
Presenilin 2



166Cardiomyopathy, dilated, 1W (10.14, 10.60)
VCL (10q22.1-q23)
Vinculin



167Cardiomyopathy, dilated, 1X (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



168Cardiomyopathy, dilated, 1Y (10.3, 10.62, 10.112)
TPM1 (15q22)
Tropomyosin 1 (alpha)



169Cardiomyopathy, dilated, 1Z (10.12, 10.63)
TNNC1 (3p21.3-p14.3)
Slow troponin C



170Cardiomyopathy, dilated, 2B (10.82)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



171Cardiomyopathy, Dilated, 3B (1.1, 10.91)
DMD (Xp21.2)
Dystrophin



172Cardiomyopathy, dilated, X-linked (1.1, 10.91)
DMD (Xp21.2)
Dystrophin



173Cardiomyopathy, familial dilated, 1 (10.40)
? - (9q13)

174cardiomyopathy, familial hypertrophic (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



175cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



176Cardiomyopathy, familial hypertrophic (10.6, 10.96, 10.81, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



177Cardiomyopathy, familial hypertrophic 1 (10.1, 10.68, 10.13, 10.189)
MYH6 (14q12)
Myosin heavy chain 6



178Cardiomyopathy, familial hypertrophic 20 (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



179Cardiomyopathy, familial hypertrophic 27 (10.29)
ALPK3 (15q25.3)
Alpha kinase 3



180cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



181Cardiomyopathy, familial hypertrophic, 10 (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



182Cardiomyopathy, familial hypertrophic, 11 (10.55, 10.10, 10.107)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



183Cardiomyopathy, familial hypertrophic, 12 (10.50, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



184Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.60)
VCL (10q22.1-q23)
Vinculin



185Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



186Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.85)
JPH2 (20q13.12)
Junctophilin-2



187Cardiomyopathy, familial hypertrophic, 18 (10.53, 10.19)
PLN (6q22.1)
Phospholamban



188Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.42, 10.98, 10.109)
TNNT2 (1q32)
Troponin T2, cardiac



189Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



190Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies (
191Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.62, 10.112)
TPM1 (15q22)
Tropomyosin 1 (alpha)



192Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



193Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



194Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.9)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



195Cardiomyopathy, familial restrictive (10.6, 10.96, 10.81, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



196Cardiomyopathy, hypertrophic, 10 (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



197Cardiomyopathy, X-linked dilated (10.90, 10.103)
TAZ (Xq28)
Tafazzin



198Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.47)
MYMK (9q34.2)
Myomaker



199Carey-Fineman-Ziter syndrome 2 (
200Carnitine deficiency, systemic primary (9.23)
SLC22A5 (5q31)
Solute carrier family 22 member 5



201Carnitine-acylcarnitine translocase deficiency (9.24)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



202Central core disease (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



203Centronuclear myopathy 2 (3.19)
BIN1 (2q14)
Amphiphysin



204Centronuclear myopathy 4 (3.20)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



205Centronuclear myopathy 5 (3.21)
SPEG (2q35)
SPEG complex locus



206Centronuclear myopathy 6 with fiber-type disproportion (3.22)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



207Centronuclear myopathy related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



208centronuclear myopathy, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



209Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105)
RNF216 (7p22.1)
Ring finger protein 216



210Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.40, 17.44, 13.108)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



211Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

212Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.125)
RFC1 (4p14)
Replication Factor C Subunit 1



213Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



214Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



215Chanarin-Dorfman syndrome (9.30)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



216Charcot-Marie Tooth disease (14.35)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



217Charcot-Marie Tooth disease related to CNTNAP1 (12.96, 14.36)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



218Charcot-Marie Tooth disease, demyelinating type 1G (14.8)
PMP2 (8q21.13)
peripheral myelin protein-2



219Charcot-Marie Tooth disease, intermediate (14.21)
CFAP276 (1p21.2-p13.3)
Cilia- and flagella-associated protein 276



220Charcot-Marie-Tooth disease with deafness and mental retardation (14.40, 17.44, 13.108)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



221Charcot-Marie-Tooth disease, axonal (14.95)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



222Charcot-Marie-Tooth disease, axonal (12.112, 14.99)
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



223Charcot-Marie-Tooth disease, axonal (15.36, 14.100)
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1



224Charcot-Marie-Tooth disease, axonal (14.101)
MYO9B (19p13.11)
Myosin IXB



225Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



226Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



227Charcot-Marie-Tooth disease, axonal, related to DHX9 (
228Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.76)
JAG1 (20p12.2)
Jagged 1



229Charcot-Marie-Tooth disease, axonal, related to NARS1 (14.136, 14.79)
NARS1 (18q21.31)
Asparaginyl-tRNA Synthetase 1



230Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.134, 5.25, 14.77)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



231Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.96)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



232Charcot-Marie-Tooth disease, axonal, type 20 (14.60, 12.41)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



233Charcot-Marie-Tooth disease, axonal, type 2A2B (14.48, 14.80, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



234Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



235Charcot-Marie-Tooth disease, axonal, type 2CC (12.82, 14.68)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



236Charcot-Marie-Tooth disease, axonal, type 2D (14.51, 12.27)
GARS1 (7p15)
Glycyl-tRNA synthetase



237Charcot-Marie-Tooth disease, axonal, type 2DD (14.69)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



238Charcot-Marie-Tooth disease, axonal, type 2EE (14.83)
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein(M)



239Charcot-Marie-Tooth disease, axonal, type 2FF (14.70)
CADM3 (1q23.2)
Cell adhesion molecule 3



240Charcot-Marie-Tooth disease, axonal, type 2N (12.37, 14.59)
AARS (16q22.1)
Alanyl-tRNA synthetase



241Charcot-Marie-Tooth disease, axonal; related to SACS (15.96, 13.102, 14.97)
SACS (13q12)
Sacsin



242Charcot-Marie-Tooth disease, congenital, vertical talus (14.12)
HOXD10 (2q31.1)
Homeobox D10



243Charcot-Marie-Tooth disease, dominant intermediate A (14.14, 12.47)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



244Charcot-Marie-Tooth disease, dominant intermediate B (3.18, 2.15, 4.20, 14.15, 12.94)
DNM2 (19p13.2)
Dynamin 2



245Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



246Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



247Charcot-Marie-Tooth disease, intermediate, related to SARS1 (
248Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.22, 14.57, 14.86)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



249Charcot-Marie-Tooth disease, recessive intermediate, A (14.22, 14.57, 14.86)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



250Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.69)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



251Charcot-Marie-Tooth disease, type 1A (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



252Charcot-Marie-Tooth disease, type 1B (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



253Charcot-Marie-Tooth disease, type 1D (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



254Charcot-Marie-Tooth disease, type 1E (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



255Charcot-Marie-Tooth disease, type 1F (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



256Charcot-Marie-Tooth disease, type 2A1 (14.47)
KIF1B (1p36.2)
Kinesin family member 1B(M)



257Charcot-Marie-Tooth disease, type 2B2 (14.82, 14.94)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



258Charcot-Marie-Tooth disease, type 2E (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



259Charcot-Marie-Tooth disease, type 2I (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



260Charcot-Marie-Tooth disease, type 2J (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



261Charcot-Marie-Tooth disease, type 2K (14.22, 14.57, 14.86)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



262Charcot-Marie-Tooth disease, type 4A (14.22, 14.57, 14.86)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



263Charcot-Marie-Tooth disease, type 4B1 (14.23)
MTMR2 (11q22)
Myotubularin-related protein 2



264charcot-marie-tooth disease, type 4b2 (14.24)
SBF2 (11p15.4)
SET binding factor 2



265Charcot-Marie-Tooth disease, type 4D (14.27)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



266Charcot-Marie-Tooth disease, type 4F (14.30, 14.46)
PRX (19q13)
Periaxin



267charcot-marie-tooth disease, type 4j (14.33, 12.64)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



268Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.40, 17.44, 13.108)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



269Charcot-Marie-Tooth disease, X-linked recessive related to DRP2 (
270charcot-marie-tooth disease, x-linked recessive, 2 (14.38)
? - (Xp22.2)

271charcot-marie-tooth disease, x-linked recessive, 3 (14.39)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



272charcot-marie-tooth disease, x-linked recessive, 5 (14.41)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



273Charcot-Marie-Tooth neuropathy (14.11)
ITPR3 (6q21.31)
Inositol 1,4,5-triphosphate receptor, type 3



274Charcot-Marie-Tooth neuropathy (14.10)
POLR3B (12q23.3)
Polymerase III, RNA, Subunit B



275Charcot-Marie-Tooth neuropathy Type 2B (14.49)
RAB7A (3q21)
RAB7, member RAS oncogene family



276Charcot-Marie-Tooth neuropathy Type 2F (14.53, 12.25)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



277Charcot-Marie-Tooth neuropathy Type 2H (14.54)
? - (8q21.3)

278Charcot-Marie-Tooth neuropathy Type 2L (14.58, 12.24, 4.27, 4.28)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



279Charcot-Marie-Tooth neuropathy Type 2P (14.61)
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



280Charcot-Marie-Tooth neuropathy Type 2Q (14.62)
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1(M)



281Charcot-Marie-Tooth neuropathy Type 2R (14.90)
TRIM2 (4q31.3)
Tripartite motif containing 2



282Charcot-Marie-Tooth neuropathy Type 2T (14.92, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



283Charcot-Marie-Tooth neuropathy Type 2U (14.63, 15.62)
MARS1 (12q13.3)
Methionyl-tRNA synthetase



284Charcot-Marie-Tooth neuropathy Type 2V (14.64)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



285Charcot-Marie-Tooth neuropathy Type 2W (14.65)
HARS (5q31.3)
Histidyl-tRNA synthetase



286Charcot-Marie-Tooth neuropathy Type 2X (15.27, 12.58, 14.93)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



287Charcot-Marie-Tooth neuropathy Type 2Y (5.37, 4.22, 12.67, 1.56, 14.66)
VCP (9p13-p12)
Valosin-containing protein



288Charcot-Marie-Tooth neuropathy Type 2Z (14.67)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



289Charcot-Marie-Tooth neuropathy Type 4B3 (14.25)
SBF1 (22q13.33)
SET binding factor 1



290Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



291Charcot-Marie-Tooth neuropathy Type 4F (14.26)
SH3TC2 (5q32)
KIAA1985 protein



292Charcot-Marie-Tooth neuropathy Type 4G (14.31)
HK1 (10q22.1)
Hexokinase 1(M)



293Charcot-Marie-Tooth neuropathy Type 4H (14.32)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



294Charcot-Marie-Tooth neuropathy Type 4K (14.34)
SURF1 (9q34.2)
Surfeit 1(M)



295Charcot-Marie-Tooth neuropathy Type F (14.19)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



296Charcot-Marie-Tooth neuropathy with glomerulopathy (14.18)
INF2 (14q32-33)
Inverted formin 2



297Charcot-Marie-Tooth neuropathy X-linked 6 (14.42)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



298charcot-marie-tooth neuropathy, dominant intermediate A (
? - (10q24.1-q25.1)

299Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.16)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



300Charcot-Marie-Tooth neuropathy, with fibulin defect (14.9)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



301Charcot-Marie-Tooth neuropathy, X-linked (14.37, 14.45)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



302Charlevoix disease (14.126)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



303Childhood-onset myopathy with hyperCKaemia (5.49)
PACSIN3 (11p11.2)
Protein kinase C and casein kinase substrate in neuron 3



304CMT recessive intermediate D (14.89)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



305CMT2 related to KIF5A (15.6, 14.73, 12.78)
KIF5A (12q13.13)
Kinesin family member 5A



306Coenzyme Q10 deficiency (13.110)
COQ5 (12q24.31)
Coenzyme Q5 Methyltransferase(M)



307Coenzyme Q10 deficiency 1 (17.48)
COQ2 (4q21.23)
Coenzyme Q2(M)



308Coenzyme Q10 deficiency 5 (17.50)
COQ9 (16q21)
Coenzyme Q9(M)



309Coenzyme Q10 deficiency 6 (17.51)
COQ6 (14q24.3)
Coenzyme Q6(M)



310Coenzyme Q10 deficiency 7 (17.52, 15.99)
COQ4 (9q34.11)
Coenzyme Q4(M)



311Coenzyme Q10 deficiency 8 (17.53, 12.13)
COQ7 (16p12.3)
Coenzyme Q7(M)



312COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



313Combined oxidative phosphorylation deficiency (17.46)
NSUN3 (3q11.2)
NOP2/SUN RNA Methyltransferase Family Member 3



314Combined oxidative phosphorylation deficiency 43 (16.25)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)



315Combined oxidative phosphorylation deficiency 44 (17.45)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



316Combined oxidative phosphorylation deficiency 50 (17.47)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)



317Combined Oxidative phosphorylation Deficiency 6 (14.40, 17.44, 13.108)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



318Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.103, 14.132, 12.14)
VRK1 (14q32)
Vaccinia related kinase 1



319Congenital amyotrophy (3.63)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



320congenital cataracts, facial dysmorphism, and neuropathy (14.131)
CTDP1 (18q23)
CTD phosphatase subunit 1



321Congenital disorder of glycosylation type 1 (9.14)
MPDU1 (17p13.1)
Mannose-P-dolichol utilization defect 1



322Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44)
CHKB (22q13)
Choline kinase beta



323Congenital muscular dystrophy (2.45)
? - (1q42)

324Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (9.16)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



325Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



326Congenital muscular dystrophy related to TRAPPC2L (2.52)
TRAPPC2L (16q24.3)
Trafficking protein particle complex 2-like



327Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.35, 2.42)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



328Congenital muscular dystrophy with hypoglycosylation of dystroglycan (9.13)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



329Congenital muscular dystrophy with hypoglycosylation of dystroglycan (
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



330Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.30, 1.51)
POMK (8p11.21)
Protein-O-mannose kinase



331Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.28)
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)



332Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.50, 2.27)
DAG1 (3p21)
Dystroglycan1



333Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.29)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



334Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



335Congenital muscular dystrophy with merosin deficiency (2.45)
? - (1q42)

336Congenital muscular dystrophy with rigid spine related to ACTA1 (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



337Congenital musuclar dystrophy with telethonin defect (10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



338Congenital myasthenic syndrome (11.25)
LRP4 (11p11.2)
LDL receptor related protein 4



339Congenital myasthenic syndrome (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



340Congenital myasthenic syndrome (11.42)
CHD8 (14q11.2)
Chromodomain Helicase DNA-Binding Protein 8



341Congenital Myasthenic syndrome related to GMPPB (1.52, 2.39, 2.32, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



342Congenital myasthenic syndrome related to MuSK (11.17, 17.28)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



343Congenital myasthenic syndrome related to RPH3A (11.40)
RPH3A (12q23.3)
Rabphilin 3A



344Congenital myasthenic syndrome type 19 (11.27)
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain



345Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



346Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



347Congenital myasthenic syndrome with episodic apnea (11.28, 12.29)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



348Congenital myasthenic syndrome with intellectual disability and ataxia (11.26)
SNAP25 (20p12.2)
Synaptosome associated protein 25



349Congenital myasthenic syndrome with nephrotic syndrome (11.34)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



350Congenital myopathy 10A, severe variant (3.30, 3.29)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



351Congenital myopathy 10B, mild variant (3.30, 3.29)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



352Congenital Myopathy 11 (10.120, 3.43)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



353Congenital myopathy 12 (3.41)
CNTN1 (12q11-q12)
Contactin-1



354Congenital myopathy 13 (3.51, 3.52)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



355Congenital myopathy 14 (3.53)
MYL1 (2q34)
Myosin, light polypeptide 1, alkali, skeletal fast



356Congenital myopathy 15 (3.54)
TNNC2 (20q13.12)
Troponin C Fast



357Congenital myopathy 16 (17.10, 12.93, 3.55)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



358Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



359Congenital myopathy 1B, recessive (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



360Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



361Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



362Congenital myopathy 25 (3.66)
JPH1 (8q21.11)
Junctophilin 1



363Congenital myopathy 2A, typical (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



364Congenital myopathy 2B, severe infantile (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



365Congenital myopathy 2C, severe infantile, dominant (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



366Congenital myopathy 3 with rigid spine (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



367Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



368Congenital myopathy 6 with ophtalmoplegia (3.34)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



369Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



370Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



371Congenital myopathy 8 (10.64, 10.25, 3.48, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



372Congenital myopathy 9A (3.49, 3.50)
FXR1 (3q26.33)
FMR1 autosomal homolog



373Congenital myopathy 9B, proximal with minicore (3.49, 3.50)
FXR1 (3q26.33)
FMR1 autosomal homolog



374Congenital Myopathy related to PYROXD1 (5.9, 1.58, 3.61)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



375Congenital Myopathy related to TNPO3 (1.17, 3.62)
TNPO3 (7q32.1-q32.2)
Transportin 3



376Congenital myopathy with fatal cardiomyopathy (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



377Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.44, 1.23, 3.57)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



378Congenital myopathy with Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction (3.67)
SOX8 (16p13.3)
SRY-Box 8



379congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



380CPT deficiency, hepatic, type II (9.22)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



381CRASH syndrome (15.87)
L1CAM (Xq28)
L1 cell adhesion molecule



382CRASH syndrome (15.87)
L1CAM (Xq28)
L1 cell adhesion molecule



383Creatine phosphokinase, elevated serum (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



384Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



385Danon disease (5.18)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



386Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.47)
EYA4 (6q23-24)
Eyes absent 4



387Dejerine-Sottas neuropathy, autosomal recessive (14.30, 14.46)
PRX (19q13)
Periaxin



388Dejerine-Sottas syndrome (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



389Dejerine-Sottas syndrome (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



390Dejerine-Sottas Syndrome (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



391Desmin-related myopathy (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



392Desmin-related myopathy with Mallory bodies (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



393Developmental delay with hypotonia, myopathy and brain abnormalities (2.47)
GOLGA2 (9q34.113)
Golgin A2



394Dilated cardiomyopathy realted to GATAD1 (10.82)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



395Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



396Dilated cardiomyopathy related to BAG3 (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



397Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.80, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



398Dilated Cardiomyopathy related to DOLK (10.94)
DOLK (9q34.13)
Dolichol kinase



399Dilated cardiomyopathy related to integrin-linked kinase (10.79)
ILK (11p15.5-p15.4)
Integrin-linked kinase



400Dilated cardiomyopathy related to laminin-alpha4 (10.73)
LAMA4 (6q21)
Laminin alpha 4



401Dilated cardiomyopathy related to MURC (10.93)
MURC (9q31.1)
Muscle-related coiled-coil protein



402Dilated cardiomyopathy related to MYBPC3 (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



403Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 17.23, 10.92)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



404Dilated cardiomyopathy related to PRDM16 (10.75, 10.111)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



405Dilated cardiomyopathy related to RAF1 (10.77)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



406dilated cardiomyopathy, 1aa (10.64, 10.25, 3.48, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



407Dilated cardiomyopathy, 1F (
? - (6q23)

408Dilated cardiomyopathy, 1I (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



409Dilated Cardiomyopathy, 1L (1.29, 10.49)
SGCD (5q33-q34)
Delta-sarcoglycan



410Dilated cardiomyopathy, 1N (10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



411Dilated cardiomyopathy, 1OO (10.78)
VEZF1 (17q22)
Vascular endothelial zing finger 1



412Dilated cardiomyopathy, 2C (10.83)
PPCS (1p34.2)
Phosphopantothenosylcystein synthetase



413Dilated cardiomyopathy, 2D (10.84)
RPL3L (16p13.3)
Ribosomal protein L3-like



414Dilated cardiomyopathy, 2E (10.18, 10.85)
JPH2 (20q13.12)
Junctophilin-2



415Dilated cardiomyopathy, 2F (10.86)
BAG5 (14q32.33)
Bag cochaperone



416Dilated cardiomyopathy, 2G (10.87)
LMOD2 (7q31.32)
Leiomodin 2



417Dilated cardiomyopathy, 2H (10.89)
FLII (17p11.2)
FLII actin remodeling protein



418Dilated cardiomyopathy, 2I (10.88)
CAP2 (6p22.3)
Cyclase associated actin cytoskeltin regulatory protein 2



419Dilated cardiomyopathy, related to DSG2 (10.123, 10.65)
DSG2 (18q12.1)
Desmoglein 2



420Distal hereditary motor neuropathies (14.14, 12.47)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



421Distal motor neuropathy (12.33, 15.80)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



422Distal motor neuropathy related to SYT2 (11.14, 12.46, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



423Distal Myopathy (4.26)
PLIN4 (19p13.3)
Perilipin 4



424Distal myopathy with nebulin defect (3.5, 4.17, 4.18)
NEB (2q22)
Nebulin



425Distal myopathy, late-onset (12.63, 4.29)
TARDBP (1p36.2)
TAR DNA binding protein



426Distal Spinal Muscular Atrophy with Calf Predominance (12.28)
FBXO38 (5q32)
F-box protein 38



427Distal spinal muscular atrophy, type VB (15.13, 12.34, 12.10)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



428Duchenne muscular dystrophy (1.1, 10.91)
DMD (Xp21.2)
Dystrophin



429Dusty core disease related to RYR1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



430Dysmyelinating leukodystrophy (15.41)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



431Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



432Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



433Early onset axonal neuropathy with sensory ataxia (14.74)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



434Early onset distal myopathy with KLHL9 mutations (4.21)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



435Early-onset axonal Charcot-Marie-Tooth with ataxia (14.82, 14.94)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



436Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.58, 3.61)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



437Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



438Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



439Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 17.23, 10.92)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



440Emery-dreifuss muscular dystrophy 6 (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



441Emery-dreifuss muscular dystrophy 7 (10.119, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



442Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



443Endocardial fibroelastosis-2 (10.90, 10.103)
TAZ (Xq28)
Tafazzin



444Enolase deficiency (9.20)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



445Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.29, 1.34, 11.36, 1.57)
PLEC (8q24.3)
Plectin



446episodic ataxia type 5, included (13.50)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



447episodic ataxia type 6 (13.51)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



448episodic ataxia type-3 (13.49)
? - (1q42)

449episodic ataxia type-7 (13.52)
? - (19q13)

450Episodic ataxia type-9 (13.53)
SCN2A (2q24.3)
Sodium voltage-gated channel, alpha subunit 2; SCN2A



451Episodic ataxia with myokymia (7.12)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



452Episodic ataxia, type 2 (7.9, 13.6, 13.54, 7.10, 13.48)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



453episodic muscle weakness, x-linked (5.36)
? - (Xp22.3)

454Episodic pain syndrome, familial 3 (14.112, 14.123)
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



455Erythrocyte lactate transporter defect (9.21)
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



456Erythromelalgia, Primary (14.107, 14.122)
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



457Escobar syndrome (multiple pterygium syndrome) (11.35)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



458Exertional myoglobinuria due to deficiency of LDH-A (9.19)
LDHA (11p15.4)
Lactate dehydrogenase A



459Facio-scapulo-humeral muscular dystrophy (1.12)
LRIF1 (1p13.3)
Ligand-Dependent Nuclear Receptor-Interacting Factor 1



460Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



461Familial amyloid neuropathy (17.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



462Familial amyotrophic lateral sclerosis (4.13, 12.74)
MATR3 (5q31)
Matrin 3



463Familial brachial plexus neuropathy (14.128)
SEPT9 (17q25)
Septin 9



464Familial dysautonomia (Riley-Day syndrome) (17.3, 14.108)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



465Familial hypertrophic cardiomyopathy, 13 (10.12, 10.63)
TNNC1 (3p21.3-p14.3)
Slow troponin C



466Familial hypertrophic cardiomyopathy, 14 (10.1, 10.68, 10.13, 10.189)
MYH6 (14q12)
Myosin heavy chain 6



467Familial 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)



468Familial limb girdle myasthenia related to agrin (11.16, 17.33)
AGRN (1p36.33)
Agrin



469Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



470Familial limb-girdle myasthenia related to DOK7 (11.18, 17.29)
DOK7 (4p16.2)
Docking protein 7



471familial sinusal bradycardia (10.188, 10.184)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



472Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



473Fatty aldehyde dehydrogenase (15.83)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



474Fetal akinesia deformation related to AGRN (11.16, 17.33)
AGRN (1p36.33)
Agrin



475Fetal akinesia deformation sequance with MUSK defect (11.17, 17.28)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



476Fetal akinesia deformation sequence 2 (11.19, 17.30)
RAPSN (11p11.2-p11.1)
Rapsyn



477Fetal akinesia deformation sequence 3 (11.18, 17.29)
DOK7 (4p16.2)
Docking protein 7



478Fetal akinesia deformation sequence 4 (17.31)
NUP88 (17p13.2)
Nucleoporin 88kD



479Fetal akinesia deformation sequence related to RYR1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



480Fibrodysplasia ossificans progressiva (5.31)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



481Fibrosis of extraocular muscles, congenital, 1 (17.5)
KIF21A (12q12)
Kinesin family member 21A



482Fibrosis of extraocular muscles, congenital, 2 (17.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



483Fibrosis of extraocular muscles, congenital, 3 (17.7)
TUBB3 (16q24.3)
Tubulin, beta 3



484Fibrosis of extraocular muscles, congenital, 5 (17.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



485Friedreich ataxia (13.57)
FXN (9q13-q21.1)
Frataxin(M)



486friedreich ataxia 2 (13.58)
? - (9p23-p11)

487Friedreich ataxia with retained reflexes (13.57)
FXN (9q13-q21.1)
Frataxin(M)



488fukuyama congenital muscular dystrophy (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



489Galloway-Mowat syndrome 1 (13.65)
WDR73 (15q24-q26)
WD Repeat-Containing Protein 73



490Giant axonal neuropathy 2 (14.130)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



491Giant axonal neuropathy-1 (14.129)
GAN1 (16q23.2)
Gigaxonin



492Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



493Glycogen storage disease II (9.1, 10.102, 1.54)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



494Glycogen storage disease IIb (5.18)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



495glycogen storage disease of heart, lethal congenital (10.5, 9.9)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



496glycogen storage disease type 0 (9.8)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



497Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



498Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



499Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



500Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



501Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



502Glycogen storage disease X (9.18)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



503Glycogen storage disease XI (9.19)
LDHA (11p15.4)
Lactate dehydrogenase A



504Glycogen storage disease XIII (9.20)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



505Glycogen storage disease XIV (9.15)
PGM1 (1p31)
Phosphoglucomutase 1



506Glycogen storage disease XV (9.7, 9.11)
GYG1 (3q24)
Glycogenin 1



507glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



508Hereditary bundle branch system defect (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



509Hereditary motor and sensory neuropathy – Lom (with deafness) (14.27)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



510Hereditary motor and sensory neuropathy 2A (14.48, 14.80, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



511Hereditary motor and sensory neuropathy V (12.38)
? - (4q34.3-q35.2)

512Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.48, 14.80, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



513Hereditary motor and sensory, neuropathy, proximal, type (14.71, 15.57)
TFG (3q13)
TRK-fused gene



514Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



515Hereditary myopathy with early respiratory failure (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



516Hereditary peripheral neuropathy (14.135)
SLC9A3R1 (17q25.1)
Solute carrier family 9, member 3, regulator 1



517hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.103)
? - (3p24-p22)

518Hereditary sensory and autonomic neuropathy type IV (14.109)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



519Hereditary sensory and autonomic neuropathy type VI (14.111)
DST (6p12.1)
Dystonin



520Hereditary sensory and autonomic neuropathy type VIII (14.113)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



521Hereditary sensory neuropathy type IF (14.117)
ATL3 (11q13.1)
atlastin GTPase 3



522Hereditary sensory neuropathy with dementia and hearing loss (14.116)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



523Hereditary sensory neuropathy, type IIB (14.106)
RETREG1 (5p15.1)
Family with sequence similarity 134 member B



524Hutchinson-Gilford progeria syndrome (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



525Hydrocephalus with Hirschspung disease and cleft palate (15.87)
L1CAM (Xq28)
L1 cell adhesion molecule



526Hyperckemia, idiopathic (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



527Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



528Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



529Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



530Hypertrophic cardiomyopathy related to actinin-2 (10.64, 10.25, 3.48, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



531Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.80, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



532Hypertrophic cardiomyopathy related to cardiac myopalladin (10.74, 3.13, 10.24, 10.99)
MYPN (10q21.1)
Myopalladin



533Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.85)
JPH2 (20q13.12)
Junctophilin-2



534Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



535Hypertrophic cardiomyopathy related to nexilin (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



536Hypertrophic cardiomyopathy related to phospholamban (10.53, 10.19)
PLN (6q22.1)
Phospholamban



537Hypertrophic cardiomyopathy related to TCAP (10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



538Hypertrophic cardiomyopathy related to ZASP (5.5, 10.41, 4.19, 10.26, 10.106)
LDB3 (10q22)
LIM domain binding 3



539Hypertrophic cardiomyopathy, 21 (10.23)
? - (7p12.1-q21)

540Hypertrophic cardiomyopathy, 28 (10.30)
FHOD3 (18q12.2)
Formin homology-2 domain-containing protein 3



541Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.34)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



542Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.31)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



543Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.22)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



544Hypokalaemic periodic paralysis (7.11, 10.182)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



545Hypokalaemic periodic paralysis (7.5)
ATP1A2 (1q23.2)
ATPase, NA+/K+ transporting alpha-2 polypeptide



546Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.44, 1.23, 3.57)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



547Hypokalemic periodic paralysis (7.8, 8.5, 3.44, 1.23, 3.57)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



548Inclusion body myopathy and brain white matter abnormalities (12.76, 12.113)
ANXA11 (10q23.3)
Annexin A11



549Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.37, 4.22, 12.67, 1.56, 14.66)
VCP (9p13-p12)
Valosin-containing protein



550Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.38, 5.22)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



551Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.37, 4.22, 12.67, 1.56, 14.66)
VCP (9p13-p12)
Valosin-containing protein



552Inclusion body myopathy, autosomal recessive (4.5)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



553Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.33)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



554Infantile-onset multisystem disease with progressive muscle weakness (16.28)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2(M)



555Isolated inclusion body myopathy (4.7, 12.73, 3.35)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



556Jervell and Lange-Nielsen cardio-auditory syndrome (10.140, 10.157)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



557jervell and lange-nielsen syndrome (10.156, 10.136, 10.160, 10.154)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



558Kennedy disease (12.49)
AR (Xq11.2-q12)
Androgen receptor



559Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.14)
MYO18B (22q12.1)
Myosin XVIIIB



560Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



561LAP1B related muscular dystrophy (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



562Late onset spinal muscular atrophy related to HEXB (12.107)
HEXB (5q13.3)
Hexosaminidase B



563late-onset spinal motor neuronopathy, Jokela type (12.45, 12.86, 16.24)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



564Left ventricular noncompaction 10 (10.4, 3.40, 10.76, 10.113)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



565Left ventricular noncompaction 2 (10.105)
? - (11q15)

566Left ventricular noncompaction 3 (5.5, 10.41, 4.19, 10.26, 10.106)
LDB3 (10q22)
LIM domain binding 3



567Left ventricular noncompaction 4 (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



568Left ventricular noncompaction 5 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



569Left ventricular noncompaction 6 (10.2, 10.42, 10.98, 10.109)
TNNT2 (1q32)
Troponin T2, cardiac



570Left ventricular noncompaction 7 (10.110)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



571LEFT VENTRICULAR NONCOMPACTION 8 (10.75, 10.111)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



572Left ventricular noncompaction 8 (10.75, 10.111)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



573Left ventricular noncompaction 9 (10.3, 10.62, 10.112)
TPM1 (15q22)
Tropomyosin 1 (alpha)



574Lethal congenital contractural syndrome 3 (12.92)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



575Lethal congenital contracture syndrome 1 (12.90)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



576Lethal Congenital Contracture Syndrome 10 (12.99)
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9



577Lethal Congenital Contracture Syndrome 11 (12.100)
GLDN (15q21.2)
Gliomedin



578Lethal congenital contracture syndrome 2 (12.91)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



579Lethal Congenital Contracture Syndrome 4 (17.10, 12.93, 3.55)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



580Lethal Congenital Contracture Syndrome 5 (3.18, 2.15, 4.20, 14.15, 12.94)
DNM2 (19p13.2)
Dynamin 2



581Lethal Congenital Contracture Syndrome 6 (12.95)
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42



582Lethal congenital contracture syndrome 7 (12.96, 14.36)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



583Lethal Congenital Contracture Syndrome 8 (12.97)
ADCY6 (12q13.12)
Adenylate cyclase 6



584Lethal Congenital Contracture Syndrome 9 (12.98)
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6



585Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



586Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107)
RNF220 (1p34.1)
Ring finger protein 220



587LGMD related to DTNA (10.104)
DTNA (18q12)
Dystrobrevin, alpha



588LGMD related to KBTBD13 (3.8)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



589LGMD related to PYROXD1 (5.9, 1.58, 3.61)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



590LGMDD1 (1.16, 4.24, 4.25)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



591LGMDD4 (1.24, 1.19)
CAPN3 (15q15.1-q21.1)
Calpain 3



592LGMDD5 (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



593LGMDD5 (2.5, 2.4, 2.7, 2.12, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



594LGMDD5 (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



595LGMDR10 (Formerly LGMD2J) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



596LGMDR20 (2.25, 1.48)
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



597LGMDR22 (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



598LGMDR22 (2.5, 2.4, 2.7, 2.12, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



599LGMDR22 (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



600LGMDR23 (2.1, 1.37)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



601LGMDR24 (2.26, 1.49)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



602LGMDR26 (1.39)
POPDC3 (6q21)
Popeye domain-containing protein 3



603Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



604Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



605Limb girdle muscular dystrophy with ophthalmoplegia (5.29, 1.34, 11.36, 1.57)
PLEC (8q24.3)
Plectin



606Limb-Girdle, Muscular dystrophy, type 1G (1.18)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



607Limb-girdle, muscular dystrophy, type 1h (1.21)
? - (3p23-p25)

608Limb-Girdle, Muscular dystrophy, type 2M (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



609Limb-girdle, muscular dystrophy, type 2n (2.20, 2.34, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



610Limb-girdle, muscular dystrophy, type 2o (2.35, 2.21, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



611Limb-girdle, muscular dystrophy, type 2q (5.29, 1.34, 11.36, 1.57)
PLEC (8q24.3)
Plectin



612Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



613Limb-Girdle, Muscular dystrophy, type 2S (1.35, 2.42)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



614Limb-Girdle, Muscular dystrophy, type 2T (1.52, 2.39, 2.32, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



615Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, 1.54)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



616Limb-Girdle, Muscular dystrophy, type 2W (1.55)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



617Limb-Girdle, Muscular dystrophy, type 2X (1.38)
BVES (6q21)
Blood vessel epicardial substance



618Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



619Limb-Girdle, Muscular dystrophy, type 2Z (1.36)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



620Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.34)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



621lipodystrophy, congenital generalized, type 4 (1.13)
CAVIN1 (17q21-q2)
Caveolae-associated protein 1(M)



622Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



623Long QT syndrome 10 (10.145, 10.174)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



624Long QT syndrome 11 (10.146)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



625Long QT syndrome 12 (10.147)
SNTA1 (20q11.21)
Syntrophin, alpha 1



626Long QT syndrome 13 (10.152, 10.148)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



627Long QT syndrome 14 (10.131, 10.149)
CALM1 (14q32.11)
Calmodulin 1



628Long QT syndrome 15 (10.150)
CALM2 (2p21)
Calmodulin 2



629Long QT syndrome 16 (10.151, 10.133)
CALM3 (19q13.32)
Calmodulin 3



630Long QT syndrome 9 (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



631Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



632Long QT syndrome-2 (10.137, 10.153)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



633Long QT syndrome-3 (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



634Long QT syndrome-4 (10.139)
ANK2 (4q25-26)
Ankyrin 2



635Long QT syndrome-5 (10.140, 10.157)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



636Long QT syndrome-6 (10.141, 10.161)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



637Long QT syndrome-7 (10.155, 10.166, 10.142)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



638Lower motor neuron disease with respiratory failure related to MAPT (12.111)
MAPT (17q21.31 )
Microtubule associated protein Tau



639luma related muscular dystrophy (10.119, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



640Lysosomal storage myopathy (3.65)
MCOLN1 (19p13.2)
Mucopilin 1



641Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



642Malignant hyperthermia susceptibility 1 (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



643Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

644Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

645Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

646Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.44, 1.23, 3.57)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



647Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

648Mandibuloacral dysplasia with type a lipodystrophy (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



649Marinesco-Sjogren syndrome (13.97)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



650Marssili syndrome (insensitivity to pain, congenital, AD) (14.121)
ZFHX2 (14q11.2)
Zinc finger homeobox 2



651MASA syndrome (15.87)
L1CAM (Xq28)
L1 cell adhesion molecule



652McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



653Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (17.38)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



654minicore myopathy with external ophthalmoplegia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



655Mitochondrial complex 1 deficiency, nuclear type 11 (10.31)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



656Mitochondrial complex 1 deficiency, nuclear type 20 (9.29)
ACAD9 (3q21.3)
Acyl-CoA dehydrogenase family member 9(M)



657Mitochondrial complex I deficiency, nuclear type 29 (16.31)
TMEM126B (11q14.1)
Transmembrane protein 126B(M)



658Mitochondrial complex IV deficiency (16.34)
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16



659Mitochondrial complex IV deficiency, nuclear type 11 (12.114)
COX20 (1q44)
Cytochrome c Oxidase Assembly Factor COX20



660Mitochondrial complex IV deficiency, nuclear type 18 (16.26)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)



661Mitochondrial complex IV deficiency, nuclear type 2 (10.37, 14.96)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



662Mitochondrial complex IV deficiency, nuclear type 6 (10.38)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



663Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.12)
TYMP (22q13.33)
Thymidine phosphorylase



664Mitochondrial DNA depletion syndrome 11 (16.17)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)



665Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.2, 16.19, 16.18)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



666Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.2, 16.19, 16.18)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



667Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (17.43)
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



668Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.21, 16.20)
OPA1 (3q28-q29)
optic atrophy 1(M)



669Mitochondrial DNA depletion syndrome 20 (MNGIE type) (17.54)
LIG3 (17q12)
Ligase III DNA ATP-Dependent



670Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.10, 16.14)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



671Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



672Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



673Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (17.39)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



674Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (17.41, 16.5, 17.40)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



675Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (17.42)
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)



676Mitochondrial dna depletion syndrome, myopathic form (16.13, 13.28, 16.9)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



677Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.33)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



678Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.36)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



679Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.35)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



680Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.32)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



681Mitochondrial myopathy (17.38)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



682Mitochondrial myopathy and multiple mtDNA deletions (16.36)
ENDOG (9q34.11)
Endonuclease G, mitochondrial



683Mitochondrial myopathy and sideroblastic anemia 1 (16.22)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



684Mitochondrial myopathy related to SLC25A26 (16.35)
SLC25A26 (3p14.1)
Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26



685Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.32)
APOO (Xp22.11)
Apolipoprotein O(M)



686Mitochondrial myopathy with severe neurological manifestations (16.27)
TMEM65 (8q24.13)
Transmembrane Protein 65



687Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.30)
FDX2 (19p13.2)
Ferredoxin(M)



688Miyoshi muscular dystrophy 2 (4.2)
? - (8q22.3)

689Miyoshi muscular dystrophy 3 (1.33, 4.3, 1.14)
ANO5 (11p14-12)
Anoctamin 5



690Miyoshi myopathy (4.1, 1.25)
DYSF (2p12-14)
Dysferlin



691Multiminicore disease, classical form (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



692Multiple acyl-coa dehydrogenase deficiency (9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



693Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.25)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



694Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.26)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



695Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



696Multiple mitochondrial dysfunctions syndrome 10 (16.37)
CIAO1 (2q11.2)
WD40 repeat-containing protein CIAO1



697Muscle dystrophy with congenital disorder of glycosylation (9.16)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



698Muscle dystrophy with congenital disorder of glycosylation, type Io (1.53, 2.40)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



699Muscle hypertrophy (5.30)
MSTN (2q32.2)
Myostatin



700Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.41, 5.46)
STIM1 (11p15.4)
Stromal interaction molecule 1



701Muscle-eye-brain disease (1.52, 2.39, 2.32, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



702Muscle-eye-brain disease (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



703Muscle-eye-brain disease (2.20, 2.34, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



704Muscular dystrophy related to GOSR2 (2.43)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



705Muscular dystrophy with gnathodiaphyseal dysplasia (1.33, 4.3, 1.14)
ANO5 (11p14-12)
Anoctamin 5



706Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15)
GGPS1 (1q42.3)
Geranylgeranyl Diphosphate Synthase 1



707Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26, 1.49)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



708Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 2.34, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



709Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



710Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 1.43, 2.33)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



711Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 2.38)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



712Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



713Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (
ISPD (7p21.2)
Isoprenoid synthase domain containing



714Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



715Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.53, 2.40)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



716Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.35, 2.21, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



717Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.24, 2.38)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



718Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



719Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



720Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.50, 2.27)
DAG1 (3p21)
Dystroglycan1



721Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.30, 1.51)
POMK (8p11.21)
Protein-O-mannose kinase



722Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.19, 1.43, 2.33)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



723Muscular dystrophy, autosomal dominant, with rimmed vacuoles (
? - (19p13)

724Muscular dystrophy, congenital Davignon-Chauveau type (2.48, 12.16)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



725Muscular dystrophy, congenital merosin-deficient (2.1, 1.37)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



726Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



727Muscular dystrophy, congenital, with cataracts and intellectual disability (2.49)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



728Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



729Muscular dystrophy, LGMDR27 (1.40)
JAG2 (14q32.33)
Jagged 2



730Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.33, 4.3, 1.14)
ANO5 (11p14-12)
Anoctamin 5



731Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.35, 2.21, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



732Muscular dystrophy, limb-girdle, autosomal recessive 29 (1.42)
SNUPN (15q24.2)
Surportin 1



733Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16)
MYOT (5q31)
Myotilin



734Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



735Muscular dystrophy, Limb-Girdle, Type 1F (1.17, 3.62)
TNPO3 (7q32.1-q32.2)
Transportin 3



736Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

737Muscular dystrophy, limb-girdle, type 2A (1.24, 1.19)
CAPN3 (15q15.1-q21.1)
Calpain 3



738Muscular dystrophy, limb-girdle, type 2B (4.1, 1.25)
DYSF (2p12-14)
Dysferlin



739Muscular dystrophy, limb-girdle, type 2C (1.28)
SGCG (13q12)
Gamma sarcoglycan



740Muscular dystrophy, limb-girdle, type 2D (1.26)
SGCA (17q21)
Alpha sarcoglycan



741Muscular dystrophy, limb-girdle, type 2E (1.27)
SGCB (4q12)
Beta sarcoglycan



742Muscular dystrophy, limb-girdle, type 2F (1.29, 10.49)
SGCD (5q33-q34)
Delta-sarcoglycan



743Muscular dystrophy, limb-girdle, type 2G (10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



744Muscular dystrophy, limb-girdle, type 2H (1.31, 3.42)
TRIM32 (9q33.2)
Tripartite motif-containing 32



745Muscular dystrophy, limb-girdle, type 2I (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



746Muscular dystrophy, Limb-Girdle, type 2K (2.19, 1.43, 2.33)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



747Muscular dystrophy, limb-girdle, type IC (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



748Muscular dystrophy, rigid spine, 1 (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



749Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.41)
HMGCR (5q13.3)
3-Hydroxy-3-methylglutaryl-CoA reductase



750Myasthenia gravis, autosomal recessive (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



751Myasthenia gravis, familial infantile (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



752Myasthenia gravis, familial infantile, 2 (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



753Myasthenia, congenital, 12, with tubular aggregates (11.20)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



754Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



755Myasthenic syndrome, congenital (11.19, 17.30)
RAPSN (11p11.2-p11.1)
Rapsyn



756Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



757Myasthenic syndrome, congenital, 10 (11.18, 17.29)
DOK7 (4p16.2)
Docking protein 7



758Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 17.30)
RAPSN (11p11.2-p11.1)
Rapsyn



759Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



760Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



761Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



762Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



763Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



764Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



765Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



766Myasthenic syndrome, congenital, 22 (11.30)
PREPL (2p21)
Prolyl endopeptidase-like



767Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



768Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



769Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



770Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



771Myasthenic syndrome, congenital, 5 (11.12)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



772Myasthenic syndrome, congenital, 6, presynaptic (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



773Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.46, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



774Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.46, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



775Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 17.28)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



776Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



777Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



778Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



779Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



780Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.46, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



781Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



782Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



783Myasthenic syndrome, slow-channel congenital (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



784Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



785Myasthenic syndrome, with plectin defect (5.29, 1.34, 11.36, 1.57)
PLEC (8q24.3)
Plectin



786Myoclonus-dystonia syndrome (17.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



787Myofibrillar myopathy 1 (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



788Myofibrillar myopathy 10 (5.11)
SVIL (10p11.23)
Supervillin



789Myofibrillar myopathy 11 (5.12)
UNC45B (17q12)
UNC45 Myosin Chaperone B



790myofibrillar myopathy with bag3 defect (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



791myofibrillar myopathy ZASP-related (5.5, 10.41, 4.19, 10.26, 10.106)
LDB3 (10q22)
LIM domain binding 3



792Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



793Myofibrillar myopathy, myotilin related (5.3, 5.4, 4.16)
MYOT (5q31)
Myotilin



794Myopathy centronuclear, 1 (3.18, 2.15, 4.20, 14.15, 12.94)
DNM2 (19p13.2)
Dynamin 2



795Myopathy distal, Tateyama type (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



796Myopathy due to CPT II deficiency (9.22)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



797Myopathy due to phosphoglycerate mutase deficiency (9.18)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



798Myopathy microfibrillar type 7 (5.8)
KY (3q22.2)
Kyphoscoliosis peptidase



799Myopathy with characteristic sarcoplasmic inclusions (5.44)
MB (22q12.3)
Myoglobin



800myopathy with deficiency of succinate dehydrogenase and aconitase (5.39)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



801Myopathy with early respiratory failure (5.16)
DNAJB4 (1p31.1)
DNAJ/HSP40 homolog, subfamily B, member 4



802myopathy with exercise intolerance, swedish type (5.39)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



803Myopathy with extrapyramidal signs (5.45)
MICU1 (10q22.1)
Mitochondrial Calcium Uptake Protein 1



804myopathy with lactic acidosis, hereditary (5.39)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



805Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis (9.12)
MLIP (6p12.1)
Muscular LMNA-interacting protein



806Myopathy with nemaline bodies (3.15)
RYR3 (15q13-q14)
Ryanodine receptor 3



807Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



808Myopathy, cardiomyopathy and congenital myasthenic syndrome (5.1, 10.46, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



809Myopathy, congenital, progressive with scoliosis (3.58)
PAX7 (1p36.13)
Paired Box gene 7



810Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.56)
MYOD1 (11p15.1)
Myogenic Differentiation Antigen 1



811Myopathy, congenital, With excess of muscle spindles (3.46)
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



812myopathy, congenital, with fiber-type disproportion (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



813myopathy, congenital, with fiber-type disproportion (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



814myopathy, congenital, with fiber-type disproportion (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



815myopathy, congenital, with fiber-type disproportion (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



816Myopathy, congenital, with malignant hyperthermia susceptibility (3.51, 3.52)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



817Myopathy, Congenital, With Neuropathy And Deafness (3.45)
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



818Myopathy, distal 1 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



819Myopathy, Distal 3 (4.7, 12.73, 3.35)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



820Myopathy, distal 6, Adult-onset (10.64, 10.25, 3.48, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



821Myopathy, distal, 4 (5.6, 4.8, 10.28, 10.100)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



822Myopathy, distal, 5 (4.9)
ADSS1 (14q32-33)
Adenylosuccinate synthase 1



823Myopathy, distal, 7 adult onset, X-linked (4.11)
SMPX (Xp22.12)
Small Muscle Protein, X-linked



824Myopathy, distal, with rimmed vacuoles (12.87, 4.23, 4.15)
SQSTM1 (5q35.3)
Sequestosome 1



825Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.23)
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)



826Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.50, 16.29)
MSTO1 (1q22)
Misato homolog 1 (Drosophila)(M)



827Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.33)
GFER (16p13.3)
Growth Factor ERV1-Like



828Myopathy, myofibrillar, 2 (5.2, 10.72, 14.78)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



829Myopathy, myofibrillar, filamin C-related (5.6, 4.8, 10.28, 10.100)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



830Myopathy, myosin storage, autosomal dominant (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



831Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



832Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



833Myopathy, X-linked, with excessive autophagy (5.19)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



834myosclerosis, autosomal recessive (2.5, 2.4, 2.7, 2.12, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



835Myosin storage myopathy (4.6, 3.31, 10.56, 3.33, 10.108, 3.32)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



836Myosin, heavy chain, perinatal (17.19)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



837Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



838Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



839Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



840Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



841Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



842Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



843Myotubular myopathy, X-linked (3.17)
MTM1 (Xq28)
Myotubularin



844Myxomatous valvular dystrophy, X-ninked (10.114)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



845naxos disease (10.134, 10.125)
JUP (17q21.2)
Junction plakoglobin



846Nemalin myopathy with distal arthrogryposis (17.13, 3.16)
TNNT3 (11p15.5)
Troponin T3, skeletal



847Nemaline myopathy (3.9)
CFL2 (14q12)
Cofilin 2 (muscle)



848Nemaline myopathy (3.11)
KLHL41 (2q31.1)
Kelch-like family member 41



849Nemaline myopathy (3.12)
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



850Nemaline myopathy (10.74, 3.13, 10.24, 10.99)
MYPN (10q21.1)
Myopalladin



851Nemaline myopathy 1, autosomal dominant (3.3, 3.4)
TPM3 (1q21.2)
Tropomyosin 3



852Nemaline myopathy 2, autosomal recessive (3.5, 4.17, 4.18)
NEB (2q22)
Nebulin



853Nemaline myopathy 3 (3.2, 3.38, 3.1, 3.37, 2.46)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



854Nemaline myopathy 4 (3.6, 3.36, 17.9, 17.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



855Nemaline myopathy 5 (3.7)
TNNT1 (19q13.4)
Slow troponin T



856Nemaline myopathy 6 (3.8)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



857Nemaline Myopathy with Cardiomyopathy (3.14)
MYO18B (22q12.1)
Myosin XVIIIB



858Nesprin-2 related muscular dystrophy (1.6)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



859Neurodegeneration with brain iron accumulation 4 (15.43)
C19orf12 (19q12)
Chromosome 19 open reading frame 12(M)



860Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.116)
ADPRHL2 (1p34.3)
ADP-Ribosylhydrolase-Like 2



861Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (17.27)
SMPD4 (2q21.1)
Sphingomyelin phosphodiesterase 4, neutral membrane



862Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.136, 14.79)
NARS1 (18q21.31)
Asparaginyl-tRNA Synthetase 1



863Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109)
PIGK (1p31.1)
Phosphatidylinositol Glycan Anchor Biosynthesis Class K Protein



864Neurological impairment (13.55)
TOMM70 (3q12.2)
Translocase of Outer Mitochondrial Membrane 70



865Neuromuscular disorder, congenital, with dysmorphic facies (5.17)
FILIP1 (6q14.1)
Filamin A-interacting protein 1



866Neuromyotonia and axonal neuropathy, autosomal recessive (14.85, 12.21)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



867Neuronal intranuclear inclusion diseases (14.134, 5.25, 14.77)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



868Neuronopathy, Distal hereditary motor related to HINT1 (14.85, 12.21)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



869Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.32)
EMILIN1 (2p23.3)
Elastin microfibril interfacer 1



870Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.13, 12.34, 12.10)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



871Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.35)
BSCL2 (11q12-q13.5)
Seipin



872Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.36, 12.84)
DCTN1 (2p13)
Dynactin 1



873Neuronopathy, distal hereditary motor, autosomal recessive 10 (12.103, 14.132, 12.14)
VRK1 (14q32)
Vaccinia related kinase 1



874Neuronopathy, distal hereditary motor, type I (12.23)
? - (7q34-q36)

875neuronopathy, distal hereditary motor, type IIC (12.26)
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



876Neuronopathy, distal hereditary motor, type IX (12.31)
WARS (14q32.2)
Tryptophanyl-tRNA synthetase



877Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.29)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



878Neuronopathy, distal hereditary motor, type VIII (12.30, 12.39, 14.50)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



879Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.40, 17.44, 13.108)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



880Neuropathy, congenital hypomyelinating, 1 (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



881Neuropathy, congenital hypomyelinating, 2 (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



882Neuropathy, distal hereditary motor type V (14.51, 12.27)
GARS1 (7p15)
Glycyl-tRNA synthetase



883Neuropathy, distal hereditary motor, autosomal recessive 6 (15.13, 12.34, 12.10)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



884Neuropathy, distal hereditary motor, autosomal recessive 9 (17.53, 12.13)
COQ7 (16p12.3)
Coenzyme Q7(M)



885Neuropathy, distal hereditary motor, type II (14.58, 12.24, 4.27, 4.28)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



886Neuropathy, distal hereditary motor, type IIB (14.53, 12.25)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



887Neuropathy, distal hereditary motor, with pyramidal features (12.57, 13.95)
SETX (9q34.13)
Senataxin



888Neuropathy, hereditary motor and sensory, lom type (14.27)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



889Neuropathy, hereditary motor and sensory, Okinawa type (14.71, 15.57)
TFG (3q13)
TRK-fused gene



890Neuropathy, hereditary motor and sensory, type VIB (12.104)
SLC25A46 (5q22.1)
solute carrier family 25 member 46(M)



891Neuropathy, hereditary motor, autosomal recessive 8 (14.98, 12.12)
SORD (15q21.1)
Sorbitol Dehydrogenase



892Neuropathy, hereditary motor, with myopathic features (12.11)
VWA1 (1p36.33)
Von Willebrand factor A domain-containing protein 1



893neuropathy, hereditary sensory and autonomic type v (14.110)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



894Neuropathy, hereditary sensory and autonomic, type 1 (14.102, 12.80)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



895Neuropathy, hereditary sensory and autonomic, type IC (14.104)
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



896neuropathy, hereditary sensory and autonomic, type iia (14.105)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



897Neuropathy, hereditary sensory and autonomic, type IID (14.107, 14.122)
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



898Neuropathy, hereditary sensory and autonomic, type III (17.3, 14.108)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



899Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (15.49, 14.114)
TECPR2 (14q32)
Tectonin beta-propeller repeat containing 2



900Neuropathy, hereditary sensory and autonomic, type VII (14.112, 14.123)
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



901Neuropathy, hereditary sensory, type 1 (14.102, 12.80)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



902Neuropathy, hereditary sensory, type 1E (14.116)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



903Neuropathy, hereditary sensory, type ID (15.1, 14.115)
ATL1 (14q22.1)
Atlastin GTPase 1



904Neuropathy, hereditary sensory, type IIC (15.39, 14.118, 15.12)
KIF1A (2q37.3)
Kinesin family member 1A



905Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.133)
CCT5 (5p15.2)
Chaperonin containing TCP1 subunit 5



906Neuropathy, recurrent, with pressure palsies (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



907Neutral lipid storage disease without ichthyosis (9.31)
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



908Nonaka myopathy (4.5)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



909Noncompaction of left ventricular myocardium, isolated (10.90, 10.103)
TAZ (Xq28)
Tafazzin



910Oculopharyngeal muscular dystorphy (5.21)
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



911Oculopharyngeal muscular dystrophy related to HNRNPA2B1 (5.38, 5.22)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



912Oculopharyngeal myopathy with leukoencephalopathy 1 (5.28)
NUTM2B-AS1 (10q22.3)
NUTM2B antisens RNA 1



913Oculopharyngodistal myopathy (14.134, 5.25, 14.77)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



914Oculopharyngodistal myopathy 1 (5.23, 12.81)
LRP12 (8q22.3)
Low density lipoprotein receptor-related protein 12



915Oculopharyngodistal myopathy 2 (5.24)
GIPC1 (19p13.12)
GIPC PDZ Domain-containing family, member 1



916Oculopharyngodistal myopathy 4 (5.26)
RILPL1 (12q24.31)
Rab-interacting lysosomal protein-like 1



917Oculopharyngodistal myopathy 5 (5.27)
ABCD3 (1p21.3)
ATP-binding cassette, subfamily D, member 3



918Olivopontocerebellar atrophy I (13.1)
ATXN1 (6p22.3)
Ataxin 1



919Olivopontocerebellar atrophy II (13.2, 12.66)
ATXN2 (12q24.12)
Ataxin 2



920Olivopontocerebellar atrophy III (13.7)
ATXN7 (3p14)
Ataxin 7



921Paramyotonia congenita of Von Eulenburg (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



922patient with HCM and isolated respiratory complex I deficiency (10.31)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



923Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (10.155, 10.166, 10.142)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



924Peripheral neuropathy and deafness, autosomal dominant (14.127)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



925Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (12.112, 14.99)
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



926Peripheral neuropathy, myopathy, hoarseness and hearing loss (12.110)
MYH14 (19q13.33)
Myosin, heavy chain 14, non muscle



927Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (17.37)
FAM111B (11q12.1)
Family with sequence similarity 111 member B



928Polyglucosan Body Myopathy 1 with or without immunodeficiency (9.10)
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



929Polyglucosan Body Myopathy 2 (9.7, 9.11)
GYG1 (3q24)
Glycogenin 1



930Polyneuropathy with erythromelalgia (14.124)
NMNAT2 (1q25.3)
Nicotinamide nucleoside adenyltransferase 2



931Pontocerebellar hypoplasia type 1 (12.103, 14.132, 12.14)
VRK1 (14q32)
Vaccinia related kinase 1



932Pontocerebellar hypoplasia, type 1D (12.20)
EXOSC9 (4q27 )
Exosome component 9



933posphoglycerate kinase deficiency (9.17)
PGK1 (Xq13)
Phosphoglycerate kinase 1



934Potassium-aggravated myotonia (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



935Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.39)
UNC13A (19p13.11)
Unc-13 homolog A (C. elegans)



936Presynaptic congenital myasthenic syndrome (11.38)
LAMA5 (20q13.33)
Laminin, Alpha 5



937Presynaptic congenital myasthenic syndrome 23 (11.31)
SLC25A1 (22q11.21)
Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M)



938Presynaptic congenital myasthenic syndrome 24 (11.32)
MYO9A (15q23)
Myosin IXA



939Presynaptic congenital myasthenic syndrome 25 (15.91, 11.33)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)(M)



940Primary lateral sclerosis, juvenile (12.55, 15.84)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



941Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



942Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.60, 16.3)
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase



943Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (17.41, 16.5, 17.40)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



944Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.2, 16.19, 16.18)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



945Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (16.6)
DNA2 (10q21.3)
DNA replication helicase 2(M)



946Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (16.11)
TOP3A (17p11.2)
DNA topoisomerase III



947Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



948Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.8)
RNASEH1 (2p25.3)
Ribonuclease H1(M)



949Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.13, 13.28, 16.9)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



950Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.10, 16.14)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



951Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness (16.21, 16.20)
OPA1 (3q28-q29)
optic atrophy 1(M)



952progressive external ophthalmoplegia, autosomal dominant, 4 (16.4)
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit(M)



953Progressive familial heart block, type I (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



954Progressive neuropathy (12.115)
PSAT1 (9q21.2)
Phosphoserine Aminotransferase 1



955Proximal myotonic myopathy (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



956PURA syndrome with neurmuscular junction manisfestations (11.45)
PURA (5q31.3)
Purine-rich element-binding protein A



957Reccurrent myoglobinuria, autosomal recessive (9.32)
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



958Recessive neonatal isolated DC (10.70)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



959Refsum disease, adult (13.103)
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



960Refsum disease, adult (13.104)
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



961Restrictive cardiomyopathy, 2 (10.97)
? - (10)

962Restrictive cardiomyopathy, 6 (10.101)
KIF20A (5q31.2)
Kinesin family member 20A



963restrictive dermopathy (1.3, 1.4, 10.39, 2.17, 14.81)
LMNA (1q22)
Lamin A/C



964Rigid spince syndrome related to HMGCS1 (2.18)
HMGCS1 (5p12)
3-hydroxy-3-methylglutaryl-coa synthase 1



965Rigid spine syndrome (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



966Rigid spine syndrome (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



967Rigid spine syndrome related to FHL1 (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



968Rigid spine syndrome related to SEPN1 (2.13, 5.13)
SELENON (1p36.13)
Selenoprotein N1



969Rimmed vacuole myopathy (14.58, 12.24, 4.27, 4.28)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



970Rippling muscle disease (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16)
CAV3 (3p25.3)
Caveolin 3



971Rippling muscle disease, dominant (6.5)
? - (1q41)

972Romano-Ward syndrome (10.156, 10.136, 10.160, 10.154)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



973Sarcotubular myopathy (1.31, 3.42)
TRIM32 (9q33.2)
Tripartite motif-containing 32



974Scapuloperoneal muscular dystrophy and dropped head syndrome (5.37, 4.22, 12.67, 1.56, 14.66)
VCP (9p13-p12)
Valosin-containing protein



975Scapuloperoneal myopathy, X-linked dominant (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1



976Scapuloperoneal spinal muscular atrophy (12.30, 12.39, 14.50)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



977Schwartz-Jampel syndrome, type 1 (6.8)
HSPG2 (1p36.1-p34)
Perlecan



978Segmental amyoplasia with Distal Arthrogryposis (17.36)
MYLPF (16p11.2)
Myosin Light Chain Phosphorylatable Fast Skeletal Muscle



979Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



980Sensory-motor neuropathy with oculofacial apraxia (12.48)
COX18 (4q13.3)
Cytochrome c Oxidase Assembly Factor COX18(M)



981Severe autosomal-recessive nemaline myopathy (3.10)
KLHL40 (2p22.1)
Kelch-like family member 40



982Severe foetal hypokinesia related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



983Short qt syndrome 1 (10.137, 10.153)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



984Sick Sinus Syndrome 1, autosomal recessive (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



985Sick Sinus Syndrome 2, autosomal dominant (10.188, 10.184)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



986Sick sinus syndrome 3 (10.1, 10.68, 10.13, 10.189)
MYH6 (14q12)
Myosin heavy chain 6



987Sjogren-Larsson syndrome (15.83)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



988Slowed nerve conduction velocity, autosomal dominant (14.13)
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10



989Sodium-channel myasthenia (7.3, 7.6, 7.4, 7.7, 11.24, 3.59, 17.34, 3.60)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



990Sorbitol dehydrogenase deficiency with peripheral neuropathy (14.98, 12.12)
SORD (15q21.1)
Sorbitol Dehydrogenase



991Spastic ataxia 10, autosomal recessive (17.52, 15.99)
COQ4 (9q34.11)
Coenzyme Q4(M)



992Spastic ataxia 4 autosomal recessive (15.94)
MTPAP (10p12.1)
Mitochondrial poly(A) polymerase(M)



993Spastic ataxia 5 autosomal recessive (13.25, 15.95)
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



994Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (15.97)
NKX6-2 (10q26.3)
NK6 homeobox 2



995Spastic ataxia 9, autosomal recessive (15.98)
CHP1 (15q15.1)
Calcineurin-like EF-hand protein 1



996Spastic ataxia Charlevoix-Saguenay type (15.96, 13.102, 14.97)
SACS (13q12)
Sacsin



997Spastic ataxia, Charlevoix-Saguenay type (15.96, 13.102, 14.97)
SACS (13q12)
Sacsin



998Spastic paralysis, infantile onset ascending (12.55, 15.84)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



999Spastic paraplegia 2 (15.88)
PLP1 (Xq22)
Proteolipid protein 1



1000Spastic paraplegia 4 (15.2)
SPAST (2p24-p21)
Spastin



1001Spastic paraplegia 5A (15.24)
CYP7B1 (8p12-q13)
Cytochrome P450, family 7, subfamily B, polypeptide 1



1002Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3)
NIPA1 (15q11.2)
Non imprinted gene in Prader-Willi/Angelman syndrome chromosome region 1



1003Spastic paraplegia 7 (15.25)
SPG7 (16q24.3)
Paraplegin(M)



1004Spastic paraplegia 8 (15.4)
KIAA0196 (8q24.13)
Strumpellin



1005Spastic paraplegia 9 (15.5, 15.26)
ALDH18A1 (10q24.1)
Aldehyde deydrogenase 18 family, member A1 (M)



1006Spastic paraplegia 10 (15.6, 14.73, 12.78)
KIF5A (12q13.13)
Kinesin family member 5A



1007Spastic paraplegia 11 (15.27, 12.58, 14.93)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



1008Spastic paraplegia 12 (15.7, 12.15)
RTN2 (19q13)
Reticulon 2



1009Spastic paraplegia 13 (15.8)
HSPD1 (2q33.1)
Heat shock 60kDa protein 1 (chaperonin)(M)



1010Spastic paraplegia 14 (15.28)
? - (3q27-q28)

1011Spastic paraplegia 15 (15.29)
ZFYVE26 (14q24.1)
Spastizin



1012Spastic paraplegia 16 (15.89)
? - (Xq11.2-q23)

1013Spastic paraplegia 17 (15.9, 12.35)
BSCL2 (11q12-q13.5)
Seipin



1014Spastic paraplegia 18 (15.30, )
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2



1015Spastic paraplegia 18A7, autosomal dominant (15.30, )
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2



1016Spastic paraplegia 19 (15.10)
? - (9q33-q34)

1017Spastic paraplegia 20 (15.31)
SPG20 (13q12.3)
Spartin



1018Spastic paraplegia 20 (15.32)
SPG21 (15q21-q22)
Maspardin



1019Spastic paraplegia 20 (15.38)
DDHD1 (14q21)
DDHD domain containing 1



1020Spastic paraplegia 23 (15.33)
? - (1q24-q32)

1021Spastic paraplegia 24 (15.34)
? - (13q14)

1022Spastic paraplegia 25 (15.35)
? - (6q23.3-q24.1)

1023Spastic paraplegia 26 (15.36, 14.100)
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1



1024Spastic paraplegia 27 (15.37)
? - (10q22.1-q24.1)

1025Spastic paraplegia 29 (15.11)
? - (1p31-p21)

1026Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.115)
ATL1 (14q22.1)
Atlastin GTPase 1



1027Spastic paraplegia 30 (15.39, 14.118, 15.12)
KIF1A (2q37.3)
Kinesin family member 1A



1028Spastic paraplegia 31 (15.13, 12.34, 12.10)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



1029spastic paraplegia 32, autosomal recessive (15.40)
? - (14q12-q21)

1030Spastic paraplegia 33 (15.14)
ZFYVE27 (10q24.2)
Zinc finger, FYVE domain containing 27



1031Spastic paraplegia 34, X-linked (15.90)
? - (Xq24-q25)

1032Spastic paraplegia 35, autosomal recessive (15.41)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



1033Spastic paraplegia 36, autosomal dominant (15.15)
? - (12q23-q24)

1034Spastic paraplegia 37, autosomal dominant (15.16)
? - (8p21.1-q13.3)

1035Spastic paraplegia 38, autosomal dominant (15.17)
? - (4p16-p15)

1036Spastic paraplegia 39, autosomal recessive (15.42)
PNPLA6 (19p13.3-p13.2)
Patatin-like phospholipase domain containing 6



1037Spastic paraplegia 41, autosomal dominant (15.18)
? - (11p14.1-p11.2)

1038Spastic paraplegia 42, autosomal dominant (15.19)
SLC33A1 (3q25.3)
Solute carrier family 33 (acetyl- CoA transporter)



1039Spastic paraplegia 43, autosomal recessive (15.43)
C19orf12 (19q12)
Chromosome 19 open reading frame 12(M)



1040Spastic paraplegia 44, autosomal recessive (15.44)
GJC2 (1q42.13)
gap junction protein, gamma 2, 47kDa



1041Spastic paraplegia 45, autosomal recessive (15.45)
NT5C2 (10q24-q32)
5'-nucleotidase, cytosolic II



1042Spastic paraplegia 46, autosomal recessive (15.46)
GBA2 (9p13.3)
Glucosidase, beta (bile acid) 2



1043Spastic paraplegia 47, autosomal recessive (15.47)
AP4B1 (1p13.2)
adaptor-related protein complex 4, beta 1 subunit



1044Spastic paraplegia 48, autosomal recessive (15.48)
AP5Z1 (7p22.2)
Hypothetical protein LOC9907 ?



1045Spastic paraplegia 49, autosomal recessive (15.49, 14.114)
TECPR2 (14q32)
Tectonin beta-propeller repeat containing 2



1046Spastic paraplegia 50, autosomal recessive (15.50)
AP4M1 (7q22.1)
Adaptor-related protein complex 4, mu 1 subunit



1047Spastic paraplegia 51, autosomal recessive (15.51)
AP4E1 (15q21.2)
Adaptor-related protein complex 4, epsilon-1 subunit



1048Spastic paraplegia 52, autosomal recessive (15.52)
AP4S1 (14q12)
Adaptor-related protein complex 4, sigma 1 subunit



1049Spastic paraplegia 53, autosomal recessive (15.53)
VPS37A (8p22)
Vacuolar protein sorting-associated protein 37A



1050Spastic paraplegia 54, autosomal recessive (15.54)
DDHD2 (8p11.23)
DDHD domain containing protein 2



1051Spastic paraplegia 55, autosomal recessive (15.55)
C12orf65 (12q24.31)
Chomosome 12 open reading frame 65(M)



1052Spastic paraplegia 56, autosomal recessive (15.56)
CYP2U1 (4q25)
Cytochrome P450, family 2, subfamily U, polypeptide 1



1053Spastic paraplegia 57, autosomal recessive (14.71, 15.57)
TFG (3q13)
TRK-fused gene



1054Spastic paraplegia 61, autosomal recessive (15.58)
ARL6IP1 (16p12.3)
ADP-ribosylation factor-like 6 interacting protein 1



1055Spastic paraplegia 62 autosomal recessive (15.59)
ERLIN1 (10q24.31)
Endoplasmic reticulum lipid raft-associated protein 1 (Erlin-1)



1056Spastic paraplegia 63, autosomal recessive (15.60)
AMPD2 (1p13.3)
Adenosine monophosphate deaminase 2



1057Spastic paraplegia 64, autosomal recessive (15.61)
ENTPD1 (10q24.1)
Ectonucleoside triphosphate diphosphohydrolase 1



1058Spastic paraplegia 70, autosomal recessive (14.63, 15.62)
MARS1 (12q13.3)
Methionyl-tRNA synthetase



1059Spastic paraplegia 72, autosomal dominant (15.63, 15.20)
REEP2 (5q31.2)
Receptor expression-enhancing proten 2



1060Spastic paraplegia 72, autosomal recessive (15.63, 15.20)
REEP2 (5q31.2)
Receptor expression-enhancing proten 2



1061Spastic paraplegia 73, autosomal dominant (15.21)
CPT1C (19q13.33)
Carnitine Palmitoyltransferase 1C(M)



1062Spastic paraplegia 74, autosomal recessive (15.64)
IBA57 (1q42.13)
IBA57 homolog, iron-sulfur cluster assembly (M)



1063Spastic paraplegia 75, autosomal recessive (15.65)
MAG (19q13.12)
Myelin associated glycoprotein



1064Spastic paraplegia 76, autosomal recessive (15.66, 12.22)
CAPN1 (11q13.1)
Calpain 1



1065Spastic paraplegia 77, autosomal recessive (15.67)
FARS2 (6p25.1)
Phenylalanine-tRNA synthetase 2(M)



1066Spastic paraplegia 78, autosomal recessive (15.68)
ATP13A2 (1q36.13)
ATPase, type 13A2(M)



1067Spastic paraplegia 79, autosomal dominant (15.69, )
UCHL1 (4p13)
Ubiquitin Carboxyl-Terminal Esterase L1



1068Spastic paraplegia 79, autosomal recessive (15.69, )
UCHL1 (4p13)
Ubiquitin Carboxyl-Terminal Esterase L1



1069Spastic paraplegia 80, autosomal dominant (15.22)
UBAP1 (9p13.3)
Ubiquitin-associated protein 1



1070Spastic paraplegia 81, autosomal recessive (15.70)
SELENOI (2p23.3)
Selenoprotein I



1071Spastic paraplegia 82, autosomal recessive (15.71)
PCYT2 (17q25.3)
Phosphate cytidylyltransferase 2, ethanolamine



1072Spastic paraplegia 83, autosomal recessive (15.72)
HPDL (1p34.1)
4-hydroxyphenylpyruvate dioxygenase-like



1073Spastic paraplegia 84, autosomal recessive (15.73)
PI4KA (22q11.21)
Phosphatidylinositol 4-kinase, alpha



1074Spastic paraplegia 85, autosomal recessive (15.74)
RNF170 (8p11.21)
Ring finger protein 170



1075Spastic paraplegia 86, autosomal recessive (15.75)
ABHD16A (6p21.33)
Abhydrolase domain-containing protein 16a, phospholipase



1076Spastic paraplegia 87, autosomal recessive (15.76)
TMEM63C (14q324.3)
Transmembrane protein 63c



1077Spastic paraplegia 88, autosomal dominant (15.77)
KPNA3 (13q14.2)
Karyopherin alpha-3



1078Spastic paraplegia 89, autosomal recessive (15.78)
AMFR (16q13)
Autocrine motility factor receptor



1079Spastic paraplegia 90B, autosomal recessive (15.79)
SPTSSA (14q13.1)
Serine palmitoyltransferase, small subunit, A



1080Spastic paraplegia 91, autosomal recessive, with or without cerebellar ataxia (12.33, 15.80)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



1081Spastic paraplegia 92, autosomal recessive (15.81)
FICD (12q23.3)
FIC domain-containing protein adenylyltransferase



1082Spastic paraplegia 93, autosomal recessive (15.82)
NFU1 (2p13.3)
NFU1 iron-sulfur cluster scaffold



1083Spastic paraplegia 9A, autosomal recessive (15.5, 15.26)
ALDH18A1 (10q24.1)
Aldehyde deydrogenase 18 family, member A1 (M)



1084Spastic paraplegia and psychomotor retardation with or without seizures (15.86)
HACE1 (6q16.3)
Hect domain- and Ankyrin repeat- contaiing E3 Ubiquitin protein ligase 1



1085Spastic paraplegia, intellectual disability, nystagmus, and obesity (15.23)
KIDINS220 (2p25.1)
kinase D-interacting substrate, 220kDa



1086Spastic paraplegia, optic atrophy, and neuropathy (15.85)
KLC2 (11q13.2)
Kinesin light chain 2



1087Spectraplakinopathy (17.35)
MACF1 (1p34.3)
Microtubule-actin cross-linking factor 1



1088Spheroid body myopathy (5.3, 5.4, 4.16)
MYOT (5q31)
Myotilin



1089Spinal and bulbar muscular atrophy of Kennedy (12.49)
AR (Xq11.2-q12)
Androgen receptor



1090Spinal motor neuropathy (12.40)
RBM7 (11q23.2)
RNA binding motif protein 7



1091Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



1092Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



1093Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



1094Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



1095Spinal muscular atrophy and cerebellar hypoplasia (12.19)
EXOSC8 (13q13.1)
Exosome component 8



1096Spinal muscular atrophy congenital non progressive of lower limbs (12.30, 12.39, 14.50)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



1097Spinal Muscular Atrophy type IV related to CAPN1 (15.66, 12.22)
CAPN1 (11q13.1)
Calpain 1



1098Spinal muscular atrophy with congenital bone fractures 1 (2.48, 12.16)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



1099Spinal muscular atrophy with congenital bone fractures 2 (12.17, 17.25)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



1100Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B (12.109)
KIF26B (1q44)
Kinesin family member 26B



1101Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.102)
EXOSC3 (9p13.2)
Exosome component 3



1102Spinal muscular atrophy with progressive myoclonic epilepsy (12.18)
ASAH1 (8p22)
N-acylsphingosine amidohydrolase (acid ceramidase) 1



1103Spinal muscular atrophy with respiratory distress (12.5, 14.91)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



1104Spinal muscular atrophy with respiratory distress (SMARD) (12.52)
LAS1L (Xq12)
Las1-like ribosome biogenesis factor



1105Spinal muscular atrophy, congenital benin, with contractures (12.30, 12.39, 14.50)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



1106Spinal muscular atrophy, distal related to DNAJB2 (12.9, 14.84)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



1107Spinal muscular atrophy, distal, autosomal recessive (12.103, 14.132, 12.14)
VRK1 (14q32)
Vaccinia related kinase 1



1108spinal muscular atrophy, distal, autosomal recessive, 2 (12.6, 12.69)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



1109spinal muscular atrophy, distal, autosomal recessive, 3 (12.7)
? - (11q13)

1110spinal muscular atrophy, distal, autosomal recessive, 4 (12.8, 14.88)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



1111Spinal muscular atrophy, distal, autosomal recessive, 5 (12.9, 14.84)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



1112Spinal muscular atrophy, distal, type V (14.51, 12.27)
GARS1 (7p15)
Glycyl-tRNA synthetase



1113Spinal muscular atrophy, distal, x-linked 3 (12.51)
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide



1114Spinal muscular atrophy, distal, X-linked, 2 (12.50)
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1



1115Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.50)
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1



1116Spinal muscular atrophy, late-onset, Finkel type (12.61, 12.44)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



1117Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B (12.42, 12.43, 17.24)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



1118Spinal muscular atrophy, lower extremity, autosomal dominant (14.60, 12.41)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



1119Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.42, 12.43, 17.24)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



1120Spinal muscular atrophy, related to PRUNE1 (12.108)
PRUNE1 (1q21.3)
Prune exopolyphosphatase 1



1121Spinobulbar muscular atrophy (SBMA) (12.85, 12.117)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



1122Spinocerebellar ataxia (13.91)
ATG7 (3p25.3)
Autophagy-Related 7



1123Spinocerebellar ataxia (13.89)
VPS41 (7p14.1)
VPS41 Subunit of Hops Complex



1124Spinocerebellar ataxia 1 (13.1)
ATXN1 (6p22.3)
Ataxin 1



1125Spinocerebellar ataxia 2 (13.2, 12.66)
ATXN2 (12q24.12)
Ataxin 2



1126Spinocerebellar ataxia 3 (13.3)
ATXN3 (14q32.12)
Ataxin 3



1127Spinocerebellar ataxia 4 (13.4)
? - (16q22.1)

1128Spinocerebellar ataxia 5 (13.5, 13.74)
SPTBN2 (11q13.2)
Spectrin, Beta, Nonerythrocytic, 2



1129Spinocerebellar ataxia 6 (7.9, 13.6, 13.54, 7.10, 13.48)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



1130Spinocerebellar ataxia 7 (13.7)
ATXN7 (3p14)
Ataxin 7



1131Spinocerebellar ataxia 8 (13.8)
ATXN8 (13q21.33)
Ataxin 8 opposite strand



1132Spinocerebellar ataxia 10 (13.9)
ATXN10 (22q13.31)
Ataxin 10



1133Spinocerebellar ataxia 11 (13.10)
TTBK2 (15q15.2)
Tau tubulin kinase 2



1134Spinocerebellar ataxia 12 (13.11)
PPP2R2B (5q32)
Protein phosphatase 2 regulatory subunit B, beta isoform



1135Spinocerebellar ataxia 13 (13.12)
KCNC3 (19q13.33)
Potassium voltage-gated channel, Shaw-related subfamily, member 3



1136Spinocerebellar ataxia 14 (13.13)
PRKCG (19q13.42)
Protein kinase C, gamma



1137Spinocerebellar ataxia 15 (13.14)
ITPR1 (3p26.1)
Inositol 1,4,5-triphosphate receptor type 1



1138Spinocerebellar ataxia 17 (13.15)
TBP (6q27)
TATA box binding protein



1139Spinocerebellar ataxia 18 (13.16)
IFRD1 (7q31.1)
Interferon-related developmental regulator 1



1140Spinocerebellar ataxia 19 (13.19)
TMEM240 (1p36.33)
Transmembrane protein 240



1141Spinocerebellar ataxia 19 (13.17, 10.185)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



1142Spinocerebellar ataxia 20 (13.18)
? - (11q12.2-11q12.3)

1143Spinocerebellar ataxia 21 (13.20)
? - (1p21-q23)

1144Spinocerebellar ataxia 23 (13.21)
PDYN (20p13-p12-3)
Prodynorphin



1145Spinocerebellar ataxia 25 (13.22)
PNPT1 (2p21-p13)
Polyribonucleotide nucleotidyltransferase 1



1146Spinocerebellar ataxia 26 (13.23)
EEF2 (19p13.3)
Eukaryotic translation elongation factor 2



1147Spinocerebellar ataxia 27 (13.24)
FGF14 (13q34)
Fibroblast growth factor 14



1148Spinocerebellar ataxia 28 (13.25, 15.95)
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



1149Spinocerebellar ataxia 30 (13.27)
? - (4q34.3-q35.1)

1150Spinocerebellar ataxia 31 (13.32)
NOP56 (20p13)
NOP56 ribonucleoprotein



1151Spinocerebellar ataxia 32 (13.29)
? - (7q32-q33)

1152Spinocerebellar ataxia 34 (13.30)
ELOVL4 (6q14.1)
ELOVL fatty acid elongase 4



1153Spinocerebellar ataxia 35 (13.31)
TGM6 (20p13)
Transglutaminase 6



1154Spinocerebellar ataxia 37 (13.33)
? - (1p32)

1155Spinocerebellar ataxia 38 (13.34)
ELOVL5 (6p12.1)
ELOVL fatty acid elongase 5



1156Spinocerebellar ataxia 40 (13.35)
CCDC88C (14q32.11)
Coiled-coil domain containing 88C



1157Spinocerebellar ataxia 41 (13.36)
TRPC3 (4q27)
Transient receptor potential cation channel subfamily C member 3



1158Spinocerebellar ataxia 42 (13.37, 13.38)
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G



1159Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (13.37, 13.38)
CACNA1G (17q21.33)
calcium voltage-gated channel subunit alpha1 G



1160Spinocerebellar ataxia 44 (13.40, 13.73)
GRM1 (6q24.3)
Glutamate receptor metabotropic, 1



1161Spinocerebellar ataxia 45 (13.41)
FAT2 (5q33.1)
Fat tumor suppressor, Drosophila, Homologh of, 2



1162Spinocerebellar ataxia 46 (13.42)
PLD3 (19q13.2)
Phospholipase D family, member 3



1163Spinocerebellar ataxia 47 (13.43)
PUM1 (1p35.2)
Pumilio, Drosophila, Homologh of, 1



1164Spinocerebellar ataxia 48 (13.76, 13.44)
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1



1165Spinocerebellar ataxia 49 (13.56, 13.45)
SAMD9L (7q21.2)
Sterile Alpha Motif Domain-Containing Protein 9-Like



1166Spinocerebellar ataxia 50 (13.46)
NPTX1 (17q25.3)
Neuronal pentraxin 1



1167Spinocerebellar ataxia 51 (13.47)
THAP11 (16q22.1)
THAP domain-containing protein 11



1168Spinocerebellar ataxia with axonal neuropathy type 2 (12.57, 13.95)
SETX (9q34.13)
Senataxin



1169Spinocerebellar ataxia with axonal neuropathy type 3 (13.96)
COA7 (1p32.3)
Cytochrome C oxidase assembly factor 7



1170spinocerebellar ataxia with epilepsy, included (16.1, 13.98, 16.7, 16.16, 16.15)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



1171spinocerebellar ataxia-31 (13.28)
BEAN1 (16q21)
Brain expressed, associated with Nedd42



1172Spinocerebellar ataxia, autosomal recessive 1 (12.57, 13.95)
SETX (9q34.13)
Senataxin



1173Spinocerebellar ataxia, autosomal recessive 10 (13.70)
ANO10 (3p22.1-p21.3)
Anoctamin 10



1174Spinocerebellar ataxia, autosomal recessive 11 (13.71)
SYT14 (1q32.2)
Synaptotagmin 14



1175Spinocerebellar ataxia, autosomal recessive 12 (13.72)
WWOX (16q23.1-q23.2)
WW Domain-Containing Oxidoreductase(M)



1176Spinocerebellar ataxia, autosomal recessive 13 (13.40, 13.73)
GRM1 (6q24.3)
Glutamate receptor metabotropic, 1



1177Spinocerebellar ataxia, autosomal recessive 14 (13.5, 13.74)
SPTBN2 (11q13.2)
Spectrin, Beta, Nonerythrocytic, 2



1178Spinocerebellar ataxia, autosomal recessive 15 (13.75)
RUBCN (3q29)
RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein



1179Spinocerebellar ataxia, autosomal recessive 16 (13.76, 13.44)
STUB1 (16p13.3)
STIP1 homology and U-box containing protein 1



1180Spinocerebellar ataxia, autosomal recessive 17 (13.77)
CWF19L1 (10q24.31)
CWF19-like Protein 1



1181Spinocerebellar ataxia, autosomal recessive 18 (13.78)
GRID2 (4q22.1)
Glutamate receptor, ionotropic, delta 2



1182Spinocerebellar ataxia, autosomal recessive 19 (13.79)
SLC9A1 (1p36.11)
Solute carrier family 9, member 1



1183Spinocerebellar ataxia, autosomal recessive 20 (13.80)
SNX14 (6q14.3)
sorting nexin 14



1184Spinocerebellar ataxia, autosomal recessive 21 (13.81)
SCYL1 (11q13.1)
SCY1 like pseudokinase 1



1185Spinocerebellar ataxia, autosomal recessive 22 (13.82)
VWA3B (2q11.2)
Von Willebrand factor A domain Containing Protein 3B



1186Spinocerebellar ataxia, autosomal recessive 23 (13.83)
TDP2 (6p22.3)
Tyrosyl-DNA phosphodiesterase 2



1187Spinocerebellar ataxia, autosomal recessive 24 (13.84)
UBA5 (3q22.1)
Ubiquitin-Like Modifier Activating Enzyme 5



1188Spinocerebellar ataxia, autosomal recessive 25 (13.85)
ATG5 (6q21)
Autophagy 5, S. Cerevisiae, Homolog of



1189Spinocerebellar ataxia, autosomal recessive 26 (13.86)
XRCC1 (19q13.31)
W-Ray Repair, Complementing Defective, In Chinese Hamster, 1



1190Spinocerebellar ataxia, autosomal recessive 27 (13.87)
GDAP2 (1p12)
Ganglioside induced differentiation associated protein 2



1191Spinocerebellar ataxia, autosomal recessive 28 (13.88)
THG1L (5q33.3)
tRNA-histidine guanyltransferase 1-like protein



1192Spinocerebellar ataxia, autosomal recessive 3 (13.63)
? - (6p23-p21)

1193Spinocerebellar ataxia, autosomal recessive 30 (13.90)
PITRM1 (10p15.2)
Pitrilysin metallopeptidase 1



1194Spinocerebellar ataxia, autosomal recessive 32 (13.92)
PRDX3 (10q26.11)
Peroxiredoxin 3



1195Spinocerebellar ataxia, autosomal recessive 33 (
1196Spinocerebellar ataxia, autosomal recessive 34 (13.30, 13.93)
CA8 (8q12.1)
Carbonic anhydrase VIII



1197Spinocerebellar ataxia, autosomal recessive 4 (13.64)
VPS13D (1p36.22-p36.21)
Vacuolar protein sorting 37, Yeast, homolg of, A



1198Spinocerebellar ataxia, autosomal recessive 6 (13.66)
? - (20q11-q13)

1199Spinocerebellar ataxia, autosomal recessive 7 (13.67)
TPP1 (11p15.4)
Tripeptidyl peptidase I



1200Spinocerebellar ataxia, autosomal recessive 8 (1.5, 13.68, 17.23, 10.92)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



1201spinocerebellar ataxia, autosomal recessive 9 (13.69, 17.49)
ADCK3 (1q42.13)
Coenzyme Q8A



1202spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.94)
TDP1 (14q31-q32)
Tyrosyl-DNA phosphodiesterase 1



1203Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.60, 16.3)
TWNK (10q23.-q24.1)
Twinkle mtDNA helicase



1204Spinocerebellar Ataxia, type 43 (14.92, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



1205Steinert disease (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



1206Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 (12.36, 12.84)
DCTN1 (2p13)
Dynactin 1



1207Susceptibility to amyotrophic lateral sclerosis related to NEFH (12.82, 14.68)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



1208Susceptibility to amyotrophic lateral sclerosis related to peripherin (12.83)
PRPH (12q13.12)
Peripherin



1209Thyrotoxic periodic paralysis, susceptibility to, 2 (7.13)
KCNJ18 (17p11.2)
Kir2.6 (inwardly rectifying potassium channel 2.6)



1210Tibial muscular dystrophy, tardive (5.10, 3.24, 4.4, 1.32, 10.44, 10.8, 3.39, 3.28, 12.101)
TTN (2q31)
Titin



1211Timothy syndrome (10.143, 10.179)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



1212Torsion dystonia, early onset (17.1)
TOR1A (9q34)
Torsin A



1213Tubular aggregate myopathy 1 (5.41, 5.46)
STIM1 (11p15.4)
Stromal interaction molecule 1



1214Tubular aggregate myopathy 2 (5.42)
ORAI1 (12q24.31)
ORAI calcium release-activated calcium modulator 1



1215Ullrich congenital muscular dystrophy (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



1216Ullrich congenital muscular dystrophy (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



1217Ullrich congenital muscular dystrophy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



1218Ullrich scleroatonic muscular dystrophy (2.5, 2.4, 2.7, 2.12, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



1219Vacuolar myopathy with CASQ1 aggregates (5.43)
CASQ1 (1q21)
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1220Ventricular fibrillation, idiopathic (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



1221Ventricular fibrillation, paroxysmal familial (10.138, 10.43, 10.177, 10.187, 10.167)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



1222ventricular tachycardia, catecholaminergic polymorphi (10.129)
CASQ2 (1p13.1)
Calsequestrin 2 (cardiac muscle)



1223Ventricular tachycardia, catecholaminergic polymorphic (10.116, 10.128)
RYR2 (1q43)
Ryanodine receptor 2



1224Ventricular tachycardia, catecholaminergic polymorphic 6 (10.151, 10.133)
CALM3 (19q13.32)
Calmodulin 3



1225Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.130)
TECRL (4q13.1)
Trans-2,3-Enoyl-CoA Reductase-Like Protein



1226Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.131, 10.149)
CALM1 (14q32.11)
Calmodulin 1



1227Ventricular tachycardia, stress-induced polymorphic (10.116, 10.128)
RYR2 (1q43)
Ryanodine receptor 2



1228Vocal cord and pharyngeal distal myopathy (4.13, 12.74)
MATR3 (5q31)
Matrin 3



1229Walker-Warburg syndrome (2.19, 1.43, 2.33)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



1230Walker-Warburg syndrome (
ISPD (7p21.2)
Isoprenoid synthase domain containing



1231Walker-Warburg syndrome (1.46, 2.36, 2.22, 10.61)
FKTN (9q31-q33)
Fukutin



1232Walker-Warburg syndrome (1.47, 2.23, 2.37)
FKRP (19q13.32)
Fukutin-related protein



1233Walker-Warburg syndrome (2.20, 2.34, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



1234Walker-Warburg syndrome (2.26, 1.49)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



1235Walker-Warburg syndrome (WWS) (2.31)
B4GAT1 (11q13.2)
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyl-transferase 1



1236Walker-Warburg syndrome (WWS) (2.25, 1.48)
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



1237Welander distal myopathy (4.14, 4.15, 12.79)
TIA1 (2p13)
Cytotoxic granuleassociated RNA binding protein



1238Welander-like distal myopathy (12.87, 4.23, 4.15)
SQSTM1 (5q35.3)
Sequestosome 1



1239Wieacker-Wolff syndrome (5.47)
ZC4H2 (Xq11.2)
Zinc Finger C4H2 domain-containing protein



1240X-linked myopathy with postural muscle atrophy (1.7, 5.33, 5.34, 5.35)
FHL1 (Xq26.3)
Four and a half LIM domain 1