Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1ACAD9-deficient mild myopathy (9.23)
ACAD9 (3q21.3)
acyl-CoA dehydrogenase family member 9(M)



2Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.45, 7.10, 13.40)
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



3Acyl-CoA dehydrogenase (very long chain) deficiency (9.22)
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)



4Adolescent onset distal myopathy (4.18)
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



5Adult onset distal myopathy (4.6)
? - (8p22-q11)

6Agenesis of the corpus callosum with peripheral neuropathy (14.93)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



7Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.61)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



8Amyotrophic lateral sclerosis (12.39)
? - (18q21)

9Amyotrophic lateral sclerosis (12.46, 12.30)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



10Amyotrophic lateral sclerosis (12.45)
? - (20p13)

11Amyotrophic lateral sclerosis (12.44)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



12Amyotrophic lateral sclerosis (
? - (15q15-q21)

13Amyotrophic lateral sclerosis 1 (12.36, 12.37)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.48)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.28, 12.49)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.50)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.51)
ATXN2 (12q24.1)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.25, 4.17, 12.52, 1.47)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.53)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.54)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.55)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.56)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 20 (3.35, 12.57)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



24Amyotrophic lateral sclerosis 5 (15.22, 12.41, 14.61)
SPG11 (15q21.1)
Spatacsin



25amyotrophic lateral sclerosis 9 (12.47)
ANG (14q11.2)
Angiogenin



26Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.32, 12.63, 16.29)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



27Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.62)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



28Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.64)
SQSTM1 (5q35.3)
Sequestosome 1



29Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.36, 12.37)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



30Amyotrophic lateral sclerosis, juvenile (12.38, 15.62)
ALS2 (2q33.2)
Alsin



31Andermann syndrome (14.93)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



32Arrhythmogenic right ventricular cardiomyopathy 2 (10.80, 10.91)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



33Arrhythmogenic right ventricular cardiomyopathy 3 (10.81)
? - (14q12-q22)

34Arrhythmogenic right ventricular cardiomyopathy 4 (10.82)
? - (2q32.1-q32.3)

35Arrhythmogenic right ventricular cardiomyopathy 6 (10.84)
? - (10p14-p12)

36Arrhythmogenic right ventricular dysplasia 2 (10.80, 10.91)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



37Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.2, 1.17, 10.38, 1.38)
DES (2q35)
Desmin



38Arrhythmogenic right ventricular dysplasia-3 (10.81)
? - (14q12-q22)

39Arrhythmogenic right ventricular dysplasia, 1 (10.79)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



40Arrhythmogenic right ventricular dysplasia, 10 (10.87)
DSG2 (18q12.1)
Desmoglein 2



41Arrhythmogenic right ventricular dysplasia, 11 (10.88)
DSC2 (18q12.1)
Desmocollin 2



42Arrhythmogenic right ventricular dysplasia, 8 (10.85)
DSP (6p24)
Desmoplakin



43Arrhythmogenic right ventricular dysplasia, 9 (10.86)
PKP2 (12p11)
Plakophilin 2



44Arrhythmogenic right ventricular dysplasia, familial, 1 (10.79)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



45arrhythmogenic right ventricular dysplasia, familial, 12 (10.93, 10.89)
JUP (17q21)
Junction plakoglobin



46Arrhythmogenic right ventricular dysplasia, familial, 13 (10.90)
CTNNA3 (10q21.3)
Catenin alpha 3



47Arrhythmogenic right ventricular dysplasia, familial, 4 (10.82)
? - (2q32.1-q32.3)

48arrhythmogenic right ventricular dysplasia, familial, 5 (10.83, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



49Arrhythmogenic right ventricular dysplasia, familial, 6 (10.84)
? - (10p14-p12)

50arrhythmogenic right ventricular dysplasia, familial, 7 (5.5)
? - (10q22)

51Arthrogryposis, distal, type 1A (3.4, 3.36, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



52Arthrogryposis, distal, type 2A (16.9, 16.12)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



53arthrogryposis, distal, type 2B (3.4, 3.36, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



54Arthrogryposis, distal, type 2B (16.10)
TNNI2 (11p15.5)
Troponin I, type 2



55Arthrogryposis, distal, type 2B (16.11)
TNNT3 (11p15.5)
Troponin T3, skeletal



56Arthrogryposis, distal, type 2B (16.9, 16.12)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



57Asymmetric septal hypertrophy (10.47, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



58ataxia telangiectasia (13.63)
ATM (11q22.3)
Ataxia telangiectasia mutated



59ataxia telangiectasia-like disorder (13.64)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



60Ataxia with isolated vitamin E deficiency (13.48)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



61ATAXIA-oculomotor apraxia 2 (12.40, 13.51)
SETX (9q34.13)
Senataxin



62Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.50)
APTX (9p13.3)
Aprataxin



63Ataxia, Friedreich-like, with selective vitamin E deficiency (13.48)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



64ataxia, spastic, 1, autosomal dominant (15.67)
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



65ataxia, spastic, 2, autosomal recessive (15.68)
KIF1C (17p13.2)
kinesin family member 1C



66atrial fibillation, familial, 8 (10.127)
? - (16q22)

67Atrial fibrillation, 1 (10.120)
? - (10q22-q24)

68Atrial fibrillation, 13 (10.138, 10.131)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



69Atrial fibrillation, 14 (10.132)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



70Atrial fibrillation, 15 (10.133)
NUP155 (5p13.2)
Nucleoporin 155 kDa



71Atrial fibrillation, 2 (10.121)
? - (10q22-q24)

72Atrial fibrillation, 3 (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



73Atrial fibrillation, 4 (7.18, 10.107, 10.119, 10.123)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



74Atrial fibrillation, 9 (7.14, 10.108, 10.117, 10.128)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



75atrial fibrillation, familial (10.126)
KCNA5 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 5



76atrial fibrillation, familial, 1 (10.129, 10.130)
GJA5 (1q21.1)
Connexin 40



77atrial fibrillation, familial, 5 (10.124)
? - (4q25)

78atrial fibrillation, familial, 6 (10.125)
NPPA (1p36)
Natriuretic peptide precursor A



79Autophagic vacuolar myopathy (5.14)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



80Autosomal dominant early-onset proximal spinal muscular atrophy (12.31)
? - (14q)

81Autosomal dominant late-onset spinal motor neuropathy (12.32)
82Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



83Autosomal recessive CMT axonal type 2S (12.5, 14.75)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



84Autosomal recessive CMT2 related to DNAJB2 (12.22, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



85Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.72, 13.65)
SACS (13q12)
Sacsin



86autosomal recessive spastic ataxia with leukoencephalopathy (15.69)
MARS2 (2q33-34)
methionyl-tRNA synthetase 2, mitochondrial(M)



87Axonal neuropathy intermediate recessive C (
88Axonal neuropathy intermediate recessive C (12.8, 14.73)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



89Axonal neuropathy recessive (14.72)
KARS (16q23.1)
Lysyl-tRNA synthetase



90Axonal neuropathy with myotonia (14.71)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



91Barth syndrome (10.57, 10.75)
TAZ (Xq28)
Tafazzin



92Becker muscular distrophy (1.1, 10.58)
DMD (Xp21.2)
Dystrophin



93Bethlem myopathy (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



94Bethlem myopathy (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



95Bethlem myopathy (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



96Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



97Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



98Brown-Vialetto-Van Laere syndrome 1 (12.71)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



99Brown-Vialetto-Van Laere syndrome 2 (12.72)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



100Brugada syndrome (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



101brugada syndrome 2 (10.135)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



102brugada syndrome 3 (10.109, 10.136)
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



103brugada syndrome 4 (10.137)
CACNB2 (10p12)
Calcium channel, voltage-dependent, beta 2 subunit



104Brugada syndrome 5 (10.138, 10.131)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



105Brugada syndrome 6 (7.11, 10.139)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



106Brugada syndrome 7 (10.140)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



107Cap myopathy, TPM2-related, included (3.4, 3.36, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



108Cardiac and skeletal aggregate myopathy (5.10)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



109Cardiac and skeletal aggregate myopathy (5.10)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



110Cardiac conduction defect, progressive (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



111cardiac valvular dysplasia, x-linked (10.77)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



112Cardimyopathy, dilated, 1A (10.4, 3.41, 10.55)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



113Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



114cardiomyopathy, dilated 1C (5.4, 10.33, 4.12)
LDB3 (10q22)
LIM domain binding 3



115Cardiomyopathy, dilated, 1A (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



116Cardiomyopathy, dilated, 1CC (10.66, 10.20)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



117Cardiomyopathy, dilated, 1D (10.2, 10.34)
TNNT2 (1q32)
Troponin T2, cardiac



118Cardiomyopathy, dilated, 1DD (10.62)
RBM20 (10q25.3)
RNA binding motif protein 20



119Cardiomyopathy, dilated, 1E (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



120Cardiomyopathy, dilated, 1EE (10.1, 10.65, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



121Cardiomyopathy, dilated, 1G (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



122Cardiomyopathy, dilated, 1GG (10.71)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



123Cardiomyopathy, dilated, 1H (10.37)
? - (2q14-q22)

124Cardiomyopathy, dilated, 1J (10.39)
EYA4 (6q23-24)
Eyes absent 4



125Cardiomyopathy, dilated, 1K (10.40)
? - (6q12-q16)

126Cardiomyopathy, dilated, 1M (10.42, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



127Cardiomyopathy, dilated, 1O (10.44)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



128Cardiomyopathy, dilated, 1P (10.45, 10.19)
PLN (6q22.1)
Phospholamban



129Cardiomyopathy, dilated, 1Q (10.46)
? - (7q22.3-q31.1)

130Cardiomyopathy, dilated, 1R (10.47, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



131Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



132Cardiomyopathy, dilated, 1T (10.49)
TMPO (12q22)
Lamina-associated polypeptide 2



133Cardiomyopathy, dilated, 1W (10.50)
PSEN2 (1q42.13)
Presenilin 2



134Cardiomyopathy, dilated, 1W (10.14, 10.51)
VCL (10q22.1-q23)
Vinculin



135Cardiomyopathy, dilated, 1X (2.19, 2.20, 10.56, 1.33)
FKTN (9q31-q33)
Fukutin



136Cardiomyopathy, dilated, 1Y (10.3, 10.52)
TPM1 (15q22)
Tropomyosin 1 (alpha)



137Cardiomyopathy, dilated, 1Z (10.12, 10.53)
TNNC1 (3p21.3-p14.3)
Slow troponin C



138Cardiomyopathy, dilated, 2B (10.70)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



139Cardiomyopathy, Dilated, 3B (1.1, 10.58)
DMD (Xp21.2)
Dystrophin



140Cardiomyopathy, dilated, X-linked (1.1, 10.58)
DMD (Xp21.2)
Dystrophin



141Cardiomyopathy, familial dilated, 1 (10.32)
? - (9q13)

142cardiomyopathy, familial hypertrophic (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



143cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



144Cardiomyopathy, familial hypertrophic (10.6, 10.72, 10.64)
TNNI3 (19q13.4)
Troponin I, cardiac



145Cardiomyopathy, familial hypertrophic 1 (10.1, 10.65, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



146Cardiomyopathy, familial hypertrophic 20 (10.66, 10.20)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



147cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



148Cardiomyopathy, familial hypertrophic, 10 (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



149Cardiomyopathy, familial hypertrophic, 11 (10.47, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



150Cardiomyopathy, familial hypertrophic, 12 (10.42, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



151Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.51)
VCL (10q22.1-q23)
Vinculin



152Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



153Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



154Cardiomyopathy, familial hypertrophic, 18 (10.45, 10.19)
PLN (6q22.1)
Phospholamban



155Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.34)
TNNT2 (1q32)
Troponin T2, cardiac



156Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.52)
TPM1 (15q22)
Tropomyosin 1 (alpha)



157Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.41, 10.55)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



158Cardiomyopathy, familial hypertrophic, 9 (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



159Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



160Cardiomyopathy, familial restrictive (10.6, 10.72, 10.64)
TNNI3 (19q13.4)
Troponin I, cardiac



161Cardiomyopathy, hypertrophic, mid-left ventricular chamber type (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



162Cardiomyopathy, X-linked dilated (10.57, 10.75)
TAZ (Xq28)
Tafazzin



163Carnitine deficiency, systemic primary (9.17)
SLC22A5 (5q31)
Solute carrier family 22 member 5



164Carnitine-acylcarnitine translocase deficiency (9.18)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



165Central core disease (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



166Centronuclear myopathy related to TTN (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



167Centronuclear myopathy with dilated cardiomyopathy (3.22)
SPEG (2q35)
SPEG complex locus



168centronuclear myopathy, dominant (3.17, 2.16, 4.14, 14.12)
DNM2 (19p13.2)
Dynamin 2



169centronuclear myopathy, recessive (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



170Centronuclear myopathy, related to BIN1, dominant (3.18, 3.19)
BIN1 (2q14)
Amphiphysin



171Centronuclear myopathy, related to BIN1, recessive (3.18, 3.19)
BIN1 (2q14)
Amphiphysin



172Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.68)
RNF216 (7p22.1)
Ring finger protein 216



173Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.27)
? - (3p26)

174Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.45, 7.10, 13.40)
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



175Cerebellar ataxia, pure (7.9, 13.6, 13.45, 7.10, 13.40)
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



176Chanarin-Dorfman syndrome (9.24)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



177Charcot-Marie-Tooth 2 (14.64)
MARS (12q13.3)
methionyl-tRNA synthetase



178Charcot-Marie-Tooth disease with deafness and mental retardation (14.33)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1(M)



179Charcot-Marie-Tooth disease, axonal, type 20 (14.54, 12.26)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



180Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



181Charcot-Marie-Tooth disease, axonal, type 2D (14.44, 12.14)
GARS (7p15)
Glycyl-tRNA synthetase



182Charcot-Marie-Tooth disease, axonal, type 2N (12.13, 14.53)
AARS (16q22.1)
Alanyl-tRNA synthetase



183Charcot-Marie-Tooth disease, congenital, vertical talus (14.8)
HOXD10 (2q31.1)
Homeobox D10



184Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



185Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.17, 14.51)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



186Charcot-Marie-Tooth disease, type 1A (14.1, 14.36, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



187Charcot-Marie-Tooth disease, type 1B (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



188Charcot-Marie-Tooth disease, type 1D (14.4, 14.23, 14.38)
EGR2 (10q21.1)
Early growth response 2 protein



189Charcot-Marie-Tooth disease, type 1E (14.1, 14.36, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



190Charcot-Marie-Tooth disease, type 1F (14.7, 14.45)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



191Charcot-Marie-Tooth disease, type 2A1 (14.40)
KIF1B (1p36.2)
Kinesin family member 1B(M)



192Charcot-Marie-Tooth disease, type 2B2 (14.69)
MED25 (19q13)
Mediator complex subunit 25



193Charcot-Marie-Tooth disease, type 2E (14.7, 14.45)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



194Charcot-Marie-Tooth disease, type 2I (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



195Charcot-Marie-Tooth disease, type 2J (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



196Charcot-Marie-Tooth disease, type 2K (14.17, 14.51)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



197Charcot-Marie-Tooth disease, type 4A (14.17, 14.51)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



198Charcot-Marie-Tooth disease, type 4B1 (14.18)
MTMR2 (11q22)
Myotubularin-related protein 2



199charcot-marie-tooth disease, type 4b2 (14.19)
SBF2 (11p15.4)
SET binding factor 2



200Charcot-Marie-Tooth disease, type 4D (14.22, 14.91)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



201Charcot-Marie-Tooth disease, type 4F (14.25, 14.39)
PRX (19q13)
Periaxin



202charcot-marie-tooth disease, type 4j (14.28, 12.49)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



203charcot-marie-tooth disease, x-linked recessive, 2 (14.31)
? - (Xp22.2)

204charcot-marie-tooth disease, x-linked recessive, 3 (14.32)
? - (Xq26)

205charcot-marie-tooth disease, x-linked recessive, 5 (14.34)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



206Charcot-Marie-Tooth neuropathy Type 2B (14.42)
RAB7A (3q21)
RAB7, member RAS oncogene family



207Charcot-Marie-Tooth neuropathy Type 2F (14.46, 12.11)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



208Charcot-Marie-Tooth neuropathy Type 2G (14.47)
? - (12q12-q13)

209Charcot-Marie-Tooth neuropathy Type 2H (14.48)
? - (8q21.3)

210Charcot-Marie-Tooth neuropathy Type 2L (14.52, 12.10)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



211Charcot-Marie-Tooth neuropathy Type 2P (14.55)
LRSAM1 (9q33.3)
leucine rich repeat and sterile alpha motif containing 1



212Charcot-Marie-Tooth neuropathy Type 2Q (14.56)
DHTKD1 (10p14)
dehydrogenase E1 and transketolase domain containing 1



213Charcot-Marie-Tooth neuropathy Type 2R (14.57)
TRIM2 (4q31.3)
Tripartite motif containing 2



214Charcot-Marie-Tooth neuropathy Type 2T (14.58, 13.39)
MME (3q25.2)
membrane metallo-endopeptidase



215Charcot-Marie-Tooth neuropathy Type 2V (14.59)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



216Charcot-Marie-Tooth neuropathy Type 2W (14.60)
HARS (5q31.3)
histidyl-tRNA synthetase



217Charcot-Marie-Tooth neuropathy Type 2X (15.22, 12.41, 14.61)
SPG11 (15q21.1)
Spatacsin



218Charcot-Marie-Tooth neuropathy Type 2Z (14.62)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



219Charcot-Marie-Tooth neuropathy Type 4B3 (14.20)
SBF1 (22q13.33)
SET binding factor 1



220Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.23, 14.38)
EGR2 (10q21.1)
Early growth response 2 protein



221Charcot-Marie-Tooth neuropathy Type 4F (14.21)
SH3TC2 (5q32)
KIAA1985 protein



222Charcot-Marie-Tooth neuropathy Type 4G (14.26)
HK1 (10q22.1)
Hexokinase 1(M)



223Charcot-Marie-Tooth neuropathy Type 4H (14.27)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



224Charcot-Marie-Tooth neuropathy Type 4K (14.29)
SURF1 (9q34.2)
surfeit 1(M)



225Charcot-Marie-Tooth neuropathy Type F (14.16)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



226Charcot-Marie-Tooth neuropathy with glomerulopathy (14.15)
INF2 (14q32-33)
Inverted formin 2



227Charcot-Marie-Tooth neuropathy X-linked 6 (14.35)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



228charcot-marie-tooth neuropathy, dominant intermediate A (14.11)
PMP2 (8q21.13)
peripheral myelin protein-2



229Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.13)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



230Charcot-Marie-Tooth neuropathy, with fibulin defect (14.10)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



231Charcot-Marie-Tooth neuropathy, X-linked (14.30, 14.38)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



232Charlevoix disease (14.93)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



233CMT recessive intermediate D (14.74)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



234CMT2 related to KIF5A (15.6, 14.65)
KIF5A (12q13.13)
Kinesin family member 5A



235COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



236Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.70, 14.99)
VRK1 (14q32)
Vaccinia related kinase 1



237congenital cataracts, facial dysmorphism, and neuropathy (14.98)
CTDP1 (18q23)
CTD phosphatase subunit 1



238congenital lethal myopathy (3.42)
CNTN1 (12q11-q12)
Contactin-1



239Congenital muscle dystrophy with joint hyperlaxity (2.41)
? - (3p23-21)

240Congenital muscle dystrophy with mitochondrial structural abnormalities (2.42)
CHKB (22q13)
Choline kinase beta



241Congenital muscular dystrophy (2.43)
? - (1q42)

242Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.35)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



243Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



244Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.39, 2.45)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



245Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.34)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



246Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.36)
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



247Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.40)
POMK (8p11.21)
Protein-O-mannose kinase



248Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39)
TMEM5 (12q14.2)
Transmembrane protein 5



249Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.37)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



250Congenital muscular dystrophy with integrin defect (2.15)
ITGA7 (12q13)
Integrin alpha 7 precursor



251Congenital muscular dystrophy with merosin deficiency (2.43)
? - (1q42)

252Congenital muscular dystrophy with rigid spine related to ACTA1 (3.11, 3.3, 3.38, 2.44)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



253Congenital musuclar dystrophy with telethonin defect (1.27, 10.43, 2.17)
TCAP (17q12)
Telethonin



254Congenital Myasthenia (11.31)
MYO9A (15q23)
myosin IXA



255Congenital myasthenic syndrome (11.27)
LRP4 (11p11.2)
LDL receptor related protein 4



256Congenital myasthenic syndrome related to ALG14 (11.24)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



257Congenital myasthenic syndrome related to ALG2 (11.23)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



258Congenital Myasthenic syndrome related to GMPPB (1.40, 2.38, 2.31, 11.32)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



259Congenital myasthenic syndrome related to MuSK (11.14)
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase



260Congenital myasthenic syndrome related to PREPL deficiency (11.26)
PREPL (2p22.1)
Prolyl endopeptidase-like



261Congenital myasthenic syndrome type 19 (11.29)
COL13A1 (10q22.1)
collagen type XIII alpha 1 chain



262Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



263Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.13)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



264Congenital myasthenic syndrome with episodic apnea (12.17, 11.30)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



265Congenital myasthenic syndrome with intellectual disability and ataxia (11.28)
SNAP25 (20p12.2)
synaptosome associated protein 25



266Congenital myopathy related to PTPLA (3.44)
PTPLA (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



267Congenital myopathy with fatal cardiomyopathy (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



268Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.45)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



269congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.41, 10.55)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



270Cowchock syndrome (14.33)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1(M)



271CPT deficiency, hepatic, type II (9.16)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



272CRASH syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



273CRASH syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



274Creatine phosphokinase, elevated serum (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



275Danon disease (5.12)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



276Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.39)
EYA4 (6q23-24)
Eyes absent 4



277Dejerine-Sottas neuropathy (14.4, 14.23, 14.38)
EGR2 (10q21.1)
Early growth response 2 protein



278Dejerine-Sottas neuropathy, autosomal recessive (14.25, 14.39)
PRX (19q13)
Periaxin



279Dejerine-Sottas syndrome (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



280Dejerine-Sottas Syndrome (14.1, 14.36, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



281Desmin-related myopathy (5.2, 1.17, 10.38, 1.38)
DES (2q35)
Desmin



282Desmin-related myopathy with Mallory bodies (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



283Dilated cardiomyopathy realted to GATAD1 (10.70)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



284Dilated cardiomyopathy related to alpha-crystallin (5.1, 10.54)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



285Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.63, 10.21)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



286Dilated Cardiomyopathy related to DOLK (10.69)
DOLK (9q34.13)
Dolichol kinase



287Dilated cardiomyopathy related to integrin-linked kinase (10.60)
ILK (11p15.5-p15.4)
Integrin-linked kinase



288Dilated cardiomyopathy related to laminin-alpha4 (10.59)
LAMA4 (6q21)
Laminin alpha 4



289Dilated cardiomyopathy related to MURC (10.68)
MURC (9q31.1)
Muscle-related coiled-coil protein



290Dilated cardiomyopathy related to MYBPC3 (10.4, 3.41, 10.55)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



291Dilated cardiomyopathy related to myopalladin (10.61)
MYPN (10q21.1)
Myopalladin



292Dilated cardiomyopathy related to nesprin-1 (1.6, 13.57, 16.14, 10.67)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



293dilated cardiomyopathy, 1aa (10.31, 10.22)
ACTN2 (1q42-q43)
Actinin alpha2



294Dilated cardiomyopathy, 1F (
? - (6q23)

295Dilated cardiomyopathy, 1I (5.2, 1.17, 10.38, 1.38)
DES (2q35)
Desmin



296Dilated Cardiomyopathy, 1L (1.26, 10.41)
SGCD (5q33-q34)
Delta-sarcoglycan



297Dilated cardiomyopathy, 1N (1.27, 10.43, 2.17)
TCAP (17q12)
Telethonin



298Distal myopathy related to caveolin (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



299Distal myopathy related to VCP (5.25, 4.17, 12.52, 1.47)
VCP (9p13-p12)
Valosin-containing protein



300Distal Spinal Muscular Atrophy with Calf Predominance (12.28)
FBXO38 (5q32)
F-box protein 38



301Distal spinal muscular atrophy, type VB (15.12, 12.16)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



302Dominant distal hereditary motor neuropathy (12.13, 14.53)
AARS (16q22.1)
Alanyl-tRNA synthetase



303Duchenne muscular dystrophy (1.1, 10.58)
DMD (Xp21.2)
Dystrophin



304Dysmyelinating leukodystrophy (15.36)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



305Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



306Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



307Early onset axonal neuropathy with sensory ataxia (14.66)
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2



308Early onset calf distal myopathy (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



309Early onset distal myopathy with KLHL9 mutations (4.15)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



310Early onset myopathy, areflexia, respiratory distress and dysphagia (3.28, 3.27)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



311Early-onset axonal Charcot-Marie-Tooth with ataxia (14.67)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



312Early-onset myofibrillar myopathy with PYRODX1 defect (5.28)
PYRODX1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



313Emery-Dreifuss Autosomal recessive (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



314Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



315Emery-dreifuss muscular dystrophy 4 (1.6, 13.57, 16.14, 10.67)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



316Emery-dreifuss muscular dystrophy 6 (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



317Emery-dreifuss muscular dystrophy 7 (10.83, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



318Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



319Endocardial fibroelastosis-2 (10.57, 10.75)
TAZ (Xq28)
Tafazzin



320Enolase deficiency (9.15)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



321Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.17, 1.37, 11.22, 1.48)
PLEC (8q24.3)
plectin



322episodic ataxia type 5, included (13.42)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



323episodic ataxia type 6 (13.43)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



324episodic ataxia type-3 (13.41)
? - (1q42)

325episodic ataxia type-7 (13.44)
? - (19q13)

326Episodic ataxia with myokymia (7.12, 13.34)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



327Episodic ataxia, type 2 (7.9, 13.6, 13.45, 7.10, 13.40)
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



328episodic muscle weakness, x-linked (5.24)
? - (Xp22.3)

329Escobar syndrome (multiple pterygium syndrome) (11.21)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



330Exertional myoglobinuria due to deficiency of LDH-A (9.14)
LDHA (11p15.4)
Lactate dehydrogenase A



331Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



332Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



333Familial amyotrophic lateral sclerosis (4.5, 12.58)
MATR3 (5q31)
Matrin 3



334Familial brachial plexus neuropathy (14.95)
SEPT9 (17q25)
Septin 9



335Familial dysautonomia (Riley-Day syndrome) (16.3, 14.85)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



336Familial hypertrophic cardiomyopathy, 13 (10.12, 10.53)
TNNC1 (3p21.3-p14.3)
Slow troponin C



337Familial hypertrophic cardiomyopathy, 14 (10.1, 10.65, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



338Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.18)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



339Familial limb girdle myasthenia related to agrin (11.16)
AGRN (1p36.33)
Agrin



340Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.17)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



341Familial limb-girdle myasthenia related to DOK7 (11.15)
DOK7 (4p16.2)
Docking protein 7



342familial sinusal bradycardia (10.142)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



343Familial spastic paraplegia, autosomal dominant, 1 (
344Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



345Fatty aldehyde dehydrogenase (15.61)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



346Fibrodysplasia ossificans progressiva (5.19)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



347Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



348Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



349Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24)
Tubulin, beta 3



350Friedreich ataxia (13.46)
FXN (9q13-q21.1)
Frataxin(M)



351friedreich ataxia 2 (13.47)
? - (9p23-p11)

352Friedreich ataxia with retained reflexes (13.46)
FXN (9q13-q21.1)
Frataxin(M)



353fukuyama congenital muscular dystrophy (2.19, 2.20, 10.56, 1.33)
FKTN (9q31-q33)
Fukutin



354Giant axonal neuropathy 2 (14.97)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



355Giant axonal neuropathy-1 (14.96)
GAN (16q24.1)
Gigaxonin



356Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



357Glycogen storage disease II (9.1, 10.74, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



358Glycogen storage disease IIb (5.12)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



359glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



360glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



361Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



362Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



363Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



364Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



365Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



366Glycogen storage disease X (9.13)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



367Glycogen storage disease XI (9.14)
LDHA (11p15.4)
Lactate dehydrogenase A



368Glycogen storage disease XIII (9.15)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



369Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



370Glycogen storage disease XV (9.8)
GYG1 (3q24)
Glycogenin 1



371glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



372GOLGA2-related congenital muscle dystrophy with brain involvement (2.46)
GOLGA2 (9q34.113)
golgin A2



373Hereditary bundle branch system defect (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



374Hereditary motor and sensory neuropathy – Lom (with deafness) (14.22, 14.91)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



375Hereditary motor and sensory neuropathy 2A (14.41)
MFN2 (1p36.22)
Mitofusin 2(M)



376Hereditary motor and sensory, neuropathy, proximal, type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



377Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



378Hereditary myopathy with early respiratory failure (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



379hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.77)
? - (3p24-p22)

380Hereditary sensory and autonomic neuropathy type IV (14.86)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



381Hereditary sensory and autonomic neuropathy type VI (14.88)
DST (6p12.1)
dystonin



382Hereditary sensory and autonomic neuropathy type VIII (14.90)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



383Hereditary sensory neuropathy type IF (14.80)
ATL3 (11q13.1)
atlastin GTPase 3



384Hereditary sensory neuropathy with dementia and hearing loss (14.92)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



385Hereditary sensory neuropathy, type IIB (14.82)
FAM134B (5p15.1)
family with sequence similarity 134 member B



386Hutchinson-Gilford progeria syndrome (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



387Hyalin body myopathy (3.29)
? - (3p22.2-p21.32)

388Hydrocephalus with Hirschspung disease and cleft palate (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



389Hyperckemia, idiopathic (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



390Hyperkalemic periodic paralysis (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



391Hyperkalemic periodic paralysis, type 2 (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



392Hypertrophic cardiomyopathy related to actinin-2 (10.31, 10.22)
ACTN2 (1q42-q43)
Actinin alpha2



393Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.63, 10.21)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



394Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



395Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



396Hypertrophic cardiomyopathy related to nexilin (10.66, 10.20)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



397Hypertrophic cardiomyopathy related to phospholamban (10.45, 10.19)
PLN (6q22.1)
Phospholamban



398Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.27)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



399Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.26)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



400Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.23)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



401Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.16)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



402Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.45)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



403Hypokalaemic periodic paralysis, type 3 (7.11, 10.139)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



404Hypokalemic periodic paralysis (7.8, 8.5, 3.45)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



405Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.25, 4.17, 12.52, 1.47)
VCP (9p13-p12)
Valosin-containing protein



406Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



407Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.28)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



408Isolated inclusion body myopathy (3.35, 12.57)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



409jervell and lange-nielsen syndrome (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



410Jervell and Lange-Nielsen syndrome (10.106, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



411Kennedy disease (12.65)
AR (Xq11.2-q12)
Androgen receptor



412Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



413LAP1B related muscular dystrophy (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



414Late onset spinal muscular atrophy related to HEXB (12.73)
HEXB (5q13.3)
Hexosaminidase B



415late-onset spinal motor neuronopathy, Jokela type (12.32, 12.63, 16.29)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



416Left ventricular noncompaction with congenital heart defects (10.76)
DTNA (18q12)
Dystrobrevin, alpha



417Left ventricular noncompaction, familial isolated (10.76)
DTNA (18q12)
Dystrobrevin, alpha



418Lethal congenital contractural syndrome 3 (12.68)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



419Lethal congenital contracture syndrome 1 (12.66)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



420Lethal congenital contracture syndrome 2 (12.67)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



421Limb girdle muscular dystrophy 1D (autosomal dominant) (1.16)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



422Limb girdle muscular dystrophy 1E (autosomal dominant) (5.2, 1.17, 10.38, 1.38)
DES (2q35)
Desmin



423Limb girdle muscular dystrophy 2J (autosomal recessive) (5.16, 3.21, 4.2, 1.30, 10.36, 10.8, 3.40)
TTN (2q31)
Titin



424Limb girdle muscular dystrophy with ophthalmoplegia (5.17, 1.37, 11.22, 1.48)
PLEC (8q24.3)
plectin



425Limb-Girdle, Muscular dystrophy, type 1G (1.19)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



426Limb-girdle, muscular dystrophy, type 1h (1.20)
? - (3p23-p25)

427Limb-Girdle, Muscular dystrophy, type 2M (2.19, 2.20, 10.56, 1.33)
FKTN (9q31-q33)
Fukutin



428Limb-girdle, muscular dystrophy, type 2n (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



429Limb-girdle, muscular dystrophy, type 2o (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



430Limb-girdle, muscular dystrophy, type 2q (5.17, 1.37, 11.22, 1.48)
PLEC (8q24.3)
plectin



431Limb-Girdle, Muscular dystrophy, type 2R (5.2, 1.17, 10.38, 1.38)
DES (2q35)
Desmin



432Limb-Girdle, Muscular dystrophy, type 2S (1.39, 2.45)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



433Limb-Girdle, Muscular dystrophy, type 2T (1.40, 2.38, 2.31, 11.32)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



434Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.74, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



435Limb-Girdle, Muscular dystrophy, type 2W (1.43)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



436Limb-Girdle, Muscular dystrophy, type 2X (1.44)
BVES (6q21)
blood vessel epicardial substance



437Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



438lipodystrophy, congenital generalized, type 4 (1.12)
PTRF (17q21-q23)
Polymerase I and transcript release factor(M)



439Lipodystrophy, familial partial, type 2 (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



440Long QT syndrome 10 (10.111)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



441Long QT syndrome 11 (10.112)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



442Long QT syndrome 12 (10.113)
SNTA1 (20q11.21)
Syntrophin, alpha 1



443Long QT syndrome 13 (10.114)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



444Long QT syndrome 9 (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



445Long QT syndrome-1 (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



446Long QT syndrome-2 (10.103, 7.15, 10.115)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



447Long QT syndrome-3 (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



448Long QT syndrome-4 (10.105)
ANK2 (4q25-q27)
Ankyrin 2



449Long QT syndrome-5 (10.106, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



450Long QT syndrome-6 (7.18, 10.107, 10.119, 10.123)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



451Long QT syndrome-7 (7.14, 10.108, 10.117, 10.128)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



452luma related muscular dystrophy (10.83, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



453Machado-Joseph disease (13.3)
ATXN3 (14q24.3-q32.2)
Ataxin 3



454Malignant hyperthermia susceptibility 1 (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



455Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

456Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

457Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

458Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.45)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



459Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

460Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



461Marinesco-Sjogren syndrome (13.61)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



462MASA syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



463McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



464minicore myopathy with external ophthalmoplegia (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



465Mitochondrial dna depletion syndrome, myopathic form (16.21, 13.29)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



466Mitochondrial dna depletion syndrome, myopathic form (16.22)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



467Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.25)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



468Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.29)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



469Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.28)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



470Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.24)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



471Mitochondrial myopathy (12.32, 12.63, 16.29)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



472Mitochondrial myopathy (16.24)
SLC25A42 (19p13.11)
solute carrier family 25 member 42(M)



473Mitochondrial myopathy and sideroblastic anemia 1 (16.28)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



474Miyoshi myopathy (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



475Motor neuropathy, distal, with vocal cord paralysis (12.17, 11.30)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



476Multiminicore disease, classical form (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



477Multiple acyl-coa dehydrogenase deficiency (9.21, 9.26)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



478Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.19)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



479Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.20)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



480Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.21, 9.26)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



481Muscle dystrophy with congenital disorder of glycosylation (2.35)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



482Muscle dystrophy with congenital disorder of glycosylation, type Io (1.46)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



483Muscle hypertrophy (5.18)
MSTN (2q32.2)
Myostatin



484Muscle-eye-brain disease (1.40, 2.38, 2.31, 11.32)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



485Muscle-eye-brain disease (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



486Muscle-eye-brain disease (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



487Muscle-eye-brain disease (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



488Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



489Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



490Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



491Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



492Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



493Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



494Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.25, 1.41)
ISPD (7p21.2)
Isoprenoid synthase domain containing



495Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.20, 10.56, 1.33)
FKTN (9q31-q33)
Fukutin



496Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



497Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.33)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



498Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



499Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.19, 2.20, 10.56, 1.33)
FKTN (9q31-q33)
Fukutin



500Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.36)
DAG1 (3p21)
Dystroglycan1



501Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
? - (19p13)

502Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.34)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



503Muscular dystrophy, congenital merosin-deficient (2.1)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



504Muscular dystrophy, congenital, due to ITGA7 deficiency (2.15)
ITGA7 (12q13)
Integrin alpha 7 precursor



505Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



506Muscular dystrophy, Limb-Girdle, type 1A (1.13, 5.6, 5.7, 4.9)
MYOT (5q31)
Myotilin



507Muscular dystrophy, limb-girdle, type 1B (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



508Muscular dystrophy, Limb-Girdle, Type 1F (1.18)
TNPO3 (7q32.1-q32.2)
Transportin 3



509Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

510Muscular dystrophy, limb-girdle, type 2A (1.21)
CAPN3 (15q15.1-q21.1)
Calpain 3



511Muscular dystrophy, limb-girdle, type 2B (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



512Muscular dystrophy, limb-girdle, type 2C (1.23)
SGCG (13q12)
Gamma sarcoglycan



513Muscular dystrophy, limb-girdle, type 2D (1.24)
SGCA (17q21)
Alpha sarcoglycan



514Muscular dystrophy, limb-girdle, type 2E (1.25)
SGCB (4q12)
Beta sarcoglycan



515Muscular dystrophy, limb-girdle, type 2F (1.26, 10.41)
SGCD (5q33-q34)
Delta-sarcoglycan



516Muscular dystrophy, limb-girdle, type 2G (1.27, 10.43, 2.17)
TCAP (17q12)
Telethonin



517Muscular dystrophy, limb-girdle, type 2H (1.28, 3.43)
TRIM32 (9q33.2)
Tripartite motif-containing 32



518Muscular dystrophy, limb-girdle, type 2I (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



519Muscular dystrophy, Limb-Girdle, type 2K (2.21, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



520Muscular dystrophy, limb-girdle, type 2L (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



521Muscular dystrophy, limb-girdle, type IC (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



522Muscular dystrophy, rigid spine, 1 (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



523Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



524Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



525Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



526Myasthenia, familial infantil, 1 ()
527Myasthenic syndrome, acetazolamide-responsive (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



528Myasthenic syndrome, congenital (11.11)
RAPSN (11p11.2-p11.1)
Rapsyn



529Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.19)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



530Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



531Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



532Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



533Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



534Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.25)
SYT2 (1q32.1)
Synaptotagmin II



535Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



536Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



537Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



538Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



539Myasthenic syndrome, with plectin defect (5.17, 1.37, 11.22, 1.48)
PLEC (8q24.3)
plectin



540Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



541myofibrillar myopathy with bag3 defect (5.9)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



542myofibrillar myopathy ZASP-related (5.4, 10.33, 4.12)
LDB3 (10q22)
LIM domain binding 3



543Myofibrillar myopathy, alpha-B crystallin related (5.1, 10.54)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



544Myofibrillar myopathy, myotilin related (1.13, 5.6, 5.7, 4.9)
MYOT (5q31)
Myotilin



545Myopathy due to CPT II deficiency (9.16)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



546Myopathy due to phosphoglycerate mutase deficiency (9.13)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



547Myopathy microfibrillar type 7 (5.11)
KY (3q22.2)
Kyphoscoliosis peptidase



548Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.33, 3.32, 3.34)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



549myopathy with deficiency of succinate dehydrogenase and aconitase (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



550myopathy with exercise intolerance, swedish type (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



551Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.33, 3.32, 3.34)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



552myopathy with lactic acidosis, hereditary (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



553myopathy, congenital, with fiber-type disproportion (3.11, 3.3, 3.38, 2.44)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



554myopathy, congenital, with fiber-type disproportion (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



555myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



556myopathy, congenital, with fiber-type disproportion (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



557Myopathy, distal 1 (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



558Myopathy, distal, 4 (5.8, 4.16)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



559Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.31)
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial(M)



560Myopathy, myofibrillar, 2 (5.1, 10.54)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



561Myopathy, myofibrillar, filamin C-related (5.8, 4.16)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



562Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



563Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



564Myopathy, X-linked, with excessive autophagy (5.13)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



565myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



566Myosin storage myopathy (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



567Myosin, heavy chain, perinatal (16.15)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



568Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



569Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



570Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



571Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



572Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



573Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



574Myotubular myopathy, X-linked (3.16)
MTM1 (Xq28)
Myotubularin



575Myxomatous valvular dystrophy, X-ninked (10.77)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



576naxos disease (10.93, 10.89)
JUP (17q21)
Junction plakoglobin



577Nemaline myopathy (3.7)
CFL2 (14q12)
Cofilin 2 (muscle)



578Nemaline myopathy (3.9)
KLHL41 (2q31.1)
Kelch-like family member 41



579Nemaline myopathy (3.10)
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



580Nemaline myopathy 1, autosomal dominant (3.1, 3.13, 3.37)
TPM3 (1q21.2)
Tropomyosin 3



581Nemaline myopathy 2, autosomal recessive (3.2, 4.10)
NEB (2q22)
Nebulin



582Nemaline myopathy 3 (3.11, 3.3, 3.38, 2.44)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



583Nemaline myopathy 4 (3.4, 3.36, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



584Nemaline myopathy 5 (3.5)
TNNT1 (19q13.4)
Slow troponin T



585Nemaline myopathy 6 (3.6)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



586Nesprin-2 related muscular dystrophy (1.7)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



587Neurodegeneration with brain iron accumulation 4 (15.38)
C19orf12 (19q12)
chromosome 19 open reading frame 12(M)



588Neuronopathy, distal hereditary motor, type I (12.9)
? - (7q34-q36)

589neuronopathy, distal hereditary motor, type IIC (12.12)
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



590Neuronopathy, distal hereditary motor, type V (15.9, 12.15)
BSCL2 (11q12-q13.5)
Seipin



591Neuronopathy, distal hereditary motor, type VIIB (12.18, 12.61)
DCTN1 (2p13)
Dynactin 1



592Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.33)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, mitochondrionassociated 1(M)



593Neuropathy, congenital hypomyelinating (14.2, 14.37, 14.49, 14.50, 14.24, 14.14)
MPZ (1q22)
Myelin protein zero



594Neuropathy, congenital hypomyelinating (14.4, 14.23, 14.38)
EGR2 (10q21.1)
Early growth response 2 protein



595Neuropathy, distal hereditary motor type V (14.44, 12.14)
GARS (7p15)
Glycyl-tRNA synthetase



596Neuropathy, distal hereditary motor, type II (14.52, 12.10)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



597Neuropathy, distal hereditary motor, type IIB (14.46, 12.11)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



598Neuropathy, distal hereditary motor, with pyramidal features (12.40, 13.51)
SETX (9q34.13)
Senataxin



599Neuropathy, hereditary motor and sensory, lom type (14.22, 14.91)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



600Neuropathy, hereditary motor and sensory, Okinawa type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



601neuropathy, hereditary sensory and autonomic type v (14.87)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



602Neuropathy, hereditary sensory and autonomic, type 1 (14.76)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



603Neuropathy, hereditary sensory and autonomic, type IC (14.78)
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



604neuropathy, hereditary sensory and autonomic, type iia (14.81)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



605Neuropathy, hereditary sensory and autonomic, type IID (14.84)
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9



606Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.85)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



607Neuropathy, hereditary sensory and autonomic, type VII (14.89)
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11



608Neuropathy, hereditary sensory, type 1 (14.76)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



609Neuropathy, hereditary sensory, type 1E (14.92)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



610Neuropathy, hereditary sensory, type ID (15.1, 14.79)
ATL1 (14q22.1)
Atlastin GTPase 1



611Neuropathy, hereditary sensory, type IIC (15.34, 14.83)
KIF1A (2q37.3)
Kinesin family member 1A



612Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.100)
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5



613Neuropathy, recurrent, with pressure palsies (14.1, 14.36, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



614Neutral lipid storage disease without ichthyosis (9.25)
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



615Nonaka myopathy (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



616Noncompaction of left ventricular myocardium, isolated (10.57, 10.75)
TAZ (Xq28)
Tafazzin



617Oculopharyngeal muscular dystorphy (5.15)
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



618Olivopontocerebellar atrophy I (13.1)
ATXN1 (6p23)
Ataxin 1



619Olivopontocerebellar atrophy II (13.2, 12.51)
ATXN2 (12q24.1)
Ataxin 2



620Olivopontocerebellar atrophy III (13.7)
ATXN7 (3p21.1-p12)
Ataxin 7



621Paramyotonia congenita of Von Eulenburg (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



622patient with HCM and isolated respiratory complex I deficiency (10.23)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



623Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (7.14, 10.108, 10.117, 10.128)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



624Peripheral neuropathy and deafness, autosomal dominant (14.94)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



625Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (16.32)
FAM111B (11q12.1)
family with sequence similarity 111 member B



626Polyglucosan storage myopathy (9.11)
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



627Pontocerebellar hypoplasia type 1 (12.70, 14.99)
VRK1 (14q32)
Vaccinia related kinase 1



628posphoglycerate kinase deficiency (9.12)
PGK1 (Xq13)
Phosphoglycerate kinase 1



629Potassium-aggravated myotonia (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



630Primary lateral sclerosis, juvenile (12.38, 15.62)
ALS2 (2q33.2)
Alsin



631Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.16, 13.62)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



632Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.49, 16.18)
C10orf2 (10q24.31)
chromosome 10 open reading frame 2(M)



633Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.23, 16.20)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



634Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.17)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



635Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de (16.25)
OPA1 (3q28-q29)
optic atrophy 1(M)



636progressive external ophthalmoplegia, autosomal dominant, 4 (16.19)
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit(M)



637Progressive familial heart block, type I (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



638Proximal myotonic myopathy (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



639Reccurrent myoglobinuria, autosomal recessive (9.27)
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



640Recessive congenital myopathy with minicores (3.28, 3.27)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



641Recessive neonatal isolated DC (10.71)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



642Refsum disease, adult (13.66)
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



643Refsum disease, adult (13.67)
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



644Restrictive cardiomyopathy, 2 (10.73)
? - (10)

645restrictive dermopathy (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



646Rigid spine syndrome (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



647Rigid spine syndrome (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



648Rigid spine syndrome related to FHL1 (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



649Rigid spine syndrome related to SEPN1 (2.13, 5.3, 3.12, 3.26)
SEPN1 (1p36.13)
Selenoprotein N1



650Rippling muscle disease (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
CAV3 (3p25)
Caveolin 3



651Rippling muscle disease (6.5)
? - (1q41)

652Romano-Ward syndrome (10.118, 10.102, 7.17, 7.16, 10.122, 10.116)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



653Sarcotubular myopathy (1.28, 3.43)
TRIM32 (9q33.2)
Tripartite motif-containing 32



654Scapuloperoneal muscular dystrophy and dropped head syndrome (5.25, 4.17, 12.52, 1.47)
VCP (9p13-p12)
Valosin-containing protein



655Scapuloperoneal myopathy, X-linked dominant (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



656Scapuloperoneal spinal muscular atrophy (12.24, 12.25, 14.43)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



657Schwartz-Jampel syndrome, type 1 (6.8)
HSPG2 (1p36.1-p34)
Perlecan



658Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.16, 13.62)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



659Severe autosomal-recessive nemaline myopathy (3.8)
KLHL40 (2p22.1)
Kelch-like family member 40



660Short qt syndrome 1 (10.103, 7.15, 10.115)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



661Sick Sinus Syndrome 1, autosomal recessive (10.104, 7.7, 10.35, 10.134, 10.141)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



662Sick Sinus Syndrome 2, autosomal dominant (10.142)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



663Sjogren-Larsson syndrome (15.61)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



664Slowed nerve conduction velocity, autosomal dominant (14.9)
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10



665Sodium-channel myasthenia (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



666Spastic ataxia 4 autosomal recessive (15.70)
MTPAP (10p12.1)
mitochondrial poly(A) polymerase(M)



667Spastic ataxia 5 autosomal recessive (13.26, 15.71)
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



668Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type (15.72, 13.65)
SACS (13q12)
Sacsin



669Spastic paralysis, infantile onset ascending (12.38, 15.62)
ALS2 (2q33.2)
Alsin



670Spastic paraplegia 2 (15.64)
PLP1 (Xq22)
Proteolipid protein 1



671Spastic paraplegia 3A (
672Spastic paraplegia 4 (15.2)
SPAST (2p24-p21)
Spastin



673Spastic paraplegia 5A (15.19)
CYP7B1 (8p12-q13)
Cytochrome P450, family 7, subfamily B, polypeptide 1



674Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3)
NIPA1 (15q11.2)
Non-imprinted in Prader-Willi/Angelman syndrome 1



675Spastic paraplegia 7 (15.20)
SPG7 (16q24.3)
Paraplegin(M)



676Spastic paraplegia 8 (15.4)
KIAA0196 (8q24.13)
Strumpellin



677Spastic paraplegia 9 (15.5, 15.21)
ALDH18A1 (10q24.1)
Delta-1-pyrroline-5-carboxylate synthase(M)



678Spastic paraplegia 10 (15.6, 14.65)
KIF5A (12q13.13)
Kinesin family member 5A



679Spastic paraplegia 11 (15.22, 12.41, 14.61)
SPG11 (15q21.1)
Spatacsin



680Spastic paraplegia 12 (15.7)
RTN2 (19q13)
Reticulon 2



681Spastic paraplegia 13 (15.8)
HSPD1 (2q33.1)
Heat shock 60kDa protein 1 (chaperonin)(M)



682Spastic paraplegia 14 (15.23)
? - (3q27-q28)

683Spastic paraplegia 15 (15.24)
ZFYVE26 (14q24.1)
Spastizin



684Spastic paraplegia 16 (15.65)
? - (Xq11.2)

685Spastic paraplegia 17 (15.9, 12.15)
BSCL2 (11q12-q13.5)
Seipin



686Spastic paraplegia 18 (15.25)
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2



687Spastic paraplegia 19 (15.10)
? - (9q33-q34)

688Spastic paraplegia 20 (15.26)
SPG20 (13q12.3)
Spartin



689Spastic paraplegia 20 (15.27)
SPG21 (15q21-q22)
Maspardin



690Spastic paraplegia 20 (15.33)
DDHD1 (14q21)
DDHD domain containing 1



691Spastic paraplegia 23 (15.28)
? - (1q24-q32)

692Spastic paraplegia 24 (15.29)
? - (13q14)

693Spastic paraplegia 25 (15.30)
? - (6q23.3-q24.1)

694Spastic paraplegia 26 (15.31)
B4GALNT1 (12q13.3)
beta-1,4-N-acetyl-galactosaminyl transferase 1



695Spastic paraplegia 27 (15.32)
? - (10q22-q24)

696Spastic paraplegia 29 (15.11)
? - (1p31-p21)

697Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.79)
ATL1 (14q22.1)
Atlastin GTPase 1



698Spastic paraplegia 30 (15.34, 14.83)
KIF1A (2q37.3)
Kinesin family member 1A



699Spastic paraplegia 31 (15.12, 12.16)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



700spastic paraplegia 32, autosomal recessive (15.35)
? - (14q12-q21)

701Spastic paraplegia 33 (15.13)
ZFYVE27 (10q24.2)
Protrudin



702Spastic paraplegia 34, X-linked (15.66)
? - (Xq24-q25)

703Spastic paraplegia 35, autosomal recessive (15.36)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



704Spastic paraplegia 36, autosomal dominant (15.14)
? - (12q23-q24)

705Spastic paraplegia 37, autosomal dominant (15.15)
? - (8p21.1-q13.3)

706Spastic paraplegia 38, autosomal dominant (15.16)
? - (4p16-p15)

707Spastic paraplegia 39, autosomal recessive (15.37)
PNPLA6 (19p13.3-p13.2)
Patatin-like phospholipase domain containing 6



708Spastic paraplegia 41, autosomal dominant (15.17)
? - (11p14.1-p11.2)

709Spastic paraplegia 42, autosomal dominant (15.18)
SLC33A1 (3q25.3)
Solute carrier family 33 (acetyl- CoA transporter)



710Spastic paraplegia 43, autosomal recessive (15.38)
C19orf12 (19q12)
chromosome 19 open reading frame 12(M)



711Spastic paraplegia 44, autosomal recessive (15.39)
GJC2 (1q42.13)
gap junction protein, gamma 2, 47kDa



712Spastic paraplegia 45, autosomal recessive (15.40)
NT5C2 (10q24-q32)
5'-nucleotidase, cytosolic II



713Spastic paraplegia 46, autosomal recessive (15.41)
GBA2 (9p13.3)
glucosidase, beta (bile acid) 2



714Spastic paraplegia 47, autosomal recessive (15.42)
AP4B1 (1p13.2)
adaptor-related protein complex 4, beta 1 subunit



715Spastic paraplegia 48, autosomal recessive (15.43)
AP5Z1 (7p22.2)
Hypothetical protein LOC9907 ?



716Spastic paraplegia 49, autosomal recessive (15.44)
TECPR2 (14q32)
tectonin beta-propeller repeat containing 2



717Spastic paraplegia 50, autosomal recessive (15.45)
AP4M1 (7q22.1)
Adaptor-related protein complex 4, mu 1 subunit



718Spastic paraplegia 51, autosomal recessive (15.46)
AP4E1 (15q21.2)
Adaptor-related protein complex 5, zeta 1 subunit



719Spastic paraplegia 52, autosomal recessive (15.47)
AP4S1 (14q12)
adaptor-related protein complex 4, sigma 1 subunit



720Spastic paraplegia 53, autosomal recessive (15.48)
VPS37A (8p22)
Vacuolar protein sorting-associated protein 37A



721Spastic paraplegia 54, autosomal recessive (15.49)
DDHD2 (8p11.23)
DDHD domain containing 2



722Spastic paraplegia 55, autosomal recessive (15.50)
C12orf65 (12q24.31)
adaptor-related protein complex 4, sigma 1 subunit(M)



723Spastic paraplegia 56, autosomal recessive (15.51)
CYP2U1 (4q25)
cytochrome P450, family 2, subfamily U, polypeptide 1



724Spastic paraplegia 57, autosomal recessive (14.63, 15.52)
TFG (3q13)
TRK-fused gene



725Spastic paraplegia 61, autosomal recessive (15.53)
ARL6IP1 (16p12.3)
ADP-ribosylation factor-like 6 interacting protein 1



726Spastic paraplegia 62 autosomal recessive (15.54)
ERLIN1 (10q24.31)
ER lipid raft associated 1 (Erlin-1)



727Spastic paraplegia 63, autosomal recessive (15.55)
AMPD2 (1p13.3)
adenosine monophosphate deaminase 2



728Spastic paraplegia 64, autosomal recessive (15.56)
ENTPD1 (10q24.1)
ectonucleoside triphosphate diphosphohydrolase 1



729Spastic paraplegia 74, autosomal recessive (15.57)
IBA57 (1q42.13)
IBA57 homolog, iron-sulfur cluster assembly (M)



730Spastic paraplegia 75, autosomal recessive (15.58)
MAG (19q13.12)
myelin associated glycoprotein



731Spastic paraplegia 76, autosomal recessive (15.59)
CAPN1 (11q13.1)
Calpain 1



732Spastic paraplegia 77, autosomal recessive (15.60)
FARS2 (6p25.1)
Phenylalanine--tRNA ligase(M)



733Spastic paraplegia 9A, autosomal recessive (15.5, 15.21)
ALDH18A1 (10q24.1)
Delta-1-pyrroline-5-carboxylate synthase(M)



734Spheroid body myopathy (1.13, 5.6, 5.7, 4.9)
MYOT (5q31)
Myotilin



735Spinal and bulbar muscular atrophy of Kennedy (12.65)
AR (Xq11.2-q12)
Androgen receptor



736Spinal motor neuropathy (12.23)
RBM7 (11q23.2)
RNA binding motif protein 7



737Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



738Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



739Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



740Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



741Spinal muscular atrophy and cerebellar hypoplasia (12.33)
EXOSC8 (13q13.1)
Exosome component 8



742Spinal muscular atrophy congenital non progressive of lower limbs (12.24, 12.25, 14.43)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



743Spinal muscular atrophy with congenital bone fractures 1 (2.47, 12.34)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



744Spinal muscular atrophy with congenital bone fractures 2 (12.35)
ASCC1 (10q22.1)
activating signal cointegrator 1 complex subunit 1



745Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.69)
EXOSC3 (9p13.2)
Exosome component 3



746Spinal muscular atrophy with progressive myoclonic epilepsy (12.29)
ASAH1 (8p22)
N-acylsphingosine amidohydrolase (acid ceramidase) 1



747Spinal muscular atrophy with respiratory distress (12.5, 14.75)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



748Spinal muscular atrophy, congenital benin, with contractures (12.24, 12.25, 14.43)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



749Spinal muscular atrophy, distal related to DNAJB2 (12.22, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



750spinal muscular atrophy, distal, autosomal recessive, 2 (12.6)
? - (9p21)

751spinal muscular atrophy, distal, autosomal recessive, 3 (12.7)
? - (11q13)

752spinal muscular atrophy, distal, autosomal recessive, 4 (12.8, 14.73)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



753Spinal muscular atrophy, distal, autosomal recessive, 5 (12.22, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



754Spinal muscular atrophy, distal, type V (14.44, 12.14)
GARS (7p15)
Glycyl-tRNA synthetase



755Spinal muscular atrophy, distal, x-linked 3 (12.21)
ATP7A (Xq13-q21)
ATPase, Cu++ transporting, alpha polypeptide



756Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.20)
UBA1 (Xp11.23)
Ubiquitin-activating enzyme 1



757Spinal muscular atrophy, late-onset, Finkel type (12.46, 12.30)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



758Spinal muscular atrophy, lower extremity, autosomal dominant (14.54, 12.26)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



759Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.27)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



760Spinocerebellar ataxia 1 (13.1)
ATXN1 (6p23)
Ataxin 1



761Spinocerebellar ataxia 2 (13.2, 12.51)
ATXN2 (12q24.1)
Ataxin 2



762Spinocerebellar ataxia 3 (13.3)
ATXN3 (14q24.3-q32.2)
Ataxin 3



763Spinocerebellar ataxia 4 (13.4)
? - (16q22.1)

764Spinocerebellar ataxia 5 (13.5)
SPTBN2 (11q13)
Spectrin, beta, non-erythrocytic 2



765Spinocerebellar ataxia 6 (7.9, 13.6, 13.45, 7.10, 13.40)
CACNA1A (19p13.2-p13.1)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



766Spinocerebellar ataxia 7 (13.7)
ATXN7 (3p21.1-p12)
Ataxin 7



767Spinocerebellar ataxia 8 (13.8)