Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1ACAD9-deficient mild myopathy (9.24)
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 (9.23)
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 (14.98)
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 (12.40)
? - (18q21)

9Amyotrophic lateral sclerosis (12.46, 12.32)
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 1 (12.37, 12.38)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



13amyotrophic lateral sclerosis 10 (12.48)
TARDBP (1p36.2)
TAR DNA binding protein



14Amyotrophic lateral sclerosis 11 (14.29, 12.49)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



15Amyotrophic lateral sclerosis 12 (12.50)
OPTN (10p14)
Optineurin



16Amyotrophic lateral sclerosis 13 (13.2, 12.51)
ATXN2 (12q24.1)
Ataxin 2



17Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.25, 4.17, 12.52, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



18Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.53)
UBQLN2 (Xp11.21)
Ubiquilin 2



19Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.54)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



20Amyotrophic lateral sclerosis 17 (12.55)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



21Amyotrophic lateral sclerosis 18 (12.56)
PFN1 (17p13.2)
Profilin 1



22Amyotrophic lateral sclerosis 19 (12.57)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



23Amyotrophic lateral sclerosis 20 (3.36, 12.58)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



24Amyotrophic lateral sclerosis 22 (12.60)
TUBA4A (2q35)
Tubulin, Alpha-4A



25Amyotrophic lateral sclerosis 5 (15.22, 12.43, 14.78)
SPG11 (15q21.1)
Spatacsin



26Amyotrophic lateral sclerosis 5 (
? - (15q15-q21)

27amyotrophic lateral sclerosis 9 (12.47)
ANG (14q11.2)
Angiogenin



28Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.33, 12.65, 16.30)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



29Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.64)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.66)
SQSTM1 (5q35.3)
Sequestosome 1



31Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.37, 12.38)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



32Amyotrophic lateral sclerosis, juvenile (12.39, 15.62)
ALS2 (2q33.2)
Alsin



33Andermann syndrome (14.98)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



34Arrhythmogenic right ventricular cardiomyopathy 2 (10.87, 10.98)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



35Arrhythmogenic right ventricular cardiomyopathy 3 (10.88)
? - (14q12-q22)

36Arrhythmogenic right ventricular cardiomyopathy 4 (10.89)
? - (2q32.1-q32.3)

37Arrhythmogenic right ventricular cardiomyopathy 6 (10.91)
? - (10p14-p12)

38Arrhythmogenic right ventricular dysplasia 2 (10.87, 10.98)
RYR2 (1q42.1-q43)
Ryanodine receptor 2



39Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.2, 1.17, 10.41, 1.38)
DES (2q35)
Desmin



40Arrhythmogenic right ventricular dysplasia-3 (10.88)
? - (14q12-q22)

41Arrhythmogenic right ventricular dysplasia, 1 (10.86)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



42Arrhythmogenic right ventricular dysplasia, 10 (10.94, 10.59)
DSG2 (18q12.1)
Desmoglein 2



43Arrhythmogenic right ventricular dysplasia, 11 (10.95)
DSC2 (18q12.1)
Desmocollin 2



44Arrhythmogenic right ventricular dysplasia, 8 (10.92)
DSP (6p24)
Desmoplakin



45Arrhythmogenic right ventricular dysplasia, 9 (10.93)
PKP2 (12p11)
Plakophilin 2



46Arrhythmogenic right ventricular dysplasia, familial, 1 (10.86)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



47arrhythmogenic right ventricular dysplasia, familial, 12 (10.103, 10.96)
JUP (17q21)
Junction plakoglobin



48Arrhythmogenic right ventricular dysplasia, familial, 13 (10.97)
CTNNA3 (10q21.3)
Catenin alpha 3



49Arrhythmogenic right ventricular dysplasia, familial, 4 (10.89)
? - (2q32.1-q32.3)

50arrhythmogenic right ventricular dysplasia, familial, 5 (10.90, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



51Arrhythmogenic right ventricular dysplasia, familial, 6 (10.91)
? - (10p14-p12)

52arrhythmogenic right ventricular dysplasia, familial, 7 (5.5)
? - (10q22)

53Arthrogryposis multiplex congenita with cerebral and cerebellar atrophy (16.15)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



54Arthrogryposis, distal, type 1A (3.4, 3.37, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



55Arthrogryposis, distal, type 2A (16.9, 16.12)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



56arthrogryposis, distal, type 2B (3.4, 3.37, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



57Arthrogryposis, distal, type 2B (16.10)
TNNI2 (11p15.5)
Troponin I, type 2



58Arthrogryposis, distal, type 2B (16.11)
TNNT3 (11p15.5)
Troponin T3, skeletal



59Arthrogryposis, distal, type 2B (16.9, 16.12)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



60Asymmetric septal hypertrophy (10.50, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



61ataxia telangiectasia (13.63)
ATM (11q22.3)
Ataxia telangiectasia mutated



62ataxia telangiectasia-like disorder (13.64)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



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



64ATAXIA-oculomotor apraxia 2 (12.41, 13.51)
SETX (9q34.13)
Senataxin



65Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.50)
APTX (9p13.3)
Aprataxin



66Ataxia, 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)



67ataxia, spastic, 1, autosomal dominant (15.67, 11.34)
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



68ataxia, spastic, 2, autosomal recessive (15.68)
KIF1C (17p13.2)
kinesin family member 1C



69ATFB18 (10.140)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



70atrial fibillation, familial, 8 (10.131)
? - (16q22)

71Atrial fibrillation, 1 (10.124)
? - (10q22-q24)

72Atrial fibrillation, 13 (10.145, 10.135)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



73Atrial fibrillation, 14 (10.136)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



74Atrial fibrillation, 15 (10.137)
NUP155 (5p13.2)
Nucleoporin 155 kDa



75Atrial fibrillation, 16 (10.147, 10.138)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



76Atrial fibrillation, 17 (10.113, 10.139)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



77Atrial fibrillation, 2 (10.125)
? - (10q22-q24)

78Atrial fibrillation, 3 (10.122, 10.104, 7.17, 7.16, 10.126, 10.120)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



79Atrial fibrillation, 4 (7.18, 10.109, 10.123, 10.127)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



80Atrial fibrillation, 9 (7.14, 10.110, 10.121, 10.132)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



81atrial fibrillation, familial (10.130)
KCNA5 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 5



82atrial fibrillation, familial, 1 (10.133, 10.134)
GJA5 (1q21.1)
Connexin 40



83atrial fibrillation, familial, 5 (10.128)
? - (4q25)

84atrial fibrillation, familial, 6 (10.129)
NPPA (1p36)
Natriuretic peptide precursor A



85Autophagic vacuolar myopathy (5.14)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



86Autosomal dominant early-onset proximal spinal muscular atrophy (12.34)
? - (14q)

87Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



88Autosomal recessive CMT axonal type 2S (12.5, 14.76)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



89Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.70)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



90Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.72, 13.65)
SACS (13q12)
Sacsin



91autosomal recessive spastic ataxia with leukoencephalopathy (15.69)
MARS2 (2q33-34)
methionyl-tRNA synthetase 2, mitochondrial(M)



92Axonal neuropathy intermediate recessive C (
93Axonal neuropathy intermediate recessive C (12.8, 14.73)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



94Axonal neuropathy recessive (14.72)
KARS (16q23.1)
Lysyl-tRNA synthetase



95Axonal neuropathy with myotonia (14.71)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



96Barth syndrome (10.75, 10.83)
TAZ (Xq28)
Tafazzin



97Becker muscular distrophy (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



98Bethlem myopathy (2.8, 2.4)
COL6A3 (2q37)
Alpha 3 type VI collagen



99Bethlem myopathy (2.2, 2.6)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



100Bethlem myopathy (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



101Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



102Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



103Brown-Vialetto-Van Laere syndrome 1 (12.74)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



104Brown-Vialetto-Van Laere syndrome 2 (12.75)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



105Brugada syndrome (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



106brugada syndrome 2 (10.142)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



107brugada syndrome 3 (10.111, 10.143)
CACNA1C (12p13.3)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



108brugada syndrome 4 (10.144)
CACNB2 (10p12)
Calcium channel, voltage-dependent, beta 2 subunit



109Brugada syndrome 5 (10.145, 10.135)
SCN1B (19q13.12)
Sodium channel, voltage-gated, type I, beta subunit



110Brugada syndrome 6 (7.11, 10.146)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



111Brugada syndrome 7 (10.147, 10.138)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



112Brugada syndrome 8 (10.150, 10.148)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



113Brugada syndrome 9 (13.17, 10.149)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



114Cap myopathy, TPM2-related, included (3.4, 3.37, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



115Cardiac and skeletal aggregate myopathy (5.10)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



116Cardiac and skeletal aggregate myopathy (5.10)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



117Cardiac conduction defect, progressive (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



118cardiac valvular dysplasia, x-linked (10.85)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



119Cardimyopathy, dilated, 1A (10.4, 3.42, 10.69)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



120Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



121cardiomyopathy, dilated 1C (5.4, 10.36, 4.12, 10.25)
LDB3 (10q22)
LIM domain binding 3



122Cardiomyopathy, dilated, 1A (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



123Cardiomyopathy, dilated, 1CC (10.60, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



124Cardiomyopathy, dilated, 1D (10.2, 10.37)
TNNT2 (1q32)
Troponin T2, cardiac



125Cardiomyopathy, dilated, 1DD (10.61)
RBM20 (10q25.3)
RNA binding motif protein 20



126Cardiomyopathy, dilated, 1E (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



127Cardiomyopathy, dilated, 1EE (10.1, 10.62, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



128Cardiomyopathy, dilated, 1G (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



129Cardiomyopathy, dilated, 1GG (10.63)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



130Cardiomyopathy, dilated, 1H (10.40)
? - (2q14-q22)

131Cardiomyopathy, dilated, 1J (10.42)
EYA4 (6q23-24)
Eyes absent 4



132Cardiomyopathy, dilated, 1K (10.43)
? - (6q12-q16)

133Cardiomyopathy, dilated, 1M (10.45, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



134Cardiomyopathy, dilated, 1O (10.47)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



135Cardiomyopathy, dilated, 1P (10.48, 10.19)
PLN (6q22.1)
Phospholamban



136Cardiomyopathy, dilated, 1Q (10.49)
? - (7q22.3-q31.1)

137Cardiomyopathy, dilated, 1R (10.50, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



138Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.31, 10.51, 3.32, 3.16)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



139Cardiomyopathy, dilated, 1T (10.52)
TMPO (12q22)
Lamina-associated polypeptide 2



140Cardiomyopathy, dilated, 1W (10.53)
PSEN2 (1q42.13)
Presenilin 2



141Cardiomyopathy, dilated, 1W (10.14, 10.54)
VCL (10q22.1-q23)
Vinculin



142Cardiomyopathy, dilated, 1X (2.19, 2.20, 10.55, 1.33)
FKTN (9q31-q33)
Fukutin



143Cardiomyopathy, dilated, 1Y (10.3, 10.56)
TPM1 (15q22)
Tropomyosin 1 (alpha)



144Cardiomyopathy, dilated, 1Z (10.12, 10.57)
TNNC1 (3p21.3-p14.3)
Slow troponin C



145Cardiomyopathy, dilated, 2B (10.74)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



146Cardiomyopathy, Dilated, 3B (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



147Cardiomyopathy, dilated, X-linked (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



148Cardiomyopathy, familial dilated, 1 (10.35)
? - (9q13)

149cardiomyopathy, familial hypertrophic (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



150cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



151Cardiomyopathy, familial hypertrophic (10.6, 10.80, 10.73)
TNNI3 (19q13.4)
Troponin I, cardiac



152Cardiomyopathy, familial hypertrophic 1 (10.1, 10.62, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



153Cardiomyopathy, familial hypertrophic 20 (10.60, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



154cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.31, 10.51, 3.32, 3.16)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



155Cardiomyopathy, familial hypertrophic, 10 (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



156Cardiomyopathy, familial hypertrophic, 11 (10.50, 10.10)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



157Cardiomyopathy, familial hypertrophic, 12 (10.45, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



158Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.54)
VCL (10q22.1-q23)
Vinculin



159Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



160Cardiomyopathy, familial hypertrophic, 17 (10.18)
JPH2 (20q13.12)
Junctophilin-2



161Cardiomyopathy, familial hypertrophic, 18 (10.48, 10.19)
PLN (6q22.1)
Phospholamban



162Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.37)
TNNT2 (1q32)
Troponin T2, cardiac



163Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.56)
TPM1 (15q22)
Tropomyosin 1 (alpha)



164Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.42, 10.69)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



165Cardiomyopathy, familial hypertrophic, 9 (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



166Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



167Cardiomyopathy, familial restrictive (10.6, 10.80, 10.73)
TNNI3 (19q13.4)
Troponin I, cardiac



168Cardiomyopathy, hypertrophic, mid-left ventricular chamber type (10.9)
MYL2 (12q23-q24.3)
Myosin light chain 2



169Cardiomyopathy, X-linked dilated (10.75, 10.83)
TAZ (Xq28)
Tafazzin



170Carnitine deficiency, systemic primary (9.18)
SLC22A5 (5q31)
Solute carrier family 22 member 5



171Carnitine-acylcarnitine translocase deficiency (9.19)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



172Central core disease (8.1, 3.25, 3.26, 3.40, 3.21, 3.15, 5.27, 3.24)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



173Centronuclear myopathy related to TTN (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



174Centronuclear myopathy with dilated cardiomyopathy (3.23)
SPEG (2q35)
SPEG complex locus



175centronuclear myopathy, dominant (3.18, 2.16, 4.14, 14.13)
DNM2 (19p13.2)
Dynamin 2



176centronuclear myopathy, recessive (8.1, 3.25, 3.26, 3.40, 3.21, 3.15, 5.27, 3.24)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



177Centronuclear myopathy, related to BIN1, dominant (3.19, 3.20)
BIN1 (2q14)
Amphiphysin



178Centronuclear myopathy, related to BIN1, recessive (3.19, 3.20)
BIN1 (2q14)
Amphiphysin



179Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.68)
RNF216 (7p22.1)
Ring finger protein 216



180Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.27)
? - (3p26)

181Cerebellar 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



182Cerebellar 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



183Chanarin-Dorfman syndrome (9.25)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



184Charcot-Marie-Tooth 2 (14.58)
MARS (12q13.3)
methionyl-tRNA synthetase



185Charcot-Marie-Tooth disease with deafness and mental retardation (14.34, 16.34)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



186Charcot-Marie-Tooth disease, axonal (14.80)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



187Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.9, 10.64, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



188Charcot-Marie-Tooth disease, axonal, type 20 (14.55, 12.30)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



189Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



190Charcot-Marie-Tooth disease, axonal, type 2CC (12.61, 14.66)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



191Charcot-Marie-Tooth disease, axonal, type 2D (14.45, 12.19)
GARS (7p15)
Glycyl-tRNA synthetase



192Charcot-Marie-Tooth disease, axonal, type 2N (12.22, 14.54)
AARS (16q22.1)
Alanyl-tRNA synthetase



193Charcot-Marie-Tooth disease, congenital, vertical talus (14.8)
HOXD10 (2q31.1)
Homeobox D10



194Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



195Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.18, 14.52)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



196Charcot-Marie-Tooth disease, type 1A (14.1, 14.37, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



197Charcot-Marie-Tooth disease, type 1B (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



198Charcot-Marie-Tooth disease, type 1D (14.4, 14.24, 14.39)
EGR2 (10q21.1)
Early growth response 2 protein



199Charcot-Marie-Tooth disease, type 1E (14.1, 14.37, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



200Charcot-Marie-Tooth disease, type 1F (14.7, 14.46)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



201Charcot-Marie-Tooth disease, type 2A1 (14.41)
KIF1B (1p36.2)
Kinesin family member 1B(M)



202Charcot-Marie-Tooth disease, type 2B2 (14.69)
MED25 (19q13)
Mediator complex subunit 25



203Charcot-Marie-Tooth disease, type 2E (14.7, 14.46)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



204Charcot-Marie-Tooth disease, type 2I (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



205Charcot-Marie-Tooth disease, type 2J (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



206Charcot-Marie-Tooth disease, type 2K (14.18, 14.52)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



207Charcot-Marie-Tooth disease, type 4A (14.18, 14.52)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



208Charcot-Marie-Tooth disease, type 4B1 (14.19)
MTMR2 (11q22)
Myotubularin-related protein 2



209charcot-marie-tooth disease, type 4b2 (14.20)
SBF2 (11p15.4)
SET binding factor 2



210Charcot-Marie-Tooth disease, type 4D (14.23, 14.96)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



211Charcot-Marie-Tooth disease, type 4F (14.26, 14.40)
PRX (19q13)
Periaxin



212charcot-marie-tooth disease, type 4j (14.29, 12.49)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



213charcot-marie-tooth disease, x-linked recessive, 2 (14.32)
? - (Xp22.2)

214charcot-marie-tooth disease, x-linked recessive, 3 (14.33)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



215charcot-marie-tooth disease, x-linked recessive, 5 (14.35)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



216Charcot-Marie-Tooth neuropathy Type 2B (14.43)
RAB7A (3q21)
RAB7, member RAS oncogene family



217Charcot-Marie-Tooth neuropathy Type 2F (14.47, )
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



218Charcot-Marie-Tooth neuropathy Type 2G (14.48)
? - (12q12-q13)

219Charcot-Marie-Tooth neuropathy Type 2H (14.49)
? - (8q21.3)

220Charcot-Marie-Tooth neuropathy Type 2L (14.53, 12.15)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



221Charcot-Marie-Tooth neuropathy Type 2P (14.56)
LRSAM1 (9q33.3)
leucine rich repeat and sterile alpha motif containing 1



222Charcot-Marie-Tooth neuropathy Type 2Q (14.57)
DHTKD1 (10p14)
dehydrogenase E1 and transketolase domain containing 1



223Charcot-Marie-Tooth neuropathy Type 2R (14.75)
TRIM2 (4q31.3)
Tripartite motif containing 2



224Charcot-Marie-Tooth neuropathy Type 2T (14.77, 13.39)
MME (3q25.2)
membrane metallo-endopeptidase



225Charcot-Marie-Tooth neuropathy Type 2V (14.59)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



226Charcot-Marie-Tooth neuropathy Type 2W (14.60)
HARS (5q31.3)
histidyl-tRNA synthetase



227Charcot-Marie-Tooth neuropathy Type 2X (15.22, 12.43, 14.78)
SPG11 (15q21.1)
Spatacsin



228Charcot-Marie-Tooth neuropathy Type 2Y (5.25, 4.17, 12.52, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



229Charcot-Marie-Tooth neuropathy Type 2Z (14.62)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



230Charcot-Marie-Tooth neuropathy Type 4B3 (14.21)
SBF1 (22q13.33)
SET binding factor 1



231Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.24, 14.39)
EGR2 (10q21.1)
Early growth response 2 protein



232Charcot-Marie-Tooth neuropathy Type 4F (14.22)
SH3TC2 (5q32)
KIAA1985 protein



233Charcot-Marie-Tooth neuropathy Type 4G (14.27)
HK1 (10q22.1)
Hexokinase 1(M)



234Charcot-Marie-Tooth neuropathy Type 4H (14.28)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



235Charcot-Marie-Tooth neuropathy Type 4K (14.30)
SURF1 (9q34.2)
surfeit 1(M)



236Charcot-Marie-Tooth neuropathy Type F (14.17)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



237Charcot-Marie-Tooth neuropathy with glomerulopathy (14.16)
INF2 (14q32-33)
Inverted formin 2



238Charcot-Marie-Tooth neuropathy X-linked 6 (14.36)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



239charcot-marie-tooth neuropathy, dominant intermediate A (14.12, 14.11)
PMP2 (8q21.13)
peripheral myelin protein-2



240Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.14)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



241Charcot-Marie-Tooth neuropathy, with fibulin defect (14.10)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



242Charcot-Marie-Tooth neuropathy, X-linked (14.31, 14.39)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



243Charlevoix disease (14.98)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



244CMT recessive intermediate D (14.74)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



245CMT1 related to PMP2 (14.12, 14.11)
PMP2 (8q21.13)
peripheral myelin protein-2



246CMT2 related to KIF5A (15.6, 14.64)
KIF5A (12q13.13)
Kinesin family member 5A



247COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
collagen type XII alpha 1 chain



248Combined Oxidative phosphorylation Deficiency 6 (14.34, 16.34)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



249Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.72, 14.104)
VRK1 (14q32)
Vaccinia related kinase 1



250congenital cataracts, facial dysmorphism, and neuropathy (14.103)
CTDP1 (18q23)
CTD phosphatase subunit 1



251congenital lethal myopathy (3.43)
CNTN1 (12q11-q12)
Contactin-1



252Congenital muscle dystrophy with joint hyperlaxity (2.42)
? - (3p23-21)

253Congenital muscle dystrophy with mitochondrial structural abnormalities (2.43)
CHKB (22q13)
Choline kinase beta



254Congenital muscular dystrophy (2.44)
? - (1q42)

255Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.35)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



256Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



257Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.39, 2.46)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



258Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.34)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



259Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.36)
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



260Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.40)
POMK (8p11.21)
Protein-O-mannose kinase



261Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.38)
TMEM5 (12q14.2)
Transmembrane protein 5



262Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.36, 2.37)
DAG1 (3p21)
Dystroglycan1



263Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.39)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



264Congenital muscular dystrophy with integrin defect (2.15)
ITGA7 (12q13)
Integrin alpha 7 precursor



265Congenital muscular dystrophy with merosin deficiency (2.44)
? - (1q42)

266Congenital muscular dystrophy with rigid spine related to ACTA1 (3.12, 3.3, 3.39, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



267Congenital musuclar dystrophy with telethonin defect (1.27, 10.46, 2.17, 10.26)
TCAP (17q12)
Telethonin



268Congenital Myasthenia (11.32)
MYO9A (15q23)
myosin IXA



269Congenital myasthenic syndrome (11.23)
LRP4 (11p11.2)
LDL receptor related protein 4



270Congenital myasthenic syndrome related to ALG14 (11.21)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



271Congenital myasthenic syndrome related to ALG2 (11.20)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



272Congenital Myasthenic syndrome related to GMPPB (1.40, 2.41, 2.31, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



273Congenital myasthenic syndrome related to MuSK (11.15)
MUSK (9q31.3-q32)
muscle, skeletal, receptor tyrosine kinase



274Congenital myasthenic syndrome related to PREPL deficiency (11.28)
PREPL (2p22.1)
Prolyl endopeptidase-like



275Congenital myasthenic syndrome type 19 (11.29)
COL13A1 (10q22.1)
collagen type XIII alpha 1 chain



276Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



277Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.11)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



278Congenital myasthenic syndrome with episodic apnea (12.24, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



279Congenital myasthenic syndrome with intellectual disability and ataxia (11.24)
SNAP25 (20p12.2)
synaptosome associated protein 25



280Congenital myopathy related to PTPLA (3.45)
PTPLA (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



281Congenital myopathy with fatal cardiomyopathy (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



282Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.46)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



283congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.42, 10.69)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



284Cowchock syndrome (14.34, 16.34)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



285CPT deficiency, hepatic, type II (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



286CPVT5 (10.102)
TRDN (6q22.31)
Triadin



287CRASH syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



288CRASH syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



289Creatine phosphokinase, elevated serum (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



290Danon disease (5.12)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



291Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.42)
EYA4 (6q23-24)
Eyes absent 4



292Dejerine-Sottas neuropathy (14.4, 14.24, 14.39)
EGR2 (10q21.1)
Early growth response 2 protein



293Dejerine-Sottas neuropathy, autosomal recessive (14.26, 14.40)
PRX (19q13)
Periaxin



294Dejerine-Sottas syndrome (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



295Dejerine-Sottas Syndrome (14.1, 14.37, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



296Desmin-related myopathy (5.2, 1.17, 10.41, 1.38)
DES (2q35)
Desmin



297Desmin-related myopathy with Mallory bodies (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



298Dilated cardiomyopathy realted to GATAD1 (10.74)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



299Dilated cardiomyopathy related to alpha-crystallin (5.1, 10.65)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



300Dilated cardiomyopathy related to BAG3 (5.9, 10.64, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



301Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.72, 10.22)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



302Dilated Cardiomyopathy related to DOLK (10.79)
DOLK (9q34.13)
Dolichol kinase



303Dilated cardiomyopathy related to integrin-linked kinase (10.71)
ILK (11p15.5-p15.4)
Integrin-linked kinase



304Dilated cardiomyopathy related to laminin-alpha4 (10.66)
LAMA4 (6q21)
Laminin alpha 4



305Dilated cardiomyopathy related to MURC (10.78)
MURC (9q31.1)
Muscle-related coiled-coil protein



306Dilated cardiomyopathy related to MYBPC3 (10.4, 3.42, 10.69)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



307Dilated cardiomyopathy related to nesprin-1 (1.6, 13.57, 16.14, 10.77)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



308Dilated cardiomyopathy related to PRDM16 (10.68)
PRDM1 (1p36.32)
PR Domain-Containing Protein 16



309Dilated cardiomyopathy related to RAF1 (10.70)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



310dilated cardiomyopathy, 1aa (10.58, 10.24)
ACTN2 (1q42-q43)
Actinin alpha2



311Dilated cardiomyopathy, 1F (
? - (6q23)

312Dilated cardiomyopathy, 1I (5.2, 1.17, 10.41, 1.38)
DES (2q35)
Desmin



313Dilated Cardiomyopathy, 1L (1.26, 10.44)
SGCD (5q33-q34)
Delta-sarcoglycan



314Dilated cardiomyopathy, 1N (1.27, 10.46, 2.17, 10.26)
TCAP (17q12)
Telethonin



315Dilated cardiomyopathy, related to DSG2 (10.94, 10.59)
DSG2 (18q12.1)
Desmoglein 2



316Distal myopathy related to caveolin (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



317Distal myopathy related to VCP (5.25, 4.17, 12.52, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



318Distal Spinal Muscular Atrophy with Calf Predominance (12.18)
FBXO38 (5q32)
F-box protein 38



319Distal spinal muscular atrophy, type VB (15.12, 12.21)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



320Dominant distal hereditary motor neuropathy (12.22, 14.54)
AARS (16q22.1)
Alanyl-tRNA synthetase



321Dominant distal hereditary motor neuropathy (12.23)
WARS (14q32.2)
tryptophanyl-tRNA synthetase



322Duchenne muscular dystrophy (1.1, 10.76)
DMD (Xp21.2)
Dystrophin



323Dysmyelinating leukodystrophy (15.36)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



324Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



325Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



326Early onset axonal neuropathy with sensory ataxia (14.65)
DGAT2 (1q13.3)
diacylglycerol O-acyltransferase 2



327Early onset calf distal myopathy (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



328Early onset distal myopathy with KLHL9 mutations (4.15)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



329Early onset myopathy, areflexia, respiratory distress and dysphagia (3.29, 3.28)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



330Early-onset axonal Charcot-Marie-Tooth with ataxia (14.79)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



331Early-onset myofibrillar myopathy with PYRODX1 defect (5.28)
PYRODX1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



332Emery-Dreifuss Autosomal recessive (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



333Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



334Emery-dreifuss muscular dystrophy 4 (1.6, 13.57, 16.14, 10.77)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



335Emery-dreifuss muscular dystrophy 6 (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



336Emery-dreifuss muscular dystrophy 7 (10.90, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



337Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



338Endocardial fibroelastosis-2 (10.75, 10.83)
TAZ (Xq28)
Tafazzin



339Enolase deficiency (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



340Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.17, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



341episodic ataxia type 5, included (13.42)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



342episodic ataxia type 6 (13.43)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



343episodic ataxia type-3 (13.41)
? - (1q42)

344episodic ataxia type-7 (13.44)
? - (19q13)

345Episodic ataxia with myokymia (7.12, 13.34)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



346Episodic 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



347episodic muscle weakness, x-linked (5.24)
? - (Xp22.3)

348Escobar syndrome (multiple pterygium syndrome) (11.30)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



349Exertional myoglobinuria due to deficiency of LDH-A (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



350Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



351Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



352Familial amyotrophic lateral sclerosis (4.5, 12.59)
MATR3 (5q31)
Matrin 3



353Familial brachial plexus neuropathy (14.100)
SEPT9 (17q25)
Septin 9



354Familial dysautonomia (Riley-Day syndrome) (16.3, 14.90)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



355Familial hypertrophic cardiomyopathy, 13 (10.12, 10.57)
TNNC1 (3p21.3-p14.3)
Slow troponin C



356Familial hypertrophic cardiomyopathy, 14 (10.1, 10.62, 10.13)
MYH6 (14q12)
Myosin heavy chain 6



357Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.19)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



358Familial limb girdle myasthenia related to agrin (11.14)
AGRN (1p36.33)
Agrin



359Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



360Familial limb-girdle myasthenia related to DOK7 (11.16)
DOK7 (4p16.2)
Docking protein 7



361familial sinusal bradycardia (10.150, 10.148)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



362Familial spastic paraplegia, autosomal dominant, 1 (
363Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



364Fatty aldehyde dehydrogenase (15.61)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



365Fibrodysplasia ossificans progressiva (5.19)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



366Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



367Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



368Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24)
Tubulin, beta 3



369Friedreich ataxia (13.46)
FXN (9q13-q21.1)
Frataxin(M)



370friedreich ataxia 2 (13.47)
? - (9p23-p11)

371Friedreich ataxia with retained reflexes (13.46)
FXN (9q13-q21.1)
Frataxin(M)



372fukuyama congenital muscular dystrophy (2.19, 2.20, 10.55, 1.33)
FKTN (9q31-q33)
Fukutin



373Giant axonal neuropathy 2 (14.102)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



374Giant axonal neuropathy-1 (14.101)
GAN (16q24.1)
Gigaxonin



375Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



376Glycogen storage disease II (9.1, 10.82, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



377Glycogen storage disease IIb (5.12)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



378glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



379glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



380Glycogen storage disease type IIIa (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



381Glycogen storage disease type IIIb (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



382Glycogen storage disease type IIIc (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



383Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



384Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



385Glycogen storage disease X (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



386Glycogen storage disease XI (9.15)
LDHA (11p15.4)
Lactate dehydrogenase A



387Glycogen storage disease XIII (9.16)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



388Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



389Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



390glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



391GOLGA2-related congenital muscle dystrophy with brain involvement (2.47)
GOLGA2 (9q34.113)
golgin A2



392Hereditary bundle branch system defect (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



393Hereditary motor and sensory neuropathy – Lom (with deafness) (14.23, 14.96)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



394Hereditary motor and sensory neuropathy 2A (14.42)
MFN2 (1p36.22)
Mitofusin 2(M)



395Hereditary motor and sensory, neuropathy, proximal, type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



396Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



397Hereditary myopathy with early respiratory failure (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



398hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.82)
? - (3p24-p22)

399Hereditary sensory and autonomic neuropathy type IV (14.91)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



400Hereditary sensory and autonomic neuropathy type VI (14.93)
DST (6p12.1)
dystonin



401Hereditary sensory and autonomic neuropathy type VIII (14.95)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



402Hereditary sensory neuropathy type IF (14.85)
ATL3 (11q13.1)
atlastin GTPase 3



403Hereditary sensory neuropathy with dementia and hearing loss (14.97)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



404Hereditary sensory neuropathy, type IIB (14.87)
FAM134B (5p15.1)
family with sequence similarity 134 member B



405Hutchinson-Gilford progeria syndrome (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



406Hyalin body myopathy (3.30)
? - (3p22.2-p21.32)

407Hydrocephalus with Hirschspung disease and cleft palate (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



408Hyperckemia, idiopathic (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



409Hyperkalemic periodic paralysis (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



410Hyperkalemic periodic paralysis, type 2 (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



411Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



412Hypertrophic cardiomyopathy related to actinin-2 (10.58, 10.24)
ACTN2 (1q42-q43)
Actinin alpha2



413Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.72, 10.22)
ANKRD1 (10q23.33)
Ankyrin repeat domain 1 (cardiac muscle)



414Hypertrophic cardiomyopathy related to cardiac myopalladin (10.67, 3.11, 10.23)
MYPN (10q21.1)
Myopalladin



415Hypertrophic cardiomyopathy related to junctophilin (10.18)
JPH2 (20q13.12)
Junctophilin-2



416Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



417Hypertrophic cardiomyopathy related to nexilin (10.60, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



418Hypertrophic cardiomyopathy related to phospholamban (10.48, 10.19)
PLN (6q22.1)
Phospholamban



419Hypertrophic cardiomyopathy related to TCAP (1.27, 10.46, 2.17, 10.26)
TCAP (17q12)
Telethonin



420Hypertrophic cardiomyopathy related to ZASP (5.4, 10.36, 4.12, 10.25)
LDB3 (10q22)
LIM domain binding 3



421Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.31)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



422Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.30)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



423Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.27)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



424Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



425Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.46)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



426Hypokalaemic periodic paralysis, type 3 (7.11, 10.146)
KCNE3 (11q13-q14)
Potassium voltage-gated channel, Isk-related family, member 3



427Hypokalemic periodic paralysis (7.8, 8.5, 3.46)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



428Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.25, 4.17, 12.52, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



429Inclusion body myopathy, autosomal recessive (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



430Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



431Infantile-onset multisystem disease with progressive muscle weakness (16.37)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2



432Isolated inclusion body myopathy (3.36, 12.58)
HNRNPA1 (12q13.13)
heterogeneous nuclear ribonucleoprotein A1



433jervell and lange-nielsen syndrome (10.122, 10.104, 7.17, 7.16, 10.126, 10.120)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



434Jervell and Lange-Nielsen syndrome (10.108, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



435Kennedy disease (12.67)
AR (Xq11.2-q12)
Androgen receptor



436Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



437LAP1B related muscular dystrophy (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



438Late onset spinal muscular atrophy related to HEXB (12.76)
HEXB (5q13.3)
Hexosaminidase B



439late-onset spinal motor neuronopathy, Jokela type (12.33, 12.65, 16.30)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



440LEFT VENTRICULAR NONCOMPACTION 8 (10.68)
PRDM1 (1p36.32)
PR Domain-Containing Protein 16



441Left ventricular noncompaction with congenital heart defects (10.84)
DTNA (18q12)
Dystrobrevin, alpha



442Left ventricular noncompaction, familial isolated (10.84)
DTNA (18q12)
Dystrobrevin, alpha



443Lethal congenital contractural syndrome 3 (12.70)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



444Lethal congenital contracture syndrome 1 (12.68)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



445Lethal congenital contracture syndrome 2 (12.69)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



446Limb girdle muscular dystrophy 1D (autosomal dominant) (1.16)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



447Limb girdle muscular dystrophy 1E (autosomal dominant) (5.2, 1.17, 10.41, 1.38)
DES (2q35)
Desmin



448Limb girdle muscular dystrophy 2J (autosomal recessive) (5.16, 3.22, 4.2, 1.30, 10.39, 10.8, 3.41)
TTN (2q31)
Titin



449Limb girdle muscular dystrophy with ophthalmoplegia (5.17, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



450Limb-Girdle, Muscular dystrophy, type 1G (1.19)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



451Limb-girdle, muscular dystrophy, type 1h (1.20)
? - (3p23-p25)

452Limb-Girdle, Muscular dystrophy, type 2M (2.19, 2.20, 10.55, 1.33)
FKTN (9q31-q33)
Fukutin



453Limb-girdle, muscular dystrophy, type 2n (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



454Limb-girdle, muscular dystrophy, type 2o (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



455Limb-girdle, muscular dystrophy, type 2q (5.17, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



456Limb-Girdle, Muscular dystrophy, type 2R (5.2, 1.17, 10.41, 1.38)
DES (2q35)
Desmin



457Limb-Girdle, Muscular dystrophy, type 2S (1.39, 2.46)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11



458Limb-Girdle, Muscular dystrophy, type 2T (1.40, 2.41, 2.31, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



459Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.82, 1.42)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



460Limb-Girdle, Muscular dystrophy, type 2W (1.43)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



461Limb-Girdle, Muscular dystrophy, type 2X (1.44)
BVES (6q21)
blood vessel epicardial substance



462Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.45)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



463Limb-Girdle, Muscular dystrophy, type 2Z (1.46)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



464Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



465lipodystrophy, congenital generalized, type 4 (1.12)
PTRF (17q21-q23)
Polymerase I and transcript release factor(M)



466Lipodystrophy, familial partial, type 2 (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



467Long QT syndrome 10 (10.113, 10.139)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



468Long QT syndrome 11 (10.114)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



469Long QT syndrome 12 (10.115)
SNTA1 (20q11.21)
Syntrophin, alpha 1



470Long QT syndrome 13 (10.116)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



471Long QT syndrome 14 (10.101, 10.117)
CALM1 (14q32.11)
Calmodulin 1



472Long QT syndrome 15 (10.118)
CALM2 (2p21)
Calmodulin 2



473Long QT syndrome 9 (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



474Long QT syndrome-1 (10.122, 10.104, 7.17, 7.16, 10.126, 10.120)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



475Long QT syndrome-2 (10.105, 7.15, 10.119)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



476Long QT syndrome-3 (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



477Long QT syndrome-4 (10.107)
ANK2 (4q25-q27)
Ankyrin 2



478Long QT syndrome-5 (10.108, 7.19)
KCNE1 (21q22.1-q22.2)
Potassium voltage-gated channel, Isk-related family, member 1



479Long QT syndrome-6 (7.18, 10.109, 10.123, 10.127)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



480Long QT syndrome-7 (7.14, 10.110, 10.121, 10.132)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



481luma related muscular dystrophy (10.90, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



482Machado-Joseph disease (13.3)
ATXN3 (14q24.3-q32.2)
Ataxin 3



483Malignant hyperthermia susceptibility 1 (8.1, 3.25, 3.26, 3.40, 3.21, 3.15, 5.27, 3.24)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



484Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

485Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

486Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

487Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.46)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



488Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

489Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



490Marinesco-Sjogren syndrome (13.61)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



491MASA syndrome (15.63)
L1CAM (Xq28)
L1 cell adhesion molecule



492McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



493MELAS-like syndrome (16.36)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



494minicore myopathy with external ophthalmoplegia (8.1, 3.25, 3.26, 3.40, 3.21, 3.15, 5.27, 3.24)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



495Mitochondrial dna depletion syndrome, myopathic form (16.22, 13.29)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



496Mitochondrial dna depletion syndrome, myopathic form (16.23)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



497Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.29)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



498Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.33)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



499Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.32)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



500Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.28)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



501Mitochondrial myopathy (12.33, 12.65, 16.30)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



502Mitochondrial myopathy (16.25)
SLC25A42 (19p13.11)
solute carrier family 25 member 42(M)



503Mitochondrial myopathy and sideroblastic anemia 1 (16.29)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



504Mitochondrial myopathy with severe neurological manifestations (16.35)
TMEM65 (8q24.13)
Transmembrane Protein 65



505Miyoshi myopathy (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



506Motor neuropathy, distal, with vocal cord paralysis (12.24, 11.26)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



507Multiminicore disease, classical form (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



508Multiple acyl-coa dehydrogenase deficiency (9.22, 9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



509Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.20)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



510Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.21)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



511Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.22, 9.27)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



512Muscle dystrophy with congenital disorder of glycosylation (2.35)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



513Muscle dystrophy with congenital disorder of glycosylation, type Io (1.47)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



514Muscle hypertrophy (5.18)
MSTN (2q32.2)
Myostatin



515Muscle-eye-brain disease (1.40, 2.41, 2.31, 11.33)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



516Muscle-eye-brain disease (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



517Muscle-eye-brain disease (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



518Muscle-eye-brain disease (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



519Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



520Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.22, 2.30, 1.34)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



521Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



522Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



523Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



524Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



525Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.25, 1.41)
ISPD (7p21.2)
Isoprenoid synthase domain containing



526Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.20, 10.55, 1.33)
FKTN (9q31-q33)
Fukutin



527Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.28, 2.24, 1.35)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



528Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.33)
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



529Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



530Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.19, 2.20, 10.55, 1.33)
FKTN (9q31-q33)
Fukutin



531Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.36, 2.37)
DAG1 (3p21)
Dystroglycan1



532Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
? - (19p13)

533Muscular dystrophy, congenital Davignon-Chauveau type (2.48, 12.10)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



534Muscular dystrophy, congenital merosin-deficient (2.1)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



535Muscular dystrophy, congenital, due to ITGA7 deficiency (2.15)
ITGA7 (12q13)
Integrin alpha 7 precursor



536Muscular dystrophy, congenital, with cataracts and intellectual disability (2.49)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



537Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



538Muscular dystrophy, Limb-Girdle, type 1A (1.13, 5.6, 5.7, 4.9)
MYOT (5q31)
Myotilin



539Muscular dystrophy, limb-girdle, type 1B (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



540Muscular dystrophy, Limb-Girdle, Type 1F (1.18)
TNPO3 (7q32.1-q32.2)
Transportin 3



541Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

542Muscular dystrophy, limb-girdle, type 2A (1.21)
CAPN3 (15q15.1-q21.1)
Calpain 3



543Muscular dystrophy, limb-girdle, type 2B (4.1, 1.22)
DYSF (2p12-14)
Dysferlin



544Muscular dystrophy, limb-girdle, type 2C (1.23)
SGCG (13q12)
Gamma sarcoglycan



545Muscular dystrophy, limb-girdle, type 2D (1.24)
SGCA (17q21)
Alpha sarcoglycan



546Muscular dystrophy, limb-girdle, type 2E (1.25)
SGCB (4q12)
Beta sarcoglycan



547Muscular dystrophy, limb-girdle, type 2F (1.26, 10.44)
SGCD (5q33-q34)
Delta-sarcoglycan



548Muscular dystrophy, limb-girdle, type 2G (1.27, 10.46, 2.17, 10.26)
TCAP (17q12)
Telethonin



549Muscular dystrophy, limb-girdle, type 2H (1.28, 3.44)
TRIM32 (9q33.2)
Tripartite motif-containing 32



550Muscular dystrophy, limb-girdle, type 2I (2.32, 1.29, 2.23, 2.29)
FKRP (19q13.32)
Fukutin-related protein



551Muscular dystrophy, Limb-Girdle, type 2K (2.21, 1.31)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



552Muscular dystrophy, limb-girdle, type 2L (1.32, 4.13)
ANO5 (11p14-12)
Anoctamin 5



553Muscular dystrophy, limb-girdle, type IC (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



554Muscular dystrophy, rigid spine, 1 (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



555Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



556Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



557Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
Choline acetyltransferase isoform



558Myasthenia, familial infantil, 1 (
559Myasthenic syndrome, acetazolamide-responsive (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



560Myasthenic syndrome, congenital (11.17)
RAPSN (11p11.2-p11.1)
Rapsyn



561Myasthenic Syndrome, Congenital, 21, Presynaptic (11.27)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



562Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.19)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



563Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



564Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



565Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



566Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



567Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.13)
SYT2 (1q32.1)
Synaptotagmin II



568Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



569Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



570Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



571Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



572Myasthenic syndrome, with plectin defect (5.17, 1.37, 11.31, 1.49)
PLEC (8q24.3)
plectin



573Myoclonus-dystonia syndrome (16.2)
SGCE (7q21-q22)
Sarcoglycan, epsilon



574myofibrillar myopathy with bag3 defect (5.9, 10.64, 14.67)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



575myofibrillar myopathy ZASP-related (5.4, 10.36, 4.12, 10.25)
LDB3 (10q22)
LIM domain binding 3



576Myofibrillar myopathy, alpha-B crystallin related (5.1, 10.65)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



577Myofibrillar myopathy, myotilin related (1.13, 5.6, 5.7, 4.9)
MYOT (5q31)
Myotilin



578Myopathy due to CPT II deficiency (9.17)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



579Myopathy due to phosphoglycerate mutase deficiency (9.14)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



580Myopathy microfibrillar type 7 (5.11)
KY (3q22.2)
Kyphoscoliosis peptidase



581Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.34, 3.33, 3.35)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



582myopathy with deficiency of succinate dehydrogenase and aconitase (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



583myopathy with exercise intolerance, swedish type (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



584Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.34, 3.33, 3.35)
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



585myopathy with lactic acidosis, hereditary (5.26)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)(M)



586Myopathy, Congenital nonprogressive, with Moebius sequence and Robin sequence (3.51)
MYMK (9q34.2)
Myomaker



587Myopathy, congenital, With excess of muscle spindles (3.50)
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



588myopathy, congenital, with fiber-type disproportion (3.12, 3.3, 3.39, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



589myopathy, congenital, with fiber-type disproportion (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



590myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.31, 10.51, 3.32, 3.16)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



591myopathy, congenital, with fiber-type disproportion (8.1, 3.25, 3.26, 3.40, 3.21, 3.15, 5.27, 3.24)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



592Myopathy, Congenital, With Neuropathy And Deafness (3.47)
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



593Myopathy, Congenital, With Neuropathy And Deafness (3.48)
MAP3K20 (2q31.1)
Leucine Zipper-And Sterile Alpha Motif-Containing Kinase



594Myopathy, distal 1 (4.4, 10.1, 3.31, 10.51, 3.32, 3.16)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



595Myopathy, distal, 4 (5.8, 4.16)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



596Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.32)
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial(M)



597Myopathy, myofibrillar, 2 (5.1, 10.65)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



598Myopathy, myofibrillar, filamin C-related (5.8, 4.16)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



599Myopathy, 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



600Myopathy, 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



601Myopathy, X-linked, with excessive autophagy (5.13)
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



602myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



603Myosin storage myopathy (4.4, 10.1, 3.31, 10.51, 3.32, 3.16)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



604Myosin, heavy chain, perinatal (16.16)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



605Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



606Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



607Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



608Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



609Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



610Myotonic dystrophy, type 2 (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



611Myotubular myopathy, X-linked (3.17)
MTM1 (Xq28)
Myotubularin



612Myxomatous valvular dystrophy, X-ninked (10.85)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



613naxos disease (10.103, 10.96)
JUP (17q21)
Junction plakoglobin



614Nemaline myopathy (3.7)
CFL2 (14q12)
Cofilin 2 (muscle)



615Nemaline myopathy (3.9)
KLHL41 (2q31.1)
Kelch-like family member 41



616Nemaline myopathy (3.10)
LMOD3 (3p14.1)
Leiomodin 3 (fetal)



617Nemaline myopathy (10.67, 3.11, 10.23)
MYPN (10q21.1)
Myopalladin



618Nemaline myopathy 1, autosomal dominant (3.1, 3.14, 3.38)
TPM3 (1q21.2)
Tropomyosin 3



619Nemaline myopathy 2, autosomal recessive (3.2, 4.10)
NEB (2q22)
Nebulin



620Nemaline myopathy 3 (3.12, 3.3, 3.39, 2.45)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



621Nemaline myopathy 4 (3.4, 3.37, 16.8, 16.13)
TPM2 (9p13)
Tropomyosin 2 (beta)



622Nemaline myopathy 5 (3.5)
TNNT1 (19q13.4)
Slow troponin T



623Nemaline myopathy 6 (3.6)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



624Nemaline Myopathy with Cardiomyopathy (3.49)
MYO18B (22q12.1)
Myosin XVIIIB



625Nesprin-2 related muscular dystrophy (1.7)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)



626Neurodegeneration with brain iron accumulation 4 (15.38)
C19orf12 (19q12)
chromosome 19 open reading frame 12(M)



627Neuronopathy, distal hereditary motor, type I (12.14)
? - (7q34-q36)

628neuronopathy, distal hereditary motor, type IIC (12.17)
HSPB3 (5q11.2)
Heat shock 27kDa protein 3



629Neuronopathy, distal hereditary motor, type V (15.9, 12.20)
BSCL2 (11q12-q13.5)
Seipin



630Neuronopathy, distal hereditary motor, type VIIB (12.25, 12.63)
DCTN1 (2p13)
Dynactin 1



631Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.34, 16.34)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



632Neuropathy, congenital hypomyelinating (14.2, 14.38, 14.50, 14.51, 14.25, 14.15)
MPZ (1q22)
Myelin protein zero



633Neuropathy, congenital hypomyelinating (14.4, 14.24, 14.39)
EGR2 (10q21.1)
Early growth response 2 protein



634Neuropathy, distal hereditary motor type V (14.45, 12.19)
GARS (7p15)
Glycyl-tRNA synthetase



635Neuropathy, distal hereditary motor, type II (14.53, 12.15)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



636Neuropathy, distal hereditary motor, type IIB (14.47, )
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



637Neuropathy, distal hereditary motor, with pyramidal features (12.41, 13.51)
SETX (9q34.13)
Senataxin



638Neuropathy, hereditary motor and sensory, lom type (14.23, 14.96)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



639Neuropathy, hereditary motor and sensory, Okinawa type (14.63, 15.52)
TFG (3q13)
TRK-fused gene



640neuropathy, hereditary sensory and autonomic type v (14.92)
NGF (1p13.1)
Nerve growth factor (beta polypeptide)



641Neuropathy, hereditary sensory and autonomic, type 1 (14.81)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



642Neuropathy, hereditary sensory and autonomic, type IC (14.83)
SPTLC2 (14q24.3)
Serine palmitoyltransferase long chain base subunit 2



643neuropathy, hereditary sensory and autonomic, type iia (14.86)
WNK1 (12p.13)
WNK lysine deficient protein kinase 1



644Neuropathy, hereditary sensory and autonomic, type IID (14.89)
SCN9A (2q24.3)
sodium voltage-gated channel alpha subunit 9



645Neuropathy, hereditary sensory and autonomic, type III (16.3, 14.90)
IKBKAP (9q31-q33)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



646Neuropathy, hereditary sensory and autonomic, type VII (14.94)
SCN11A (3p22.2)
sodium voltage-gated channel alpha subunit 11



647Neuropathy, hereditary sensory, type 1 (14.81)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



648Neuropathy, hereditary sensory, type 1E (14.97)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



649Neuropathy, hereditary sensory, type ID (15.1, 14.84)
ATL1 (14q22.1)
Atlastin GTPase 1



650Neuropathy, hereditary sensory, type IIC (15.34, 14.88)
KIF1A (2q37.3)
Kinesin family member 1A



651Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.105)
CCT5 (5p15.2)
chaperonin containing TCP1 subunit 5



652Neuropathy, recurrent, with pressure palsies (14.1, 14.37, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



653Neutral lipid storage disease without ichthyosis (9.26)
PNPLA2 (1p15.5)
Adipose triglyceride lipase (desnutrin)



654Nonaka myopathy (4.3)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



655Noncompaction of left ventricular myocardium, isolated (10.75, 10.83)
TAZ (Xq28)
Tafazzin



656Oculopharyngeal muscular dystorphy (5.15)
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1



657Olivopontocerebellar atrophy I (13.1)
ATXN1 (6p23)
Ataxin 1



658Olivopontocerebellar atrophy II (13.2, 12.51)
ATXN2 (12q24.1)
Ataxin 2



659Olivopontocerebellar atrophy III (13.7)
ATXN7 (3p21.1-p12)
Ataxin 7



660Paramyotonia congenita of Von Eulenburg (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



661patient with HCM and isolated respiratory complex I deficiency (10.27)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



662Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (7.14, 10.110, 10.121, 10.132)
KCNJ2 (17q23)
Potassium inwardly-rectifying channel J2



663Peripheral neuropathy and deafness, autosomal dominant (14.99)
GJB3 (1p34.3)
Gap junction protein, beta 3, 31kDa (=connexin 31)



664Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (16.33)
FAM111B (11q12.1)
family with sequence similarity 111 member B



665Polyglucosan Body Myopathy 2 (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



666Polyglucosan storage myopathy (9.11)
RBCK1 (20p13)
RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1)



667Pontocerebellar hypoplasia type 1 (12.72, 14.104)
VRK1 (14q32)
Vaccinia related kinase 1



668posphoglycerate kinase deficiency (9.13)
PGK1 (Xq13)
Phosphoglycerate kinase 1



669Potassium-aggravated myotonia (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



670Presynaptic congenital myasthenic syndrome (15.67, 11.34)
VAMP1 (12p13)
vesicle associated membrane protein (synaptobrevin 1)



671Presynaptic congenital myasthenic syndrome (11.35)
LAMA5 (20q13.33)
Laminin, Alpha 5



672Primary lateral sclerosis, juvenile (12.39, 15.62)
ALS2 (2q33.2)
Alsin



673Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.17, 13.62)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



674Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.49, 16.19)
C10orf2 (10q24.31)
chromosome 10 open reading frame 2(M)



675Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.24, 16.21)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



676Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.18)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



677Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de (16.26)
OPA1 (3q28-q29)
optic atrophy 1(M)



678progressive external ophthalmoplegia, autosomal dominant, 4 (16.20)
POLG2 (17q24.1)
Mitochondrial DNA polymerase, accessory subunit(M)



679Progressive familial heart block, type I (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



680Proximal myotonic myopathy (6.2)
CNBP (3q21.3)
Cellular nucleic acid-binding protein



681Reccurrent myoglobinuria, autosomal recessive (9.28)
LPIN1 (2p25.1)
Lipin 1 (phosphatidic acid phosphatase 1)



682Recessive congenital myopathy with minicores (3.29, 3.28)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



683Recessive neonatal isolated DC (10.63)
SDHA (5p15)
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



684Refsum disease, adult (13.66)
PHYH (10q13)
Phytanoyl-CoA 2-hydroxylase



685Refsum disease, adult (13.67)
PEX7 (6q21-q22)
Peroxisomal biogenesis factor 7



686Restrictive cardiomyopathy, 2 (10.81)
? - (10)

687restrictive dermopathy (1.4, 1.14, 1.5, 10.34, 14.68, 2.18)
LMNA (1q22)
Lamin A/C



688Rigid spine syndrome (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



689Rigid spine syndrome (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



690Rigid 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



691Rigid spine syndrome related to SEPN1 (2.13, 5.3, 3.13, 3.27)
SEPN1 (1p36.13)
Selenoprotein N1



692Rippling muscle disease (1.15, 6.6, 5.20, 6.7, 4.11, 10.112, 10.16)
CAV3 (3p25)
Caveolin 3



693Rippling muscle disease (6.5)
? - (1q41)

694Romano-Ward syndrome (10.122, 10.104, 7.17, 7.16, 10.126, 10.120)
KCNQ1 (11p15.5)
Potassium voltage-gated channel, KQT-like subfamily, member 1



695Sarcotubular myopathy (1.28, 3.44)
TRIM32 (9q33.2)
Tripartite motif-containing 32



696Scapuloperoneal muscular dystrophy and dropped head syndrome (5.25, 4.17, 12.52, 1.48, 14.61)
VCP (9p13-p12)
Valosin-containing protein



697Scapuloperoneal myopathy, X-linked dominant (1.3, 5.21, 5.22, 2.14, 5.23)
FHL1 (Xq26.3)
Four and a half LIM domain 1



698Scapuloperoneal spinal muscular atrophy (12.27, 12.29, 14.44)
TRPV4 (12q23-q24)
Transient receptor potential cation channel, subfamily V, member 4



699Schwartz-Jampel syndrome, type 1 (6.8)
HSPG2 (1p36.1-p34)
Perlecan



700Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.17, 13.62)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



701Severe autosomal-recessive nemaline myopathy (3.8)
KLHL40 (2p22.1)
Kelch-like family member 40



702Short qt syndrome 1 (10.105, 7.15, 10.119)
KCNH2 (7q35-q36)
Voltage-gated potassium channel, subfamily H, member 2



703Sick Sinus Syndrome 1, autosomal recessive (10.106, 7.7, 10.38, 10.141, 10.151)
SCN5A (3p21)
Voltage-gated sodium channel type V alpha



704Sick Sinus Syndrome 2, autosomal dominant (10.150, 10.148)
HCN4 (15q24.1)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



705Sjogren-Larsson syndrome (15.61)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



706Slowed nerve conduction velocity, autosomal dominant (14.9)
ARHGEF10 (8p23)
Rho guanine nucleotide exchange factor 10



707Sodium-channel myasthenia (7.3, 7.5, 7.4, 7.6, 11.22)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



708Spastic ataxia 4 autosomal recessive (15.70)
MTPAP (10p12.1)
mitochondrial poly(A) polymerase(M)



709Spastic ataxia 5 autosomal recessive (13.26, 15.71)
AFG3L2 (18p11-q11)
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



710Spastic ataxia 6 autosomal recessive Charlevoix-Saguenay type (15.72, 13.65)
SACS (13q12)
Sacsin



711Spastic paralysis, infantile onset ascending (12.39, 15.62)
ALS2 (2q33.2)
Alsin



712Spastic paraplegia 2 (15.64)
PLP1 (Xq22)
Proteolipid protein 1



713Spastic paraplegia 3A (
714Spastic paraplegia 4 (15.2)
SPAST (2p24-p21)
Spastin



715Spastic paraplegia 5A (15.19)
CYP7B1 (8p12-q13)
Cytochrome P450, family 7, subfamily B, polypeptide 1



716Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3)
NIPA1 (15q11.2)
Non-imprinted in Prader-Willi/Angelman syndrome 1



717Spastic paraplegia 7 (15.20)
SPG7 (16q24.3)
Paraplegin(M)



718Spastic paraplegia 8 (15.4)
KIAA0196 (8q24.13)
Strumpellin



719Spastic paraplegia 9 (15.5, 15.21)
ALDH18A1 (10q24.1)
Delta-1-pyrroline-5-carboxylate synthase(M)



720Spastic paraplegia 10 (15.6, 14.64)
KIF5A (12q13.13)
Kinesin family member 5A



721Spastic paraplegia 11 (15.22, 12.43, 14.78)
SPG11 (15q21.1)
Spatacsin



722Spastic paraplegia 12 (15.7)
RTN2 (19q13)
Reticulon 2



723Spastic paraplegia 13 (15.8)
HSPD1 (2q33.1)
Heat shock 60kDa protein 1 (chaperonin)(M)



724Spastic paraplegia 14 (15.23)
? - (3q27-q28)

725Spastic paraplegia 15 (15.24)
ZFYVE26 (14q24.1)
Spastizin



726Spastic paraplegia 16 (15.65)
? - (Xq11.2)

727Spastic paraplegia 17 (15.9, 12.20)
BSCL2 (11q12-q13.5)
Seipin



728Spastic paraplegia 18 (15.25)
ERLIN2 (8p12-p11.21)
ER lipid raft associated 2



729Spastic paraplegia 19 (15.10)
? - (9q33-q34)

730Spastic paraplegia 20 (15.26)
SPG20 (13q12.3)
Spartin



731Spastic paraplegia 20 (15.27)
SPG21 (15q21-q22)
Maspardin



732Spastic paraplegia 20 (15.33)
DDHD1 (14q21)
DDHD domain containing 1



733Spastic paraplegia 23 (15.28)
? - (1q24-q32)

734Spastic paraplegia 24 (15.29)
? - (13q14)

735Spastic paraplegia 25 (15.30)
? - (6q23.3-q24.1)

736Spastic paraplegia 26 (15.31)
B4GALNT1 (12q13.3)
beta-1,4-N-acetyl-galactosaminyl transferase 1



737Spastic paraplegia 27 (15.32)
? - (10q22-q24)

738Spastic paraplegia 29 (15.11)
? - (1p31-p21)

739Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.84)
ATL1 (14q22.1)
Atlastin GTPase 1



740Spastic paraplegia 30 (15.34, 14.88)
KIF1A (2q37.3)
Kinesin family member 1A



741Spastic paraplegia 31 (15.12, 12.21)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



742spastic paraplegia 32, autosomal recessive (15.35)
? - (14q12-q21)

743Spastic paraplegia 33 (15.13)
ZFYVE27 (10q24.2)
Protrudin



744Spastic paraplegia 34, X-linked (15.66)
? - (Xq24-q25)

745Spastic paraplegia 35, autosomal recessive (15.36)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



746Spastic paraplegia 36, autosomal dominant (15.14)
? - (12q23-q24)

747Spastic paraplegia 37, autosomal dominant (15.15)
? - (8p21.1-q13.3)

748Spastic paraplegia 38, autosomal dominant (15.16)
? - (4p16-p15)

749Spastic paraplegia 39, autosomal recessive (15.37)
PNPLA6 (19p13.3-p13.2)
Patatin-like phospholipase domain containing 6



750Spastic paraplegia 41, autosomal dominant (15.17)
? - (11p14.1-p11.2)

751Spastic paraplegia 42, autosomal dominant (15.18)
SLC33A1 (3q25.3)
Solute carrier family 33 (acetyl- CoA transporter)



752Spastic paraplegia 43, autosomal recessive (15.38)
C19orf12 (19q12)
chromosome 19 open reading frame 12(M)



753Spastic paraplegia 44, autosomal recessive (15.39)
GJC2 (1q42.13)
gap junction protein, gamma 2, 47kDa



754Spastic paraplegia 45, autosomal recessive (15.40)
NT5C2 (10q24-q32)
5'-nucleotidase, cytosolic II



755Spastic paraplegia 46, autosomal recessive (15.41)
GBA2 (9p13.3)
glucosidase, beta (bile acid) 2



756Spastic paraplegia 47, autosomal recessive (15.42)
AP4B1 (1p13.2)
adaptor-related protein complex 4, beta 1 subunit