Disease phenotype
OMIM
Gene symbol (chromosome)
protein
1Absence of pain, Congenital (14.117)
CLTCL1 (22q11.21)
Clathrin, heavy polypeptide-like 1



2Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.51, 7.10, 13.46)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



3Acyl-CoA dehydrogenase (very long chain) deficiency (9.25)
ACADVL (17p13)
Acyl-Coenzyme A dehydrogenase, very long chain(M)



4Adult onset distal myopathy (4.7)
? - (8p22-q11)

5Agenesis of the corpus callosum with peripheral neuropathy (14.123)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



6Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



7Amyotrophic lateral sclerosis (12.49)
? - (18q21)

8Amyotrophic lateral sclerosis (12.54, 12.37)
VAPB (7p15)
Vesicle-associated membrane protein-associated protein B and C



9Amyotrophic lateral sclerosis (12.53)
? - (20p13)

10Amyotrophic lateral sclerosis (12.52)
FUS (16q12)
Fusion (involved in t(12;16) in malignant liposarcoma)



11Amyotrophic lateral sclerosis (12.79)
LRP10 (14q11.2)
Low Density Lipoprotein Receptor-Related Protein 10



12Amyotrophic lateral sclerosis (14.100, 12.80)
SPTLC1 (9q22.2)
Serine palmitoyltransferase subunit 1



13Amyotrophic lateral sclerosis 1 (12.46, 12.47)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



14amyotrophic lateral sclerosis 10 (12.56)
TARDBP (1p36.2)
TAR DNA binding protein



15Amyotrophic lateral sclerosis 11 (14.33, 12.57)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



16Amyotrophic lateral sclerosis 12 (12.58)
OPTN (10p14)
Optineurin



17Amyotrophic lateral sclerosis 13 (13.2, 12.59)
ATXN2 (12q24.12)
Ataxin 2



18Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.34, 4.23, 12.60, 1.64, 14.66)
VCP (9p13-p12)
Valosin-containing protein



19Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.61)
UBQLN2 (Xp11.21)
Ubiquilin 2



20Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.62)
SIGMAR1 (9p13.3)
Sigma non-opioid intracellular receptor 1



21Amyotrophic lateral sclerosis 17 (12.63)
CHMP2B (3p11.2)
Charged multivesicular body protein 2B



22Amyotrophic lateral sclerosis 18 (12.64)
PFN1 (17p13.2)
Profilin 1



23Amyotrophic lateral sclerosis 19 (12.65)
ERBB4 (2q34)
V-ERB-B2 Avian Erythroblastic Leukemia Viral Oncogene Homolog 4



24Amyotrophic lateral sclerosis 20 (3.40, 12.66)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



25Amyotrophic lateral sclerosis 22 (12.68)
TUBA4A (2q35)
Tubulin, Alpha-4A



26Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.73, 12.71)
KIF5A (12q13.13)
Kinesin family member 5A



27Amyotrophic lateral sclerosis 5 (15.26, 12.51, 14.91)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



28amyotrophic lateral sclerosis 9 (12.55)
ANG (14q11.2)
Angiogenin



29Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.38, 12.76, 16.62)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



30Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.75, 12.109)
C9orf72 (9p21.2)
Chromosome 9 open reading frame 72



31Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.77, 4.24, 4.15)
SQSTM1 (5q35.3)
Sequestosome 1



32Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.78)
TBK1 (12q14.2)
Tank-binding kinase 1



33Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.46, 12.47)
SOD1 (21q22.1)
Superoxide dismutase 1, soluble



34Amyotrophic lateral sclerosis, juvenile (12.48, 15.69)
ALS2 (2q33.2)
Alsin Rho guanine nucleotide exchange factor 2



35Amyotrophic lateral sclerosis, susceptibility to, 24 (12.70)
NEK1 (4q33)
Never in motosis gene A-related kinase 1



36Amytrophic lateral sclerosis 23 (12.69, 12.105)
ANXA11 (10q23.3)
Annexin A11



37Andermann syndrome (14.123)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



38Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.148, 10.144)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



39Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.151, 10.162, 10.138)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



40Arrhythmogenic right ventricular cardiomyopathy 2 (10.112, 10.124)
RYR2 (1q43)
Ryanodine receptor 2



41Arrhythmogenic right ventricular cardiomyopathy 3 (10.113)
? - (14q12-q22)

42Arrhythmogenic right ventricular cardiomyopathy 4 (10.114)
? - (2q32.1-q32.3)

43Arrhythmogenic right ventricular cardiomyopathy 6 (10.116, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



44Arrhythmogenic right ventricular dysplasia 2 (10.112, 10.124)
RYR2 (1q43)
Ryanodine receptor 2



45Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.27, 10.46, 1.60, 5.15, 10.131, 11.44)
DES (2q35)
Desmin



46Arrhythmogenic right ventricular dysplasia-3 (10.113)
? - (14q12-q22)

47Arrhythmogenic right ventricular dysplasia, 1 (10.111)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



48Arrhythmogenic right ventricular dysplasia, 10 (10.119, 10.65)
DSG2 (18q12.1)
Desmoglein 2



49Arrhythmogenic right ventricular dysplasia, 11 (10.120)
DSC2 (18q12.1)
Desmocollin 2



50Arrhythmogenic right ventricular dysplasia, 8 (10.117)
DSP (6p24.3)
Desmoplakin



51Arrhythmogenic right ventricular dysplasia, 9 (10.118)
PKP2 (12p11.21)
Plakophilin 2



52Arrhythmogenic right ventricular dysplasia, familial, 1 (10.111)
TGFB3 (14q24.3)
Transforming growth factor, beta 3



53arrhythmogenic right ventricular dysplasia, familial, 12 (10.130, 10.121)
JUP (17q21.2)
Junction plakoglobin



54Arrhythmogenic right ventricular dysplasia, familial, 13 (10.122)
CTNNA3 (10q21.3)
Catenin alpha 3



55Arrhythmogenic right ventricular dysplasia, familial, 14 (10.123)
CDH2 (18q12.1)
Cadherin 2



56Arrhythmogenic right ventricular dysplasia, familial, 4 (10.114)
? - (2q32.1-q32.3)

57arrhythmogenic right ventricular dysplasia, familial, 5 (10.115, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



58Arrhythmogenic right ventricular dysplasia, familial, 6 (10.116, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



59arrhythmogenic right ventricular dysplasia, familial, 7 (
? - (10q22)

60Arthrogryposis and BICD2-related neuromuscular disease (12.35, 12.36, 16.23)
BICD2 (9q22.31)
Bicaudal D homolog 2 (Drosophila)



61Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.64, 16.22, 10.89)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



62Arthrogryposis related to ASCC1 (12.12, 16.24)
ASCC1 (10q22.1)
Activating signal cointegrator 1 complex subunit 1



63Arthrogryposis, distal type 11 (16.21)
MET (7q31.2)
MET protooncogene



64Arthrogryposis, distal, type 1B (16.10, 12.84)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



65Arthrogryposis, distal, type 3 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



66Arthrogryposis, distal, type 5 (16.16, 16.17)
PIEZO2 (18p11.22-p11.21)
Piezo-type mechanosensitive ion channel component 2



67Arthrogryposis, distal, type 10 (16.20)
? - (2q31.3-q32.1 )

68Arthrogryposis, distal, type 1A (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



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



70arthrogryposis, distal, type 2B (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



71Arthrogryposis, distal, type 2B (16.12)
TNNI2 (11p15.5)
Troponin I, type 2



72Arthrogryposis, distal, type 2B (16.13, 3.14)
TNNT3 (11p15.5)
Troponin T3, skeletal



73Arthrogryposis, distal, type 2B (16.11, 16.14)
MYH3 (17p13)
Myosine, heavy chain 3, skeletal muscle, embryonic



74Arthrogryposis, distal, type 5D (16.18)
ECEL1 (2q37.1)
Endothelin-converting enzyme like 1



75Asymmetric septal hypertrophy (10.55, 10.10, 10.103)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



76ataxia telangiectasia (13.93)
ATM (11q22.3)
Ataxia telangiectasia mutated



77ataxia telangiectasia-like disorder (13.94)
MRE11A (11q21)
MRE11 meiotic recombination 11 homolog A



78Ataxia telangiectasia-like disorder 2 (13.95)
PCNA (20p12.3)
Proloferating cell nuclear antigen



79Ataxia with isolated vitamin E deficiency (13.56)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



80Ataxia-pancytopenia syndrome (13.53, 13.45)
SAMD9L (7q21.2)
Sterile Alpha Motif Domain-Containing Protein 9-Like



81Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.58)
APTX (9p13.3)
Aprataxin



82Ataxia, Friedreich-like, with selective vitamin E deficiency (13.56)
TTPA (8q13.1-q13.3)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)



83Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.116)
FLVCR1 (1q32.3)
Feline leukemia subgroup C receptor 1



84ataxia, spastic, 1, autosomal dominant (15.76, 11.33)
VAMP1 (12p13)
Vesicle associated membrane protein (synaptobrevin 1)(M)



85ataxia, spastic, 2, autosomal recessive (15.77)
KIF1C (17p13.2)
kinesin family member 1C



86ATFB18 (10.171)
MYL4 (17q21.32)
Myosin, Light Chain 4, Alkali, Atrial, Embryonic



87atrial fibillation, familial, 8 (10.161)
? - (16q22)

88Atrial fibrillation , 12 (10.52, 10.165)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



89Atrial fibrillation, 1 (10.154)
? - (10q22-q24)

90Atrial fibrillation, 10 (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



91Atrial fibrillation, 13 (10.177, 10.166)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



92Atrial fibrillation, 14 (10.167)
SCN2B (11q23.3)
Sodium channel, voltage-gated, type II, beta subunit



93Atrial fibrillation, 15 (10.168)
NUP155 (5p13.2)
Nucleoporin 155 kDa



94Atrial fibrillation, 16 (10.179, 10.169)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



95Atrial fibrillation, 17 (10.141, 10.170)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



96Atrial fibrillation, 2 (10.155)
? - (10q22-q24)

97Atrial fibrillation, 3 (10.152, 10.132, 10.156, 10.150)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



98Atrial fibrillation, 4 (10.137, 10.157)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



99Atrial fibrillation, 9 (10.151, 10.162, 10.138)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



100atrial fibrillation, familial (10.160)
KCNA5 (12p13.32)
Potassium voltage-gated channel, shaker-related subfamily, member 5



101atrial fibrillation, familial, 1 (10.164, 10.172)
GJA5 (1q21.1)
Connexin 40



102atrial fibrillation, familial, 5 (10.158)
? - (4q25)

103atrial fibrillation, familial, 6 (10.159)
NPPA (1p36.22)
Natriuretic peptide precursor A



104Autophagic vacuolar myopathy (5.19)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)



105Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



106Autosomal recessive CMT axonal type 2S (12.5, 14.89)
IGHMBP2 (11q13.2-q13.4)
Immunoglobulin mu binding protein 2



107Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.82)
DNAJB2 (2q32-q34)
DnaJ (Hsp40) homolog, subfamily B, member 2



108Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.96, 14.95)
SACS (13q12)
Sacsin



109autosomal recessive spastic ataxia with leukoencephalopathy (15.78)
MARS2 (2q33-34)
Methionyl-tRNA synthetase 2, mitochondrial(M)



110Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.65, 16.74)
ADCK3 (1q42.13)
Coenzyme Q8A



111Axonal neuropathy intermediate recessive C (12.8, 14.86)
PLEKHG5 (1p36)
Pleckstrin homology domain containing, family G (with RhoGef domain) member 5



112Axonal neuropathy recessive (14.85)
KARS (16q23.1)
Lysyl-tRNA synthetase



113Axonal neuropathy with myotonia (14.83, 12.16)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



114Barth syndrome (10.87, 10.99)
TAZ (Xq28)
Tafazzin



115Becker muscular distrophy (1.1, 10.88)
DMD (Xp21.2)
Dystrophin



116Bethlem myopathy (2.8, 2.4, 1.54, 1.23)
COL6A3 (2q37)
Alpha 3 type VI collagen



117Bethlem myopathy (2.2, 2.6, 1.52, 1.21)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



118Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 1.53, 1.22, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



119Bethlem myopathy 2 (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



120Brody myopathy (6.9)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1



121Brown-Vialetto-Van Laere syndrome 1 (12.96)
SLC52A3 (20p13)
Solute carrier family 52, riboflavin transporter, member 3



122Brown-Vialetto-Van Laere syndrome 2 (12.97)
SLC52A2 (8q24)
Solute carrier family 52, riboflavin transporter, member 2



123Brugada syndrome (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



124Brugada syndrome (10.182)
TMEM168 (7q31.1 )
Transmembrane protein 168



125brugada syndrome 2 (10.174)
GPD1L (3p22.3)
Glycerol-3-phosphate dehydrogenase 1-like



126brugada syndrome 3 (10.139, 10.175)
CACNA1C (12p13.33)
Calcium channel, voltage-dependent, L type, alpha 1C subunit



127brugada syndrome 4 (10.176)
CACNB2 (10p12.33-p12.31 )
Calcium channel, voltage-dependent, beta 2 subunit



128Brugada syndrome 5 (10.177, 10.166)
SCN1B (19q13.11)
Sodium channel, voltage-gated, type I, beta subunit



129Brugada syndrome 6 (7.11, 10.178)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



130Brugada syndrome 7 (10.179, 10.169)
SCN3B (11 q24.1)
Sodium channel, voltage-gated, type III, beta subunit



131Brugada syndrome 8 (10.184, 10.180)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



132Brugada syndrome 9 (13.17, 10.181)
KCND3 (1p13.2)
Potassium voltage-gated channel, Shal-related subfamily, member 3



133Cap myopathy, TPM2-related, included (3.4, 3.42, 16.9, 16.15)
TPM2 (9p13)
Tropomyosin 2 (beta)



134Cardiac and skeletal aggregate myopathy (5.14)
TRIM54 (2p.23.3)
Tripartite motif-containing 54



135Cardiac and skeletal aggregate myopathy (5.14)
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase



136Cardiac conduction defect, progressive (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



137cardiac valvular dysplasia, x-linked (10.110)
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)



138Cardimyopathy, dilated, 1A (10.4, 3.46, 10.76, 10.109)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



139Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7)
MYL3 (3p21.3-p21.2)
Myosin light chain 3



140cardiomyopathy, dilated 1C (5.5, 10.41, 4.20, 10.26, 10.102)
LDB3 (10q22)
LIM domain binding 3



141Cardiomyopathy, dilated, 1A (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



142Cardiomyopathy, dilated, 1CC (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



143Cardiomyopathy, dilated, 1D (10.2, 10.42, 10.94, 10.105)
TNNT2 (1q32)
Troponin T2, cardiac



144Cardiomyopathy, dilated, 1DD (10.67)
RBM20 (10q25.3)
RNA binding motif protein 20



145Cardiomyopathy, dilated, 1E (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



146Cardiomyopathy, dilated, 1EE (10.1, 10.68, 10.13, 10.185)
MYH6 (14q12)
Myosin heavy chain 6



147Cardiomyopathy, dilated, 1FF (10.6, 10.92, 10.80, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



148Cardiomyopathy, dilated, 1G (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



149Cardiomyopathy, dilated, 1GG (10.70)
SDHA (5p15)
Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



150Cardiomyopathy, dilated, 1H (10.45)
? - (2q14-q22)

151Cardiomyopathy, dilated, 1J (10.47)
EYA4 (6q23-24)
Eyes absent 4



152Cardiomyopathy, dilated, 1K (10.48)
? - (6q12-q16)

153Cardiomyopathy, dilated, 1M (10.50, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



154Cardiomyopathy, dilated, 1O (10.52, 10.165)
ABCC9 (16p13.1)
ATP-binding cassette, sub-family C (member 9)



155Cardiomyopathy, dilated, 1P (10.53, 10.19)
PLN (6q22.1)
Phospholamban



156Cardiomyopathy, dilated, 1Q (10.54)
? - (7q22.3-q31.1)

157Cardiomyopathy, dilated, 1R (10.55, 10.10, 10.103)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



158Cardiomyopathy, dilated, 1S (4.6, 3.36, 10.56, 3.38, 3.19, 10.104, 3.65, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



159Cardiomyopathy, dilated, 1T (10.57)
TMPO (12q22)
Lamina-associated polypeptide 2



160Cardiomyopathy, dilated, 1U (10.58)
PSEN1 (14q24.2)
Presenilin 1



161Cardiomyopathy, dilated, 1W (10.59)
PSEN2 (1q42.13)
Presenilin 2



162Cardiomyopathy, dilated, 1W (10.14, 10.60)
VCL (10q22.1-q23)
Vinculin



163Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.61, 1.43)
FKTN (9q31-q33)
Fukutin



164Cardiomyopathy, dilated, 1Y (10.3, 10.62, 10.108)
TPM1 (15q22)
Tropomyosin 1 (alpha)



165Cardiomyopathy, dilated, 1Z (10.12, 10.63)
TNNC1 (3p21.3-p14.3)
Slow troponin C



166Cardiomyopathy, dilated, 2B (10.81)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



167Cardiomyopathy, Dilated, 3B (1.1, 10.88)
DMD (Xp21.2)
Dystrophin



168Cardiomyopathy, dilated, X-linked (1.1, 10.88)
DMD (Xp21.2)
Dystrophin



169Cardiomyopathy, familial dilated, 1 (10.40)
? - (9q13)

170cardiomyopathy, familial hypertrophic (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



171cardiomyopathy, familial hypertrophic (10.15)
MYLK2 (20q13.31)
Myosin light chain kinase 2



172Cardiomyopathy, familial hypertrophic (10.6, 10.92, 10.80, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



173Cardiomyopathy, familial hypertrophic 1 (10.1, 10.68, 10.13, 10.185)
MYH6 (14q12)
Myosin heavy chain 6



174Cardiomyopathy, familial hypertrophic 20 (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



175Cardiomyopathy, familial hypertrophic 27 (10.29)
ALPK3 (15q25.3)
Alpha kinase 3



176cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.36, 10.56, 3.38, 3.19, 10.104, 3.65, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



177Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.20)
MYL2 (12q23-q24.3)
Myosin light chain 2



178Cardiomyopathy, familial hypertrophic, 11 (10.55, 10.10, 10.103)
ACTC1 (15q11-q14)
Actin, alpha, cardiac muscle precursor



179Cardiomyopathy, familial hypertrophic, 12 (10.50, 10.11)
CSRP3 (11p15.1)
Cysteine and glycine-rich protein 3 (cardiac LIM protein)



180Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.60)
VCL (10q22.1-q23)
Vinculin



181Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



182Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.84)
JPH2 (20q13.12)
Junctophilin-2



183Cardiomyopathy, familial hypertrophic, 18 (10.53, 10.19)
PLN (6q22.1)
Phospholamban



184Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.42, 10.94, 10.105)
TNNT2 (1q32)
Troponin T2, cardiac



185Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.96)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



186Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.62, 10.108)
TPM1 (15q22)
Tropomyosin 1 (alpha)



187Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.46, 10.76, 10.109)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



188Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



189Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



190Cardiomyopathy, familial restrictive (10.6, 10.92, 10.80, 10.69)
TNNI3 (19q13.4)
Troponin I, cardiac



191Cardiomyopathy, hypertrophic, 10 (10.9, 3.20)
MYL2 (12q23-q24.3)
Myosin light chain 2



192Cardiomyopathy, X-linked dilated (10.87, 10.99)
TAZ (Xq28)
Tafazzin



193Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.53)
MYMK (9q34.2)
Myomaker



194Carnitine deficiency, systemic primary (9.20)
SLC22A5 (5q31)
Solute carrier family 22 member 5



195Carnitine-acylcarnitine translocase deficiency (9.21)
SLC25A20 (3p21.31)
Carnitine-acylcarnitine translocase(M)



196Central core disease (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



197Centronuclear myopathy 2 (3.24)
BIN1 (2q14)
Amphiphysin



198Centronuclear myopathy 4 (3.25)
CCDC78 (16p13.3)
Coiled-coil domain-containing protein 78



199Centronuclear myopathy 5 (3.26)
SPEG (2q35)
SPEG complex locus



200Centronuclear myopathy 6 with fiber-type disproportion (3.21)
MAP3K20 (2q31.1)
Mitogen-activated protein kinase kinase 20



201Centronuclear myopathy related to TTN (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



202centronuclear myopathy, recessive (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



203Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.99)
RNF216 (7p22.1)
Ring finger protein 216



204Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.40, 16.64, 13.102)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



205Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26)
? - (3p26)

206Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.122)
RFC1 (4p14)
Replication Factor C Subunit 1



207Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.51, 7.10, 13.46)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



208Cerebellar ataxia, pure (7.9, 13.6, 13.51, 7.10, 13.46)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



209Chanarin-Dorfman syndrome (9.27)
ABHD5 (3p25.3-p24.3)
Abhydrolase domain containing 5



210Charcot-Marie Tooth disease (14.35)
AHNAK2 (14q32)
Ahnak nucleoprotein 2



211Charcot-Marie Tooth disease related to CNTNAP1 (12.87, 14.36)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



212Charcot-Marie Tooth disease, demyelinating type 1G (14.8)
PMP2 (8q21.13)
peripheral myelin protein-2



213Charcot-Marie Tooth disease, intermediate (14.21)
CFAP276 (1p21.2-p13.3)
Cilia- and flagella-associated protein 276



214Charcot-Marie-Tooth 2 (14.63)
MARS (12q13.3)
Methionyl-tRNA synthetase



215Charcot-Marie-Tooth disease with deafness and mental retardation (14.40, 16.64, 13.102)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



216Charcot-Marie-Tooth disease, axonal (14.93)
SGPL1 (10q22.1)
Sphingosine-1-Phosphate Lyase 1



217Charcot-Marie-Tooth disease, axonal (12.103, 14.97)
MCM3AP (21q22.3)
Minichromosome maintenance 3-associated protein



218Charcot-Marie-Tooth disease, axonal (15.35, 14.98)
B4GALNT1 (12q13.3)
Beta-1,4-N-acetyl-galactosaminyl transferase 1



219Charcot-Marie-Tooth disease, axonal (14.99)
MYO9B (19p13.11)
Myosin IXB



220Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



221Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.76)
JAG1 (20p12.2)
Jagged 1



222Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.131, 5.23, 14.77)
NOTCH2NLC (1q21.2)
Notch2 N-terminal-like protein



223Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.94)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



224Charcot-Marie-Tooth disease, axonal, type 20 (14.60, 12.34)
DYNC1H1 (14q32.31)
Dynein, cytoplasmic 1, heavy chain 1



225Charcot-Marie-Tooth disease, axonal, type 2A2B (14.48, 14.78, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



226Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



227Charcot-Marie-Tooth disease, axonal, type 2CC (12.72, 14.68)
NEFH (22q12.2)
Neurofilament, heavy polypeptide



228Charcot-Marie-Tooth disease, axonal, type 2D (14.51, 12.23)
GARS1 (7p15)
Glycyl-tRNA synthetase



229Charcot-Marie-Tooth disease, axonal, type 2DD (14.69)
ATP1A1 (1p13.1)
ATPase, Na+/K+ transporting, alpha-1 polypeptide



230Charcot-Marie-Tooth disease, axonal, type 2EE (14.81)
MPV17 (2p23.3)
MpV17 mitochondrial inner membrane protein(M)



231Charcot-Marie-Tooth disease, axonal, type 2FF (14.70)
CADM3 (1q23.2)
Cell adhesion molecule 3



232Charcot-Marie-Tooth disease, axonal, type 2N (12.30, 14.59)
AARS (16q22.1)
Alanyl-tRNA synthetase



233Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.96, 14.95)
SACS (13q12)
Sacsin



234Charcot-Marie-Tooth disease, congenital, vertical talus (14.10)
HOXD10 (2q31.1)
Homeobox D10



235Charcot-Marie-Tooth disease, dominant intermediate A (14.14, 12.41)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



236Charcot-Marie-Tooth disease, dominant intermediate B (3.23, 2.15, 4.21, 14.15, 12.85)
DNM2 (19p13.2)
Dynamin 2



237Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



238Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



239Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.22, 14.57, 14.84)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



240Charcot-Marie-Tooth disease, recessive intermediate, A (14.22, 14.57, 14.84)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



241Charcot-Marie-Tooth disease, type 1A (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



242Charcot-Marie-Tooth disease, type 1B (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



243Charcot-Marie-Tooth disease, type 1D (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



244Charcot-Marie-Tooth disease, type 1E (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



245Charcot-Marie-Tooth disease, type 1F (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



246Charcot-Marie-Tooth disease, type 2A1 (14.47)
KIF1B (1p36.2)
Kinesin family member 1B(M)



247Charcot-Marie-Tooth disease, type 2B2 (14.80, 14.92)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



248Charcot-Marie-Tooth disease, type 2E (14.7, 14.52, 14.20)
NEFL (8p21)
Neurofilament, light polypeptide 68kDa



249Charcot-Marie-Tooth disease, type 2I (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



250Charcot-Marie-Tooth disease, type 2J (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



251Charcot-Marie-Tooth disease, type 2K (14.22, 14.57, 14.84)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



252Charcot-Marie-Tooth disease, type 4A (14.22, 14.57, 14.84)
GDAP1 (8q13-q21)
Ganglioside-induced differentiation-associated protein 1



253Charcot-Marie-Tooth disease, type 4B1 (14.23)
MTMR2 (11q22)
Myotubularin-related protein 2



254charcot-marie-tooth disease, type 4b2 (14.24)
SBF2 (11p15.4)
SET binding factor 2



255Charcot-Marie-Tooth disease, type 4D (14.27)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



256Charcot-Marie-Tooth disease, type 4F (14.30, 14.46)
PRX (19q13)
Periaxin



257charcot-marie-tooth disease, type 4j (14.33, 12.57)
FIG4 (6q21)
Sac domain-containing inositol phosphatase 3



258Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.40, 16.64, 13.102)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



259charcot-marie-tooth disease, x-linked recessive, 2 (14.38)
? - (Xp22.2)

260charcot-marie-tooth disease, x-linked recessive, 3 (14.39)
78 kb Chro8 insertion (Xq26)
78 kb inter-chromosomal insertion (from chro 8q24.3)



261charcot-marie-tooth disease, x-linked recessive, 5 (14.41)
PRPS1 (Xq21.32-q24)
Phosphoribosyl pyrophosphate synthetase 1



262Charcot-Marie-Tooth neuropathy (14.13)
ITPR3 (6q21.31)
Inositol 1,4,5-triphosphate receptor, type 3



263Charcot-Marie-Tooth neuropathy (14.9)
POLR3B (12q23.3)
Polymerase III, RNA, Subunit B



264Charcot-Marie-Tooth neuropathy Type 2B (14.49)
RAB7A (3q21)
RAB7, member RAS oncogene family



265Charcot-Marie-Tooth neuropathy Type 2F (14.53, 12.20)
HSPB1 (7q11.23)
Heat shock 27kDa protein 1



266Charcot-Marie-Tooth neuropathy Type 2H (14.54)
? - (8q21.3)

267Charcot-Marie-Tooth neuropathy Type 2L (14.58, 12.19, 4.28, 4.29)
HSPB8 (12q24.23)
Heat shock 27kDa protein 8



268Charcot-Marie-Tooth neuropathy Type 2P (14.61)
LRSAM1 (9q33.3)
Leucine rich repeat and sterile alpha motif containing 1



269Charcot-Marie-Tooth neuropathy Type 2Q (14.62)
DHTKD1 (10p14)
Dehydrogenase E1 and transketolase domain containing 1(M)



270Charcot-Marie-Tooth neuropathy Type 2R (14.88)
TRIM2 (4q31.3)
Tripartite motif containing 2



271Charcot-Marie-Tooth neuropathy Type 2T (14.90, 13.39)
MME (3q25.2)
Membrane metallo-endopeptidase



272Charcot-Marie-Tooth neuropathy Type 2V (14.64)
NAGLU (17q21.2)
N-acetyl-alpha-glucosaminidase



273Charcot-Marie-Tooth neuropathy Type 2W (14.65)
HARS (5q31.3)
Histidyl-tRNA synthetase



274Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.51, 14.91)
SPG11 (15q21.1)
SPG11 vesicle trafficking associated, Spatacsin



275Charcot-Marie-Tooth neuropathy Type 2Y (5.34, 4.23, 12.60, 1.64, 14.66)
VCP (9p13-p12)
Valosin-containing protein



276Charcot-Marie-Tooth neuropathy Type 2Z (14.67)
MORC2 (2q12.2)
MORC family CW-type zinc finger 2



277Charcot-Marie-Tooth neuropathy Type 4B3 (14.25)
SBF1 (22q13.33)
SET binding factor 1



278Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



279Charcot-Marie-Tooth neuropathy Type 4F (14.26)
SH3TC2 (5q32)
KIAA1985 protein



280Charcot-Marie-Tooth neuropathy Type 4G (14.31)
HK1 (10q22.1)
Hexokinase 1(M)



281Charcot-Marie-Tooth neuropathy Type 4H (14.32)
FGD4 (12p11.21)
Actin-filament binding protein Frabin



282Charcot-Marie-Tooth neuropathy Type 4K (14.34)
SURF1 (9q34.2)
Surfeit 1(M)



283Charcot-Marie-Tooth neuropathy Type F (14.19)
GNB4 (3q28-q29)
Guanine nucleotidebinding protein, beta-4



284Charcot-Marie-Tooth neuropathy with glomerulopathy (14.18)
INF2 (14q32-33)
Inverted formin 2



285Charcot-Marie-Tooth neuropathy X-linked 6 (14.42)
PDK3 (Xp22.11)
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



286charcot-marie-tooth neuropathy, dominant intermediate A (
? - (10q24.1-q25.1)

287Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.16)
YARS (1p35.1)
Tyrosyl-tRNA synthetase



288Charcot-Marie-Tooth neuropathy, with fibulin defect (14.12)
FBLN5 (14q32.12)
Fibulin 5 (extra-cellular matrix)



289Charcot-Marie-Tooth neuropathy, X-linked (14.37, 14.45)
GJB1 (Xq13.1)
Gap junction protein, beta 1, 32kDa (connexin 32)



290Charlevoix disease (14.123)
SLC12A6 (15q13-q15)
Potassium chloride cotransporter KCC3



291CMT recessive intermediate D (14.87)
COX6A1 (12q24.31)
Cytochrome c oxidase subunit VIa polypeptide 1(M)



292CMT2 related to KIF5A (15.6, 14.73, 12.71)
KIF5A (12q13.13)
Kinesin family member 5A



293Coenzyme Q10 deficiency (13.104)
COQ5 (12q24.31)
Coenzyme Q5 Methyltransferase(M)



294Coenzyme Q10 deficiency 1 (16.73)
COQ2 (4q21.23)
Coenzyme Q2(M)



295Coenzyme Q10 deficiency 5 (16.75)
COQ9 (16q21)
Coenzyme Q9(M)



296Coenzyme Q10 deficiency 6 (16.76)
COQ6 (14q24.3)
Coenzyme Q6(M)



297Coenzyme Q10 deficiency 7 (16.77)
COQ4 (9q34.11)
Coenzyme Q4(M)



298Coenzyme Q10 deficiency 8 (16.78)
COQ7 (16p12.3)
Coenzyme Q7(M)



299COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11)
COL12A1 (6q13-q14)
Collagen type XII alpha 1 chain



300Combined oxidative phosphorylation deficiency (16.67)
NSUN3 (3q11.2)
NOP2/SUN RNA Methyltransferase Family Member 3



301Combined oxidative phosphorylation deficiency 43 (16.65)
TIMM22 (17q13.3)
Translocase of inner mitochondrial membrane 22(M)



302Combined oxidative phosphorylation deficiency 44 (16.66)
FASTKD2 (2q33.3)
Fast Kinase Domains 2



303Combined oxidative phosphorylation deficiency 50 (16.68)
MRPS25 (3p25.1)
Mitochondrial ribosomal protein S25(M)



304Combined Oxidative phosphorylation Deficiency 6 (14.40, 16.64, 13.102)
AIFM1 (Xq24-q26.1)
Apoptosis-inducing factor, Mitochondria-associated 1(M)



305Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.94, 14.129, 12.10)
VRK1 (14q32)
Vaccinia related kinase 1



306Congenital amyotrophy (3.58)
CACNA1H (16p13.3)
Calcium channel, voltage-dependent, T type, aplpha-1H subunit



307congenital cataracts, facial dysmorphism, and neuropathy (14.128)
CTDP1 (18q23)
CTD phosphatase subunit 1



308Congenital disorder of glycosylation type 1 (2.36)
MPDU1 (17p13.1)
Mannose-P-dolichol utilization defect 1



309Congenital muscle dystrophy with joint hyperlaxity (2.45)
? - (3p23-21)

310Congenital muscle dystrophy with mitochondrial structural abnormalities (2.46)
CHKB (22q13)
Choline kinase beta



311Congenital muscular dystrophy (2.47)
? - (1q42)

312Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



313Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



314Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.48, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



315Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.35)
DPM1 (20q13.13)
Dolichyl-phosphate mannosyltransferase 1, catalytic subunit



316Congenital muscular dystrophy with hypoglycosylation of dystroglycan (
ALG13 (Xq23)
UDP-N-acetylglucosami-nyltransferase



317Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.44, 1.14)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



318Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.41, 1.67)
POMK (8p11.21)
Protein-O-mannose kinase



319Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.39)
RXYLT1 (12q14.2)
Ribitol xylosyltransferase 1 (transmembrane protein 5)



320Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.46, 2.38)
DAG1 (3p21)
Dystroglycan1



321Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.40)
B3GALNT2 (1q42.3)
Beta-1,3-N-acetylgalacto-saminyltransferase 2



322Congenital muscular dystrophy with integrin defect (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



323Congenital muscular dystrophy with merosin deficiency (2.47)
? - (1q42)

324Congenital muscular dystrophy with rigid spine related to ACTA1 (3.15, 3.3, 3.43, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



325Congenital musuclar dystrophy with telethonin defect (1.37, 10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



326Congenital myasthenic syndrome (11.25)
LRP4 (11p11.2)
LDL receptor related protein 4



327Congenital myasthenic syndrome (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



328Congenital myasthenic syndrome (11.42)
CHD8 (14q11.2)
Chromodomain Helicase DNA-Binding Protein 8



329Congenital Myasthenic syndrome related to GMPPB (1.49, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



330Congenital myasthenic syndrome related to MuSK (11.17, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



331Congenital myasthenic syndrome related to RPH3A (11.40)
RPH3A (12q23.3)
Rabphilin 3A



332Congenital myasthenic syndrome type 19 (11.27)
COL13A1 (10q22.1)
Collagen type XIII alpha 1 chain



333Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



334Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



335Congenital myasthenic syndrome with episodic apnea (12.26, 11.28)
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



336Congenital myasthenic syndrome with intellectual disability and ataxia (11.26)
SNAP25 (20p12.2)
Synaptosome associated protein 25



337Congenital myasthenic syndrome with nephrotic syndrome (11.34)
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



338Congenital myopathy (3.68)
TNNC2 (20q13.12)
Troponin C Fast



339Congenital myopathy Compton-North (3.47)
CNTN1 (12q11-q12)
Contactin-1



340Congenital myopathy related to PTPLA (10.116, 3.49)
HACD1 (10p12.33)
Protein tyrosine phosphatase-like (3-Hydroxyacyl-CoA dehydratase



341Congenital Myopathy related to PYROXD1 (5.9, 1.66, 3.63)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



342Congenital Myopathy related to TNPO3 (1.18, 3.64)
TNPO3 (7q32.1-q32.2)
Transportin 3



343Congenital myopathy with fatal cardiomyopathy (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



344Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.50, 1.30)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



345congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.46, 10.76, 10.109)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



346CPT deficiency, hepatic, type II (9.19)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



347CPVT5 (10.128)
TRDN (6q22.31)
Triadin



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



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



350Creatine phosphokinase, elevated serum (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



351Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



352Danon disease (5.17)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



353Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.47)
EYA4 (6q23-24)
Eyes absent 4



354Dejerine-Sottas neuropathy, autosomal recessive (14.30, 14.46)
PRX (19q13)
Periaxin



355Dejerine-Sottas syndrome (14.2, 14.44, 14.55, 14.56, 14.29, 14.17)
MPZ (1q22)
Myelin protein zero



356Dejerine-Sottas syndrome (14.4, 14.28, 14.45)
EGR2 (10q21.1)
Early growth response 2 protein



357Dejerine-Sottas Syndrome (14.1, 14.43, 14.5, 14.6)
PMP22 (17p12-p11.2)
Peripheral myelin protein 22



358Desmin-related myopathy (5.1, 1.27, 10.46, 1.60, 5.15, 10.131, 11.44)
DES (2q35)
Desmin



359Desmin-related myopathy with Mallory bodies (2.13, 5.13, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



360Dilated cardiomyopathy realted to GATAD1 (10.81)
GATAD1 (7q21-q22)
GATA zinc finger domain containing 1



361Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.72)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



362Dilated cardiomyopathy related to BAG3 (5.7, 10.71, 14.75)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



363Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.79, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



364Dilated Cardiomyopathy related to DOLK (10.91)
DOLK (9q34.13)
Dolichol kinase



365Dilated cardiomyopathy related to integrin-linked kinase (10.78)
ILK (11p15.5-p15.4)
Integrin-linked kinase



366Dilated cardiomyopathy related to laminin-alpha4 (10.73)
LAMA4 (6q21)
Laminin alpha 4



367Dilated cardiomyopathy related to MURC (10.90)
MURC (9q31.1)
Muscle-related coiled-coil protein



368Dilated cardiomyopathy related to MYBPC3 (10.4, 3.46, 10.76, 10.109)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



369Dilated cardiomyopathy related to nesprin-1 (1.5, 13.64, 16.22, 10.89)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



370Dilated cardiomyopathy related to PRDM16 (10.75, 10.107)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



371Dilated cardiomyopathy related to RAF1 (10.77)
RAF1 (3p25.2)
V-Raf-1 Murine Leukemia Viral Oncogene Homolog 1



372dilated cardiomyopathy, 1aa (10.64, 10.25, 3.56, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



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

374Dilated cardiomyopathy, 1I (5.1, 1.27, 10.46, 1.60, 5.15, 10.131, 11.44)
DES (2q35)
Desmin



375Dilated Cardiomyopathy, 1L (1.36, 10.49)
SGCD (5q33-q34)
Delta-sarcoglycan



376Dilated cardiomyopathy, 1N (1.37, 10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



377Dilated cardiomyopathy, 2C (10.82)
PPCS (1p34.2)
Phosphopantothenosylcystein synthetase



378Dilated cardiomyopathy, 2D (10.83)
RPL3L (16p13.3)
Ribosomal protein L3-like



379Dilated cardiomyopathy, 2E (10.18, 10.84)
JPH2 (20q13.12)
Junctophilin-2



380Dilated cardiomyopathy, 2F (10.85)
BAG5 (14q32.33)
Bag cochaperone



381Dilated cardiomyopathy, 2G (10.86)
LMOD2 (7q31.32)
Leiomodin 2



382Dilated cardiomyopathy, related to DSG2 (10.119, 10.65)
DSG2 (18q12.1)
Desmoglein 2



383Distal hereditary motor neuronopathy (14.83, 12.16)
HINT1 (5q23.3)
Histidine triad nucleotide binding protein 1



384Distal hereditary motor neuropathies (14.14, 12.41)
GBF1 (10q24.32)
Golgi-specific brefeldin-A resistance factor 1



385Distal motor neuropathy (12.40)
SPTAN1 (9q34.11)
Spectrin, alpha, nonerythrocytic 1



386Distal motor neuropathy related to SYT2 (11.14, 12.39, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



387Distal Myopathy (4.27)
PLIN4 (19p13.3)
Perilipin 4



388Distal myopathy with nebulin defect (3.2, 4.18, 4.19)
NEB (2q22)
Nebulin



389Distal Spinal Muscular Atrophy with Calf Predominance (12.22)
FBXO38 (5q32)
F-box protein 38



390Distal spinal muscular atrophy, type VB (15.12, 12.24)
REEP1 (2p11.2)
Receptor accessory protein 1(M)



391Dominant distal hereditary motor neuropathy (12.30, 14.59)
AARS (16q22.1)
Alanyl-tRNA synthetase



392Duchenne muscular dystrophy (1.1, 10.88)
DMD (Xp21.2)
Dystrophin



393Dusty core disease related to RYR1 (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



394Dysmyelinating leukodystrophy (15.40)
FA2H (16q21-q23.1)
Fatty acid 2-hydroxylase



395Dyssegmental dysplasia, Silverman-Handmaker type (6.8)
HSPG2 (1p36.1-p34)
Perlecan



396Dystrophia myotonica (6.1)
DMPK (19q13.3)
Myotonic dystrophy protein kinase



397Early onset axonal neuropathy with sensory ataxia (14.74)
DGAT2 (1q13.3)
Diacylglycerol O-acyltransferase 2



398Early onset distal myopathy with KLHL9 mutations (4.22)
KLHL9 (9p21.2-p22.3)
Kelch-like homologue 9



399Early onset myopathy, areflexia, respiratory distress and dysphagia (3.35, 3.34)
MEGF10 (5q23.2)
Multiple EGF-like-domains 10



400Early-onset axonal Charcot-Marie-Tooth with ataxia (14.80, 14.92)
PNKP (19q13.33)
polynucleotide kinase 3’-phosphatase



401Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.66, 3.63)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



402Emery-Dreifuss Autosomal recessive (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



403Emery-dreifuss muscular dystrophy 1 (1.2)
EMD (Xq28)
Emerin



404Emery-dreifuss muscular dystrophy 4 (1.5, 13.64, 16.22, 10.89)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)



405Emery-dreifuss muscular dystrophy 6 (1.7, 5.30, 5.31, 5.32)
FHL1 (Xq26.3)
Four and a half LIM domain 1



406Emery-dreifuss muscular dystrophy 7 (10.115, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



407Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



408Endocardial fibroelastosis-2 (10.87, 10.99)
TAZ (Xq28)
Tafazzin



409Enolase deficiency (9.17)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



410Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.26, 1.47, 11.36, 1.65)
PLEC (8q24.3)
Plectin



411episodic ataxia type 5, included (13.48)
CACNB4 (2q22-q23)
Calcium channel, voltage-dependent, beta 4 subunit



412episodic ataxia type 6 (13.49)
SLC1A3 (5p13)
EAAT1 (excitatory amino acid transporter type 1)



413episodic ataxia type-3 (13.47)
? - (1q42)

414episodic ataxia type-7 (13.50)
? - (19q13)

415Episodic ataxia with myokymia (7.12)
KCNA1 (12p13)
Potassium voltage-gated channel, shaker-related subfamily, member 1



416Episodic ataxia, type 2 (7.9, 13.6, 13.51, 7.10, 13.46)
CACNA1A (19p13.13)
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit



417episodic muscle weakness, x-linked (5.33)
? - (Xp22.3)

418Episodic pain syndrome, familial 3 (14.110, 14.120)
SCN11A (3p22.2)
Sodium voltage-gated channel alpha subunit 11



419Erythrocyte lactate transporter defect (9.18)
SLC16A1 (1p13.2)
Solute carrier family 16, member 1 (monocarboxylic acid transporter 1)



420Erythromelalgia, Primary (14.105, 14.119)
SCN9A (2q24.3)
Sodium voltage-gated channel alpha subunit 9



421Escobar syndrome (multiple pterygium syndrome) (11.35)
CHRNG (2q33-q34)
Cholinergic receptor, nicotinic, gamma polypeptide



422Exertional myoglobinuria due to deficiency of LDH-A (9.16)
LDHA (11p15.4)
Lactate dehydrogenase A



423Facio-scapulo-humeral muscular dystrophy (1.12)
LRIF1 (1p13.3)
Ligand-Dependent Nuclear Receptor-Interacting Factor 1



424Facio-scapulo-humeral muscular dystrophy, type 2 (1.11)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1



425Familial amyloid neuropathy (16.4)
TTR (18q12.1)
Transthyretin (prealbumin, amyloidosis type I)



426Familial amyotrophic lateral sclerosis (4.13, 12.67)
MATR3 (5q31)
Matrin 3



427Familial brachial plexus neuropathy (14.125)
SEPT9 (17q25)
Septin 9



428Familial dysautonomia (Riley-Day syndrome) (16.3, 14.106)
ELP1 (9q31.3)
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein



429Familial hypertrophic cardiomyopathy, 13 (10.12, 10.63)
TNNC1 (3p21.3-p14.3)
Slow troponin C



430Familial hypertrophic cardiomyopathy, 14 (10.1, 10.68, 10.13, 10.185)
MYH6 (14q12)
Myosin heavy chain 6



431Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



432Familial limb girdle myasthenia related to agrin (11.16, 16.31)
AGRN (1p36.33)
Agrin



433Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



434Familial limb-girdle myasthenia related to DOK7 (11.18, 16.27)
DOK7 (4p16.2)
Docking protein 7



435familial sinusal bradycardia (10.184, 10.180)
HCN4 (3p22.2)
Hyperpolarization activated cyclic nucleotide-gated potassium channel 4



436Familial spastic paraplegia, autosomal dominant, 2 (15.2)
SPAST (2p24-p21)
Spastin



437Fatty aldehyde dehydrogenase (15.68)
ALDH3A2 (17p11.2)
Aldehyde dehydrogenase 3A2



438Fetal akinesia deformation related to AGRN (11.16, 16.31)
AGRN (1p36.33)
Agrin



439Fetal akinesia deformation sequance with MUSK defect (11.17, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



440Fetal akinesia deformation sequence 2 (11.19, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



441Fetal akinesia deformation sequence 3 (11.18, 16.27)
DOK7 (4p16.2)
Docking protein 7



442Fetal akinesia deformation sequence 4 (16.29)
NUP88 (17p13.2)
Nucleoporin 88kD



443Fetal akinesia deformation sequence related to RYR1 (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



444Fibrodysplasia ossificans progressiva (5.28)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2



445Fibrosis of extraocular muscles, congenital, 1 (16.5)
KIF21A (12q12)
Kinesin family member 21A



446Fibrosis of extraocular muscles, congenital, 2 (16.6)
PHOX2A (11q13.2)
Paired-like aristaless homeobox protein 2A



447Fibrosis of extraocular muscles, congenital, 3 (16.7)
TUBB3 (16q24.3)
Tubulin, beta 3



448Fibrosis of extraocular muscles, congenital, 5 (16.8)
COL25A1 (4q25)
Collagen, type XXV, alpha-1



449Friedreich ataxia (13.54)
FXN (9q13-q21.1)
Frataxin(M)



450friedreich ataxia 2 (13.55)
? - (9p23-p11)

451Friedreich ataxia with retained reflexes (13.54)
FXN (9q13-q21.1)
Frataxin(M)



452fukuyama congenital muscular dystrophy (2.18, 2.19, 10.61, 1.43)
FKTN (9q31-q33)
Fukutin



453Galloway-Mowat syndrome 1 (13.61)
WDR73 (15q24-q26)
WD Repeat-Containing Protein 73



454Giant axonal neuropathy 2 (14.127)
DCAF8 (1q23.2)
DDB1 and CUL4 associated factor 8



455Giant axonal neuropathy-1 (14.126)
GAN1 (16q23.2)
Gigaxonin



456Glycogen branching enzyme deficiency (9.3)
GBE1 (3p12)
Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV)



457Glycogen storage disease II (9.1, 10.98, 1.61)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



458Glycogen storage disease IIb (5.17)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor



459glycogen storage disease of heart, lethal congenital (10.5, 9.10)
PRKAG2 (7q31)
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit



460glycogen storage disease type 0 (9.9)
GYS1 (19q13.3)
Glycogen synthase 3 glycogen synthase 1 (muscle) glycogen synthase 1 (muscle)



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



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



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



464Glycogen storage disease type IIId (9.2)
AGL (1p21)
Amylo-1,6-glucosidase, 4-alpha-glucanotransferase



465Glycogen storage disease VII (9.5)
PFKM (12q13.3)
Phosphofructokinase, muscle



466Glycogen storage disease X (9.15)
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



467Glycogen storage disease XI (9.16)
LDHA (11p15.4)
Lactate dehydrogenase A



468Glycogen storage disease XIII (9.17)
ENO3 (17pter-p11)
Enolase 3, beta muscle specific



469Glycogen storage disease XIV (9.7)
PGM1 (1p31)
Phosphoglucomutase 1



470Glycogen storage disease XV (9.8, 9.12)
GYG1 (3q24)
Glycogenin 1



471glycogen storage disease, type IXD (9.6)
PHKA1 (Xq13)
Phosphorylase b kinase, alpha submit



472GOLGA2-related congenital muscle dystrophy with brain involvement (2.49)
GOLGA2 (9q34.113)
Golgin A2



473Hereditary bundle branch system defect (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



474Hereditary motor and sensory neuropathy – Lom (with deafness) (14.27)
NDRG1 (8q24.3)
N-myc downstream regulated gene 1



475Hereditary motor and sensory neuropathy 2A (14.48, 14.78, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



476Hereditary motor and sensory neuropathy V (12.31)
? - (4q34.3-q35.2)

477Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.48, 14.78, 14.72)
MFN2 (1p36.22)
Mitofusin 2(M)



478Hereditary motor and sensory, neuropathy, proximal, type (14.71, 15.56)
TFG (3q13)
TRK-fused gene



479Hereditary motor and sensory, type 1C (14.3)
LITAF (16p13.3-p12)
Lipopolysaccharide-induced TNF factor



480Hereditary myopathy with early respiratory failure (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



481Hereditary peripheral neuropathy (14.132)
SLC9A3R1 (17q25.1)
Solute carrier family 9, member 3, regulator 1



482hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.101)
? - (3p24-p22)

483Hereditary sensory and autonomic neuropathy type IV (14.107)
NTRK1 (1biq23.1)
neurotrophic receptor tyrosine kinase 1



484Hereditary sensory and autonomic neuropathy type VI (14.109)
DST (6p12.1)
Dystonin



485Hereditary sensory and autonomic neuropathy type VIII (14.111)
PRDM12 (9q34.12)
PR/SET domain 12 (positive regulatory domain zinc finger protein 12)



486Hereditary sensory neuropathy type IF (14.114)
ATL3 (11q13.1)
atlastin GTPase 3



487Hereditary sensory neuropathy with dementia and hearing loss (14.113)
DNMT1 (19p13.2)
DNA (cytosine-5)-methyltransferase 1



488Hereditary sensory neuropathy, type IIB (14.104)
RETREG1 (5p15.1)
Family with sequence similarity 134 member B



489Hutchinson-Gilford progeria syndrome (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



490Hydrocephalus with Hirschspung disease and cleft palate (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



491Hyperckemia, idiopathic (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



492Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.62, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



493Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.62, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



494Hypertrophic cardiomyopathy related calreticulin 3 (10.20)
CALR3 (19p13.11)
Calreticulin 3



495Hypertrophic cardiomyopathy related to actinin-2 (10.64, 10.25, 3.56, 4.10)
ACTN2 (1q42-q43)
Actinin alpha2



496Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.79, 10.22)
ANKRD1 (10q23.31)
Ankyrin repeat domain 1 (cardiac muscle)



497Hypertrophic cardiomyopathy related to cardiac myopalladin (10.74, 3.11, 10.24, 10.95)
MYPN (10q21.1)
Myopalladin



498Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.84)
JPH2 (20q13.12)
Junctophilin-2



499Hypertrophic cardiomyopathy related to myozenin 2 (10.17)
MYOZ2 (4q26)
Myozenin 2, or calsarcin 1, a Z disk protein



500Hypertrophic cardiomyopathy related to nexilin (10.66, 10.21)
NEXN (1p32-p31 )
Nexilin(F-actin binding protein)



501Hypertrophic cardiomyopathy related to phospholamban (10.53, 10.19)
PLN (6q22.1)
Phospholamban



502Hypertrophic cardiomyopathy related to TCAP (1.37, 10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



503Hypertrophic cardiomyopathy related to ZASP (5.5, 10.41, 4.20, 10.26, 10.102)
LDB3 (10q22)
LIM domain binding 3



504Hypertrophic cardiomyopathy, 21 (10.23)
? - (7p12.1-q21)

505Hypertrophic cardiomyopathy, 28 (10.30)
FHOD3 (18q12.2)
Formin homology-2 domain-containing protein 3



506Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.34)
MRPL3 (3q21-q23)
Mitochondrial ribosomal protein L3(M)



507Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.31)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



508Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.19)
CPT2 (1p32)
Carnitine palmitoyltransferase II(M)



509Hypokalaemic periodic paralysis (7.11, 10.178)
KCNE3 (11q13.4)
Potassium voltage-gated channel, Isk-related family, member 3



510Hypokalaemic periodic paralysis (7.5)
ATP1A2 (1q23.2)
ATPase, NA+/K+ transporting alpha-2 polypeptide



511Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.50, 1.30)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



512Hypokalemic periodic paralysis (7.8, 8.5, 3.50, 1.30)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



513Inclusion body myopathy and brain white matter abnormalities (12.69, 12.105)
ANXA11 (10q23.3)
Annexin A11



514Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.34, 4.23, 12.60, 1.64, 14.66)
VCP (9p13-p12)
Valosin-containing protein



515Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.35, 5.25)
HNRNPA2B1 (7q15.2)
Hetergeneous nuclear ribonucleoprotein A2/B1



516Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.34, 4.23, 12.60, 1.64, 14.66)
VCP (9p13-p12)
Valosin-containing protein



517Inclusion body myopathy, autosomal recessive (4.5)
GNE (9p13.3)
UDP-N-acetylglucosamine-2- epimerase/N-acetylmannosamine kinase



518Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.30)
PNPLA8 (7q31.1)
Patatin-like phospholipase domain containing 8(M)



519Infantile-onset multisystem disease with progressive muscle weakness (16.71)
PTRH2 (17q23.1)
Peptidyl-tRNA Hydrolase 2(M)



520Isolated inclusion body myopathy (3.40, 12.66)
HNRNPA1 (12q13.13)
Heterogeneous nuclear ribonucleoprotein A1



521Jervell and Lange-Nielsen cardio-auditory syndrome (10.136, 10.153)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



522jervell and lange-nielsen syndrome (10.152, 10.132, 10.156, 10.150)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



523Kennedy disease (12.42)
AR (Xq11.2-q12)
Androgen receptor



524Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12)
MYO18B (22q12.1)
Myosin XVIIIB



525Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4)
SMN1 (5q13)
Survival of motor neuron 1, telomeric



526LAP1B related muscular dystrophy (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



527Late onset spinal muscular atrophy related to HEXB (12.98)
HEXB (5q13.3)
Hexosaminidase B



528late-onset spinal motor neuronopathy, Jokela type (12.38, 12.76, 16.62)
CHCHD10 (22q11.2-q13.2)
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



529Left ventricular noncompaction 10 (10.4, 3.46, 10.76, 10.109)
MYBPC3 (11p11.2)
Cardiac myosin binding protein-C



530Left ventricular noncompaction 2 (10.101)
? - (11q15)

531Left ventricular noncompaction 3 (5.5, 10.41, 4.20, 10.26, 10.102)
LDB3 (10q22)
LIM domain binding 3



532Left ventricular noncompaction 4 (3.15, 3.3, 3.43, 2.48)
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



533Left ventricular noncompaction 5 (4.6, 3.36, 10.56, 3.38, 3.19, 10.104, 3.65, 3.37)
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



534Left ventricular noncompaction 6 (10.2, 10.42, 10.94, 10.105)
TNNT2 (1q32)
Troponin T2, cardiac



535Left ventricular noncompaction 7 (10.106)
MIB1 (18q11.2)
Mindbomb homolog 1 (drosophila)



536LEFT VENTRICULAR NONCOMPACTION 8 (10.75, 10.107)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



537Left ventricular noncompaction 8 (10.75, 10.107)
PRDM16 (1p36.32)
PR Domain-Containing Protein 16



538Left ventricular noncompaction 9 (10.3, 10.62, 10.108)
TPM1 (15q22)
Tropomyosin 1 (alpha)



539Left ventricular noncompaction with congenital heart defects (10.100)
DTNA (18q12)
Dystrobrevin, alpha



540Left ventricular noncompaction, familial isolated (10.100)
DTNA (18q12)
Dystrobrevin, alpha



541Lethal congenital contractural syndrome 3 (12.83)
PIP5K1C (19p13.3)
Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma



542Lethal congenital contracture syndrome 1 (12.81)
GLE1 (9q34.11)
GLE1 RNA export mediator homolog (yeast)



543Lethal Congenital Contracture Syndrome 10 (12.90)
NEK9 (14q24.3)
Never in mitosis gene A-related kinase 9



544Lethal Congenital Contracture Syndrome 11 (12.91)
GLDN (15q21.2)
Gliomedin



545Lethal congenital contracture syndrome 2 (12.82)
ERBB3 (12q13)
V-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)



546Lethal Congenital Contracture Syndrome 4 (16.10, 12.84)
MYBPC1 (12q23.2)
Myosin-binding proteinC, slow type



547Lethal Congenital Contracture Syndrome 5 (3.23, 2.15, 4.21, 14.15, 12.85)
DNM2 (19p13.2)
Dynamin 2



548Lethal Congenital Contracture Syndrome 6 (12.86)
ZBTB42 (14q32.33)
Zinc finger and BTB domain-containing protein 42



549Lethal congenital contracture syndrome 7 (12.87, 14.36)
CNTNAP1 (17q21.2)
Contactin-Associated Protein 1



550Lethal Congenital Contracture Syndrome 8 (12.88)
ADCY6 (12q13.12)
Adenylate cyclase 6



551Lethal Congenital Contracture Syndrome 9 (12.89)
ADGRG6 (6q24.2)
Adhesion G protein-coupled recptor G6



552Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



553Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.101)
RNF220 (1p34.1)
Ring finger protein 220



554LGMD related to KBTBD13 (3.6, 1.29)
KBTBD13 (15q22.31)
Kelch repeat and BTB (POZ) domain containing 13



555LGMD related to PYROXD1 (5.9, 1.66, 3.63)
PYROXD1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1



556LGMDD1 (1.17, 4.25, 4.26)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6



557LGMDD4 (1.31, 1.20)
CAPN3 (15q15.1-q21.1)
Calpain 3



558LGMDD5 (2.2, 2.6, 1.52, 1.21)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



559LGMDD5 (2.5, 2.4, 2.7, 2.12, 1.53, 1.22, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



560LGMDD5 (2.8, 2.4, 1.54, 1.23)
COL6A3 (2q37)
Alpha 3 type VI collagen



561LGMDR10 (Formerly LGMD2J) (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



562LGMDR20 (2.24, 1.50)
CRPPA (7p21.2-p21.1)
Isoprenoid synthase domain containing protein



563LGMDR22 (2.2, 2.6, 1.52, 1.21)
COL6A1 (21q22.3)
Alpha 1 type VI collagen



564LGMDR22 (2.5, 2.4, 2.7, 2.12, 1.53, 1.22, 2.3)
COL6A2 (21q22.3)
Alpha 2 type VI collagen



565LGMDR22 (2.8, 2.4, 1.54, 1.23)
COL6A3 (2q37)
Alpha 3 type VI collagen



566LGMDR23 (2.1, 1.55)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



567LGMDR24 (2.25, 1.56)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



568LGMDR26 (1.58)
POPDC3 (6q21)
Popeye domain-containing protein 3



569Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.27, 10.46, 1.60, 5.15, 10.131, 11.44)
DES (2q35)
Desmin



570Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.28, 4.4, 1.40, 10.44, 10.8, 3.45, 3.33, 12.92)
TTN (2q31)
Titin



571Limb girdle muscular dystrophy with ophthalmoplegia (5.26, 1.47, 11.36, 1.65)
PLEC (8q24.3)
Plectin



572Limb-Girdle, Muscular dystrophy, type 1G (1.19)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like



573Limb-girdle, muscular dystrophy, type 1h (1.28)
? - (3p23-p25)

574Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.61, 1.43)
FKTN (9q31-q33)
Fukutin



575Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



576Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



577Limb-girdle, muscular dystrophy, type 2q (5.26, 1.47, 11.36, 1.65)
PLEC (8q24.3)
Plectin



578Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.27, 10.46, 1.60, 5.15, 10.131, 11.44)
DES (2q35)
Desmin



579Limb-Girdle, Muscular dystrophy, type 2S (1.48, 2.43)
TRAPPC11 (4q35.1)
Trafficking protein particle complex 11



580Limb-Girdle, Muscular dystrophy, type 2T (1.49, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



581Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.98, 1.61)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein



582Limb-Girdle, Muscular dystrophy, type 2W (1.62)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2



583Limb-Girdle, Muscular dystrophy, type 2X (1.57)
BVES (6q21)
Blood vessel epicardial substance



584Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



585Limb-Girdle, Muscular dystrophy, type 2Z (1.51)
POGLUT1 (3q13.33)
Protein O-Glucosyltransferase 1



586Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.31)
FLAD1 (1q21.3)
flavin adenine dinucleotide synthetase, homolog(M)



587lipodystrophy, congenital generalized, type 4 (1.13)
CAVIN1 (17q21-q2)
Caveolae-associated protein 1(M)



588Lipodystrophy, familial partial, type 2 (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



589Long QT syndrome 10 (10.141, 10.170)
SCN4B (11q23.3)
Sodium channel, voltage-gated, type IV, beta subunit



590Long QT syndrome 11 (10.142)
AKAP9 (7q21.2)
A kinase (PRKA) anchor protein (yotiao) 9



591Long QT syndrome 12 (10.143)
SNTA1 (20q11.21)
Syntrophin, alpha 1



592Long QT syndrome 13 (10.148, 10.144)
KCNJ5 (11 q24.3)
Potassium inwardly-rectifying channel, subfamily J, member 5



593Long QT syndrome 14 (10.127, 10.145)
CALM1 (14q32.11)
Calmodulin 1



594Long QT syndrome 15 (10.146)
CALM2 (2p21)
Calmodulin 2



595Long QT syndrome 16 (10.147, 10.129)
CALM3 (19q13.32)
Calmodulin 3



596Long QT syndrome 9 (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



597Long QT syndrome-1 (10.152, 10.132, 10.156, 10.150)
KCNQ1 (11p15.5-p15.4)
Potassium voltage-gated channel, KQT-like subfamily, member 1



598Long QT syndrome-2 (10.133, 10.149)
KCNH2 (7q36.1)
Voltage-gated potassium channel, subfamily H, member 2



599Long QT syndrome-3 (10.134, 10.43, 10.173, 10.183, 10.163)
SCN5A (3p22.2)
Voltage-gated sodium channel type V alpha



600Long QT syndrome-4 (10.135)
ANK2 (4q25-26)
Ankyrin 2



601Long QT syndrome-5 (10.136, 10.153)
KCNE1 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 1



602Long QT syndrome-6 (10.137, 10.157)
KCNE2 (21q22.12)
Potassium voltage-gated channel, Isk-related family, member 2



603Long QT syndrome-7 (10.151, 10.162, 10.138)
KCNJ2 (17q24.3)
Potassium channel, inwardly rectifying, dubfamily J, member 2



604Lower motor neuron disease with respiratory failure related to MAPT (12.102)
MAPT (17q21.31 )
Microtubule associated protein Tau



605luma related muscular dystrophy (10.115, 1.8)
TMEM43 (3p25.1)
Transmembrane protein 43



606Lysosomal storage myopathy (3.67)
MCOLN1 (19p13.2)
Mucopilin 1



607Machado-Joseph disease (13.3)
ATXN3 (14q32.12)
Ataxin 3



608Malignant hyperthermia susceptibility 1 (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



609Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)

610Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)

611Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)

612Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.50, 1.30)
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



613Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)

614Mandibuloacral dysplasia with type a lipodystrophy (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



615Marinesco-Sjogren syndrome (13.91)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



616Marssili syndrome (insensitivity to pain, congenital, AD) (14.118)
ZFHX2 (14q11.2)
Zinc finger homeobox 2



617MASA syndrome (15.72)
L1CAM (Xq28)
L1 cell adhesion molecule



618McArdle disease (9.4)
PYGM (11q12-q13.2)
Glycogen phosphorylase



619Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



620minicore myopathy with external ophthalmoplegia (8.1, 3.30, 3.31, 3.44, 3.27, 3.18, 5.37, 3.29, 2.53, 16.30, 3.66)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



621Mitochondrial complex 1 deficiency, nuclear type 11 (10.31)
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



622Mitochondrial complex 1 deficiency, nuclear type 20 (9.26)
ACAD9 (3q21.3)
Acyl-CoA dehydrogenase family member 9(M)



623Mitochondrial complex I deficiency, nuclear type 29 (16.81)
TMEM126B (11q14.1)
Transmembrane protein 126B(M)



624Mitochondrial complex IV deficiency (16.87)
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16



625Mitochondrial complex IV deficiency, nuclear type 11 (12.106)
COX20 (1q44)
Cytochrome c Oxidase Assembly Factor COX20



626Mitochondrial complex IV deficiency, nuclear type 18 (16.69)
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2(M)



627Mitochondrial complex IV deficiency, nuclear type 2 (10.37, 14.94)
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein(M)



628Mitochondrial complex IV deficiency, nuclear type 6 (10.38)
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



629Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.44)
TYMP (22q13.33)
Thymidine phosphorylase



630Mitochondrial DNA depletion syndrome 11 (16.53)
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1(M)



631Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



632Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.34, 16.55, 16.54)
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator(M)



633Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.56)
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



634Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.59, 16.57)
OPA1 (3q28-q29)
optic atrophy 1(M)



635Mitochondrial DNA depletion syndrome 20 (MNGIE type) (16.86)
LIG3 (17q12)
Ligase III DNA ATP-Dependent



636Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.42, 16.46)
DGUOK (2p13.1)
Deoxyguanosine kinase(M)



637Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.33, 13.92, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



638Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.33, 13.92, 16.39, 16.48, 16.47)
POLG (15q25)
Polymerase (DNA directed), gamma(M)



639Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.49)
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit(M)



640Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.51, 16.37, 16.50)
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible)(M)



641Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.52)
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit(M)



642Mitochondrial dna depletion syndrome, myopathic form (16.45, 13.28, 16.41)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial(M)



643Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.33)
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial(M)



644Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.36)
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44(M)



645Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.35)
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1(M)



646Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.32)
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial(M)



647Mitochondrial myopathy (16.58)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42(M)



648Mitochondrial myopathy and multiple mtDNA deletions (16.89)
ENDOG (9q34.11)
Endonuclease G, mitochondrial



649Mitochondrial myopathy and sideroblastic anemia 1 (16.60)
PUS1 (12q24.33)
Pseudouridylate synthase 1(M)



650Mitochondrial myopathy related to SLC25A26 (16.88)
SLC25A26 (3p14.1)
Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26



651Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.82)
APOO (Xp22.11)
Apolipoprotein O(M)



652Mitochondrial myopathy with severe neurological manifestations (16.70)
TMEM65 (8q24.13)
Transmembrane Protein 65



653Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.79)
FDX2 (19p13.2)
Ferredoxin(M)



654Miyoshi muscular dystrophy 2 (4.2)
? - (8q22.3)

655Miyoshi muscular dystrophy 3 (1.42, 4.3, 1.15)
ANO5 (11p14-12)
Anoctamin 5



656Miyoshi myopathy (4.1, 1.32)
DYSF (2p12-14)
Dysferlin



657Multiminicore disease, classical form (2.13, 5.13, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



658Multiple acyl-coa dehydrogenase deficiency (9.24)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



659Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.22)
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide(M)



660Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.23)
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide(M)



661Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.24)
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase(M)



662Muscle dystrophy with congenital disorder of glycosylation (2.37)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



663Muscle dystrophy with congenital disorder of glycosylation, type Io (1.63)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



664Muscle hypertrophy (5.27)
MSTN (2q32.2)
Myostatin



665Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.38, 5.43)
STIM1 (11p15.4)
Stromal interaction molecule 1



666Muscle-eye-brain disease (1.49, 2.42, 2.30, 11.37)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



667Muscle-eye-brain disease (2.33, 1.39, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



668Muscle-eye-brain disease (2.21, 2.29, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



669Muscular dystrophy (2.44, 1.14)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



670Muscular dystrophy related to GOSR2 (2.44, 1.14)
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



671Muscular dystrophy with gnathodiaphyseal dysplasia (1.42, 4.3, 1.15)
ANO5 (11p14-12)
Anoctamin 5



672Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.16)
GGPS1 (1q42.3)
Geranylgeranyl Diphosphate Synthase 1



673Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.56)
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



674Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.44)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



675Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



676Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.41, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



677Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



678Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33, 1.39, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



679Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (
ISPD (7p21.2)
Isoprenoid synthase domain containing



680Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.61, 1.43)
FKTN (9q31-q33)
Fukutin



681Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



682Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34)
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



683Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.33, 1.39, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



684Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.61, 1.43)
FKTN (9q31-q33)
Fukutin



685Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.46, 2.38)
DAG1 (3p21)
Dystroglycan1



686Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.41, 1.67)
POMK (8p11.21)
Protein-O-mannose kinase



687Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.20, 1.41, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



688Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.16)
? - (19p13)

689Muscular dystrophy, congenital Davignon-Chauveau type (2.50, 12.11)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



690Muscular dystrophy, congenital merosin-deficient (2.1, 1.55)
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



691Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
ITGA7 (12q13)
Integrin alpha 7 precursor



692Muscular dystrophy, congenital, with cataracts and intellectual disability (2.51)
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



693Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
DUX4 (4q35)
Double homeobox 4



694Muscular dystrophy, LGMDR27 (1.59)
JAG2 (14q32.33)
Jagged 2



695Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.42, 4.3, 1.15)
ANO5 (11p14-12)
Anoctamin 5



696Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.27, 2.23, 1.45)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



697Muscular dystrophy, Limb-Girdle, type 1A (1.24, 5.3, 5.4, 4.17, )
MYOT (5q31)
Myotilin



698Muscular dystrophy, limb-girdle, type 1B (1.3, 1.25, 1.4, 10.39, 2.17, 14.79)
LMNA (1q22)
Lamin A/C



699Muscular dystrophy, Limb-Girdle, Type 1F (1.18, 3.64)
TNPO3 (7q32.1-q32.2)
Transportin 3



700Muscular dystrophy, limb-girdle, type 1G (
? - (4q21)

701Muscular dystrophy, limb-girdle, type 2A (1.31, 1.20)
CAPN3 (15q15.1-q21.1)
Calpain 3



702Muscular dystrophy, limb-girdle, type 2B (4.1, 1.32)
DYSF (2p12-14)
Dysferlin



703Muscular dystrophy, limb-girdle, type 2C (1.35)
SGCG (13q12)
Gamma sarcoglycan



704Muscular dystrophy, limb-girdle, type 2D (1.33)
SGCA (17q21)
Alpha sarcoglycan



705Muscular dystrophy, limb-girdle, type 2E (1.34)
SGCB (4q12)
Beta sarcoglycan



706Muscular dystrophy, limb-girdle, type 2F (1.36, 10.49)
SGCD (5q33-q34)
Delta-sarcoglycan



707Muscular dystrophy, limb-girdle, type 2G (1.37, 10.51, 2.16, 10.27)
TCAP (17q12)
Telethonin



708Muscular dystrophy, limb-girdle, type 2H (1.38, 3.48)
TRIM32 (9q33.2)
Tripartite motif-containing 32



709Muscular dystrophy, limb-girdle, type 2I (2.33, 1.39, 2.22, 2.28)
FKRP (19q13.32)
Fukutin-related protein



710Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.41, 2.32)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



711Muscular dystrophy, limb-girdle, type IC (1.26, 6.6, 5.29, 6.7, 4.12, 10.140, 10.16)
CAV3 (3p25.3)
Caveolin 3



712Muscular dystrophy, rigid spine, 1 (2.13, 5.13, 3.16, 3.32)
SELENON (1p36.13)
Selenoprotein N1



713Myasthenia gravis, autosomal recessive (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



714Myasthenia gravis, familial infantile (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



715Myasthenia gravis, familial infantile, 2 (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



716Myasthenia, congenital, 12, with tubular aggregates (11.20)
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



717Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.62, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



718Myasthenic syndrome, congenital (11.19, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



719Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



720Myasthenic syndrome, congenital, 10 (11.18, 16.27)
DOK7 (4p16.2)
Docking protein 7



721Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 16.28)
RAPSN (11p11.2-p11.1)
Rapsyn



722Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21)
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



723Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22)
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



724Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23)
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



725Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.62, 16.32)
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



726Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



727Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



728Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29)
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



729Myasthenic syndrome, congenital, 22 (11.30)
PREPL (2p21)
Prolyl endopeptidase-like



730Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



731Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



732Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



733Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



734Myasthenic syndrome, congenital, 5 (11.12)
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



735Myasthenic syndrome, congenital, 6, presynaptic (11.13)
CHAT (10q11.2)
Choline acetyltransferase isoform



736Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.39, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



737Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.39, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



738Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 16.26)
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



739Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



740Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43)
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



741Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11)
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



742Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



743Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.39, 11.15)
SYT2 (1q32.1)
Synaptotagmin II



744Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6)
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



745Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10)
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta