Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Machado-Joseph disease (13.3)
109150
ATXN3 (14q24.3-q32.2)
Ataxin 3



Malignant hyperthermia susceptibility 1 (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
145600
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Malignant hyperthermia susceptibility 2 (8.2)
154275
? - (17q11.2-q24)
Malignant hyperthermia susceptibility 3 (8.3)
154276
? - (7q21-q22)
Malignant hyperthermia susceptibility 4 (8.4)
600467
? - (3q13.1)
Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.45)
601887
CACNA1S (1q32)
Calcium channel, voltage-dependent, L type, alpha 1S subunit



Malignant hyperthermia susceptibility 6 (8.6)
601888
? - (5p)
Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
248370
LMNA (1q22)
Lamin A/C



Marinesco-Sjogren syndrome (13.61)
248800
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



MASA syndrome (15.63)
303350
L1CAM (Xq28)
L1 cell adhesion molecule



McArdle disease (9.4)
232600
PYGM (11q12-q13.2)
Glycogen phosphorylase



minicore myopathy with external ophthalmoplegia (8.1, 3.24, 3.25, 3.39, 3.20, 3.14, 5.27, 3.23)
255320
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Mitochondrial dna depletion syndrome, myopathic form (16.21, 13.29)
609560
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial (M)



Mitochondrial dna depletion syndrome, myopathic form (16.22)
609560
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit (M)



Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.25)
614096
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial (M)



Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.29)
615395
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44 (M)



Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.28)
614702
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1 (M)



Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.24)
610505
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial (M)



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



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



Mitochondrial myopathy and sideroblastic anemia 1 (16.28)
600462
PUS1 (12q24.33)
Pseudouridylate synthase 1 (M)



Miyoshi myopathy (4.1, 1.22)
254130
DYSF (2p12-14)
Dysferlin



Motor neuropathy, distal, with vocal cord paralysis (12.17, 11.30)
158580
SLC5A7 (2q12.31)
Solute carrier family 5 (sodium/choline cotransporter), member 7



Multiminicore disease, classical form (2.13, 5.3, 3.12, 3.26)
255320
SEPN1 (1p36.13)
Selenoprotein N1



Multiple acyl-coa dehydrogenase deficiency (9.21, 9.26)
231680
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.19)
231680
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.20)
231680
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.21, 9.26)
231680
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase (M)



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



Muscle dystrophy with congenital disorder of glycosylation, type Io (1.46)
612937
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



Muscle hypertrophy (5.18)
614160
MSTN (2q32.2)
Myostatin



Muscle-eye-brain disease (1.40, 2.38, 2.31, 11.32)
615350
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



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



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



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



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26)
614830
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.22, 2.30, 1.34)
613150
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.28, 2.24, 1.35)
253280
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 1.31)
236670
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.33)
613154
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32, 1.29, 2.23, 2.29)
613153
FKRP (19q13.32)
Fukutin-related protein



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.25, 1.41)
614643
ISPD (7p21.2)
Isoprenoid synthase domain containing



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.20, 10.56, 1.33)
253800
FKTN (9q31-q33)
Fukutin



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.28, 2.24, 1.35)
613151
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.33)
608840
LARGE (22q12.3-q13.1)
Like-glycosyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.32, 1.29, 2.23, 2.29)
606612
FKRP (19q13.32)
Fukutin-related protein



Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.19, 2.20, 10.56, 1.33)
613152
FKTN (9q31-q33)
Fukutin



Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.36)
613818
DAG1 (3p21)
Dystroglycan1



Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
601846
? - (19p13)
Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.34)
TRIP4 (15q22.31)
thyroid hormone receptor interactor 4



Muscular dystrophy, congenital merosin-deficient (2.1)
607855
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



Muscular dystrophy, congenital, due to ITGA7 deficiency (2.15)
613204
ITGA7 (12q13)
Integrin alpha 7 precursor



Muscular dystrophy, facioscapulohumeral, type 1A (1.10)
158900
DUX4 (4q35)
Double homeobox 4



Muscular dystrophy, Limb-Girdle, type 1A (1.13, 5.6, 5.7, 4.9)
159000
MYOT (5q31)
Myotilin



Muscular dystrophy, limb-girdle, type 1B (1.4, 1.14, 1.5, 10.30, 14.68, 2.18)
159001
LMNA (1q22)
Lamin A/C



Muscular dystrophy, Limb-Girdle, Type 1F (1.18)
608423
TNPO3 (7q32.1-q32.2)
Transportin 3



Muscular dystrophy, limb-girdle, type 1G (609115
? - (4q21)
Muscular dystrophy, limb-girdle, type 2A (1.21)
253600
CAPN3 (15q15.1-q21.1)
Calpain 3



Muscular dystrophy, limb-girdle, type 2B (4.1, 1.22)
253601
DYSF (2p12-14)
Dysferlin



Muscular dystrophy, limb-girdle, type 2C (1.23)
253700
SGCG (13q12)
Gamma sarcoglycan



Muscular dystrophy, limb-girdle, type 2D (1.24)
608099
SGCA (17q21)
Alpha sarcoglycan



Muscular dystrophy, limb-girdle, type 2E (1.25)
604286
SGCB (4q12)
Beta sarcoglycan



Muscular dystrophy, limb-girdle, type 2F (1.26, 10.41)
601287
SGCD (5q33-q34)
Delta-sarcoglycan



Muscular dystrophy, limb-girdle, type 2G (1.27, 10.43, 2.17)
601954
TCAP (17q12)
Telethonin



Muscular dystrophy, limb-girdle, type 2H (1.28, 3.43)
254110
TRIM32 (9q33.2)
Tripartite motif-containing 32



Muscular dystrophy, limb-girdle, type 2I (2.32, 1.29, 2.23, 2.29)
607155
FKRP (19q13.32)
Fukutin-related protein



Muscular dystrophy, Limb-Girdle, type 2K (2.21, 1.31)
609308
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Muscular dystrophy, limb-girdle, type 2L (1.32, 4.13)
611307
ANO5 (11p14-12)
Anoctamin 5



Muscular dystrophy, limb-girdle, type IC (1.15, 6.6, 5.20, 6.7, 4.11, 10.110, 10.16)
607801
CAV3 (3p25)
Caveolin 3



Muscular dystrophy, rigid spine, 1 (2.13, 5.3, 3.12, 3.26)
602771
SEPN1 (1p36.13)
Selenoprotein N1



Myasthenia gravis, autosomal recessive (11.12)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia gravis, familial infantile (11.12)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia gravis, familial infantile, 2 (11.12)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia, familial infantil, 1 ()
605809
Myasthenic syndrome, acetazolamide-responsive (7.3, 7.5, 7.4, 7.6, 11.20)
614198
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Myasthenic syndrome, congenital (11.11)
608931
RAPSN (11p11.2-p11.1)
Rapsyn



Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.19)
608931
LAMB2 (3p21)
Laminin, beta 2 (laminin S)



Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
608931
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



Myasthenic syndrome, fast-channel congenital (11.1, 11.5)
608930
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
608930
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
608930
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.25)
616040
SYT2 (1q32.1)
Synaptotagmin II



Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
601462
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
601462
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



Myasthenic syndrome, slow-channel congenital (11.1, 11.5)
601462
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
601462
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



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



Myoclonus-dystonia syndrome (16.2)
159900
SGCE (7q21-q22)
Sarcoglycan, epsilon



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



myofibrillar myopathy ZASP-related (5.4, 10.33, 4.12)
609452
LDB3 (10q22)
LIM domain binding 3



Myofibrillar myopathy, alpha-B crystallin related (5.1, 10.54)
608810
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Myofibrillar myopathy, myotilin related (1.13, 5.6, 5.7, 4.9)
609200
MYOT (5q31)
Myotilin



Myopathy due to CPT II deficiency (9.16)
255110
CPT2 (1p32)
Carnitine palmitoyltransferase II (M)



Myopathy due to phosphoglycerate mutase deficiency (9.13)
261670
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



Myopathy microfibrillar type 7 (5.11)
617114
KY (3q22.2)
Kyphoscoliosis peptidase



Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.33, 3.32, 3.34)
605637
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



myopathy with deficiency of succinate dehydrogenase and aconitase (5.26)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



myopathy with exercise intolerance, swedish type (5.26)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.33, 3.32, 3.34)
605637
MYH2 (17p13.1)
Myosin, heavy polypeptide 2, skeletal muscle



myopathy with lactic acidosis, hereditary (5.26)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



myopathy, congenital, with fiber-type disproportion (3.11, 3.3, 3.38, 2.44)
255310
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



myopathy, congenital, with fiber-type disproportion (2.13, 5.3, 3.12, 3.26)
255310
SEPN1 (1p36.13)
Selenoprotein N1



myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
255310
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



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



Myopathy, distal 1 (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
160500
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Myopathy, distal, 4 (5.8, 4.16)
614065
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.31)
613561
YARS2 (12p11.21)
tyrosyl-tRNA synthetase 2, mitochondrial (M)



Myopathy, myofibrillar, 2 (5.1, 10.54)
608810
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Myopathy, myofibrillar, filamin C-related (5.8, 4.16)
609524
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.21, 5.22, 2.14, 5.23)
300718
FHL1 (Xq26.3)
Four and a half LIM domain 1



Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.21, 5.22, 2.14, 5.23)
300717
FHL1 (Xq26.3)
Four and a half LIM domain 1



Myopathy, X-linked, with excessive autophagy (5.13)
310440
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12)
255600
COL6A2 (21q22.3)
Alpha 2 type VI collagen



Myosin storage myopathy (4.4, 10.1, 3.30, 10.48, 3.31, 3.15)
608358
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Myosin, heavy chain, perinatal (16.15)
160741
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal



Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
160800
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2)
255700
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.20)
608390
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Myotonia recessive (7.1, 6.3, 6.4, 7.2)
255700
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)



Myotonic dystrophy 1 (6.1)
160900
DMPK (19q13.3)
Myotonic dystrophy protein kinase



Myotonic dystrophy, type 2 (6.2)
602668
CNBP (3q21.3)
Cellular nucleic acid-binding protein



Myotubular myopathy, X-linked (3.16)
310400
MTM1 (Xq28)
Myotubularin



Myxomatous valvular dystrophy, X-ninked (10.77)
314400
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)