Disease table



Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Machado-Joseph disease (13.3)
109150
ATXN3 (14q32.12)
Ataxin 3



Malignant hyperthermia susceptibility 1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)
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, 3.54, 1.24, 3.46)
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 (1.3, 1.4, 10.40, 2.17, 14.88)
248370
LMNA (1q22)
Lamin A/C



Marinesco-Sjogren syndrome (13.97)
248800
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone



Marssili syndrome (insensitivity to pain, congenital, AD) (14.124)
147430
ZFHX2 (14q11.2)
Zinc finger homeobox 2



MASA syndrome (15.84)
303350
L1CAM (Xq28)
L1 cell adhesion molecule



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



Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.59)
618416
SLC25A42 (19p13.11)
Solute carrier family 25 member 42 (M)



minicore myopathy with external ophthalmoplegia (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)
255320
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Mitochondrial complex 1 deficiency, nuclear type 11 (10.32)
618234
NDUFAF1 (15q15.1)
NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M)



Mitochondrial complex 1 deficiency, nuclear type 20 (9.25)
611126
ACAD9 (3q21.3)
Acyl-CoA dehydrogenase family member 9 (M)



Mitochondrial complex I deficiency, nuclear type 29 (16.82)
618250
TMEM126B (11q14.1)
Transmembrane protein 126B (M)



Mitochondrial complex IV deficiency (16.87)
619355
COX16 (14q24.2)
Cytochrome c Oxidase Assembly Factor 16



Mitochondrial complex IV deficiency, nuclear type 11 (12.111)
619054
COX20 (1q44)
Cytochrome c Oxidase Assembly Factor COX20



Mitochondrial complex IV deficiency, nuclear type 18 (16.70)
220110
COX6A2 (16p11.2)
Cytochrome c-oxidase, subunit 6A2 (M)



Mitochondrial complex IV deficiency, nuclear type 2 (10.38, 14.99)
604377
SCO2 (22q13.33)
Cytochrome c oxidase assembly protein (M)



Mitochondrial complex IV deficiency, nuclear type 6 (10.39)
615119
COX15 (10q24)
COX15 homolog, cytochrome c oxidase assembly protein (yeast) (M)



Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.45)
603041
TYMP (22q13.33)
Thymidine phosphorylase



Mitochondrial DNA depletion syndrome 11 (16.54)
615084
MGME1 (20p11.23)
Mitochondrial genome maintenance exonuclease 1 (M)



Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.35, 16.56, 16.55)
617184
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator (M)



Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.35, 16.56, 16.55)
615418
SLC25A4 (4q35)
Mitochondrial carrier; adenine nucleotide translocator (M)



Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.57)
615471
FBXL4 (6q16.1-q16.2)
F-box and leucine-rich repeat protein 4



Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.60, 16.58)
616896
OPA1 (3q28-q29)
optic atrophy 1 (M)



Mitochondrial DNA depletion syndrome 20 (MNGIE type) (16.86)
619780
LIG3 (17q12)
Ligase III DNA ATP-Dependent



Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.43, 16.47)
251880
DGUOK (2p13.1)
Deoxyguanosine kinase (M)



Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.34, 13.98, 16.40, 16.49, 16.48)
203700
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.34, 13.98, 16.40, 16.49, 16.48)
613662
POLG (15q25)
Polymerase (DNA directed), gamma (M)



Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.50)
612073
SUCLA2 (13q12.2-q13.3)
Succinate-CoA ligase, ADP-forming, beta subunit (M)



Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.52, 16.38, 16.51)
612075
RRM2B (8q23.1)
Ribonucleotide reductase M2 B (TP53 inducible) (M)



Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.53)
245400
SUCLG1 (2p11.2)
Succinate-CoA ligase, alpha subunit (M)



Mitochondrial dna depletion syndrome, myopathic form (16.46, 13.29, 16.42)
609560
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial (M)



Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.34)
614096
AARS2 (6p21.1)
Alanyl-tRNA synthetase 2, mitochondrial (M)



Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.37)
615395
MRPL44 (2q36.1)
Mitochondrial ribosomal protein L44 (M)



Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.36)
614702
MTO1 (6q13)
Mitochondrial tRNA translation optimization 1 (M)



Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.33)
610505
TSFM (12q14.1)
Ts translation elongation factor, mitochondrial (M)



Mitochondrial myopathy (16.59)
SLC25A42 (19p13.11)
Solute carrier family 25 member 42 (M)



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



Mitochondrial myopathy and sideroblastic anemia 1 (16.61)
600462
PUS1 (12q24.33)
Pseudouridylate synthase 1 (M)



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



Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.83)
APOO (Xp22.11)
Apolipoprotein O (M)



Mitochondrial myopathy with severe neurological manifestations (16.71)
TMEM65 (8q24.13)
Transmembrane Protein 65



Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.80)
251900
FDX2 (19p13.2)
Ferredoxin (M)



Miyoshi muscular dystrophy 2 (4.2)
613318
? - (8q22.3)
Miyoshi muscular dystrophy 3 (1.34, 4.3, 1.14)
613319
ANO5 (11p14-12)
Anoctamin 5



Miyoshi myopathy (4.1, 1.26)
254130
DYSF (2p12-14)
Dysferlin



Multiminicore disease, classical form (2.13, 5.13, )
255320
SELENON (1p36.13)
Selenoprotein N1



Multiple acyl-coa dehydrogenase deficiency (9.23)
231680
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21)
231680
ETFA (15q23-q25)
Electron-transfer-flavoprotein, alpha polypeptide (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22)
231680
ETFB (19q13.3-q13.4)
Electron-transfer-flavoprotein, beta polypeptide (M)



Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23)
231680
ETFDH (4q32-q35)
Electron-transferring-flavoprotein dehydrogenase (M)



Muscle dystrophy with congenital disorder of glycosylation (2.43)
DPM2 (9q34.13)
Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit



Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56, 2.39)
612937
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



Muscle hypertrophy (5.28)
614160
MSTN (2q32.2)
Myostatin



Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.40, 5.48)
STIM1 (11p15.4)
Stromal interaction molecule 1



Muscle-eye-brain disease (1.55, 2.38, 2.31, 11.37)
615350
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B



Muscle-eye-brain disease (1.50, 2.22, 2.36)
FKRP (19q13.32)
Fukutin-related protein



Muscle-eye-brain disease (2.19, 2.33, 1.47)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Muscular dystrophy related to GOSR2 (2.52, )
604027
GOSR2 (17q21.32)
Golgi SNAP receptor complex member 2



Muscular dystrophy with gnathodiaphyseal dysplasia (1.34, 4.3, 1.14)
ANO5 (11p14-12)
Anoctamin 5



Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15)
619518
GGPS1 (1q42.3)
Geranylgeranyl Diphosphate Synthase 1



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.52)
614830
POMGNT2 (3p22.1)
protein O-linked mannose N-acetylglucosaminyltransferase 2



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.33, 1.47)
613150
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34, 2.20, 1.48)
253280
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 1.46, 2.32)
236670
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.23, 2.37)
613154
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.50, 2.22, 2.36)
613153
FKRP (19q13.32)
Fukutin-related protein



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



Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 10.62, )
253800
FKTN (9q31-q33)
Fukutin



Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.56, 2.39)
618992
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34, 2.20, 1.48)
613151
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.23, 2.37)
608840
LARGE1 (22q12.3)
LARGE xylosyl- and glucuronyltransferase 1



Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.50, 2.22, 2.36)
606612
FKRP (19q13.32)
Fukutin-related protein



Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.35, 2.21, 10.62, )
613152
FKTN (9q31-q33)
Fukutin



Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.53, 2.26)
613818
DAG1 (3p21)
Dystroglycan1



Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.29, 1.54)
616094
POMK (8p11.21)
Protein-O-mannose kinase



Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.18, 1.46, 2.32)
607423
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Muscular dystrophy, autosomal dominant, with rimmed vacuoles ()
601846
? - (19p13)
Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.5)
TRIP4 (15q22.31)
Thyroid hormone receptor interactor 4



Muscular dystrophy, congenital merosin-deficient (2.1, 1.41)
607855
LAMA2 (6q22-q23)
Laminin alpha 2 chain of merosin



Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14)
613204
ITGA7 (12q13)
Integrin alpha 7 precursor



Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48)
617404
INPP5K (17p13.3)
Inositol Polyphosphate-5-Phosphatase K



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



Muscular dystrophy, LGMDR27 (1.44)
619566
JAG2 (14q32.33)
Jagged 2



Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.34, 4.3, 1.14)
611307
ANO5 (11p14-12)
Anoctamin 5



Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.34, 2.20, 1.48)
613157
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase



Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16, )
159000
MYOT (5q31)
Myotilin



Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.40, 2.17, 14.88)
159001
LMNA (1q22)
Lamin A/C



Muscular dystrophy, Limb-Girdle, Type 1F (1.17, )
608423
TNPO3 (7q32.1-q32.2)
Transportin 3



Muscular dystrophy, limb-girdle, type 1G (609115
? - (4q21)
Muscular dystrophy, limb-girdle, type 2A (1.25, 1.19)
253600
CAPN3 (15q15.1-q21.1)
Calpain 3



Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26)
253601
DYSF (2p12-14)
Dysferlin



Muscular dystrophy, limb-girdle, type 2C (1.29)
253700
SGCG (13q12)
Gamma sarcoglycan



Muscular dystrophy, limb-girdle, type 2D (1.27)
608099
SGCA (17q21)
Alpha sarcoglycan



Muscular dystrophy, limb-girdle, type 2E (1.28)
604286
SGCB (4q12)
Beta sarcoglycan



Muscular dystrophy, limb-girdle, type 2F (1.30, 10.50)
601287
SGCD (5q33-q34)
Delta-sarcoglycan



Muscular dystrophy, limb-girdle, type 2G (1.31, 10.52, 2.16, 10.27)
601954
TCAP (17q12)
Telethonin



Muscular dystrophy, limb-girdle, type 2H (1.32, 5.42)
254110
TRIM32 (9q33.2)
Tripartite motif-containing 32



Muscular dystrophy, limb-girdle, type 2I (1.50, 2.22, 2.36)
607155
FKRP (19q13.32)
Fukutin-related protein



Muscular dystrophy, Limb-Girdle, type 2K (2.18, 1.46, 2.32)
609308
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1



Muscular dystrophy, limb-girdle, type IC (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)
607801
CAV3 (3p25.3)
Caveolin 3



Muscular dystrophy, rigid spine, 1 (2.13, 5.13, )
602771
SELENON (1p36.13)
Selenoprotein N1



Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.49)
620375
HMGCR (5q13.3)
3-Hydroxy-3-methylglutaryl-CoA reductase



Myasthenia gravis, autosomal recessive (11.13)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia gravis, familial infantile (11.13)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia gravis, familial infantile, 2 (11.13)
254210
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenia, congenital, 12, with tubular aggregates (11.20)
610542
GFPT1 (2p12-p15)
Glutamine-fructose-6-phosphate transaminase 1



Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)
614198
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Myasthenic syndrome, congenital (11.19, 16.29)
608931
RAPSN (11p11.2-p11.1)
Rapsyn



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



Myasthenic syndrome, congenital, 10 (11.18, 16.28)
254300
DOK7 (4p16.2)
Docking protein 7



Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 16.29)
616326
RAPSN (11p11.2-p11.1)
Rapsyn



Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21)
614750
DPAGT1 (11q23.3)
Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)



Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22)
616228
ALG2 (9q31.1)
Alpha-1,3/1,6-mannosyltransferase



Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23)
607227
ALG14 (1p21.3)
UDP-N-acetylglucosaminyltransferase



Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)
614198
SCN4A (17q23-q25.3)
Sodium channel, voltage-gated, type IV, alpha



Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43)
601462
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43)
608930
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29)
617239
SLC18A3 (10q11.2)
Solute Carrier Family 18 (Vesicular Acetylcholine), Member 3



Myasthenic syndrome, congenital, 22 (11.30)
616224
PREPL (2p21)
Prolyl endopeptidase-like



Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6)
616313
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



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



Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10)
616322
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11)
608931
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



Myasthenic syndrome, congenital, 5 (11.12)
603034 
COLQ (3p25)
Acetylcholinesterase collagen-like tail subunit



Myasthenic syndrome, congenital, 6, presynaptic (11.13)
254210 
CHAT (10q11.2)
Choline acetyltransferase isoform



Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.45, 11.15)
616040
SYT2 (1q32.1)
Synaptotagmin II



Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.45, 11.15)
619461
SYT2 (1q32.1)
Synaptotagmin II



Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 16.27)
616325
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase



Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6)
608931
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43)
608930
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11)
608930
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10)
608930
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.45, 11.15)
616040
SYT2 (1q32.1)
Synaptotagmin II



Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6)
601462
CHRNB1 (17p13.1)
Cholinergic receptor, nicotinic, beta 1 muscle



Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10)
601462
CHRND (2q33-q34)
Cholinergic receptor, nicotinic, delta



Myasthenic syndrome, slow-channel congenital (11.1, 11.5, 11.43)
601462
CHRNA1 (2q24-q32)
Cholinergic receptor, nicotinic, alpha polypeptide 1



Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11)
601462
CHRNE (17p13-p12)
Cholinergic receptor, nicotinic, epsilon



Myasthenic syndrome, with plectin defect (5.27, 1.35, 11.36, 1.59)
PLEC (8q24.3)
Plectin



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



Myofibrillar myopathy 1 (5.1, 10.47, 5.15, 10.135, 11.44)
601419
DES (2q35)
Desmin



Myofibrillar myopathy 10 (5.11)
619040
SVIL (10p11.23)
Supervillin



Myofibrillar myopathy 11 (5.12)
619178
UNC45B (17q12)
UNC45 Myosin Chaperone B



Myofibrillar myopathy related to FILIP1 (5.17)
FILIP1 (6q14.1)
Filamin A-interacting protein 1



myofibrillar myopathy with bag3 defect (5.7, 10.72, 14.82)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3



myofibrillar myopathy ZASP-related (5.5, 10.42, 4.19, 10.26, 10.106)
609452
LDB3 (10q22)
LIM domain binding 3



Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.73, 14.85)
608810
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Myofibrillar myopathy, myotilin related (5.3, 5.4, 4.16, )
609200
MYOT (5q31)
Myotilin



Myopathy centronuclear, 1 (3.19, 2.15, 4.20, 14.16, 12.91)
160150
DNM2 (19p13.2)
Dynamin 2



Myopathy distal, Tateyama type (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16)
614321
CAV3 (3p25.3)
Caveolin 3



Myopathy due to CPT II deficiency (9.18)
255110
CPT2 (1p32)
Carnitine palmitoyltransferase II (M)



Myopathy due to phosphoglycerate mutase deficiency (9.14)
261670
PGAM2 (7p13-p12)
Phosphoglycerate mutase 2 (muscle)



Myopathy microfibrillar type 7 (5.8)
617114
KY (3q22.2)
Kyphoscoliosis peptidase



Myopathy with characteristic sarcoplasmic inclusions (5.43)
MB (22q12.3)
Myoglobin



myopathy with deficiency of succinate dehydrogenase and aconitase (5.38)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



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



myopathy with exercise intolerance, swedish type (5.38)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



Myopathy with extrapyramidal signs (5.47)
615673
MICU1 (10q22.1)
Mitochondrial Calcium Uptake Protein 1



myopathy with lactic acidosis, hereditary (5.38)
255125
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli) (M)



Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis (5.49)
620138
MLIP (6p12.1)
Muscular LMNA-interacting protein



Myopathy with nemaline bodies (3.16)
RYR3 (15q13-q14)
Ryanodine receptor 3



Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 11.41)
617072
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1



Myopathy, cardiomyopathy and congenital myasthenic syndrome (5.1, 10.47, 5.15, 10.135, 11.44)
DES (2q35)
Desmin



Myopathy, congenital, progressive with scoliosis (3.47)
618578
PAX7 (1p36.13)
Paired Box gene 7



Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.45)
618975
MYOD1 (11p15.1)
Myogenic Differentiation Antigen 1



Myopathy, congenital, With excess of muscle spindles (5.46)
218040
HRAS (11p15.5)
V-Ha-RAS Harvey Rat Sarcoma Viral



myopathy, congenital, with fiber-type disproportion (3.2, 3.52, 3.1, 3.3)
255310
ACTA1 (1q42.1)
Alpha actin, skeletal muscle



myopathy, congenital, with fiber-type disproportion (2.13, 5.13, )
255310
SELENON (1p36.13)
Selenoprotein N1



myopathy, congenital, with fiber-type disproportion (10.9, )
255310
MYL2 (12q23-q24.3)
Myosin light chain 2



myopathy, congenital, with fiber-type disproportion (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)



Myopathy, congenital, with malignant hyperthermia susceptibility (3.41, 3.57)
STAC3 (12q13.3)
SH3 and cysteine rich domain 3



Myopathy, Congenital, With Neuropathy And Deafness (14.140)
617519
SPTBN4 (19q13)
Spectrin, Beta, Nonerythrocytic, 4



Myopathy, distal 1 (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)
160500
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Myopathy, distal 6, Adult-onset (10.65, 10.25, 3.34, 4.10)
618655
ACTN2 (1q42-q43)
Actinin alpha2



Myopathy, distal, 4 (5.6, 4.8, 10.28, 10.100)
614065
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



Myopathy, distal, 5 (4.9)
617030
ADSSL1 (14q32-33)
Adénylosuccinate synthase-like



Myopathy, distal, 7 adult onset, X-linked (4.11)
301075
SMPX (Xp22.12)
Small Muscle Protein, X-linked



Myopathy, distal, with rimmed vacuoles (12.83, 4.23, 4.15)
617158
SQSTM1 (5q35.3)
Sequestosome 1



Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.62)
613561
YARS2 (12p11.21)
Tyrosyl-tRNA synthetase 2, mitochondrial (M)



Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.49, 16.73)
617675
MSTO1 (1q22)
Misato homolog 1 (Drosophila) (M)



Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.85)
613076
GFER (16p13.3)
Growth Factor ERV1-Like



Myopathy, myofibrillar, 2 (5.2, 10.73, 14.85)
608810
CRYAB (11q22.3-q23.1)
Crystallin, alpha B



Myopathy, myofibrillar, filamin C-related (5.6, 4.8, 10.28, 10.100)
609524
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)



Myopathy, myosin storage, autosomal dominant (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)
255160
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.31, 5.32, 5.33)
300718
FHL1 (Xq26.3)
Four and a half LIM domain 1



Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.31, 5.32, 5.33)
300717
FHL1 (Xq26.3)
Four and a half LIM domain 1



Myopathy, X-linked, with excessive autophagy (5.19)
310440
VMA21 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)



myosclerosis, autosomal recessive (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3)
255600
COL6A2 (21q22.3)
Alpha 2 type VI collagen



Myosin storage myopathy (4.6, 3.32, 10.57, 3.51, 10.108, 3.33)
608358
MYH7 (14q12)
Myosin, heavy polypeptide 7, cardiac muscle, beta



Myosin, heavy chain, perinatal (16.19)
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, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49)
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 (3.18)
310400
MTM1 (Xq28)
Myotubularin



Myxomatous valvular dystrophy, X-ninked (10.114)
314400
FLNA (Xq28)
Filamin A, alpha (actin binding protein 280)