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, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | 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, 3.44, 1.23, 3.57) | 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, 10.39, 2.17, 14.81) | 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) (14.121) | 147430 | ZFHX2 (14q11.2) Zinc finger homeobox 2 |
| MASA syndrome (15.87) | 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 (17.38) | 618416 | SLC25A42 (19p13.11) Solute carrier family 25 member 42 (M) |
| minicore myopathy with external ophthalmoplegia (8.1, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | 255320 | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) |
| Mitochondrial complex 1 deficiency, nuclear type 11 (10.31) | 618234 | NDUFAF1 (15q15.1) NADH-ubiquinone oxidoreductase 1 alpha subcomplex (M) |
| Mitochondrial complex 1 deficiency, nuclear type 20 (9.29) | 611126 | ACAD9 (3q21.3) Acyl-CoA dehydrogenase family member 9 (M) |
| Mitochondrial complex I deficiency, nuclear type 29 (16.31) | 618250 | TMEM126B (11q14.1) Transmembrane protein 126B (M) |
| Mitochondrial complex IV deficiency (16.34) | 619355 | COX16 (14q24.2) Cytochrome c Oxidase Assembly Factor 16 |
| Mitochondrial complex IV deficiency, nuclear type 11 (12.114) | 619054 | COX20 (1q44) Cytochrome c Oxidase Assembly Factor COX20 |
| Mitochondrial complex IV deficiency, nuclear type 18 (16.26) | 220110 | COX6A2 (16p11.2) Cytochrome c-oxidase, subunit 6A2 (M) |
| Mitochondrial complex IV deficiency, nuclear type 2 (10.37, 14.96) | 604377 | SCO2 (22q13.33) Cytochrome c oxidase assembly protein (M) |
| Mitochondrial complex IV deficiency, nuclear type 6 (10.38) | 615119 | COX15 (10q24) COX15 homolog, cytochrome c oxidase assembly protein (yeast) (M) |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.12) | 603041 | TYMP (22q13.33) Thymidine phosphorylase |
| Mitochondrial DNA depletion syndrome 11 (16.17) | 615084 | MGME1 (20p11.23) Mitochondrial genome maintenance exonuclease 1 (M) |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.2, 16.19, 16.18) | 617184 | SLC25A4 (4q35) Mitochondrial carrier; adenine nucleotide translocator (M) |
| Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.2, 16.19, 16.18) | 615418 | SLC25A4 (4q35) Mitochondrial carrier; adenine nucleotide translocator (M) |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (17.43) | 615471 | FBXL4 (6q16.1-q16.2) F-box and leucine-rich repeat protein 4 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.21, 16.20) | 616896 | OPA1 (3q28-q29) optic atrophy 1 (M) |
| Mitochondrial DNA depletion syndrome 20 (MNGIE type) (17.54) | 619780 | LIG3 (17q12) Ligase III DNA ATP-Dependent |
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.10, 16.14) | 251880 | DGUOK (2p13.1) Deoxyguanosine kinase (M) |
| Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.1, 13.98, 16.7, 16.16, 16.15) | 203700 | POLG (15q25) Polymerase (DNA directed), gamma (M) |
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.1, 13.98, 16.7, 16.16, 16.15) | 613662 | POLG (15q25) Polymerase (DNA directed), gamma (M) |
| Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (17.39) | 612073 | SUCLA2 (13q12.2-q13.3) Succinate-CoA ligase, ADP-forming, beta subunit (M) |
| Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (17.41, 16.5, 17.40) | 612075 | RRM2B (8q23.1) Ribonucleotide reductase M2 B (TP53 inducible) (M) |
| Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (17.42) | 245400 | SUCLG1 (2p11.2) Succinate-CoA ligase, alpha subunit (M) |
| Mitochondrial dna depletion syndrome, myopathic form (16.13, 13.28, 16.9) | 609560 | TK2 (16q22-q23) Thymidine kinase 2, mitochondrial (M) |
| Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.33) | 614096 | AARS2 (6p21.1) Alanyl-tRNA synthetase 2, mitochondrial (M) |
| Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.36) | 615395 | MRPL44 (2q36.1) Mitochondrial ribosomal protein L44 (M) |
| Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.35) | 614702 | MTO1 (6q13) Mitochondrial tRNA translation optimization 1 (M) |
| Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.32) | 610505 | TSFM (12q14.1) Ts translation elongation factor, mitochondrial (M) |
| Mitochondrial myopathy (17.38) | SLC25A42 (19p13.11) Solute carrier family 25 member 42 (M) | |
| Mitochondrial myopathy and multiple mtDNA deletions (16.36) | ENDOG (9q34.11) Endonuclease G, mitochondrial | |
| Mitochondrial myopathy and sideroblastic anemia 1 (16.22) | 600462 | PUS1 (12q24.33) Pseudouridylate synthase 1 (M) |
| Mitochondrial myopathy related to SLC25A26 (16.35) | SLC25A26 (3p14.1) Solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 26 | |
| Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.32) | APOO (Xp22.11) Apolipoprotein O (M) | |
| Mitochondrial myopathy with severe neurological manifestations (16.27) | TMEM65 (8q24.13) Transmembrane Protein 65 | |
| Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.30) | 251900 | FDX2 (19p13.2) Ferredoxin (M) |
| Miyoshi muscular dystrophy 2 (4.2) | 613318 | ? - (8q22.3) |
| Miyoshi muscular dystrophy 3
(1.33, 4.3, 1.14) | 613319 | ANO5 (11p14-12) Anoctamin 5 |
| Miyoshi myopathy (4.1, 1.25) | 254130 | DYSF (2p12-14) Dysferlin |
| Multiminicore disease, classical form (2.13, 5.13) | 255320 | SELENON (1p36.13) Selenoprotein N1 |
| Multiple acyl-coa dehydrogenase deficiency (9.27) | 231680 | ETFDH (4q32-q35) Electron-transferring-flavoprotein dehydrogenase (M) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.25) | 231680 | ETFA (15q23-q25) Electron-transfer-flavoprotein, alpha polypeptide (M) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.26) | 231680 | ETFB (19q13.3-q13.4) Electron-transfer-flavoprotein, beta polypeptide (M) |
| Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.27) | 231680 | ETFDH (4q32-q35) Electron-transferring-flavoprotein dehydrogenase (M) |
| Multiple mitochondrial dysfunctions syndrome 10 (16.37) | 620960 | CIAO1 (2q11.2) WD40 repeat-containing protein CIAO1 |
| Muscle dystrophy with congenital disorder of glycosylation (9.16) | DPM2 (9q34.13) Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit | |
| Muscle dystrophy with congenital disorder of glycosylation, type Io (1.53, 2.40) | 612937 | DPM3 (1q22) Dolichyl-phosphate mannosyltransferase polypeptide 3 |
| Muscle hypertrophy (5.30) | 614160 | MSTN (2q32.2) Myostatin |
| Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.41, 5.46) | STIM1 (11p15.4) Stromal interaction molecule 1 | |
| Muscle-eye-brain disease (1.52, 2.39, 2.32, 11.37) | 615350 | GMPPB (3p21.31) GDP-mannose pyrophosphorylase B |
| Muscle-eye-brain disease (1.47, 2.23, 2.37) | FKRP (19q13.32) Fukutin-related protein | |
| Muscle-eye-brain disease (2.20, 2.34, 1.44) | POMT2 (14q24.3) Protein-O-mannosyltransferase 2 | |
| Muscular dystrophy related to GOSR2 (2.43) | 604027 | GOSR2 (17q21.32) Golgi SNAP receptor complex member 2 |
| Muscular dystrophy with gnathodiaphyseal dysplasia (1.33, 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, (2.26, 1.49) | 614830 | POMGNT2 (3p22.1) protein O-linked mannose N-acetylglucosaminyltransferase 2 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 2.34, 1.44) | 613150 | POMT2 (14q24.3) Protein-O-mannosyltransferase 2 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 1.45) | 253280 | POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 1.43, 2.33) | 236670 | POMT1 (9q34.1) Protein-O-mannosyltransferase 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 2.38) | 613154 | LARGE1 (22q12.3) LARGE xylosyl- and glucuronyltransferase 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.47, 2.23, 2.37) | 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), (1.46, 2.36, 2.22, 10.61) | 253800 | FKTN (9q31-q33) Fukutin |
| Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.53, 2.40) | 618992 | DPM3 (1q22) Dolichyl-phosphate mannosyltransferase polypeptide 3 |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.35, 2.21, 1.45) | 613151 | POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.24, 2.38) | 608840 | LARGE1 (22q12.3) LARGE xylosyl- and glucuronyltransferase 1 |
| Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.47, 2.23, 2.37) | 606612 | FKRP (19q13.32) Fukutin-related protein |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (1.46, 2.36, 2.22, 10.61) | 613152 | FKTN (9q31-q33) Fukutin |
| Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.50, 2.27) | 613818 | DAG1 (3p21) Dystroglycan1 |
| Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.30, 1.51) | 616094 | POMK (8p11.21) Protein-O-mannose kinase |
| Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.19, 1.43, 2.33) | 607423 | POMT1 (9q34.1) Protein-O-mannosyltransferase 1 |
| Muscular dystrophy, autosomal dominant, with rimmed vacuoles ( | 601846 | ? - (19p13) |
| Muscular dystrophy, congenital Davignon-Chauveau type (2.48, 12.16) | TRIP4 (15q22.31) Thyroid hormone receptor interactor 4 | |
| Muscular dystrophy, congenital merosin-deficient (2.1, 1.37) | 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 (2.49) | 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 (1.40) | 619566 | JAG2 (14q32.33) Jagged 2 |
| Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.33, 4.3, 1.14) | 611307 | ANO5 (11p14-12) Anoctamin 5 |
| Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.35, 2.21, 1.45) | 613157 | POMGNT1 (1p34.1) O-linked mannose beta1,2-N-acetylglucosaminyltransferase |
| Muscular dystrophy, limb-girdle, autosomal recessive 29 (1.42) | 620793 | SNUPN (15q24.2) Surportin 1 |
| 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, 10.39, 2.17, 14.81) | 159001 | LMNA (1q22) Lamin A/C |
| Muscular dystrophy, Limb-Girdle, Type 1F (1.17, 3.62) | 608423 | TNPO3 (7q32.1-q32.2) Transportin 3 |
| Muscular dystrophy, limb-girdle, type 1G ( | 609115 | ? - (4q21) |
| Muscular dystrophy, limb-girdle, type 2A (1.24, 1.19) | 253600 | CAPN3 (15q15.1-q21.1) Calpain 3 |
| Muscular dystrophy, limb-girdle, type 2B (4.1, 1.25) | 253601 | DYSF (2p12-14) Dysferlin |
| Muscular dystrophy, limb-girdle, type 2C (1.28) | 253700 | SGCG (13q12) Gamma sarcoglycan |
| Muscular dystrophy, limb-girdle, type 2D (1.26) | 608099 | SGCA (17q21) Alpha sarcoglycan |
| Muscular dystrophy, limb-girdle, type 2E (1.27) | 604286 | SGCB (4q12) Beta sarcoglycan |
| Muscular dystrophy, limb-girdle, type 2F (1.29, 10.49) | 601287 | SGCD (5q33-q34) Delta-sarcoglycan |
| Muscular dystrophy, limb-girdle, type 2G (10.51, 2.16, 10.27) | 601954 | TCAP (17q12) Telethonin |
| Muscular dystrophy, limb-girdle, type 2H (1.31, 3.42) | 254110 | TRIM32 (9q33.2) Tripartite motif-containing 32 |
| Muscular dystrophy, limb-girdle, type 2I (1.47, 2.23, 2.37) | 607155 | FKRP (19q13.32) Fukutin-related protein |
| Muscular dystrophy, Limb-Girdle, type 2K (2.19, 1.43, 2.33) | 609308 | POMT1 (9q34.1) Protein-O-mannosyltransferase 1 |
| Muscular dystrophy, limb-girdle, type IC (1.20, 6.6, 5.32, 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 (1.41) | 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, 3.59, 17.34, 3.60) | 614198 | SCN4A (17q23-q25.3) Sodium channel, voltage-gated, type IV, alpha |
| Myasthenic syndrome, congenital (11.19, 17.30) | 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, 17.29) | 254300 | DOK7 (4p16.2) Docking protein 7 |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 17.30) | 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, 3.59, 17.34, 3.60) | 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, 12.46, 11.15) | 616040 | SYT2 (1q32.1) Synaptotagmin II |
| Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.46, 11.15) | 619461 | SYT2 (1q32.1) Synaptotagmin II |
| Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 17.28) | 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, 12.46, 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 (5.29, 1.34, 11.36, 1.57) | PLEC (8q24.3) Plectin | |
| Myoclonus-dystonia syndrome (17.2) | 159900 | SGCE (7q21-q22) Sarcoglycan, epsilon |
| Myofibrillar myopathy 1 (5.1, 10.46, 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 with bag3 defect (5.7, 10.71, 14.75) | BAG3 (10q25.2-q26.2) BCL2-associated athanogene 3 | |
| myofibrillar myopathy ZASP-related (5.5, 10.41, 4.19, 10.26, 10.106) | 609452 | LDB3 (10q22) LIM domain binding 3 |
| Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.72, 14.78) | 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 (3.18, 2.15, 4.20, 14.15, 12.94) | 160150 | DNM2 (19p13.2) Dynamin 2 |
| Myopathy distal, Tateyama type (1.20, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | 614321 | CAV3 (3p25.3) Caveolin 3 |
| Myopathy due to CPT II deficiency (9.22) | 255110 | CPT2 (1p32) Carnitine palmitoyltransferase II (M) |
| Myopathy due to phosphoglycerate mutase deficiency (9.18) | 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 (5.44) | MB (22q12.3) Myoglobin | |
| myopathy with deficiency of succinate dehydrogenase and aconitase (5.39) | 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 (5.39) | 255125 | ISCU (12q24.1) Iron-sulfur cluster scaffold homolog (E. coli) (M) |
| Myopathy with extrapyramidal signs (5.45) | 615673 | MICU1 (10q22.1) Mitochondrial Calcium Uptake Protein 1 |
| myopathy with lactic acidosis, hereditary (5.39) | 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 (9.12) | 620138 | MLIP (6p12.1) Muscular LMNA-interacting protein |
| Myopathy with nemaline bodies (3.15) | 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, 10.46, 5.15, 10.135, 11.44) | DES (2q35) Desmin | |
| Myopathy, congenital, progressive with scoliosis (3.58) | 618578 | PAX7 (1p36.13) Paired Box gene 7 |
| Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.56) | 618975 | MYOD1 (11p15.1) Myogenic Differentiation Antigen 1 |
| Myopathy, congenital, With excess of muscle spindles (3.46) | 218040 | HRAS (11p15.5) V-Ha-RAS Harvey Rat Sarcoma Viral |
| myopathy, congenital, with fiber-type disproportion (3.2, 3.38, 3.1, 3.37, 2.46) | 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, 3.26, 3.27, 3.23, 5.40, 3.25, 2.51, 17.32, 3.64) | RYR1 (19q13.1) Ryanodine receptor 1 (skeletal) | |
| Myopathy, congenital, with malignant hyperthermia susceptibility (3.51, 3.52) | STAC3 (12q13.3) SH3 and cysteine rich domain 3 | |
| Myopathy, Congenital, With Neuropathy And Deafness (3.45) | 617519 | SPTBN4 (19q13) Spectrin, Beta, Nonerythrocytic, 4 |
| Myopathy, distal 1 (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | 160500 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Myopathy, Distal 3 (4.7, 12.73, 3.35) | 610099 | HNRNPA1 (12q13.13) Heterogeneous nuclear ribonucleoprotein A1 |
| Myopathy, distal 6, Adult-onset (10.64, 10.25, 3.48, 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 | ADSS1 (14q32-33) Adenylosuccinate synthase 1 |
| Myopathy, distal, 7 adult onset, X-linked (4.11) | 301075 | SMPX (Xp22.12) Small Muscle Protein, X-linked |
| Myopathy, distal, with rimmed vacuoles (12.87, 4.23, 4.15) | 617158 | SQSTM1 (5q35.3) Sequestosome 1 |
| Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.23) | 613561 | YARS2 (12p11.21) Tyrosyl-tRNA synthetase 2, mitochondrial (M) |
| Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.50, 16.29) | 617675 | MSTO1 (1q22) Misato homolog 1 (Drosophila) (M) |
| Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.33) | 613076 | GFER (16p13.3) Growth Factor ERV1-Like |
| Myopathy, myofibrillar, 2 (5.2, 10.72, 14.78) | 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, 3.31, 10.56, 3.33, 10.108, 3.32) | 255160 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.33, 5.34, 5.35) | 300718 | FHL1 (Xq26.3) Four and a half LIM domain 1 |
| Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.33, 5.34, 5.35) | 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, 2.3) | 255600 | COL6A2 (21q22.3) Alpha 2 type VI collagen |
| Myosin storage myopathy (4.6, 3.31, 10.56, 3.33, 10.108, 3.32) | 608358 | MYH7 (14q12) Myosin, heavy polypeptide 7, cardiac muscle, beta |
| Myosin, heavy chain, perinatal (17.19) | 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, 3.59, 17.34, 3.60) | 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 (3.17) | 310400 | MTM1 (Xq28) Myotubularin |
| Myxomatous valvular dystrophy, X-ninked (10.114) | 314400 | FLNA (Xq28) Filamin A, alpha (actin binding protein 280) |