Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Machado-Joseph disease (13.3) | 109150 | |
Malignant hyperthermia susceptibility 1 (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 145600 | |
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 | |
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 | |
Marinesco-Sjogren syndrome (13.97) | 248800 | |
Marssili syndrome (insensitivity to pain, congenital, AD) (14.124) | 147430 | |
MASA syndrome (15.84) | 303350 | |
McArdle disease (9.4) | 232600 | |
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.59) | 618416 | |
minicore myopathy with external ophthalmoplegia (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | 255320 | |
Mitochondrial complex 1 deficiency, nuclear type 11 (10.32) | 618234 | |
Mitochondrial complex 1 deficiency, nuclear type 20 (9.25) | 611126 | |
Mitochondrial complex I deficiency, nuclear type 29 (16.82) | 618250 | |
Mitochondrial complex IV deficiency (16.87) | 619355 | |
Mitochondrial complex IV deficiency, nuclear type 11 (12.111) | 619054 | |
Mitochondrial complex IV deficiency, nuclear type 18 (16.70) | 220110 | |
Mitochondrial complex IV deficiency, nuclear type 2 (10.38, 14.99) | 604377 | |
Mitochondrial complex IV deficiency, nuclear type 6 (10.39) | 615119 | |
Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.45) | 603041 | |
Mitochondrial DNA depletion syndrome 11 (16.54) | 615084 | |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.35, 16.56, 16.55) | 617184 | |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.35, 16.56, 16.55) | 615418 | |
Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.57) | 615471 | |
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.60, 16.58) | 616896 | |
Mitochondrial DNA depletion syndrome 20 (MNGIE type) (16.86) | 619780 | |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.43, 16.47) | 251880 | |
Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.34, 13.98, 16.40, 16.49, 16.48) | 203700 | |
Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.34, 13.98, 16.40, 16.49, 16.48) | 613662 | |
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.50) | 612073 | |
Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.52, 16.38, 16.51) | 612075 | |
Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.53) | 245400 | |
Mitochondrial dna depletion syndrome, myopathic form (16.46, 13.29, 16.42) | 609560 | |
Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.34) | 614096 | |
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.37) | 615395 | |
Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.36) | 614702 | |
Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.33) | 610505 | |
Mitochondrial myopathy (16.59) | ||
Mitochondrial myopathy and multiple mtDNA deletions (16.89) | ||
Mitochondrial myopathy and sideroblastic anemia 1 (16.61) | 600462 | |
Mitochondrial myopathy related to SLC25A26 (16.88) | ||
Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.83) | ||
Mitochondrial myopathy with severe neurological manifestations (16.71) | ||
Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.80) | 251900 | |
Miyoshi muscular dystrophy 2 (4.2) | 613318 | ? - (8q22.3) |
Miyoshi muscular dystrophy 3
(1.34, 4.3, 1.14) | 613319 | |
Miyoshi myopathy (4.1, 1.26) | 254130 | |
Multiminicore disease, classical form (2.13, 5.13, ) | 255320 | |
Multiple acyl-coa dehydrogenase deficiency (9.23) | 231680 | |
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21) | 231680 | |
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22) | 231680 | |
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23) | 231680 | |
Muscle dystrophy with congenital disorder of glycosylation (2.43) | ||
Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56, 2.39) | 612937 | |
Muscle hypertrophy (5.28) | 614160 | |
Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.40, 5.48) | ||
Muscle-eye-brain disease (1.55, 2.38, 2.31, 11.37) | 615350 | |
Muscle-eye-brain disease (1.50, 2.22, 2.36) | ||
Muscle-eye-brain disease (2.19, 2.33, 1.47) | ||
Muscular dystrophy related to GOSR2 (2.52, ) | 604027 | |
Muscular dystrophy with gnathodiaphyseal dysplasia (1.34, 4.3, 1.14) | ||
Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15) | 619518 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.52) | 614830 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 2.33, 1.47) | 613150 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.34, 2.20, 1.48) | 253280 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 1.46, 2.32) | 236670 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.23, 2.37) | 613154 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.50, 2.22, 2.36) | 613153 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), ( | 614643 | |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 10.62, ) | 253800 | |
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.56, 2.39) | 618992 | |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.34, 2.20, 1.48) | 613151 | |
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.23, 2.37) | 608840 | |
Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.50, 2.22, 2.36) | 606612 | |
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.35, 2.21, 10.62, ) | 613152 | |
Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.53, 2.26) | 613818 | |
Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.29, 1.54) | 616094 | |
Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.18, 1.46, 2.32) | 607423 | |
Muscular dystrophy, autosomal dominant, with rimmed vacuoles () | 601846 | ? - (19p13) |
Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.5) | ||
Muscular dystrophy, congenital merosin-deficient (2.1, 1.41) | 607855 | |
Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14) | 613204 | |
Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48) | 617404 | |
Muscular dystrophy, facioscapulohumeral, type 1A (1.10) | 158900 | |
Muscular dystrophy, LGMDR27 (1.44) | 619566 | |
Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.34, 4.3, 1.14) | 611307 | |
Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.34, 2.20, 1.48) | 613157 | |
Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16, ) | 159000 | |
Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.40, 2.17, 14.88) | 159001 | |
Muscular dystrophy, Limb-Girdle, Type 1F (1.17, ) | 608423 | |
Muscular dystrophy, limb-girdle, type 1G ( | 609115 | ? - (4q21) |
Muscular dystrophy, limb-girdle, type 2A (1.25, 1.19) | 253600 | |
Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26) | 253601 | |
Muscular dystrophy, limb-girdle, type 2C (1.29) | 253700 | |
Muscular dystrophy, limb-girdle, type 2D (1.27) | 608099 | |
Muscular dystrophy, limb-girdle, type 2E (1.28) | 604286 | |
Muscular dystrophy, limb-girdle, type 2F (1.30, 10.50) | 601287 | |
Muscular dystrophy, limb-girdle, type 2G (1.31, 10.52, 2.16, 10.27) | 601954 | |
Muscular dystrophy, limb-girdle, type 2H (1.32, 5.42) | 254110 | |
Muscular dystrophy, limb-girdle, type 2I (1.50, 2.22, 2.36) | 607155 | |
Muscular dystrophy, Limb-Girdle, type 2K (2.18, 1.46, 2.32) | 609308 | |
Muscular dystrophy, limb-girdle, type IC (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 607801 | |
Muscular dystrophy, rigid spine, 1 (2.13, 5.13, ) | 602771 | |
Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.49) | 620375 | |
Myasthenia gravis, autosomal recessive (11.13) | 254210 | |
Myasthenia gravis, familial infantile (11.13) | 254210 | |
Myasthenia gravis, familial infantile, 2 (11.13) | 254210 | |
Myasthenia, congenital, 12, with tubular aggregates (11.20) | 610542 | |
Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | 614198 | |
Myasthenic syndrome, congenital (11.19, 16.29) | 608931 | |
Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency (11.1, 11.5, 11.43) | ||
Myasthenic syndrome, congenital, 10 (11.18, 16.28) | 254300 | |
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 16.29) | 616326 | |
Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21) | 614750 | |
Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22) | 616228 | |
Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23) | 607227 | |
Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | 614198 | |
Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43) | 601462 | |
Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43) | 608930 | |
Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29) | 617239 | |
Myasthenic syndrome, congenital, 22 (11.30) | 616224 | |
Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6) | 616313 | |
Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6) | ||
Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10) | 616322 | |
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11) | 608931 | |
Myasthenic syndrome, congenital, 5 (11.12) | 603034 | |
Myasthenic syndrome, congenital, 6, presynaptic (11.13) | 254210 | |
Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.45, 11.15) | 616040 | |
Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.45, 11.15) | 619461 | |
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 16.27) | 616325 | |
Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6) | 608931 | |
Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43) | 608930 | |
Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11) | 608930 | |
Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10) | 608930 | |
Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.45, 11.15) | 616040 | |
Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6) | 601462 | |
Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10) | 601462 | |
Myasthenic syndrome, slow-channel congenital (11.1, 11.5, 11.43) | 601462 | |
Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11) | 601462 | |
Myasthenic syndrome, with plectin defect (5.27, 1.35, 11.36, 1.59) | ||
Myoclonus-dystonia syndrome (16.2) | 159900 | |
Myofibrillar myopathy 1 (5.1, 10.47, 5.15, 10.135, 11.44) | 601419 | |
Myofibrillar myopathy 10 (5.11) | 619040 | |
Myofibrillar myopathy 11 (5.12) | 619178 | |
Myofibrillar myopathy related to FILIP1 (5.17) | ||
myofibrillar myopathy with bag3 defect (5.7, 10.72, 14.82) | ||
myofibrillar myopathy ZASP-related (5.5, 10.42, 4.19, 10.26, 10.106) | 609452 | |
Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.73, 14.85) | 608810 | |
Myofibrillar myopathy, myotilin related (5.3, 5.4, 4.16, ) | 609200 | |
Myopathy centronuclear, 1 (3.19, 2.15, 4.20, 14.16, 12.91) | 160150 | |
Myopathy distal, Tateyama type (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 614321 | |
Myopathy due to CPT II deficiency (9.18) | 255110 | |
Myopathy due to phosphoglycerate mutase deficiency (9.14) | 261670 | |
Myopathy microfibrillar type 7 (5.8) | 617114 | |
Myopathy with characteristic sarcoplasmic inclusions (5.43) | ||
myopathy with deficiency of succinate dehydrogenase and aconitase (5.38) | 255125 | |
Myopathy with early respiratory failure (5.16) | ||
myopathy with exercise intolerance, swedish type (5.38) | 255125 | |
Myopathy with extrapyramidal signs (5.47) | 615673 | |
myopathy with lactic acidosis, hereditary (5.38) | 255125 | |
Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis (5.49) | 620138 | |
Myopathy with nemaline bodies (3.16) | ||
Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 11.41) | 617072 | |
Myopathy, cardiomyopathy and congenital myasthenic syndrome (5.1, 10.47, 5.15, 10.135, 11.44) | ||
Myopathy, congenital, progressive with scoliosis (3.47) | 618578 | |
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.45) | 618975 | |
Myopathy, congenital, With excess of muscle spindles (5.46) | 218040 | |
myopathy, congenital, with fiber-type disproportion (3.2, 3.52, 3.1, 3.3) | 255310 | |
myopathy, congenital, with fiber-type disproportion (2.13, 5.13, ) | 255310 | |
myopathy, congenital, with fiber-type disproportion (10.9, ) | 255310 | |
myopathy, congenital, with fiber-type disproportion (8.1, 3.27, 3.28, 3.24, 5.39, 3.26, 2.50, 16.31, 3.60) | ||
Myopathy, congenital, with malignant hyperthermia susceptibility (3.41, 3.57) | ||
Myopathy, Congenital, With Neuropathy And Deafness (14.140) | 617519 | |
Myopathy, distal 1 (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 160500 | |
Myopathy, distal 6, Adult-onset (10.65, 10.25, 3.34, 4.10) | 618655 | |
Myopathy, distal, 4 (5.6, 4.8, 10.28, 10.100) | 614065 | |
Myopathy, distal, 5 (4.9) | 617030 | |
Myopathy, distal, 7 adult onset, X-linked (4.11) | 301075 | |
Myopathy, distal, with rimmed vacuoles (12.83, 4.23, 4.15) | 617158 | |
Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.62) | 613561 | |
Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.49, 16.73) | 617675 | |
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.85) | 613076 | |
Myopathy, myofibrillar, 2 (5.2, 10.73, 14.85) | 608810 | |
Myopathy, myofibrillar, filamin C-related (5.6, 4.8, 10.28, 10.100) | 609524 | |
Myopathy, myosin storage, autosomal dominant (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 255160 | |
Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.31, 5.32, 5.33) | 300718 | |
Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.31, 5.32, 5.33) | 300717 | |
Myopathy, X-linked, with excessive autophagy (5.19) | 310440 | |
myosclerosis, autosomal recessive (2.5, 2.4, 2.7, 2.12, 1.39, 1.21, 2.3) | 255600 | |
Myosin storage myopathy (4.6, 3.32, 10.57, 3.51, 10.108, 3.33) | 608358 | |
Myosin, heavy chain, perinatal (16.19) | 160741 | |
Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2) | 160800 | |
Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2) | 255700 | |
Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.24, 3.48, 16.33, 3.49) | 608390 | |
Myotonia recessive (7.1, 6.3, 6.4, 7.2) | 255700 | |
Myotonic dystrophy 1 (6.1) | 160900 | |
Myotonic dystrophy, type 2 (6.2) | 602668 | |
Myotubular myopathy, X-linked (3.18) | 310400 | |
Myxomatous valvular dystrophy, X-ninked (10.114) | 314400 |