Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Mannose-P-dolichol utilization defect 1 | |  * Congenital disorder of glycosylation type 1 - CDG1F (9.14)
|
Maspardin | | * Spastic paraplegia 20 - SPG21 (15.32)
| Matrin 3 | | * Vocal cord and pharyngeal distal myopathy - VCPDM (4.13, 12.74)
* Familial amyotrophic lateral sclerosis - ALS21 (4.13, 12.74)
| Membrane metallo-endopeptidase | | * Charcot-Marie-Tooth neuropathy Type 2T - CMT2T (13.39, 14.92)
* Spinocerebellar Ataxia, type 43 - SCA43 (13.39, 14.92)
| MET protooncogene | | * Arthrogryposis, distal type 11 - DA11 (17.21)
| Methionyl-tRNA synthetase | | * Charcot-Marie-Tooth neuropathy Type 2U - CMT2U (14.63, 15.62)
* Spastic paraplegia 70, autosomal recessive - SPG70 (14.63, 15.62)
| Methionyl-tRNA synthetase 2, mitochondrial(M) | | * autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.93)
| Microtubule associated protein Tau | | * Lower motor neuron disease with respiratory failure related to MAPT - (12.111)
| Microtubule-actin cross-linking factor 1 | | * Spectraplakinopathy - (17.35)
| Mindbomb homolog 1 (drosophila) | | * Left ventricular noncompaction 7 - LVNC7 (10.110)
| Minichromosome maintenance 3-associated protein | | * Charcot-Marie-Tooth disease, axonal - (12.112, 14.99)
* Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development - PNRIID (12.112, 14.99)
| Misato homolog 1 (Drosophila)(M) | | * Myopathy, mitochondrial and cerebellar ataxia - MMYAT (2.50, 13.106, 16.29)
| Mitochondrial Calcium Uptake Protein 1 | | * Myopathy with extrapyramidal signs - MPXPS (5.45)
| Mitochondrial carrier; adenine nucleotide translocator(M) | | * Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.2, 16.18, 16.19)
* Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) - MTDPS12B (16.2, 16.18, 16.19)
* Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) - MTDPS12A (16.2, 16.18, 16.19)
| Mitochondrial DNA polymerase, accessory subunit(M) | | * progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.4)
| Mitochondrial genome maintenance exonuclease 1(M) | | * Mitochondrial DNA depletion syndrome 11 - MTDPS11 (16.17)
| Mitochondrial poly(A) polymerase(M) | | * Spastic ataxia 4 autosomal recessive - SPAX4 (15.94)
| Mitochondrial processing peptidase-alpha, KIAA0123(M) | | * Autosomal recessive spinocerebellar ataxia, 2 - SCAR2 (13.62)
| Mitochondrial ribosomal protein L3(M) | | * Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.34)
| Mitochondrial ribosomal protein L44(M) | | * Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.36)
| Mitochondrial ribosomal protein S25(M) | | * Combined oxidative phosphorylation deficiency 50 - COXPD50 (17.47)
| Mitochondrial tRNA translation optimization 1(M) | | * Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.35)
| Mitofusin 2(M) | | * Hereditary motor and sensory neuropathy, type VIA with optic atrophy - HMSN6A (14.48, 14.72, 14.80)
* Hereditary motor and sensory neuropathy 2A - CMT2A2A (14.48, 14.72, 14.80)
* Charcot-Marie-Tooth disease, axonal, type 2A2B - CMT2A2B (14.48, 14.72, 14.80)
| Mitogen-activated protein kinase kinase 20 | | * Centronuclear myopathy 6 with fiber-type disproportion - CNM6 (3.22)
| MORC family CW-type zinc finger 2 | | * Charcot-Marie-Tooth neuropathy Type 2Z - CMT2Z (14.67)
| MpV17 mitochondrial inner membrane protein(M) | | * Charcot-Marie-Tooth disease, axonal, type 2EE - CMT2EE (14.83)
| MRE11 meiotic recombination 11 homolog A | | * ataxia telangiectasia-like disorder - ATLD (13.100)
| Mucopilin 1 | | * Lysosomal storage myopathy - ML4 (3.65)
| Multiple EGF-like-domains 10 | | * Congenital myopathy 10A, severe variant - CMYP10A (3.29, 3.30)
* Congenital myopathy 10B, mild variant - CMYP10B (3.29, 3.30)
| Muscle-related coiled-coil protein | | * Dilated cardiomyopathy related to MURC - (10.93)
| Muscle, skeletal, receptor tyrosine kinase | | * Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 17.28)
* Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 17.28)
* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 (11.17, 17.28)
| Muscular LMNA-interacting protein | | * Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - MMCKR (9.12)
| Myelin associated glycoprotein | | * Spastic paraplegia 75, autosomal recessive - SPG75 (15.65)
| Myelin protein zero | | * Charcot-Marie-Tooth disease, type 1B - CMT1B (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Dejerine-Sottas syndrome - DSSA (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Neuropathy, congenital hypomyelinating, 2 - CHN2 (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, type 2I - CMT2I (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, type 2J - CMT2J (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
* Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID (14.2, 14.17, 14.29, 14.44, 14.55, 14.56)
| Myogenic Differentiation Antigen 1 | | * Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - MYODRIF (3.56)
| Myoglobin | | * Myopathy with characteristic sarcoplasmic inclusions - (5.44)
| Myomaker | | * Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) - CFZS (3.47)
| Myopalladin | | * Hypertrophic cardiomyopathy related to cardiac myopalladin - CMH22 (3.13, 10.24, 10.74, 10.99)
* Nemaline myopathy - NEM11 (3.13, 10.24, 10.74, 10.99)
| Myosin heavy chain 6 | | * Cardiomyopathy, familial hypertrophic 1 - CMH1 (10.1, 10.13, 10.189, 10.68)
* Familial hypertrophic cardiomyopathy, 14 - CMH14 (10.1, 10.13, 10.189, 10.68)
* Cardiomyopathy, dilated, 1EE - CMD1EE (10.1, 10.13, 10.189, 10.68)
* Sick sinus syndrome 3 - SSS3 (10.1, 10.13, 10.189, 10.68)
| Myosin heavy chain, 8, skeletal muscle, perinatal | | * Myosin, heavy chain, perinatal - MYH8 (17.19)
| Myosin IXA | | * Presynaptic congenital myasthenic syndrome 24 - CMS24 (11.32)
| Myosin IXB | | * Charcot-Marie-Tooth disease, axonal - (14.101)
| Myosin light chain 2 | | * Cardiomyopathy, hypertrophic, 10 - CMH10 (10.9)
* myopathy, congenital, with fiber-type disproportion - CFTD (10.9)
* Cardiomyopathy, familial hypertrophic, 10 - CMH10 (10.9)
| Myosin light chain 3 | | * Cardiomopathy, hypertrophic, mid-ventricular chamber type - MYL3 (10.7)
| Myosin light chain kinase 2 | | * cardiomyopathy, familial hypertrophic - CMH (10.15)
| Myosin Light Chain Phosphorylatable Fast Skeletal Muscle | | * Segmental amyoplasia with Distal Arthrogryposis - DA1C (17.36)
| Myosin XVIIIB | | * Nemaline Myopathy with
Cardiomyopathy - (3.14)
* Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism - KFS4 (3.14)
| Myosin-binding proteinC, slow type | | * Arthrogryposis, distal, type 1B - DA1B (3.55, 12.93, 17.10)
* Lethal Congenital Contracture Syndrome 4 - LCCS4 (3.55, 12.93, 17.10)
* Congenital myopathy 16 - CMYP16 (3.55, 12.93, 17.10)
| Myosin, heavy chain 14, non muscle | | * Peripheral neuropathy, myopathy, hoarseness and hearing loss - PNMHH (12.110)
| Myosin, heavy polypeptide 2, skeletal muscle | | * Congenital myopathy 6 with ophtalmoplegia - CMYP6 (3.34)
| Myosin, heavy polypeptide 7, cardiac muscle, beta | | * Myopathy, distal 1 - MPD1 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* cardiomyopathy, familial hypertrophic, 1, included - CMH1 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Congenital myopathy 7B, myosin storage, autosomal recessive - CMYP7B (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Myopathy, myosin storage, autosomal dominant - MSMB (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Myosin storage myopathy - (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Congenital myopathy 7A, myosin storage, autosomal dominant - CMYP7A (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Cardiomyopathy, dilated, 1S - CMD1S (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
* Left ventricular noncompaction 5 - LVNC5 (3.31, 3.32, 3.33, 4.6, 10.108, 10.56)
| Myosin, Light Chain 4, Alkali, Atrial, Embryonic | | * ATFB18 - Atrial fibrillation (10.175)
| Myosin, light polypeptide 1, alkali, skeletal fast | | * Congenital myopathy 14 - CMYP14 (3.53)
| Myosine, heavy chain 3, skeletal muscle, embryonic | | * Arthrogryposis, distal, type 2A - DA2A (17.11, 17.14)
* Arthrogryposis, distal, type 2B - DA2B (17.11, 17.14)
| Myostatin | | * Muscle hypertrophy - MSLHP (5.30)
| Myotilin | | * Muscular dystrophy, Limb-Girdle, type 1A - LGMD1A (4.16, 5.3, 5.4)
* Spheroid body myopathy - (4.16, 5.3, 5.4)
* Myofibrillar myopathy, myotilin related - MFM3 (4.16, 5.3, 5.4)
| Myotonic dystrophy protein kinase | | * Steinert disease - DM1 (6.1)
* Myotonic dystrophy 1 - DM1 (6.1)
* Dystrophia myotonica - DM (6.1)
| Myotubularin | | * Myotubular myopathy, X-linked - MTM1 (3.17)
| Myotubularin-related protein 2 | | * Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 (14.23)
| Myozenin 2, or calsarcin 1, a Z disk protein | | * Hypertrophic cardiomyopathy related to myozenin 2 - (10.17)
* Cardiomyopathy, familial hypertrophic, 16 - CMH16 - CMH16 (10.17)
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