Disease table

A
B
C
D
E
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G
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I
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P
Q
R
S
T
U
V
W
X
Y
Z

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

Malignant hyperthermia susceptibility 1
RYR1 (19q13.1)
ryanodine receptor 1 (skeletal)

Malignant hyperthermia susceptibility 2
? - (17q11.2-q24)
Malignant hyperthermia susceptibility 3
? - (7q21-q22)
Malignant hyperthermia susceptibility 4
? - (3q13.1)
Malignant hyperthermia susceptibility 5
CACNA1S (1q32)
calcium channel, voltage-dependent, L type, alpha 1S subunit

Malignant hyperthermia susceptibility 6
? - (5p)
Mandibuloacral dysplasia with type a lipodystrophy
LMNA (1q21.2-q21.3)
lamin A/C

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

MASA syndrome
L1CAM (Xq28)
L1 cell adhesion molecule

McArdle disease
PYGM (11q12-q13.2)
glycogen phosphorylase

Metavinculin, included
VCL (10q22.1-q23)
vinculin

Migraine familial hemiplegic 1, with progressive cerebellar ataxia
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

Minicore myopathy with external ophthalmoplegia
SEPN1 (1p36.13)
Selenoprotein N1

Minicore myopathy, severe classic form
SEPN1 (1p36.13)
Selenoprotein N1

mitochondrial dna depletion syndrome, encephalomyopathic form, included
RRM2B (8q23.1)
ribonucleotide reductase M2 B ribonucleotide reductase M2 B (TP53 inducible)

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

mitochondrial dna depletion syndrome, myopathic form
TK2 (16q22-q23)

Miyoshi myopathy
DYSF (2p12-14)
dysferlin

Motor neuropathy, distal hereditary, with vocal cord paralysis
? - (5q31)
Motor neuropathy, distal, with vocal cord paralysis
? - (2q14)
Multiple acyl-CoA dehydrogenase deficiency
ETFA (15q23-q25)
electron-transfer-flavoprotein, alpha polypeptide

multiple acyl-coa dehydrogenase deficiency
ETFDH (4q32-q35)
electron-transferring-flavoprotein dehydrogenase

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

Muscle-eye-brain disease
POMT2 (14q24.3)
protein-O-mannosyltransferase 2

Muscle-eye-brain disease
FKRP (19q13.33)
fukutin-related protein

Muscular dystrophy with epidermolysis bullosa simplex
PLEC1 (8q24)
plectin 1, intermediate filament binding protein 500kDa

Muscular dystrophy, autosomal dominant, with rimmed vacuoles
? - (19p13)
Muscular dystrophy, cogenital, due to partial LAMA2 deficiency
LAMA2 (6q22-q23)
laminin alpha 2 chain of merosin

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

Muscular dystrophy, congenital, 1B
? - (1q42)
Muscular dystrophy, congenital, 1C
FKRP (19q13.33)
fukutin-related protein

Muscular dystrophy, facioscapulohumeral
? - (4q35)
Muscular dystrophy, facioscapulohumeral, type 1A
? - (4q35)
Muscular dystrophy, Fukuyama congenital
FCMD (9q31-q33)
fukutin

Muscular dystrophy, Limb-Girdle, type 1A
MYOT (5q31)
myotilin

Muscular dystrophy, limb-girdle, type 1B
LMNA (1q21.2-q21.3)
lamin A/C

Muscular dystrophy, Limb-Girdle, Type 1F
LGMD1F (7q32)
?

Muscular dystrophy, limb-girdle, type 1G
LGMD1G (4q21)
?

Muscular dystrophy, limb-girdle, type 2A
CAPN3 (15q15.1-q21.1)
calpain 3

Muscular dystrophy, limb-girdle, type 2B
DYSF (2p12-14)
dysferlin

Muscular dystrophy, limb-girdle, type 2C
SGCG (13q12)
gamma sarcoglycan

Muscular dystrophy, limb-girdle, type 2D
SGCA (17q21)
alpha sarcoglycan

Muscular dystrophy, limb-girdle, type 2E
SGCB (4q12)
beta sarcoglycan

Muscular dystrophy, limb-girdle, type 2F
SGCD (5q33-q34)
delta-sarcoglycan

Muscular dystrophy, limb-girdle, type 2G
TCAP (17q12)
telethonin

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

Muscular dystrophy, limb-girdle, type 2I
FKRP (19q13.33)
fukutin-related protein

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

Muscular dystrophy, limb-girdle, type 2L
FCMD (9q31-q33)
fukutin

Muscular dystrophy, limb-girdle, type 2L
ANO5 (11p14.3)
anoctamin 5

Muscular dystrophy, limb-girdle, type IC
CAV3 (3p25)
caveolin 3

Muscular dystrophy, proximal, type 1A
MYOT (5q31)
myotilin

Muscular dystrophy, rigid spine, 1
SEPN1 (1p36.13)
Selenoprotein N1

Myasthenia gravis, autosomal recessive
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia gravis, familial infantile
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia gravis, familial infantile, 2
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia, familial infantil, 1
? - (17q13)
Myasthenic syndrome, congenital
RAPSN (11p11.2-p11.1)
rapsyn

Myasthenic syndrome, congenital, Ie, included
CHRNB1 (17p13.1)
cholinergic receptor, nicotinic, beta 1 muscle

Myasthenic syndrome, fast-channel congenital
CHRNA1 (2q24-q32)
Acetylcholine receptor
cholinergic receptor, nicotinic, alpha1 muscle

Myasthenic syndrome, fast-channel congenital
CHRND (2q33-q34)
cholinergic receptor, nicotinic, delta

Myasthenic syndrome, fast-channel congenital
CHRNE (17p13-p12)
cholinergic receptor, nicotinic, epsilon

myasthenic syndrome, myopathy and epidermis bullosa
PLEC1 (8q24)
plectin 1, intermediate filament binding protein 500kDa

Myasthenic syndrome, slow-channel congenital
CHRNA1 (2q24-q32)
Acetylcholine receptor
cholinergic receptor, nicotinic, alpha1 muscle

Myasthenic syndrome, slow-channel congenital
CHRNB1 (17p13.1)
cholinergic receptor, nicotinic, beta 1 muscle

Myasthenic syndrome, slow-channel congenital
CHRND (2q33-q34)
cholinergic receptor, nicotinic, delta

Myasthenic syndrome, slow-channel congenital
CHRNE (17p13-p12)
cholinergic receptor, nicotinic, epsilon

Myoclonus-dystonia syndrome
SGCE (7q21-q22)
sarcoglycan, epsilon

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

myofibrillar myopathy ZASP-related
LDB3 (10q22)
LIM domain binding 3

Myoglobinuria/hemolysis due to PGK deficiency
PGK1 (Xq13)
phosphoglycerate kinase 1

Myopathy due to CPT II deficiency
CPT2 (1p32)
carnitine palmitoyltransferase II

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

Myopathy myofibrillar
MYOT (5q31)
myotilin

myopathy with deficiency of succinate dehydrogenase and aconitase
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

myopathy with exercise intolerance, swedish type
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles
MYH2 (17p13.1)

myopathy with lactic acidosis, hereditary
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

Myopathy, actin
ACTA1 (1q42.13-q42.2)
alpha actin, skeletal muscle

Myopathy, cardioskeletal, desmin-related, with cataract
CRYAB (11q22.3-q23.1)
crystallin, alpha B

Myopathy, centronuclear, autosomal dominant
DNM2 (19p13.2)
dynamin 2

Myopathy, congenital
ITGA7 (12q13)
integrin alpha 7 precursor

myopathy, congenital, with fiber-type disproportion
ACTA1 (1q42.13-q42.2)
alpha actin, skeletal muscle

myopathy, congenital, with fiber-type disproportion
SEPN1 (1p36.13)
Selenoprotein N1

myopathy, congenital, with fiber-type disproportion
TPM3 (1q21-q23)
tropomyosin 3

Myopathy, desmin-related, cardioskeletal
DES (2q35)
desmin

Myopathy, distal 1
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

Myopathy, distal 2
MATR3 (5q31)

Myopathy, distal, early-onset, autosomal dominant
? - (14q)
Myopathy, distal, with anterior tibial onset
DYSF (2p12-14)
dysferlin

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

Myopathy, nemaline
ACTA1 (1q42.13-q42.2)
alpha actin, skeletal muscle

Myopathy, proximal, with earlyh respiratory muscle involvement
Myopathy, X-linked, with excessive autophagy
VMA21 (Xq28)
vacuolar H+-ATPase homolog (S. cerevisiae)

Myosin storage myopathy
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

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

Myostatin
GDF8 (2Q32)
myostatin, muscular hypertrophy

Myotonia congenita, atypical, acetazolamide-responsive
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha

Myotonia congenita, autosomal dominant, Thomsen disease
CLCN1 (7q35)
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

Myotonia congenita, autosomal recessive, Becker disease
CLCN1 (7q35)
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

Myotonia recessive
CLCN1 (7q35)
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

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

Myotonic dystrophy, type 2
ZNF9 (3q21)
zinc finger protein 9

Myotubular myopathy, X-linked
MTM1 (Xq28)
myotubularin

MYXOMATOUS VALVULAR DYSTROPHY, X-LINKED
FLNA (Xq28)
filamin A, alpha (actin binding protein 280)