Disease table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Disease phenotype
OMIM
Gene symbol (chromosome)
protein
Machado-Joseph disease (13.3)
ATXN3 (14q24.3-q32.2)
ataxin 3

Malignant hyperthermia susceptibility 1 (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12)
RYR1 (19q13.1)
ryanodine receptor 1 (skeletal)

Malignant hyperthermia susceptibility 2 (8.2)
? - (17q11.2-q24)
Malignant hyperthermia susceptibility 3 (8.3)
? - (7q21-q22)
Malignant hyperthermia susceptibility 4 (8.4)
? - (3q13.1)
Malignant hyperthermia susceptibility 5 (7.8, 8.5)
CACNA1S (1q32)
calcium channel, voltage-dependent, L type, alpha 1S subunit

Malignant hyperthermia susceptibility 6 (8.6)
? - (5p)
Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Marinesco-Sjogren syndrome (13.50)
SIL1 (5q31)
SIL1 homolog, endoplasmic reticulum chaperone

MASA syndrome (15.43)
L1CAM (Xq28)
L1 cell adhesion molecule

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

Migraine familial hemiplegic 1, with progressive cerebellar ataxia (7.9, 13.6, 13.35, 7.10, 13.30)
CACNA1A (19p13.2-p13.1)
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit

minicore myopathy with external ophthalmoplegia (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12)
RYR1 (19q13.1)
ryanodine receptor 1 (skeletal)

Mitochondrial dna depletion syndrome 8A (16.23, 16.20)
RRM2B (8q23.1)
ribonucleotide reductase M2 B (TP53 inducible)

Mitochondrial dna depletion syndrome, myopathic form (16.21, 13.28)
TK2 (16q22-q23)
Thymidine kinase 2, mitochondrial

Mitochondrial dna depletion syndrome, myopathic form (16.22)
SUCLA2 (13q12.2-q13.3)
succinate-CoA ligase, ADP-forming, beta subunit

Miyoshi myopathy (4.1, 1.20)
DYSF (2p12-14)
dysferlin

Motor neuropathy, distal, with vocal cord paralysis (12.16)
? - (2q14)
Multiminicore disease, classical form (2.14, 5.3, 3.10, 3.21)
SEPN1 (1p36.13)
Selenoprotein N1

Multiple acyl-CoA dehydrogenase deficiency (9.18)
ETFA (15q23-q25)
electron-transfer-flavoprotein, alpha polypeptide

Multiple acyl-coa dehydrogenase deficiency (9.20, 9.24)
ETFDH (4q32-q35)
electron-transferring-flavoprotein dehydrogenase

Muscle hypertrophy (5.15)
GDF8 (2Q32)
myostatin, muscular hypertrophy

Muscle-eye-brain disease (2.8, 2.13, 1.32)
POMT2 (14q24.3)
protein-O-mannosyltransferase 2

Muscle-eye-brain disease (2.11, 2.10, 1.33)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase

Muscle-eye-brain disease (2.3, 1.27, 2.9, 2.12)
FKRP (19q13.33)
fukutin-related protein

Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8)
? - (19p13)
Muscular dystrophy, congenital merosin-deficient (2.1)
LAMA2 (6q22-q23)
laminin alpha 2 chain of merosin

Muscular dystrophy, congenital, 1C (2.3, 1.27, 2.9, 2.12)
FKRP (19q13.33)
fukutin-related protein

Muscular dystrophy, facioscapulohumeral (1.9)
DUX4 (4q35)
double homeobox 4

Muscular dystrophy, facioscapulohumeral, type 1A (1.9)
DUX4 (4q35)
double homeobox 4

Muscular dystrophy, Limb-Girdle, type 1A (1.11, 5.6, 5.7, 4.9)
MYOT (5q31)
myotilin

Muscular dystrophy, limb-girdle, type 1B (1.4, 1.12, 1.5, 10.26, 14.51)
LMNA (1q21.2-q21.3)
lamin A/C


Muscular dystrophy, Limb-Girdle, Type 1F (1.16)
? - (7q32)
Muscular dystrophy, limb-girdle, type 1G (1.17)
? - (4q21)
Muscular dystrophy, limb-girdle, type 2A (1.19)
CAPN3 (15q15.1-q21.1)
calpain 3

Muscular dystrophy, limb-girdle, type 2B (4.1, 1.20)
DYSF (2p12-14)
dysferlin

Muscular dystrophy, limb-girdle, type 2C (1.21)
SGCG (13q12)
gamma sarcoglycan

Muscular dystrophy, limb-girdle, type 2D (1.22)
SGCA (17q21)
alpha sarcoglycan

Muscular dystrophy, limb-girdle, type 2E (1.23)
SGCB (4q12)
beta sarcoglycan

Muscular dystrophy, limb-girdle, type 2F (1.24, 10.38)
SGCD (5q33-q34)
delta-sarcoglycan

Muscular dystrophy, limb-girdle, type 2G (1.25, 10.40, 2.26)
TCAP (17q12)
telethonin

Muscular dystrophy, limb-girdle, type 2H (1.26, 3.34)
TRIM32 (9q33.2)
Tripartite motif-containing 32

Muscular dystrophy, limb-girdle, type 2I (2.3, 1.27, 2.9, 2.12)
FKRP (19q13.33)
fukutin-related protein

Muscular dystrophy, Limb-Girdle, type 2K (2.7, 1.29)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1

Muscular dystrophy, limb-girdle, type 2L (1.30, 4.13)
ANO5 (11p14-12)
anoctamin 5

Muscular dystrophy, limb-girdle, type IC (1.13, 6.6, 5.17, 6.7, 4.11, 10.95, 10.16)
CAV3 (3p25)
caveolin 3

Muscular dystrophy, rigid spine, 1 (2.14, 5.3, 3.10, 3.21)
SEPN1 (1p36.13)
Selenoprotein N1

Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.35)
DAG1 (3p21)
Dystroglycan1 (dystrophin-associated glycoprotein 1)

Myastenia, Limb-Girdle, With tubular aggregates (11.16)
GFPT1 (2p12-p15)
glutamine-fructose-6-phosphate transaminase 1

Myasthenia gravis, autosomal recessive (11.12)
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia gravis, familial infantile (11.12)
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia gravis, familial infantile, 2 (11.12)
CHAT (10q11.2)
choline acetyltransferase isoform

Myasthenia, familial infantil, 1 (11.19)
? - (17q13)
Myasthenia, limb-girdle, familial (11.17)
AGRN (1p36.33)
Agrin

Myasthenic syndrome, congenital (11.11)
RAPSN (11p11.2-p11.1)
rapsyn

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.18)
LAMB2 (3p21)
laminin, beta 2 (laminin S)

Myasthenic syndrome, congenital, Ie, included (11.2, 11.8)
CHRNB1 (17p13.1)
cholinergic receptor, nicotinic, beta 1 muscle

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

Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
cholinergic receptor, nicotinic, epsilon

Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
cholinergic receptor, nicotinic, delta

Myasthenic syndrome, slow-channel congenital (11.2, 11.8)
CHRNB1 (17p13.1)
cholinergic receptor, nicotinic, beta 1 muscle

Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9)
CHRND (2q33-q34)
cholinergic receptor, nicotinic, delta

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

Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10)
CHRNE (17p13-p12)
cholinergic receptor, nicotinic, epsilon

Myasthenic syndrome, with plectin defect (5.14, 1.34, 11.22)
PLEC1 (8q24)
plectin 1, intermediate filament binding protein 500kDa

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

myofibrillar myopathy with bag3 defect (5.9)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3

myofibrillar myopathy ZASP-related (5.4, 10.29, 4.12)
LDB3 (10q22)
LIM domain binding 3

Myofibrillar myopathy, alpha-B crystallin related (5.1, 10.51)
CRYAB (11q22.3-q23.1)
crystallin, alpha B

Myofibrillar myopathy, desmin-related myopathy (5.2, 10.35)
DES (2q35)
desmin

Myofibrillar myopathy, myotilin related (1.11, 5.6, 5.7, 4.9)
MYOT (5q31)
myotilin

Myoglobinuria/hemolysis due to PGK deficiency (9.11)
PGK1 (Xq13)
phosphoglycerate kinase 1

Myopathy due to CPT II deficiency (9.15)
CPT2 (1p32)
carnitine palmitoyltransferase II

Myopathy due to phosphoglycerate mutase deficiency (9.12)
PGAM2 (7p13-p12)
phosphoglycerate mutase 2 (muscle)

myopathy with deficiency of succinate dehydrogenase and aconitase (5.23)
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

myopathy with exercise intolerance, swedish type (5.23)
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.26, 3.25)
MYH2 (17p13.1)
myosin, heavy polypeptide 2, skeletal muscle

myopathy with lactic acidosis, hereditary (5.23)
ICSU (12q24.1)
iron-sulfur cluster scaffold homolog (E. coli)

myopathy, congenital, with fiber-type disproportion (3.9, 3.3, 3.29)
ACTA1 (1q42.1)
alpha actin, skeletal muscle

myopathy, congenital, with fiber-type disproportion (2.14, 5.3, 3.10, 3.21)
SEPN1 (1p36.13)
Selenoprotein N1

myopathy, congenital, with fiber-type disproportion (4.4, 10.1, 3.23, 10.45, 3.24, 3.13)
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

myopathy, congenital, with fiber-type disproportion (3.18, 8.1, 3.19, 3.20, 3.30, 3.17, 3.12)
RYR1 (19q13.1)
ryanodine receptor 1 (skeletal)

Myopathy, distal 1 (4.4, 10.1, 3.23, 10.45, 3.24, 3.13)
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

Myopathy, distal 2 (4.5)
MATR3 (5q31)
matrin 3

Myopathy, distal, 4 (5.8, 4.16)
FLNC (7q32)
filamin C, gamma (actin-binding protein - 280)

Myopathy, myofibrillar, 2 (5.1, 10.51)
CRYAB (11q22.3-q23.1)
crystallin, alpha B

Myopathy, myofibrillar, filamin C-related (5.8, 4.16)
FLNC (7q32)
filamin C, gamma (actin-binding protein - 280)

Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.18, 5.19, 2.15, 5.20)
FHL1 (Xq26.3)
four and a half LIM domain 1

Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.18, 5.19, 2.15, 5.20)
FHL1 (Xq26.3)
four and a half LIM domain 1

Myopathy, X-linked, with excessive autophagy (5.11)
? - (Xq28)
myosclerosis, autosomal recessive (2.22, 2.17, 2.20, 2.23)
COL6A2 (21q22.3)
alpha 2 type VI collagen

Myosin storage myopathy (4.4, 10.1, 3.23, 10.45, 3.24, 3.13)
MYH7 (14q12)
myosin, heavy polypeptide 7, cardiac muscle, beta

Myosin, heavy chain, perinatal (16.15)
MYH8 (17p13)
Myosin heavy chain, 8, skeletal muscle, perinatal

Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2)
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)
CLCN1 (7q35)
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

Myotonia potassium-aggravatd (7.3, 7.5, 7.4, 7.6, 11.20)
SCN4A (17q23-q25.3)
sodium channel, voltage-gated, type IV, alpha

Myotonia recessive (7.1, 6.3, 6.4, 7.2)
CLCN1 (7q35)
chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)

Myotonic dystrophy 1 (6.1)
DMPK (19q13.3)
myotonic dystrophy protein kinase

Myotonic dystrophy, type 2 (6.2)
ZNF9 (3q21)
zinc finger protein 9

Myotubular myopathy, X-linked (3.14)
MTM1 (Xq28)
myotubularin

Myxomatous valvular dystrophy, X-ninked (10.71)
FLNA (Xq28)
filamin A, alpha (actin binding protein 280)