myopathy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (Human Disease Ontology, DOID_423)
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37 gene mutations causing the myopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGRN agrin
AR androgen receptor
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAV3 caveolin 3
COL13A1 collagen, type XIII, alpha 1
COL15A1 collagen, type XV, alpha 1
COL4A1 collagen, type IV, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
COQ9 coenzyme Q9
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
GAA glucosidase, alpha; acid
ITGA7 integrin, alpha 7
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
MTM1 myotubularin 1
NOTCH3 notch 3
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PLAU plasminogen activator, urokinase
PLEC plectin
RYR1 ryanodine receptor 1 (skeletal)
SAMD4A sterile alpha motif domain containing 4A
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
STMN1 stathmin 1
TCAP titin-cap
TPP1 tripeptidyl peptidase I
TRIM32 tripartite motif containing 32
VCP valosin containing protein