impaired skeletal muscle contractility Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description inability or reduced ability of the skeletal muscle to shorten or to develop increased tension (Mammalian Phenotype Ontology, MP_0002841)
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33 gene mutations causing the impaired skeletal muscle contractility phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CACNB1 calcium channel, voltage-dependent, beta 1 subunit
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CISD2 CDGSH iron sulfur domain 2
CKM creatine kinase, muscle
CLCN1 chloride channel, voltage-sensitive 1
COL6A1 collagen, type VI, alpha 1
COL6A3 collagen, type VI, alpha 3
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DST dystonin
FOXJ3 forkhead box J3
JPH1 junctophilin 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KY kyphoscoliosis peptidase
MSTN myostatin
MTMR14 myotubularin related protein 14
MYH1 myosin, heavy chain 1, skeletal muscle, adult
MYH4 myosin, heavy chain 4, skeletal muscle
MYLK2 myosin light chain kinase 2
NOS1 nitric oxide synthase 1 (neuronal)
PDK2 pyruvate dehydrogenase kinase, isozyme 2
RYR1 ryanodine receptor 1 (skeletal)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SRL sarcalumenin
SYNC syncoilin, intermediate filament protein
SYPL2 synaptophysin-like 2
TRIM72 tripartite motif containing 72, E3 ubiquitin protein ligase
TTN titin