increased creatine kinase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine (Mammalian Phenotype Ontology, MP_0020280)
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19 gene mutations causing the increased creatine kinase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CAPN3 calpain 3, (p94)
CAV3 caveolin 3
COL4A1 collagen, type IV, alpha 1
DMD dystrophin
DYSF dysferlin
EPB41 erythrocyte membrane protein band 4.1
FKRP fukutin related protein
GHR growth hormone receptor
IGHMBP2 immunoglobulin mu binding protein 2
ITGA7 integrin, alpha 7
LARGE like-glycosyltransferase
MPV17 MpV17 mitochondrial inner membrane protein
NOS3 nitric oxide synthase 3 (endothelial cell)
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SYNC syncoilin, intermediate filament protein
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24