abnormal creatine kinase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine (Mammalian Phenotype Ontology, MP_0020279)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0020279
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Genes

23 gene mutations causing the abnormal 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
DFNB31 deafness, autosomal recessive 31
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
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NOS3 nitric oxide synthase 3 (endothelial cell)
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
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
TCEAL5 transcription elongation factor A (SII)-like 5
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24