abnormal circulating creatine kinase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine (Mammalian Phenotype Ontology, MP_0010089)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010089
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Genes

23 gene mutations causing the abnormal circulating 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