Definition
a reduction in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
Synonyms
decreased circulating creatine phosphokinase level,
reduced circulating creatinine kinase level,
reduced circulating creatine phosphokinase level,
decreased circulating phospho-creatine kinase level,
decreased circulating CPK level,
reduced circulating CPK level,
reduced circulating creatine kinase level,
reduced circulating phospho-creatine kinase level,
decreased circulating creatinine kinase level,
decreased circulating CK level,
reduced circulating CK level
0%
of tested genes
0
significant genes
0
tested genes
IMPC Gene variants with decreased circulating creatine kinase level
Total number of significant genotype-phenotype associations: 3
| Gene / Allele | Zygosity | Sex | Life Stage | Phenotype | Parameter | Phenotyping Center |
P Value |
|---|---|---|---|---|---|---|---|
| Fcgr3 Fcgr3tm1b(EUCOMM)Hmgu |
HOM | Late adult | decreased circulating creatine kinase level | Creatine kinase Clinical Chemistry |
MRC Harwell IMPC |
7.04×10-11 | |
| Trp53 Trp53tm1b(EUCOMM)Hmgu |
HET | Early adult | decreased circulating creatine kinase level | Creatine kinase Clinical Chemistry |
MRC Harwell IMPC |
5.41×10-05 |