Phenotype: increased creatine kinase level

Definition
increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
Synonyms
increased MiMi-CK,  increased adenosine triphosphate-creatine transphosphorylase level,  increased CK-MB,  increased creatine phosphotransferase level,  increased BB-CK,  increased Mi-CK,  increased CK-MM,  increased MB-CK,  increased CK,  increased ATP:creatine phosphotransferase level,  increased ATP:creatine N-phosphotransferase level,  increased CK-BB,  increased phosphocreatine kinase level,  increased creatine phosphokinase level,  increased MM-CK,  increased CKMiMi
0%
of tested genes
0
significant genes
0
tested genes

IMPC Gene variants with increased creatine kinase level

Total number of significant genotype-phenotype associations: 7

Gene / Allele Zygosity Sex Life Stage Phenotype Procedure | Parameter Phenotyping Center | Source P Value
Mllt3
Mllt3tm1b(EUCOMM)Hmgu
HET Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase MRC Harwell | IMPC 7.97×10-08
Cd300ld2
Cd300ld2em1(IMPC)Wtsi
HOM Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase WTSI | IMPC 1.49×10-07
Sidt2
Sidt2em1(IMPC)Wtsi
HOM Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase WTSI | IMPC 2.38×10-05
Epc1
Epc1tm1e(EUCOMM)Wtsi
HET Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase WTSI | EuroPhenome 5.16×10-05
Lrrk1
Lrrk1tm1b(KOMP)Wtsi
HOM Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase MRC Harwell | IMPC 5.66×10-05
Adcy3
Adcy3tm1a(EUCOMM)Wtsi
HET Early adult increased circulating creatine kinase level Clinical Chemistry | Creatine kinase WTSI | IMPC 8.80×10-05

Download data as:   TSV   XLS

 The way we measure

 Phenotype associations stats

100.00% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased creatine kinase level (6/6)

50.00% females (3/6) 50.00% males (3/6)



The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter