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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
Significant gene associations The way we measure Phenotype stats
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: 45

Gene / Allele Zygosity Sex Life Stage Phenotype Parameter Phenotyping
Center		 P Value
Adcy1
Adcy1tm1b(EUCOMM)Wtsi 		HOM Late adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 0.00
Barx2
Barx2tm1b(EUCOMM)Hmgu 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 4.99×10-33
C1qtnf3
C1qtnf3tm2b(EUCOMM)Wtsi 		HOM Late adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 6.57×10-15
Cul9
Cul9em1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 3.70×10-14
Cst6
Cst6em1(IMPC)Ccpcz 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 5.37×10-12
Lrrk1
Lrrk1tm1b(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 7.62×10-12
Sbsn
Sbsnem1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 4.93×10-11
Tcf7l1
Tcf7l1tm1a(EUCOMM)Wtsi 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
MGP		 6.38×10-11
Ints12
Ints12tm1a(EUCOMM)Wtsi 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 7.81×10-11
Rnf168
Rnf168em1(IMPC)H 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 1.28×10-10
Pitpnc1
Pitpnc1em1(IMPC)Kmpc 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 KMPC
IMPC		 2.04×10-10
Slc28a3
Slc28a3em1(IMPC)H 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 2.17×10-09
Kat14
Kat14tm1a(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 4.63×10-09
Lrig3
Lrig3em1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 1.02×10-08
Fcrl2
Fcrl2em1(IMPC)H 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 2.14×10-08
Sirt3
Sirt3tm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 1.55×10-07
Ppp2r2b
Ppp2r2btm1a(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
MGP		 5.09×10-07
Birc6
Birc6em1(IMPC)Ccpcz 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 5.84×10-07
Spns2
Spns2tm1a(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 1.68×10-06
Ascl5
Ascl5em1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 2.83×10-06
Tcf20
Tcf20em1(IMPC)Wtsi 		HOM   Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
IMPC		 3.26×10-06
S100b
S100btm1a(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
MGP		 3.65×10-06
Sptbn2
Sptbn2tm1b(EUCOMM)Hmgu 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 4.33×10-06
Mks1
Mks1tm1a(EUCOMM)Wtsi 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 4.40×10-06
Sparc
Sparctm1a(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 5.99×10-06
Trpm1
Trpm1tm1b(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 1.16×10-05
Slc38a7
Slc38a7em1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 1.82×10-05
Stmn2
Stmn2em1(IMPC)Kmpc 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 KMPC
IMPC		 2.24×10-05
Agl
Agltm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 2.59×10-05
Mxra7
Mxra7tm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 2.96×10-05
Ubxn10
Ubxn10tm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
IMPC		 3.47×10-05
Adcy1
Adcy1tm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 3.50×10-05
Cd300ld2
Cd300ld2em1(IMPC)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
IMPC		 3.68×10-05
Ptprm
Ptprmem1(IMPC)Rbrc 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 RBRC
IMPC		 4.12×10-05
Pdia4
Pdia4tm1b(EUCOMM)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
IMPC		 4.20×10-05
Niban1
Niban1em1(IMPC)Ccpcz 		HOM   Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 4.73×10-05
Itgb6
Itgb6em1(IMPC)Ccpcz 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 CCP-IMG
IMPC		 5.97×10-05
Prkaa2
Prkaa2tm1b(EUCOMM)Hmgu 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 7.07×10-05
Tpm1
Tpm1tm1a(EUCOMM)Wtsi 		HET Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
EuroPhenome		 7.31×10-05
Trub1
Trub1tm1b(EUCOMM)Hmgu 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 MRC Harwell
IMPC		 7.71×10-05
Irf6
Irf6em1(IMPC)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 WTSI
IMPC		 7.91×10-05
Ap4e1
Ap4e1tm1b(KOMP)Wtsi 		HOM Early adult increased circulating creatine kinase level Creatine kinase
Clinical Chemistry		 RBRC
IMPC		 8.50×10-05

Download data as:   TSV   XLS

 The way we measure

Procedure
Clinical Blood Chemistry
Clinical Chemistry
Fasted Bleed
Terminal Bleed

 Phenotype associations stats

1.61% of tested genes with null mutations on a B6N genetic background have a phenotype association to increased creatine kinase level (41/2547)

0.91% females (23/2524) 0.75% males (19/2518)

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