MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: increased circulating creatine kinase level
Accession: MP:0010090
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Definition: an elevation in the concentration in the blood of an enzyme that catalyzes the reversible transfer of creatine to phosphocreatine
Comment: There is ambiguity in the literature regarding the terms creatinine kinase and creatine kinase. Most resources insist that creatine kinase is correct. See PMID:17174558 and PMID:14624200 not to mention Wikipedia. Creatine kinase is an enzyme found in the heart, brain, skeletal muscle, and other tissues. Increased amounts of CK are released into the blood when there is muscle damage. The small amount of CK that is normally in the blood comes primarily from skeletal muscles.
Synonyms: exact_synonym: elevated circulating CK level; elevated circulating CPK level; elevated circulating creatine kinase level; elevated circulating creatine phosphokinase level; elevated circulating creatinine kinase level; elevated circulating phospho-creatine kinase level; increased circulating CK level; increased circulating CPK level; increased circulating creatine phosphokinase level; increased circulating creatinine kinase level; increased circulating phospho-creatine kinase level
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Adcy1
adenylate cyclase 1
IEA
MGI
NCBI chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506
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Agl
amylo-1,6-glucosidase, 4-alpha-glucanotransferase
IAGP
MGI
PMID:24613482 PMID:25092169
NCBI chr 3:116,533,648...116,601,815
Ensembl chr 3:116,533,648...116,601,815
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Ano5
anoctamin 5
IAGP
MGI
PMID:26911675 PMID:30712070
NCBI chr 7:51,160,668...51,248,455
Ensembl chr 7:51,160,777...51,248,457
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Ap4e1
adaptor-related protein complex AP-4, epsilon 1
IEA
MGI
NCBI chr 2:126,850,600...126,911,734
Ensembl chr 2:126,850,637...126,909,829
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Asah1
N-acylsphingosine amidohydrolase 1
IAGP
MGI
PMID:29908121
NCBI chr 8:41,793,683...41,850,681
Ensembl chr 8:41,793,234...41,827,810
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Barx2
BarH-like homeobox 2
IEA
MGI
NCBI chr 9:31,757,340...31,824,581
Ensembl chr 9:31,757,340...31,824,758
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Bbs4
Bardet-Biedl syndrome 4 (human)
IAGP
MGI
PMID:16794820
NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791
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Birc6
baculoviral IAP repeat-containing 6
IEA
MGI
NCBI chr17:74,835,247...75,010,351
Ensembl chr17:74,835,290...75,010,351
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C1qtnf3
C1q and tumor necrosis factor related protein 3
IEA
MGI
NCBI chr15:10,952,418...10,980,248
Ensembl chr15:10,952,418...10,980,236
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Capn3
calpain 3
IAGP
MGI
PMID:20592470
NCBI chr 2:120,294,074...120,335,400
Ensembl chr 2:120,294,053...120,335,399
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Cav3
caveolin 3
IAGP
MGI
PMID:11259414
NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833
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Cd300ld2
CD300 molecule like family member D2
IEA
MGI
NCBI chr11:114,901,146...114,907,657
Ensembl chr11:114,901,161...114,907,019
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Col4a1
collagen, type IV, alpha 1
IAGP
MGI
PMID:21625620
NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826
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Crppa
CDP-L-ribitol pyrophosphorylase A
IAGP
MGI
PMID:35422047
NCBI chr12:36,430,334...36,739,502
Ensembl chr12:36,431,449...36,739,502
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Ctss
cathepsin S
IAGP
MGI
PMID:26966179
NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714
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Cul9
cullin 9
IEA
MGI
NCBI chr17:46,811,535...46,857,314
Ensembl chr17:46,811,498...46,857,314
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Dag1
dystroglycan 1
IAGP
MGI
PMID:12230980 PMID:22810924
NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157
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Dhtkd1
dehydrogenase E1 and transketolase domain containing 1
IAGP
MGI
PMID:29661920
NCBI chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603
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Dmd
dystrophin, muscular dystrophy
IAGP
MGI
PMID:2967442 PMID:6583703 PMID:8064326 PMID:21145579 PMID:22810924 PMID:26365037 PMID:26566673 PMID:26966179 PMID:30854433 PMID:31028078 More...
NCBI chr X:81,858,244...84,248,656
Ensembl chr X:81,992,476...84,249,747
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Dysf
dysferlin
IAGP
MGI
PMID:12736685 PMID:21060153
NCBI chr 6:83,985,344...84,188,042
Ensembl chr 6:83,985,572...84,188,042
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Epb41
erythrocyte membrane protein band 4.1
IAGP
MGI
PMID:9927493
NCBI chr 4:131,650,724...131,802,824
Ensembl chr 4:131,650,724...131,802,632
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Epc1
enhancer of polycomb homolog 1
IEA
MGI
NCBI chr18:6,435,951...6,516,108
Ensembl chr18:6,435,951...6,516,108
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Fkrp
fukutin related protein
IAGP
MGI
PMID:20675713
NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657
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Fktn
fukutin
IAGP
MGI
PMID:22922256 PMID:23562821
NCBI chr 4:53,713,745...53,765,785
Ensembl chr 4:53,713,998...53,777,890
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Gbe1
glucan (1,4-alpha-), branching enzyme 1
IAGP
MGI
PMID:26385640
NCBI chr16:70,110,837...70,366,608
Ensembl chr16:70,110,837...70,366,604
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Ghr
growth hormone receptor
IAGP
MGI
PMID:15138153
NCBI chr15:3,347,237...3,612,834
Ensembl chr15:3,347,242...3,612,974
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Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
IAGP
MGI
PMID:17164266
NCBI chr 4:44,034,075...44,084,177
Ensembl chr 4:44,034,075...44,084,177
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:31469588 PMID:31833196
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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Hif1a
hypoxia inducible factor 1, alpha subunit
IAGP
MGI
PMID:15328538
NCBI chr12:73,948,098...73,994,328
Ensembl chr12:73,948,149...73,994,304
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Hspb7
heat shock protein family, member 7 (cardiovascular)
IAGP
MGI
PMID:26929074
NCBI chr 4:141,148,090...141,152,621
Ensembl chr 4:141,148,090...141,152,622
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Ighmbp2
immunoglobulin mu DNA binding protein 2
IAGP
MGI
PMID:15069027
NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017
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Irf6
interferon regulatory factor 6
IEA
MGI
NCBI chr 1:192,835,420...192,854,344
Ensembl chr 1:192,835,419...192,854,331
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Itga7
integrin alpha 7
IAGP
MGI
PMID:9354797
NCBI chr10:128,769,633...128,794,155
Ensembl chr10:128,769,645...128,794,155
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Large1
LARGE xylosyl- and glucuronyltransferase 1
IAGP
MGI
PMID:7602333
NCBI chr 8:73,541,226...74,080,279
Ensembl chr 8:73,541,227...74,080,168
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Lmna
lamin A
IAGP
MGI
PMID:21818413
NCBI chr 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263
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Lrrk1
leucine-rich repeat kinase 1
IEA
MGI
NCBI chr 7:65,908,493...66,038,089
Ensembl chr 7:65,876,660...66,038,098
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Mpv17
MpV17 mitochondrial inner membrane protein
IAGP
MGI
PMID:18818194
NCBI chr 5:31,298,007...31,311,595
Ensembl chr 5:31,297,998...31,311,595
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Mxra7
matrix-remodelling associated 7
IEA
MGI
NCBI chr11:116,694,226...116,718,953
Ensembl chr11:116,693,888...116,718,872
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Myf5
myogenic factor 5
IAGP
MGI
PMID:22922256 PMID:23562821 PMID:35422047
NCBI chr10:107,318,769...107,322,787
Ensembl chr10:107,318,769...107,321,995
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Nos3
nitric oxide synthase 3, endothelial cell
IAGP
MGI
PMID:19036847
NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472
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Pdia4
protein disulfide isomerase associated 4
IEA
MGI
NCBI chr 6:47,773,075...47,790,446
Ensembl chr 6:47,773,075...47,790,364
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Pik3r4
phosphoinositide-3-kinase regulatory subunit 4
IAGP
MGI
PMID:23630012
NCBI chr 9:105,520,156...105,564,854
Ensembl chr 9:105,520,177...105,564,856
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Prkaa2
protein kinase, AMP-activated, alpha 2 catalytic subunit
IEA
MGI
NCBI chr 4:104,886,846...104,967,095
Ensembl chr 4:104,887,071...104,967,087
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Ptprm
protein tyrosine phosphatase, receptor type, M
IEA
MGI
NCBI chr17:66,973,843...67,661,486
Ensembl chr17:66,973,942...67,661,452
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Rnf168
ring finger protein 168
IEA
MGI
NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252
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Rnf208
ring finger protein 208
IEA
MGI
NCBI chr 2:25,132,941...25,134,273
Ensembl chr 2:25,132,941...25,134,274
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Rps2
ribosomal protein S2
IAGP
MGI
PMID:34103648
NCBI chr17:24,939,037...24,940,901
Ensembl chr17:24,937,090...24,940,903
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Sbsn
suprabasin
IEA
MGI
NCBI chr 7:30,432,099...30,455,559
Ensembl chr 7:30,450,896...30,455,559
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Sdhc
succinate dehydrogenase complex, subunit C, integral membrane protein
IAGP
MGI
PMID:31469588
NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172
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Sgca
sarcoglycan, alpha (dystrophin-associated glycoprotein)
IAGP
MGI
PMID:9744877 PMID:18252746 PMID:28797108
NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153
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Sgcd
sarcoglycan, delta (dystrophin-associated glycoprotein)
IAGP
MGI
PMID:10862711 PMID:28797108
NCBI chr11:46,861,904...47,880,309
Ensembl chr11:46,787,080...47,879,796
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Sgcg
sarcoglycan, gamma (dystrophin-associated glycoprotein)
IAGP
MGI
PMID:9732288 PMID:10485893 PMID:12609501
NCBI chr14:61,456,555...61,495,939
Ensembl chr14:61,456,564...61,495,939
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Sirt3
sirtuin 3
IEA
MGI
NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222
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Slc28a3
solute carrier family 28 (sodium-coupled nucleoside transporter), member 3
IEA
MGI
NCBI chr13:58,701,121...58,758,691
Ensembl chr13:58,693,213...58,758,691
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Smn1
survival motor neuron 1
IAGP
MGI
PMID:11238465
NCBI chr13:100,259,713...100,274,206
Ensembl chr13:100,261,360...100,274,198
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Sptbn2
spectrin beta, non-erythrocytic 2
IEA
MGI
NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
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Sync
syncoilin
IAGP
MGI
PMID:18594912
NCBI chr 4:129,181,066...129,203,175
Ensembl chr 4:129,181,410...129,202,352
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Tcf20
transcription factor 20
IEA
MGI
NCBI chr15:82,692,648...82,872,304
Ensembl chr15:82,692,637...82,872,073
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Terc
telomerase RNA component
IAGP
MGI
PMID:21145579
NCBI chr 3:96,321,753...96,322,149
Ensembl chr 3:96,321,753...96,322,149
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Trpm1
transient receptor potential cation channel, subfamily M, member 1
IEA
MGI
NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523
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Trub1
TruB pseudouridine (psi) synthase family member 1
IEA
MGI
NCBI chr19:57,441,323...57,479,437
Ensembl chr19:57,441,344...57,479,437
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Tyro3
TYRO3 protein tyrosine kinase 3
IEA
MGI
NCBI chr 2:119,628,221...119,648,585
Ensembl chr 2:119,628,214...119,648,585
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Ubxn10
UBX domain protein 10
IEA
MGI
NCBI chr 4:138,437,148...138,465,749
Ensembl chr 4:138,437,148...138,464,478
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Zdhhc13
zinc finger, DHHC domain containing 13
IAGP
MGI
PMID:20548961
NCBI chr 7:48,438,751...48,477,188
Ensembl chr 7:48,438,751...48,477,188
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Zmpste24
zinc metallopeptidase, STE24
IAGP
MGI
PMID:11923874
NCBI chr 4:120,916,434...120,955,452
Ensembl chr 4:120,916,434...120,955,438
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