H-CK
MCID: ISL151
MIFTS: 41

Isolated Elevated Serum Creatine Phosphokinase Levels (H-CK)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Isolated Elevated Serum Creatine Phosphokinase Levels

MalaCards integrated aliases for Isolated Elevated Serum Creatine Phosphokinase Levels:

Name: Isolated Elevated Serum Creatine Phosphokinase Levels 12 15
Elevated Serum Creatine Phosphokinase 25 29 6
Idiopathic Hyperckemia 12 25 36
Isolated Hyperckemia 12 25
Elevated Serum Cpk 12 25
Idiopathic Persistent Elevation of Serum Creatine Kinase 25
H-Ck 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0111338
KEGG 36 H02181

Summaries for Isolated Elevated Serum Creatine Phosphokinase Levels

KEGG : 36 Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.

MalaCards based summary : Isolated Elevated Serum Creatine Phosphokinase Levels, also known as elevated serum creatine phosphokinase, is related to rippling muscle disease 2 and creatine phosphokinase, elevated serum. An important gene associated with Isolated Elevated Serum Creatine Phosphokinase Levels is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. The drugs Caffeine and Halothane have been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and kidney, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has material basis in in some cases in heterozygous mutation in CAV3 on chromosome 3p25.3.

Genetics Home Reference : 25 Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.

Related Diseases for Isolated Elevated Serum Creatine Phosphokinase Levels

Diseases related to Isolated Elevated Serum Creatine Phosphokinase Levels via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 133)
# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 32.9 FKRP DYSF CAV3
2 creatine phosphokinase, elevated serum 32.6 TCAP PIK3C2A MB LAMA2 GDAP1 GAA
3 neuroleptic malignant syndrome 31.0 RYR1 PIK3C2A MB
4 mcleod syndrome 30.9 VPS13A DMD
5 muscular dystrophy, duchenne type 30.9 TCAP PIK3C2A MB LAMA2 DMD CAV3
6 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.7 PIK3C2A MB
7 muscular dystrophy, becker type 30.5 PIK3C2A MYOT LAMA2 FKRP DYSF DMD
8 limb-girdle muscular dystrophy 30.4 TCAP MYOT LAMA2 FKRP DYSF DMD
9 malignant hyperthermia 30.3 SELENON RYR1 PYGM PIK3C2A MB LAMA2
10 autosomal recessive limb-girdle muscular dystrophy 30.1 TCAP MYOT LAMA2 FKRP DYSF DMD
11 muscular dystrophy 29.6 TCAP SELENON RYR1 PYGM PIK3C2A MYOT
12 neuromuscular disease 29.6 TCAP RYR1 MYOT MB LAMA2 GDAP1
13 myopathy 29.2 VPS13A TCAP SELENON RYR1 PYGM PIK3C2A
14 localized lipodystrophy 10.7 DYSF DMD
15 paresthesia 10.6 FKRP CAPN3
16 lysosomal glycogen storage disease 10.6 MB GAA
17 virus associated hemophagocytic syndrome 10.6 PIK3C2A MB
18 progressive muscular dystrophy 10.6 MB DMD
19 anterior compartment syndrome 10.6 MB DYSF
20 autosomal dominant distal myopathy 10.6 MYOT DMD
21 polyglucosan body myopathy 1 with or without immunodeficiency 10.6 FKRP DMD CAPN3
22 muscular dystrophy, limb-girdle, type 1h 10.6 MYOT CAV3
23 cardiomyopathy, dilated, 3b 10.6 DYSF DMD CAV3
24 dysferlinopathy 10.6 DYSF CAPN3
25 miyoshi muscular dystrophy 3 10.6 DYSF CAPN3 ANO5
26 congenital muscular dystrophy-dystroglycanopathy type a10 10.6 SELENON LAMA2
27 epidemic pleurodynia 10.6 PIK3C2A MB
28 congenital muscular dystrophy-dystroglycanopathy a14 10.6 SELENON LAMA2
29 muscular dystrophy, limb-girdle, autosomal dominant 3 10.6 MYOT CAV3 ANO5
30 metabolic myopathy 10.6 MB AMPD1
31 muscular dystrophy-dystroglycanopathy , type a, 1 10.6 LAMA2 FKRP DMD
32 myoglobinuria, recurrent 10.6 PYGM DMD
33 multiminicore disease 10.6 SELENON RYR1
34 anteroseptal myocardial infarction 10.6 PIK3C2A MB
35 congenital muscular dystrophy-dystroglycanopathy type a 10.6 LAMA2 FKRP DMD
36 muscular dystrophy-dystroglycanopathy , type a, 4 10.6 LAMA2 FKRP DMD
37 muscular dystrophy, congenital, 1b 10.6 LAMA2 FKRP
38 myopathy, myofibrillar, 9, with early respiratory failure 10.6 TCAP MYOT CAPN3
39 gas gangrene 10.6 PIK3C2A MB DMD
40 autosomal recessive limb-girdle muscular dystrophy type 2w 10.6 MYOT ANO5
41 pyomyositis 10.5 PIK3C2A MB
42 muscular dystrophy-dystroglycanopathy 10.5 LAMA2 FKRP DYSF DMD
43 scapuloperoneal syndrome, neurogenic, kaeser type 10.5 SELENON MYOT
44 myopathy, myofibrillar, 2 10.5 SELENON MYOT DMD
45 muscular dystrophy, limb-girdle, autosomal recessive 8 10.5 TCAP FKRP DYSF CAPN3
46 autosomal recessive limb-girdle muscular dystrophy type 2x 10.5 MYOT DYSF CAV3 ANO5
47 muscular dystrophy-dystroglycanopathy , type c, 9 10.5 MYOT DYSF
48 bone structure disease 10.5 SELENON RYR1 DMD
49 autosomal recessive limb-girdle muscular dystrophy type 2q 10.5 TCAP MYOT DYSF ANO5
50 glycogen storage disease 10.5 PYGM MB GAA DMD

Graphical network of the top 20 diseases related to Isolated Elevated Serum Creatine Phosphokinase Levels:



Diseases related to Isolated Elevated Serum Creatine Phosphokinase Levels

Symptoms & Phenotypes for Isolated Elevated Serum Creatine Phosphokinase Levels

GenomeRNAi Phenotypes related to Isolated Elevated Serum Creatine Phosphokinase Levels according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.78 CAPN3 PIK3C2A
2 Decreased viability GR00055-A-2 9.78 CAPN3 PIK3C2A
3 Decreased viability GR00055-A-3 9.78 CAPN3 PIK3C2A
4 Decreased viability GR00221-A-1 9.78 PIK3C2A
5 Decreased viability GR00221-A-2 9.78 PIK3C2A
6 Decreased viability GR00221-A-4 9.78 DYSF PIK3C2A
7 Decreased viability GR00240-S-1 9.78 PIK3C2A TCAP
8 Decreased viability GR00249-S 9.78 AMPD1 PIK3C2A PYGM RYR1 TCAP
9 Decreased viability GR00301-A 9.78 DYSF
10 Decreased viability GR00342-S-1 9.78 PIK3C2A
11 Decreased viability GR00342-S-2 9.78 PIK3C2A
12 Decreased viability GR00342-S-3 9.78 PIK3C2A
13 Decreased viability GR00381-A-1 9.78 FKRP LAMA2
14 Decreased viability GR00386-A-1 9.78 MB VPS13A
15 Decreased viability GR00402-S-2 9.78 DMD SELENON TCAP VPS13A

MGI Mouse Phenotypes related to Isolated Elevated Serum Creatine Phosphokinase Levels:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ANO5 CAV2 DMD DYSF FKRP GAA
2 cardiovascular system MP:0005385 10.03 CAPN3 CAV2 CAV3 DMD FKRP GAA
3 cellular MP:0005384 10 ANO5 CAV2 CAV3 DMD FKRP GAA
4 homeostasis/metabolism MP:0005376 9.91 AMPD1 ANO5 CAPN3 CAV2 CAV3 DMD
5 muscle MP:0005369 9.53 AMPD1 ANO5 CAPN3 CAV2 CAV3 DMD

Drugs & Therapeutics for Isolated Elevated Serum Creatine Phosphokinase Levels

Drugs for Isolated Elevated Serum Creatine Phosphokinase Levels (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeine Approved 58-08-2 2519
2
Halothane Approved, Vet_approved 151-67-7 3562
3 Immunoglobulins
4 Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Population at Risk of Malignant Hyperthermia: Ambispective Cohort. Recruiting NCT04287556

Search NIH Clinical Center for Isolated Elevated Serum Creatine Phosphokinase Levels

Genetic Tests for Isolated Elevated Serum Creatine Phosphokinase Levels

Genetic tests related to Isolated Elevated Serum Creatine Phosphokinase Levels:

# Genetic test Affiliating Genes
1 Elevated Serum Creatine Phosphokinase 29 CAV3

Anatomical Context for Isolated Elevated Serum Creatine Phosphokinase Levels

MalaCards organs/tissues related to Isolated Elevated Serum Creatine Phosphokinase Levels:

40
Testes, Skeletal Muscle, Kidney

Publications for Isolated Elevated Serum Creatine Phosphokinase Levels

Articles related to Isolated Elevated Serum Creatine Phosphokinase Levels:

(show all 33)
# Title Authors PMID Year
1
Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. 61
30900170 2019
2
[Case report: idiopathic hyperCKemia during pregnancy]. 61
30897887 2019
3
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
4
Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia. 61
29382405 2018
5
Idiopathic hyperCKemia and malignant hyperthermia susceptibility. 61
28952030 2017
6
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 61
28433475 2017
7
A Case of Asymptomatic Inclusion Body Myositis. 61
28221303 2017
8
Asymptomatic hyperCKemia during a two-year monitoring period: A case report and literature overview. 61
28123712 2017
9
[A case of chronic myopathy associated with an antibody to signal recognition particle (SRP) following long-term asymptomatic hypercreatinekinasemia]. 61
25904255 2015
10
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 61
24468540 2014
11
Single-fiber electromyography in hyperCKemia: the value of fiber density. 61
22068218 2012
12
Variation of serum creatine kinase (CK) levels and prevalence of persistent hyperCKemia in a Norwegian normal population. The Tromsø Study. 61
21592795 2011
13
Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant. 61
21343608 2011
14
Malignant Hyperthermia and Idiopathic HyperCKemia. 61
22162697 2011
15
Restless legs syndrome with periodic limb movements: a possible cause of idiopathic hyperCKemia. 61
19704085 2009
16
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases. 61
19353846 2009
17
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia. 61
18813041 2008
18
Duchenne muscular dystrophy and idiopathic hyperCKemia in the same family. 61
18833644 2008
19
Hypertension risk in idiopathic hyperCKemia. 61
18204808 2008
20
Familial idiopathic hyper-CK-emia: an underrecognized condition. 61
16502425 2006
21
Early clinical heterogeneity in choreoacanthocytosis. 61
15824261 2005
22
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels. 61
11993531 2002
23
Normalization of creatine kinase level during pregnancy in idiopathic hyperCKemia. 61
11532557 2001
24
Creatine kinase revisited. 61
19078624 2001
25
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 61
10746614 2000
26
HyperCKemia as the only sign of McArdle's disease in a child. 61
10695902 2000
27
Idiopathic hyperCKemia revisited. 61
9660505 1998
28
Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels. 61
9141928 1997
29
Duchenne muscular dystrophy and idiopathic hyperCKemia in a family causing confusion in genetic counselling. 61
8958338 1996
30
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. 61
8533818 1995
31
[A case report of idiopathic hypokalemic periodic paralysis and idiopathic hyperCKemia with hypogammaglobulinemia in two brothers]. 61
3665260 1987
32
[A case of idiopathic hyperCKemia with CK-linked immunoglobulin (IgA-lambda)]. 61
3103965 1986
33
Idiopathic hyperCKemia. 61
6538316 1984

Variations for Isolated Elevated Serum Creatine Phosphokinase Levels

ClinVar genetic disease variations for Isolated Elevated Serum Creatine Phosphokinase Levels:

6 (show all 36) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCAP NM_003673.4(TCAP):c.90_91del (p.Ser31fs)deletion Pathogenic 446463 rs1555606976 17:37821701-37821702 17:39665448-39665449
2 DMD NM_004006.2(DMD):c.93+1G>CSNV Pathogenic 523470 rs886042604 X:33038255-33038255 X:33020138-33020138
3 subset of 18 genes: HNF1B GRCh37/hg19 17q12(chr17:34611352-36248918)copy number gain Pathogenic 523265 17:34611352-36248918
4 GAA NM_000152.5(GAA):c.4G>T (p.Gly2Ter)SNV Pathogenic 560377 rs1567825175 17:78078389-78078389 17:80104590-80104590
5 GDAP1 NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)SNV Pathogenic 4200 rs104894080 8:75276240-75276240 8:74364005-74364005
6 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln)SNV Pathogenic 8283 rs116840778 3:8775642-8775642 3:8733956-8733956
7 CAV3 NM_033337.2(CAV3):c.136G>A (p.Ala46Thr)SNV Pathogenic 8281 rs116840789 3:8787233-8787233 3:8745547-8745547
8 CAV3 NM_033337.2(CAV3):c.86C>T (p.Pro29Leu)SNV Pathogenic 8287 rs116840786 3:8775648-8775648 3:8733962-8733962
9 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
10 LAMA2 NM_000426.3(LAMA2):c.6955C>T (p.Arg2319Ter)SNV Pathogenic 92980 rs398123383 6:129781432-129781432 6:129460287-129460287
11 ASTN2 , TRIM32 NM_001365068.1(ASTN2):c.2806+26663TA[4]short repeat Pathogenic 291311 rs886044913 9:119461381-119461382 9:116699102-116699103
12 DMD NM_004006.3(DMD):c.6139C>T (p.Gln2047Ter)SNV Pathogenic 369655 rs1057516028 X:32305797-32305797 X:32287680-32287680
13 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
14 ANO5 NM_213599.3(ANO5):c.758A>C (p.His253Pro)SNV Likely pathogenic 291313 rs886044915 11:22257818-22257818 11:22236272-22236272
15 DMD NM_004006.3(DMD):c.9527A>G (p.Asp3176Gly)SNV Likely pathogenic 291316 rs886044916 X:31227651-31227651 X:31209534-31209534
16 DMD NM_004013.2(DMD):c.-62dupduplication Likely pathogenic 523469 rs1556880327 X:31792299-31792300 X:31774182-31774183
17 subset of 273 genes: AR , ARHGEF9 , BCOR , CASK , CLCN5 , CYBB , DDX3X , DLG3 , DMD , EBP , EDA , EFNB1 , FGD1 , FTSJ1 , HDAC8 , IQSEC2 , KDM5C , KDM6A , MAOA , NDP , NEXMIF , NYX , OPHN1 , OTC , PHF8 , PORCN , PQBP1 , RP2 , SLC16A2 , SLC35A2 , SMC1A , SYN1 , SYP , TSPAN7 , USP9X , WDR45 , XIST , ZC4H2 , ZNF41 , ZNF674 46,Y,inv(X)(p21.1q13.3)inversion Likely pathogenic 694513 X:32196272-75245806
18 GMPPB NM_021971.4(GMPPB):c.358A>G (p.Met120Val)SNV Likely pathogenic 560362 rs1559697515 3:49760449-49760449 3:49723016-49723016
19 DMD NM_004006.3(DMD):c.650-39498A>GSNV Likely pathogenic 446469 rs1556980528 X:32756908-32756908 X:32738791-32738791
20 ANO5 NM_213599.3(ANO5):c.364-2A>GSNV Likely pathogenic 446472 rs776474397 11:22248846-22248846 11:22227300-22227300
21 DMD NM_004006.3(DMD):c.10211del (p.Asp3404fs)deletion Likely pathogenic 427762 rs1114167437 X:31196798-31196798 X:31178681-31178681
22 DMD NM_000109.4(DMD):c.4047+1deldeletion Likely pathogenic 427765 rs1114167439 X:32456357-32456357 X:32438240-32438240
23 PKD1 NM_001009944.3(PKD1):c.7567_7569GAG[1] (p.Glu2524del)short repeat Likely pathogenic 523389 rs1555452876 16:2156223-2156225 16:2106222-2106224
24 LAMA2 NM_000426.3(LAMA2):c.2450+16A>GSNV Conflicting interpretations of pathogenicity 507122 rs1024374408 6:129591912-129591912 6:129270767-129270767
25 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)SNV Conflicting interpretations of pathogenicity 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
26 OPA1 NM_001354663.2(OPA1):c.-260_-243deldeletion Conflicting interpretations of pathogenicity 214916 rs863224140 3:193332587-193332604 3:193614798-193614815
27 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile)SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162
28 CAPN3 NM_000070.3(CAPN3):c.1746-20C>GSNV Conflicting interpretations of pathogenicity 92408 rs201892814 15:42695919-42695919 15:42403721-42403721
29 CAV3 NM_001234.5(CAV3):c.290_292del (p.Phe97del)deletion Uncertain significance 8286 rs199476335 3:8787385-8787387 3:8745699-8745701
30 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr)SNV Uncertain significance 288112 rs773309037 3:8787497-8787497 3:8745811-8745811
31 RYR1 NM_000540.2(RYR1):c.11599C>T (p.Arg3867Cys)SNV Uncertain significance 224400 rs138593495 19:39027398-39027398 19:38536758-38536758
32 RYR1 NM_000540.2(RYR1):c.5000G>A (p.Arg1667His)SNV Uncertain significance 373680 rs138978909 19:38976295-38976295 19:38485655-38485655
33 HERC2 NM_004667.5(HERC2):c.5045A>G (p.Asn1682Ser)SNV Uncertain significance 599009 rs140073033 15:28474681-28474681 15:28229535-28229535
34 RYR1 NM_000540.2(RYR1):c.1312G>C (p.Glu438Gln)SNV Uncertain significance 599010 rs765668209 19:38943526-38943526 19:38452886-38452886
35 ANO5 NM_213599.2(ANO5):c.1965G>C (p.Trp655Cys)SNV Uncertain significance 523571 rs760137559 11:22291924-22291924 11:22270378-22270378
36 RYR1 NM_000540.2(RYR1):c.1264G>A (p.Gly422Arg)SNV Uncertain significance 523377 rs757157750 19:38943478-38943478 19:38452838-38452838

Expression for Isolated Elevated Serum Creatine Phosphokinase Levels

Search GEO for disease gene expression data for Isolated Elevated Serum Creatine Phosphokinase Levels.

Pathways for Isolated Elevated Serum Creatine Phosphokinase Levels

Pathways related to Isolated Elevated Serum Creatine Phosphokinase Levels according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Isolated Elevated Serum Creatine Phosphokinase Levels

Cellular components related to Isolated Elevated Serum Creatine Phosphokinase Levels according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.15 RYR1 PIK3C2A MYOT HCN4 GAA FKRP
2 Golgi apparatus GO:0005794 9.8 VPS13A PIK3C2A FKRP DYSF DMD CAV3
3 T-tubule GO:0030315 9.46 RYR1 DYSF CAV3 CAPN3
4 Z disc GO:0030018 9.43 TCAP RYR1 MYOT DMD CAV3 CAPN3
5 dystrophin-associated glycoprotein complex GO:0016010 9.32 DMD CAV3
6 sarcolemma GO:0042383 9.23 RYR1 MYOT LAMA2 FKRP DYSF DMD

Biological processes related to Isolated Elevated Serum Creatine Phosphokinase Levels according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of membrane potential GO:0042391 9.76 HCN4 DMD CAV3
2 cardiac muscle contraction GO:0060048 9.63 TCAP GAA DMD
3 regulation of cytosolic calcium ion concentration GO:0051480 9.61 RYR1 CAV3 CAV2
4 regulation of cardiac muscle contraction GO:0055117 9.6 HCN4 CAV3
5 muscle fiber development GO:0048747 9.59 DYSF DMD
6 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 SELENON DMD
7 glycogen catabolic process GO:0005980 9.57 PYGM GAA
8 response to muscle stretch GO:0035994 9.56 TCAP DMD
9 plasma membrane repair GO:0001778 9.55 DYSF CAV3
10 regulation of calcium ion import GO:0090279 9.54 DYSF CAV3
11 nucleus localization GO:0051647 9.52 DMD CAV3
12 T-tubule organization GO:0033292 9.51 DYSF CAV3
13 regulation of heart rate GO:0002027 9.5 HCN4 DMD CAV3
14 regulation of cardiac muscle cell action potential involved in regulation of contraction GO:0098909 9.49 HCN4 CAV3
15 caveola assembly GO:0070836 9.48 CAV3 CAV2
16 muscle organ development GO:0007517 9.46 LAMA2 DMD CAV3 CAPN3
17 skeletal muscle fiber development GO:0048741 9.43 SELENON RYR1 CAV2
18 detection of muscle stretch GO:0035995 9.4 TCAP CAV3
19 regulation of skeletal muscle contraction GO:0014819 9.37 DMD CAV3
20 muscle contraction GO:0006936 9.35 RYR1 MYOT HCN4 DYSF CAV3
21 muscle cell cellular homeostasis GO:0046716 8.92 GAA DMD CAV3 CAPN3

Molecular functions related to Isolated Elevated Serum Creatine Phosphokinase Levels according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 9.32 DMD CAV3
2 titin binding GO:0031432 9.26 TCAP CAPN3
3 dystroglycan binding GO:0002162 9.16 FKRP DMD
4 molecular adaptor activity GO:0060090 9.13 CAV3 CAV2 CAPN3
5 structural constituent of muscle GO:0008307 8.92 TCAP MYOT DMD CAPN3

Sources for Isolated Elevated Serum Creatine Phosphokinase Levels

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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