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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:isolated elevated serum creatine phosphokinase levels
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Accession:DOID:0111338 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: CPK, ELEVATED SERUM;   Creatine Phosphokinase, Elevated Serum;   idiopathic hyperCKemia;   isolated hyperCKemia
 primary_id: OMIM:123320
For additional species annotation, visit the Alliance of Genome Resources.


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isolated elevated serum creatine phosphokinase levels term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:1631143 PMID:8335021 PMID:12117480 PMID:21343608 PMID:25741868 PMID:27296017 PMID:28492532 PMID:30311386 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
G Ano5 anoctamin 5 ISO DNA:missense mutations:exon:p.Y673C (c.2018A>G), p.R58W (c.172C>T) (human)
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23606453 PMID:23607914 PMID:23757202 PMID:24022920 PMID:24232312 PMID:24843231 PMID:25741868 PMID:25891276 PMID:26467025 PMID:26886200 PMID:27708273 PMID:27911336 PMID:28492532 PMID:30311386 PMID:30564623, PMID:23055322 RGD:11570564 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885
JBrowse link
G Bicd2 BICD cargo adaptor 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 PMID:30311386 NCBI chr17:15,673,649...15,718,035
Ensembl chr17:15,673,650...15,718,035
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated serum CPK
ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 PMID:14981715 PMID:15351423 PMID:15689361 PMID:15725583 PMID:16100770 PMID:16141003 PMID:16411092 PMID:16650086 PMID:17236769 PMID:17318636 PMID:17979987 PMID:18055493 PMID:20635405 PMID:21204801 PMID:21984748 PMID:24803842 PMID:25135358 PMID:25741868 PMID:26301378 PMID:26467025 PMID:27142102 PMID:28492532 PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated serum CPK
ClinVar Annotator: match by term: Creatine phosphokinase, elevated serum
OMIM
ClinVar
PMID:1146501 PMID:09536092 PMID:10227634 PMID:10746614 PMID:11001938 PMID:11251997 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:11884389 PMID:12082049 PMID:12269726 PMID:12666119 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14663034 PMID:14749532 PMID:15318349 PMID:15580566 PMID:16723230 PMID:17060380 PMID:17210839 PMID:17897828 PMID:17994539 PMID:18583131 PMID:18930476 PMID:19380584 PMID:20229577 PMID:20472890 PMID:21404291 PMID:21610159 PMID:21660982 PMID:22976939 PMID:23465283 PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:26467025 PMID:26498160 PMID:26947586 PMID:27483260 PMID:27930701 PMID:28492532 PMID:28981925 PMID:29961767 PMID:30055862 PMID:30311386 NCBI chr 4:144,382,945...144,398,919
Ensembl chr 4:144,382,945...144,398,917
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Elevated serum CPK ClinVar PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15122511 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:19338683 PMID:19805189 PMID:21807500 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23469205 PMID:24033266 PMID:24884479 PMID:25431674 PMID:25741868 PMID:26084796 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:27083775 PMID:27153395 PMID:27269948 PMID:27433846 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:30311386 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 PMID:28492532 PMID:30311386 PMID:30564623 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Elevated serum CPK ClinVar PMID:28492532 PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Elevated serum CPK ClinVar PMID:14678801 PMID:18276788 PMID:18832576 PMID:18853459 PMID:24488599 PMID:25591676 PMID:25741868 PMID:25868377 PMID:27821570 PMID:28492532 PMID:30311386 NCBI chr 4:115,700,942...115,901,873
Ensembl chr 4:115,712,850...115,901,873
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Fbxo38 F-box protein 38 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr18:57,827,391...57,874,515
Ensembl chr18:57,827,392...57,866,741
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Flnc filamin C ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 4:56,710,934...56,738,779
Ensembl chr 4:56,711,049...56,738,791
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:12601120 PMID:17805474 PMID:18495398 PMID:19862843 PMID:21471980 PMID:21704464 PMID:21940687 PMID:21984055 PMID:22521436 PMID:23884227 PMID:24169249 PMID:24190153 PMID:24872213 PMID:25388776 PMID:25526786 PMID:25741868 PMID:28492532 PMID:29124014 PMID:30311386 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:25231362 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:1,328,963...1,347,946
Ensembl chr 5:1,328,913...1,347,921
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gyg1 glycogenin 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:24033266 PMID:25272951 PMID:25741868 PMID:27718144 PMID:28492532 PMID:30311386 NCBI chr 2:104,916,734...104,958,219
Ensembl chr 2:104,916,738...104,958,034
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr 1:114,453,033...114,653,787
Ensembl chr 1:114,453,054...114,653,793
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:9674786 PMID:25741868 PMID:28445022 PMID:28492532 PMID:30055037 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:19303950 PMID:20157015 PMID:22857269 PMID:25741868 PMID:26467025 PMID:27890673 PMID:28492532 PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Pnpla2 patatin-like phospholipase domain containing 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 1:214,434,638...214,439,720
Ensembl chr 1:214,434,626...214,439,720
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated serum CPK
ClinVar PMID:16940 PMID:11575529 PMID:15448513 PMID:16084090 PMID:16380615 PMID:16917943 PMID:16940308 PMID:17033962 PMID:17483490 PMID:18171678 PMID:18414213 PMID:19648156 PMID:22473935 PMID:23553787 PMID:23826317 PMID:24195946 PMID:25637381 PMID:25741868 PMID:28259615 PMID:28357410 PMID:28492532 PMID:30236257 PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 PMID:30311386 NCBI chr10:82,770,905...82,785,142
Ensembl chr10:82,770,905...82,785,142
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 PMID:30311386 NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
JBrowse link
G Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Creatine phosphokinase, elevated serum
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated serum CPK
ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 PMID:11805270 PMID:12082049 PMID:12269726 PMID:12807393 PMID:12839838 PMID:12939441 PMID:14633633 PMID:14749532 PMID:15318349 PMID:15580566 PMID:16723230 PMID:17897828 PMID:18583131 PMID:18930476 PMID:19380584 PMID:20472890 PMID:21404291 PMID:21610159 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28981925 PMID:30055862 PMID:30311386 NCBI chr 4:144,301,913...144,322,197
Ensembl chr 4:144,307,817...144,318,580
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr10:86,337,705...86,338,414
Ensembl chr10:86,337,728...86,338,411
JBrowse link
G Xirp2 xin actin-binding repeat containing 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:30311386 NCBI chr 3:53,563,207...53,658,113
Ensembl chr 3:53,563,194...53,658,132
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        inherited metabolic disorder 2255
          isolated elevated serum creatine phosphokinase levels 32
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                isolated elevated serum creatine phosphokinase levels 32
paths to the root