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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 Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:7874130, PMID:8533761, PMID:8845168, PMID:10430417, PMID:10644771, PMID:10665666, PMID:11840191, PMID:11933197, PMID:12390967, PMID:15162127, PMID:15980168, PMID:17107341, PMID:17932099, PMID:17990293, PMID:18337100, PMID:18337730, PMID:18807109, PMID:20301529, PMID:22094069, PMID:22197187, PMID:22649220, PMID:22995991, PMID:23097607, PMID:23739125, PMID:24033266, PMID:24349310, PMID:25741868, PMID:26096614, PMID:26467025, PMID:27142102, PMID:27296017, PMID:27614575, PMID:28492532, PMID:29606556, PMID:30311386 NCBI chr 4:71,674,218...71,704,318
Ensembl chr 4:71,675,383...71,702,819
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 glucosidase, alpha, acid 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 Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:22961002, PMID:25342199, PMID:26182879, PMID:27549087, PMID:28492532, PMID:30311386 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975
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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          isolated elevated serum creatine phosphokinase levels 34
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                isolated elevated serum creatine phosphokinase levels 34
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.