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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 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
RGD
PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... RGD:11570564 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555
JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858
JBrowse link
G Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Creatine phosphokinase, elevated serum
OMIM
ClinVar
PMID:1146501 PMID:09536092 PMID:10227634 PMID:10746614 PMID:11001938 More... NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gdap1 ganglioside-induced differentiation-associated-protein 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More... NCBI chr 5:1,932,613...1,951,691
Ensembl chr 5:1,932,613...2,030,061
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 1:17,672,675...18,320,641
Ensembl chr 1:17,672,536...18,320,530
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 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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:16084090 PMID:24195946 PMID:25741868 PMID:28166811 PMID:28259615 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
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 PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735
JBrowse link
G Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr10:83,381,719...83,382,887
Ensembl chr10:83,381,719...83,382,887
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          isolated elevated serum creatine phosphokinase levels 15
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                isolated elevated serum creatine phosphokinase levels 15
paths to the root