.
isolated elevated serum creatine phosphokinase levels - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 the CAV3 gene on chromosome 3p25.3. (DO)
Synonyms:exact_synonym: CPK, ELEVATED SERUM;   Creatine Phosphokinase, Elevated Serum;   idiopathic hyperCKemia;   isolated hyperCKemia
 primary_id: MIM:123320

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
isolated elevated serum creatine phosphokinase levels term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chrNW_004624766:13,220,250...13,301,447
Ensembl chrNW_004624766:13,224,295...13,294,968 		JBrowse link
G G ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr 1:42,722,072...42,823,340
Ensembl chr 1:42,722,015...42,822,374 		JBrowse link
G P ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,412...37,255,489 		JBrowse link
G S Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chrNW_004936654:2,891,019...2,976,465
Ensembl chrNW_004936654:2,891,013...2,977,551 		JBrowse link
G D ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822 		JBrowse link
G B ANO5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chr11:22,201,694...22,295,781
Ensembl chr11:22,112,482...22,206,637 		JBrowse link
G C Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... NCBI chrNW_004955476:2,705,596...2,777,848
Ensembl chrNW_004955476:2,694,258...2,779,304 		JBrowse link
G R 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 Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 ClinVar
RGD		 PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... RGD:11570564 NCBI chr 1:110,222,411...110,323,505
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
G M 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 Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 ClinVar
RGD		 PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... RGD:11570564 NCBI chr 7:51,160,668...51,248,459
Ensembl chr 7:51,160,777...51,248,457 		JBrowse link
G H ANO5 anoctamin 5 IAGP DNA:missense mutations:exon:p.Y673C (c.2018A>G), p.R58W (c.172C>T) (human)
ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 ClinVar
RGD		 PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... RGD:11570564 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G N Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chrNW_004624737:27,171,402...27,195,008
Ensembl chrNW_004624737:27,171,402...27,195,004 		JBrowse link
G G BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr 9:112,439,954...112,465,875
Ensembl chr 9:112,439,782...112,466,086 		JBrowse link
G P BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr14:129,510,240...129,533,998
Ensembl chr14:129,466,905...129,533,993 		JBrowse link
G S Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		JBrowse link
G D BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr28:29,792,612...29,815,466
Ensembl chr28:29,792,777...29,815,138 		JBrowse link
G B BAG3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr10:116,221,747...116,248,692
Ensembl chr10:119,643,963...119,665,964 		JBrowse link
G C Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chrNW_004955551:446,322...468,329
Ensembl chrNW_004955551:446,605...469,207 		JBrowse link
G R Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr 1:192,533,460...192,557,281
Ensembl chr 1:183,102,871...183,126,858 		JBrowse link
G M Bag3 BCL2-associated athanogene 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr 7:128,125,307...128,148,705
Ensembl chr 7:128,125,340...128,148,705 		JBrowse link
G H BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:28492532 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G N Capn3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chrNW_004624804:9,473,075...9,512,643
Ensembl chrNW_004624804:9,473,117...9,512,353 		JBrowse link
G G CAPN3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr26:40,568,320...40,657,443
Ensembl chr26:40,568,885...40,625,597 		JBrowse link
G P CAPN3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 1:128,960,117...129,013,508
Ensembl chr 1:128,960,118...129,013,546 		JBrowse link
G S Capn3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chrNW_004936471:5,667,839...5,711,822
Ensembl chrNW_004936471:5,668,169...5,711,075 		JBrowse link
G D CAPN3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr30:9,329,190...9,384,622
Ensembl chr30:9,329,015...9,383,772 		JBrowse link
G C Capn3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chrNW_004955416:9,070,479...9,121,099
Ensembl chrNW_004955416:9,070,399...9,117,794 		JBrowse link
G R Capn3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:127,860,002...127,913,677
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G M Capn3 calpain 3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 2:120,294,074...120,335,400
Ensembl chr 2:120,294,053...120,335,399 		JBrowse link
G H CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G N Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chrNW_004624731:3,348,172...3,363,772
Ensembl chrNW_004624731:3,347,984...3,364,581 		JBrowse link
G G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G P CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr13:65,117,868...65,130,886
Ensembl chr13:65,117,795...65,131,273 		JBrowse link
G S Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chrNW_004936602:4,264,896...4,278,160
Ensembl chrNW_004936602:4,264,889...4,278,161 		JBrowse link
G D CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr20:9,384,901...9,398,055
Ensembl chr20:9,384,901...9,401,196 		JBrowse link
G B CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr 3:8,684,829...8,697,731
Ensembl chr 3:8,928,069...8,940,942 		JBrowse link
G C Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chrNW_004955561:326,008...335,911
Ensembl chrNW_004955561:325,944...335,914 		JBrowse link
G R Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr 4:147,137,993...147,153,967
Ensembl chr 4:145,582,060...145,598,137 		JBrowse link
G M Cav3 caveolin 3 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC OMIM
ClinVar		 PMID:1146501 PMID:09536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr 6:112,436,466...112,449,833
Ensembl chr 6:112,436,466...112,449,833 		JBrowse link
G H CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 OMIM
ClinVar		 PMID:1146501 PMID:9536092 PMID:9536098 PMID:10227634 PMID:10746614 More... NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G N Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr22:10,864,058...10,934,179
Ensembl chr22:10,865,724...10,934,200 		JBrowse link
G P DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450 		JBrowse link
G S Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004936529:1,099,510...1,171,587
Ensembl chrNW_004936529:1,099,647...1,173,124 		JBrowse link
G D DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		JBrowse link
G B DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 3:49,396,180...49,464,689
Ensembl chr 3:50,640,615...50,703,852 		JBrowse link
G C Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004955532:1,446,553...1,465,310
Ensembl chrNW_004955532:1,397,900...1,466,312 		JBrowse link
G R Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325 		JBrowse link
G M Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G H DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G N Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chrNW_004624762:22,306,962...24,846,427
Ensembl chrNW_004624762:22,746,729...24,847,938 		JBrowse link
G G DMD dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:29,543,003...32,218,011 JBrowse link
G P DMD dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:27,028,223...29,650,728
Ensembl chr  X:27,028,231...28,383,840 		JBrowse link
G S Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G D DMD dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576 		JBrowse link
G B DMD dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G C Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G R Dmd dystrophin ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:51,070,098...53,437,845
Ensembl chr  X:47,272,331...49,504,207 		JBrowse link
G M Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:81,858,244...84,248,656
Ensembl chr  X:81,992,476...84,249,747 		JBrowse link
G H DMD dystrophin IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 ClinVar PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G N Gaa alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004624801:9,217,633...9,235,931
Ensembl chrNW_004624801:9,217,639...9,235,931 		JBrowse link
G G GAA alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr16:72,064,315...72,083,293
Ensembl chr16:72,067,267...72,083,349 		JBrowse link
G P GAA alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr12:2,315,807...2,339,867
Ensembl chr12:2,315,809...2,341,327 		JBrowse link
G S Gaa alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004936594:4,125,595...4,142,261 JBrowse link
G D GAA alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr 9:1,601,092...1,615,582
Ensembl chr 9:1,601,121...1,656,597 		JBrowse link
G B GAA alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839 		JBrowse link
G C Gaa alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004955506:2,764,959...2,783,231
Ensembl chrNW_004955506:2,764,959...2,783,231 		JBrowse link
G R Gaa alpha glucosidase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr10:105,028,106...105,045,365
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G M Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr11:119,158,789...119,176,284
Ensembl chr11:119,158,713...119,176,280 		JBrowse link
G H GAA alpha glucosidase IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G N 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 More... NCBI chrNW_004624744:16,859,946...16,878,723
Ensembl chrNW_004624744:16,859,700...16,879,057 		JBrowse link
G 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 More... NCBI chr 8:69,948,800...69,965,168
Ensembl chr 8:69,949,052...69,966,421 		JBrowse link
G P 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 More... NCBI chr 4:61,577,413...61,596,106
Ensembl chr 4:61,577,112...61,596,049 		JBrowse link
G S 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 More... NCBI chrNW_004936648:2,981,802...2,999,161
Ensembl chrNW_004936648:2,981,546...3,014,430 		JBrowse link
G D 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 More... NCBI chr29:22,805,468...22,835,909
Ensembl chr29:22,804,965...22,833,069 		JBrowse link
G B 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 More... NCBI chr 8:70,854,665...70,900,532
Ensembl chr 8:72,528,869...72,545,346 		JBrowse link
G C 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 More... NCBI chrNW_004955444:6,053,422...6,069,741
Ensembl chrNW_004955444:6,051,301...6,069,765 		JBrowse link
G R 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 More... NCBI chr 5:6,715,935...6,735,013
Ensembl chr 5:1,932,613...2,030,061 		JBrowse link
G M 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 More... NCBI chr 1:17,202,028...17,234,513
Ensembl chr 1:17,215,586...17,234,495 		JBrowse link
G H GDAP1 ganglioside induced differentiation associated protein 1 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 More... NCBI chr 8:74,350,403...74,488,872
Ensembl chr 8:74,320,613...74,518,007 		JBrowse link
G N Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165 		JBrowse link
G G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr22:11,116,497...11,118,980
Ensembl chr22:11,116,752...11,118,926 		JBrowse link
G P GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155 		JBrowse link
G S Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004936529:1,336,002...1,338,615
Ensembl chrNW_004936529:1,336,002...1,338,400 		JBrowse link
G D GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		JBrowse link
G B GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr 3:49,653,638...49,656,135
Ensembl chr 3:50,889,479...50,891,969 		JBrowse link
G C Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chrNW_004955532:1,622,605...1,624,900
Ensembl chrNW_004955532:1,622,605...1,624,900 		JBrowse link
G R Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr 8:108,737,429...108,740,437
Ensembl chr 8:108,693,060...108,767,286 		JBrowse link
G M Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		JBrowse link
G H GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489 		JBrowse link
G P HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792 		JBrowse link
G S Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chrNW_004936471:38,419,147...38,606,312
Ensembl chrNW_004936471:38,419,129...38,606,323 		JBrowse link
G D HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr 3:31,723,113...31,966,061
Ensembl chr 3:31,723,500...31,966,199 		JBrowse link
G C Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chrNW_004955533:1,304,675...1,489,041
Ensembl chrNW_004955533:1,304,675...1,489,041 		JBrowse link
G R Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr 1:116,009,681...116,243,888
Ensembl chr 1:106,880,084...107,108,134 		JBrowse link
G M Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548 		JBrowse link
G H HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G N Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chrNW_004624753:3,194,678...3,794,145
Ensembl chrNW_004624753:3,336,227...3,793,940 		JBrowse link
G G LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr13:44,074,128...44,688,187
Ensembl chr13:44,073,525...44,531,889 		JBrowse link
G P LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698 		JBrowse link
G S Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chrNW_004936639:259,662...825,170
Ensembl chrNW_004936639:259,889...825,065 		JBrowse link
G D LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 1:67,645,461...68,096,506
Ensembl chr 1:67,611,122...68,095,914 		JBrowse link
G B LAMA2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337 		JBrowse link
G C Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chrNW_004955436:9,829,777...10,400,101
Ensembl chrNW_004955436:9,830,030...10,399,891 		JBrowse link
G R Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:17,672,536...18,320,530 		JBrowse link
G M Lama2 laminin, alpha 2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754 		JBrowse link
G H LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G B LOC100976978 E3 ubiquitin-protein ligase HERC2 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:30755392 NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074 		JBrowse link
G B LOC100984344 calpain-3 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr15:21,227,371...21,372,406
Ensembl chr15:39,476,302...39,528,820
Ensembl chr15:39,476,302...39,528,820 		JBrowse link
G N Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chrNW_004624730:63,911,066...63,994,886
Ensembl chrNW_004624730:63,911,066...63,995,596 		JBrowse link
G G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G P OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G S Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G D OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr23:52,068,123...52,154,410
Ensembl chr23:52,068,118...52,151,593 		JBrowse link
G B OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358 		JBrowse link
G C Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081 		JBrowse link
G R Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G M Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G H OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:12036970 PMID:19303950 PMID:20157015 PMID:22857269 PMID:23388408 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G N Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chrNW_004624731:3,367,645...3,384,815
Ensembl chrNW_004624731:3,370,701...3,385,640 		JBrowse link
G G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G P OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr13:65,134,055...65,155,543
Ensembl chr13:65,134,057...65,153,487 		JBrowse link
G S Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chrNW_004936602:4,241,743...4,259,866
Ensembl chrNW_004936602:4,241,737...4,260,549 		JBrowse link
G D OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr20:9,358,797...9,382,308
Ensembl chr20:9,358,916...9,378,343 		JBrowse link
G B OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr 3:8,701,344...8,721,706 JBrowse link
G C Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chrNW_004955561:340,387...354,499
Ensembl chrNW_004955561:337,902...354,336 		JBrowse link
G R Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr 4:147,154,374...147,171,723
Ensembl chr 4:145,599,561...145,614,674 		JBrowse link
G M Oxtr oxytocin receptor ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr 6:112,450,646...112,467,800
Ensembl chr 6:112,450,644...112,466,904 		JBrowse link
G H OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC		 ClinVar PMID:1146501 PMID:09536092 PMID:10227634 PMID:11001938 PMID:11251997 More... NCBI chr 3:8,741,269...8,769,613
Ensembl chr 3:8,750,381...8,769,628 		JBrowse link
G N Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004624734:24,595,748...24,636,845
Ensembl chrNW_004624734:24,595,702...24,636,937 		JBrowse link
G G POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr24:54,519,980...54,567,584
Ensembl chr24:54,519,754...54,567,584 		JBrowse link
G P POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 7:100,350,451...100,392,164
Ensembl chr 7:100,350,460...100,392,332 		JBrowse link
G S Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004936488:6,102,612...6,141,842
Ensembl chrNW_004936488:6,102,524...6,141,875 		JBrowse link
G D POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 8:50,091,861...50,133,388
Ensembl chr 8:50,091,865...50,133,442 		JBrowse link
G B POMT2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr14:57,827,841...57,874,100
Ensembl chr14:77,029,625...77,075,806 		JBrowse link
G C Pomt2 protein O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004955438:1,179,064...1,218,860
Ensembl chrNW_004955438:1,179,064...1,218,860 		JBrowse link
G R Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr 6:112,486,416...112,525,799
Ensembl chr 6:106,755,462...106,794,849 		JBrowse link
G M Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr12:87,153,635...87,194,742
Ensembl chr12:87,153,635...87,194,742 		JBrowse link
G H POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G N Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624767:21,626,740...21,639,963
Ensembl chrNW_004624767:21,626,740...21,640,161 		JBrowse link
G G PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:9,474,539...9,490,612
Ensembl chr 1:9,475,622...9,491,500 		JBrowse link
G P PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:7,409,330...7,421,256
Ensembl chr 2:7,409,116...7,421,254 		JBrowse link
G S Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:4,551,164...4,564,109
Ensembl chrNW_004936599:4,551,032...4,564,154 		JBrowse link
G D PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr18:52,398,192...52,410,731
Ensembl chr18:52,398,056...52,410,464 		JBrowse link
G B PYGM glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr11:60,101,810...60,115,813
Ensembl chr11:63,443,609...63,457,430 		JBrowse link
G C Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955422:20,411,480...20,424,676
Ensembl chrNW_004955422:20,411,480...20,424,931 		JBrowse link
G R Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:213,119,805...213,134,622
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G M Pygm muscle glycogen phosphorylase ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr19:6,434,438...6,448,494
Ensembl chr19:6,434,429...6,448,489 		JBrowse link
G H PYGM glycogen phosphorylase, muscle associated IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:25741868 PMID:28492532 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G N Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314 		JBrowse link
G G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G P RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr 6:47,339,759...47,458,457
Ensembl chr 6:47,343,768...47,458,458 		JBrowse link
G S Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chrNW_004936801:1,185,615...1,298,416
Ensembl chrNW_004936801:1,185,733...1,298,289 		JBrowse link
G D RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr 1:114,461,350...114,579,577
Ensembl chr 1:114,461,348...114,579,493 		JBrowse link
G B RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G C Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chrNW_004955468:879,807...1,000,118
Ensembl chrNW_004955468:879,951...1,000,036 		JBrowse link
G R Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
G M Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
G H RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: HYPERCKEMIA, IDIOPATHIC ClinVar PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G N Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chrNW_004624795:6,152,317...6,162,190
Ensembl chrNW_004624795:6,152,323...6,161,359 		JBrowse link
G G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr16:43,160,402...43,173,368
Ensembl chr16:43,160,401...43,170,109 		JBrowse link
G P SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr12:26,356,691...26,368,561
Ensembl chr12:26,356,777...26,371,600 		JBrowse link
G S Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chrNW_004936490:11,470,155...11,482,377
Ensembl chrNW_004936490:11,468,935...11,482,468 		JBrowse link
G D SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864 		JBrowse link
G B SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr17:44,255,807...44,266,182
Ensembl chr17:49,130,332...49,141,188 		JBrowse link
G C Sgca sarcoglycan alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chrNW_004955451:11,490,891...11,501,618 JBrowse link
G R Sgca sarcoglycan, alpha ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr10:79,904,698...79,922,808
Ensembl chr10:79,908,738...79,922,813 		JBrowse link
G M Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153 		JBrowse link
G H SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:28492532 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G M Ssu2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 6:112,336,283...112,365,160
Ensembl chr 6:112,336,285...112,364,984 		JBrowse link
G N Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004624731:3,265,644...3,289,618
Ensembl chrNW_004624731:3,258,226...3,288,523 		JBrowse link
G G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		JBrowse link
G P SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr13:65,041,193...65,066,367
Ensembl chr13:65,039,719...65,066,369 		JBrowse link
G S Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004936602:4,343,667...4,367,705
Ensembl chrNW_004936602:4,348,667...4,364,162 		JBrowse link
G D SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr20:9,449,393...9,481,959
Ensembl chr20:9,451,541...9,478,986 		JBrowse link
G B SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 3:8,573,866...8,599,956
Ensembl chr 3:8,818,553...8,844,625 		JBrowse link
G C Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chrNW_004955561:254,876...274,581
Ensembl chrNW_004955561:244,675...274,551 		JBrowse link
G R Ssuh2 ssu-2 homolog ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 4:147,058,767...147,077,640
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
G H SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:10227634 PMID:10746614 PMID:11353417 PMID:11431690 PMID:11756609 More... NCBI chr 3:8,619,386...8,681,927
Ensembl chr 3:8,619,386...8,745,040 		JBrowse link
G N Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chrNW_004624795:3,411,744...3,414,229
Ensembl chrNW_004624795:3,410,951...3,413,052 		JBrowse link
G G TCAP titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr16:66,500,535...66,503,455
Ensembl chr16:66,500,949...66,501,703 		JBrowse link
G P TCAP titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr12:22,651,666...22,652,904
Ensembl chr12:22,651,664...22,653,722 		JBrowse link
G S Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chrNW_004936490:14,856,433...14,857,692
Ensembl chrNW_004936490:14,856,433...14,857,722 		JBrowse link
G D TCAP titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr 9:22,811,792...22,812,980
Ensembl chr 9:22,794,177...22,813,012 		JBrowse link
G B TCAP titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr17:17,622,318...17,625,252
Ensembl chr17:17,839,139...17,842,727 		JBrowse link
G C Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chrNW_004955451:14,413,657...14,414,735
Ensembl chrNW_004955451:14,413,657...14,414,735 		JBrowse link
G R Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr10:83,878,006...83,879,174
Ensembl chr10:83,381,719...83,382,887 		JBrowse link
G M Tcap titin-cap ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr11:98,274,637...98,275,779
Ensembl chr11:98,274,637...98,275,779 		JBrowse link
G H TCAP titin-cap IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G N Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004624762:17,856,746...17,915,975
Ensembl chrNW_004624762:17,856,731...17,914,938 		JBrowse link
G G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
G P XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:33,544,287...33,602,576
Ensembl chr  X:33,544,731...33,602,574 		JBrowse link
G S Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439 		JBrowse link
G D XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:32,453,404...32,498,145
Ensembl chr  X:32,453,570...32,495,110 		JBrowse link
G B XK X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:30,136,046...30,182,541
Ensembl chr  X:37,846,539...37,892,348 		JBrowse link
G C Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chrNW_004955587:668,871...725,829
Ensembl chrNW_004955587:668,070...728,959 		JBrowse link
G R Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:16,108,913...16,145,322
Ensembl chr  X:13,436,418...13,472,830 		JBrowse link
G M Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		JBrowse link
G H XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Nutritional and Metabolic Diseases 94048
      disease of metabolism 94048
        inherited metabolic disorder 74830
          isolated elevated serum creatine phosphokinase levels 199
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal dominant disease 157513
                isolated elevated serum creatine phosphokinase levels 199
paths to the root