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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Elevated circulating creatine kinase concentration
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Accession:HP:0003236 term browser browse the term
Definition:An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Comment:'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
Synonyms:exact_synonym: Elevated blood creatine phosphokinase;   Elevated circulating creatine phosphokinase;   Elevated creatine kinase;   Elevated serum CPK;   Elevated serum creatine kinase;   Elevated serum creatine phosphokinase;   High serum creatine kinase;   Increased CPK;   Increased creatine kinase;   Increased creatine phosphokinase;   Increased serum CK;   Increased serum creatine kinase;   Increased serum creatine phosphokinase
 alt_id: HP:0002147;   HP:0002906;   HP:0003078;   HP:0003525;   HP:0003531;   HP:0008164
 xref: UMLS:C0151576;   UMLS:C0241005


show annotations for term's descendants           Sort by:
Elevated circulating creatine kinase concentration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADM acyl-CoA dehydrogenase medium chain IAGP HPO ORPHA:42 NCBI chr 1:75,724,709...75,763,679
Ensembl chr 1:75,724,431...75,787,575 		JBrowse link
G ACADVL acyl-CoA dehydrogenase very long chain IAGP HPO OMIM:201475 ORPHA:26793 NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266 		JBrowse link
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO ORPHA:171436 ORPHA:97240 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ACTN2 actinin alpha 2 IAGP HPO OMIM:618655 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G ADK adenosine kinase IAGP HPO OMIM:614300 NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963 		JBrowse link
G AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase IAGP HPO OMIM:232400 NCBI chr 1:99,849,258...99,924,023
Ensembl chr 1:99,850,361...99,924,023 		JBrowse link
G AHCY adenosylhomocysteinase IAGP HPO ORPHA:88618 NCBI chr20:34,231,981...34,311,836
Ensembl chr20:34,280,268...34,311,802 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 IAGP HPO OMIM:310490 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO OMIM:611881 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G ALG14 ALG14 UDP-N-acetylglucosaminyltransferase subunit IAGP HPO ORPHA:353327 NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO ORPHA:353327 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G AMACR alpha-methylacyl-CoA racemase IAGP HPO ORPHA:79095 NCBI chr 5:33,986,165...34,008,050
Ensembl chr 5:33,986,165...34,008,104 		JBrowse link
G ANO5 anoctamin 5 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 More... OMIM:611307 OMIM:613319 ORPHA:206549 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G ANXA11 annexin A11 IAGP HPO OMIM:619733 NCBI chr10:80,150,889...80,205,808
Ensembl chr10:80,150,889...80,205,572 		JBrowse link
G AP5Z1 adaptor related protein complex 5 subunit zeta 1 IAGP HPO ORPHA:306511 NCBI chr 7:4,775,623...4,794,397
Ensembl chr 7:4,775,615...4,794,397 		JBrowse link
G APTX aprataxin IAGP HPO OMIM:208920 NCBI chr 9:32,972,616...33,025,120
Ensembl chr 9:32,886,601...33,025,130 		JBrowse link
G AR androgen receptor IAGP HPO OMIM:313200 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ASAH1 N-acylsphingosine amidohydrolase 1 IAGP HPO OMIM:159950 NCBI chr 8:18,055,992...18,084,961
Ensembl chr 8:18,055,992...18,084,998 		JBrowse link
G ATP5F1D ATP synthase F1 subunit delta IAGP HPO OMIM:618120 NCBI chr19:1,241,751...1,244,825
Ensembl chr19:1,241,746...1,244,825 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO OMIM:615181 ORPHA:588 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B4GALT1 beta-1,4-galactosyltransferase 1 IAGP HPO OMIM:607091 ORPHA:79332 NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO OMIM:615287 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BAG3 BAG cochaperone 3 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:28492532 OMIM:612954 NCBI chr10:119,651,380...119,677,819
Ensembl chr10:119,651,380...119,677,819 		JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293 		JBrowse link
G BCL7B BAF chromatin remodeling complex subunit BCL7B IAGP HPO ORPHA:904 NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690 		JBrowse link
G BICD2 BICD cargo adaptor 2 IAGP HPO OMIM:615290 NCBI chr 9:92,711,363...92,764,833
Ensembl chr 9:92,711,363...92,764,833 		JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212 		JBrowse link
G BVES blood vessel epicardial substance IAGP HPO OMIM:616812 NCBI chr 6:105,096,822...105,137,157
Ensembl chr 6:105,096,822...105,137,157 		JBrowse link
G C19orf12 chromosome 19 open reading frame 12 IAGP HPO OMIM:614298 NCBI chr19:29,698,886...29,715,789
Ensembl chr19:29,698,937...29,715,789 		JBrowse link
G C1QBP complement C1q binding protein IAGP HPO OMIM:617713 NCBI chr17:5,432,777...5,439,155
Ensembl chr17:5,432,777...5,448,830 		JBrowse link
G CA2 carbonic anhydrase 2 IAGP HPO ORPHA:2785 NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO OMIM:620246 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CAPN3 calpain 3 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... OMIM:253600 OMIM:618129 ORPHA:267 NCBI chr15:42,359,501...42,412,317
Ensembl chr15:42,359,498...42,412,949 		JBrowse link
G CASQ1 calsequestrin 1 IAGP HPO OMIM:616231 ORPHA:88635 NCBI chr 1:160,190,575...160,201,886
Ensembl chr 1:160,190,575...160,201,886 		JBrowse link
G CAV3 caveolin 3 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration
ClinVar Annotator: match by term: Increased CPK		 ClinVar
HPO		 PMID:1146501 PMID:9536092 PMID:9536098 PMID:10227634 PMID:10746614 More... OMIM:123320 OMIM:606072 OMIM:614321 ORPHA:206599 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G CAVIN1 caveolae associated protein 1 IAGP HPO OMIM:613327 NCBI chr17:42,402,449...42,423,256
Ensembl chr17:42,402,449...42,423,256 		JBrowse link
G CCDC115 coiled-coil domain containing 115 IAGP HPO OMIM:616828 NCBI chr 2:130,337,933...130,342,681
Ensembl chr 2:130,337,933...130,342,699 		JBrowse link
G CFL2 cofilin 2 IAGP HPO ORPHA:171436 NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO OMIM:615048 OMIM:616209 ORPHA:276435 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G CHKB choline kinase beta IAGP HPO OMIM:602541 NCBI chr22:50,578,963...50,582,849
Ensembl chr22:50,578,959...50,601,455 		JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO ORPHA:168486 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143 		JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein IAGP HPO OMIM:602668 NCBI chr 3:129,167,827...129,183,896
Ensembl chr 3:129,167,827...129,183,922 		JBrowse link
G COA7 cytochrome c oxidase assembly factor 7 IAGP HPO OMIM:618387 NCBI chr 1:52,684,449...52,698,347
Ensembl chr 1:52,684,449...52,698,347 		JBrowse link
G COG6 component of oligomeric golgi complex 6 IAGP HPO OMIM:614576 NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665 		JBrowse link
G COG7 component of oligomeric golgi complex 7 IAGP HPO OMIM:608779 ORPHA:79333 NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189 		JBrowse link
G COG8 component of oligomeric golgi complex 8 IAGP HPO OMIM:611182 NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO OMIM:616471 ORPHA:610 ORPHA:75840 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO OMIM:175780 OMIM:611773 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:158810 ORPHA:610 ORPHA:75840 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL6A2 collagen type VI alpha 2 chain IAGP HPO OMIM:255600 ORPHA:610 ORPHA:75840 NCBI chr21:46,098,112...46,132,848
Ensembl chr21:46,098,112...46,132,848 		JBrowse link
G COL6A3 collagen type VI alpha 3 chain IAGP HPO ORPHA:610 ORPHA:75840 NCBI chr 2:237,324,018...237,414,164
Ensembl chr 2:237,324,003...237,414,328 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase IAGP HPO OMIM:607426 NCBI chr 4:83,263,824...83,285,134
Ensembl chr 4:83,261,536...83,284,914 		JBrowse link
G COX16 cytochrome c oxidase assembly factor COX16 IAGP HPO OMIM:619355 NCBI chr14:70,325,081...70,359,683
Ensembl chr14:70,325,081...70,416,984 		JBrowse link
G COX20 cytochrome c oxidase assembly factor COX20 IAGP HPO OMIM:619054 NCBI chr 1:244,835,306...244,845,063
Ensembl chr 1:244,835,616...244,845,057 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP HPO OMIM:255120 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CPT2 carnitine palmitoyltransferase 2 IAGP HPO OMIM:600649 OMIM:608836 ORPHA:228302 ORPHA:228305 ORPHA:228308 NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO OMIM:614643 OMIM:616052 ORPHA:588 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CRYAB crystallin alpha B IAGP HPO OMIM:608810 OMIM:613869 OMIM:615184 NCBI chr11:111,908,564...111,923,740
Ensembl chr11:111,908,564...111,923,722 		JBrowse link
G CTSD cathepsin D IAGP HPO ORPHA:168486 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration ClinVar
HPO		 OMIM:613818 OMIM:616538 ORPHA:280333 ORPHA:370997 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DES desmin IAGP HPO OMIM:604765 NCBI chr 2:219,418,377...219,426,734
Ensembl chr 2:219,418,377...219,426,735 		JBrowse link
G DGUOK deoxyguanosine kinase IAGP HPO OMIM:617070 NCBI chr 2:73,926,880...73,958,946
Ensembl chr 2:73,926,826...73,958,961 		JBrowse link
G DHX16 DEAH-box helicase 16 IAGP HPO OMIM:618733 NCBI chr 6:30,653,127...30,673,006
Ensembl chr 6:30,653,119...30,673,006 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration		 ClinVar
HPO		 PMID:9536098 PMID:16770791 PMID:17576681 PMID:19959795 PMID:25741868 More... OMIM:300376 OMIM:310200 ORPHA:206546 ORPHA:98895 ORPHA:98896 NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DMGDH dimethylglycine dehydrogenase IAGP HPO OMIM:605850 ORPHA:243343 NCBI chr 5:78,997,564...79,069,674
Ensembl chr 5:78,997,564...79,236,038 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO OMIM:615156 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DNAJB4 DnaJ heat shock protein family (Hsp40) member B4 IAGP HPO OMIM:620326 NCBI chr 1:77,979,175...78,017,964
Ensembl chr 1:77,979,175...78,017,964 		JBrowse link
G DNAJB6 DnaJ heat shock protein family (Hsp40) member B6 IAGP HPO OMIM:603511 NCBI chr 7:157,337,004...157,417,439
Ensembl chr 7:157,335,381...157,417,439 		JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453 		JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO ORPHA:168486 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031 		JBrowse link
G DNM2 dynamin 2 IAGP HPO OMIM:615368 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DNMT3B DNA methyltransferase 3 beta IAGP HPO ORPHA:269 NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359 		JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 IAGP HPO ORPHA:353327 NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331 		JBrowse link
G DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic IAGP HPO OMIM:608799 ORPHA:79322 NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140 		JBrowse link
G DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory IAGP HPO OMIM:615042 ORPHA:329178 NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO OMIM:612937 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G DPYS dihydropyrimidinase IAGP HPO OMIM:222748 NCBI chr 8:104,379,431...104,467,055
Ensembl chr 8:104,330,324...104,467,055 		JBrowse link
G DUX4 double homeobox 4 IAGP HPO ORPHA:269 NCBI chr 4:190,173,774...190,185,911
Ensembl chr 4:190,173,774...190,185,942 		JBrowse link
G DUX4L1 double homeobox 4 like 1 (pseudogene) IAGP HPO ORPHA:269 NCBI chr 4:190,084,412...190,085,696
Ensembl chr 4:190,084,412...190,085,686 		JBrowse link
G DYSF dysferlin IAGP HPO OMIM:253601 OMIM:254130 OMIM:606768 ORPHA:268 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122 		JBrowse link
G ELN elastin IAGP HPO ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907 		JBrowse link
G EMD emerin IAGP HPO OMIM:310300 ORPHA:98863 NCBI chr  X:154,379,295...154,381,523
Ensembl chr  X:154,379,273...154,381,574 		JBrowse link
G ENO3 enolase 3 IAGP HPO OMIM:612932 NCBI chr17:4,948,710...4,957,129
Ensembl chr17:4,948,092...4,957,131 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO OMIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G FAM111B FAM111 trypsin like peptidase B IAGP HPO OMIM:615704 NCBI chr11:59,107,237...59,127,412
Ensembl chr11:59,107,185...59,127,412 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP HPO OMIM:300280 OMIM:300695 OMIM:300696 OMIM:300717 OMIM:300718 ORPHA:98863 NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO ORPHA:300179 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637 		JBrowse link
G FKRP fukutin related protein IAGP DNA:missense mutation: :p.A455D(human) HPO
RGD		 PMID:14652796 OMIM:236670 OMIM:606612 OMIM:607155 OMIM:613153 ORPHA:34515 ORPHA:370959 ORPHA:370968 ORPHA:588, RGD:1358626 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 OMIM:253800 OMIM:611588 OMIM:611615 OMIM:613152 ORPHA:588 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLAD1 flavin adenine dinucleotide synthetase 1 IAGP HPO OMIM:255100 NCBI chr 1:154,983,344...154,993,111
Ensembl chr 1:154,983,338...154,993,111 		JBrowse link
G FLNC filamin C IAGP HPO OMIM:609524 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FRG1 FSHD region gene 1 IAGP HPO OMIM:158900 ORPHA:269 NCBI chr 4:189,940,872...189,963,192
Ensembl chr 4:189,940,855...189,963,202 		JBrowse link
G GAA alpha glucosidase IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:25741868 OMIM:232300 ORPHA:308552 NCBI chr17:80,101,581...80,119,881
Ensembl chr17:80,101,533...80,119,881 		JBrowse link
G GATB glutamyl-tRNA amidotransferase subunit B IAGP HPO OMIM:618838 NCBI chr 4:151,670,504...151,761,007
Ensembl chr 4:151,670,504...151,761,007 		JBrowse link
G GATC glutamyl-tRNA amidotransferase subunit C IAGP HPO OMIM:618839 NCBI chr12:120,446,444...120,463,749
Ensembl chr12:120,446,444...120,463,749 		JBrowse link
G GDAP1 ganglioside induced differentiation associated protein 1 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 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 GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO ORPHA:353327 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 IAGP HPO OMIM:619518 NCBI chr 1:235,327,216...235,344,532
Ensembl chr 1:235,327,350...235,344,532 		JBrowse link
G GIPC1 GIPC PDZ domain containing family member 1 IAGP HPO OMIM:618940 NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP DNA:mutations: cds:multiple
ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase		 HPO
ClinVar
RGD		 PMID:25741868 PMID:26310427 OMIM:615350 OMIM:615351 OMIM:615352 ORPHA:353327 ORPHA:363623 ORPHA:370959 ORPHA:370968 ORPHA:588, RGD:11530903 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO OMIM:605820 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G GOLGA2 golgin A2 IAGP HPO OMIM:620240 NCBI chr 9:128,255,829...128,276,007
Ensembl chr 9:128,255,829...128,276,026 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP HPO OMIM:614018 OMIM:620166 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:168486 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106 		JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692 		JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605 		JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605 		JBrowse link
G GYG1 glycogenin 1 IAGP HPO OMIM:616199 NCBI chr 3:148,991,540...149,031,775
Ensembl chr 3:148,991,408...149,031,775 		JBrowse link
G HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha IAGP HPO OMIM:609015 NCBI chr 2:26,190,635...26,244,632
Ensembl chr 2:26,190,635...26,244,672 		JBrowse link
G HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta IAGP HPO OMIM:620300 NCBI chr 2:26,244,939...26,290,465
Ensembl chr 2:26,243,170...26,290,465 		JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar PMID:25741868 PMID:30755392 NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179 		JBrowse link
G HEXB hexosaminidase subunit beta IAGP HPO ORPHA:309169 NCBI chr 5:74,640,023...74,721,288
Ensembl chr 5:74,640,023...74,722,647 		JBrowse link
G HHAT hedgehog acyltransferase IAGP HPO OMIM:600092 NCBI chr 1:210,327,328...210,676,290
Ensembl chr 1:210,328,252...210,676,296 		JBrowse link
G HINT1 histidine triad nucleotide binding protein 1 IAGP HPO OMIM:137200 ORPHA:324442 NCBI chr 5:131,159,027...131,165,256
Ensembl chr 5:131,155,383...131,224,468 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase IAGP HPO OMIM:620375 NCBI chr 5:75,336,529...75,362,116
Ensembl chr 5:75,336,329...75,364,001 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:615424 ORPHA:52430 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 IAGP HPO OMIM:615422 ORPHA:52430 NCBI chr 7:26,189,927...26,200,746
Ensembl chr 7:26,171,151...26,201,529 		JBrowse link
G HNRNPDL heterogeneous nuclear ribonucleoprotein D like IAGP HPO OMIM:609115 NCBI chr 4:82,422,564...82,430,462
Ensembl chr 4:82,422,565...82,430,462 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO OMIM:255800 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G INF2 inverted formin 2 IAGP HPO OMIM:614455 NCBI chr14:104,689,618...104,722,535
Ensembl chr14:104,681,146...104,722,535 		JBrowse link
G INPP5K inositol polyphosphate-5-phosphatase K IAGP HPO OMIM:617404 NCBI chr17:1,494,577...1,516,612
Ensembl chr17:1,494,577...1,516,742 		JBrowse link
G ISCA1 iron-sulfur cluster assembly 1 IAGP HPO OMIM:617613 NCBI chr 9:86,264,546...86,282,538
Ensembl chr 9:86,264,546...86,283,102 		JBrowse link
G ISCU iron-sulfur cluster assembly enzyme IAGP HPO OMIM:255125 NCBI chr12:108,561,463...108,569,384
Ensembl chr12:108,562,582...108,569,368 		JBrowse link
G ITGA7 integrin subunit alpha 7 IAGP HPO OMIM:613204 NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404 		JBrowse link
G ITGB4 integrin subunit beta 4 IAGP HPO ORPHA:158684 NCBI chr17:75,721,459...75,757,818
Ensembl chr17:75,721,328...75,757,818 		JBrowse link
G JAG2 jagged canonical Notch ligand 2 IAGP HPO OMIM:619566 NCBI chr14:105,140,995...105,168,776
Ensembl chr14:105,140,982...105,168,824 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO OMIM:609273 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO OMIM:160120 ORPHA:972 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171436 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KY kyphoscoliosis peptidase IAGP HPO OMIM:617114 NCBI chr 3:134,599,923...134,651,022
Ensembl chr 3:134,599,923...134,651,636 		JBrowse link
G LAMA1 laminin subunit alpha 1 IAGP HPO ORPHA:370022 NCBI chr18:6,941,742...7,117,797
Ensembl chr18:6,941,742...7,117,797 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:9674786 PMID:18700894 PMID:25741868 PMID:28445022 PMID:28492532 More... OMIM:607855 OMIM:618138 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LAMP2 lysosomal associated membrane protein 2 IAGP HPO OMIM:300257 NCBI chr  X:120,426,148...120,469,349
Ensembl chr  X:120,426,148...120,469,365 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 OMIM:608840 OMIM:613154 ORPHA:370968 ORPHA:588 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LDB3 LIM domain binding 3 IAGP HPO OMIM:609452 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,666,785...86,736,072 		JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO OMIM:612933 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425 		JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP HPO OMIM:616827 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP HPO OMIM:615980 ORPHA:435660 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,514...42,427,388 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 OMIM:613205 OMIM:616516 ORPHA:98853 ORPHA:98855 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G LMOD3 leiomodin 3 IAGP HPO ORPHA:171436 NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032 		JBrowse link
G LPIN1 lipin 1 IAGP HPO OMIM:268200 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G LRP12 LDL receptor related protein 12 IAGP HPO OMIM:164310 NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258 		JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP HPO ORPHA:98896 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G MATR3 matrin 3 IAGP HPO OMIM:606070 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MB myoglobin IAGP HPO OMIM:620286 NCBI chr22:35,606,764...35,623,354
Ensembl chr22:35,606,764...35,637,951 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:614399 OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516 		JBrowse link
G MFN2 mitofusin 2 IAGP HPO OMIM:151800 NCBI chr 1:11,980,444...12,013,508
Ensembl chr 1:11,980,181...12,015,211 		JBrowse link
G MGME1 mitochondrial genome maintenance exonuclease 1 IAGP HPO OMIM:615084 ORPHA:352447 NCBI chr20:17,968,590...17,991,122
Ensembl chr20:17,969,018...17,991,122 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO OMIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MIEF2 mitochondrial elongation factor 2 IAGP HPO OMIM:619024 NCBI chr17:18,260,662...18,266,552
Ensembl chr17:18,260,597...18,266,552 		JBrowse link
G MLIP muscular LMNA interacting protein IAGP HPO OMIM:620138 NCBI chr 6:54,018,970...54,266,280
Ensembl chr 6:53,929,982...54,266,280 		JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO ORPHA:904 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543 		JBrowse link
G MPDU1 mannose-P-dolichol utilization defect 1 IAGP HPO ORPHA:79323 NCBI chr17:7,583,647...7,588,212
Ensembl chr17:7,583,529...7,592,789 		JBrowse link
G MPZ myelin protein zero IAGP HPO ORPHA:101082 NCBI chr 1:161,303,600...161,309,968
Ensembl chr 1:161,304,735...161,309,968 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO OMIM:617675 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:324525 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MVK mevalonate kinase IAGP HPO OMIM:610377 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 OMIM:255160 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYL2 myosin light chain 2 IAGP HPO OMIM:619424 NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYOT myotilin IAGP HPO OMIM:609200 ORPHA:266 ORPHA:98911 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851 		JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:616239 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315 		JBrowse link
G NEB nebulin IAGP HPO ORPHA:171436 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NEFH neurofilament heavy chain IAGP HPO OMIM:616924 NCBI chr22:29,480,218...29,491,390
Ensembl chr22:29,480,218...29,491,390 		JBrowse link
G NEFL neurofilament light chain IAGP HPO OMIM:617882 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
G NFS1 NFS1 cysteine desulfurase IAGP HPO OMIM:619386 NCBI chr20:35,668,052...35,699,352
Ensembl chr20:35,668,052...35,699,355 		JBrowse link
G NOTCH2NLC notch 2 N-terminal like C IAGP HPO OMIM:619473 NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO OMIM:611091 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO OMIM:620235 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO OMIM:300555 OMIM:309000 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase 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 ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO OMIM:615883 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO OMIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386 		JBrowse link
G OXTR oxytocin receptor IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase
ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration		 ClinVar PMID:1146501 PMID:9536092 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 PABPN1 poly(A) binding protein nuclear 1 IAGP HPO OMIM:164300 ORPHA:270 NCBI chr14:23,321,457...23,326,163
Ensembl chr14:23,321,457...23,326,163 		JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 IAGP DNA:SNP:intron: (rs6080699) RGD PMID:20036365 RGD:6483554 NCBI chr20:17,226,107...17,484,578
Ensembl chr20:17,226,107...17,484,578 		JBrowse link
G PDK3 pyruvate dehydrogenase kinase 3 IAGP HPO ORPHA:352675 NCBI chr  X:24,465,286...24,550,466
Ensembl chr  X:24,465,244...24,550,466 		JBrowse link
G PET100 PET100 cytochrome c oxidase chaperone IAGP HPO OMIM:619055 NCBI chr19:7,629,793...7,631,956
Ensembl chr19:7,629,788...7,631,956 		JBrowse link
G PFKM phosphofructokinase, muscle IAGP HPO OMIM:232800 NCBI chr12:48,105,353...48,146,404
Ensembl chr12:48,105,139...48,146,404 		JBrowse link
G PGAM2 phosphoglycerate mutase 2 IAGP HPO OMIM:261670 NCBI chr 7:44,062,727...44,065,567
Ensembl chr 7:44,062,727...44,065,567 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO OMIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 IAGP HPO OMIM:300559 NCBI chr  X:72,578,814...72,714,306
Ensembl chr  X:72,578,814...72,714,319 		JBrowse link
G PHKA2 phosphorylase kinase regulatory subunit alpha 2 IAGP HPO ORPHA:264580 NCBI chr  X:18,892,298...18,984,114
Ensembl chr  X:18,892,298...18,984,114 		JBrowse link
G PHKB phosphorylase kinase regulatory subunit beta IAGP HPO ORPHA:79240 NCBI chr16:47,461,299...47,701,523
Ensembl chr16:47,461,123...47,701,523 		JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP HPO ORPHA:264580 NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:617146 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGY phosphatidylinositol glycan anchor biosynthesis class Y IAGP HPO OMIM:616809 NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776 		JBrowse link
G PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 IAGP HPO ORPHA:64753 NCBI chr17:8,878,916...8,965,707
Ensembl chr17:8,878,911...8,965,712 		JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 IAGP HPO OMIM:619405 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841 		JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:612953 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778 		JBrowse link
G PLEC plectin IAGP HPO OMIM:613723 ORPHA:158684 ORPHA:254361 NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734 		JBrowse link
G PLIN4 perilipin 4 IAGP HPO OMIM:601846 NCBI chr19:4,502,192...4,518,486
Ensembl chr19:4,502,192...4,518,486 		JBrowse link
G PLXNA1 plexin A1 IAGP HPO OMIM:619955 NCBI chr 3:126,983,115...127,037,389
Ensembl chr 3:126,982,693...127,037,389 		JBrowse link
G PNPLA2 patatin like phospholipase domain containing 2 IAGP HPO OMIM:610717 ORPHA:565612 NCBI chr11:818,914...825,573
Ensembl chr11:818,914...825,573 		JBrowse link
G POGLUT1 protein O-glucosyltransferase 1 IAGP HPO OMIM:617232 NCBI chr 3:119,468,963...119,494,708
Ensembl chr 3:119,468,963...119,494,708 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:258450 ORPHA:254886 ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO OMIM:610131 ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO OMIM:253280 OMIM:613151 OMIM:613157 ORPHA:370959 ORPHA:588 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO OMIM:618135 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO OMIM:615249 OMIM:616094 ORPHA:370959 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 OMIM:609308 OMIM:613155 ORPHA:370959 ORPHA:370968 ORPHA:588 ORPHA:86812 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration ClinVar
HPO		 OMIM:236670 OMIM:613150 OMIM:613156 OMIM:613158 ORPHA:206559 ORPHA:370959 ORPHA:370968 ORPHA:588 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PRUNE1 prune exopolyphosphatase 1 IAGP HPO ORPHA:544469 NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP ClinVar Annotator: match by term: Elevated serum creatine phosphokinase ClinVar
HPO		 PMID:28492532 OMIM:232600 ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
G PYROXD1 pyridine nucleotide-disulphide oxidoreductase domain 1 IAGP HPO OMIM:617258 NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250 		JBrowse link
G QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 IAGP HPO OMIM:618835 NCBI chr 6:106,629,578...106,668,417
Ensembl chr 6:106,629,578...106,668,417 		JBrowse link
G RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 IAGP HPO OMIM:615895 NCBI chr20:408,299...432,139
Ensembl chr20:407,498...432,139 		JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458 		JBrowse link
G RILPL1 Rab interacting lysosomal protein like 1 IAGP HPO OMIM:619790 NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO OMIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Increased CPK
ClinVar Annotator: match by term: Elevated serum creatine phosphokinase		 ClinVar
HPO		 PMID:24195946 PMID:25741868 PMID:28259615 PMID:28492532 PMID:30755392 More... OMIM:145600 OMIM:619542 ORPHA:424107 ORPHA:466650 ORPHA:597 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:608390 ORPHA:682 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SETX senataxin IAGP HPO OMIM:606002 ORPHA:64753 NCBI chr 9:132,261,356...132,356,744
Ensembl chr 9:132,261,356...132,354,986 		JBrowse link
G SGCA sarcoglycan alpha IAGP ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration ClinVar
HPO		 PMID:28492532 OMIM:608099 ORPHA:62 NCBI chr17:50,166,005...50,175,928
Ensembl chr17:50,164,214...50,175,928 		JBrowse link
G SGCB sarcoglycan beta IAGP HPO OMIM:604286 ORPHA:119 NCBI chr 4:52,020,706...52,038,299
Ensembl chr 4:52,020,706...52,038,299 		JBrowse link
G SGCD sarcoglycan delta IAGP HPO OMIM:601287 OMIM:606685 NCBI chr 5:155,727,832...156,767,788
Ensembl chr 5:155,870,344...156,767,788 		JBrowse link
G SGCG sarcoglycan gamma IAGP HPO OMIM:253700 ORPHA:353 NCBI chr13:23,160,508...23,325,162
Ensembl chr13:23,180,979...23,325,162 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP HPO OMIM:248800 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557 		JBrowse link
G SLC16A1 solute carrier family 16 member 1 IAGP HPO OMIM:245340 NCBI chr 1:112,911,847...112,956,196
Ensembl chr 1:112,911,847...112,957,593 		JBrowse link
G SLC22A5 solute carrier family 22 member 5 IAGP HPO OMIM:212140 NCBI chr 5:132,369,710...132,395,612
Ensembl chr 5:132,369,710...132,395,613 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO OMIM:212138 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO OMIM:615418 ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382 		JBrowse link
G SLC25A42 solute carrier family 25 member 42 IAGP HPO OMIM:618416 NCBI chr19:19,063,994...19,113,030
Ensembl chr19:19,063,994...19,113,030 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:269 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SPTAN1 spectrin alpha, non-erythrocytic 1 IAGP HPO OMIM:620528 NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662 		JBrowse link
G SQOR sulfide quinone oxidoreductase IAGP HPO OMIM:619221 NCBI chr15:45,631,148...45,691,281
Ensembl chr15:45,631,148...45,691,281 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO OMIM:617158 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G SSUH2 ssu-2 homolog IAGP ClinVar Annotator: match by term: Increased CPK 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 STIM1 stromal interaction molecule 1 IAGP HPO OMIM:160565 OMIM:185070 NCBI chr11:3,854,604...4,093,210
Ensembl chr11:3,854,527...4,093,210 		JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta IAGP HPO OMIM:612073 ORPHA:1933 NCBI chr13:47,942,656...48,001,273
Ensembl chr13:47,745,736...48,037,968 		JBrowse link
G SUOX sulfite oxidase IAGP HPO OMIM:272300 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
G SVIL supervillin IAGP HPO OMIM:619040 NCBI chr10:29,457,338...29,736,936
Ensembl chr10:29,457,338...29,736,959 		JBrowse link
G SYNE1 spectrin repeat containing nuclear envelope protein 1 IAGP HPO OMIM:612998 ORPHA:98853 NCBI chr 6:152,121,687...152,637,362
Ensembl chr 6:152,121,687...152,637,801 		JBrowse link
G SYNE2 spectrin repeat containing nuclear envelope protein 2 IAGP HPO OMIM:612999 ORPHA:98853 NCBI chr14:63,761,596...64,226,449
Ensembl chr14:63,761,899...64,226,433 		JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO OMIM:617389 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040 		JBrowse link
G TANGO2 transport and golgi organization 2 homolog IAGP HPO OMIM:616878 ORPHA:480864 NCBI chr22:20,017,023...20,067,164
Ensembl chr22:20,017,014...20,067,164 		JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO OMIM:617193 ORPHA:496641 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914 		JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791 		JBrowse link
G TCAP titin-cap IAGP ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration ClinVar
HPO		 PMID:25741868 OMIM:601954 NCBI chr17:39,665,349...39,666,554
Ensembl chr17:39,665,349...39,666,554 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO ORPHA:90117 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TIMM22 translocase of inner mitochondrial membrane 22 IAGP HPO OMIM:618851 NCBI chr17:997,129...1,003,671
Ensembl chr17:997,129...1,003,671 		JBrowse link
G TK2 thymidine kinase 2 IAGP HPO OMIM:609560 OMIM:617069 ORPHA:254886 NCBI chr16:66,508,003...66,550,291
Ensembl chr16:66,508,003...66,552,544 		JBrowse link
G TMEM165 transmembrane protein 165 IAGP HPO OMIM:614727 NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397 		JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890 		JBrowse link
G TMEM43 transmembrane protein 43 IAGP HPO ORPHA:98853 NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		JBrowse link
G TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3 IAGP HPO OMIM:617255 NCBI chr12:88,142,307...88,199,887
Ensembl chr12:88,142,296...88,199,887 		JBrowse link
G TNNT1 troponin T1, slow skeletal type IAGP HPO OMIM:620386 NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206 		JBrowse link
G TOP3A DNA topoisomerase III alpha IAGP HPO OMIM:618098 NCBI chr17:18,271,428...18,314,994
Ensembl chr17:18,271,428...18,315,007 		JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 IAGP HPO OMIM:617072 NCBI chr 1:179,882,285...179,920,076
Ensembl chr 1:179,882,042...179,920,077 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171436 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO ORPHA:168486 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448 		JBrowse link
G TRAPPC11 trafficking protein particle complex subunit 11 IAGP HPO OMIM:615356 NCBI chr 4:183,659,293...183,713,589
Ensembl chr 4:183,659,267...183,713,594 		JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L IAGP HPO OMIM:618331 NCBI chr16:88,856,220...88,862,678
Ensembl chr16:88,856,220...88,862,686 		JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO OMIM:254110 ORPHA:1878 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO OMIM:600175 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TSFM Ts translation elongation factor, mitochondrial IAGP HPO OMIM:610505 NCBI chr12:57,782,787...57,802,856
Ensembl chr12:57,782,761...57,808,071 		JBrowse link
G TTN titin IAGP HPO OMIM:603689 OMIM:608807 OMIM:611705 ORPHA:178464 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:616138 ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO OMIM:301830 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 IAGP HPO OMIM:618775 NCBI chr19:29,205,320...29,213,151
Ensembl chr19:29,205,320...29,213,151 		JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO OMIM:604173 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex IAGP HPO OMIM:617054 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
G VAPB VAMP associated protein B and C IAGP HPO ORPHA:209335 NCBI chr20:58,389,229...58,451,101
Ensembl chr20:58,389,229...58,451,101 		JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:167320 OMIM:613954 OMIM:616687 ORPHA:435387 ORPHA:52430 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G VMA21 vacuolar ATPase assembly factor VMA21 IAGP HPO OMIM:310440 NCBI chr  X:151,396,595...151,409,364
Ensembl chr  X:151,396,515...151,409,364 		JBrowse link
G VPS13A vacuolar protein sorting 13 homolog A IAGP HPO OMIM:200150 ORPHA:2388 NCBI chr 9:77,177,534...77,421,537
Ensembl chr 9:77,177,445...77,421,537 		JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112 		JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:620542 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G XK X-linked Kx blood group antigen, Kell and VPS13A binding protein IAGP ClinVar Annotator: match by term: Elevated circulating creatine kinase concentration ClinVar
HPO		 OMIM:300842 NCBI chr  X:37,685,791...37,732,130
Ensembl chr  X:37,685,791...37,732,130 		JBrowse link
Elevated creatine kinase after exercise term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAD9 acyl-CoA dehydrogenase family member 9 IAGP HPO ORPHA:99901 NCBI chr 3:128,879,620...128,913,114
Ensembl chr 3:128,879,596...128,924,003 		JBrowse link
G ALDOA aldolase, fructose-bisphosphate A IAGP HPO ORPHA:57 NCBI chr16:30,064,279...30,070,420
Ensembl chr16:30,064,164...30,070,457 		JBrowse link
G AMPD1 adenosine monophosphate deaminase 1 IAGP HPO ORPHA:45 NCBI chr 1:114,673,098...114,695,546
Ensembl chr 1:114,673,090...114,695,618 		JBrowse link
G AMPD3 adenosine monophosphate deaminase 3 IAGP HPO ORPHA:45 NCBI chr11:10,450,388...10,507,579
Ensembl chr11:10,308,313...10,507,579 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:423 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CAV3 caveolin 3 IAGP HPO ORPHA:206599 NCBI chr 3:8,733,802...8,746,758
Ensembl chr 3:8,733,802...8,841,808 		JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:352470 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO ORPHA:263494 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G LDHA lactate dehydrogenase A IAGP HPO ORPHA:284426 NCBI chr11:18,394,563...18,408,425
Ensembl chr11:18,394,560...18,408,425 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP HPO ORPHA:423 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP HPO ORPHA:159 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
Extremely elevated creatine kinase term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNC filamin C IAGP HPO ORPHA:171445 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO OMIM:615673 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G NEFL neurofilament light chain IAGP HPO ORPHA:99939 NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721 		JBrowse link
Highly elevated creatine kinase term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP HPO ORPHA:399096 NCBI chr11:22,192,473...22,283,357
Ensembl chr11:21,782,659...22,283,567 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:352479 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Highly elevated creatine kinase ClinVar NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609 		JBrowse link
G DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory IAGP HPO OMIM:618992 NCBI chr 1:155,139,891...155,140,531
Ensembl chr 1:155,139,891...155,140,595 		JBrowse link
G FDX2 ferredoxin 2 IAGP HPO OMIM:251900 NCBI chr19:10,310,045...10,316,015
Ensembl chr19:10,309,916...10,316,015 		JBrowse link
G LAMA2 laminin subunit alpha 2 IAGP HPO ORPHA:258 NCBI chr 6:128,883,138...129,516,566
Ensembl chr 6:128,883,138...129,516,566 		JBrowse link
G LPIN1 lipin 1 IAGP HPO ORPHA:99845 NCBI chr 2:11,677,544...11,827,409
Ensembl chr 2:11,677,595...11,827,409 		JBrowse link
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP HPO ORPHA:99845 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-CO3 mitochondrially encoded cytochrome c oxidase III IAGP HPO ORPHA:99845 NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP HPO ORPHA:99845 NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		JBrowse link
G POPDC3 popeye domain containing 3 IAGP HPO OMIM:618848 NCBI chr 6:105,157,900...105,180,014
Ensembl chr 6:105,157,900...105,180,014 		JBrowse link
G PYGM glycogen phosphorylase, muscle associated IAGP HPO ORPHA:368 NCBI chr11:64,746,389...64,760,715
Ensembl chr11:64,746,389...64,759,974 		JBrowse link
Mildly elevated creatine kinase term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTA1 actin alpha 1, skeletal muscle IAGP HPO OMIM:161800 OMIM:620265 ORPHA:171439 NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104 		JBrowse link
G ADSS1 adenylosuccinate synthase 1 IAGP HPO OMIM:617030 NCBI chr14:104,724,229...104,747,325
Ensembl chr14:104,724,174...104,747,325 		JBrowse link
G ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase IAGP HPO OMIM:616228 NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942 		JBrowse link
G BIN1 bridging integrator 1 IAGP HPO ORPHA:169189 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:681 ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451 		JBrowse link
G CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 IAGP HPO ORPHA:457050 NCBI chr22:23,765,834...23,767,972
Ensembl chr22:23,765,834...23,767,972 		JBrowse link
G COL12A1 collagen type XII alpha 1 chain IAGP HPO ORPHA:536516 NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267 		JBrowse link
G COL25A1 collagen type XXV alpha 1 chain IAGP HPO ORPHA:1143 NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752 		JBrowse link
G COL6A1 collagen type VI alpha 1 chain IAGP HPO OMIM:254090 NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO OMIM:600969 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:370980 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G DNM2 dynamin 2 IAGP HPO OMIM:160150 ORPHA:169189 NCBI chr19:10,718,079...10,831,903
Ensembl chr19:10,718,055...10,833,488 		JBrowse link
G DOK7 docking protein 7 IAGP HPO OMIM:254300 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G ERGIC1 endoplasmic reticulum-golgi intermediate compartment 1 IAGP HPO ORPHA:1143 NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:370980 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:370980 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLNC filamin C IAGP HPO OMIM:614065 ORPHA:171445 NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GFPT1 glutamine--fructose-6-phosphate transaminase 1 IAGP HPO OMIM:610542 NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250 		JBrowse link
G GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase IAGP HPO ORPHA:602 NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042 		JBrowse link
G HADH hydroxyacyl-CoA dehydrogenase IAGP HPO ORPHA:71212 NCBI chr 4:107,989,889...108,035,171
Ensembl chr 4:107,989,714...108,035,241 		JBrowse link
G HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 IAGP HPO OMIM:610099 NCBI chr12:54,280,726...54,287,087
Ensembl chr12:54,280,193...54,287,088 		JBrowse link
G KBTBD13 kelch repeat and BTB domain containing 13 IAGP HPO ORPHA:171439 NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP HPO ORPHA:681 NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO ORPHA:171439 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G LMNA lamin A/C IAGP HPO OMIM:181350 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MATR3 matrin 3 IAGP HPO ORPHA:600 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MICU1 mitochondrial calcium uptake 1 IAGP HPO ORPHA:401768 NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131 		JBrowse link
G MPV17 mitochondrial inner membrane protein MPV17 IAGP HPO OMIM:618400 NCBI chr 2:27,309,492...27,323,097
Ensembl chr 2:27,309,492...27,325,680 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951 		JBrowse link
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP HPO ORPHA:254864 NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:663 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP HPO ORPHA:663 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO ORPHA:663 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO ORPHA:663 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G MTMR14 myotubularin related protein 14 IAGP HPO OMIM:160150 ORPHA:169189 NCBI chr 3:9,649,505...9,702,393
Ensembl chr 3:9,649,433...9,702,393 		JBrowse link
G MYF6 myogenic factor 6 IAGP HPO ORPHA:169189 NCBI chr12:80,707,634...80,709,474
Ensembl chr12:80,707,634...80,709,474 		JBrowse link
G MYH14 myosin heavy chain 14 IAGP HPO OMIM:614369 ORPHA:397744 NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		JBrowse link
G MYH7 myosin heavy chain 7 IAGP HPO OMIM:160500 OMIM:608358 ORPHA:59135 NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660 		JBrowse link
G MYPN myopalladin IAGP HPO ORPHA:171439 NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 ORPHA:171439 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G PEX6 peroxisomal biogenesis factor 6 IAGP HPO ORPHA:95433 NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181 		JBrowse link
G PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 IAGP HPO OMIM:615376 NCBI chr 1:6,467,122...6,520,092
Ensembl chr 1:6,467,122...6,520,074 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO OMIM:258450 OMIM:607459 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLRMT RNA polymerase mitochondrial IAGP HPO OMIM:619743 NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:370980 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G QRICH1 glutamine rich 1 IAGP HPO OMIM:617982 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Moderately increased serum creatine kinase ClinVar
HPO		 PMID:25741868 PMID:28492532 ORPHA:169189 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273 		JBrowse link
G SCN4A sodium voltage-gated channel alpha subunit 4 IAGP HPO OMIM:620351 ORPHA:681 NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918 		JBrowse link
G SCYL2 SCY1 like pseudokinase 2 IAGP HPO ORPHA:1143 NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715 		JBrowse link
G SQSTM1 sequestosome 1 IAGP HPO ORPHA:603 NCBI chr 5:179,806,393...179,838,078
Ensembl chr 5:179,806,398...179,838,078 		JBrowse link
G TFG trafficking from ER to golgi regulator IAGP HPO OMIM:604484 NCBI chr 3:100,709,290...100,748,967
Ensembl chr 3:100,709,295...100,748,964 		JBrowse link
G TIA1 TIA1 cytotoxic granule associated RNA binding protein IAGP HPO OMIM:604454 ORPHA:603 NCBI chr 2:70,209,444...70,248,793
Ensembl chr 2:70,209,444...70,248,660 		JBrowse link
G TPM2 tropomyosin 2 IAGP HPO ORPHA:171439 NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056 		JBrowse link
G TPM3 tropomyosin 3 IAGP HPO ORPHA:171439 NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648 		JBrowse link
G TRIP4 thyroid hormone receptor interactor 4 IAGP HPO ORPHA:486815 NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP HPO ORPHA:254864 NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
G TTN titin IAGP HPO ORPHA:609 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO OMIM:607459 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO ORPHA:1145 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G VCP valosin containing protein IAGP HPO ORPHA:329478 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668 		JBrowse link
G YME1L1 YME1 like 1 ATPase IAGP HPO OMIM:617302 NCBI chr10:27,110,111...27,154,384
Ensembl chr10:27,110,111...27,155,266 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of metabolism/homeostasis 3685
        Abnormal circulating metabolite concentration 1606
          Abnormal circulating protein concentration 729
            Abnormal circulating enzyme concentration 338
              Abnormal circulating creatine kinase concentration 330
                Elevated circulating creatine kinase concentration 314
                  Elevated creatine kinase after exercise 11
                  Extremely elevated creatine kinase 3
                  Highly elevated creatine kinase 12
                  Mildly elevated creatine kinase 64
paths to the root