Human Phenotype Ontology 
Grandparent Node:
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Abnormality of circulating enzyme level (HP:0011021)help
Parent Node:
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Abnormal circulating creatine kinase concentration (HP:0040081)help
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Elevated circulating creatine kinase concentration (HP:0003236)help
Term ID: 3236
Name: Elevated circulating creatine kinase concentration
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
Definition: An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Comments:
Reference: HP:0003236
Genes and Diseases:
 
       Child Nodes:
........expandMildly elevated creatine phosphokinase (HP:0008180) help
........expandElevated creatine kinase after exercise (HP:0008331) help
........expandHighly elevated creatine phosphokinase (HP:0030234) help
........expandExtremely elevated creatine phosphokinase (HP:0030235) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AHCY CL E G H19188618ORPHA1126343180960
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AHCY CL E G H19188618ORPHA1113343180960
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859206549ORPHA190027337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859206549ORPHA178627337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CASQ1 CL E G H84488635ORPHA1951512114250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CASQ1 CL E G H84488635ORPHA1471512114250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM120515559615903
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHCHD10 CL E G H400916616209Myopathy, isolated mitochondrial, autosomal dominant616209C4015513OMIM123015559615903
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM120515559615903
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM123015559615903
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13351938612395
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM13821938612395
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11772586603432
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA11762586603432
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM117718623606979
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM115618623606979
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL12A1 CL E G H130375840ORPHA116782188120320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL12A1 CL E G H130375840ORPHA113672188120320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM116782188120320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM113672188120320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A1 CL E G H129175840ORPHA113422211120220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A1 CL E G H129175840ORPHA112192211120220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H129275840ORPHA115122212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H129275840ORPHA113702212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A3 CL E G H129375840ORPHA122332213120250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A3 CL E G H129375840ORPHA119712213120250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT2 CL E G H1376228302ORPHA15052330600650
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT2 CL E G H1376228302ORPHA16182330600650
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM16182330600650
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM15052330600650
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM11752389123590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12022389123590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM11752389123590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0CRYAB CL E G H1410613869Fatal infantile hypertonic myofibrillar myopathy613869C3151236OMIM12022389123590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM14672666128239
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DAG1 CL E G H1605613818Limb-girdle muscular dystrophy-dystroglycanopathy, type C9613818C3151184OMIM13762666128239
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM13762666128239
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DAG1 CL E G H1605616538Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9616538C4225291OMIM14672666128239
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H175698896ORPHA163952928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H175698896ORPHA156012928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H175698895ORPHA163952928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H175698895ORPHA156012928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM163952928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM156012928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM163952928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMD CL E G H1756310200Duchenne muscular dystrophy310200C0013264OMIM156012928300377
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMGDH CL E G H29958243343ORPHA18824475605849
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMGDH CL E G H29958243343ORPHA18624475605849
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMGDH CL E G H29958605850Dimethylglycine dehydrogenase deficiency605850C1853892OMIM18624475605849
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DMGDH CL E G H29958605850Dimethylglycine dehydrogenase deficiency605850C1853892OMIM18824475605849
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12232939601810
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNA2 CL E G H1763615156Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6615156C3554599OMIM12902939601810
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM134614888611332
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNAJB6 CL E G H10049603511Limb-girdle muscular dystrophy, type 1E603511C3148763OMIM138314888611332
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM17662974602378
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DNM2 CL E G H1785615368Lethal congenital contracture syndrome 5615368C3809272OMIM16752974602378
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11233006603564
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM11133006603564
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1503007605951
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1593007605951
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DUX4 CL E G H100288687269ORPHA150800606009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM123583097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM121293097603009
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA16573327130160
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA17043327130160
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0EMD CL E G H201098863ORPHA15793331300384
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0EMD CL E G H201098863ORPHA15303331300384
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15303331300384
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0EMD CL E G H2010310300Emery-Dreifuss muscular dystrophy 1, X-linked310300C0751337OMIM15793331300384
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11303354131370
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ENO3 CL E G H2027612932Glycogen storage disease type 13612932C2752027OMIM11573354131370
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM12724200615584
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H227398863ORPHA14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H227398863ORPHA14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14863702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FHL1 CL E G H2273300280Uruguay faciocardiomusculoskeletal syndrome300280C1846010OMIM14373702300163
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H7914734515ORPHA157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147588ORPHA157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H7914734515ORPHA167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147588ORPHA167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM167117997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM157217997606596
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218588ORPHA16793622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218588ORPHA15993622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM16793622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM15993622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM16793622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM15993622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM16793622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM15993622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16793622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15993622607440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FRG1 CL E G H2483269ORPHA11233954601278
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FRG1 CL E G H2483269ORPHA11213954601278
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11233954601278
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM11213954601278
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM117844065606800
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM115924065606800
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925588ORPHA120322932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925363623ORPHA123422932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925363623ORPHA120322932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925588ORPHA123422932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM123422932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615351Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14615351C3809221OMIM120322932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM168223657603824
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM160423657603824
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12524431604027
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12174431604027
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11604659601679
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA11594659601679
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12114661604318
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA12134661604318
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HINT1 CL E G H3094324442ORPHA11144912601314
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HINT1 CL E G H3094324442ORPHA11254912601314
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11555033600124
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPA2B1 CL E G H3181615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2615422C3809468OMIM11265033600124
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM11585037607137
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HNRNPDL CL E G H9987609115Limb-girdle muscular dystrophy, type 1G609115C1836765OMIM12045037607137
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM115333882607875
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM114533882607875
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM110029882611911
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM18229882611911
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154537276614631
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM154937276614631
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154537276614631
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM154937276614631
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM15236143600536
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM16286143600536
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KCNA1 CL E G H3736972ORPHA13906218176260
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KCNA1 CL E G H3736972ORPHA14386218176260
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM127396482156225
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM123276482156225
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215588ORPHA15976511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215588ORPHA15166511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15976511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215613154Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6613154C3150414OMIM15166511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15976511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM15166511603590
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LDB3 CL E G H11155609452Myofibrillar myopathy, ZASP-related609452C1836155OMIM188815710605906
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LDB3 CL E G H11155609452Myofibrillar myopathy, ZASP-related609452C1836155OMIM179615710605906
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11396535150000
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LDHA CL E G H3939612933Glycogen storage disease XI612933C2752022OMIM11326535150000
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11976613601329
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA11966613601329
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM119616084607908
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM116616084607908
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIPE CL E G H3991435660ORPHA1786621151750
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LIPE CL E G H3991435660ORPHA1826621151750
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H400098853ORPHA114866636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H400098855ORPHA114866636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000264ORPHA114866636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H400098853ORPHA113476636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H400098855ORPHA113476636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000264ORPHA113476636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM114866636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM113476636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM114866636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM113476636150330
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM137013345605518
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM132113345605518
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12496912164015
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM12996912164015
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MGME1 CL E G H92667352447ORPHA17516205615076
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MGME1 CL E G H92667352447ORPHA16916205615076
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM17516205615076
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM16916205615076
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM11351530605084
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM11011530605084
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MPZ CL E G H4359101082ORPHA15227225159440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MPZ CL E G H4359101082ORPHA14937225159440
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TF CL E G H4558550ORPHA17481590070
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TH CL E G H4564550ORPHA17487590040
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TQ CL E G H4572550ORPHA17495590030
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MT-TW CL E G H4578550ORPHA17501590095
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14017530251170
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM13717530251170
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625437572ORPHA132927577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625437572ORPHA129607577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM132927577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM129607577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM132927577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYH7 CL E G H4625608358Myosin storage myopathy608358C1842160OMIM129607577160760
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H949998911ORPHA126712399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H949998911ORPHA124612399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499266ORPHA126712399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499266ORPHA124612399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM126712399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM124612399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM126712399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM124612399604103
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM116326274612803
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM118126274612803
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0NOTCH3 CL E G H4854136ORPHA19467883600276
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0NOTCH3 CL E G H4854136ORPHA18607883600276
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0OCRL CL E G H4952300555Dent disease 2300555C1845167OMIM14758108300535
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0OCRL CL E G H4952300555Dent disease 2300555C1845167OMIM14258108300535
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PABPN1 CL E G H8106270ORPHA1618565602279
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PGAM2 CL E G H5224261670Glycogen storage disease type X261670C0268149OMIM11018889612931
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PGAM2 CL E G H5224261670Glycogen storage disease type X261670C0268149OMIM1958889612931
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM13848925311870
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM13558925311870
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM15139039603604
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLA2G6 CL E G H8398612953Parkinson disease 14612953C2751842OMIM14319039603604
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLEC CL E G H5339254361ORPHA133559069601282
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLEC CL E G H5339254361ORPHA138429069601282
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM133559069601282
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM138429069601282
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POGLUT1 CL E G H56983617232Muscular dystrophy, limb-girdle, type 2z617232C4310660OMIM18922954615618
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POGLUT1 CL E G H56983617232Muscular dystrophy, limb-girdle, type 2z617232C4310660OMIM18122954615618
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM117129179174763
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM114709179174763
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM11339180604983
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POLG2 CL E G H11232610131Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4610131C1864668OMIM12049180604983
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624588ORPHA166219139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624588ORPHA179719139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM166219139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM179719139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM166219139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624613157Limb-girdle muscular dystrophy-dystroglycanopathy, type C3613157C3150417OMIM179719139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM122426267615247
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM119226267615247
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H1058586812ORPHA16869202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H1058586812ORPHA16099202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585588ORPHA16869202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585588ORPHA16099202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16099202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM16869202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16869202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM16099202607423
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954588ORPHA160419743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954588ORPHA169119743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM169119743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM160419743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM169119743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM160419743607439
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PYGM CL E G H5837368ORPHA16849726608455
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PYGM CL E G H5837368ORPHA16329726608455
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM131826162617220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0PYROXD1 CL E G H79912617258Myopathy, myofibrillar, 8617258C4310645OMIM122926162617220
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM126315864610924
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM131215864610924
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11749970600404
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA11759970600404
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RYR1 CL E G H6261145600Malignant hyperthermia, susceptibility to, 1145600CN031421OMIM1460410483180901
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0RYR1 CL E G H6261145600Malignant hyperthermia, susceptibility to, 1145600CN031421OMIM1410110483180901
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SCN4A CL E G H6329682ORPHA1108110591603967
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SCN4A CL E G H6329682ORPHA1124110591603967
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM11087445608465
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM1941445608465
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA147410805600119
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCA CL E G H644262COG4 related congenital disorder of glycosylation, autosomal dominantORPHA142210805600119
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM142210805600119
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM147410805600119
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCB CL E G H6443119ORPHA137410806600900
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCB CL E G H6443119ORPHA132710806600900
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCB CL E G H6443604286Limb-girdle muscular dystrophy, type 2E604286C1858593OMIM132710806600900
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCB CL E G H6443604286Limb-girdle muscular dystrophy, type 2E604286C1858593OMIM137410806600900
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM151010807601411
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCD CL E G H6444601287Limb-girdle muscular dystrophy, type 2F601287C1832525OMIM154610807601411
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA145210809608896
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCG CL E G H6445353Kozlowski Warren Fisher syndromeORPHA140910809608896
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM145210809608896
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SGCG CL E G H6445253700Severe autosomal recessive muscular dystrophy of childhood - North African type253700C0410173OMIM140910809608896
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM121724624608005
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM120624624608005
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SLC16A1 CL E G H6566245340Erythrocyte lactate transporter defect245340C1855577OMIM114810922600682
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SLC16A1 CL E G H6566245340Erythrocyte lactate transporter defect245340C1855577OMIM113310922600682
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11341421613698
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM11181421613698
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SMCHD1 CL E G H23347269ORPHA172429090614982
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SMCHD1 CL E G H23347269ORPHA185929090614982
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM147311280601530
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SQSTM1 CL E G H8878617158Distal myopathy with rimmed vacuoles617158CN239822OMIM138311280601530
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM145211386605921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM137911386605921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SUCLA2 CL E G H88031933ORPHA124411448603921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SUCLA2 CL E G H88031933ORPHA127711448603921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM127711448603921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM124411448603921
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE1 CL E G H2334598853ORPHA1417017089608441
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE1 CL E G H2334598853ORPHA1364117089608441
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1417017089608441
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1364117089608441
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE2 CL E G H2322498853ORPHA1222217084608442
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE2 CL E G H2322498853ORPHA1187517084608442
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1187517084608442
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1222217084608442
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM190911503604297
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0SYNJ1 CL E G H8867617389Epileptic encephalopathy, early infantile, 53617389C4479313OMIM173011503604297
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM155025439616830
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM148025439616830
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116211586605842
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA116111586605842
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM122611610604488
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TCAP CL E G H8557601954Limb-girdle muscular dystrophy, type 2G601954C1866008OMIM120011610604488
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM129911831188250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM123011831188250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM129911831188250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM123011831188250
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM110830760614726
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM19130760614726
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TMEM43 CL E G H7918898853ORPHA165328472612048
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TMEM43 CL E G H7918898853ORPHA158528472612048
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRIM32 CL E G H229541878Chromosome 1, uniparental disomy 1q12 q21CN035970ORPHA148216380602290
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRIM32 CL E G H229541878Chromosome 1, uniparental disomy 1q12 q21CN035970ORPHA141016380602290
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM148216380602290
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRIM32 CL E G H22954254110Sarcotubular myopathy254110C0270968OMIM141016380602290
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM170318083605427
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM178118083605427
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM118312367604723
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM124412367604723
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TTN CL E G H7273178464ORPHA11798412403188840
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TTN CL E G H7273178464ORPHA11902812403188840
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11902812403188840
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11798412403188840
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM12341160606075
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM12701160606075
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VCP CL E G H741552430ORPHA139512666601023
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VCP CL E G H741552430ORPHA135612666601023
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM123022082300913
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VMA21 CL E G H203547310440Myopathy, X-linked, with excessive autophagy310440C1839615OMIM122322082300913
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VPS13A CL E G H232302388ORPHA113741908605978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VPS13A CL E G H232302388ORPHA112461908605978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM113741908605978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0VPS13A CL E G H23230200150Choreoacanthocytosis200150C0393576OMIM112461908605978
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM119012811314850
HP:0003236HP:0003236Elevated circulating creatine kinase concentration0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM119512811314850
HP:0003236HP:0008331Elevated creatine kinase after exercise1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0003236HP:0030234Highly elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0003236HP:0008331Elevated creatine kinase after exercise1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0003236HP:0030234Highly elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0003236HP:0030235Extremely elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0003236HP:0008180Mildly elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1111692609575
HP:0003236HP:0030235Extremely elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0003236HP:0008180Mildly elevated creatine kinase1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM197892609575
HP:0003236HP:0030235Extremely elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003236HP:0008180Mildly elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003236HP:0030235Extremely elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003236HP:0008180Mildly elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003236HP:0008331Elevated creatine kinase after exercise1ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003236HP:0030234Highly elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1362129102610
HP:0003236HP:0008331Elevated creatine kinase after exercise1ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003236HP:0030234Highly elevated creatine kinase1ACTA1 CL E G H5897240ORPHA1325129102610
HP:0003236HP:0030235Extremely elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0003236HP:0008180Mildly elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0003236HP:0030235Extremely elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0003236HP:0008180Mildly elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0003236HP:0008331Elevated creatine kinase after exercise1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0003236HP:0030234Highly elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11529321610860
HP:0003236HP:0008331Elevated creatine kinase after exercise1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0003236HP:0030234Highly elevated creatine kinase1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM11299321610860
HP:0003236HP:0030235Extremely elevated creatine kinase1AHCY CL E G H19188618ORPHA1126343180960
HP:0003236HP:0008180Mildly elevated creatine kinase1AHCY CL E G H19188618ORPHA1126343180960
HP:0003236HP:0030235Extremely elevated creatine kinase1AHCY CL E G H19188618ORPHA1113343180960
HP:0003236HP:0008180Mildly elevated creatine kinase1AHCY CL E G H19188618ORPHA1113343180960
HP:0003236HP:0008331Elevated creatine kinase after exercise1AHCY CL E G H19188618ORPHA1126343180960
HP:0003236HP:0030234Highly elevated creatine kinase1AHCY CL E G H19188618ORPHA1126343180960
HP:0003236HP:0008331Elevated creatine kinase after exercise1AHCY CL E G H19188618ORPHA1113343180960
HP:0003236HP:0030234Highly elevated creatine kinase1AHCY CL E G H19188618ORPHA1113343180960
HP:0003236HP:0008331Elevated creatine kinase after exercise1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0003236HP:0030234Highly elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0003236HP:0030235Extremely elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0003236HP:0008180Mildly elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0003236HP:0030235Extremely elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0003236HP:0008180Mildly elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14138768300169
HP:0003236HP:0008331Elevated creatine kinase after exercise1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0003236HP:0030234Highly elevated creatine kinase1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM14508768300169
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859206549ORPHA178627337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859206549ORPHA178627337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859206549ORPHA190027337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859206549ORPHA190027337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859206549ORPHA178627337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859206549ORPHA178627337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859206549ORPHA190027337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859206549ORPHA190027337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003236HP:0008180Mildly elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM178627337608662
HP:0003236HP:0008331Elevated creatine kinase after exercise1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003236HP:0030234Highly elevated creatine kinase1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM190027337608662
HP:0003236HP:0030235Extremely elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0003236HP:0008180Mildly elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0003236HP:0008331Elevated creatine kinase after exercise1AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0003236HP:0030234Highly elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0003236HP:0008331Elevated creatine kinase after exercise1AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0003236HP:0030234Highly elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0003236HP:0030235Extremely elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0003236HP:0008180Mildly elevated creatine kinase1AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0003236HP:0030235Extremely elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003236HP:0008180Mildly elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003236HP:0008331Elevated creatine kinase after exercise1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003236HP:0030234Highly elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003236HP:0008331Elevated creatine kinase after exercise1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003236HP:0030234Highly elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1479644313700
HP:0003236HP:0030235Extremely elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003236HP:0008180Mildly elevated creatine kinase1AR CL E G H367313200Bulbo-spinal atrophy X-linked313200C1839259OMIM1525644313700
HP:0003236HP:0008331Elevated creatine kinase after exercise1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003236HP:0030234Highly elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003236HP:0008331Elevated creatine kinase after exercise1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003236HP:0030234Highly elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003236HP:0030235Extremely elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003236HP:0008180Mildly elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0003236HP:0030235Extremely elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003236HP:0008180Mildly elevated creatine kinase1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0003236HP:0030235Extremely elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0003236HP:0008180Mildly elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0003236HP:0008331Elevated creatine kinase after exercise1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0003236HP:0030234Highly elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0003236HP:0008331Elevated creatine kinase after exercise1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0003236HP:0030234Highly elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA134328596610194
HP:0003236HP:0030235Extremely elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0003236HP:0008180Mildly elevated creatine kinase1B3GALNT2 CL E G H148789588ORPHA141128596610194
HP:0003236HP:0030235Extremely elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003236HP:0008180Mildly elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003236HP:0008331Elevated creatine kinase after exercise1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003236HP:0030234Highly elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003236HP:0008331Elevated creatine kinase after exercise1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003236HP:0030234Highly elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM134328596610194
HP:0003236HP:0030235Extremely elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003236HP:0008180Mildly elevated creatine kinase1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM141128596610194
HP:0003236HP:0008331Elevated creatine kinase after exercise1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0003236HP:0030234Highly elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0003236HP:0030235Extremely elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0003236HP:0008180Mildly elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0003236HP:0030235Extremely elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0003236HP:0008180Mildly elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1141924137060
HP:0003236HP:0008331Elevated creatine kinase after exercise1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0003236HP:0030234Highly elevated creatine kinase1B4GALT1 CL E G H2683607091Congenital disorder of glycosylation type 2D607091C1846816OMIM1146924137060
HP:0003236HP:0030235Extremely elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003236HP:0008180Mildly elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003236HP:0008331Elevated creatine kinase after exercise1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003236HP:0030234Highly elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003236HP:0008331Elevated creatine kinase after exercise1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003236HP:0030234Highly elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM112215685605517
HP:0003236HP:0030235Extremely elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003236HP:0008180Mildly elevated creatine kinase1B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM115115685605517
HP:0003236HP:0008331Elevated creatine kinase after exercise1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003236HP:0030234Highly elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003236HP:0030235Extremely elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003236HP:0008180Mildly elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003236HP:0030235Extremely elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003236HP:0008180Mildly elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1603939603883
HP:0003236HP:0008331Elevated creatine kinase after exercise1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003236HP:0030234Highly elevated creatine kinase1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1738939603883
HP:0003236HP:0008331Elevated creatine kinase after exercise1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003236HP:0030234Highly elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003236HP:0030235Extremely elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003236HP:0008180Mildly elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003236HP:0030235Extremely elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003236HP:0008180Mildly elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1191961605681
HP:0003236HP:0008331Elevated creatine kinase after exercise1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003236HP:0030234Highly elevated creatine kinase1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA1192961605681
HP:0003236HP:0030234Highly elevated creatine kinase1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003236HP:0030235Extremely elevated creatine kinase1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003236HP:0008331Elevated creatine kinase after exercise1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003236HP:0008180Mildly elevated creatine kinase1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003236HP:0008331Elevated creatine kinase after exercise1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003236HP:0030234Highly elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003236HP:0030235Extremely elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003236HP:0008180Mildly elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003236HP:0030235Extremely elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003236HP:0008180Mildly elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0003236HP:0008331Elevated creatine kinase after exercise1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003236HP:0030234Highly elevated creatine kinase1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0003236HP:0030235Extremely elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003236HP:0008180Mildly elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003236HP:0030235Extremely elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003236HP:0008180Mildly elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003236HP:0008331Elevated creatine kinase after exercise1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003236HP:0030234Highly elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1461243601269
HP:0003236HP:0008331Elevated creatine kinase after exercise1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003236HP:0030234Highly elevated creatine kinase1C1QBP CL E G H708617713COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33617713C4540209OMIM1431243601269
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003236HP:0030234Highly elevated creatine kinase1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003236HP:0030234Highly elevated creatine kinase1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003236HP:0030235Extremely elevated creatine kinase1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003236HP:0008180Mildly elevated creatine kinase1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003236HP:0030235Extremely elevated creatine kinase1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003236HP:0008180Mildly elevated creatine kinase1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003236HP:0030235Extremely elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003236HP:0008180Mildly elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003236HP:0030235Extremely elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003236HP:0008180Mildly elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003236HP:0030234Highly elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM111421480114240
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003236HP:0030234Highly elevated creatine kinase1CAPN3 CL E G H825253600Limb-girdle muscular dystrophy, type 2A253600C1869123OMIM110471480114240
HP:0003236HP:0030234Highly elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1951512114250
HP:0003236HP:0008331Elevated creatine kinase after exercise1CASQ1 CL E G H84488635ORPHA1951512114250
HP:0003236HP:0030234Highly elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1471512114250
HP:0003236HP:0008331Elevated creatine kinase after exercise1CASQ1 CL E G H84488635ORPHA1471512114250
HP:0003236HP:0008180Mildly elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1951512114250
HP:0003236HP:0030235Extremely elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1951512114250
HP:0003236HP:0008180Mildly elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1471512114250
HP:0003236HP:0030235Extremely elevated creatine kinase1CASQ1 CL E G H84488635ORPHA1471512114250
HP:0003236HP:0008180Mildly elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003236HP:0030235Extremely elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003236HP:0030234Highly elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003236HP:0008331Elevated creatine kinase after exercise1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003236HP:0030234Highly elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003236HP:0008331Elevated creatine kinase after exercise1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003236HP:0030235Extremely elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003236HP:0008180Mildly elevated creatine kinase1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13351529601253
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859614321Distal myopathy, Tateyama type614321C3280443OMIM13541529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13541529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859123320Elevated serum creatine phosphokinase123320C0241005OMIM13351529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003236HP:0030234Highly elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13351529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003236HP:0008180Mildly elevated creatine kinase1CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM13541529601253
HP:0003236HP:0030235Extremely elevated creatine kinase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003236HP:0008180Mildly elevated creatine kinase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003236HP:0030234Highly elevated creatine kinase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003236HP:0008331Elevated creatine kinase after exercise1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003236HP:0030234Highly elevated creatine kinase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003236HP:0030235Extremely elevated creatine kinase1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003236HP:0008180Mildly elevated creatine kinase1CAVIN1 CL E G H284119