Human Phenotype Ontology 
Grandparent Node:
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Abnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
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Abnormal circulating protein concentration (HP:0010876)help
..Starting node
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Abnormality of circulating enzyme level (HP:0011021)help
Term ID: 11021
Name: Abnormality of circulating enzyme level
Synonym:
Definition:
Comments:
Reference: HP:0011021
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal levels of creatine kinase in blood (HP:0040081) help
................... HP:0003236 Elevated serum creatine phosphokinase

 Sister Nodes: 
..expandAbnormal B-type natriuretic peptide level (HP:0031138) help
..expandAbnormal circulating albumin concentration (HP:0012116) help
..expandAbnormal circulating apolipoprotein concentration (HP:0025201) help
..expandAbnormal circulating beta globulin level (HP:0025465) help
..expandAbnormal circulating beta-C-terminal telopeptide concentration (HP:0031424) help
..expandAbnormal circulating thyroglobulin level (HP:0025483) help
..expandAbnormal hepcidin level (HP:0031875) help
..expandAbnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034) help
..expandAbnormal levels of alpha-fetoprotein (HP:0045056) help
..expandAbnormal retinol-binding protein level (HP:0031031) help
..expandAbnormality of the kinin-kallikrein system (HP:0005559) help
..expandDecreased prealbumin level (HP:0031085) help
..expandElevated carcinoembryonic antigen level (HP:0031029) help
..expandElevated carcinoma antigen 125 level (HP:0031030) help
..expandElevated circulating C-reactive protein concentration (HP:0011227) help
..expandElevated prostate-specific antigen level (HP:0025020) help
..expandHyperpepsinogenemia I (HP:0003238) help
..expandHyperproteinemia (HP:0002152) help
..expandHypoproteinemia (HP:0003075) help
..expandIncreased circulating thyroxine-binding globulin level (HP:0031222) help
..expandReduced growth-hormone binding protein level (HP:0031036) help
..expandReduced insulin-like factor 3 level (HP:0031037) help
..expandReduced sex -hormone binding protein level (HP:0031419) help
..expandReduced thyroxin-binding globulin (HP:0012509) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011021HP:0011021Abnormality of circulating enzyme level0AASS CL E G H1015717366ORPHA:3124SaccharopinuriaHP:0040281 - Very frequent15
HP:0011021HP:0011021Abnormality of circulating enzyme level0ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0011021HP:0011021Abnormality of circulating enzyme level0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0011021HP:0011021Abnormality of circulating enzyme level0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0011021HP:0011021Abnormality of circulating enzyme level0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0011021HP:0011021Abnormality of circulating enzyme level0ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0011021HP:0011021Abnormality of circulating enzyme level0AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0011021HP:0011021Abnormality of circulating enzyme level0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040281 - Very frequent260
HP:0011021HP:0011021Abnormality of circulating enzyme level0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiency31
HP:0011021HP:0011021Abnormality of circulating enzyme level0AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome60
HP:0011021HP:0011021Abnormality of circulating enzyme level0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0011021HP:0011021Abnormality of circulating enzyme level0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0011021HP:0011021Abnormality of circulating enzyme level0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0011021HP:0011021Abnormality of circulating enzyme level0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0011021HP:0011021Abnormality of circulating enzyme level0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 1446
HP:0011021HP:0011021Abnormality of circulating enzyme level0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0011021HP:0011021Abnormality of circulating enzyme level0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011021HP:0011021Abnormality of circulating enzyme level0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0011021HP:0011021Abnormality of circulating enzyme level0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0011021HP:0011021Abnormality of circulating enzyme level0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0011021HP:0011021Abnormality of circulating enzyme level0ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011021HP:0011021Abnormality of circulating enzyme level0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain disease43
HP:0011021HP:0011021Abnormality of circulating enzyme level0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0011021HP:0011021Abnormality of circulating enzyme level0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndrome43
HP:0011021HP:0011021Abnormality of circulating enzyme level0B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0011021HP:0011021Abnormality of circulating enzyme level0B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID85
HP:0011021HP:0011021Abnormality of circulating enzyme level0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0011021HP:0011021Abnormality of circulating enzyme level0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndrome17
HP:0011021HP:0011021Abnormality of circulating enzyme level0BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0011021HP:0011021Abnormality of circulating enzyme level0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0011021HP:0011021Abnormality of circulating enzyme level0BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0011021HP:0011021Abnormality of circulating enzyme level0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0011021HP:0011021Abnormality of circulating enzyme level0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0011021HP:0011021Abnormality of circulating enzyme level0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0011021HP:0011021Abnormality of circulating enzyme level0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0011021HP:0011021Abnormality of circulating enzyme level0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0011021HP:0011021Abnormality of circulating enzyme level0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0011021HP:0011021Abnormality of circulating enzyme level0CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0011021HP:0011021Abnormality of circulating enzyme level0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4323
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0011021HP:0011021Abnormality of circulating enzyme level0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates5
HP:0011021HP:0011021Abnormality of circulating enzyme level0CASQ1 CL E G H8441512ORPHA:88635Vacuolar myopathy with sarcoplasmic reticulum protein aggregates5
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAV3 CL E G H8591529ORPHA:206599Isolated asymptomatic elevation of creatine phosphokinase148
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0011021HP:0011021Abnormality of circulating enzyme level0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0011021HP:0011021Abnormality of circulating enzyme level0CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0011021HP:0011021Abnormality of circulating enzyme level0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0011021HP:0011021Abnormality of circulating enzyme level0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0011021HP:0011021Abnormality of circulating enzyme level0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0011021HP:0011021Abnormality of circulating enzyme level0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011021HP:0011021Abnormality of circulating enzyme level0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0011021HP:0011021Abnormality of circulating enzyme level0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0011021HP:0011021Abnormality of circulating enzyme level0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0011021HP:0011021Abnormality of circulating enzyme level0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0011021HP:0011021Abnormality of circulating enzyme level0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0011021HP:0011021Abnormality of circulating enzyme level0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0011021HP:0011021Abnormality of circulating enzyme level0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0011021HP:0011021Abnormality of circulating enzyme level0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndrome193
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0011021HP:0011021Abnormality of circulating enzyme level0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0011021HP:0011021Abnormality of circulating enzyme level0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0011021HP:0011021Abnormality of circulating enzyme level0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0011021Abnormality of circulating enzyme level0COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011021HP:0011021Abnormality of circulating enzyme level0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011021HP:0011021Abnormality of circulating enzyme level0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency99
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic form101
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0011021HP:0011021Abnormality of circulating enzyme level0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRYAB CL E G H14102389OMIM:615184Cardiomyopathy, dilated, 1ii46
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0011021HP:0011021Abnormality of circulating enzyme level0CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related46
HP:0011021HP:0011021Abnormality of circulating enzyme level0CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0011021HP:0011021Abnormality of circulating enzyme level0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0011021HP:0011021Abnormality of circulating enzyme level0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0011021HP:0011021Abnormality of circulating enzyme level0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0011021HP:0011021Abnormality of circulating enzyme level0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0011021HP:0011021Abnormality of circulating enzyme level0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndrome108
HP:0011021HP:0011021Abnormality of circulating enzyme level0DCXR CL E G H5118118985ORPHA:2843PentosuriaHP:0040281 - Very frequent2
HP:0011021HP:0011021Abnormality of circulating enzyme level0DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0011021HP:0011021Abnormality of circulating enzyme level0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 457
HP:0011021HP:0011021Abnormality of circulating enzyme level0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophy1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928OMIM:302045Cardiomyopathy, dilated, 3B1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophy1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMGDH CL E G H2995824475ORPHA:243343Dimethylglycine dehydrogenase deficiency27
HP:0011021HP:0011021Abnormality of circulating enzyme level0DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0011021HP:0011021Abnormality of circulating enzyme level0DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophy79
HP:0011021HP:0011021Abnormality of circulating enzyme level0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0011021HP:0011021Abnormality of circulating enzyme level0DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0011021HP:0011021Abnormality of circulating enzyme level0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0011021HP:0011021Abnormality of circulating enzyme level0DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0011021HP:0011021Abnormality of circulating enzyme level0DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0011021HP:0011021Abnormality of circulating enzyme level0DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0011021HP:0011021Abnormality of circulating enzyme level0DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophy
HP:0011021HP:0011021Abnormality of circulating enzyme level0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0011021HP:0011021Abnormality of circulating enzyme level0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0011021HP:0011021Abnormality of circulating enzyme level0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0011021HP:0011021Abnormality of circulating enzyme level0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0011021HP:0011021Abnormality of circulating enzyme level0DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset600
HP:0011021HP:0011021Abnormality of circulating enzyme level0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0011021HP:0011021Abnormality of circulating enzyme level0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0011021HP:0011021Abnormality of circulating enzyme level0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0011021HP:0011021Abnormality of circulating enzyme level0ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII34
HP:0011021HP:0011021Abnormality of circulating enzyme level0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0011021HP:0011021Abnormality of circulating enzyme level0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0011021Abnormality of circulating enzyme level0FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0011021HP:0011021Abnormality of circulating enzyme level0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0011021HP:0011021Abnormality of circulating enzyme level0FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain disease157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndrome157
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain disease184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndrome184
HP:0011021HP:0011021Abnormality of circulating enzyme level0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency18
HP:0011021HP:0011021Abnormality of circulating enzyme level0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant197
HP:0011021HP:0011021Abnormality of circulating enzyme level0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4197
HP:0011021HP:0011021Abnormality of circulating enzyme level0FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophy1
HP:0011021HP:0011021Abnormality of circulating enzyme level0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0011021HP:0011021Abnormality of circulating enzyme level0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0011021HP:0011021Abnormality of circulating enzyme level0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0011021HP:0011021Abnormality of circulating enzyme level0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0011021HP:0011021Abnormality of circulating enzyme level0GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0011021HP:0011021Abnormality of circulating enzyme level0GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0011021HP:0011021Abnormality of circulating enzyme level0GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011021HP:0011021Abnormality of circulating enzyme level0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0011021HP:0011021Abnormality of circulating enzyme level0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0011021HP:0011021Abnormality of circulating enzyme level0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011021HP:0011021Abnormality of circulating enzyme level0GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain disease34
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1434
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0011021HP:0011021Abnormality of circulating enzyme level0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1434
HP:0011021HP:0011021Abnormality of circulating enzyme level0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0011021HP:0011021Abnormality of circulating enzyme level0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0011021HP:0011021Abnormality of circulating enzyme level0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0011021HP:0011021Abnormality of circulating enzyme level0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0011021HP:0011021Abnormality of circulating enzyme level0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0011021HP:0011021Abnormality of circulating enzyme level0HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0011021HP:0011021Abnormality of circulating enzyme level0HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0011021HP:0011021Abnormality of circulating enzyme level0HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0011021HP:0011021Abnormality of circulating enzyme level0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0011021HP:0011021Abnormality of circulating enzyme level0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0011021HP:0011021Abnormality of circulating enzyme level0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0011021HP:0011021Abnormality of circulating enzyme level0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0011021HP:0011021Abnormality of circulating enzyme level0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0011021HP:0011021Abnormality of circulating enzyme level0HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 25
HP:0011021HP:0011021Abnormality of circulating enzyme level0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0011021HP:0011021Abnormality of circulating enzyme level0HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G5
HP:0011021HP:0011021Abnormality of circulating enzyme level0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0011021HP:0011021Abnormality of circulating enzyme level0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0011021HP:0011021Abnormality of circulating enzyme level0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndrome7
HP:0011021HP:0011021Abnormality of circulating enzyme level0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0011021HP:0011021Abnormality of circulating enzyme level0ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 51
HP:0011021HP:0011021Abnormality of circulating enzyme level0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0011021HP:0011021Abnormality of circulating enzyme level0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0011021HP:0011021Abnormality of circulating enzyme level0ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0011021HP:0011021Abnormality of circulating enzyme level0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0011021HP:0011021Abnormality of circulating enzyme level0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0011021HP:0011021Abnormality of circulating enzyme level0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 680
HP:0011021HP:0011021Abnormality of circulating enzyme level0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0011021HP:0011021Abnormality of circulating enzyme level0KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activity145
HP:0011021HP:0011021Abnormality of circulating enzyme level0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0011021HP:0011021Abnormality of circulating enzyme level0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0011021HP:0011021Abnormality of circulating enzyme level0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0011021HP:0011021Abnormality of circulating enzyme level0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0011021HP:0011021Abnormality of circulating enzyme level0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0011021HP:0011021Abnormality of circulating enzyme level0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0011021HP:0011021Abnormality of circulating enzyme level0LAMP2 CL E G H39206501OMIM:300257Danon disease211
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain disease136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndrome136
HP:0011021HP:0011021Abnormality of circulating enzyme level0LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0011021HP:0011021Abnormality of circulating enzyme level0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0011021HP:0011021Abnormality of circulating enzyme level0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0011021HP:0011021Abnormality of circulating enzyme level0LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI35
HP:0011021HP:0011021Abnormality of circulating enzyme level0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0011021HP:0011021Abnormality of circulating enzyme level0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0011021HP:0011021Abnormality of circulating enzyme level0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0011021HP:0011021Abnormality of circulating enzyme level0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0011021HP:0011021Abnormality of circulating enzyme level0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0011021HP:0011021Abnormality of circulating enzyme level0LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent95
HP:0011021HP:0011021Abnormality of circulating enzyme level0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0011021HP:0011021Abnormality of circulating enzyme level0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophy92
HP:0011021HP:0011021Abnormality of circulating enzyme level0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0011021HP:0011021Abnormality of circulating enzyme level0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0011021HP:0011021Abnormality of circulating enzyme level0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011021HP:0011021Abnormality of circulating enzyme level0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0011021HP:0011021Abnormality of circulating enzyme level0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0011021HP:0011021Abnormality of circulating enzyme level0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0011021HP:0011021Abnormality of circulating enzyme level0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011021HP:0011021Abnormality of circulating enzyme level0MLIP CL E G H9052321355OMIM:620138
HP:0011021HP:0011021Abnormality of circulating enzyme level0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0011021HP:0011021Abnormality of circulating enzyme level0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0011021HP:0011021Abnormality of circulating enzyme level0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0011021HP:0011021Abnormality of circulating enzyme level0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0011021HP:0011021Abnormality of circulating enzyme level0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0011021HP:0011021Abnormality of circulating enzyme level0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0011021HP:0011021Abnormality of circulating enzyme level0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body75
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0011021HP:0011021Abnormality of circulating enzyme level0MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0011021HP:0011021Abnormality of circulating enzyme level0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0011021HP:0011021Abnormality of circulating enzyme level0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G118
HP:0011021HP:0011021Abnormality of circulating enzyme level0NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0011021HP:0011021Abnormality of circulating enzyme level0NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011021HP:0011021Abnormality of circulating enzyme level0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011021HP:0011021Abnormality of circulating enzyme level0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0011021HP:0011021Abnormality of circulating enzyme level0OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0011021HP:0011021Abnormality of circulating enzyme level0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 219
HP:0011021HP:0011021Abnormality of circulating enzyme level0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011021HP:0011021Abnormality of circulating enzyme level0PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophy10
HP:0011021HP:0011021Abnormality of circulating enzyme level0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0011021HP:0011021Abnormality of circulating enzyme level0PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011021HP:0011021Abnormality of circulating enzyme level0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0011021HP:0011021Abnormality of circulating enzyme level0PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of26
HP:0011021HP:0011021Abnormality of circulating enzyme level0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0011021HP:0011021Abnormality of circulating enzyme level0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0011021HP:0011021Abnormality of circulating enzyme level0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0011021HP:0011021Abnormality of circulating enzyme level0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0011021HP:0011021Abnormality of circulating enzyme level0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0011021HP:0011021Abnormality of circulating enzyme level0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0011021HP:0011021Abnormality of circulating enzyme level0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0011021HP:0011021Abnormality of circulating enzyme level0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0011021HP:0011021Abnormality of circulating enzyme level0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q759
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0011021HP:0011021Abnormality of circulating enzyme level0PLXNA1 CL E G H53619099OMIM:619955
HP:0011021HP:0011021Abnormality of circulating enzyme level0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0011021HP:0011021Abnormality of circulating enzyme level0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0011021HP:0011021Abnormality of circulating enzyme level0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0011021HP:0011021Abnormality of circulating enzyme level0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z6
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0011021HP:0011021Abnormality of circulating enzyme level0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain disease180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndrome180
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 833
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndrome33
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndrome18
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain disease213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndrome213
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain disease221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndrome221
HP:0011021HP:0011021Abnormality of circulating enzyme level0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0011021HP:0011021Abnormality of circulating enzyme level0PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0011021HP:0011021Abnormality of circulating enzyme level0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0011021HP:0011021Abnormality of circulating enzyme level0PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0011021HP:0011021Abnormality of circulating enzyme level0PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0011021HP:0011021Abnormality of circulating enzyme level0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0011021HP:0011021Abnormality of circulating enzyme level0PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0011021HP:0011021Abnormality of circulating enzyme level0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0011021HP:0011021Abnormality of circulating enzyme level0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0011021HP:0011021Abnormality of circulating enzyme level0QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011021HP:0011021Abnormality of circulating enzyme level0RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0011021HP:0011021Abnormality of circulating enzyme level0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0011021HP:0011021Abnormality of circulating enzyme level0RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0011021HP:0011021Abnormality of circulating enzyme level0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011021HP:0011021Abnormality of circulating enzyme level0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23
HP:0011021HP:0011021Abnormality of circulating enzyme level0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0011021HP:0011021Abnormality of circulating enzyme level0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0011021HP:0011021Abnormality of circulating enzyme level0RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0011021HP:0011021Abnormality of circulating enzyme level0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0011021HP:0011021Abnormality of circulating enzyme level0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0011021HP:0011021Abnormality of circulating enzyme level0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0011021HP:0011021Abnormality of circulating enzyme level0SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0011021HP:0011021Abnormality of circulating enzyme level0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0011021Abnormality of circulating enzyme level0SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0011021HP:0011021Abnormality of circulating enzyme level0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0011021HP:0011021Abnormality of circulating enzyme level0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0011021HP:0011021Abnormality of circulating enzyme level0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C83
HP:0011021HP:0011021Abnormality of circulating enzyme level0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndrome67
HP:0011021HP:0011021Abnormality of circulating enzyme level0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome67
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect74
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0011021HP:0011021Abnormality of circulating enzyme level0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0011021HP:0011021Abnormality of circulating enzyme level0SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophy174
HP:0011021HP:0011021Abnormality of circulating enzyme level0SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011021HP:0011021Abnormality of circulating enzyme level0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0011021HP:0011021Abnormality of circulating enzyme level0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0011021HP:0011021Abnormality of circulating enzyme level0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0011021HP:0011021Abnormality of circulating enzyme level0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0011021HP:0011021Abnormality of circulating enzyme level0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0011021HP:0011021Abnormality of circulating enzyme level0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0011021HP:0011021Abnormality of circulating enzyme level0SUGCT CL E G H7978316001ORPHA:35706Glutaric acidemia type 3HP:0040281 - Very frequent8
HP:0011021HP:0011021Abnormality of circulating enzyme level0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0011021HP:0011021Abnormality of circulating enzyme level0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0011021HP:0011021Abnormality of circulating enzyme level0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0011021HP:0011021Abnormality of circulating enzyme level0SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant1129
HP:0011021HP:0011021Abnormality of circulating enzyme level0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0011021HP:0011021Abnormality of circulating enzyme level0SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant508
HP:0011021HP:0011021Abnormality of circulating enzyme level0SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 539
HP:0011021HP:0011021Abnormality of circulating enzyme level0TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0011021Abnormality of circulating enzyme level0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0011021HP:0011021Abnormality of circulating enzyme level0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0011021HP:0011021Abnormality of circulating enzyme level0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0011021HP:0011021Abnormality of circulating enzyme level0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0011021HP:0011021Abnormality of circulating enzyme level0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0011021HP:0011021Abnormality of circulating enzyme level0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0011021HP:0011021Abnormality of circulating enzyme level0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0011021HP:0011021Abnormality of circulating enzyme level0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0011021HP:0011021Abnormality of circulating enzyme level0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0011021HP:0011021Abnormality of circulating enzyme level0TIA1 CL E G H707211802OMIM:604454Welander distal myopathy5
HP:0011021HP:0011021Abnormality of circulating enzyme level0TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011021HP:0011021Abnormality of circulating enzyme level0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0011021HP:0011021Abnormality of circulating enzyme level0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011021HP:0011021Abnormality of circulating enzyme level0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0011021HP:0011021Abnormality of circulating enzyme level0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0011021HP:0011021Abnormality of circulating enzyme level0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0011021HP:0011021Abnormality of circulating enzyme level0TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0011021HP:0011021Abnormality of circulating enzyme level0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0011021HP:0011021Abnormality of circulating enzyme level0TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0011021HP:0011021Abnormality of circulating enzyme level0TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0011021HP:0011021Abnormality of circulating enzyme level0TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0011021HP:0011021Abnormality of circulating enzyme level0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0011021HP:0011021Abnormality of circulating enzyme level0TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0011021HP:0011021Abnormality of circulating enzyme level0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0011021HP:0011021Abnormality of circulating enzyme level0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0011021HP:0011021Abnormality of circulating enzyme level0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8108
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0011021Abnormality of circulating enzyme level0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0011021HP:0011021Abnormality of circulating enzyme level0TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0011021HP:0011021Abnormality of circulating enzyme level0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0011021HP:0011021Abnormality of circulating enzyme level0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0011021HP:0011021Abnormality of circulating enzyme level0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0011021HP:0011021Abnormality of circulating enzyme level0TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0011021HP:0011021Abnormality of circulating enzyme level0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0011021HP:0011021Abnormality of circulating enzyme level0UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011021HP:0011021Abnormality of circulating enzyme level0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y63
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0011021HP:0011021Abnormality of circulating enzyme level0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0011021HP:0011021Abnormality of circulating enzyme level0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy10
HP:0011021HP:0011021Abnormality of circulating enzyme level0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0011021HP:0011021Abnormality of circulating enzyme level0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0011021HP:0011021Abnormality of circulating enzyme level0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0011021HP:0011021Abnormality of circulating enzyme level0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathy254
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiency200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathy208
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathy307
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AGL CL E G H178321OMIM:232400Glycogen storage disease III216
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiency31
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome60
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 1446
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathy95
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L304
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1125
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain disease43
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1143
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID85
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathy204
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4323
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CASQ1 CL E G H8441512ORPHA:88635Vacuolar myopathy with sarcoplasmic reticulum protein aggregates5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040282 - Frequent148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAV3 CL E G H8591529ORPHA:206599Isolated asymptomatic elevation of creatine phosphokinase148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIO3
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive478
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency99
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic form101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal form101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRYAB CL E G H14102389OMIM:615184Cardiomyopathy, dilated, 1ii46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathy46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related46
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathy104
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathy263
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 457
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928ORPHA:98895Becker muscular dystrophy1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928OMIM:302045Cardiomyopathy, dilated, 3B1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophy1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathy1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMGDH CL E G H2995824475ORPHA:243343Dimethylglycine dehydrogenase deficiency27
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5167
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophy79
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathy55
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM1 CL E G H88133005ORPHA:79322DPM1-CDG27
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu26
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathy358
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathy747
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040281 - Very frequent600
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset600
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII34
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis6
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathy36
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvement157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain disease157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathy184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622ORPHA:588Muscle-eye-brain disease184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency18
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant197
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4197
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophy1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathy35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvement34
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain disease34
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1434
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1434
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathy2
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia31
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 25
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 51
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia124
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 680
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activity145
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathy279
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LAMP2 CL E G H39206501OMIM:300257Danon disease211
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain disease136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathy286
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathy645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related645
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent95
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophy92
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MLIP CL E G H9052321355OMIM:620138
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1B134
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathy1143
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathy452
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathy1269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body75
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY75
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathy217
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 2434
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G118
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathy167
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 219
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophy10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of26
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresia759
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q759
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathy57
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PLXNA1 CL E G H53619099OMIM:619955
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathy65
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z6
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegia464
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 445
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvement180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain disease180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 833
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvement18
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1218
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvement213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain disease213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvement221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain disease221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathy148
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathy241
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathy59
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathy212
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathy363
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 23
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040283 - Occasional1200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermia1200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 11200
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathy1134
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathy304
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathy223
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C83
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome67
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect74
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency40
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophy174
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria66
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant1129
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant508
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 539
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathy
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathy78
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TIA1 CL E G H707211802OMIM:604454Welander distal myopathy5
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegia103
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3103
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathy136
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathy73
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathy180
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathy230
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8108
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 343
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathy7128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403OMIM:611705Salih myopathy7128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathy85
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathy248
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2Y63
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementia63
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy10
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0011021HP:0040081Abnormal circulating creatine kinase concentration1XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0011021HP:0032234Increased circulating creatine kinase MM isoform2 CL E G H
HP:0011021HP:0032233Increased circulating creatine kinase BB isoform2 CL E G H
HP:0011021HP:0025659Decreased circulating creatine kinase concentration2 CL E G H
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ABCC9 CL E G H1006060ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional254
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiency98
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACADVL CL E G H3792ORPHA:26793Very long chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACADVL CL E G H3792OMIM:201475Very long-chain acyl-CoA dehydrogenase deficiency.200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTC1 CL E G H70143ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional208
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTN2 CL E G H88164ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional307
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency26
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AGL CL E G H178321OMIM:232400Glycogen storage disease III.216
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AIFM1 CL E G H91318768OMIM:310490Cowchock syndrome.60
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiency50
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 1446
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANKRD1 CL E G H2706315819ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional95
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2LHP:0040282 - Frequent304
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ATP5F1D CL E G H513837OMIM:618120Mitochondrial complex V (atp synthase) deficiency, nuclear type 5.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2B4GALT1 CL E G H2683924ORPHA:79332B4GALT1-CDG85
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2B4GALT1 CL E G H2683924OMIM:607091Congenital disorder of glycosylation, type IID.85
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BAG3 CL E G H9531939ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional204
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BAG5 CL E G H9529941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesia247
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAP2 CL E G H1048620039ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates.5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CASQ1 CL E G H8441512ORPHA:88635Vacuolar myopathy with sarcoplasmic reticulum protein aggregatesHP:0040281 - Very frequent5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAV3 CL E G H8591529ORPHA:206599Isolated asymptomatic elevation of creatine phosphokinase148
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAV3 CL E G H8591529OMIM:614321Myopathy, distal, Tateyama type.148
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CCDC115 CL E G H8431728178OMIM:616828Congenital disorder of glycosylation, type IIOHP:0040283 - Occasional3
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent65
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent442
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent478
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040281 - Very frequent702
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COX16 CL E G H5124120213OMIM:619355MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT1A CL E G H13742328OMIM:255120Carnitine palmitoyltransferase I deficiency.99
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT2 CL E G H13762330ORPHA:228302Carnitine palmitoyl transferase II deficiency, myopathic formHP:0040283 - Occasional101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT2 CL E G H13762330OMIM:600649Carnitine palmitoyltransferase II deficiency, infantile101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRPPA CL E G H72992037276OMIM:616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRYAB CL E G H14102389OMIM:615184Cardiomyopathy, dilated, 1ii46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRYAB CL E G H14102389ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CRYAB CL E G H14102389OMIM:613869Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related.46
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2CSRP3 CL E G H80482472ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional104
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040281 - Very frequent108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DES CL E G H16742770ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional263
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040281 - Very frequent1496
HP:0011021HP:0032232Increased circulating creatine kinase MB isoform2DMD CL E G H17562928OMIM:302045Cardiomyopathy, dilated, 3B1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928OMIM:300376Muscular dystrophy, Becker type.1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMGDH CL E G H2995824475ORPHA:243343Dimethylglycine dehydrogenase deficiencyHP:0040281 - Very frequent27
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNM2 CL E G H17852974OMIM:615368Lethal congenital contracture syndrome 5.167
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DNMT3B CL E G H17892979ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent79
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DOLK CL E G H2284523406ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional55
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040281 - Very frequent27
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type Iu.26
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0011021HP:0032232Increased circulating creatine kinase MB isoform2DSG2 CL E G H18293049OMIM:610193Arrhythmogenic right ventricular dysplasia, familial, 10358
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DSG2 CL E G H18293049ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional358
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DSP CL E G H18323052ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional747
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DUX4 CL E G H10028868750800ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040281 - Very frequent600
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2DYSF CL E G H82913097OMIM:606768Myopathy, distal, with anterior tibial onset.600
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked.107
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent107
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ENO3 CL E G H20273354OMIM:612932Glycogen storage disease XIII.34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FAM111B CL E G H37439324200OMIM:615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.6
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyHP:0040284 - Very rare
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe.68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FHL2 CL E G H22743703ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional36
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040281 - Very frequent157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4.184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiencyHP:0040283 - Occasional18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4197
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FRG1 CL E G H24833954ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0011021HP:0032232Increased circulating creatine kinase MB isoform2GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GATAD1 CL E G H5779829941ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GATB CL E G H51888849OMIM:618838COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GATC CL E G H28345925068OMIM:618839COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD421
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GIPC1 CL E G H107551226OMIM:618940OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040282 - Frequent34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14.34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency41
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HADHA CL E G H30304801OMIM:609015Mitochondrial trifunctional protein deficiency99
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HADHB CL E G H30324803OMIM:609015Mitochondrial trifunctional protein deficiency60
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HAND2 CL E G H94644808ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional2
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent31
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HNRNPA2B1 CL E G H31815033OMIM:615422Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2.5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HNRNPDL CL E G H99875037OMIM:609115Limb-girdle muscular dystrophy, type 1G.5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ISCA1 CL E G H8168928660OMIM:617613Multiple mitochondrial dysfunctions syndrome 5HP:0040284 - Very rare1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type.19
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ITGB4 CL E G H36916158ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent124
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 680
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1.145
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activityHP:0040281 - Very frequent145
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMA4 CL E G H39106484ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional279
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LAMP2 CL E G H39206501OMIM:300257Danon disease.211
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6.136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LDB3 CL E G H1115515710ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional286
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LDHA CL E G H39396535OMIM:612933Glycogen storage disease XI.35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LIMS2 CL E G H5567916084OMIM:616827Muscular dystrophy, limb-girdle, type 2W10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6HP:0040283 - Occasional7
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive.645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LPIN1 CL E G H2317513345OMIM:268200Rhabdomyolysis, acute recurrent.95
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1HP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 21.80
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MLIP CL E G H9052321355OMIM:620138
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040282 - Frequent134
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYBPC3 CL E G H46077551ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1143
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss227
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH6 CL E G H46247576ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional452
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage.1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive.1269
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYL2 CL E G H46337583OMIM:619424MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12131
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040282 - Frequent75
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2MYPN CL E G H8466523246ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional217
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NEXN CL E G H9162429557ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional167
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NFS1 CL E G H905415910OMIM:619386COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD525
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5HP:0040283 - Occasional84
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PABPN1 CL E G H81068565ORPHA:270Oculopharyngeal muscular dystrophyHP:0040281 - Very frequent10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040282 - Frequent4
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PET100 CL E G H10013180140038OMIM:619055MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN126
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PGAM2 CL E G H52248889OMIM:261670Phosphoglycerate mutase, muscle, deficiency of.26
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked.54
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLEC CL E G H53399069ORPHA:158684Epidermolysis bullosa simplex with pyloric atresiaHP:0040282 - Frequent759
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C186
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLN CL E G H53509080ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional57
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PLXNA1 CL E G H53619099OMIM:619955
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040282 - Frequent65
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMK CL E G H8419726267OMIM:615249MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12.18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040281 - Very frequent221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040281 - Very frequent221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040281 - Very frequent221
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PPCS CL E G H7971725686ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PRDM16 CL E G H6397614000ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional148
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PSEN1 CL E G H56639508ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional241
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PSEN2 CL E G H56649509ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional59
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040281 - Very frequent166
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PYGM CL E G H58379726OMIM:232600Glycogen storage disease V166
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2QRSL1 CL E G H5527821020OMIM:618835COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RAF1 CL E G H58949829ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional212
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency.10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RBM20 CL E G H28299627424ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional363
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RILPL1 CL E G H35311626814OMIM:619790OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2HP:0040283 - Occasional3
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040284 - Very rare1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483ORPHA:466650Exercise-induced malignant hyperthermiaHP:0040283 - Occasional1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesia1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2RYR1 CL E G H626110483OMIM:145600Malignant hyperthermia, susceptibility to, 1.1200
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040281 - Very frequent263
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravatedHP:0040283 - Occasional263
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SCN5A CL E G H633110593ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional1134
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SDHA CL E G H638910680ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional304
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E.113
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCD CL E G H644410807ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional223
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect.74
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC25A20 CL E G H7881421OMIM:212138Carnitine-acylcarnitine translocase deficiency.40
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiency40
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0011021HP:0032232Increased circulating creatine kinase MB isoform2SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SMCHD1 CL E G H2334729090ORPHA:269Facioscapulohumeral dystrophyHP:0040281 - Very frequent174
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SQOR CL E G H5847220390OMIM:619221SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent1129
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant.1129
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent508
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant.508
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2SYNJ1 CL E G H886711503OMIM:617389Epileptic encephalopathy, early infantile, 53.9
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TAF1A CL E G H901511532ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TAFAZZIN CL E G H690111577ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040281 - Very frequent12
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040283 - Occasional16
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TCAP CL E G H855711610ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional78
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type18
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TIA1 CL E G H707211802OMIM:604454Welander distal myopathy5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TIMM22 CL E G H2992817317OMIM:618851COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040284 - Very rare103
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040281 - Very frequent171
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TMPO CL E G H711211875ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional136
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8HP:0040283 - Occasional5
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TNNC1 CL E G H713411943ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional73
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TNNI3 CL E G H713711947ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional180
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TNNT2 CL E G H713911949ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2YHP:0040283 - Occasional10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TPM1 CL E G H716812010ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional230
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome4
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency101
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive.214
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TSFM CL E G H1010212367OMIM:610505Combined oxidative phosphorylation deficiency 3.43
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional7128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403OMIM:611705Salih myopathyHP:0040283 - Occasional7128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2TXNRD2 CL E G H1058718155ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional85
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophy35
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2UQCRFS1 CL E G H738612587OMIM:618775MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCL CL E G H741412665ORPHA:154Familial isolated dilated cardiomyopathyHP:0040283 - Occasional248
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666OMIM:616687Charcot-Marie-Tooth disease, axonal, type 2YHP:0040283 - Occasional63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent63
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0011021HP:0003236Elevated circulating creatine kinase concentration2XK CL E G H750412811OMIM:300842Mcleod syndrome.8
HP:0011021HP:0008331Elevated creatine kinase after exercise3ACAD9 CL E G H2897621497ORPHA:99901Acyl-CoA dehydrogenase 9 deficiencyHP:0040282 - Frequent98
HP:0011021HP:0008180Mildly elevated creatine kinase3ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0011021HP:0008180Mildly elevated creatine kinase3ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0011021HP:0008180Mildly elevated creatine kinase3ADSS1 CL E G H12262220093OMIM:617030Myopathy, distal, 5.
HP:0011021HP:0008331Elevated creatine kinase after exercise3ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040282 - Frequent50
HP:0011021HP:0008180Mildly elevated creatine kinase3ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0011021HP:0030234Highly elevated creatine kinase3ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0011021HP:0008180Mildly elevated creatine kinase3BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0011021HP:0008180Mildly elevated creatine kinase3CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent247
HP:0011021HP:0008331Elevated creatine kinase after exercise3CACNA1S CL E G H7791397ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional247
HP:0011021HP:0008180Mildly elevated creatine kinase3CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0011021HP:0008180Mildly elevated creatine kinase3CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0011021HP:0008180Mildly elevated creatine kinase3COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0011021HP:0008180Mildly elevated creatine kinase3COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0011021HP:0008180Mildly elevated creatine kinase3COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0011021HP:0008180Mildly elevated creatine kinase3COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0011021HP:0008180Mildly elevated creatine kinase3COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0011021HP:0008180Mildly elevated creatine kinase3COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy.137
HP:0011021HP:0030234Highly elevated creatine kinase3COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0030234Highly elevated creatine kinase3COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0011021HP:0008180Mildly elevated creatine kinase3CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0011021HP:0030234Highly elevated creatine kinase3CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0011021HP:0008331Elevated creatine kinase after exercise3DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0011021HP:0008180Mildly elevated creatine kinase3DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0011021HP:0008180Mildly elevated creatine kinase3DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0011021HP:0008180Mildly elevated creatine kinase3DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0011021HP:0008331Elevated creatine kinase after exercise3DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0011021HP:0030234Highly elevated creatine kinase3DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0011021HP:0008180Mildly elevated creatine kinase3ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0011021HP:0008180Mildly elevated creatine kinase3FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0011021HP:0008180Mildly elevated creatine kinase3FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0011021HP:0008180Mildly elevated creatine kinase3GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0011021HP:0008180Mildly elevated creatine kinase3GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0011021HP:0008180Mildly elevated creatine kinase3HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0011021HP:0008180Mildly elevated creatine kinase3KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0011021HP:0008180Mildly elevated creatine kinase3KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent73
HP:0011021HP:0008180Mildly elevated creatine kinase3KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0011021HP:0008180Mildly elevated creatine kinase3KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0011021HP:0030234Highly elevated creatine kinase3LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0011021HP:0008331Elevated creatine kinase after exercise3LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040282 - Frequent35
HP:0011021HP:0008180Mildly elevated creatine kinase3LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0011021HP:0030234Highly elevated creatine kinase3LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0011021HP:0008180Mildly elevated creatine kinase3MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0011021HP:0030235Extremely elevated creatine kinase3MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0011021HP:0008180Mildly elevated creatine kinase3MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0011021HP:0008180Mildly elevated creatine kinase3MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0011021HP:0008180Mildly elevated creatine kinase3MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0011021HP:0008180Mildly elevated creatine kinase3MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0011021HP:0008180Mildly elevated creatine kinase3MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0011021HP:0008180Mildly elevated creatine kinase3MYH14 CL E G H7978423212OMIM:614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss.227
HP:0011021HP:0008180Mildly elevated creatine kinase3MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0011021HP:0008180Mildly elevated creatine kinase3MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040282 - Frequent1269
HP:0011021HP:0008180Mildly elevated creatine kinase3MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0011021HP:0008180Mildly elevated creatine kinase3MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0011021HP:0008180Mildly elevated creatine kinase3MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0011021HP:0008180Mildly elevated creatine kinase3NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0011021HP:0008180Mildly elevated creatine kinase3NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0011021HP:0030235Extremely elevated creatine kinase3NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0011021HP:0008180Mildly elevated creatine kinase3PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0011021HP:0008180Mildly elevated creatine kinase3PLEKHG5 CL E G H5744929105OMIM:615376Charcot-Marie-Tooth disease, recessive intermediate C.186
HP:0011021HP:0008180Mildly elevated creatine kinase3POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0011021HP:0008180Mildly elevated creatine kinase3POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0011021HP:0008180Mildly elevated creatine kinase3POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011021HP:0008180Mildly elevated creatine kinase3POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0011021HP:0030234Highly elevated creatine kinase3POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0011021HP:0030234Highly elevated creatine kinase3PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040281 - Very frequent166
HP:0011021HP:0008180Mildly elevated creatine kinase3QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0011021HP:0008180Mildly elevated creatine kinase3RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0011021HP:0008331Elevated creatine kinase after exercise3RYR1 CL E G H626110483ORPHA:423Malignant hyperthermia of anesthesiaHP:0040283 - Occasional1200
HP:0011021HP:0008180Mildly elevated creatine kinase3SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040281 - Very frequent263
HP:0011021HP:0008180Mildly elevated creatine kinase3SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0011021HP:0008331Elevated creatine kinase after exercise3SLC25A20 CL E G H7881421ORPHA:159Carnitine-acylcarnitine translocase deficiencyHP:0040281 - Very frequent40
HP:0011021HP:0008180Mildly elevated creatine kinase3SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0011021HP:0008180Mildly elevated creatine kinase3TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0011021HP:0008180Mildly elevated creatine kinase3TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0011021HP:0008180Mildly elevated creatine kinase3TIA1 CL E G H707211802OMIM:604454Welander distal myopathy.5
HP:0011021HP:0008180Mildly elevated creatine kinase3TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0011021HP:0008180Mildly elevated creatine kinase3TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0011021HP:0008180Mildly elevated creatine kinase3TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040283 - Occasional4
HP:0011021HP:0008180Mildly elevated creatine kinase3TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent101
HP:0011021HP:0008180Mildly elevated creatine kinase3TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0011021HP:0008180Mildly elevated creatine kinase3TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0011021HP:0008180Mildly elevated creatine kinase3TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0011021HP:0008180Mildly elevated creatine kinase3UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0011021HP:0008180Mildly elevated creatine kinase3VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63


Genes (323) :AASS ABCC9 ABHD5 ACAD9 ACADM ACADVL ACTA1 ACTC1 ACTN2 ADK ADSS1 AGL AGXT AHCY AIFM1 ALDOA ALG14 ALG2 AMACR ANKRD1 ANO5 ANXA11 AP5Z1 APTX AR ATP5F1D B3GALNT2 B4GALT1 B4GAT1 BAG3 BAG5 BAZ1B BCL7B BICD2 BIN1 BUD23 BVES C19ORF12 C1QBP CA2 CACNA1S CAP2 CAPN3 CASQ1 CAV3 CAVIN1 CCDC115 CFL2 CHCHD10 CHKB CLIP2 CNBP COA7 COG6 COG7 COG8 COL12A1 COL25A1 COL4A1 COL6A1 COL6A2 COL6A3 COL9A3 COQ2 COX1 COX16 COX20 COX3 CPT1A CPT2 CRPPA CRYAB CSRP3 DAG1 DCXR DES DGUOK DHX16 DMD DMGDH DNA2 DNAJB6 DNAJC30 DNM2 DNMT3B DOK7 DOLK DPAGT1 DPM1 DPM2 DPM3 DSG2 DSP DUX4 DYSF EIF4H ELN EMD ENO3 EPG5 ERGIC1 FAM111B FDX2 FHL1 FHL2 FKBP14 FKBP6 FKRP FKTN FLAD1 FLNC FRG1 GAA GABRA3 GATAD1 GATB GATC GFPT1 GGPS1 GIPC1 GMPPB GNE GOSR2 GTF2I GTF2IRD1 GTF2IRD2 GYG1 HADH HADHA HADHB HAND2 HEXB HHAT HINT1 HNRNPA1 HNRNPA2B1 HNRNPDL HSPG2 INPP5K ISCA1 ISCU ITGA7 ITGB4 JAG2 KBTBD13 KCNA1 KCNE3 KCNJ18 KLHL41 KLHL9 KY LAMA1 LAMA2 LAMA4 LAMP2 LARGE1 LDB3 LDHA LIMK1 LIMS2 LIPE LMNA LMOD3 LPIN1 LRP12 LTBP4 MATR3 METTL27 MGME1 MICU1 MIEF2 MLIP MLXIPL MPDU1 MPV17 MPZ MSTO1 MTMR14 MVK MYBPC3 MYF6 MYH14 MYH6 MYH7 MYL2 MYMK MYOT MYPN NARS2 NCF1 NEB NEFH NEFL NEXN NFS1 NOTCH2NLC NSUN2 OCRL ORAI1 OTUD5 PABPN1 PDK3 PET100 PEX6 PGAM2 PGM1 PHKA1 PHKA2 PHKB PHKG2 PIEZO2 PIGY PIK3R5 PITRM1 PLA2G6 PLEC PLEKHG5 PLN PLXNA1 PNPLA2 POGLUT1 POLG POLG2 POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPCS PRDM16 PRUNE1 PSEN1 PSEN2 PYGM PYROXD1 QRICH1 QRSL1 RAF1 RBCK1 RBM20 RFC2 RILPL1 RNASEH1 RRM2B RXYLT1 RYR1 SCN4A SCN5A SCYL2 SDHA SETX SGCA SGCB SGCD SGCG SIL1 SLC16A1 SLC22A5 SLC25A20 SLC25A4 SLC25A42 SLC30A9 SLC39A14 SMCHD1 SQOR SQSTM1 STIM1 STX1A SUCLA2 SUGCT SUOX SVIL SYNE1 SYNE2 SYNJ1 TAF1A TAFAZZIN TANGO2 TBCD TBL2 TCAP TFG TIA1 TIMM22 TK2 TMEM165 TMEM270 TMEM43 TMPO TMTC3 TNNC1 TNNI3 TNNT2 TOR1AIP1 TPM1 TPM2 TPM3 TRAPPC11 TRAPPC2L TRIM32 TRIP4 TRMU TRNE TRNL1 TRNL2 TRNN TRNS1 TRPV4 TSFM TTN TWNK TXNRD2 UBA1 UQCRFS1 USB1 VCL VCP VMA21 VPS13A VPS37D XK

Diseases (389) :ORPHA:3124 ORPHA:154 ORPHA:98907 ORPHA:99901 ORPHA:42 ORPHA:26793 OMIM:201475 ORPHA:171439 OMIM:161800 ORPHA:171436 ORPHA:97240 OMIM:618655 OMIM:614300 OMIM:617030 OMIM:232400 ORPHA:93598 ORPHA:88618 OMIM:310490 ORPHA:57 OMIM:611881 ORPHA:353327 OMIM:616228 ORPHA:79095 ORPHA:206549 ORPHA:399096 OMIM:613319 OMIM:611307 OMIM:619733 ORPHA:306511 OMIM:208920 OMIM:313200 OMIM:618120 ORPHA:588 OMIM:615181 ORPHA:899 ORPHA:79332 OMIM:607091 OMIM:615287 OMIM:612954 ORPHA:904 OMIM:615290 ORPHA:169189 OMIM:616812 OMIM:614298 OMIM:617713 ORPHA:2785 ORPHA:681 ORPHA:423 ORPHA:79102 ORPHA:267 OMIM:618129 OMIM:253600 OMIM:616231 ORPHA:88635 OMIM:123320 ORPHA:488650 ORPHA:206599 OMIM:614321 OMIM:606072 OMIM:613327 OMIM:616828 ORPHA:457050 ORPHA:276435 OMIM:616209 OMIM:615048 OMIM:602541 OMIM:602668 OMIM:618387 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:611182 ORPHA:610 OMIM:616471 ORPHA:75840 ORPHA:536516 ORPHA:1143 OMIM:175780 OMIM:158810 OMIM:254090 OMIM:255600 OMIM:600969 OMIM:607426 ORPHA:99845 OMIM:619355 OMIM:619054 OMIM:255120 ORPHA:228302 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 ORPHA:370980 ORPHA:352479 OMIM:614643 OMIM:616052 ORPHA:399058 OMIM:615184 OMIM:608810 OMIM:613869 ORPHA:280333 ORPHA:370997 OMIM:616538 OMIM:613818 ORPHA:2843 OMIM:617070 OMIM:618733 ORPHA:98895 OMIM:302045 ORPHA:98896 OMIM:310200 OMIM:300376 ORPHA:206546 ORPHA:243343 OMIM:605850 ORPHA:352470 OMIM:615156 OMIM:603511 OMIM:615368 OMIM:160150 ORPHA:269 OMIM:254300 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 ORPHA:263494 OMIM:618992 OMIM:612937 OMIM:610193 ORPHA:178400 ORPHA:268 OMIM:254130 OMIM:253601 OMIM:606768 OMIM:310300 ORPHA:98863 OMIM:612932 OMIM:242840 OMIM:615704 OMIM:251900 OMIM:300718 OMIM:300717 OMIM:300696 OMIM:300695 OMIM:300280 ORPHA:300179 ORPHA:370959 ORPHA:370968 ORPHA:34515 OMIM:236670 OMIM:613153 OMIM:606612 OMIM:607155 OMIM:611615 OMIM:253800 OMIM:613152 OMIM:611588 OMIM:255100 OMIM:609524 OMIM:614065 OMIM:158900 ORPHA:308552 OMIM:232300 OMIM:618838 OMIM:618839 OMIM:610542 OMIM:619518 OMIM:618940 ORPHA:363623 OMIM:615350 OMIM:615351 OMIM:615352 ORPHA:602 OMIM:605820 OMIM:614018 OMIM:616199 ORPHA:71212 OMIM:609015 ORPHA:309169 OMIM:600092 ORPHA:324442 OMIM:137200 OMIM:615424 ORPHA:52430 OMIM:615422 OMIM:609115 ORPHA:800 OMIM:255800 ORPHA:559 OMIM:617404 OMIM:617613 OMIM:255125 OMIM:613204 ORPHA:158684 OMIM:619566 OMIM:609273 OMIM:160120 ORPHA:972 ORPHA:399081 OMIM:617114 ORPHA:370022 ORPHA:258 OMIM:607855 OMIM:618138 OMIM:300257 OMIM:613154 OMIM:608840 OMIM:609452 ORPHA:284426 OMIM:612933 OMIM:616827 ORPHA:435660 OMIM:615980 ORPHA:98853 ORPHA:98855 OMIM:181350 OMIM:616516 OMIM:613205 OMIM:268200 OMIM:164310 OMIM:606070 ORPHA:600 OMIM:615084 ORPHA:352447 OMIM:615673 ORPHA:401768 OMIM:619024 OMIM:620138 ORPHA:79323 OMIM:618400 ORPHA:101082 ORPHA:502423 OMIM:617675 OMIM:610377 OMIM:614369 ORPHA:397744 ORPHA:59135 ORPHA:437572 OMIM:160500 OMIM:608358 OMIM:255160 OMIM:619424 OMIM:254940 ORPHA:266 ORPHA:98911 OMIM:182920 OMIM:609200 OMIM:616239 OMIM:256030 OMIM:616924 ORPHA:99939 OMIM:617882 OMIM:619386 OMIM:619473 OMIM:611091 OMIM:300555 OMIM:615883 OMIM:301056 ORPHA:270 ORPHA:352675 OMIM:619055 ORPHA:95433 OMIM:261670 OMIM:614921 OMIM:300559 ORPHA:264580 ORPHA:79240 OMIM:617146 OMIM:616809 ORPHA:64753 OMIM:619405 ORPHA:199351 OMIM:612953 OMIM:613723 ORPHA:254361 OMIM:615376 OMIM:619955 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:617232 ORPHA:254892 ORPHA:254886 OMIM:258450 OMIM:607459 OMIM:610131 OMIM:619743 OMIM:253280 OMIM:613151 OMIM:613157 OMIM:618135 OMIM:615249 OMIM:616094 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613150 OMIM:613156 OMIM:613158 ORPHA:206559 OMIM:618848 ORPHA:544469 ORPHA:368 OMIM:232600 OMIM:617258 OMIM:617982 OMIM:618835 OMIM:615895 OMIM:619790 OMIM:616479 ORPHA:597 ORPHA:466650 OMIM:619542 OMIM:145600 ORPHA:682 OMIM:608390 OMIM:606002 ORPHA:62 OMIM:608099 ORPHA:119 OMIM:604286 OMIM:601287 ORPHA:353 OMIM:253700 OMIM:248800 OMIM:245340 OMIM:212140 OMIM:212138 ORPHA:159 OMIM:615418 OMIM:618416 OMIM:617595 OMIM:617013 OMIM:619221 ORPHA:603 OMIM:617158 OMIM:160565 OMIM:185070 OMIM:612073 ORPHA:1933 ORPHA:35706 OMIM:272300 OMIM:619040 OMIM:612998 OMIM:612999 OMIM:617389 OMIM:616878 ORPHA:480864 ORPHA:496641 OMIM:617193 OMIM:601954 ORPHA:90117 OMIM:604484 OMIM:604454 OMIM:618851 OMIM:609560 OMIM:617069 OMIM:614727 OMIM:617255 OMIM:617072 OMIM:615356 ORPHA:369840 OMIM:618331 OMIM:254110 ORPHA:1878 ORPHA:486815 ORPHA:254864 ORPHA:663 OMIM:600175 OMIM:610505 ORPHA:178464 OMIM:608807 OMIM:603689 OMIM:611705 ORPHA:609 OMIM:616138 ORPHA:1145 OMIM:618775 OMIM:604173 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:616687 OMIM:167320 OMIM:310440 ORPHA:2388 OMIM:200150 OMIM:300842
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.