Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormality of circulating enzyme level (HP:0011021)

..Starting node
..Abnormal circulating creatine kinase concentration (HP:0040081)

Term ID:

40081

Name:

Abnormal circulating creatine kinase concentration

Synonym:

Abnormal circulating CK concentration; Abnormal circulating CPK concentration; Abnormal circulation phospho-CK concentration; Abnormal levels of creatine kinase in blood

Definition:

Any deviation from the normal circulating creatine kinase concentration.

Comments:

Reference:

HP:0040081

Genes and Diseases:

Child Nodes:

........

Elevated serum creatine phosphokinase (HP:0003236)

................... HP:0008180 Mildly elevated creatine phosphokinase
................... HP:0008331 Elevated creatine kinase after exercise
................... HP:0030234 Highly elevated creatine phosphokinase
................... HP:0030235 Extremely elevated creatine phosphokinase

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy		254
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent	90
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy		208
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy		307
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome		60
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency		50
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy		95
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy		304
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3		304
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48		165
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1		125
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease		43
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy		204
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4		114
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1		323
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4		323
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CASQ1 CL E G H	844	1512	ORPHA:88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAV3 CL E G H	859	1529	ORPHA:206599	Isolated asymptomatic elevation of creatine phosphokinase		148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type		148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4		48
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy		442
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1		442
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		442
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy		478
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1		478
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		478
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy		702
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1		702
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type		702
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency		99
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related		46
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy		104
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy		263
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency		27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy		79
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy		55
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy		358
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy		747
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040281 - Very frequent	600
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2		600
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1		600
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B		600
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset		600
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked		107
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		107
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis		6
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy		36
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5		157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4		184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant		197
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6		88
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy		2
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive		12
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		31
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability		7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency		127
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		124
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1		145
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity		145
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040282 - Frequent	3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy		279
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy		286
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4		286
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy		7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6		7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related		645
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent		95
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy		92
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21		80
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B		134
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy		1143
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy		452
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy		75
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body		75
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY		75
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy		217
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G		118
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy		167
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5		84
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2		19
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of		26
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked		54
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		54
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency		48
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q		759
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy		57
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z		6
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8		33
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11		213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14		221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy		148
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy		241
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy		59
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency		166
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy		212
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy		363
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2		3
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040283 - Occasional	1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis		263
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated		263
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy		1134
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy		304
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3		132
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D		132
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E		113
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy		223
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F		223
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5		83
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C		83
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040281 - Very frequent	67
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome		67
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect		74
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy		174
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1		31
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome		31
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria		66
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		1129
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant		1129
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		508
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant		508
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53		9
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome		12
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy		78
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G		78
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy		171
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy		136
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy		73
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy		180
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy		230
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18		27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent	27
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive		214
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5		113
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy		85
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy		248
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia		63
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy		10
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0040081	HP:0040081	Abnormal circulating creatine kinase concentration	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome		8
HP:0040081	HP:0032234	Increased circulating creatine kinase MM isoform	1	CL E G H
HP:0040081	HP:0032233	Increased circulating creatine kinase BB isoform	1	CL E G H
HP:0040081	HP:0025659	Decreased circulating creatine kinase concentration	1	CL E G H
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	254
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.	200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	96
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent	96
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	208
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	307
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6		307
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.	60
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency		50
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII		50
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	12
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14		46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	95
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent	304
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy		304
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.	304
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	HP:0040282 - Frequent	304
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent	165
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia		61
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	43
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	204
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant		46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy		99
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis		247
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis		247
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent	323
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.	323
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	.	323
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CASQ1 CL E G H	844	1512	ORPHA:88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	HP:0040281 - Very frequent	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAV3 CL E G H	859	1529	ORPHA:206599	Isolated asymptomatic elevation of creatine phosphokinase		148
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	.	148
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAV3 CL E G H	859	1529	OMIM:606072	Rippling muscle disease		148
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.	48
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	HP:0040283 - Occasional	3
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.	53
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2		65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	442
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.	442
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	442
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	478
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.	478
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	478
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.	478
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent	702
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.	702
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent	702
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy		137
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.	54
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040283 - Occasional	101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent	101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile		101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii		46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.	46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CRYAB CL E G H	1410	2389	OMIM:613869	Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related	.	46
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	104
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040281 - Very frequent	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	263
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0040081	HP:0032232	Increased circulating creatine kinase MB isoform	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B		1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.	1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers		1496
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMGDH CL E G H	29958	24475	ORPHA:243343	Dimethylglycine dehydrogenase deficiency	HP:0040281 - Very frequent	27
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DMGDH CL E G H	29958	24475	OMIM:605850	DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD		27
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.	41
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.	103
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy		167
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.	167
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	79
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	55
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	38
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040281 - Very frequent	27
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG		9
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15		9
HP:0040081	HP:0032232	Increased circulating creatine kinase MB isoform	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	358
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	747
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040281 - Very frequent	600
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.	600
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.	600
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset	.	600
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	EMD CL E G H	2010	3331	OMIM:310300	Emery-Dreifuss muscular dystrophy 1, X-linked	.	107
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	107
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ENO3 CL E G H	2027	3354	OMIM:612932	Glycogen storage disease XIII	.	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.	6
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	36
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent	13
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040281 - Very frequent	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.	157
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X		184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	.	184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.	184
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	HP:0040283 - Occasional	18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.	197
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4		197
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent	407
HP:0040081	HP:0032232	Increased circulating creatine kinase MB isoform	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040282 - Frequent	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy		173
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2		18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency		99
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency		60
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	2
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3		31
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	.	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.	7
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	HP:0040284 - Very rare	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.	127
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6		80
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KCNA1 CL E G H	3736	6218	ORPHA:972	Hereditary continuous muscle fiber activity	HP:0040281 - Very frequent	145
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis		73
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis		10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	13
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional	35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient		411
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23		411
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	279
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.	136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	286
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.	286
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency		35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LDHA CL E G H	3939	6535	OMIM:612933	Glycogen storage disease XI	.	35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W		10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	HP:0040283 - Occasional	7
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.	645
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.	95
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent	92
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.	80
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy		80
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs	.	14
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent	134
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy		7
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1143
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy		19
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss		227
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	452
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent	1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.	1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.	1269
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent	75
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040282 - Frequent	75
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.	75
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	217
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.	34
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	745
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC		24
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E		118
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.	118
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	167
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	HP:0040283 - Occasional	84
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	OCRL CL E G H	4952	8108	OMIM:300555	Dent disease 2		88
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.	19
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040281 - Very frequent	10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040282 - Frequent	4
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PGAM2 CL E G H	5224	8889	OMIM:261670	Phosphoglycerate mutase, muscle, deficiency of	.	26
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.	54
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	54
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional	48
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.	759
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent	759
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C		186
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	57
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.	6
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.	180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.	33
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.	18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent	213
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040281 - Very frequent	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040281 - Very frequent	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040281 - Very frequent	221
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	148
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	241
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	59
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V		166
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	212
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.	10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	363
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	HP:0040283 - Occasional	3
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy		1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare	1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis		263
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SCN4A CL E G H	6329	10591	OMIM:608390	Myotonia, potassium-aggravated	HP:0040283 - Occasional	263
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	1134
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	304
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent	132
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.	132
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.	113
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	223
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.	223
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent	83
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.	83
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.	67
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC16A1 CL E G H	6566	10922	OMIM:245340	Erythrocyte lactate transporter defect	.	74
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.	40
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	.	1
HP:0040081	HP:0032232	Increased circulating creatine kinase MB isoform	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	174
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SQOR CL E G H	58472	20390	OMIM:619221	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type		62
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.	31
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10		1
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	1129
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.	1129
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	508
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.	508
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040281 - Very frequent	12
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	78
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.	78
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type		5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy		5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040284 - Very rare	103
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040281 - Very frequent	171
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	136
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	HP:0040283 - Occasional	5
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	73
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	180
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	HP:0040283 - Occasional	10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	230
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional	54
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.	27
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome		4
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.	214
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent	7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10		7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure		7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	HP:0040283 - Occasional	7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy		7128
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	113
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TWNK CL E G H	56652	1160	OMIM:616138	Perrault syndrome 5		113
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	85
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia		8
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040283 - Occasional	248
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia		63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional	63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	OMIM:616687	Charcot-Marie-Tooth disease, axonal, type 2Y	HP:0040283 - Occasional	63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.	63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.	10
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0040081	HP:0003236	Elevated circulating creatine kinase concentration	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	96
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent	50
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	HP:0040283 - Occasional	46
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040282 - Frequent	304
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	99
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	247
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	247
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent	3
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.	137
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	167
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.	91
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent	9
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	DPM3 CL E G H	54344	3007	OMIM:618992	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15		9
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	157
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	184
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.	197
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent	173
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	80
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	73
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent	10
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	13
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent	411
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent	35
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.	645
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent	80
HP:0040081	HP:0030235	Extremely elevated creatine kinase	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040283 - Occasional	14
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE		56
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	7
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	19
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent	227
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.	1269
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage		1269
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	217
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	745
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.	745
HP:0040081	HP:0030235	Extremely elevated creatine kinase	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent	118
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.	186
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent	213
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0040081	HP:0030234	Highly elevated creatine kinase	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040281 - Very frequent	166
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent	1200
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent	263
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0040081	HP:0008331	Elevated creatine kinase after exercise	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent	40
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	62
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040282 - Frequent	5
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.	5
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	54
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional	108
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent	101
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent	7128
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0040081	HP:0008180	Mildly elevated creatine kinase	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63

Genes (319) :ABCC9 ABHD5 ACAD9 ACADM ACADVL ACTA1 ACTC1 ACTN2 ADK ADSS1 AGL 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 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 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 (385) :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: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 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 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.

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