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:
Abnormality of circulating enzyme level (HP:0011021)

Parent Node:
Abnormal circulating creatine kinase concentration (HP:0040081)

..Starting node
..Elevated circulating creatine kinase concentration (HP:0003236)

Term ID:

3236

Name:

Elevated circulating creatine kinase concentration

Synonym:

Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase

Definition:

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Comments:

Reference:

HP:0003236

Genes and Diseases:

Child Nodes:

........

Mildly elevated creatine phosphokinase (HP:0008180)

........

Elevated creatine kinase after exercise (HP:0008331)

........

Highly elevated creatine phosphokinase (HP:0030234)

........

Extremely elevated creatine phosphokinase (HP:0030235)

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	786	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	900	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	786	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	900	27337	608662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	525	644	313700
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	479	644	313700
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	44	837	603150
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	42	837	603150
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	411	28596	610194
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	343	28596	610194
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	151	15685	605517
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	122	15685	605517
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	66	1152	604577
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	46	1243	601269
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	43	1243	601269
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAPN3 CL E G H	825	267				ORPHA	1	1142	1480	114240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAPN3 CL E G H	825	267				ORPHA	1	1047	1480	114240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1142	1480	114240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1047	1480	114240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CASQ1 CL E G H	844	88635				ORPHA	1	95	1512	114250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CASQ1 CL E G H	844	88635				ORPHA	1	47	1512	114250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	205	15559	615903
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	616209	Myopathy, isolated mitochondrial, autosomal dominant	616209	C4015513	OMIM	1	230	15559	615903
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	205	15559	615903
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHCHD10 CL E G H	400916	615048	Spinal muscular atrophy, jokela type	615048	C3554398	OMIM	1	230	15559	615903
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	335	1938	612395
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CHKB CL E G H	1120	602541	Muscular dystrophy, congenital, megaconial type	602541	C1865233	OMIM	1	382	1938	612395
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	177	2586	603432
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	176	2586	603432
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	17	13164	116955
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CNBP CL E G H	7555	602668	Myotonic dystrophy type 2	602668	C2931689	OMIM	1	16	13164	116955
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	254	18622	606978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COG7 CL E G H	91949	608779	COG7 congenital disorder of glycosylation	608779	C2931010	OMIM	1	211	18622	606978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	177	18623	606979
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COG8 CL E G H	84342	611182	Congenital disorder of glycosylation type 2H	611182	C1970021	OMIM	1	156	18623	606979
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1678	2188	120320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	75840				ORPHA	1	1367	2188	120320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1678	2188	120320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL12A1 CL E G H	1303	616471	Bethlem myopathy 2	616471	C4225313	OMIM	1	1367	2188	120320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	1010	2202	120130
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL4A1 CL E G H	1282	175780	Porencephaly 1	175780	CN032791	OMIM	1	837	2202	120130
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1342	2211	120220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	75840				ORPHA	1	1219	2211	120220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1342	2211	120220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A1 CL E G H	1291	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1219	2211	120220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1512	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	75840				ORPHA	1	1370	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1512	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1370	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1512	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A2 CL E G H	1292	255600	Myosclerosis, autosomal recessive	255600	C1850671	OMIM	1	1370	2212	120240
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	75840				ORPHA	1	2233	2213	120250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	75840				ORPHA	1	1971	2213	120250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	2233	2213	120250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COL6A3 CL E G H	1293	158810	Bethlem myopathy 1	158810	CN029274	OMIM	1	1971	2213	120250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	137	25223	609825
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	171	25223	609825
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	503	2328	600528
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT1A CL E G H	1374	255120	Carnitine palmitoyltransferase I deficiency	255120	C0342789	OMIM	1	452	2328	600528
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT2 CL E G H	1376	228302				ORPHA	1	505	2330	600650
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT2 CL E G H	1376	228302				ORPHA	1	618	2330	600650
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	618	2330	600650
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CPT2 CL E G H	1376	600649	Carnitine palmitoyltransferase II deficiency, infantile	600649	C1833511	OMIM	1	505	2330	600650
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	175	2389	123590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CRYAB CL E G H	1410	608810	Alpha-B crystallinopathy	608810	C1837317	OMIM	1	202	2389	123590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	175	2389	123590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	CRYAB CL E G H	1410	613869	Fatal infantile hypertonic myofibrillar myopathy	613869	C3151236	OMIM	1	202	2389	123590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	467	2666	128239
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DAG1 CL E G H	1605	613818	Limb-girdle muscular dystrophy-dystroglycanopathy, type C9	613818	C3151184	OMIM	1	376	2666	128239
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	376	2666	128239
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DAG1 CL E G H	1605	616538	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9	616538	C4225291	OMIM	1	467	2666	128239
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	156	2858	601465
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DGUOK CL E G H	1716	617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	617070	C4310733	OMIM	1	140	2858	601465
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	98896				ORPHA	1	6395	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	98896				ORPHA	1	5601	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	98895				ORPHA	1	6395	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	98895				ORPHA	1	5601	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	6395	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	300376	Becker muscular dystrophy	300376	C0917713	OMIM	1	5601	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	6395	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMD CL E G H	1756	310200	Duchenne muscular dystrophy	310200	C0013264	OMIM	1	5601	2928	300377
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMGDH CL E G H	29958	243343				ORPHA	1	88	24475	605849
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMGDH CL E G H	29958	243343				ORPHA	1	86	24475	605849
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMGDH CL E G H	29958	605850	Dimethylglycine dehydrogenase deficiency	605850	C1853892	OMIM	1	86	24475	605849
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DMGDH CL E G H	29958	605850	Dimethylglycine dehydrogenase deficiency	605850	C1853892	OMIM	1	88	24475	605849
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	223	2939	601810
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNA2 CL E G H	1763	615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	615156	C3554599	OMIM	1	290	2939	601810
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	346	14888	611332
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNAJB6 CL E G H	10049	603511	Limb-girdle muscular dystrophy, type 1E	603511	C3148763	OMIM	1	383	14888	611332
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	766	2974	602378
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	675	2974	602378
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	156	3005	603503
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM1 CL E G H	8813	608799	Congenital disorder of glycosylation type 1E	608799	C1837396	OMIM	1	188	3005	603503
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	123	3006	603564
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM2 CL E G H	8818	615042	Congenital disorder of glycosylation type 1u	615042	C3554385	OMIM	1	113	3006	603564
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	50	3007	605951
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DPM3 CL E G H	54344	612937	Congenital disorder of glycosylation type 1O	612937	C2752007	OMIM	1	59	3007	605951
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DUX4 CL E G H	100288687	269				ORPHA	1		50800	606009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	2358	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	253601	Limb-girdle muscular dystrophy, type 2B	253601	C1850889	OMIM	1	2129	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2358	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	254130	Miyoshi muscular dystrophy 1	254130	C1850808	OMIM	1	2129	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	2358	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	DYSF CL E G H	8291	606768	Myopathy, distal, with anterior tibial onset	606768	C1847532	OMIM	1	2129	3097	603009
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	657	3327	130160
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	704	3327	130160
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	EMD CL E G H	2010	98863				ORPHA	1	579	3331	300384
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	EMD CL E G H	2010	98863				ORPHA	1	530	3331	300384
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	530	3331	300384
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	EMD CL E G H	2010	310300	Emery-Dreifuss muscular dystrophy 1, X-linked	310300	C0751337	OMIM	1	579	3331	300384
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	130	3354	131370
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ENO3 CL E G H	2027	612932	Glycogen storage disease type 13	612932	C2752027	OMIM	1	157	3354	131370
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FAM111B CL E G H	374393	615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	615704	C3810325	OMIM	1	27	24200	615584
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	98863				ORPHA	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	98863				ORPHA	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300696	Myopathy with postural muscle atrophy, X-linked	300696	C2678055	OMIM	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300718	Myopathy, reducing body, X-linked, childhood-onset	300718	C2678015	OMIM	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300717	Myopathy, reducing body, X-linked, early-onset, severe	300717	C2678027	OMIM	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300695	Scapuloperoneal myopathy, X-linked dominant	300695	C2678061	OMIM	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	486	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FHL1 CL E G H	2273	300280	Uruguay faciocardiomusculoskeletal syndrome	300280	C1846010	OMIM	1	437	3702	300163
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKBP14 CL E G H	55033	300179				ORPHA	1	118	18625	614505
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKBP14 CL E G H	55033	300179				ORPHA	1	144	18625	614505
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	34515				ORPHA	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	588				ORPHA	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	34515				ORPHA	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	588				ORPHA	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	606612	Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5	606612	C1847759	OMIM	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	613153	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5	613153	C3150413	OMIM	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	607155	Limb-girdle muscular dystrophy-dystroglycanopathy, type C5	607155	C1846672	OMIM	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	671	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKRP CL E G H	79147	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	572	17997	606596
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	588				ORPHA	1	679	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	588				ORPHA	1	599	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	679	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	613152	Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4	613152	C2751052	OMIM	1	599	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	679	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	253800	Fukuyama congenital muscular dystrophy	253800	C0410174	OMIM	1	599	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	679	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	611588	Limb-girdle muscular dystrophy-dystroglycanopathy, type C4	611588	C1969040	OMIM	1	599	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	679	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FKTN CL E G H	2218	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	599	3622	607440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	2376	3756	102565
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FLNC CL E G H	2318	609524	Myofibrillar myopathy, filamin C-related	609524	C1836050	OMIM	1	2834	3756	102565
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FRG1 CL E G H	2483	269				ORPHA	1	123	3954	601278
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FRG1 CL E G H	2483	269				ORPHA	1	121	3954	601278
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	123	3954	601278
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	FRG1 CL E G H	2483	158900	Facioscapulohumeral muscular dystrophy	158900	C0238288	OMIM	1	121	3954	601278
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	1784	4065	606800
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	1592	4065	606800
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	588				ORPHA	1	203	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	363623				ORPHA	1	234	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	363623				ORPHA	1	203	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	588				ORPHA	1	234	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	203	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615350	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	615350	C3809216	OMIM	1	234	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	234	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615351	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	615351	C3809221	OMIM	1	203	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	203	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GMPPB CL E G H	29925	615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14	615352	C3714932	OMIM	1	234	22932	615320
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	682	23657	603824
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GNE CL E G H	10020	605820	Nonaka myopathy	605820	C1853926	OMIM	1	604	23657	603824
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	252	4431	604027
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GOSR2 CL E G H	9570	614018	Epilepsy, progressive myoclonic 6	614018	C3279627	OMIM	1	217	4431	604027
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	160	4659	601679
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	159	4659	601679
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	211	4661	604318
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	213	4661	604318
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HINT1 CL E G H	3094	324442				ORPHA	1	114	4912	601314
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HINT1 CL E G H	3094	324442				ORPHA	1	125	4912	601314
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HINT1 CL E G H	3094	137200	Neuromyotonia and axonal neuropathy, autosomal recessive	137200	CN074193	OMIM	1	125	4912	601314
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HINT1 CL E G H	3094	137200	Neuromyotonia and axonal neuropathy, autosomal recessive	137200	CN074193	OMIM	1	114	4912	601314
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA1 CL E G H	3178	52430				ORPHA	1	60	5031	164017
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA1 CL E G H	3178	52430				ORPHA	1	59	5031	164017
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	126	5033	600124
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	52430				ORPHA	1	155	5033	600124
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	155	5033	600124
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPA2B1 CL E G H	3181	615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2	615422	C3809468	OMIM	1	126	5033	600124
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	158	5037	607137
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HNRNPDL CL E G H	9987	609115	Limb-girdle muscular dystrophy, type 1G	609115	C1836765	OMIM	1	204	5037	607137
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HSPG2 CL E G H	3339	800				ORPHA	1	1600	5273	142461
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	HSPG2 CL E G H	3339	800				ORPHA	1	1327	5273	142461
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	153	33882	607875
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	INPP5K CL E G H	51763	617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	617404	C4479410	OMIM	1	145	33882	607875
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	100	29882	611911
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISCU CL E G H	23479	255125	Myopathy with lactic acidosis, hereditary	255125	C1850718	OMIM	1	82	29882	611911
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	545	37276	614631
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISPD CL E G H	729920	614643	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7	614643	C3553330	OMIM	1	549	37276	614631
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	545	37276	614631
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ISPD CL E G H	729920	616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	616052	C4015095	OMIM	1	549	37276	614631
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	523	6143	600536
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ITGA7 CL E G H	3679	613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	613204	C2750786	OMIM	1	628	6143	600536
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	972				ORPHA	1	390	6218	176260
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	972				ORPHA	1	438	6218	176260
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	160120	Episodic ataxia type 1	160120	C1719788	OMIM	1	438	6218	176260
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KCNA1 CL E G H	3736	160120	Episodic ataxia type 1	160120	C1719788	OMIM	1	390	6218	176260
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	79	26576	605739
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	KY CL E G H	339855	617114	Myopathy, myofibrillar, 7	617114	C4310711	OMIM	1	78	26576	605739
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	2739	6482	156225
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LAMA2 CL E G H	3908	607855	Merosin deficient congenital muscular dystrophy	607855	C1263858	OMIM	1	2327	6482	156225
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	726	6501	309060
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	672	6501	309060
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	588				ORPHA	1	597	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	588				ORPHA	1	516	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	597	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	613154	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6	613154	C3150414	OMIM	1	516	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	597	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	608840	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6	608840	C1837229	OMIM	1	516	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	597	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LARGE1 CL E G H	9215	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	516	6511	603590
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LDB3 CL E G H	11155	609452	Myofibrillar myopathy, ZASP-related	609452	C1836155	OMIM	1	888	15710	605906
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LDB3 CL E G H	11155	609452	Myofibrillar myopathy, ZASP-related	609452	C1836155	OMIM	1	796	15710	605906
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	139	6535	150000
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LDHA CL E G H	3939	612933	Glycogen storage disease XI	612933	C2752022	OMIM	1	132	6535	150000
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	197	6613	601329
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	196	6613	601329
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	196	16084	607908
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIMS2 CL E G H	55679	616827	Muscular dystrophy, limb-girdle, type 2W	616827	C4225192	OMIM	1	166	16084	607908
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIPE CL E G H	3991	435660				ORPHA	1	78	6621	151750
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LIPE CL E G H	3991	435660				ORPHA	1	82	6621	151750
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	98853				ORPHA	1	1486	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	98855				ORPHA	1	1486	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	264				ORPHA	1	1486	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	98853				ORPHA	1	1347	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	98855				ORPHA	1	1347	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	264				ORPHA	1	1347	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	613205	Congenital muscular dystrophy, LMNA-related	613205	C2750785	OMIM	1	1486	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	613205	Congenital muscular dystrophy, LMNA-related	613205	C2750785	OMIM	1	1347	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1486	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LMNA CL E G H	4000	616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	616516	C2750035	OMIM	1	1347	6636	150330
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LPIN1 CL E G H	23175	268200	Myoglobinuria, acute recurrent, autosomal recessive	268200	C1849386	OMIM	1	370	13345	605518
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LPIN1 CL E G H	23175	268200	Myoglobinuria, acute recurrent, autosomal recessive	268200	C1849386	OMIM	1	321	13345	605518
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LTBP4 CL E G H	8425	98896				ORPHA	1	405	6717	604710
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	LTBP4 CL E G H	8425	98896				ORPHA	1	474	6717	604710
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	249	6912	164015
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MATR3 CL E G H	9782	606070	Amyotrophic lateral sclerosis 21	606070	C3807521	OMIM	1	299	6912	164015
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MGME1 CL E G H	92667	352447				ORPHA	1	75	16205	615076
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MGME1 CL E G H	92667	352447				ORPHA	1	69	16205	615076
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	75	16205	615076
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MGME1 CL E G H	92667	615084	Mitochondrial DNA depletion syndrome 11	615084	C3554462	OMIM	1	69	16205	615076
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	1	135	1530	605084
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MICU1 CL E G H	10367	615673	Myopathy with extrapyramidal signs	615673	C3810285	OMIM	1	101	1530	605084
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MPZ CL E G H	4359	101082				ORPHA	1	522	7225	159440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MPZ CL E G H	4359	101082				ORPHA	1	493	7225	159440
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	67	29678	617619
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MSTO1 CL E G H	55154	617675	MYOPATHY, MITOCHONDRIAL, AND ATAXIA	617675	C4540096	OMIM	1	59	29678	617619
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	401	7530	251170
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MVK CL E G H	4598	610377	Mevalonic aciduria	610377	C1959626	OMIM	1	371	7530	251170
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	437572				ORPHA	1	3292	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	437572				ORPHA	1	2960	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	3292	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	255160	Myopathy, myosin storage, autosomal recessive	255160	C1850709	OMIM	1	2960	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	3292	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYH7 CL E G H	4625	608358	Myosin storage myopathy	608358	C1842160	OMIM	1	2960	7577	160760
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	98911				ORPHA	1	267	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	98911				ORPHA	1	246	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	266				ORPHA	1	267	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	266				ORPHA	1	246	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	267	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	609200	Myotilinopathy	609200	C1836607	OMIM	1	246	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	267	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	MYOT CL E G H	9499	182920	Spheroid body myopathy	182920	C1866785	OMIM	1	246	12399	604103
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	163	26274	612803
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	NARS2 CL E G H	79731	616239	Combined oxidative phosphorylation deficiency 24	616239	C4015643	OMIM	1	181	26274	612803
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	NOTCH3 CL E G H	4854	136				ORPHA	1	946	7883	600276
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	NOTCH3 CL E G H	4854	136				ORPHA	1	860	7883	600276
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	OCRL CL E G H	4952	300555	Dent disease 2	300555	C1845167	OMIM	1	475	8108	300535
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	OCRL CL E G H	4952	300555	Dent disease 2	300555	C1845167	OMIM	1	425	8108	300535
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	228	25896	610277
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	ORAI1 CL E G H	84876	615883	Myopathy, tubular aggregate, 2	615883	C4014557	OMIM	1	162	25896	610277
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PABPN1 CL E G H	8106	270				ORPHA	1	61	8565	602279
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	101	8889	612931
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PGAM2 CL E G H	5224	261670	Glycogen storage disease type X	261670	C0268149	OMIM	1	95	8889	612931
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PHKA1 CL E G H	5255	300559	Glycogen storage disease IXd	300559	C1845151	OMIM	1	384	8925	311870
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PHKA1 CL E G H	5255	300559	Glycogen storage disease IXd	300559	C1845151	OMIM	1	355	8925	311870
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	30	28213	610662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	34	28213	610662
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	513	9039	603604
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLA2G6 CL E G H	8398	612953	Parkinson disease 14	612953	C2751842	OMIM	1	431	9039	603604
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLEC CL E G H	5339	254361				ORPHA	1	3355	9069	601282
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLEC CL E G H	5339	254361				ORPHA	1	3842	9069	601282
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	3355	9069	601282
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PLEC CL E G H	5339	613723	Limb-girdle muscular dystrophy, type 2Q	613723	C3150989	OMIM	1	3842	9069	601282
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	391	30802	609059
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PNPLA2 CL E G H	57104	610717	Neutral lipid storage disease with myopathy	610717	C1853136	OMIM	1	334	30802	609059
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POGLUT1 CL E G H	56983	617232	Muscular dystrophy, limb-girdle, type 2z	617232	C4310660	OMIM	1	89	22954	615618
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POGLUT1 CL E G H	56983	617232	Muscular dystrophy, limb-girdle, type 2z	617232	C4310660	OMIM	1	81	22954	615618
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1712	9179	174763
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POLG CL E G H	5428	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	1470	9179	174763
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	133	9180	604983
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POLG2 CL E G H	11232	610131	Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	610131	C1864668	OMIM	1	204	9180	604983
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	588				ORPHA	1	662	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	588				ORPHA	1	797	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	662	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	613151	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3	613151	C3150412	OMIM	1	797	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	662	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	613157	Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	613157	C3150417	OMIM	1	797	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	797	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMGNT1 CL E G H	55624	253280	Muscle eye brain disease	253280	C0457133	OMIM	1	662	19139	606822
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	192	26267	615247
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMK CL E G H	84197	615249	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	615249	C3808964	OMIM	1	224	26267	615247
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	224	26267	615247
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMK CL E G H	84197	616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12	616094	C4015184	OMIM	1	192	26267	615247
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	86812				ORPHA	1	686	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	86812				ORPHA	1	609	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	588				ORPHA	1	686	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	588				ORPHA	1	609	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	609	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	613155	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1	613155	C3150415	OMIM	1	686	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	609	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	609308	Limb-girdle muscular dystrophy-dystroglycanopathy, type C1	609308	C1836373	OMIM	1	686	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	686	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT1 CL E G H	10585	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	609	9202	607423
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	588				ORPHA	1	604	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	588				ORPHA	1	691	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	691	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613150	Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2	613150	C3150411	OMIM	1	604	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	691	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613156	Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2	613156	C3150416	OMIM	1	604	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	691	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	613158	Limb-girdle muscular dystrophy-dystroglycanopathy, type C2	613158	C3150418	OMIM	1	604	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	691	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	POMT2 CL E G H	29954	236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1	236670	CN033898	OMIM	1	604	19743	607439
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PYGM CL E G H	5837	368				ORPHA	1	684	9726	608455
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PYGM CL E G H	5837	368				ORPHA	1	632	9726	608455
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	318	26162	617220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	PYROXD1 CL E G H	79912	617258	Myopathy, myofibrillar, 8	617258	C4310645	OMIM	1	229	26162	617220
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	263	15864	610924
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RBCK1 CL E G H	10616	615895	Polyglucosan body myopathy 1 with or without immunodeficiency	615895	C4014605	OMIM	1	312	15864	610924
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	174	9970	600404
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	175	9970	600404
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RYR1 CL E G H	6261	145600	Malignant hyperthermia, susceptibility to, 1	145600	CN031421	OMIM	1	4604	10483	180901
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	RYR1 CL E G H	6261	145600	Malignant hyperthermia, susceptibility to, 1	145600	CN031421	OMIM	1	4101	10483	180901
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SCN4A CL E G H	6329	682				ORPHA	1	1081	10591	603967
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SCN4A CL E G H	6329	682				ORPHA	1	1241	10591	603967
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	1087	445	608465
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SETX CL E G H	23064	606002	Spinocerebellar ataxia autosomal recessive 1	606002	C1853761	OMIM	1	941	445	608465
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	474	10805	600119
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCA CL E G H	6442	62	COG4 related congenital disorder of glycosylation, autosomal dominant			ORPHA	1	422	10805	600119
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	422	10805	600119
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCA CL E G H	6442	608099	Limb-girdle muscular dystrophy, type 2D	608099	C2936332	OMIM	1	474	10805	600119
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCB CL E G H	6443	119				ORPHA	1	374	10806	600900
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCB CL E G H	6443	119				ORPHA	1	327	10806	600900
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	327	10806	600900
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCB CL E G H	6443	604286	Limb-girdle muscular dystrophy, type 2E	604286	C1858593	OMIM	1	374	10806	600900
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	510	10807	601411
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCD CL E G H	6444	601287	Limb-girdle muscular dystrophy, type 2F	601287	C1832525	OMIM	1	546	10807	601411
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	452	10809	608896
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCG CL E G H	6445	353	Kozlowski Warren Fisher syndrome			ORPHA	1	409	10809	608896
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	452	10809	608896
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SGCG CL E G H	6445	253700	Severe autosomal recessive muscular dystrophy of childhood - North African type	253700	C0410173	OMIM	1	409	10809	608896
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	217	24624	608005
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SIL1 CL E G H	64374	248800	Marinesco-Sjögren syndrome	248800	C0024814	OMIM	1	206	24624	608005
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SLC16A1 CL E G H	6566	245340	Erythrocyte lactate transporter defect	245340	C1855577	OMIM	1	148	10922	600682
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SLC16A1 CL E G H	6566	245340	Erythrocyte lactate transporter defect	245340	C1855577	OMIM	1	133	10922	600682
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	134	1421	613698
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SLC25A20 CL E G H	788	212138	Carnitine acylcarnitine translocase deficiency	212138	C0342791	OMIM	1	118	1421	613698
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SMCHD1 CL E G H	23347	269				ORPHA	1	724	29090	614982
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SMCHD1 CL E G H	23347	269				ORPHA	1	859	29090	614982
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SQSTM1 CL E G H	8878	617158	Distal myopathy with rimmed vacuoles	617158	CN239822	OMIM	1	473	11280	601530
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SQSTM1 CL E G H	8878	617158	Distal myopathy with rimmed vacuoles	617158	CN239822	OMIM	1	383	11280	601530
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	452	11386	605921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	STIM1 CL E G H	6786	160565	Myopathy with tubular aggregates	160565	C0410207	OMIM	1	379	11386	605921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	452	11386	605921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	STIM1 CL E G H	6786	185070	Stormorken syndrome	185070	C1861451	OMIM	1	379	11386	605921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	244	11448	603921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	277	11448	603921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	277	11448	603921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SUCLA2 CL E G H	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	612073	C2749864	OMIM	1	244	11448	603921
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	98853				ORPHA	1	4170	17089	608441
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	98853				ORPHA	1	3641	17089	608441
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	4170	17089	608441
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE1 CL E G H	23345	612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	612998	C2751807	OMIM	1	3641	17089	608441
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	98853				ORPHA	1	2222	17084	608442
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	98853				ORPHA	1	1875	17084	608442
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	1875	17084	608442
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNE2 CL E G H	23224	612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	612999	C2751805	OMIM	1	2222	17084	608442
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	909	11503	604297
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	730	11503	604297
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	550	25439	616830
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TANGO2 CL E G H	128989	616878	TANGO2-Related Metabolic Encephalopathy and Arrhythmias	616878	C4225171	OMIM	1	480	25439	616830
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	162	11586	605842
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	161	11586	605842
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	226	11610	604488
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TCAP CL E G H	8557	601954	Limb-girdle muscular dystrophy, type 2G	601954	C1866008	OMIM	1	200	11610	604488
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	299	11831	188250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TK2 CL E G H	7084	609560	Mitochondrial DNA depletion syndrome 2	609560	C3149750	OMIM	1	230	11831	188250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	299	11831	188250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TK2 CL E G H	7084	617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	617069	C4310734	OMIM	1	230	11831	188250
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	108	30760	614726
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	91	30760	614726
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TMEM43 CL E G H	79188	98853				ORPHA	1	653	28472	612048
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TMEM43 CL E G H	79188	98853				ORPHA	1	585	28472	612048
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	673	25751	614138
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRAPPC11 CL E G H	60684	615356	Limb-girdle muscular dystrophy, type 2S	615356	C3809236	OMIM	1	573	25751	614138
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	482	16380	602290
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	1878	Chromosome 1, uniparental disomy 1q12 q21		CN035970	ORPHA	1	410	16380	602290
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	482	16380	602290
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRIM32 CL E G H	22954	254110	Sarcotubular myopathy	254110	C0270968	OMIM	1	410	16380	602290
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	703	18083	605427
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TRPV4 CL E G H	59341	600175	Distal spinal muscular atrophy, congenital nonprogressive	600175	C1838492	OMIM	1	781	18083	605427
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	183	12367	604723
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	244	12367	604723
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TTN CL E G H	7273	178464				ORPHA	1	17984	12403	188840
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TTN CL E G H	7273	178464				ORPHA	1	19028	12403	188840
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	19028	12403	188840
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TTN CL E G H	7273	608807	Limb-girdle muscular dystrophy, type 2J	608807	C1837342	OMIM	1	17984	12403	188840
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	234	1160	606075
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	TWNK CL E G H	56652	607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	607459	C1843851	OMIM	1	270	1160	606075
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VCP CL E G H	7415	52430				ORPHA	1	395	12666	601023
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VCP CL E G H	7415	52430				ORPHA	1	356	12666	601023
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	395	12666	601023
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VCP CL E G H	7415	167320	Inclusion body myopathy with early-onset paget disease and frontotemporal dementia	167320	C1833662	OMIM	1	356	12666	601023
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	230	22082	300913
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VMA21 CL E G H	203547	310440	Myopathy, X-linked, with excessive autophagy	310440	C1839615	OMIM	1	223	22082	300913
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VPS13A CL E G H	23230	2388				ORPHA	1	1374	1908	605978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VPS13A CL E G H	23230	2388				ORPHA	1	1246	1908	605978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1374	1908	605978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	VPS13A CL E G H	23230	200150	Choreoacanthocytosis	200150	C0393576	OMIM	1	1246	1908	605978
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	190	12811	314850
HP:0003236	HP:0003236	Elevated circulating creatine kinase concentration	0	XK CL E G H	7504	300842	McLeod neuroacanthocytosis syndrome	300842	C0398568	OMIM	1	195	12811	314850
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	1116	92	609575
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ACADVL CL E G H	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	201475	C3887523	OMIM	1	978	92	609575
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	362	129	102610
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ACTA1 CL E G H	58	97240				ORPHA	1	325	129	102610
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1529	321	610860
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AGL CL E G H	178	232400	Glycogen storage disease type III	232400	C0017922	OMIM	1	1299	321	610860
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	126	343	180960
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AHCY CL E G H	191	88618				ORPHA	1	113	343	180960
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	413	8768	300169
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AIFM1 CL E G H	9131	310490	Cowchock syndrome	310490	C0795910	OMIM	1	450	8768	300169
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	786	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	206549				ORPHA	1	900	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	786	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	786	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	900	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	900	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	786	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	786	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	900	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	611307	Limb-girdle muscular dystrophy, type 2L	611307	C1969785	OMIM	1	900	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	786	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	786	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	900	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	900	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	786	27337	608662
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	786	27337	608662
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	900	27337	608662
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ANO5 CL E G H	203859	613319	Miyoshi muscular dystrophy 3	613319	C2750076	OMIM	1	900	27337	608662
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	713	22197	613653
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AP5Z1 CL E G H	9907	306511				ORPHA	1	780	22197	613653
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	479	644	313700
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	479	644	313700
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	525	644	313700
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	525	644	313700
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	479	644	313700
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	479	644	313700
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	525	644	313700
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	AR CL E G H	367	313200	Bulbo-spinal atrophy X-linked	313200	C1839259	OMIM	1	525	644	313700
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	44	837	603150
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	44	837	603150
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	42	837	603150
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	42	837	603150
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	44	837	603150
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	44	837	603150
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	42	837	603150
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	ATP5F1D CL E G H	513	618120	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5	618120	CN253835	OMIM	1	42	837	603150
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	343	28596	610194
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	411	28596	610194
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	343	28596	610194
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	343	28596	610194
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	411	28596	610194
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	411	28596	610194
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	343	28596	610194
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	343	28596	610194
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	411	28596	610194
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B3GALNT2 CL E G H	148789	615181	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11	615181	C3554638	OMIM	1	411	28596	610194
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	141	924	137060
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B4GALT1 CL E G H	2683	607091	Congenital disorder of glycosylation type 2D	607091	C1846816	OMIM	1	146	924	137060
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	122	15685	605517
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	122	15685	605517
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	151	15685	605517
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	151	15685	605517
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	122	15685	605517
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	122	15685	605517
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	151	15685	605517
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	B4GAT1 CL E G H	11041	615287	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13	615287	C3809042	OMIM	1	151	15685	605517
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	603	939	603883
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	BAG3 CL E G H	9531	612954	Myofibrillar myopathy, BAG3-related	612954	C2751831	OMIM	1	738	939	603883
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	191	961	605681
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	192	961	605681
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	66	1152	604577
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	66	1152	604577
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	66	1152	604577
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	BVES CL E G H	11149	616812	Muscular dystrophy, limb-girdle, type 2X	616812	C4225199	OMIM	1	66	1152	604577
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	240	25443	614297
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	C19orf12 CL E G H	83636	614298	Neurodegeneration with brain iron accumulation 4	614298	C3280371	OMIM	1	248	25443	614297
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	46	1243	601269
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	46	1243	601269
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	43	1243	601269
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	43	1243	601269
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	46	1243	601269
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	46	1243	601269
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	43	1243	601269
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	C1QBP CL E G H	708	617713	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33	617713	C4540209	OMIM	1	43	1243	601269
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAPN3 CL E G H	825	267				ORPHA	1	1142	1480	114240
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1142	1480	114240
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAPN3 CL E G H	825	267				ORPHA	1	1047	1480	114240
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1047	1480	114240
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1142	1480	114240
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1142	1480	114240
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1047	1480	114240
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAPN3 CL E G H	825	267				ORPHA	1	1047	1480	114240
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1142	1480	114240
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1142	1480	114240
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1047	1480	114240
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1047	1480	114240
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1142	1480	114240
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1142	1480	114240
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1047	1480	114240
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAPN3 CL E G H	825	253600	Limb-girdle muscular dystrophy, type 2A	253600	C1869123	OMIM	1	1047	1480	114240
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	95	1512	114250
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CASQ1 CL E G H	844	88635				ORPHA	1	95	1512	114250
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	47	1512	114250
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CASQ1 CL E G H	844	88635				ORPHA	1	47	1512	114250
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	95	1512	114250
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	95	1512	114250
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	47	1512	114250
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CASQ1 CL E G H	844	88635				ORPHA	1	47	1512	114250
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	47	1512	114250
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CASQ1 CL E G H	844	616231	Myopathy, vacuolar, with casq1 aggregates	616231	C4015624	OMIM	1	95	1512	114250
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	335	1529	601253
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	614321	Distal myopathy, Tateyama type	614321	C3280443	OMIM	1	354	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	354	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	123320	Elevated serum creatine phosphokinase	123320	C0241005	OMIM	1	335	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	335	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAV3 CL E G H	859	606072	Rippling muscle disease	606072	C1853698	OMIM	1	354	1529	601253
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0003236	HP:0008331	Elevated creatine kinase after exercise	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0003236	HP:0030234	Highly elevated creatine kinase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	109	9688	603198
HP:0003236	HP:0030235	Extremely elevated creatine kinase	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	110	9688	603198
HP:0003236	HP:0008180	Mildly elevated creatine kinase	1	CAVIN1 CL E G H	284119