Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040281 - Very frequent | | | 15 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | | | | 216 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AGXT CL E G H | 189 | 341 | ORPHA:93598 | Primary hyperoxaluria type 1 | HP:0040281 - Very frequent | | | 260 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | | | | 60 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 12 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | | | | 43 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | | | | 43 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | | | | 85 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | | | | 323 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:206599 | Isolated asymptomatic elevation of creatine phosphokinase | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | | | | 53 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | | | | 478 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | | | | 99 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:615184 | Cardiomyopathy, dilated, 1ii | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | | | | 46 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DCXR CL E G H | 51181 | 18985 | ORPHA:2843 | Pentosuria | HP:0040281 - Very frequent | | | 2 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | OMIM:302045 | Cardiomyopathy, dilated, 3B | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMGDH CL E G H | 29958 | 24475 | ORPHA:243343 | Dimethylglycine dehydrogenase deficiency | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DMGDH CL E G H | 29958 | 24475 | OMIM:605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | | | | 167 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 79 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 38 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | | | | 600 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | | | | 600 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | | | | 6 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | | | | 197 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | | | | 197 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | | | | 128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 124 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | | | | 145 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | | | | 145 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 279 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | | | | 211 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 286 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | | | | 286 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 92 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | | | | 134 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1143 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 452 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | | | | 75 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 217 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | | | | 34 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | | | | 118 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 167 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PABPN1 CL E G H | 8106 | 8565 | ORPHA:270 | Oculopharyngeal muscular dystrophy | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | | | | 26 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 54 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 48 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 759 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | | | | 759 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 57 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | | | | 6 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | | | | 33 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 148 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 241 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 59 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 212 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 363 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | | | | 3 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | | | | 263 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1134 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 304 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | | 132 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | | 113 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 223 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | | | | 83 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | | | | 67 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | | | | 67 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | | | | 74 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 174 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | | | | 66 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SUGCT CL E G H | 79783 | 16001 | ORPHA:35706 | Glutaric acidemia type 3 | HP:0040281 - Very frequent | | | 8 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | | | | 1129 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | | | | 508 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | | | | 9 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 78 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | | | | 18 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | | | | 103 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 136 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 73 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 180 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 230 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | | | | 27 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | | | | 108 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | | | | 7128 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 85 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0011021 | Abnormality of circulating enzyme level | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 254 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 208 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 307 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | | | | 216 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | | | | 60 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 12 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 95 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | | | | 125 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | | | | 43 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | | | | 43 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | | | | 85 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 204 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | | | | 114 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | | | | 323 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CASQ1 CL E G H | 844 | 1512 | ORPHA:88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:206599 | Isolated asymptomatic elevation of creatine phosphokinase | | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | | | | 48 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | | | | 3 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | | | | 53 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | | | | 478 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | | | | 99 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040282 - Frequent | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:615184 | Cardiomyopathy, dilated, 1ii | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | | | | 46 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 104 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 263 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | OMIM:302045 | Cardiomyopathy, dilated, 3B | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMGDH CL E G H | 29958 | 24475 | ORPHA:243343 | Dimethylglycine dehydrogenase deficiency | | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DMGDH CL E G H | 29958 | 24475 | OMIM:605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | | | | 41 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | | | | 167 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 79 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 55 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 38 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | | | | 26 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | | | | 26 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 358 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 747 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040281 - Very frequent | | | 600 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | | | | 600 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | | | | 600 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | | | | 107 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | | | | 6 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 36 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | | | | 197 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | | | | 197 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | | | | 407 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | | | | 128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 2 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | | | | 127 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 124 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | | | | 145 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | | | | 145 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 279 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | | | | 211 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 286 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | | | | 286 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | | | | 92 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | | | | 134 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1143 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 452 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | | | | 75 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | | | | 75 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 217 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | | | | 34 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | | | | 118 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 167 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | | | | 84 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PABPN1 CL E G H | 8106 | 8565 | ORPHA:270 | Oculopharyngeal muscular dystrophy | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | | | | 26 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 54 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | | | | 48 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | | | | 759 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | | | | 759 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 57 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | | | | 6 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 464 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | | | | 45 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | | | | 33 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 213 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 221 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 148 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 241 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 59 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 212 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 363 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | | | | 3 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040283 - Occasional | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | | | | 263 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 1134 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 304 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | | 132 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | | 113 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | | | | 113 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 223 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | | | | 83 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | | | | 67 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | | | | 74 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 174 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | | | | 31 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | | | | 66 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | | | | 66 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | | | | 1129 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | | | | 508 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | | | | 9 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 78 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | | | | 18 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | | | | 103 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | | | | 103 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | | | | 24 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 136 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | | | | 5 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 73 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 180 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 230 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | | | | 108 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | | | | 7128 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 85 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | | | | 248 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | | | | 130 | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0011021 | HP:0040081 | Abnormal circulating creatine kinase concentration | 1 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | | | | 8 | | |
HP:0011021 | HP:0032234 | Increased circulating creatine kinase MM isoform | 2 | CL E G H | | | | | | | | | | |
HP:0011021 | HP:0032233 | Increased circulating creatine kinase BB isoform | 2 | CL E G H | | | | | | | | | | |
HP:0011021 | HP:0025659 | Decreased circulating creatine kinase concentration | 2 | CL E G H | | | | | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 254 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | | | | 98 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACADVL CL E G H | 37 | 92 | ORPHA:26793 | Very long chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 208 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 307 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | | | | 26 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:310490 | Cowchock syndrome | . | | | 60 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 95 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | HP:0040282 - Frequent | | | 304 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040282 - Frequent | | | 165 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | | | 61 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ATP5F1D CL E G H | 513 | 837 | OMIM:618120 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 5 | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 43 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 204 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | . | | | 114 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | . | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CASQ1 CL E G H | 844 | 1512 | ORPHA:88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | HP:0040281 - Very frequent | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAV3 CL E G H | 859 | 1529 | ORPHA:206599 | Isolated asymptomatic elevation of creatine phosphokinase | | | | 148 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | . | | | 148 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | | | | 148 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CCDC115 CL E G H | 84317 | 28178 | OMIM:616828 | Congenital disorder of glycosylation, type IIO | HP:0040283 - Occasional | | | 3 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 442 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 442 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 442 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 478 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 478 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A2 CL E G H | 1292 | 2212 | OMIM:255600 | Myosclerosis, autosomal recessive | . | | | 478 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 478 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 702 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 702 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | | | | 702 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | | | | 137 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT1A CL E G H | 1374 | 2328 | OMIM:255120 | Carnitine palmitoyltransferase I deficiency | . | | | 99 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040283 - Occasional | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:600649 | Carnitine palmitoyltransferase II deficiency, infantile | | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRPPA CL E G H | 729920 | 37276 | OMIM:616052 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRYAB CL E G H | 1410 | 2389 | OMIM:615184 | Cardiomyopathy, dilated, 1ii | | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CRYAB CL E G H | 1410 | 2389 | OMIM:613869 | Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | . | | | 46 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 104 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040281 - Very frequent | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 263 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0011021 | HP:0032232 | Increased circulating creatine kinase MB isoform | 2 | DMD CL E G H | 1756 | 2928 | OMIM:302045 | Cardiomyopathy, dilated, 3B | | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | . | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | . | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMGDH CL E G H | 29958 | 24475 | ORPHA:243343 | Dimethylglycine dehydrogenase deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DMGDH CL E G H | 29958 | 24475 | OMIM:605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | | | | 27 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040281 - Very frequent | | | 79 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 55 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040281 - Very frequent | | | 27 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM2 CL E G H | 8818 | 3006 | OMIM:615042 | Congenital disorder of glycosylation, type Iu | . | | | 26 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM2 CL E G H | 8818 | 3006 | ORPHA:329178 | Congenital muscular dystrophy with intellectual disability and severe epilepsy | HP:0040282 - Frequent | | | 26 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | | | | 9 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0011021 | HP:0032232 | Increased circulating creatine kinase MB isoform | 2 | DSG2 CL E G H | 1829 | 3049 | OMIM:610193 | Arrhythmogenic right ventricular dysplasia, familial, 10 | | | | 358 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 358 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 747 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040281 - Very frequent | | | 600 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | . | | | 600 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 107 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FAM111B CL E G H | 374393 | 24200 | OMIM:615704 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis | . | | | 6 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | HP:0040284 - Very rare | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300717 | Myopathy, reducing body, X-linked, early-onset, severe | . | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040281 - Very frequent | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:611615 | Cardiomyopathy, dilated, 1X | | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | . | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FKTN CL E G H | 2218 | 3622 | OMIM:611588 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | . | | | 184 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | HP:0040283 - Occasional | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | | | | 197 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040281 - Very frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040281 - Very frequent | | | 407 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | . | | | 407 | | |
HP:0011021 | HP:0032232 | Increased circulating creatine kinase MB isoform | 2 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | | | | 128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040282 - Frequent | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GMPPB CL E G H | 29925 | 22932 | OMIM:615352 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | . | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | . | | | 88 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | . | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | INPP5K CL E G H | 51763 | 33882 | OMIM:617404 | Muscular dystrophy, congenital, with cataracts and intellectual disability | . | | | 7 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | HP:0040284 - Very rare | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ITGA7 CL E G H | 3679 | 6143 | OMIM:613204 | Muscular dystrophy, congenital, due to integrin alpha-7 deficiency | . | | | 127 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ITGB4 CL E G H | 3691 | 6158 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 124 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KCNA1 CL E G H | 3736 | 6218 | OMIM:160120 | Episodic ataxia, type 1 | . | | | 145 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:972 | Hereditary continuous muscle fiber activity | HP:0040281 - Very frequent | | | 145 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 279 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | . | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 286 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LIMS2 CL E G H | 55679 | 16084 | OMIM:616827 | Muscular dystrophy, limb-girdle, type 2W | | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | HP:0040283 - Occasional | | | 7 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:616516 | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | . | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | LTBP4 CL E G H | 8425 | 6717 | ORPHA:98896 | Duchenne muscular dystrophy | HP:0040281 - Very frequent | | | 92 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | . | | | 80 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | . | | | 14 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MPZ CL E G H | 4359 | 7225 | ORPHA:101082 | Charcot-Marie-Tooth disease type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1143 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | | | | 227 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 452 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040282 - Frequent | | | 75 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:617882 | Charcot-Marie-Tooth disease, dominant intermediate G | . | | | 118 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | NSUN2 CL E G H | 54888 | 25994 | OMIM:611091 | Mental retardation, autosomal recessive 5 | HP:0040283 - Occasional | | | 84 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | OCRL CL E G H | 4952 | 8108 | OMIM:300555 | Dent disease 2 | | | | 88 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PABPN1 CL E G H | 8106 | 8565 | ORPHA:270 | Oculopharyngeal muscular dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040282 - Frequent | | | 4 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PET100 CL E G H | 100131801 | 40038 | OMIM:619055 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12 | | | | 6 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PGM1 CL E G H | 5236 | 8905 | OMIM:614921 | Congenital disorder of glycosylation, type It | | | | 58 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:158684 | Epidermolysis bullosa simplex with pyloric atresia | HP:0040282 - Frequent | | | 759 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | | | | 186 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 57 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | . | | | 6 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 464 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMGNT2 CL E G H | 84892 | 25902 | OMIM:618135 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 | . | | | 33 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMK CL E G H | 84197 | 26267 | OMIM:615249 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | . | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | . | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040282 - Frequent | | | 213 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040281 - Very frequent | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040281 - Very frequent | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | OMIM:613158 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | . | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040281 - Very frequent | | | 221 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 148 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 241 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 166 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 212 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 363 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040284 - Very rare | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | . | | | 1200 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040281 - Very frequent | | | 263 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | HP:0040283 - Occasional | | | 263 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1134 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 304 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 162 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCB CL E G H | 6443 | 10806 | OMIM:604286 | Muscular dystrophy, limb-girdle, type 2E | . | | | 113 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 223 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SGCG CL E G H | 6445 | 10809 | OMIM:253700 | Muscular dystrophy, limb-girdle, type 2C | . | | | 83 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | . | | | 74 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | | | | 207 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC25A20 CL E G H | 788 | 1421 | OMIM:212138 | Carnitine-acylcarnitine translocase deficiency | . | | | 40 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | | | | 40 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC25A42 CL E G H | 284439 | 28380 | OMIM:618416 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | . | | | 1 | | |
HP:0011021 | HP:0032232 | Increased circulating creatine kinase MB isoform | 2 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040281 - Very frequent | | | 174 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SQOR CL E G H | 58472 | 20390 | OMIM:619221 | SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY; SQORD | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | HP:0040281 - Very frequent | | | 66 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 1129 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SYNE1 CL E G H | 23345 | 17089 | OMIM:612998 | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | . | | | 1129 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 508 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SYNE2 CL E G H | 23224 | 17084 | OMIM:612999 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | . | | | 508 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | SYNJ1 CL E G H | 8867 | 11503 | OMIM:617389 | Epileptic encephalopathy, early infantile, 53 | . | | | 9 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 78 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | | | | 18 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TIMM22 CL E G H | 29928 | 17317 | OMIM:618851 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040284 - Very rare | | | 103 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | . | | | 103 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 171 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 136 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TMTC3 CL E G H | 160418 | 26899 | OMIM:617255 | Lissencephaly 8 | HP:0040283 - Occasional | | | 5 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | HP:0040283 - Occasional | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 230 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | HP:0040281 - Very frequent | | | 108 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | 101 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | | | | 7128 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:616138 | Perrault syndrome 5 | | | | 113 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 85 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | UQCRFS1 CL E G H | 7386 | 12587 | OMIM:618775 | MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10 | | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | OMIM:616687 | Charcot-Marie-Tooth disease, axonal, type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0003236 | Elevated circulating creatine kinase concentration | 2 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | . | | | 8 | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | . | | | | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | HP:0040283 - Occasional | | | 46 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040282 - Frequent | | | 304 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | 3 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL6A1 CL E G H | 1291 | 2211 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 442 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL6A2 CL E G H | 1292 | 2212 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 478 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL6A3 CL E G H | 1293 | 2213 | OMIM:254090 | Ullrich congenital muscular dystrophy 1 | . | | | 702 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | . | | | 137 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | DPM3 CL E G H | 54344 | 3007 | ORPHA:263494 | DPM3-CDG | HP:0040282 - Frequent | | | 9 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | . | | | 197 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040281 - Very frequent | | | 173 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 73 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040281 - Very frequent | | | 411 | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0011021 | HP:0030235 | Extremely elevated creatine kinase | 3 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040283 - Occasional | | | 14 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYH14 CL E G H | 79784 | 23212 | OMIM:614369 | Peripheral neuropathy, myopathy, hoarseness, and hearing loss | . | | | 227 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0011021 | HP:0030235 | Extremely elevated creatine kinase | 3 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:615376 | Charcot-Marie-Tooth disease, recessive intermediate C | . | | | 186 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0011021 | HP:0030234 | Highly elevated creatine kinase | 3 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040281 - Very frequent | | | 166 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 263 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008331 | Elevated creatine kinase after exercise | 3 | SLC25A20 CL E G H | 788 | 1421 | ORPHA:159 | Carnitine-acylcarnitine translocase deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040282 - Frequent | | | 62 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TFG CL E G H | 10342 | 11758 | OMIM:604484 | Neuropathy, hereditary motor and sensory, Okinawa type | . | | | 18 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040282 - Frequent | | | 5 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TIA1 CL E G H | 7072 | 11802 | OMIM:604454 | Welander distal myopathy | . | | | 5 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040282 - Frequent | | | 101 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0011021 | HP:0008180 | Mildly elevated creatine kinase | 3 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |