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