Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003198 | HP:0003198 | Myopathy | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 254 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ABHD5 CL E G H | 51099 | 21396 | OMIM:275630 | Chanarin-Dorfman syndrome | . | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACACA CL E G H | 31 | 84 | OMIM:613933 | Acetyl-CoA carboxylase deficiency | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 197 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | . | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACADS CL E G H | 35 | 90 | ORPHA:26792 | Short chain acyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97244 | Rigid spine syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 208 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ACTN2 CL E G H | 88 | 164 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 307 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ADSS1 CL E G H | 122622 | 20093 | OMIM:617030 | Myopathy, distal, 5 | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGK CL E G H | 55750 | 21869 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGL CL E G H | 178 | 321 | ORPHA:366 | Glycogen storage disease due to glycogen debranching enzyme deficiency | HP:0040282 - Frequent | | | 216 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGL CL E G H | 178 | 321 | OMIM:232400 | Glycogen storage disease III | . | | | 216 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | HP:0040283 - Occasional | | | 50 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 12 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 46 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ANKRD1 CL E G H | 27063 | 15819 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 95 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | | | | 304 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85329 | X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 43 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BAG3 CL E G H | 9531 | 939 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 204 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BAG5 CL E G H | 9529 | 941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | HP:0040283 - Occasional | | | 247 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CAP2 CL E G H | 10486 | 20039 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:88635 | Vacuolar myopathy with sarcoplasmic reticulum protein aggregates | HP:0040281 - Very frequent | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | | | | 148 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:614321 | Myopathy, distal, Tateyama type | | | | 148 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHKB CL E G H | 1120 | 1938 | OMIM:602541 | Muscular dystrophy, congenital, Megaconial type | . | | | 53 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616314 | Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | . | | | 53 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040284 - Very rare | | | 110 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040284 - Very rare | | | 110 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040284 - Very rare | | | 137 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 90 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX1 CL E G H | 4512 | 7419 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX2 CL E G H | 4513 | 7421 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CSRP3 CL E G H | 8048 | 2472 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 104 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DES CL E G H | 1674 | 2770 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1496 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | | | | 103 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040283 - Occasional | | | 94 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 55 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 38 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:618992 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB15 | | | | 9 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DPM3 CL E G H | 54344 | 3007 | OMIM:612937 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15 | | | | 9 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DSG2 CL E G H | 1829 | 3049 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 358 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DSP CL E G H | 1832 | 3052 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 747 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:606768 | Myopathy, distal, with anterior tibial onset | . | | | 600 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | EMD CL E G H | 2010 | 3331 | OMIM:310300 | Emery-Dreifuss muscular dystrophy 1, X-linked | . | | | 107 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 107 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ERGIC1 CL E G H | 57222 | 29205 | OMIM:208100 | Arthrogryposis multiplex congenita, Neurogenic type | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FHL2 CL E G H | 2274 | 3703 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 157 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:272 | Congenital muscular dystrophy, Fukuyama type | HP:0040281 - Very frequent | | | 184 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 184 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 184 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FLAD1 CL E G H | 80308 | 24671 | OMIM:255100 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | . | | | 18 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | | | | 197 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:614065 | Myopathy, distal, 4 | . | | | 197 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GATAD1 CL E G H | 57798 | 29941 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GCLC CL E G H | 2729 | 4311 | OMIM:230450 | Gamma-Glutamylcysteine synthetase deficiency, hemolytic anemia dueto | . | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GFER CL E G H | 2671 | 4236 | OMIM:613076 | Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | | | | 14 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 34 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 34 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | | | | 18 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HAND2 CL E G H | 9464 | 4808 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | . | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | OMIM:615422 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | . | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HNRNPDL CL E G H | 9987 | 5037 | OMIM:609115 | Limb-girdle muscular dystrophy, type 1G | . | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | INPP5K CL E G H | 51763 | 33882 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 80 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LAMA4 CL E G H | 3910 | 6484 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 279 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 92 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | | | | 211 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 136 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | | | | 136 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 286 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | | | | 286 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040282 - Frequent | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:610140 | Heart-hand syndrome, Slovenian type | HP:0040283 - Occasional | | | 645 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMNB2 CL E G H | 84823 | 6638 | ORPHA:79087 | Acquired partial lipodystrophy | HP:0040282 - Frequent | | | 11 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | HP:0040283 - Occasional | | | 85 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYBPC3 CL E G H | 4607 | 7551 | OMIM:115197 | Cardiomyopathy, familial hypertrophic, 4 | . | | | 1143 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYBPC3 CL E G H | 4607 | 7551 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1143 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | . | | | 105 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 452 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | . | | | 1269 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:182920 | Myopathy, spheroid body | . | | | 75 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | | | | 75 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 217 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NDUFA11 CL E G H | 126328 | 20371 | OMIM:618236 | Mitochondrial complex I deficiency, nuclear type 14 | . | | | 32 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | . | | | 50 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NDUFB3 CL E G H | 4709 | 7698 | OMIM:618246 | Mitochondrial complex I deficiency, nuclear type 25 | . | | | 9 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 745 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | | | | 745 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 745 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NEXN CL E G H | 91624 | 29557 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | . | | | 89 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040283 - Occasional | | | 214 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:125250 | Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | . | | | 214 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | | | | 19 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PABPN1 CL E G H | 8106 | 8565 | ORPHA:270 | Oculopharyngeal muscular dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040281 - Very frequent | | | 759 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PLN CL E G H | 5350 | 9080 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 57 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | | | | 65 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | | | | 464 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 180 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 213 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040281 - Very frequent | | | 221 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PPCS CL E G H | 79717 | 25686 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 148 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PRKAG2 CL E G H | 51422 | 9386 | OMIM:261740 | Glycogen storage disease of heart, lethal congenital | . | | | 235 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 241 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:109 | Bannayan-Riley-Ruvalcaba syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | PUS1 CL E G H | 80324 | 15508 | ORPHA:2598 | Mitochondrial myopathy and sideroblastic anemia | HP:0040281 - Very frequent | | | 57 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 212 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RBM20 CL E G H | 282996 | 27424 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 363 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RNR1 CL E G H | 4549 | 7470 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040284 - Very rare | | | 8 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | HP:0040283 - Occasional | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | . | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 1134 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 304 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:100093 | Carcinoid syndrome | HP:0040284 - Very rare | | | 129 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | | | | 144 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:97244 | Rigid spine syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | | | | 132 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SGCD CL E G H | 6444 | 10807 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 223 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SIL1 CL E G H | 64374 | 24624 | ORPHA:559 | Marinesco-Sjögren syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC22A5 CL E G H | 6584 | 10969 | OMIM:212140 | Carnitine deficiency, systemic primary | . | | | 207 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A3 CL E G H | 5250 | 10989 | ORPHA:91130 | Cardiomyopathy-hypotonia-lactic acidosis syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:612783 | Immunodeficiency 10 | . | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | | | | 31 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 1129 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 508 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TAF1A CL E G H | 9015 | 11532 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TAFAZZIN CL E G H | 6901 | 11577 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | | | | 12 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040283 - Occasional | | | 52 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TCAP CL E G H | 8557 | 11610 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 78 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 103 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | | | | 103 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040280 - Obligate | | | 103 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TKFC CL E G H | 26007 | 24552 | ORPHA:1369 | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 171 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TMPO CL E G H | 7112 | 11875 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 136 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNNC1 CL E G H | 7134 | 11943 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNNI3 CL E G H | 7137 | 11947 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | | | | 37 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNNT1 CL E G H | 7138 | 11948 | OMIM:605355 | NEMALINE MYOPATHY 5; NEM5 | | | | 37 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNNT2 CL E G H | 7139 | 11949 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | | | | 71 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | . | | | 28 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM1 CL E G H | 7168 | 12010 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 230 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 54 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 108 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | | | | 108 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | HP:0040281 - Very frequent | | | 108 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | | | | 4 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRMU CL E G H | 55687 | 25481 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | 101 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNC CL E G H | 4511 | 7477 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:254864 | Mitochondrial myopathy with reversible cytochrome C oxidase deficiency | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNF CL E G H | 4558 | 7481 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNI CL E G H | 4565 | 7488 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNK CL E G H | 4566 | 7489 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNP CL E G H | 4571 | 7494 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNP CL E G H | 4571 | 7494 | OMIM:545000 | Myoclonic epilepsy associated with ragged-red fibers | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNQ CL E G H | 4572 | 7495 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:551 | MERRF | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNS2 CL E G H | 4575 | 7498 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNT CL E G H | 4576 | 7499 | OMIM:551000 | Myopathy, mitochondrial, lethal infantile | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNV CL E G H | 4577 | 7500 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TRNW CL E G H | 4578 | 7501 | OMIM:540000 | Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes | . | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | | | | 7128 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 85 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:618323 | Myasthenic syndrome, congenital, 25, presynaptic | . | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VCL CL E G H | 7414 | 12665 | ORPHA:154 | Familial isolated dilated cardiomyopathy | HP:0040283 - Occasional | | | 248 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | | | | 63 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | XDH CL E G H | 7498 | 12805 | OMIM:278300 | Xanthinuria, type I | . | | | 79 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | XK CL E G H | 7504 | 12811 | OMIM:300842 | Mcleod syndrome | . | | | 8 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | YARS2 CL E G H | 51067 | 24249 | ORPHA:2598 | Mitochondrial myopathy and sideroblastic anemia | HP:0040281 - Very frequent | | | 45 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ZBTB20 CL E G H | 26137 | 13503 | ORPHA:3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0003198 | HP:0003198 | Myopathy | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | . | | | 99 | | |
HP:0003198 | HP:0008978 | Necrotizing myopathy | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003198 | HP:0009071 | Inflammatory myopathy | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040282 - Frequent | | | 148 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 65 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 442 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 442 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 478 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 478 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040281 - Very frequent | | | 702 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 702 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040282 - Frequent | | | 46 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | . | | | 263 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | HP:0040283 - Occasional | | | 103 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GIPC1 CL E G H | 10755 | 1226 | OMIM:618940 | OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2 | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040282 - Frequent | | | 173 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | . | | | 173 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | HNRNPA2B1 CL E G H | 3181 | 5033 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 5 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 80 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 13 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LAMP2 CL E G H | 3920 | 6501 | OMIM:300257 | Danon disease | . | | | 211 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:608840 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 | . | | | 136 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | LDB3 CL E G H | 11155 | 15710 | OMIM:609452 | Myopathy, myofibrillar, 4 | . | | | 286 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040282 - Frequent | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255160 | Myopathy, myosin storage, autosomal recessive | . | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:181430 | Scapuloperoneal myopathy, myh7-related | . | | | 1269 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040282 - Frequent | | | 75 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 217 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 745 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:565612 | Triglyceride deposit cardiomyovasculopathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003198 | HP:0008978 | Necrotizing myopathy | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040283 - Occasional | | | 8 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040283 - Occasional | | | 263 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SGCA CL E G H | 6442 | 10805 | OMIM:608099 | Muscular dystrophy, limb-girdle, type 2D | . | | | 132 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040281 - Very frequent | | | 12 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TNNT1 CL E G H | 7138 | 11948 | ORPHA:98902 | Amish nemaline myopathy | HP:0040282 - Frequent | | | 37 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 54 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003198 | HP:0003789 | Minicore myopathy | 1 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0003198 | HP:0003756 | Skeletal myopathy | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040281 - Very frequent | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0003198 | HP:0008978 | Necrotizing myopathy | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | . | | | 7128 | | |
HP:0003198 | HP:0003715 | Myofibrillar myopathy | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TTN CL E G H | 7273 | 12403 | OMIM:600334 | Tibial muscular dystrophy, tardive | . | | | 7128 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003198 | HP:0009071 | Inflammatory myopathy | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040282 - Frequent | | | 35 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003198 | HP:0008978 | Necrotizing myopathy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:52430 | Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003198 | HP:0003458 | EMG: myopathic abnormalities | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0003198 | HP:0003787 | Type 1 and type 2 muscle fiber minicore regions | 2 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003198 | HP:0003787 | Type 1 and type 2 muscle fiber minicore regions | 2 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |