Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | | | | 60 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | | | | 78 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 239 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | | | | 14 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | | | | 14 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | | | | 14 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | | | | 14 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 449 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | | | | 38 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | HP:0040282 - Frequent | | | 1 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | | | | 62 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 94 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | | | | 1053 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | | | | 47 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | | | | 51 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | | | | 22 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | | | | 22 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | | | | 22 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:605021 | Myoclonic epilepsy, familial infantile | | | | 271 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | | | | 1 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | | | | 35 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | | | | 63 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0010546 | HP:0010546 | Muscle fibrillation | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | HP:0040284 - Very rare | | | 1 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300816 | Combined oxidative phosphorylation deficiency 6 | | | | 60 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040282 - Frequent | | | 60 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 239 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | | | | 9 | | |
HP:0010546 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0010546 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0010546 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0010546 | HP:0007089 | Facial-lingual fasciculations | 1 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 449 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618822 | MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF | | | | | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | HP:0040281 - Very frequent | | | 47 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040283 - Occasional | | | 4 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | OPTN CL E G H | 10133 | 17142 | OMIM:613435 | Amyotrophic lateral sclerosis 12 | . | | | 62 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 94 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | HP:0040283 - Occasional | | | 26 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040282 - Frequent | | | 1053 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SLC52A3 CL E G H | 113278 | 16187 | OMIM:211530 | Brown-Vialetto-Van laere syndrome 1 | . | | | 51 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253550 | Spinal muscular atrophy, type II | . | | | 22 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 22 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:271150 | Spinal muscular atrophy, type IV | . | | | 22 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | . | | | 1 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | TSPYL1 CL E G H | 7259 | 12382 | OMIM:608800 | Sudden infant death with dysgenesis of the testes syndrome | . | | | 1 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0010546 | HP:0007289 | Limb fasciculations | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0010546 | HP:0001308 | Tongue fasciculations | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0010546 | HP:0032507 | Labiomental fasciculations | 2 | CL E G H | | | | | | | | | | |