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:0003473 | HP:0003473 | Fatigable weakness | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 12 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 46 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:616228 | Myasthenic syndrome, congenital, 14 | . | | | 46 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 32 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 56 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CASR CL E G H | 846 | 1514 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 272 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHAT CL E G H | 1103 | 1912 | OMIM:254210 | Myasthenic syndrome, congenital, 6, presynaptic | . | | | 65 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 11 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 42 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 86 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 38 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | DPAGT1 CL E G H | 1798 | 2995 | OMIM:614750 | Myasthenic syndrome, congenital, 13, with tubular aggregates | | | | 38 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 15 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 111 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 105 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 128 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 45 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040282 - Frequent | | | 34 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:428 | Autosomal dominant hypocalcemia | HP:0040281 - Very frequent | | | 16 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | | | | 4 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 80 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 24 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 101 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 6 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:257 | Epidermolysis bullosa simplex with muscular dystrophy | HP:0040283 - Occasional | | | 759 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 4 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 25 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040281 - Very frequent | | | 1200 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040283 - Occasional | | | 7 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:617143 | Myasthenic syndrome, congenital, 20, presynaptic | | | | 9 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 53 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 62 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 65 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 31 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 20 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 1 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 116 | | |
HP:0003473 | HP:0003473 | Fatigable weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | | | | 63 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | | | | 5 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040282 - Frequent | | | 263 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040283 - Occasional | | | 263 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 73 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | | | | 19 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040282 - Frequent | | | 221 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 263 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | | | | 31 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0003473 | HP:0030197 | Fatigable weakness of skeletal muscles | 1 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0003473 | HP:0030192 | Fatigable weakness of bulbar muscles | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |
HP:0003473 | HP:0030196 | Fatigable weakness of respiratory muscles | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |
HP:0003473 | HP:0030193 | Fatigable weakness of chewing muscles | 2 | CL E G H | | | | | | | | | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 32 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 56 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 35 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 42 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 86 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040283 - Occasional | | | | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 15 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 111 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 45 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | KCNK9 CL E G H | 51305 | 6283 | ORPHA:166108 | Intellectual disability, Birk-Barel type | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040282 - Frequent | | | 286 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 80 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 24 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 101 | | |
HP:0003473 | HP:0030194 | Fatigable weakness of speech muscles | 2 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 4 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 2 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 25 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0003473 | HP:0030199 | Fatigable weakness of neck muscles | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 53 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 62 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 65 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040281 - Very frequent | | | 18 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003473 | HP:0030198 | Fatigable weakness of distal limb muscles | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 31 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 20 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 1 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0003473 | HP:0030200 | Fatiguable weakness of proximal limb muscles | 2 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 116 | | |
HP:0003473 | HP:0030195 | Fatigable weakness of swallowing muscles | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 63 | | |