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:0003324 | HP:0003324 | Generalized muscle weakness | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:614096 | Combined oxidative phosphorylation deficiency 8 | . | | | 143 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:606703 | Dyskinesia, familial, with facial myokymia | | | | 25 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:238329 | Severe X-linked mitochondrial encephalomyopathy | HP:0040281 - Very frequent | | | 60 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ANG CL E G H | 283 | 483 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 32 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ANXA11 CL E G H | 311 | 535 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040283 - Occasional | | | 100 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 56 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040281 - Very frequent | | | 323 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:29073 | Multiple myeloma | HP:0040282 - Frequent | | | 1 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CCNF CL E G H | 899 | 1591 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 42 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 65 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 442 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 478 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040281 - Very frequent | | | 702 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 90 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | DAO CL E G H | 1610 | 2671 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | DCTN1 CL E G H | 1639 | 2711 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 86 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | HP:0040281 - Very frequent | | | 103 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | EPHA4 CL E G H | 2043 | 3388 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ERBB4 CL E G H | 2066 | 3432 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 15 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FGF23 CL E G H | 8074 | 3680 | OMIM:193100 | Hypophosphatemic rickets, autosomal dominant | . | | | 51 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 111 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:613152 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 | | | | 184 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 105 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | GAA CL E G H | 2548 | 4065 | ORPHA:308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | HP:0040282 - Frequent | | | 407 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | GLT8D1 CL E G H | 55830 | 24870 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HNRNPA1 CL E G H | 3178 | 5031 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 31 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040281 - Very frequent | | | 13 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 92 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040284 - Very rare | | | 286 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 80 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYH2 CL E G H | 4620 | 7572 | OMIM:605637 | Myopathy, proximal, and ophthalmoplegia | . | | | 105 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | . | | | 1269 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | . | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYL2 CL E G H | 4633 | 7583 | OMIM:619424 | MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12 | | | | 131 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040281 - Very frequent | | | 745 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | NEFH CL E G H | 4744 | 7737 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 24 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 101 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | OPTN CL E G H | 10133 | 17142 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PFN1 CL E G H | 5216 | 8881 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 6 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 66 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PON1 CL E G H | 5444 | 9204 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PON2 CL E G H | 5445 | 9205 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PON3 CL E G H | 5446 | 9206 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PPARGC1A CL E G H | 10891 | 9237 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PRPH CL E G H | 5630 | 9461 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 25 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RANBP2 CL E G H | 5903 | 9848 | ORPHA:88619 | Familial acute necrotizing encephalopathy | HP:0040282 - Frequent | | | 57 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:117000 | Central core disease | . | | | 1200 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:602771 | Rigid spine muscular dystrophy 1 | . | | | 144 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | . | | | 68 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SOD1 CL E G H | 6647 | 11179 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 53 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TAF15 CL E G H | 8148 | 11547 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TARDBP CL E G H | 23435 | 11571 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 65 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 20 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040281 - Very frequent | | | 108 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 31 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | OMIM:611705 | Salih myopathy | . | | | 7128 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | UBQLN2 CL E G H | 29978 | 12509 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 20 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | UNC13A CL E G H | 23025 | 23150 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 1 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | VAPB CL E G H | 9217 | 12649 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:803 | Amyotrophic lateral sclerosis | HP:0040281 - Very frequent | | | 63 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329475 | Spastic paraplegia-Paget disease of bone syndrome | HP:0040280 - Obligate | | | 63 | | |
HP:0003324 | HP:0003324 | Generalized muscle weakness | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 7 | | |