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:0003326 | HP:0003326 | Myalgia | 0 | ACAD9 CL E G H | 28976 | 21497 | ORPHA:99901 | Acyl-CoA dehydrogenase 9 deficiency | HP:0040282 - Frequent | | | 98 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | | | | 197 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040283 - Occasional | | | 74 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040284 - Very rare | | | 404 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 62 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 150 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:611307 | Muscular dystrophy, limb-girdle, type 2L | . | | | 304 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 3179 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | . | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:618129 | Muscular dystrophy, limb-girdle, autosomal dominant 4 | . | | | 323 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | . | | | 5 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CASQ1 CL E G H | 844 | 1512 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 5 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:488650 | Distal myopathy, Tateyama type | HP:0040284 - Very rare | | | 148 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | | | | 148 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CAVIN1 CL E G H | 284119 | 9688 | OMIM:613327 | Lipodystrophy, congenital generalized, type 4 | . | | | 48 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | . | | | 25 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:160800 | Myotonia congenita, autosomal dominant | HP:0040283 - Occasional | | | 133 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CLCN1 CL E G H | 1180 | 2019 | OMIM:255700 | Myotonia congenita, autosomal recessive | | | | 133 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CNBP CL E G H | 7555 | 13164 | OMIM:602668 | Dystrophia myotonica 2 | . | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | COX6B1 CL E G H | 1340 | 2280 | OMIM:619051 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7 | | | | 10 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:614699 | IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7 | | | | 10 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 88 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 36 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040283 - Occasional | | | 57 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DMD CL E G H | 1756 | 2928 | OMIM:300376 | Muscular dystrophy, Becker type | . | | | 1496 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040283 - Occasional | | | 600 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ENO3 CL E G H | 2027 | 3354 | OMIM:612932 | Glycogen storage disease XIII | . | | | 34 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 51 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 96 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 102 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040281 - Very frequent | | | 291 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 4 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619027 | SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83 | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 60 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | 31 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040282 - Frequent | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LBR CL E G H | 3930 | 6518 | ORPHA:779 | Reynolds syndrome | HP:0040281 - Very frequent | | | 70 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | | | | 645 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040283 - Occasional | | | 645 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040283 - Occasional | | | 645 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:151660 | Lipodystrophy, familial partial, type 2 | . | | | 645 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040282 - Frequent | | | 186 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 281 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:342 | Familial Mediterranean fever | HP:0040281 - Very frequent | | | 281 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:249100 | Familial Mediterranean fever, AR | | | | 281 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MEFV CL E G H | 4210 | 6998 | OMIM:608068 | NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE | | | | 281 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040282 - Frequent | | | 281 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MOCOS CL E G H | 55034 | 18234 | OMIM:603592 | Xanthinuria, type II | | | | 4 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MVK CL E G H | 4598 | 7530 | OMIM:260920 | Hyper-Igd syndrome | | | | 150 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040281 - Very frequent | | | 150 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | . | | | 1269 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | MYOT CL E G H | 9499 | 12399 | OMIM:609200 | MYOTILINOPATHY | . | | | 75 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040281 - Very frequent | | | 217 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:191900 | Muckle-Wells syndrome | . | | | 217 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040283 - Occasional | | | 217 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:617321 | YAO SYNDROME; YAOS | | | | 187 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ORAI1 CL E G H | 84876 | 25896 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 19 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:617099 | AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS | | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PDGFRA CL E G H | 5156 | 8803 | OMIM:607685 | Hypereosinophilic syndrome, idiopathic | . | | | 337 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | | | | 26 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040283 - Occasional | | | 42 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PRDM5 CL E G H | 11107 | 9349 | OMIM:614170 | Brittle cornea syndrome 2 | HP:0040283 - Occasional | | | 58 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040283 - Occasional | | | 9 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RBCK1 CL E G H | 10616 | 15864 | OMIM:615895 | Polyglucosan body myopathy 1 with or without immunodeficiency | . | | | 10 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99736 | Acetazolamide-responsive myotonia | HP:0040281 - Very frequent | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040282 - Frequent | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99734 | Myotonia fluctuans | HP:0040283 - Occasional | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:99735 | Myotonia permanens | HP:0040283 - Occasional | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:608390 | Myotonia, potassium-aggravated | . | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:168300 | Paramyotonia congenita of von eulenburg | . | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040282 - Frequent | | | 263 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SCN9A CL E G H | 6335 | 10597 | OMIM:133020 | Erythermalgia, primary | . | | | 318 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | . | | | 68 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 109 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | STIM1 CL E G H | 6786 | 11386 | ORPHA:2593 | Tubular aggregate myopathy | HP:0040281 - Very frequent | | | 31 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | SVIL CL E G H | 6840 | 11480 | OMIM:619040 | MYOFIBRILLAR MYOPATHY 10; MFM10 | | | | 1 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040283 - Occasional | | | 103 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040281 - Very frequent | | | 131 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TNXB CL E G H | 7148 | 11976 | ORPHA:230839 | Classical-like Ehlers-Danlos syndrome type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040283 - Occasional | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040281 - Very frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003326 | HP:0003326 | Myalgia | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040282 - Frequent | | | 397 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 62 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | . | | | 148 | | |
HP:0003326 | HP:0031921 | Gastrocnemius myalgia | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040282 - Frequent | | | 600 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040281 - Very frequent | | | 197 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003326 | HP:0003738 | Exercise-induced myalgia | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |