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:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | ACADM CL E G H | 34 | 89 | ORPHA:42 | Medium chain acyl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 197 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 62 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:606072 | Rippling muscle disease | . | | | 148 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040281 - Very frequent | | | 101 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 167 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040282 - Frequent | | | 600 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040281 - Very frequent | | | 197 | | |
HP:0003738 | HP:0003738 | Exercise-induced 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:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 19 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040283 - Occasional | | | 166 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0003738 | HP:0003738 | Exercise-induced 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:0003738 | HP:0003738 | Exercise-induced 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:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | . | | | 1200 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0003738 | HP:0003738 | Exercise-induced myalgia | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |