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:0002913 | HP:0002913 | Myoglobinuria | 0 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | | | | 200 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040283 - Occasional | | | 304 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228302 | Carnitine palmitoyl transferase II deficiency, myopathic form | HP:0040281 - Very frequent | | | 101 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040281 - Very frequent | | | 101 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | HP:0040282 - Frequent | | | 101 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:255110 | Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | . | | | 101 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | HADH CL E G H | 3033 | 4799 | OMIM:231530 | 3-Hydroxyacyl-Coa dehydrogenase deficiency | . | | | 41 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040284 - Very rare | | | 41 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 99 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | . | | | 60 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | . | | | 19 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | LDHA CL E G H | 3939 | 6535 | OMIM:612933 | Glycogen storage disease XI | . | | | 35 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | | | | 64 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PGAM2 CL E G H | 5224 | 8889 | OMIM:261670 | Phosphoglycerate mutase, muscle, deficiency of | . | | | 26 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PHKA2 CL E G H | 5256 | 8926 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PHKB CL E G H | 5257 | 8927 | ORPHA:79240 | Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency | | | | 101 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PHKG2 CL E G H | 5261 | 8931 | ORPHA:264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | | | | 166 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | PYGM CL E G H | 5837 | 9726 | OMIM:232600 | Glycogen storage disease V | | | | 166 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040283 - Occasional | | | 113 | | |
HP:0002913 | HP:0002913 | Myoglobinuria | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | ACADVL CL E G H | 37 | 92 | OMIM:201475 | Very long-chain acyl-CoA dehydrogenase deficiency | . | | | 200 | | |
HP:0002913 | HP:0003652 | Recurrent myoglobinuria | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0002913 | HP:0003652 | Recurrent myoglobinuria | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0003652 | Recurrent myoglobinuria | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040283 - Occasional | | | | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 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:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0002913 | HP:0003652 | Recurrent myoglobinuria | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | . | | | 54 | | |
HP:0002913 | HP:0003652 | Recurrent myoglobinuria | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 166 | | |
HP:0002913 | HP:0008305 | Exercise-induced myoglobinuria | 1 | PYGM CL E G H | 5837 | 9726 | ORPHA:368 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency | HP:0040282 - Frequent | | | 166 | | |