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:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | | | | 62 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | AMPD1 CL E G H | 270 | 468 | OMIM:615511 | MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD | | | | 62 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | | | | 65 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | CAV3 CL E G H | 859 | 1529 | OMIM:123320 | Creatine phosphokinase, elevated serum | | | | 148 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616323 | Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | | | | 88 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | | | | 80 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | DMGDH CL E G H | 29958 | 24475 | ORPHA:243343 | Dimethylglycine dehydrogenase deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | DMGDH CL E G H | 29958 | 24475 | OMIM:605850 | DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD | | | | 27 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | | | | 21 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | . | | | 4 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | | | | 74 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:185070 | Stormorken syndrome | . | | | 31 | | |
HP:0003750 | HP:0003750 | Increased muscle fatiguability | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | | | | 27 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 62 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040282 - Frequent | | | 247 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | 247 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | DBH CL E G H | 1621 | 2689 | ORPHA:230 | Dopamine beta-hydroxylase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040282 - Frequent | | | 73 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040282 - Frequent | | | 10 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040282 - Frequent | | | 263 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | SLC16A1 CL E G H | 6566 | 10922 | OMIM:245340 | Erythrocyte lactate transporter defect | . | | | 74 | | |
HP:0003750 | HP:0009020 | Exercise-induced muscle fatigue | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |