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:0025406 | HP:0025406 | Asthenia | 0 | ALAS2 CL E G H | 212 | 397 | OMIM:300751 | Anemia, sideroblastic, X-linked | | | | 72 | | |
HP:0025406 | HP:0025406 | Asthenia | 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:0025406 | HP:0025406 | Asthenia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040282 - Frequent | | | 136 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040282 - Frequent | | | 136 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040281 - Very frequent | | | 46 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0025406 | HP:0025406 | Asthenia | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |