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:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040282 - Frequent | | | 600 | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040281 - Very frequent | | | 173 | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0008963 | HP:0008963 | Tibialis muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040283 - Occasional | | | 7128 | | |