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:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 127 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 65 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | . | | | 74 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 6 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 28 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 9 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 4 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0004889 | HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040281 - Very frequent | | | 2 | | |