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:0002203 | HP:0002203 | Respiratory paralysis | 0 | ALAD CL E G H | 210 | 395 | OMIM:612740 | Porphyria, acute hepatic | . | | | 62 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:121300 | Coproporphyria | . | | | 72 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | HMBS CL E G H | 3145 | 4982 | OMIM:176000 | Porphyria, acute intermittent | . | | | 81 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 73 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 10 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0002203 | HP:0002203 | Respiratory paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 263 | | |