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:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 247 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 73 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040281 - Very frequent | | | 128 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040281 - Very frequent | | | 263 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | . | | | 263 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040281 - Very frequent | | | 263 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 263 | | |
HP:0003752 | HP:0003752 | Episodic flaccid weakness | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | . | | | 263 | | |