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:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040283 - Occasional | | | 247 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | 247 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | DES CL E G H | 1674 | 2770 | OMIM:601419 | Myopathy, myofibrillar, 1 | . | | | 263 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040283 - Occasional | | | 73 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040283 - Occasional | | | 10 | | |
HP:0003694 | HP:0003694 | Late-onset proximal muscle weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |