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:0003768 | HP:0003768 | Periodic paralysis | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 247 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | FAH CL E G H | 2184 | 3579 | OMIM:276700 | Tyrosinemia, type I | . | | | 107 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | . | | | 10 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040280 - Obligate | | | 193 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040280 - Obligate | | | 128 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 263 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | . | | | 263 | | |
HP:0003768 | HP:0003768 | Periodic paralysis | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 247 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 247 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 73 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 10 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0003768 | HP:0007215 | Periodic hyperkalemic paralysis | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0003768 | HP:0007215 | Periodic hyperkalemic paralysis | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040282 - Frequent | | | 128 | | |
HP:0003768 | HP:0007215 | Periodic hyperkalemic paralysis | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040281 - Very frequent | | | 263 | | |
HP:0003768 | HP:0007215 | Periodic hyperkalemic paralysis | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | . | | | 263 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 263 | | |
HP:0003768 | HP:0008153 | Periodic hypokalemic paresis | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040283 - Occasional | | | 263 | | |