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:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | | | | 20 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 95 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | | | | 289 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | | | | 62 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | | | | 539 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | | | | 572 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 247 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | | | | 247 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | | | | 18 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | | | | 13 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | | | | 16 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | | | | 44 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | | | | 72 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | | | | 92 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | | | | 17 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | | | | 86 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | | | | 43 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | | | | 901 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | | | | 128 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | | | | 730 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | | | | 118 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | | | | 79 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | | | | 1 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 36 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | | | | 146 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | | | | 263 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | | | | 110 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | | | | 1134 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | | | | 67 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | | | | 61 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | | | | 57 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | | | | 255 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | | | | 109 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | | | | 74 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | | | | 118 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | | | | 123 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | | | | 145 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 7 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | | | | 199 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | | | | 71 | | |
HP:0010930 | HP:0010930 | Abnormal blood monovalent inorganic cation concentration | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | | | | 20 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 95 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | | | | 289 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | | | | 62 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | | | | 50 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | | | | 68 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | | | | 539 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 75 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | | | | 67 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | | | | 67 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | | | | 385 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | | | | 572 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 247 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 247 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | | | | 247 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | | | | 18 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | | | | 13 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | | | | 16 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | | | | 44 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | | | | 27 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | | | | 749 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | | | | 72 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | | | | 92 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | | | | 16 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 2 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | | | | 133 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | | | | 17 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | | | | 86 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 86 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | | | | 106 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | | | | 148 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | | | | 43 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | | | | 901 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | | | | 193 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | | | | 128 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | | | | 730 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | | | | 118 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | | | | 95 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 39 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | | | | 13 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | | | | 4 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | | | | 48 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | | | | 79 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | | | | 1 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | | | | 563 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | | | | | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | | | | 1200 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | | | | 1200 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | | | | 1200 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | | | | 8 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | | | | 60 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | | | | 146 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:684 | Paramyotonia congenita of Von Eulenburg | HP:0040283 - Occasional | | | 263 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | | | | 110 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | | | | 1134 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | | | | 67 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | | | | 67 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | | | | 61 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | | | | 57 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | | | | 145 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | | | | 255 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | | | | 71 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | | | | 47 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | | | | 109 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | | | | 74 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | | | | 504 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | | | | 118 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 20 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | | | | 123 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 6 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 3 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 2 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | | | | 145 | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0010930 | HP:0010931 | Abnormal blood sodium concentration | 1 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | | | | 5 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | | | | 7 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | | | | 199 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | | | | 71 | | |
HP:0010930 | HP:0011042 | Abnormal blood potassium concentration | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | ABCB6 CL E G H | 10058 | 47 | OMIM:609153 | Pseudohyperkalemia, familial, 2, due to red cell leak | | | | 20 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | AIP CL E G H | 9049 | 358 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 95 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | AKAP9 CL E G H | 10142 | 379 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | ALDOA CL E G H | 226 | 414 | ORPHA:57 | Glycogen storage disease due to aldolase A deficiency | HP:0040283 - Occasional | | | 50 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | ANK2 CL E G H | 287 | 493 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 539 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | AQP2 CL E G H | 359 | 634 | OMIM:125800 | Diabetes insipidus, nephrogenic, 2 | | | | 75 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040281 - Very frequent | | | 75 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | ATP1A1 CL E G H | 476 | 799 | OMIM:618314 | Hypomagnesemia, seizures, and mental retardation 2 | . | | | 4 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | | | | 4 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | ATP6V0A4 CL E G H | 50617 | 866 | OMIM:602722 | RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR | | | | 64 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:304800 | Diabetes insipidus, nephrogenic, X-linked | . | | | 67 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040281 - Very frequent | | | 67 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | BMPR1A CL E G H | 657 | 1076 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 385 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 53 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1C CL E G H | 775 | 1390 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 572 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1S CL E G H | 779 | 1397 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 247 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 247 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CACNA1S CL E G H | 779 | 1397 | OMIM:188580 | Thyrotoxic periodic paralysis, susceptibility to, 1 | . | | | 247 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CALM1 CL E G H | 801 | 1442 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 18 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CALM2 CL E G H | 805 | 1445 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CALM3 CL E G H | 808 | 1449 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 16 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | HP:0040283 - Occasional | | | 272 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CAV3 CL E G H | 859 | 1529 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 148 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040283 - Occasional | | | 636 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040283 - Occasional | | | 44 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCN2 CL E G H | 1181 | 2020 | OMIM:605635 | Hyperaldosteronism, familial, type II | HP:0040284 - Very rare | | | 44 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 9 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 27 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CLDN10 CL E G H | 9071 | 2033 | OMIM:617671 | Helix syndrome | . | | | 3 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 749 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CUL3 CL E G H | 8452 | 2553 | OMIM:614496 | Pseudohypoaldosteronism, type IIE | . | | | 92 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | . | | | 112 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 112 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040281 - Very frequent | | | 73 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040281 - Very frequent | | | 73 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 73 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | DSG1 CL E G H | 1828 | 3048 | OMIM:615508 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige | . | | | 16 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | EHHADH CL E G H | 1962 | 3247 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040284 - Very rare | | | 65 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | FXYD2 CL E G H | 486 | 4026 | OMIM:154020 | Hypomagnesemia 2, renal | . | | | 17 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | GATM CL E G H | 2628 | 4175 | OMIM:134600 | Fanconi renotubular syndrome 1 | . | | | 86 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | GATM CL E G H | 2628 | 4175 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040281 - Very frequent | | | 14 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | INVS CL E G H | 27130 | 17870 | OMIM:602088 | Nephronophthisis 2 | . | | | 106 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNE1 CL E G H | 3753 | 6240 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 148 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNE2 CL E G H | 9992 | 6242 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 43 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 73 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNH2 CL E G H | 3757 | 6251 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 901 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040284 - Very rare | | | 10 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | . | | | 10 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040281 - Very frequent | | | 128 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 128 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | KCNQ1 CL E G H | 3784 | 6294 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 730 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | KLHL3 CL E G H | 26249 | 6354 | OMIM:614495 | Pseudohypoaldosteronism, type IID | . | | | 118 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | LPIN1 CL E G H | 23175 | 13345 | OMIM:268200 | Rhabdomyolysis, acute recurrent | . | | | 95 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | NOS1AP CL E G H | 9722 | 16859 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 4 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040282 - Frequent | | | 88 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | PKD2 CL E G H | 5311 | 9009 | OMIM:613095 | Polycystic kidney disease 2 | | | | 106 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:466650 | Exercise-induced malignant hyperthermia | HP:0040283 - Occasional | | | 1200 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:423 | Malignant hyperthermia of anesthesia | HP:0040283 - Occasional | | | 1200 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | RYR1 CL E G H | 6261 | 10483 | OMIM:145600 | Malignant hyperthermia, susceptibility to, 1 | . | | | 1200 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN10A CL E G H | 6336 | 10582 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 146 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040282 - Frequent | | | 263 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCN4A CL E G H | 6329 | 10591 | OMIM:170500 | Hyperkalemic periodic paralysis | . | | | 263 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | | | | 263 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN4A CL E G H | 6329 | 10591 | OMIM:170400 | Hypokalemic periodic paralysis, type 1 | . | | | 263 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN4A CL E G H | 6329 | 10591 | OMIM:613345 | Hypokalemic periodic paralysis, type 2 | . | | | 263 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN4B CL E G H | 6330 | 10592 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 110 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCN5A CL E G H | 6331 | 10593 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 1134 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 67 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1A CL E G H | 6337 | 10599 | OMIM:618126 | Liddle syndrome 3 | . | | | 67 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:526 | Liddle syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | . | | | 57 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040281 - Very frequent | | | 145 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:608885 | Stomatin-Deficient cryohydrocytosis with neurologic defects | . | | | 255 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC2A2 CL E G H | 6514 | 11006 | OMIM:227810 | Fanconi-Bickel syndrome | . | | | 71 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:3337 | Primary Fanconi renotubular syndrome | HP:0040282 - Frequent | | | 47 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:179800 | Renal tubular acidosis, distal, autosomal dominant | | | | 109 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | . | | | 109 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | SLC5A1 CL E G H | 6523 | 11036 | ORPHA:35710 | Glucose-galactose malabsorption | HP:0040282 - Frequent | | | 74 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SMAD4 CL E G H | 4089 | 6770 | OMIM:174900 | Juvenile polyposis syndrome | . | | | 504 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | SNTA1 CL E G H | 6640 | 11167 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 118 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0010930 | HP:0003228 | Hypernatremia | 2 | SYK CL E G H | 6850 | 11491 | OMIM:619381 | IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82 | | | | 1 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | TBX5 CL E G H | 6910 | 11604 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 123 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | TRDN CL E G H | 10345 | 12261 | ORPHA:101016 | Romano-Ward syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | UNC45A CL E G H | 55898 | 30594 | OMIM:619377 | OSTEOOTOHEPATOENTERIC SYNDROME; OOHE | | | | | | |
HP:0010930 | HP:0002902 | Hyponatremia | 2 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | USP8 CL E G H | 9101 | 12631 | OMIM:219090 | Pituitary adenoma 4, ACTH-secreting, somatic | . | | | 7 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | WNK1 CL E G H | 65125 | 14540 | OMIM:614492 | Pseudohypoaldosteronism, type IIC | . | | | 199 | | |
HP:0010930 | HP:0002153 | Hyperkalemia | 2 | WNK4 CL E G H | 65266 | 14544 | OMIM:614491 | Pseudohypoaldosteronism, type IIB | . | | | 71 | | |
HP:0010930 | HP:0002900 | Hypokalemia | 2 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | ATP1A1 CL E G H | 476 | 799 | ORPHA:564178 | Primary hypomagnesemia with refractory seizures and intellectual disability | HP:0040282 - Frequent | | | 4 | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 247 | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 247 | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 73 | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040280 - Obligate | | | 10 | | |
HP:0010930 | HP:0012726 | Episodic hypokalemia | 3 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040280 - Obligate | | | 263 | | |