Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040284 - Very rare | | | 68 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040282 - Frequent | | | 46 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | BSND CL E G H | 7809 | 16512 | OMIM:602522 | Bartter syndrome, type 4A, neonatal, with sensorineural deafness | . | | | 53 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 53 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CA12 CL E G H | 771 | 1371 | OMIM:143860 | Hyperchlorhidrosis, isolated | . | | | 4 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CLCNKA CL E G H | 1187 | 2026 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 9 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 9 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:613090 | Bartter syndrome, type 4B, neonatal, with sensorineural deafness | . | | | 27 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040282 - Frequent | | | 27 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040283 - Occasional | | | 72 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040283 - Occasional | | | 178 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | 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:0002902 | HP:0002902 | Hyponatremia | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040281 - Very frequent | | | 73 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | DZIP1L CL E G H | 199221 | 26551 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 4 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040284 - Very rare | | | 65 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | ELP1 CL E G H | 8518 | 5959 | ORPHA:1764 | Familial dysautonomia | HP:0040283 - Occasional | | | 133 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 26 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NNT CL E G H | 23530 | 7863 | OMIM:614736 | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 39 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PBX1 CL E G H | 5087 | 8632 | ORPHA:97362 | Renal hypoplasia, bilateral | | | | 3 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PKHD1 CL E G H | 5314 | 9016 | ORPHA:731 | Autosomal recessive polycystic kidney disease | HP:0040282 - Frequent | | | 563 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PLVAP CL E G H | 83483 | 13635 | OMIM:618183 | Diarrhea 10, protein-losing Enteropathy type | . | | | | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040283 - Occasional | | | 41 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:682 | Hyperkalemic periodic paralysis | HP:0040283 - Occasional | | | 263 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 45 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 20 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040281 - Very frequent | | | 57 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 6 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 3 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 2 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040282 - Frequent | | | 85 | | |
HP:0002902 | HP:0002902 | Hyponatremia | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040282 - Frequent | | | 5 | | |