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:0000848 | HP:0000848 | Increased circulating renin level | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 53 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | HP:0040283 - Occasional | | | 272 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 9 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 27 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 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:0000848 | HP:0000848 | Increased circulating renin level | 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:0000848 | HP:0000848 | Increased circulating renin level | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | . | | | 73 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 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:0000848 | HP:0000848 | Increased circulating renin level | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0000848 | HP:0000848 | Increased circulating renin level | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |