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:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | | | | 51 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | | | | 112 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | | | | 128 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | | | | 109 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | | | | 67 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0000847 | HP:0000847 | Abnormality of renin-angiotensin system | 0 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | | | | 89 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | | | | 67 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 53 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 53 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | | | | 51 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CACNA1D CL E G H | 776 | 1391 | ORPHA:369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome | HP:0040280 - Obligate | | | 51 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040281 - Very frequent | | | 44 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 9 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 9 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | | | | 27 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 27 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | | | | 27 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040281 - Very frequent | | | 112 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | | | | 112 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040281 - Very frequent | | | 73 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | | | | 229 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | | | | 51 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:251274 | Familial hyperaldosteronism type III | HP:0040280 - Obligate | | | 128 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | | | | 128 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | | | | 6 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | | | | 109 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | | | | 109 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 67 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | SCNN1A CL E G H | 6337 | 10599 | OMIM:264350 | Pseudohypoaldosteronism, type I, autosomal recessive | . | | | 67 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 61 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0000847 | HP:0040085 | Abnormal circulating aldosterone | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | | | | 57 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | | | | 75 | | |
HP:0000847 | HP:0040084 | Abnormal circulating renin | 1 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | | | | 145 | | |
HP:0000847 | HP:0000841 | Hyperactive renin-angiotensin system | 1 | SLC26A3 CL E G H | 1811 | 3018 | OMIM:214700 | Diarrhea 1, secretory chloride, congenital | . | | | 89 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | BSND CL E G H | 7809 | 16512 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 53 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | HP:0040283 - Occasional | | | 272 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CLCNKA CL E G H | 1187 | 2026 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 9 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CLCNKB CL E G H | 1188 | 2027 | OMIM:607364 | Bartter syndrome, type 3 | . | | | 27 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:89938 | Infantile Bartter syndrome with sensorineural deafness | HP:0040281 - Very frequent | | | 27 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 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:0000847 | HP:0000848 | Increased circulating renin level | 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:0000847 | HP:0003351 | Decreased circulating renin level | 2 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 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:0000847 | HP:0003351 | Decreased circulating renin level | 2 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | . | | | 112 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | . | | | 73 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040281 - Very frequent | | | 14 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 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:0000847 | HP:0000848 | Increased circulating renin level | 2 | INSR CL E G H | 3643 | 6091 | ORPHA:508 | Leprechaunism | HP:0040283 - Occasional | | | 229 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040281 - Very frequent | | | 121 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | KCNJ16 CL E G H | 3773 | 6262 | OMIM:619406 | HYPOKALEMIC TUBULOPATHY AND DEAFNESS; HKTD | | | | | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | MAGED2 CL E G H | 10916 | 16353 | OMIM:300971 | Bartter syndrome, type 5, antenatal, transient | . | | | 6 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | . | | | 109 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | NR3C2 CL E G H | 4306 | 7979 | OMIM:177735 | Pseudohypoaldosteronism, type I, autosomal dominant | . | | | 109 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 67 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 61 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040281 - Very frequent | | | 57 | | |
HP:0000847 | HP:0003351 | Decreased circulating renin level | 2 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | . | | | 57 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | SLC12A1 CL E G H | 6557 | 10910 | OMIM:601678 | Bartter syndrome, type 1, antenatal | . | | | 75 | | |
HP:0000847 | HP:0000848 | Increased circulating renin level | 2 | SLC12A3 CL E G H | 6559 | 10912 | OMIM:263800 | Gitelman syndrome | . | | | 145 | | |