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:0003351 | HP:0003351 | Decreased circulating renin level | 0 | AVPR2 CL E G H | 554 | 897 | OMIM:300539 | Nephrogenic syndrome of inappropriate antidiuresis | . | | | 67 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | CACNA1D CL E G H | 776 | 1391 | OMIM:615474 | Primary aldosteronism, seizures, and neurologic abnormalities | . | | | 51 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:103900 | Glucocorticoid-Remediable aldosteronism | . | | | 112 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040281 - Very frequent | | | 14 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | KCNJ5 CL E G H | 3762 | 6266 | OMIM:613677 | Hyperaldosteronism, familial, type III | . | | | 128 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | . | | | 109 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0003351 | HP:0003351 | Decreased circulating renin level | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | . | | | 57 | | |