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:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | APC CL E G H | 324 | 583 | OMIM:175100 | Adenomatous polyposis coli | | | | 3179 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | APC CL E G H | 324 | 583 | ORPHA:247806 | APC-related attenuated familial adenomatous polyposis | HP:0040284 - Very rare | | | 3179 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | APC CL E G H | 324 | 583 | ORPHA:79665 | Gardner syndrome | HP:0040283 - Occasional | | | 3179 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 247 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | | | | 44 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 112 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | | | | 73 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | KCNE3 CL E G H | 10008 | 6243 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 73 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | | | | 462 | | |
HP:0008256 | HP:0008256 | Adrenocortical adenoma | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:681 | Hypokalemic periodic paralysis | HP:0040284 - Very rare | | | 263 | | |
HP:0008256 | HP:0011745 | Non-secretory adrenocortical adenoma | 1 | CL E G H | | | | | | | | | | |
HP:0008256 | HP:0011746 | Secretory adrenocortical adenoma | 1 | CLCN2 CL E G H | 1181 | 2020 | ORPHA:404 | Familial hyperaldosteronism type II | HP:0040282 - Frequent | | | 44 | | |
HP:0008256 | HP:0011746 | Secretory adrenocortical adenoma | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 112 | | |
HP:0008256 | HP:0011746 | Secretory adrenocortical adenoma | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:403 | Familial hyperaldosteronism type I | HP:0040283 - Occasional | | | 73 | | |