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:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 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:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0500022 | HP:0500022 | Abnormal circulating dehydroepiandrosterone concentration | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 94 | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 45 | | |
HP:0500022 | HP:0031214 | Decreased circulating dehydroepiandrosterone concentration | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040281 - Very frequent | | | 85 | | |