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:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | ARMC5 CL E G H | 79798 | 25781 | OMIM:615954 | ACTH-independent macronodular adrenal hyperplasia 2 | | | | 7 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | HTR1A CL E G H | 3350 | 5286 | OMIM:614674 | Periodic fever, menstrual cycle-dependent | HP:0040283 - Occasional | | | 2 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79644 | Autosomal recessive hyperinsulinism due to Kir6.2 deficiency | | | | 127 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | MEN1 CL E G H | 4221 | 7010 | OMIM:131100 | Multiple endocrine neoplasia 1 | . | | | 462 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040281 - Very frequent | | | 79 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 13 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PDE8B CL E G H | 8622 | 8794 | OMIM:614190 | Pigmented nodular adrenocortical disease, primary, 3 | . | | | 75 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040282 - Frequent | | | 134 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | RET CL E G H | 5979 | 9967 | OMIM:171400 | Multiple endocrine neoplasia, type IIA | . | | | 572 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0003118 | HP:0003118 | Increased circulating cortisol level | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0003118 | HP:0011744 | Secondary hypercortisolism | 1 | CL E G H | | | | | | | | | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:219080 | ACTH-independent macronodular adrenal hyperplasia | . | | | 101 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040284 - Very rare | | | 101 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | PDE11A CL E G H | 50940 | 8773 | OMIM:610475 | Pigmented nodular adrenocortical disease, primary, 2 | . | | | 13 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | PRKACA CL E G H | 5566 | 9380 | OMIM:615830 | Pigmented nodular adrenocortical disease, primary, 4 | . | | | 2 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0003118 | HP:0001579 | Primary hypercortisolism | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | . | | | 134 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0003118 | HP:0025436 | Elevated serum 11-deoxycortisol | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |