Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | ALG6 CL E G H | 29929 | 23157 | ORPHA:79320 | ALG6-CDG | HP:0040284 - Very rare | | | 66 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | | | | 125 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 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:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | | | | 50 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | | | | 101 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | | | | 4 | | |
HP:0030348 | HP:0030348 | Increased circulating androgen concentration | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 112 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:64739 | Ovarian hyperstimulation syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:562 | McCune-Albright syndrome | HP:0040282 - Frequent | | | 101 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | NR2F2 CL E G H | 7026 | 7976 | OMIM:618901 | 46,XX SEX REVERSAL 5; SRXX5 | | | | 13 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0030348 | HP:0030088 | Increased serum testosterone level | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040281 - Very frequent | | | 4 | | |
HP:0030348 | HP:0025380 | Increased circulating androstenedione concentration | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |