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:0010788 | HP:0010788 | Testicular neoplasm | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040284 - Very rare | | | 169 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040284 - Very rare | | | 169 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | | | | 670 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040284 - Very rare | | | 283 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040284 - Very rare | | | 283 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | | | | | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 13 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PDE8B CL E G H | 8622 | 8794 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 75 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 2 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:189439 | Primary pigmented nodular adrenocortical disease | | | | 134 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | STS CL E G H | 412 | 11425 | OMIM:308100 | Ichthyosis, X-linked | | | | 19 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | | | | 19 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | 177 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0010788 | HP:0010788 | Testicular neoplasm | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0010788 | HP:0100616 | Testicular teratoma | 1 | CL E G H | | | | | | | | | | |
HP:0010788 | HP:0100005 | Testicular mesothelioma | 1 | CL E G H | | | | | | | | | | |
HP:0010788 | HP:0034380 | Juvenile type testicular granulosa cell tumor | 1 | CL E G H | | | | | | | | | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040283 - Occasional | | | 112 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0010788 | HP:0100619 | Sertoli cell neoplasm | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0010788 | HP:0100617 | Testicular seminoma | 1 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 1 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 87 | | |
HP:0010788 | HP:0100617 | Testicular seminoma | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0010788 | HP:0100617 | Testicular seminoma | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0010788 | HP:0100617 | Testicular seminoma | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0010788 | HP:0100619 | Sertoli cell neoplasm | 1 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 13 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 94 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 26 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 13 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 48 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 38 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0010788 | HP:0100619 | Sertoli cell neoplasm | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | HP:0040284 - Very rare | | | 13 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0010788 | HP:0100619 | Sertoli cell neoplasm | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | HP:0040284 - Very rare | | | 134 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 109 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 45 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 45 | | |
HP:0010788 | HP:0100619 | Sertoli cell neoplasm | 1 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | | | | 740 | | |
HP:0010788 | HP:0100617 | Testicular seminoma | 1 | STS CL E G H | 412 | 11425 | ORPHA:281090 | Syndromic recessive X-linked ichthyosis | HP:0040283 - Occasional | | | 19 | | |
HP:0010788 | HP:0025451 | Testicular adrenal rest tumor | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 85 | | |
HP:0010788 | HP:0100618 | Leydig cell neoplasia | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040284 - Very rare | | | 85 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 177 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 149 | | |
HP:0010788 | HP:0000030 | Testicular gonadoblastoma | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 31 | | |
HP:0010788 | HP:0008204 | Precocious puberty with Sertoli cell tumor | 2 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |