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:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | | | | 125 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | BNC1 CL E G H | 646 | 1081 | OMIM:618723 | PREMATURE OVARIAN FAILURE 16; POF16 | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | | | | 3 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | MCM9 CL E G H | 254394 | 21484 | OMIM:616185 | Ovarian dysgenesis 4 | | | | 4 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | | | | 177 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619146 | PREMATURE OVARIAN FAILURE 17; POF17 | | | | 125 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025132 | Abnormal circulating estrogen level | 0 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |
HP:0025132 | HP:0025138 | Abnormal serum estrone | 1 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0025135 | Abnormal serum estriol | 1 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | | | | 125 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | | | | 125 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 16 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | BNC1 CL E G H | 646 | 1081 | OMIM:618723 | PREMATURE OVARIAN FAILURE 16; POF16 | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | | | | 17 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | | | | 53 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | | | | 21 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 50 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | | | | 15 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | | | | 3 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | MCM9 CL E G H | 254394 | 21484 | OMIM:616185 | Ovarian dysgenesis 4 | | | | 4 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 25 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 38 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 5 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | | | | 177 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619146 | PREMATURE OVARIAN FAILURE 17; POF17 | | | | 125 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | | | | | | |
HP:0025132 | HP:0025133 | Abnormal serum estradiol | 1 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |
HP:0025132 | HP:0025137 | Decreased serum estriol | 2 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0025136 | Increased serum estriol | 2 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0025140 | Decreased serum estrone | 2 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0025139 | Increased serum estrone | 2 | CL E G H | | | | | | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040283 - Occasional | | | 125 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 16 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | BNC1 CL E G H | 646 | 1081 | OMIM:618723 | PREMATURE OVARIAN FAILURE 16; POF16 | | | | | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040281 - Very frequent | | | 53 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | DHH CL E G H | 50846 | 2865 | ORPHA:168563 | 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040281 - Very frequent | | | 23 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 50 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | GNRH1 CL E G H | 2796 | 4419 | OMIM:614841 | Hypogonadotropic hypogonadism 12 with or without anosmia | . | | | 15 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | KISS1 CL E G H | 3814 | 6341 | OMIM:614842 | Hypogonadotropic hypogonadism 13 with or without anosmia | | | | 3 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040281 - Very frequent | | | 47 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | MCM9 CL E G H | 254394 | 21484 | OMIM:616185 | Ovarian dysgenesis 4 | | | | 4 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 25 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 5 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040284 - Very rare | | | 138 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SEMA3A CL E G H | 10371 | 10723 | OMIM:614897 | Hypogonadotropic hypogonadism 16 with or without anosmia | | | | 14 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619146 | PREMATURE OVARIAN FAILURE 17; POF17 | | | | 125 | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0025132 | HP:0025134 | Increased serum estradiol | 2 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040281 - Very frequent | | | | | |
HP:0025132 | HP:0008214 | Decreased serum estradiol | 2 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |