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:0100615 | HP:0100615 | Ovarian neoplasm | 0 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | | | | 54 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BARD1 CL E G H | 580 | 952 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 790 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:604370 | Breast-Ovarian cancer, familial, susceptibility to, 1 | | | | 5769 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 5769 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA1 CL E G H | 672 | 1100 | OMIM:617883 | Fanconi anemia, complementation group S | . | | | 5769 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 5769 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:612555 | Breast-Ovarian cancer, familial, susceptibility to, 2 | . | | | 7642 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 7642 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 7642 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 1086 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | | | | 1003 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 289 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 833 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | | | | 88 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | DHH CL E G H | 50846 | 2865 | OMIM:233420 | 46,xy sex reversal 7 | | | | 21 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | 670 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 1 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | EPCAM CL E G H | 4072 | 11529 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 170 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | | | | 77 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | FAN1 CL E G H | 22909 | 29170 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | | | | 175 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | FOXE1 CL E G H | 2304 | 3806 | OMIM:616534 | Thyroid cancer, nonmedullary, 4 | | | | 9 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 87 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040282 - Frequent | | | | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 196 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 13 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MAP3K1 CL E G H | 4214 | 6848 | OMIM:613762 | 46,xy sex reversal 6 | | | | 13 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MLH1 CL E G H | 4292 | 7127 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1819 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MLH1 CL E G H | 4292 | 7127 | OMIM:158320 | Muir-Torre syndrome | | | | 1819 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MLH3 CL E G H | 27030 | 7128 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 532 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MSH2 CL E G H | 4436 | 7325 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2162 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MSH2 CL E G H | 4436 | 7325 | OMIM:158320 | Muir-Torre syndrome | | | | 2162 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MSH6 CL E G H | 2956 | 7329 | OMIM:614350 | Colorectal cancer, hereditary nonpolyposis, type 5 | | | | 2232 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | MSH6 CL E G H | 2956 | 7329 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 2232 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 48 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 38 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | | | | 5 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 1349 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 1349 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 192 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 162 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | | | | 162 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PMS1 CL E G H | 5378 | 9121 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 56 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PMS2 CL E G H | 5395 | 9122 | OMIM:614337 | Colorectal cancer, hereditary nonpolyposis, type 4 | . | | | 1121 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PMS2 CL E G H | 5395 | 9122 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 1121 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | | | | 138 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | | | | 665 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 948 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:65285 | Lhermitte-Duclos disease | HP:0040282 - Frequent | | | 948 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:137608 | Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | | | | | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RAD50 CL E G H | 10111 | 9816 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 789 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 391 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RAD51D CL E G H | 5892 | 9823 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RELA CL E G H | 5970 | 9955 | ORPHA:251636 | Ependymoma | HP:0040284 - Very rare | | | 1 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | RNF43 CL E G H | 54894 | 18505 | ORPHA:157798 | Serrated polyposis syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 504 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 109 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 23 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | HP:0040284 - Very rare | | | 4 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:144 | Lynch syndrome | HP:0040283 - Occasional | | | 253 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | | | | 911 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:145 | Hereditary breast and ovarian cancer syndrome | HP:0040281 - Very frequent | | | 911 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 2 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 177 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | | | | 177 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040283 - Occasional | | | 177 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 149 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | | | | 31 | | |
HP:0100615 | HP:0100615 | Ovarian neoplasm | 0 | ZFTA CL E G H | 65998 | 28449 | ORPHA:251636 | Ependymoma | HP:0040284 - Very rare | | | | | |
HP:0100615 | HP:0031920 | Malignant ovarian granulosa cell tumor | 1 | CL E G H | | | | | | | | | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | . | | | 54 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | AKT1 CL E G H | 207 | 391 | OMIM:167000 | Ovarian cancer | . | | | 54 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | BRCA1 CL E G H | 672 | 1100 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 5769 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | BRCA2 CL E G H | 675 | 1101 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 7642 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | . | | | 1003 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | CDH1 CL E G H | 999 | 1748 | OMIM:167000 | Ovarian cancer | . | | | 1003 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 289 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | . | | | 88 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:167000 | Ovarian cancer | . | | | 88 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | DHH CL E G H | 50846 | 2865 | OMIM:233420 | 46,xy sex reversal 7 | | | | 21 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0100615 | HP:0031918 | Ovarian sex cord-stromal tumor | 1 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 1 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | . | | | 77 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | ERBB2 CL E G H | 2064 | 3430 | OMIM:167000 | Ovarian cancer | . | | | 77 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 87 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 196 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 13 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | MAP3K1 CL E G H | 4214 | 6848 | OMIM:613762 | 46,xy sex reversal 6 | . | | | 13 | | |
HP:0100615 | HP:0031918 | Ovarian sex cord-stromal tumor | 1 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0100615 | HP:0012226 | Ovarian teratoma | 1 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | | | | 5 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 48 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 38 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | . | | | 5 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | OPCML CL E G H | 4978 | 8143 | OMIM:167000 | Ovarian cancer | . | | | 5 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PALB2 CL E G H | 79728 | 26144 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 1349 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PALLD CL E G H | 23022 | 17068 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 192 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100615 | HP:0012226 | Ovarian teratoma | 1 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | . | | | 162 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:167000 | Ovarian cancer | . | | | 162 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100615 | HP:0012226 | Ovarian teratoma | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0100615 | HP:0006774 | Ovarian papillary adenocarcinoma | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | . | | | 138 | | |
HP:0100615 | HP:0100621 | Dysgerminoma | 1 | PRKN CL E G H | 5071 | 8607 | OMIM:167000 | Ovarian cancer | . | | | 138 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0100615 | HP:0010618 | Ovarian fibroma | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0100615 | HP:0010618 | Ovarian fibroma | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0100615 | HP:0010618 | Ovarian fibroma | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | RABL3 CL E G H | 285282 | 18072 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | RAD51C CL E G H | 5889 | 9820 | OMIM:613399 | BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3 | | | | 391 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 504 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 109 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0100615 | HP:0010618 | Ovarian fibroma | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0100615 | HP:0025318 | Ovarian carcinoma | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1333 | Familial pancreatic carcinoma | HP:0040283 - Occasional | | | 911 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 177 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | WT1 CL E G H | 7490 | 12796 | OMIM:136680 | Frasier syndrome | | | | 177 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 149 | | |
HP:0100615 | HP:0000149 | Ovarian gonadoblastoma | 1 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 31 | | |
HP:0100615 | HP:0030983 | Ovarian thecoma | 2 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0100615 | HP:0031919 | Juvenile type ovarian granulosa cell tumor | 2 | MBD4 CL E G H | 8930 | 6919 | OMIM:619975 | | | | | 1 | | |
HP:0100615 | HP:0025274 | Ovarian dermoid cyst | 2 | MSH3 CL E G H | 4437 | 7326 | ORPHA:480536 | MSH3-related attenuated familial adenomatous polyposis | HP:0040283 - Occasional | | | 5 | | |
HP:0100615 | HP:0025274 | Ovarian dermoid cyst | 2 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0100615 | HP:0025274 | Ovarian dermoid cyst | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |