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:0000868 | HP:0000868 | Decreased fertility in females | 0 | AGPAT2 CL E G H | 10555 | 325 | OMIM:608594 | Lipodystrophy, congenital generalized, type 1 | | | | 85 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 95 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ASTL CL E G H | 431705 | 31704 | OMIM:619643 | OOCYTE MATURATION DEFECT 11; OOMD11 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | BLM CL E G H | 641 | 1058 | OMIM:210900 | Bloom syndrome | . | | | 314 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:269700 | Lipodystrophy, congenital generalized, type 2 | . | | | 105 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | C11ORF80 CL E G H | 79703 | 26197 | OMIM:618432 | HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90796 | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619697 | OOCYTE MATURATION DEFECT 12; OOMD12 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | | | | 92 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | | | | 92 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | HSF2BP CL E G H | 11077 | 5226 | OMIM:619245 | PREMATURE OVARIAN FAILURE 19; POF19 | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MEI1 CL E G H | 150365 | 28613 | OMIM:618431 | Hydatidiform mole, recurrent, 3 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040281 - Very frequent | | | 462 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | MSH5 CL E G H | 4439 | 7328 | OMIM:617442 | Premature ovarian failure 13 | | | | 5 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PANX1 CL E G H | 24145 | 8599 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PANX1 CL E G H | 24145 | 8599 | OMIM:618550 | OOCYTE MATURATION DEFECT 7; OOMD7 | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PATL2 CL E G H | 197135 | 33630 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PATL2 CL E G H | 197135 | 33630 | OMIM:617743 | Oocyte maturation defect 4 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PGR CL E G H | 5241 | 8910 | OMIM:264080 | Progesterone resistance | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | POF1B CL E G H | 79983 | 13711 | OMIM:300604 | Premature ovarian failure 2B | | | | 31 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | PSMC3IP CL E G H | 29893 | 17928 | OMIM:614324 | Ovarian dysgenesis 3 | | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | TLE6 CL E G H | 79816 | 30788 | OMIM:616814 | Preimplantation embryonic lethality 1 | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | TUBB8 CL E G H | 347688 | 20773 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | | | | 10 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | TUBB8 CL E G H | 347688 | 20773 | OMIM:616780 | Oocyte maturation defect 2 | | | | 10 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | WEE2 CL E G H | 494551 | 19684 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ZP1 CL E G H | 22917 | 13187 | OMIM:615774 | Oocyte maturation defect | | | | 1 | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ZP2 CL E G H | 7783 | 13188 | OMIM:618353 | OOCYTE MATURATION DEFECT 6; OOMD6 | | | | | | |
HP:0000868 | HP:0000868 | Decreased fertility in females | 0 | ZP3 CL E G H | 7784 | 13189 | OMIM:617712 | Oocyte maturation defect 3 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ASTL CL E G H | 431705 | 31704 | OMIM:619643 | OOCYTE MATURATION DEFECT 11; OOMD11 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | BTG4 CL E G H | 54766 | 13862 | OMIM:619009 | OOCYTE MATURATION DEFECT 8; OOMD8 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | C11ORF80 CL E G H | 79703 | 26197 | OMIM:618432 | HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 36 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 126 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 182 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 116 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 78 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 63 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 27 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 62 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 542 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 527 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 18 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 73 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 104 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 2 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 167 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 44 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | FBXO43 CL E G H | 286151 | 28521 | OMIM:619697 | OOCYTE MATURATION DEFECT 12; OOMD12 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | FOXL2 CL E G H | 668 | 1092 | OMIM:110100 | Blepharophimosis, epicanthus inversus, and ptosis | . | | | 92 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 9 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | HSF2BP CL E G H | 11077 | 5226 | OMIM:619245 | PREMATURE OVARIAN FAILURE 19; POF19 | | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 13 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | MEI1 CL E G H | 150365 | 28613 | OMIM:618431 | Hydatidiform mole, recurrent, 3 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | MSH5 CL E G H | 4439 | 7328 | OMIM:617442 | Premature ovarian failure 13 | | | | 5 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 50 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 201 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PANX1 CL E G H | 24145 | 8599 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | HP:0040280 - Obligate | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PANX1 CL E G H | 24145 | 8599 | OMIM:618550 | OOCYTE MATURATION DEFECT 7; OOMD7 | | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PATL2 CL E G H | 197135 | 33630 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | HP:0040280 - Obligate | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PATL2 CL E G H | 197135 | 33630 | OMIM:617743 | Oocyte maturation defect 4 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PGR CL E G H | 5241 | 8910 | OMIM:264080 | Progesterone resistance | . | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | POF1B CL E G H | 79983 | 13711 | OMIM:300604 | Premature ovarian failure 2B | | | | 31 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | PSMC3IP CL E G H | 29893 | 17928 | OMIM:614324 | Ovarian dysgenesis 3 | | | | 2 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | REC114 CL E G H | 283677 | 25065 | OMIM:619176 | OOCYTE MATURATION DEFECT 10; OOMD10 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 200 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 31 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 5 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 58 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 45 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 15 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 3 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | TLE6 CL E G H | 79816 | 30788 | OMIM:616814 | Preimplantation embryonic lethality 1 | | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | TRIP13 CL E G H | 9319 | 12307 | OMIM:619011 | OOCYTE MATURATION DEFECT 9; OOMD9 | | | | 2 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | TUBB8 CL E G H | 347688 | 20773 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | HP:0040280 - Obligate | | | 10 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | TUBB8 CL E G H | 347688 | 20773 | OMIM:616780 | Oocyte maturation defect 2 | | | | 10 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | WEE2 CL E G H | 494551 | 19684 | ORPHA:488191 | Female infertility due to oocyte meiotic arrest | HP:0040280 - Obligate | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ZP1 CL E G H | 22917 | 13187 | OMIM:615774 | Oocyte maturation defect | | | | 1 | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ZP2 CL E G H | 7783 | 13188 | OMIM:618353 | OOCYTE MATURATION DEFECT 6; OOMD6 | | | | | | |
HP:0000868 | HP:0008222 | Female infertility | 1 | ZP3 CL E G H | 7784 | 13189 | OMIM:617712 | Oocyte maturation defect 3 | | | | | | |