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:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | ANOS1 CL E G H | 3730 | 6211 | OMIM:308700 | Hypogonadotropic hypogonadism 1 with or without anosmia | . | | | 65 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | NDNF CL E G H | 79625 | 26256 | OMIM:618841 | HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25 | | | | | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0003164 | HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |