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:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | AR CL E G H | 367 | 644 | OMIM:300068 | Androgen insensitivity syndrome | . | | | 125 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | AR CL E G H | 367 | 644 | ORPHA:99429 | Complete androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | AR CL E G H | 367 | 644 | ORPHA:90797 | Partial androgen insensitivity syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:609441 | Acromesomelic dysplasia, Demirhan type | | | | 90 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619203 | PREMATURE OVARIAN FAILURE 18; POF18 | | | | | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | 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:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | 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:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:273250 | 46, XY sex reversal 11 | | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | DIAPH2 CL E G H | 1730 | 2877 | OMIM:300511 | Premature ovarian failure 2A | | | | 6 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 1 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | ESR2 CL E G H | 2100 | 3468 | OMIM:618187 | Ovarian dysgenesis 8 | . | | | | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | FANCM CL E G H | 57697 | 23168 | OMIM:618086 | Spermatogenic failure 28 | . | | | 107 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | FSHB CL E G H | 2488 | 3964 | OMIM:229070 | Hypogonadotropic hypogonadism 24 without anosmia | | | | 23 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 87 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | GCNA CL E G H | 93953 | 15805 | OMIM:301077 | SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4 | | | | | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | GDF9 CL E G H | 2661 | 4224 | OMIM:618014 | Premature ovarian failure 14 | . | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:176400 | Precocious puberty, central | . | | | 14 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 13 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | MCM8 CL E G H | 84515 | 16147 | OMIM:612885 | Premature ovarian failure 10 | . | | | 4 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 48 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 38 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:612965 | 46XY sex reversal 3 | | | | 38 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:612964 | PREMATURE OVARIAN FAILURE 7; POF7 | | | | 38 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | . | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | PPP2R3C CL E G H | 55012 | 17485 | OMIM:618419 | Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy | . | | | | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | PSMC3IP CL E G H | 29893 | 17928 | OMIM:614324 | Ovarian dysgenesis 3 | | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 109 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | SPIDR CL E G H | 23514 | 28971 | OMIM:619665 | OVARIAN DYSGENESIS 9; ODG9 | | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 23 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | SRY CL E G H | 6736 | 11311 | OMIM:400045 | 46XX sex reversal 1 | . | | | 23 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | SRY CL E G H | 6736 | 11311 | OMIM:400044 | 46XY sex reversal 1 | . | | | 23 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | STAG3 CL E G H | 10734 | 11356 | OMIM:615723 | Premature ovarian failure 8 | | | | 4 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 2 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 177 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 149 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | XRCC2 CL E G H | 7516 | 12829 | OMIM:619146 | PREMATURE OVARIAN FAILURE 17; POF17 | | | | 125 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040281 - Very frequent | | | 31 | | |
HP:0011969 | HP:0011969 | Elevated circulating luteinizing hormone level | 0 | ZSWIM7 CL E G H | 125150 | 26993 | OMIM:619834 | OVARIAN DYSGENESIS 10; ODG10 | | | | | | |