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:0000869 | HP:0000869 | Secondary amenorrhea | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | BMP15 CL E G H | 9210 | 1068 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 16 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | BMP15 CL E G H | 9210 | 1068 | OMIM:300510 | Ovarian dysgenesis 2 | . | | | 16 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | BNC1 CL E G H | 646 | 1081 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | C14ORF39 CL E G H | 317761 | 19849 | OMIM:619203 | PREMATURE OVARIAN FAILURE 18; POF18 | | | | | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 515 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | DIAPH2 CL E G H | 1730 | 2877 | OMIM:300511 | Premature ovarian failure 2A | . | | | 6 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 4 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | EIF2B1 CL E G H | 1967 | 3257 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 42 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | EIF2B2 CL E G H | 8892 | 3258 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 24 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | EIF2B3 CL E G H | 8891 | 3259 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 32 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | EIF2B4 CL E G H | 8890 | 3260 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 38 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | EIF2B5 CL E G H | 8893 | 3261 | OMIM:603896 | Leukoencephalopathy with vanishing white matter | . | | | 48 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | ERAL1 CL E G H | 26284 | 3424 | OMIM:617565 | PERRAULT SYNDROME 6; PRLTS6 | | | | 1 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:616946 | PREMATURE OVARIAN FAILURE 11; POF11 | | | | 199 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 17 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 172 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FIGLA CL E G H | 344018 | 24669 | OMIM:612310 | PREMATURE OVARIAN FAILURE 6; POF6 | | | | 17 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040283 - Occasional | | | 92 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FOXL2 CL E G H | 668 | 1092 | OMIM:608996 | Premature ovarian failure 3 | . | | | 92 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | FSHR CL E G H | 2492 | 3969 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 50 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | GNRH1 CL E G H | 2796 | 4419 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 15 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | GNRHR CL E G H | 2798 | 4421 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 92 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 8 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | HSF2BP CL E G H | 11077 | 5226 | OMIM:619245 | PREMATURE OVARIAN FAILURE 19; POF19 | | | | 1 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | KISS1 CL E G H | 3814 | 6341 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 3 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | KISS1R CL E G H | 84634 | 4510 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 14 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | LARS2 CL E G H | 23395 | 17095 | OMIM:615300 | Perrault syndrome 4 | | | | 54 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | LHB CL E G H | 3972 | 6584 | OMIM:228300 | Hypogonadotropic hypogonadism 23 without anosmia | . | | | 9 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:280365 | Autosomal semi-dominant severe lipodystrophic laminopathy | HP:0040282 - Frequent | | | 645 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:2348 | Familial partial lipodystrophy, Dunnigan type | HP:0040282 - Frequent | | | 645 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | MRPS22 CL E G H | 56945 | 14508 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 25 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | MSH4 CL E G H | 4438 | 7327 | OMIM:619938 | | | | | | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NOBOX CL E G H | 135935 | 22448 | OMIM:611548 | Premature ovarian failure 5 | HP:0040281 - Very frequent | | | 40 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 38 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NR5A1 CL E G H | 2516 | 7983 | OMIM:612964 | PREMATURE OVARIAN FAILURE 7; POF7 | | | | 38 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NSMF CL E G H | 26012 | 29843 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 5 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | POLR3H CL E G H | 171568 | 30349 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PPARG CL E G H | 5468 | 9236 | ORPHA:79083 | PPARG-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:610489 | Pigmented nodular adrenocortical disease, primary, 1 | | | | 134 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 9 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PSMC3IP CL E G H | 29893 | 17928 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | RCBTB1 CL E G H | 55213 | 18243 | OMIM:617175 | RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA | | | | 8 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | SPIDR CL E G H | 23514 | 28971 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 5 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | TAC3 CL E G H | 6866 | 11521 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 6 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 34 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | . | | | 1 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | TKT CL E G H | 7086 | 11834 | ORPHA:488618 | Transketolase deficiency | HP:0040283 - Occasional | | | 4 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:432 | Normosmic congenital hypogonadotropic hypogonadism | HP:0040282 - Frequent | | | 10 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0000869 | HP:0000869 | Secondary amenorrhea | 0 | ZSWIM7 CL E G H | 125150 | 26993 | ORPHA:243 | 46,XX gonadal dysgenesis | HP:0040283 - Occasional | | | | | |