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:0000072 | HP:0000072 | Hydroureter | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040281 - Very frequent | | | 23 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ACTG2 CL E G H | 72 | 145 | OMIM:619431 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5 | | | | 23 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | AQP2 CL E G H | 359 | 634 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040283 - Occasional | | | 75 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | AVPR2 CL E G H | 554 | 897 | ORPHA:223 | Nephrogenic diabetes insipidus | HP:0040283 - Occasional | | | 67 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 101 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 101 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | CHRM3 CL E G H | 1131 | 1952 | ORPHA:2970 | Prune belly syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | CHRM3 CL E G H | 1131 | 1952 | OMIM:100100 | Prune belly syndrome | . | | | 4 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | HP:0040283 - Occasional | | | 3 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 199 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040283 - Occasional | | | 55 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 209 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 137 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | HPSE2 CL E G H | 60495 | 18374 | OMIM:236730 | Urofacial syndrome | . | | | 9 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 116 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 167 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040283 - Occasional | | | 135 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LMOD1 CL E G H | 25802 | 6647 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LMOD1 CL E G H | 25802 | 6647 | OMIM:619362 | MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3 | | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:1458 | CODAS syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:236700 | Mckusick-Kaufman syndrome | . | | | 69 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 418 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:2241 | Megacystis-microcolon-intestinal hypoperistalsis syndrome | HP:0040282 - Frequent | | | 326 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | MYLK CL E G H | 4638 | 7590 | OMIM:249210 | MOVED TO 155310 | | | | 326 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:568 | Microphthalmia, Lenz type | HP:0040282 - Frequent | | | 23 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | | | 23 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | HP:0040284 - Very rare | | | 31 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | | | | 12 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | | | | 12 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PLD1 CL E G H | 5337 | 9067 | OMIM:212093 | Cardiac valvular defect, developmental | . | | | 4 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | SOX17 CL E G H | 64321 | 18122 | OMIM:613674 | Vesicoureteral reflux 3 | . | | | 3 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | . | | | 5 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0000072 | HP:0000072 | Hydroureter | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0000072 | HP:4000035 | Primary obstructive megaureter | 1 | CL E G H | | | | | | | | | | |
HP:0000072 | HP:0008676 | Congenital megaureter | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000072 | HP:0008676 | Congenital megaureter | 1 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000072 | HP:0008676 | Congenital megaureter | 1 | TBX18 CL E G H | 9096 | 11595 | OMIM:143400 | Congenital anomalies of kidney and urinary tract 2 | . | | | 5 | | |