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:0002667 | HP:0002667 | Nephroblastoma | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040284 - Very rare | | | 314 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 7642 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BRCA2 CL E G H | 675 | 1101 | OMIM:194070 | Wilms tumor 1 | . | | | 7642 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145001 | Hyperparathyroidism 2 | . | | | 169 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040284 - Very rare | | | 169 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040284 - Very rare | | | 169 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 114 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:618272 | Global developmental delay, lung cysts, overgrowth, and wilms tumor | . | | | 670 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DICER1 CL E G H | 23405 | 17098 | OMIM:180295 | RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2 | | | | 670 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 164 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DIS3L2 CL E G H | 129563 | 28648 | OMIM:267000 | Perlman syndrome | . | | | 164 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040282 - Frequent | | | 164 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 1 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 87 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 73 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:194070 | Wilms tumor 1 | . | | | 73 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:194070 | Wilms tumor 1 | . | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 4 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 4 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19 CL E G H | 283120 | 4713 | OMIM:194070 | Wilms tumor 1 | . | | | 4 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19-ICR CL E G H | 105259599 | | OMIM:194071 | Multiple tumor-associated chromosome region 1 | . | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2874 | Phakomatosis pigmentokeratotica | | | | 113 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 9 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 9 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:194070 | Wilms tumor 1 | . | | | 9 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 730 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | . | | | 1 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | ORPHA:2128 | Isolated hemihyperplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 13 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 48 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 38 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | HP:0040283 - Occasional | | | 1349 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | HP:0040282 - Frequent | | | 194 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:612918 | Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi | | | | 162 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:276280 | Hemihyperplasia-multiple lipomatosis syndrome | HP:0040284 - Very rare | | | 162 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | POU6F2 CL E G H | 11281 | 21694 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | POU6F2 CL E G H | 11281 | 21694 | OMIM:601583 | Wilms tumor 5 | . | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040283 - Occasional | | | 665 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | REST CL E G H | 5978 | 9966 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | REST CL E G H | 5978 | 9966 | OMIM:616806 | WILMS TUMOR 6; WT6 | | | | 7 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 109 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | SPRED1 CL E G H | 161742 | 20249 | ORPHA:137605 | Legius syndrome | | | | 136 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 23 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:151623 | Li-Fraumeni syndrome | . | | | 911 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TRIM28 CL E G H | 10155 | 16384 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TRIP13 CL E G H | 9319 | 12307 | OMIM:617598 | Mosaic variegated aneuploidy syndrome 3 | . | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 2 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194080 | Denys-Drash syndrome | . | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:220 | Denys-Drash syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:347 | Frasier syndrome | HP:0040284 - Very rare | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:654 | Nephroblastoma | HP:0040281 - Very frequent | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:256370 | Nephrotic syndrome, type 4 | . | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194070 | Wilms tumor 1 | . | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:194072 | Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 149 | | |
HP:0002667 | HP:0002667 | Nephroblastoma | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040284 - Very rare | | | 31 | | |