Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome		132
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS		78
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma		7642
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1		7642
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2		169
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor		670
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma		164
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome		164
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome		164
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis		1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome		102
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis		87
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma		73
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1		73
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma		4
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1		4
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome		9
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1		9
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis		13
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis		48
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis		38
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N		1349
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		194
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome		162
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome		162
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma		7
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis		109
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis		23
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome		911
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis		2
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome		177
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis		149
HP:0011794	HP:0011794	Embryonal renal neoplasm	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis		31
HP:0011794	HP:0100881	Congenital mesoblastic nephroma	1	CL E G H
HP:0011794	HP:0002667	Nephroblastoma	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional	132
HP:0011794	HP:0002667	Nephroblastoma	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare	145
HP:0011794	HP:0002667	Nephroblastoma	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040284 - Very rare	314
HP:0011794	HP:0008643	Nephroblastomatosis	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.	78
HP:0011794	HP:0002667	Nephroblastoma	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	7642
HP:0011794	HP:0002667	Nephroblastoma	1	BRCA2 CL E G H	675	1101	OMIM:194070	Wilms tumor 1	.	7642
HP:0011794	HP:0002667	Nephroblastoma	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	5
HP:0011794	HP:0002667	Nephroblastoma	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	76
HP:0011794	HP:0002667	Nephroblastoma	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0011794	HP:0002667	Nephroblastoma	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0011794	HP:0002667	Nephroblastoma	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.	169
HP:0011794	HP:0002667	Nephroblastoma	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare	169
HP:0011794	HP:0002667	Nephroblastoma	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare	169
HP:0011794	HP:0002667	Nephroblastoma	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0011794	HP:0002667	Nephroblastoma	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	17
HP:0011794	HP:0002667	Nephroblastoma	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	2
HP:0011794	HP:0002667	Nephroblastoma	1	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.	670
HP:0011794	HP:0002667	Nephroblastoma	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0011794	HP:0002667	Nephroblastoma	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	164
HP:0011794	HP:0002667	Nephroblastoma	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0011794	HP:0008643	Nephroblastomatosis	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0011794	HP:0002667	Nephroblastoma	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0011794	HP:0002667	Nephroblastoma	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	1
HP:0011794	HP:0002667	Nephroblastoma	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional	102
HP:0011794	HP:0002667	Nephroblastoma	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0011794	HP:0002667	Nephroblastoma	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional	2
HP:0011794	HP:0002667	Nephroblastoma	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	87
HP:0011794	HP:0002667	Nephroblastoma	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	73
HP:0011794	HP:0002667	Nephroblastoma	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0011794	HP:0002667	Nephroblastoma	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0011794	HP:0002667	Nephroblastoma	1	GPC3 CL E G H	2719	4451	OMIM:194070	Wilms tumor 1	.	73
HP:0011794	HP:0002667	Nephroblastoma	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0011794	HP:0002667	Nephroblastoma	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0011794	HP:0002667	Nephroblastoma	1	GPC4 CL E G H	2239	4452	OMIM:194070	Wilms tumor 1	.
HP:0011794	HP:0002667	Nephroblastoma	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	4
HP:0011794	HP:0002667	Nephroblastoma	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	4
HP:0011794	HP:0002667	Nephroblastoma	1	H19 CL E G H	283120	4713	OMIM:194070	Wilms tumor 1	.	4
HP:0011794	HP:0002667	Nephroblastoma	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0011794	HP:0002667	Nephroblastoma	1	H19-ICR CL E G H	105259599		OMIM:194071	Multiple tumor-associated chromosome region 1	.
HP:0011794	HP:0002667	Nephroblastoma	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0011794	HP:0002667	Nephroblastoma	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040283 - Occasional	33
HP:0011794	HP:0002667	Nephroblastoma	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0011794	HP:0002667	Nephroblastoma	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0011794	HP:0002667	Nephroblastoma	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	9
HP:0011794	HP:0002667	Nephroblastoma	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.	9
HP:0011794	HP:0002667	Nephroblastoma	1	IGF2 CL E G H	3481	5466	OMIM:194070	Wilms tumor 1	.	9
HP:0011794	HP:0002667	Nephroblastoma	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0011794	HP:0002667	Nephroblastoma	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0011794	HP:0002667	Nephroblastoma	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040283 - Occasional	1
HP:0011794	HP:0002667	Nephroblastoma	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	13
HP:0011794	HP:0002667	Nephroblastoma	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	48
HP:0011794	HP:0002667	Nephroblastoma	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	38
HP:0011794	HP:0002667	Nephroblastoma	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	HP:0040283 - Occasional	1349
HP:0011794	HP:0002667	Nephroblastoma	1	PAX6 CL E G H	5080	8620	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	194
HP:0011794	HP:0002667	Nephroblastoma	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040283 - Occasional	2
HP:0011794	HP:0002667	Nephroblastoma	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0011794	HP:0002667	Nephroblastoma	1	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040284 - Very rare	162
HP:0011794	HP:0002667	Nephroblastoma	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0011794	HP:0002667	Nephroblastoma	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0011794	HP:0002667	Nephroblastoma	1	POU6F2 CL E G H	11281	21694	OMIM:601583	Wilms tumor 5	.	2
HP:0011794	HP:0002667	Nephroblastoma	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040283 - Occasional	665
HP:0011794	HP:0002667	Nephroblastoma	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	7
HP:0011794	HP:0002667	Nephroblastoma	1	REST CL E G H	5978	9966	OMIM:616806	WILMS TUMOR 6; WT6		7
HP:0011794	HP:0002667	Nephroblastoma	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare	143
HP:0011794	HP:0002667	Nephroblastoma	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	109
HP:0011794	HP:0002667	Nephroblastoma	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0011794	HP:0002667	Nephroblastoma	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	23
HP:0011794	HP:0002667	Nephroblastoma	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.	911
HP:0011794	HP:0002667	Nephroblastoma	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0011794	HP:0002667	Nephroblastoma	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0011794	HP:0002667	Nephroblastoma	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional	2
HP:0011794	HP:0002667	Nephroblastoma	1	TRIP13 CL E G H	9319	12307	OMIM:617598	Mosaic variegated aneuploidy syndrome 3	.	2
HP:0011794	HP:0002667	Nephroblastoma	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0011794	HP:0002667	Nephroblastoma	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	2
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040284 - Very rare	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	OMIM:194070	Wilms tumor 1	.	177
HP:0011794	HP:0002667	Nephroblastoma	1	WT1 CL E G H	7490	12796	OMIM:194072	Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndrome	HP:0040282 - Frequent	177
HP:0011794	HP:0002667	Nephroblastoma	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	149
HP:0011794	HP:0002667	Nephroblastoma	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare	31
HP:0011794	HP:0011796	Perilobar nephroblastomatosis	2	CL E G H
HP:0011794	HP:0011795	Intralobar nephroblastomatosis	2	CL E G H