Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000105	HP:0000105	Enlarged kidney	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000105	HP:0000105	Enlarged kidney	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0000105	HP:0000105	Enlarged kidney	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		93
HP:0000105	HP:0000105	Enlarged kidney	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0000105	HP:0000105	Enlarged kidney	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		5
HP:0000105	HP:0000105	Enlarged kidney	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0000105	HP:0000105	Enlarged kidney	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0000105	HP:0000105	Enlarged kidney	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0000105	HP:0000105	Enlarged kidney	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0000105	HP:0000105	Enlarged kidney	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	HP:0003577 - Congenital onset	101
HP:0000105	HP:0000105	Enlarged kidney	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0000105	HP:0000105	Enlarged kidney	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	.		304
HP:0000105	HP:0000105	Enlarged kidney	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0000105	HP:0000105	Enlarged kidney	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0000105	HP:0000105	Enlarged kidney	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0000105	HP:0000105	Enlarged kidney	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0000105	HP:0000105	Enlarged kidney	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0000105	HP:0000105	Enlarged kidney	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0000105	HP:0000105	Enlarged kidney	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		6
HP:0000105	HP:0000105	Enlarged kidney	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0000105	HP:0000105	Enlarged kidney	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0000105	HP:0000105	Enlarged kidney	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000105	HP:0000105	Enlarged kidney	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0000105	HP:0000105	Enlarged kidney	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		148
HP:0000105	HP:0000105	Enlarged kidney	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0000105	HP:0000105	Enlarged kidney	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0000105	HP:0000105	Enlarged kidney	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0000105	HP:0000105	Enlarged kidney	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0000105	HP:0000105	Enlarged kidney	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0000105	HP:0000105	Enlarged kidney	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0000105	HP:0000105	Enlarged kidney	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0000105	HP:0000105	Enlarged kidney	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0000105	HP:0000105	Enlarged kidney	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0000105	HP:0000105	Enlarged kidney	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040283 - Occasional		162
HP:0000105	HP:0000105	Enlarged kidney	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		342
HP:0000105	HP:0000105	Enlarged kidney	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		106
HP:0000105	HP:0000105	Enlarged kidney	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0000105	HP:0000105	Enlarged kidney	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0000105	HP:0000105	Enlarged kidney	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0000105	HP:0000105	Enlarged kidney	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0000105	HP:0000105	Enlarged kidney	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0000105	HP:0000105	Enlarged kidney	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0000105	HP:0000105	Enlarged kidney	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0000105	HP:0000105	Enlarged kidney	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0000105	HP:0000105	Enlarged kidney	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0000105	HP:0000105	Enlarged kidney	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000105	HP:0000105	Enlarged kidney	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0000105	HP:0000105	Enlarged kidney	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0000105	HP:0000105	Enlarged kidney	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39