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:0000100	HP:0000100	Nephrotic syndrome	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		75
HP:0000100	HP:0000100	Nephrotic syndrome	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0000100	HP:0000100	Nephrotic syndrome	0	ANLN CL E G H	54443	14082	OMIM:616032	Focal segmental glomerulosclerosis 8	.		6
HP:0000100	HP:0000100	Nephrotic syndrome	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.		40
HP:0000100	HP:0000100	Nephrotic syndrome	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0000100	HP:0000100	Nephrotic syndrome	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0000100	HP:0000100	Nephrotic syndrome	0	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000100	HP:0000100	Nephrotic syndrome	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.		8
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0000100	HP:0000100	Nephrotic syndrome	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0000100	HP:0000100	Nephrotic syndrome	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0000100	HP:0000100	Nephrotic syndrome	0	C3 CL E G H	718	1318	OMIM:613779	Complement component 3 deficiency, autosomal recessive	.		92
HP:0000100	HP:0000100	Nephrotic syndrome	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA	.		87
HP:0000100	HP:0000100	Nephrotic syndrome	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0000100	HP:0000100	Nephrotic syndrome	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000100	HP:0000100	Nephrotic syndrome	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		515
HP:0000100	HP:0000100	Nephrotic syndrome	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0000100	HP:0000100	Nephrotic syndrome	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.		161
HP:0000100	HP:0000100	Nephrotic syndrome	0	COL4A3 CL E G H	1285	2204	OMIM:203780	Alport syndrome, autosomal recessive	.		161
HP:0000100	HP:0000100	Nephrotic syndrome	0	COL4A4 CL E G H	1286	2206	OMIM:203780	Alport syndrome, autosomal recessive	.		174
HP:0000100	HP:0000100	Nephrotic syndrome	0	COL4A5 CL E G H	1287	2207	OMIM:301050	Alport syndrome, X-linked	.		678
HP:0000100	HP:0000100	Nephrotic syndrome	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000100	HP:0000100	Nephrotic syndrome	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent		54
HP:0000100	HP:0000100	Nephrotic syndrome	0	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6	.		39
HP:0000100	HP:0000100	Nephrotic syndrome	0	COQ8B CL E G H	79934	19041	OMIM:615573	Nephrotic syndrome, type 9	.		35
HP:0000100	HP:0000100	Nephrotic syndrome	0	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9	.		12
HP:0000100	HP:0000100	Nephrotic syndrome	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0000100	HP:0000100	Nephrotic syndrome	0	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000100	HP:0000100	Nephrotic syndrome	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0000100	HP:0000100	Nephrotic syndrome	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.		17
HP:0000100	HP:0000100	Nephrotic syndrome	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0000100	HP:0000100	Nephrotic syndrome	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10			4
HP:0000100	HP:0000100	Nephrotic syndrome	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.		47
HP:0000100	HP:0000100	Nephrotic syndrome	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040281 - Very frequent		9
HP:0000100	HP:0000100	Nephrotic syndrome	0	FN1 CL E G H	2335	3778	OMIM:601894	Glomerulopathy with fibronectin deposits 2	.		9
HP:0000100	HP:0000100	Nephrotic syndrome	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare		32
HP:0000100	HP:0000100	Nephrotic syndrome	0	GATA3 CL E G H	2625	4172	OMIM:146255	Hypoparathyroidism, sensorineural deafness, and renal dysplasia			83
HP:0000100	HP:0000100	Nephrotic syndrome	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		87
HP:0000100	HP:0000100	Nephrotic syndrome	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0000100	HP:0000100	Nephrotic syndrome	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.		53
HP:0000100	HP:0000100	Nephrotic syndrome	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0000100	HP:0000100	Nephrotic syndrome	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0000100	HP:0000100	Nephrotic syndrome	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0000100	HP:0000100	Nephrotic syndrome	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		48
HP:0000100	HP:0000100	Nephrotic syndrome	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		94
HP:0000100	HP:0000100	Nephrotic syndrome	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital			6
HP:0000100	HP:0000100	Nephrotic syndrome	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0000100	HP:0000100	Nephrotic syndrome	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16	.		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000100	HP:0000100	Nephrotic syndrome	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000100	HP:0000100	Nephrotic syndrome	0	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0000100	HP:0000100	Nephrotic syndrome	0	LAMB2 CL E G H	3913	6487	OMIM:614199	Nephrotic syndrome, type 5, with or without ocular abnormalities		HP:0003623 - Neonatal onset	92
HP:0000100	HP:0000100	Nephrotic syndrome	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	HP:0003623 - Neonatal onset	92
HP:0000100	HP:0000100	Nephrotic syndrome	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		88
HP:0000100	HP:0000100	Nephrotic syndrome	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.		11
HP:0000100	HP:0000100	Nephrotic syndrome	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0000100	HP:0000100	Nephrotic syndrome	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.		165
HP:0000100	HP:0000100	Nephrotic syndrome	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.		32
HP:0000100	HP:0000100	Nephrotic syndrome	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0000100	HP:0000100	Nephrotic syndrome	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.		59
HP:0000100	HP:0000100	Nephrotic syndrome	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		13
HP:0000100	HP:0000100	Nephrotic syndrome	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040284 - Very rare
HP:0000100	HP:0000100	Nephrotic syndrome	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0000100	HP:0000100	Nephrotic syndrome	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0000100	HP:0000100	Nephrotic syndrome	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0000100	HP:0000100	Nephrotic syndrome	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0000100	HP:0000100	Nephrotic syndrome	0	MME CL E G H	4311	7154	ORPHA:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	HP:0040281 - Very frequent		18
HP:0000100	HP:0000100	Nephrotic syndrome	0	MYO1E CL E G H	4643	7599	OMIM:614131	Focal segmental glomerulosclerosis 6	.		3
HP:0000100	HP:0000100	Nephrotic syndrome	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000100	HP:0000100	Nephrotic syndrome	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent		217
HP:0000100	HP:0000100	Nephrotic syndrome	0	NOS1AP CL E G H	9722	16859	OMIM:619155	NEPHROTIC SYNDROME, TYPE 22; NPHS22			4
HP:0000100	HP:0000100	Nephrotic syndrome	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0000100	HP:0000100	Nephrotic syndrome	0	NPHS1 CL E G H	4868	7908	ORPHA:839	Congenital nephrotic syndrome, Finnish type	HP:0040281 - Very frequent		241
HP:0000100	HP:0000100	Nephrotic syndrome	0	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1			241
HP:0000100	HP:0000100	Nephrotic syndrome	0	NPHS2 CL E G H	7827	13394	OMIM:600995	Nephrotic syndrome, type 2	.		69
HP:0000100	HP:0000100	Nephrotic syndrome	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		48
HP:0000100	HP:0000100	Nephrotic syndrome	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		38
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		5
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	.		5
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP133 CL E G H	55746	18016	OMIM:618349	Galloway-Mowat syndrome 8	.		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17
HP:0000100	HP:0000100	Nephrotic syndrome	0	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12			5
HP:0000100	HP:0000100	Nephrotic syndrome	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000100	HP:0000100	Nephrotic syndrome	0	PAX2 CL E G H	5076	8616	OMIM:616002	Focal segmental glomerulosclerosis 7	.		39
HP:0000100	HP:0000100	Nephrotic syndrome	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0000100	HP:0000100	Nephrotic syndrome	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040281 - Very frequent		54
HP:0000100	HP:0000100	Nephrotic syndrome	0	PLCE1 CL E G H	51196	17175	OMIM:610725	Nephrotic syndrome, type 3	.		118
HP:0000100	HP:0000100	Nephrotic syndrome	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0000100	HP:0000100	Nephrotic syndrome	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0000100	HP:0000100	Nephrotic syndrome	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0000100	HP:0000100	Nephrotic syndrome	0	PTPRO CL E G H	5800	9678	OMIM:614196	Nephrotic syndrome, type 6	.		2
HP:0000100	HP:0000100	Nephrotic syndrome	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		127
HP:0000100	HP:0000100	Nephrotic syndrome	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		50
HP:0000100	HP:0000100	Nephrotic syndrome	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0000100	HP:0000100	Nephrotic syndrome	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional		37
HP:0000100	HP:0000100	Nephrotic syndrome	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0000100	HP:0000100	Nephrotic syndrome	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0000100	HP:0000100	Nephrotic syndrome	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.		77
HP:0000100	HP:0000100	Nephrotic syndrome	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0000100	HP:0000100	Nephrotic syndrome	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040283 - Occasional		131
HP:0000100	HP:0000100	Nephrotic syndrome	0	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14	.		8
HP:0000100	HP:0000100	Nephrotic syndrome	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0000100	HP:0000100	Nephrotic syndrome	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000100	HP:0000100	Nephrotic syndrome	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0000100	HP:0000100	Nephrotic syndrome	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0000100	HP:0000100	Nephrotic syndrome	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		109
HP:0000100	HP:0000100	Nephrotic syndrome	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		23
HP:0000100	HP:0000100	Nephrotic syndrome	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0000100	HP:0000100	Nephrotic syndrome	0	TBC1D8B CL E G H	54885	24715	OMIM:301028	Nephrotic syndrome, type 20	.		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000100	HP:0000100	Nephrotic syndrome	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0000100	HP:0000100	Nephrotic syndrome	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0000100	HP:0000100	Nephrotic syndrome	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0000100	HP:0000100	Nephrotic syndrome	0	TRPC6 CL E G H	7225	12338	OMIM:603965	Focal segmental glomerulosclerosis 2	.		107
HP:0000100	HP:0000100	Nephrotic syndrome	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0000100	HP:0000100	Nephrotic syndrome	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		2
HP:0000100	HP:0000100	Nephrotic syndrome	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0000100	HP:0000100	Nephrotic syndrome	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6	HP:0040284 - Very rare
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDR73 CL E G H	84942	25928	ORPHA:83472	CAMOS syndrome	HP:0040282 - Frequent		14
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040281 - Very frequent		14
HP:0000100	HP:0000100	Nephrotic syndrome	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	OMIM:194080	Denys-Drash syndrome	.		177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	ORPHA:220	Denys-Drash syndrome	HP:0040281 - Very frequent		177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	OMIM:136680	Frasier syndrome			177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	ORPHA:347	Frasier syndrome	HP:0040282 - Frequent		177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WT1 CL E G H	7490	12796	OMIM:256370	Nephrotic syndrome, type 4	.		177
HP:0000100	HP:0000100	Nephrotic syndrome	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		149
HP:0000100	HP:0000100	Nephrotic syndrome	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2			46
HP:0000100	HP:0000100	Nephrotic syndrome	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional		46
HP:0000100	HP:0000100	Nephrotic syndrome	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040284 - Very rare		31
HP:0000100	HP:0000100	Nephrotic syndrome	0	ZNF592 CL E G H	9640	28986	ORPHA:83472	CAMOS syndrome	HP:0040282 - Frequent		4
HP:0000100	HP:0000100	Nephrotic syndrome	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000100	HP:0025647	Steroid-sensitive nephrotic syndrome	1	CL E G H
HP:0000100	HP:0012589	Multidrug-resistant nephrotic syndrome	1	CL E G H
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	AVIL CL E G H	10677	14188	OMIM:618594	NEPHROTIC SYNDROME, TYPE 21; NPHS21
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	COQ6 CL E G H	51004	20233	OMIM:614650	Coenzyme Q10 deficiency, primary, 6			39
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	CRB2 CL E G H	286204	18688	OMIM:616220	Focal segmental glomerulosclerosis 9			12
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	DAAM2 CL E G H	23500	18143	OMIM:619263	NEPHROTIC SYNDROME, TYPE 24; NPHS24
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10			4
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	LAMA5 CL E G H	3911	6485	OMIM:620049				5
HP:0000100	HP:0025650	Steroid-dependent nephrotic syndrome	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0000100	HP:0008677	Congenital nephrotic syndrome	1	NPHS1 CL E G H	4868	7908	OMIM:256300	Nephrotic syndrome, type 1	.		241
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	NUP133 CL E G H	55746	18016	OMIM:618177	NEPHROTIC SYNDROME, TYPE 18; NPHS18			1
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	NUP160 CL E G H	23279	18017	OMIM:618178	Nephrotic syndrome, type 19	.
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	NUP205 CL E G H	23165	18658	OMIM:616893	NEPHROTIC SYNDROME, TYPE 13; NPHS13			1
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	NUP85 CL E G H	79902	8734	OMIM:618176	Nephrotic syndrome, type 17	.
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	NUP93 CL E G H	9688	28958	OMIM:616892	Nephrotic syndrome, type 12		HP:0011463 - Childhood onset	5
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	SGPL1 CL E G H	8879	10817	OMIM:617575	Nephrotic syndrome, type 14			8
HP:0000100	HP:0008695	Transient nephrotic syndrome	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0000100	HP:0012588	Steroid-resistant nephrotic syndrome	1	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5
HP:0000100	HP:0025649	Steroid-sensitive nephrotic syndrome with frequent relapses	2	CL E G H
HP:0000100	HP:0025648	Steroid-sensitive nephrotic syndrome with infrequent relapses	2	CL E G H