Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal renal physiology (HP:0012211)

Grandparent Node:
Increased inflammatory response (HP:0012649)

Parent Node:
Abnormal renal glomerulus morphology (HP:0000095)

Parent Node:
Nephritis (HP:0000123)

..Starting node
..Glomerulonephritis (HP:0000099)

Term ID:

Name:

Glomerulonephritis

Synonym:

Glomerular nephritis

Definition:

Inflammation of the renal glomeruli.

Comments:

Reference:

HP:0000099

Genes and Diseases:

Child Nodes:

........

Membranoproliferative glomerulonephritis (HP:0000793)

........

Crescentic glomerulonephritis (HP:0008653)

........

Membranous nephropathy (HP:0012578)

........

Minimal change glomerulonephritis (HP:0012579)

Sister Nodes:

Perinephritis (HP:0012784)

Pyelonephritis (HP:0012330)

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:0000099	HP:0000099	Glomerulonephritis	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		27
HP:0000099	HP:0000099	Glomerulonephritis	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000099	HP:0000099	Glomerulonephritis	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		6
HP:0000099	HP:0000099	Glomerulonephritis	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0000099	HP:0000099	Glomerulonephritis	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		4
HP:0000099	HP:0000099	Glomerulonephritis	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0000099	HP:0000099	Glomerulonephritis	0	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency		1
HP:0000099	HP:0000099	Glomerulonephritis	0	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency		2
HP:0000099	HP:0000099	Glomerulonephritis	0	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency		3
HP:0000099	HP:0000099	Glomerulonephritis	0	C4A CL E G H	720	1323	OMIM:614380	Complement component 4A deficiency	.	1
HP:0000099	HP:0000099	Glomerulonephritis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0000099	HP:0000099	Glomerulonephritis	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		105
HP:0000099	HP:0000099	Glomerulonephritis	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6		1
HP:0000099	HP:0000099	Glomerulonephritis	0	CFHR5 CL E G H	81494	24668	OMIM:614809	Cfhr5 deficiency	.	47
HP:0000099	HP:0000099	Glomerulonephritis	0	CFI CL E G H	3426	5394	OMIM:610984	Complement factor I deficiency	.	57
HP:0000099	HP:0000099	Glomerulonephritis	0	COL4A3 CL E G H	1285	2204	OMIM:104200	Alport syndrome, autosomal dominant	.	161
HP:0000099	HP:0000099	Glomerulonephritis	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		161
HP:0000099	HP:0000099	Glomerulonephritis	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0000099	HP:0000099	Glomerulonephritis	0	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0000099	HP:0000099	Glomerulonephritis	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		35
HP:0000099	HP:0000099	Glomerulonephritis	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		12
HP:0000099	HP:0000099	Glomerulonephritis	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0000099	HP:0000099	Glomerulonephritis	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	DGKE CL E G H	8526	2852	OMIM:615008	Nephrotic syndrome, type 7	.	17
HP:0000099	HP:0000099	Glomerulonephritis	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0000099	HP:0000099	Glomerulonephritis	0	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0000099	HP:0000099	Glomerulonephritis	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000099	HP:0000099	Glomerulonephritis	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		4
HP:0000099	HP:0000099	Glomerulonephritis	0	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10		4
HP:0000099	HP:0000099	Glomerulonephritis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0000099	HP:0000099	Glomerulonephritis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0000099	HP:0000099	Glomerulonephritis	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0000099	HP:0000099	Glomerulonephritis	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0000099	HP:0000099	Glomerulonephritis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0000099	HP:0000099	Glomerulonephritis	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0000099	HP:0000099	Glomerulonephritis	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		135
HP:0000099	HP:0000099	Glomerulonephritis	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0000099	HP:0000099	Glomerulonephritis	0	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0000099	HP:0000099	Glomerulonephritis	0	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000099	HP:0000099	Glomerulonephritis	0	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked
HP:0000099	HP:0000099	Glomerulonephritis	0	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to		11
HP:0000099	HP:0000099	Glomerulonephritis	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0000099	HP:0000099	Glomerulonephritis	0	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000099	HP:0000099	Glomerulonephritis	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		59
HP:0000099	HP:0000099	Glomerulonephritis	0	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15		59
HP:0000099	HP:0000099	Glomerulonephritis	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:0000099	HP:0000099	Glomerulonephritis	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0000099	HP:0000099	Glomerulonephritis	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		3
HP:0000099	HP:0000099	Glomerulonephritis	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		241
HP:0000099	HP:0000099	Glomerulonephritis	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		69
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		5
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11		5
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0000099	HP:0000099	Glomerulonephritis	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		5
HP:0000099	HP:0000099	Glomerulonephritis	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		39
HP:0000099	HP:0000099	Glomerulonephritis	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0000099	HP:0000099	Glomerulonephritis	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG		15
HP:0000099	HP:0000099	Glomerulonephritis	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		118
HP:0000099	HP:0000099	Glomerulonephritis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0000099	HP:0000099	Glomerulonephritis	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000099	HP:0000099	Glomerulonephritis	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0000099	HP:0000099	Glomerulonephritis	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		2
HP:0000099	HP:0000099	Glomerulonephritis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0000099	HP:0000099	Glomerulonephritis	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000099	HP:0000099	Glomerulonephritis	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0000099	HP:0000099	Glomerulonephritis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0000099	HP:0000099	Glomerulonephritis	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0000099	HP:0000099	Glomerulonephritis	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome		7
HP:0000099	HP:0000099	Glomerulonephritis	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		1
HP:0000099	HP:0000099	Glomerulonephritis	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0000099	HP:0000099	Glomerulonephritis	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0000099	HP:0000099	Glomerulonephritis	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		107
HP:0000099	HP:0000099	Glomerulonephritis	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000099	HP:0000099	Glomerulonephritis	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome		177
HP:0000099	HP:0000099	Glomerulonephritis	0	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0000099	HP:0000099	Glomerulonephritis	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	27
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	6
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	C1QA CL E G H	712	1241	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	1
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	C1QB CL E G H	713	1242	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	2
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	C1QC CL E G H	714	1245	OMIM:613652	C1q deficiency	HP:0040283 - Occasional	3
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	105
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	161
HP:0000099	HP:0008653	Crescentic glomerulonephritis	1	COPA CL E G H	1314	2230	OMIM:616414	AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK		5
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	35
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	12
HP:0000099	HP:0033726	Lupus nephritis	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus		10
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0033726	Lupus nephritis	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus		3
HP:0000099	HP:0033726	Lupus nephritis	1	DNASE1L3 CL E G H	1776	2959	OMIM:614420	Systemic lupus erythematosus 16		3
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	EMP2 CL E G H	2013	3334	OMIM:615861	NEPHROTIC SYNDROME, TYPE 10; NPHS10		4
HP:0000099	HP:0033726	Lupus nephritis	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus		6
HP:0000099	HP:0033726	Lupus nephritis	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus		2
HP:0000099	HP:0012578	Membranous nephropathy	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	135
HP:0000099	HP:0012578	Membranous nephropathy	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	KANK2 CL E G H	25959	29300	OMIM:617783	Nephrotic syndrome, type 16		1
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	KIRREL1 CL E G H	55243	15734	OMIM:619201	NEPHROTIC SYNDROME, TYPE 23; NPHS23
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	LAGE3 CL E G H	8270	26058	OMIM:301006	Galloway-Mowat syndrome 2, X-linked	.
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	LMNB2 CL E G H	84823	6638	OMIM:608709	Lipodystrophy, partial, acquired, susceptibility to	.	11
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	LMX1B CL E G H	4010	6654	OMIM:256020	NAIL-PATELLA-LIKE RENAL DISEASE		165
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	59
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	MAGI2 CL E G H	9863	18957	OMIM:617609	Nephrotic syndrome, type 15	.	59
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	241
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	69
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7		5
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	.	5
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	39
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	118
HP:0000099	HP:0012578	Membranous nephropathy	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0000099	HP:0033726	Lupus nephritis	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus		3
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	2
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0000099	HP:0012578	Membranous nephropathy	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0000099	HP:0033726	Lupus nephritis	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus		56
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	107
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	177
HP:0000099	HP:0012579	Minimal change glomerulonephritis	1	ZAP70 CL E G H	7535	12858	OMIM:617006	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2		46
HP:0000099	HP:0000793	Membranoproliferative glomerulonephritis	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000099	HP:0033729	Minimal mesangial lupus nephritis	2	CL E G H
HP:0000099	HP:0033728	Mesangial proliferative lupus nephritis	2	CL E G H
HP:0000099	HP:0033727	Diffuse lupus nephritis	2	CL E G H
HP:0000099	HP:0033732	Advanced sclerotic lupus nephritis	2	CL E G H
HP:0000099	HP:0033731	Focal lupus nephritis	2	CL E G H
HP:0000099	HP:0033730	Membranous lupus nephritis	2	CL E G H

Genes (74) :ACTN4 ALMS1 ANKFY1 ANLN APOL1 ARHGAP24 ARHGDIA C1QA C1QB C1QC C4A CASP10 CD2AP CD81 CFHR5 CFI COL4A3 COL7A1 COPA COQ8B CRB2 CTLA4 DAAM2 DGKE DNASE1 DNASE1L3 DNASE2 EMP2 FAS FASLG FCGR2A FCGR2B FOXP3 GAPVD1 INF2 JAK1 KANK2 KIRREL1 LAGE3 LMNB2 LMX1B MAGI2 MME MMP1 MYO1E NPHS1 NPHS2 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 PAX2 PGM3 PLCE1 PRKCD PTPN22 PTPRO RASGRP1 SLC37A4 SLC7A7 SMARCAL1 SOCS1 SOX18 TBC1D8B TREX1 TRIM8 TRPC6 WDR19 WT1 ZAP70 ZNFX1

Diseases (41) :ORPHA:656 ORPHA:64 OMIM:613652 OMIM:614380 ORPHA:3261 OMIM:613496 OMIM:614809 OMIM:610984 OMIM:104200 ORPHA:79408 OMIM:616414 OMIM:152700 OMIM:615008 OMIM:614420 OMIM:619858 OMIM:615861 ORPHA:37042 OMIM:304790 OMIM:618999 OMIM:617783 OMIM:619201 OMIM:301006 OMIM:608709 OMIM:161200 OMIM:256020 OMIM:617609 ORPHA:69063 OMIM:618348 OMIM:616730 OMIM:615816 ORPHA:443811 OMIM:615559 OMIM:619525 ORPHA:470 ORPHA:1830 OMIM:619375 OMIM:137940 OMIM:619428 OMIM:614376 OMIM:617006 OMIM:619644

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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