Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
NEPHROTIC SYNDROME	EFO_0004255 C0027726 MESH:D009404 MONDO:0005377	SLC9C2	Unknown	38560502	GWAS catalog
		SOD2	Unknown	9152291	CTD Disgenet
		SYNPO	Unknown	—	Disgenet
		TBC1D8B	Unknown	—	Disgenet
		TF	Unknown	17178036	CTD Disgenet
		TGFB1	Unknown	10515446 1281619 8023968	CTD Disgenet
		TNFSF15	Unknown	32554042 37120605	GWAS catalog
		TNFSF4	Unknown	37120605	GWAS catalog
		TNS2	Unknown	29773874	Disgenet GWAS catalog
		TNXB	Unknown	34594039	GWAS catalog
		TPRKB	Unknown	—	Disgenet
		TRAPPC3L	Unknown	31263063 37120605	GWAS catalog
		TSC22D2	Unknown	31263063	GWAS catalog
		WT1	Unknown	—	Disgenet
		ZNF345	Unknown	31263063	GWAS catalog
		ZNF469	Unknown	39024449	GWAS catalog
NEPHROTIC SYNDROME 14	MONDO:0033203	SGPL1	Causal	19119317 28165339 28165343 28181337 29501407 32855188	ClinGen ClinVar Orphanet
NEPHROTIC SYNDROME 15	MONDO:0033262	MAGI2	Causal	25108225 25271328 27932480 29773874	ClinVar GWAS catalog
NEPHROTIC SYNDROME 16	MONDO:0033280	KANK2	Causal	25961457	ClinVar
NEPHROTIC SYNDROME, IIA 26	MONDO:0031061	LAMA5	Causal	201750 280460 29534211 3515625	CTD ClinVar
NEPHROTIC SYNDROME, TYPE 1	256300	NPHS1	Unknown	—	HPO
NEPHROTIC SYNDROME, TYPE 10	615861 C4014507 MONDO:0014373 OMIM:615861	EMP2	Causal	24814193 2512529 282788 31508419	CTD ClinVar Disgenet HPO Orphanet
NEPHROTIC SYNDROME, TYPE 11	616730 C4225228 MONDO:0014752 OMIM:616730	NUP107	Causal	250606 251334 27190346 30179222	CTD ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 12	616892 C4225166 MONDO:0014817 OMIM:616892	NUP93	Causal	26878725 31015583 31315584 33578576 35211795 9348540	CTD ClinGen ClinVar Disgenet GenCC HPO
NEPHROTIC SYNDROME, TYPE 12	616892 C4225166 MONDO:0014817 OMIM:616892	BMP7	Unknown	—	Disgenet
NEPHROTIC SYNDROME, TYPE 13	616893 C4225165 MONDO:0014818 OMIM:616893	NUP205	Causal	26878725 29127259	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 15	617609 C4539896	MAGI2	Unknown	—	Disgenet HPO
NEPHROTIC SYNDROME, TYPE 16	617783 C4540453	KANK2	Unknown	—	Disgenet HPO
NEPHROTIC SYNDROME, TYPE 17	618176 C4748545 MONDO:0032580	NUP85	Causal	30179222	ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 17	618176 C4748545 MONDO:0032580	GGA3	Unknown	—	Disgenet
NEPHROTIC SYNDROME, TYPE 18	618177 C4748549 MONDO:0032581	NUP133	Causal	11564755 30179222 30427554 30894603 37041680	ClinGen ClinVar Disgenet GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 19	618178 C4748552 MONDO:0032582	NUP160	Causal	30179222 30910934	CTD ClinGen ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 2	600995 MONDO:0010974	NPHS2	Causal	10742096 14570703 17371932 23242530 29049388	ClinVar GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 20	301028 C5193011 MONDO:0026726	TBC1D8B	Causal	30661770 31732614	ClinGen ClinVar Disgenet HPO Orphanet
NEPHROTIC SYNDROME, TYPE 21	618594 C5231498 MONDO:0032826	AVIL	Causal	29058690	CTD ClinGen ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 21	618594 C5231498 MONDO:0032826	TSFM	Unknown	—	Disgenet
NEPHROTIC SYNDROME, TYPE 22	619155 C5436909 MONDO:0030895	NOS1AP	Causal	33523862	ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 23	619201 C5543092 MONDO:0030962	KIRREL1	Causal	16968734 31472902	ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 24	619263 C5543267 MONDO:0031008	DAAM2	Causal	33232676	ClinVar Disgenet GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 26	620049 C5774221	LAMA5	Unknown	—	Disgenet HPO
NEPHROTIC SYNDROME, TYPE 3	610725 C1853124 MONDO:0012546 OMIM:610725	PLCE1	Causal	20591883 17086182	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 3	610725 C1853124 MONDO:0012546 OMIM:610725	NOC3L	Unknown	—	Disgenet
NEPHROTIC SYNDROME, TYPE 4	256370 C3151568 MONDO:0009733 OMIM:256370	WT1	Causal	—	CTD ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES	614199 C3280113 OMIM:614199	LAMB2	Unknown	—	CTD Disgenet HPO
NEPHROTIC SYNDROME, TYPE 6	614196 C3280100 MONDO:0013619 OMIM:614196	PTPRO	Causal	11086029 21722858 280832 282646 28780565	CTD ClinVar Disgenet HPO
NEPHROTIC SYNDROME, TYPE 7	615008 C3554330 OMIM:615008	DGKE	Unknown	—	CTD Disgenet HPO
NEPHROTIC SYNDROME, TYPE 8	615244 C3808953 MONDO:0014099 OMIM:615244	ARHGDIA	Causal	10498891 19029984 23434736 23867502 251064	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
NEPHROTIC SYNDROME, TYPE 9	615573 C3809965 MONDO:0014257 OMIM:615573	COQ8B	Causal	—	CTD ClinVar Disgenet GenCC HPO

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Nephrotic syndrome