Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IDIOPATHIC NEPHROTIC SYNDROME	C3496337	NPHS2	Causal	—	Disgenet	Nephrin family interactions
NEPHROTIC SYNDROME	C0027726 EFO_0004255 MESH:D009404	AGXT	Causal	—	Disgenet	Alanine, aspartate and glutamate metabolism Glycine, serine and threonine metabolism Glyoxylate and dicarboxylate metabolism +6 more
		AVIL	Causal	—	Disgenet	—
		CLCN5	Causal	—	Disgenet	Neutrophil extracellular trap formation Stimuli-sensing channels
		COG1	Causal	—	Disgenet	COPI-mediated anterograde transport Intra-Golgi traffic Retrograde transport at the Trans-Golgi-Network
		COL4A3	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COL4A4	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COL4A5	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +20 more
		COQ2	Causal	—	Disgenet	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors
		CTNS	Causal	—	Disgenet	Lysosome Transport of inorganic cations/anions and amino acids/oligopeptides Miscellaneous transport and binding events
		DGKE	Causal	—	Disgenet	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		FAT1	Causal	—	Disgenet	—
		FN1	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +33 more
		GLA	Causal	—	Disgenet	Galactose metabolism Glycerolipid metabolism Sphingolipid metabolism +5 more
		INF2	Causal	—	Disgenet	Cytoskeleton in muscle cells
		ITGA3	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +13 more
		LAMA5	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		LAMB2	Causal	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +9 more
		LMX1B	Causal	—	Disgenet	—
		MYO1E	Causal	—	Disgenet	Motor proteins Pathogenic Escherichia coli infection
		NPHS1	Causal	32554042 37120605	Disgenet, GWAS catalog	Nephrin family interactions
		NPHS2	Causal	16898497	CTD, Disgenet	Nephrin family interactions
		NUP93	Causal	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
		OSGEP	Causal	—	Disgenet	—
		PAX2	Causal	—	Disgenet	—
		PLCE1	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Ras signaling pathway +9 more
		RUNX2	Causal	—	Disgenet	Parathyroid hormone synthesis, secretion and action Transcriptional misregulation in cancer Transcriptional regulation by RUNX2 +6 more
		SGPL1	Causal	—	Disgenet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		SMARCAL1	Causal	—	Disgenet	—
		TRPC6	Causal	—	Disgenet	cGMP-PKG signaling pathway Axon guidance Effects of PIP2 hydrolysis +2 more
		TTC21B	Causal	—	Disgenet	Hedgehog 'off' state Intraflagellar transport
		WDR73	Causal	—	Disgenet	—
NEPHROTIC SYNDROME 14	MONDO:0033203	SGPL1	Causal	19119317 28165339 28165343 28181337 29501407 32855188	ClinGen, ClinVar, Orphanet	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
NEPHROTIC SYNDROME 15	MONDO:0033262	MAGI2	Causal	25108225 25271328 27932480 29773874	ClinVar, GWAS catalog	Rap1 signaling pathway PI3K-Akt signaling pathway
NEPHROTIC SYNDROME 16	MONDO:0033280	KANK2	Causal	25961457	ClinVar	—
NEPHROTIC SYNDROME, IIA 26	MONDO:0031061	LAMA5	Causal	201750 280460 29534211 3515625	CTD, ClinVar	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
NEPHROTIC SYNDROME, TYPE 10	615861 C4014507 MONDO:0014373 OMIM:615861	EMP2	Causal	24814193 2512529 282788 31508419	CTD, ClinVar, Disgenet, HPO, Orphanet	Focal adhesion
NEPHROTIC SYNDROME, TYPE 11	616730 C4225228 MONDO:0014752 OMIM:616730	NUP107	Causal	250606 251334 27190346 30179222	CTD, ClinVar, Disgenet, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +32 more
NEPHROTIC SYNDROME, TYPE 12	616892 C4225166 MONDO:0014817 OMIM:616892	NUP93	Causal	26878725 31015583 31315584 33578576 35211795 9348540	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
NEPHROTIC SYNDROME, TYPE 13	616893 C4225165 MONDO:0014818 OMIM:616893	NUP205	Causal	26878725 29127259	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
NEPHROTIC SYNDROME, TYPE 17	618176 C4748545 MONDO:0032580	NUP85	Causal	30179222	ClinVar, Disgenet, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +32 more
NEPHROTIC SYNDROME, TYPE 18	618177 C4748549 MONDO:0032581	NUP133	Causal	11564755 30179222 30427554 30894603 37041680	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +32 more
NEPHROTIC SYNDROME, TYPE 19	618178 C4748552 MONDO:0032582	NUP160	Causal	30179222 30910934	CTD, ClinGen, ClinVar, Disgenet, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +32 more
NEPHROTIC SYNDROME, TYPE 2	600995 MONDO:0010974	NPHS2	Causal	10742096 14570703 17371932 23242530 29049388	ClinVar, GWAS catalog, HPO	Nephrin family interactions
NEPHROTIC SYNDROME, TYPE 20	301028 C5193011 MONDO:0026726	TBC1D8B	Causal	30661770 31732614	ClinGen, ClinVar, Disgenet, HPO, Orphanet	Golgi Associated Vesicle Biogenesis
NEPHROTIC SYNDROME, TYPE 21	618594 C5231498 MONDO:0032826	AVIL	Causal	29058690	CTD, ClinGen, ClinVar, Disgenet, HPO	—
NEPHROTIC SYNDROME, TYPE 22	619155 C5436909 MONDO:0030895	NOS1AP	Causal	33523862	ClinVar, Disgenet, HPO	Circadian entrainment
NEPHROTIC SYNDROME, TYPE 23	619201 C5543092 MONDO:0030962	KIRREL1	Causal	16968734 31472902	ClinVar, Disgenet, HPO	Nephrin family interactions
NEPHROTIC SYNDROME, TYPE 24	619263 C5543267 MONDO:0031008	DAAM2	Causal	33232676	ClinVar, Disgenet, GWAS catalog, HPO	Wnt signaling pathway Cytoskeleton in muscle cells
NEPHROTIC SYNDROME, TYPE 3	610725 C1853124 MONDO:0012546 OMIM:610725	PLCE1	Causal	20591883 17086182	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Inositol phosphate metabolism Metabolic pathways Ras signaling pathway +9 more
NEPHROTIC SYNDROME, TYPE 4	256370 C3151568 MONDO:0009733 OMIM:256370	WT1	Causal	—	CTD, ClinVar, Disgenet, HPO	Transcriptional misregulation in cancer
NEPHROTIC SYNDROME, TYPE 6	614196 C3280100 MONDO:0013619 OMIM:614196	PTPRO	Causal	11086029 21722858 280832 282646 28780565	CTD, ClinVar, 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	Neurotrophin signaling pathway Vasopressin-regulated water reabsorption Axonal growth inhibition (RHOA activation) +2 more
NEPHROTIC SYNDROME, TYPE 9	615573 C3809965 MONDO:0014257 OMIM:615573	COQ8B	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—

Nephrotic syndrome

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