Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IDIOPATHIC MULTIDRUG-RESISTANT NEPHROTIC SYNDROME	C5681293 MONDO:0035459	DAAM2	Unknown	33232676 36646731 38860410	ClinGen, Disgenet, GWAS catalog	Wnt signaling pathway Cytoskeleton in muscle cells
IDIOPATHIC NEPHROTIC SYNDROME	C3496337	NPHS2	Causal	—	Disgenet	Nephrin family interactions
		AXDND1	Unknown	—	Disgenet	—
		NUP205	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
		NUP93	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +26 more
		PLA2G7	Unknown	—	Disgenet	Ether lipid metabolism Metabolic pathways Synthesis, secretion, and deacylation of Ghrelin
		PLCE1	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Ras signaling pathway +9 more
		TRPC6	Unknown	—	Disgenet	cGMP-PKG signaling pathway Axon guidance Effects of PIP2 hydrolysis +2 more
		XPO5	Unknown	—	Disgenet	Nucleocytoplasmic transport MicroRNA (miRNA) biogenesis
NEPHROSIS	C0027720 MESH:D009401	AGT	Unknown	2046802	CTD, Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		ALB	Unknown	3301049	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		CYP3A43	Unknown	—	Disgenet	Chemical carcinogenesis - DNA adducts Miscellaneous substrates Xenobiotics
		CYP3A5	Unknown	—	Disgenet	Steroid hormone biosynthesis Retinol metabolism Metabolism of xenobiotics by cytochrome P450 +5 more
		DDIT3	Unknown	16400006	CTD, Disgenet	MAPK signaling pathway Protein processing in endoplasmic reticulum Apoptosis +9 more
		DES	Unknown	16418842	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		EDN1	Unknown	7756592	CTD, Disgenet	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
		EDNRB	Unknown	7756592	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +5 more
		F2	Unknown	18541230	CTD, Disgenet	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +17 more
		GATA3	Unknown	—	Disgenet	Th1 and Th2 cell differentiation Th17 cell differentiation Parathyroid hormone synthesis, secretion and action +6 more
		HPSE	Unknown	16899518	CTD, Disgenet	Glycosaminoglycan degradation Metabolic pathways Proteoglycans in cancer +2 more
		ICAM1	Unknown	12845231	CTD, Disgenet	NF-kappa B signaling pathway Cell adhesion molecules Natural killer cell mediated cytotoxicity +19 more
		ITGB2	Unknown	12845231	CTD, Disgenet	Rap1 signaling pathway Phagosome Hippo signaling pathway +22 more
		NES	Unknown	16418842	CTD, Disgenet	—
		NPHS2	Unknown	15684566	CTD, Disgenet	Nephrin family interactions
		REN	Unknown	2046802 6358456	CTD, Disgenet	Renin-angiotensin system Renin secretion Diabetic cardiomyopathy +1 more
		SOD1	Unknown	2273594	CTD, Disgenet	Peroxisome Longevity regulating pathway - multiple species Parkinson disease +8 more
		VIM	Unknown	16418842	CTD, Disgenet	Cytoskeleton in muscle cells Epstein-Barr virus infection MicroRNAs in cancer +4 more
NEPHROSIS, CONGENITAL	C3501848 MESH:C535761	DAAM2	Unknown	—	Disgenet	Wnt signaling pathway Cytoskeleton in muscle cells
		KIRREL2	Unknown	—	Disgenet	Nephrin family interactions
		LAMA5	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
		NPHS1	Unknown	10792613 11012881	CTD, Disgenet	Nephrin family interactions
		ZNF91	Unknown	—	Disgenet	—
NEPHROSIS, LIPOID	MESH:D009402	NPHS1	Unknown	18256598	CTD	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	—
		PLCE1	Causal	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Ras signaling pathway +9 more
		TRPC6	Causal	—	Disgenet	cGMP-PKG signaling pathway Axon guidance Effects of PIP2 hydrolysis +2 more
		ALB	Unknown	1556257 17178036	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		AXDND1	Unknown	—	Disgenet	—
		COQ8B	Unknown	—	Disgenet	—
		EDN1	Unknown	34783119	CTD, Disgenet	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction +11 more
		KIRREL2	Unknown	—	Disgenet	Nephrin family interactions
		REN	Unknown	—	Disgenet	Renin-angiotensin system Renin secretion Diabetic cardiomyopathy +1 more
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 1	256300	NPHS1	Unknown	10577936 10652016 11854170 17290294 9660941	HPO	Nephrin family interactions
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 2	600995 MONDO:0010974	NPHS2	Causal	10742096 14570703 17371932 23242530 29049388	ClinVar, GWAS catalog, HPO	Nephrin family interactions
NEPHROTIC SYNDROME, TYPE 21	618594 C5231498 MONDO:0032826	AVIL	Causal	29058690	CTD, ClinGen, ClinVar, Disgenet, HPO	—
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 26	620049 C5774221	LAMA5	Unknown	29534211	Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +8 more
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 5, WITH OR WITHOUT OCULAR ABNORMALITIES	614199 C3280113 OMIM:614199	LAMB2	Unknown	—	CTD, Disgenet, HPO	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +9 more
NEPHROTIC SYNDROME, TYPE 7	615008 C3554330 OMIM:615008	DGKE	Unknown	—	CTD, Disgenet, HPO	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
NEPHROTIC SYNDROME, TYPE 9	615573 C3809965 MONDO:0014257 OMIM:615573	COQ8B	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—

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Nephrotic syndrome

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