Common variable immunodeficiency | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COMMON VARIABLE IMMUNODEFICIENCY	C0009447 MONDO_0015517 MESH:D017074 MONDO:0015517	PSD	Unknown	—	Disgenet	Endocytosis
		RSBN1	Unknown	26301688	GWAS catalog	—
		SBK1	Unknown	26301688	GWAS catalog	—
		SEC61A1	Unknown	—	Disgenet	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more
		SLC25A28	Unknown	26301688	GWAS catalog	—
		SLC9A4	Unknown	26301688	GWAS catalog	Gastric acid secretion Sodium/Proton exchangers
		SMAD3	Unknown	26301688	GWAS catalog	FoxO signaling pathway Cell cycle Endocytosis +34 more
		STMN3	Unknown	26301688	GWAS catalog	—
		SUOX	Unknown	26301688	GWAS catalog	Sulfur metabolism Metabolic pathways Sulfide oxidation to sulfate
		TENM3	Unknown	26301688	GWAS catalog	—
		TNFRSF13C	Unknown	—	CTD, Disgenet, GenCC	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Intestinal immune network for IgA production +4 more
		TNFSF12	Unknown	12411489 16325585 23493554 33859323 9405449 9560343	ClinGen, Disgenet, GWAS catalog	Cytokine-cytokine receptor interaction TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
		TNFSF12-TNFSF13	Unknown	—	Disgenet	TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
		TNFSF13	Unknown	10973284 18180376 32298700	ClinGen, Disgenet	Cytokine-cytokine receptor interaction Intestinal immune network for IgA production Rheumatoid arthritis +2 more
		TNFSF15	Unknown	26301688	GWAS catalog	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
		TTC33	Unknown	26301688	GWAS catalog	—
		TTC7A	Unknown	—	Disgenet	—
		ZMIZ1	Unknown	26301688	GWAS catalog	—
		ZPBP2	Unknown	26301688	GWAS catalog	—
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO HOMOZYGOUS TACI DEFICIENCY	696907	TNFRSF13B	Unknown	16007086	Orphanet	Cytokine-cytokine receptor interaction Intestinal immune network for IgA production Primary immunodeficiency +1 more
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO IRF2BP2 DEFICIENCY	696904	IRF2BP2	Unknown	27016798	Orphanet	—
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO SEC61A1 DEFICIENCY	697417	SEC61A1	Unknown	28782633	Orphanet	Protein export Protein processing in endoplasmic reticulum Phagosome +1 more
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO TWEAK DEFICIENCY	696931	TNFSF12	Unknown	23493554	Orphanet, ClinGen	Cytokine-cytokine receptor interaction TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway

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