Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
COMMON VARIABLE IMMUNODEFICIENCY	C0009447 MESH:D017074 MONDO:0015517 MONDO_0015517	BTK	Causal	—	Disgenet	NF-kappa B signaling pathway Osteoclast differentiation Platelet activation +17 more
		CD40LG	Causal	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +14 more
		NFKB1	Causal	26279205	CTD, Disgenet, GWAS catalog	Antifolate resistance MAPK signaling pathway Ras signaling pathway +96 more
		RAG2	Causal	—	Disgenet	FoxO signaling pathway Primary immunodeficiency MAPK6/MAPK4 signaling
		TNFRSF13B	Causal	16007086	CTD, Disgenet, GWAS catalog	Cytokine-cytokine receptor interaction Intestinal immune network for IgA production Primary immunodeficiency +1 more
		ADCY7	Unknown	26301688	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +58 more
		ADGRL2	Unknown	26301688	GWAS catalog	—
		ANKRD55	Unknown	26301688	GWAS catalog	—
		ATG16L1	Unknown	26301688	GWAS catalog	Autophagy - other Autophagy - animal NOD-like receptor signaling pathway +2 more
		ATXN2L	Unknown	26301688	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		C1ORF141	Unknown	26301688	GWAS catalog	—
		CARD9	Unknown	26301688	GWAS catalog	NOD-like receptor signaling pathway C-type lectin receptor signaling pathway Tuberculosis +2 more
		CD19	Unknown	16672701	CTD, Disgenet, GenCC	PI3K-Akt signaling pathway Hematopoietic cell lineage B cell receptor signaling pathway +8 more
		CD81	Unknown	21970952	CTD, Disgenet, GWAS catalog	Virion - Hepatitis viruses B cell receptor signaling pathway Malaria +3 more
		CLEC16A	Unknown	25891430	GWAS catalog	—
		CR2	Unknown	22035880	CTD, Disgenet, GWAS catalog	Complement and coagulation cascades Hematopoietic cell lineage B cell receptor signaling pathway +2 more
		CRB1	Unknown	26301688	GWAS catalog	Hippo signaling pathway
		CTNNBL1	Unknown	18722174 23343763 32484799	ClinGen, Disgenet	Spliceosome mRNA Splicing - Major Pathway
		CYTL1	Unknown	26301688	GWAS catalog	—
		DAG1	Unknown	26301688	GWAS catalog	Virion - Lassa virus and SFTS virus ECM-receptor interaction Cytoskeleton in muscle cells +10 more
		DCLRE1C	Unknown	—	Disgenet	Non-homologous end-joining Primary immunodeficiency Nonhomologous End-Joining (NHEJ)
		DCTD	Unknown	26301688	GWAS catalog	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +1 more
		EOMES	Unknown	25891430	GWAS catalog	—
		ERAP2	Unknown	26301688	GWAS catalog	Antigen Presentation: Folding, assembly and peptide loading of class I MHC
		FNBP1	Unknown	26301688	GWAS catalog	Shigellosis Clathrin-mediated endocytosis
		FUT2	Unknown	26301688	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +2 more
		GPR35	Unknown	26301688	GWAS catalog	Neuroactive ligand-receptor interaction Class A/1 (Rhodopsin-like receptors)
		GSDMB	Unknown	26301688	GWAS catalog	—
		HLA-DQB1	Unknown	25891430	Disgenet, GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		ICOS	Unknown	11343121 11343122 11343123 11956294 12577056 15507387 17014982 19380800 25678089 26399252 31283790 31858365	CTD, ClinGen, Disgenet, GWAS catalog	Cell adhesion molecules T cell receptor signaling pathway Intestinal immune network for IgA production +5 more
		IGF2	Unknown	26301688	GWAS catalog	MAPK signaling pathway Ras signaling pathway Hormone signaling +9 more
		IKBKG	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
		IKZF1	Unknown	—	CTD, Disgenet	—
		IL10	Unknown	26301688	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor FoxO signaling pathway +25 more
		IL18RAP	Unknown	26301688	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Inflammatory bowel disease +1 more
		IL21	Unknown	19721453 24746753 27545302	CTD, Disgenet, GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +2 more
		IL21R	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +2 more
		IL23R	Unknown	26301688	GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +4 more
		IL2RA	Unknown	26301688	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Endocytosis +12 more
		INS-IGF2	Unknown	26301688	GWAS catalog	—
		IRF1	Unknown	26301688	GWAS catalog	C-type lectin receptor signaling pathway TNF signaling pathway Prolactin signaling pathway +5 more
		JAK2	Unknown	26301688	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		KEAP1	Unknown	26301688	GWAS catalog	Ubiquitin mediated proteolysis Parkinson disease Pathways in cancer +6 more
		LRRK2	Unknown	26301688	GWAS catalog	Parkinson disease Pathways of neurodegeneration - multiple diseases PTK6 promotes HIF1A stabilization
		LURAP1L	Unknown	26301688	GWAS catalog	—
		MBL2	Unknown	—	Disgenet	Phagosome Complement and coagulation cascades Staphylococcus aureus infection +3 more
		MS4A1	Unknown	20038800 21970952	CTD, Disgenet, GenCC	Hematopoietic cell lineage
		MSH5	Unknown	25891430	GWAS catalog	—
		NFKB2	Unknown	24888602 25237204	CTD, Disgenet	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +19 more
		NKD1	Unknown	26301688	GWAS catalog	Wnt signaling pathway Hippo signaling pathway
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD19/CD81 DEFICIENCY	696881	CD19	Unknown	21330302	Orphanet	PI3K-Akt signaling pathway Hematopoietic cell lineage B cell receptor signaling pathway +8 more
	696881	CD81	Unknown	21970952	Orphanet	Virion - Hepatitis viruses B cell receptor signaling pathway Malaria +3 more
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD21 DEFICIENCY	696894	CR2	Unknown	22035880 38817346	Orphanet	Complement and coagulation cascades Hematopoietic cell lineage B cell receptor signaling pathway +2 more
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 IKAROS FUNCTIONAL HAPLOINSUFFICIENCY	317473	IKZF1	Unknown	21548011 26981933	Orphanet	—

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Common variable immunodeficiency

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