Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IMMUNODEFICIENCY 40	616433 C4225328 OMIM:616433	DOCK2	Unknown	—	CTD, Disgenet, HPO	Chemokine signaling pathway Nef and signal transduction Neutrophil degranulation +1 more
IMMUNODEFICIENCY 40	616433 C4225328 OMIM:616433	INSYN2B	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	606367	IL2RA	Unknown	—	HPO	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Endocytosis +12 more
IMMUNODEFICIENCY 42	616622 OMIM:616622	RORC	Unknown	—	CTD, HPO	Th17 cell differentiation Circadian rhythm Inflammatory bowel disease +2 more
IMMUNODEFICIENCY 43	241600	B2M	Unknown	—	HPO	Antigen processing and presentation Human cytomegalovirus infection Human T-cell leukemia virus 1 infection +14 more
IMMUNODEFICIENCY 44	C4225260 616636 OMIM:616636	IFNAR2	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway Necroptosis +16 more
		IFNAR2-IL10RB	Unknown	—	Disgenet	—
		STAT2	Unknown	—	CTD, Disgenet, HPO	Chemokine signaling pathway Necroptosis Osteoclast differentiation +17 more
IMMUNODEFICIENCY 45	C4225252	IFNAR2-IL10RB	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 46	616740 OMIM:616740	TFRC	Unknown	—	CTD, HPO	Virion - Lassa virus and SFTS virus HIF-1 signaling pathway Endocytosis +8 more
IMMUNODEFICIENCY 48	269840 C5575025 OMIM:269840	ZAP70	Unknown	—	CTD, Disgenet, HPO	Ras signaling pathway NF-kappa B signaling pathway Natural killer cell mediated cytotoxicity +8 more
IMMUNODEFICIENCY 49, SEVERE COMBINED	617237 OMIM:617237	BCL11B	Unknown	—	CTD, HPO	Transcriptional misregulation in cancer
IMMUNODEFICIENCY 50	300988 OMIM:300988	MSN	Unknown	—	CTD, HPO	Tight junction Leukocyte transendothelial migration Regulation of actin cytoskeleton +4 more
IMMUNODEFICIENCY 52	617514 C4479588	LAT	Unknown	—	Disgenet, HPO	Ras signaling pathway Rap1 signaling pathway NF-kappa B signaling pathway +15 more
IMMUNODEFICIENCY 54	609981 OMIM:609981	MCM4	Unknown	—	CTD, HPO	DNA replication Cell cycle Activation of ATR in response to replication stress +4 more
IMMUNODEFICIENCY 55	617827	GINS1	Unknown	—	HPO	Unwinding of DNA
IMMUNODEFICIENCY 56	615207 C3554687 OMIM:615207	IL21R	Unknown	—	CTD, Disgenet, HPO	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +2 more
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION	618108 C4748212	RIPK1	Unknown	—	Disgenet, HPO	NF-kappa B signaling pathway Apoptosis Necroptosis +32 more
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION	618108 C4748212	SKIC2	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 58	618131 C4748304	CARMIL2	Unknown	29479355	Disgenet, HPO	—
IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA	233600	HYOU1	Unknown	—	HPO	Protein processing in endoplasmic reticulum Scavenging by Class F Receptors XBP1(S) activates chaperone genes
IMMUNODEFICIENCY 60 AND AUTOIMMUNITY	618394 C5193072	BACH2	Unknown	—	Disgenet, HPO	—
IMMUNODEFICIENCY 61	300310 MONDO:0010296	SH3KBP1	Unknown	21708930 29636373	ClinGen, ClinVar, HPO, Orphanet	Endocytosis EGFR downregulation Negative regulation of MET activity +4 more
IMMUNODEFICIENCY 62	C5193109 618459 MONDO:0032763	ANK1	Unknown	—	Disgenet	Proteoglycans in cancer Interaction between L1 and Ankyrins Neurofascin interactions +1 more
		ARHGEF1	Unknown	25984793 29130930 30521495	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Vascular smooth muscle contraction Platelet activation Regulation of actin cytoskeleton +10 more
		FANCI	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION	618534 C5231402	RASGRP1	Unknown	29155103 30030704 29282224 28822832 27776107	Disgenet, HPO	MAPK signaling pathway Ras signaling pathway Platelet activation +7 more
IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS	618648 C5231441 MONDO:0032848	IRF9	Unknown	30143481	ClinVar, Disgenet, GWAS catalog, HPO	Necroptosis Osteoclast differentiation Toll-like receptor signaling pathway +14 more
IMMUNODEFICIENCY 68	612260	MYD88	Unknown	—	HPO	MAPK signaling pathway NF-kappa B signaling pathway Toll-like receptor signaling pathway +39 more
IMMUNODEFICIENCY 7	C3809332	TRA	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA	617718 C4540232	ARPC1B	Unknown	—	Disgenet, HPO	Endocytosis Tight junction Fc gamma R-mediated phagocytosis +10 more
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION	C5436540 618982	NCKAP1	Unknown	—	Disgenet	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
	C5436540 618982	NCKAP1L	Unknown	32647003 32766723	Disgenet, HPO	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +5 more
IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS	608203	RAC2	Unknown	—	HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +34 more
IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION	619126 C5436860	TET2	Unknown	—	Disgenet, HPO	—
IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION	615401 OMIM:615401	CORO1A	Unknown	—	CTD, HPO	Phagosome Tuberculosis Prevention of phagosomal-lysosomal fusion
IMMUNODEFICIENCY 81	C5543540	C5ORF58	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS	C2751803 MONDO:0800187	TLR3	Unknown	17872438 21911422 25339207 26513235 28368532 31217193 32936395	ClinVar, Disgenet	Necroptosis Toll-like receptor signaling pathway Hepatitis C +17 more
IMMUNODEFICIENCY 9	612782	ORAI1	Unknown	—	HPO	Calcium signaling pathway cAMP signaling pathway Platelet activation +5 more
IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION	613759 C3151062 OMIM:613759	FADD	Unknown	—	CTD, Disgenet, HPO	Platinum drug resistance Apoptosis Apoptosis - multiple species +36 more
IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED	C5676883	FASLG	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS	619846 C5676971 MONDO:0030798	CTNNBL1	Unknown	32484799	ClinVar, Disgenet, GWAS catalog, HPO	Spliceosome mRNA Splicing - Major Pathway
immunodeficiency disease		IL21R	Unknown	—	ClinGen	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +2 more
immunodeficiency disease		NFAT5	Unknown	—	ClinGen	—

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Immunodeficiency

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