Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IMMUNODEFICIENCY 10	612783	STIM1	Unknown	—	HPO	Calcium signaling pathway Platelet activation Ion homeostasis +1 more
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA	618042 C4747984	OAS1	Unknown	—	Disgenet, HPO	NOD-like receptor signaling pathway Hepatitis C Measles +7 more
IMMUNODEFICIENCY 101	619872 C5676983 MONDO:0030813	POLR3F	Unknown	30211253	ClinVar, Disgenet, GWAS catalog, HPO	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
IMMUNODEFICIENCY 102	301082 C5676886 MONDO:0024781	SASH3	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
IMMUNODEFICIENCY 103, SUSCEPTIBILITY TO FUNGAL INFECTIONS	212050 OMIM:212050	CARD9	Unknown	—	CTD, HPO	NOD-like receptor signaling pathway C-type lectin receptor signaling pathway Tuberculosis +2 more
IMMUNODEFICIENCY 104	C5676890 MONDO:0012163	IL7R	Causal	—	ClinGen, ClinVar, Disgenet, GenCC	Cytokine-cytokine receptor interaction FoxO signaling pathway PI3K-Akt signaling pathway +7 more
		PTPRC	Causal	10700239 11145714 1380033 22689986 22724066 2550143 26915675 28735895 7428806 8334701 8428589 8666928 8943569	ClinGen, Disgenet, GWAS catalog	Cell adhesion molecules T cell receptor signaling pathway Fc gamma R-mediated phagocytosis +5 more
		RAG2	Unknown	—	Disgenet	FoxO signaling pathway Primary immunodeficiency MAPK6/MAPK4 signaling
IMMUNODEFICIENCY 104, SEVERE COMBINED	608971	IL7R	Unknown	—	HPO	Cytokine-cytokine receptor interaction FoxO signaling pathway PI3K-Akt signaling pathway +7 more
IMMUNODEFICIENCY 105	C5677005 MONDO:0800104	PTPRC	Causal	—	ClinVar, Disgenet	Cell adhesion molecules T cell receptor signaling pathway Fc gamma R-mediated phagocytosis +5 more
IMMUNODEFICIENCY 105, SEVERE COMBINED	619924	PTPRC	Unknown	—	HPO	Cell adhesion molecules T cell receptor signaling pathway Fc gamma R-mediated phagocytosis +5 more
IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS	619935 C5677009 MONDO:0030970	IFNAR1	Causal	2153461 31270247 32960813 32972995 33252644 35091979 35442418 7479980	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway Necroptosis +17 more
IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION	C5774192 MONDO:0031030	OTULIN	Causal	—	ClinVar, Disgenet, GenCC	Regulation of TNFR1 signaling Synthesis of active ubiquitin: roles of E1 and E2 enzymes
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	260570	CEBPE	Unknown	—	HPO	Transcriptional misregulation in cancer Acute myeloid leukemia
IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION	620282 C5830346 MONDO:0859526	TNFRSF9	Unknown	12023342 12356681 19608748 29311309 30872117 31501153 31537641 37144041 9464265	CTD, ClinGen, ClinVar, Disgenet, HPO	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
IMMUNODEFICIENCY 11	C3554686	CARD11	Unknown	—	Disgenet	NF-kappa B signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway +4 more
IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION	C3553943 614868 OMIM:614868	MST1	Unknown	—	Disgenet	Calcium signaling pathway Signaling by MST1
IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION	C3553943 614868 OMIM:614868	STK4	Unknown	—	CTD, Disgenet, HPO	MAPK signaling pathway Ras signaling pathway FoxO signaling pathway +3 more
IMMUNODEFICIENCY 112	620449 C5830633 MONDO:0957535	MAP3K14	Causal	—	ClinVar, Disgenet, HPO	MAPK signaling pathway NF-kappa B signaling pathway Apoptosis +15 more
IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION	620565 C5882711 MONDO:0957920	ARPC5	Causal	—	ClinVar, Disgenet, GenCC, HPO	Endocytosis Tight junction Fc gamma R-mediated phagocytosis +12 more
IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE	620603 C5882719 MONDO:0957955	SLC19A1	Causal	11266438 24691418 32276275 36517554 36745868	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Antifolate resistance Vitamin digestion and absorption Folate transport and metabolism +1 more
IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION	620632 C5882724 MONDO:0957981	RNF31	Causal	26008899 30936877 32543267 33215740 38582895 39009172	ClinGen, ClinVar, Disgenet, HPO	Necroptosis NOD-like receptor signaling pathway Shigellosis +2 more
IMMUNODEFICIENCY 116	608957	CD8A	Unknown	—	HPO	Cell adhesion molecules Antigen processing and presentation Hematopoietic cell lineage +4 more
IMMUNODEFICIENCY 117	620668 C5882739 MONDO:0958011	IRF1	Causal	—	ClinVar, Disgenet, GenCC, HPO	C-type lectin receptor signaling pathway TNF signaling pathway Prolactin signaling pathway +5 more
IMMUNODEFICIENCY 118	301115 C5882665 MONDO:0958030	MCTS1	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
IMMUNODEFICIENCY 119	620825 C5935621 MONDO:0970993	ICOSLG	Unknown	—	ClinVar, Disgenet, GenCC, HPO	Cell adhesion molecules Intestinal immune network for IgA production Costimulation by the CD28 family
IMMUNODEFICIENCY 11A	615206 OMIM:615206	CARD11	Unknown	—	CTD, HPO	NF-kappa B signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway +4 more
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS	617638 C4539957 MONDO:0054697	CARD11	Causal	12154356 12356734 12818158 12867038 28628108 28826773 30170123 33202260 34341167	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	NF-kappa B signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway +4 more
IMMUNODEFICIENCY 12	615468 C3809583 OMIM:615468	MALT1	Unknown	—	CTD, Disgenet, HPO	NF-kappa B signaling pathway C-type lectin receptor signaling pathway T cell receptor signaling pathway +8 more
IMMUNODEFICIENCY 120	620836 C5935622 MONDO:0970994	POLD1	Unknown	—	ClinVar, Disgenet, GenCC, HPO	DNA replication Base excision repair Nucleotide excision repair +19 more
IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION	620807 C5935616 MONDO:0971001	PSMB10	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Proteasome Activation of NF-kappaB in B cells Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha +49 more
IMMUNODEFICIENCY 122	620869 C5935632 MONDO:0971151	POLD3	Unknown	27524497 37030525 38099988	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	DNA replication Base excision repair Nucleotide excision repair +19 more
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS	620901 C5935639 MONDO:0971177	CD28	Unknown	34214472	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cell adhesion molecules T cell receptor signaling pathway Intestinal immune network for IgA production +16 more
IMMUNODEFICIENCY 124, SEVERE COMBINED	611291	NHEJ1	Unknown	—	HPO	Non-homologous end-joining Nonhomologous End-Joining (NHEJ)
IMMUNODEFICIENCY 125	620926 MONDO:0975749	FLT3LG	Unknown	—	ClinVar, HPO	MAPK signaling pathway Ras signaling pathway PI3K-Akt signaling pathway +5 more
IMMUNODEFICIENCY 126	620931	PTCRA	Unknown	—	HPO	Notch signaling pathway Transcriptional misregulation in cancer
IMMUNODEFICIENCY 126, SUSCEPTIBILITY TO	MONDO:0975761	PTCRA	Unknown	—	ClinVar	Notch signaling pathway Transcriptional misregulation in cancer
IMMUNODEFICIENCY 127	620977 MONDO:0975832	TNF	Unknown	—	ClinVar, HPO	Antifolate resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +72 more
IMMUNODEFICIENCY 128	620983 MONDO:0975834	COPG1	Unknown	—	ClinVar, HPO	COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic
IMMUNODEFICIENCY 129	618307	RHOH	Unknown	—	HPO	Leukocyte transendothelial migration Salmonella infection Rho GTPase cycle
IMMUNODEFICIENCY 13	615518 C3809768	UNC119	Unknown	—	Disgenet, HPO	—
IMMUNODEFICIENCY 130 WITH HPV-RELATED VERRUCOSIS	618309	IL7	Unknown	—	HPO	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +3 more
IMMUNODEFICIENCY 131	621097 MONDO:0976229	IRF4	Causal	—	ClinVar, HPO	Th17 cell differentiation Interleukin-4 and Interleukin-13 signaling Interferon gamma signaling +1 more
IMMUNODEFICIENCY 132A	614849	TRAF3	Unknown	—	HPO	NF-kappa B signaling pathway Toll-like receptor signaling pathway NOD-like receptor signaling pathway +25 more
IMMUNODEFICIENCY 132B	621096 MONDO:0976228	TRAF3	Unknown	—	ClinVar, HPO	NF-kappa B signaling pathway Toll-like receptor signaling pathway NOD-like receptor signaling pathway +25 more
IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY	621254	ITPR3	Unknown	—	ClinVar	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +52 more
IMMUNODEFICIENCY 14	MONDO:0014222	PIK3CD	Causal	—	ClinGen, ClinVar, GenCC	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +114 more
IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT	615513 OMIM:615513	PIK3CD	Unknown	—	CTD, HPO	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +114 more
IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE	619281 C5543301 MONDO:0023655	PIK3CD	Causal	12130661 12235209 30040974 30336224 31073077 9235916	ClinGen, ClinVar, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +114 more
IMMUNODEFICIENCY 15A	618204 C4748694 MONDO:0032599	IKBKB	Causal	30337470 32554083	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Antifolate resistance MAPK signaling pathway Ras signaling pathway +79 more
IMMUNODEFICIENCY 15B	615592 C4747743 OMIM:615592	IKBKB	Unknown	—	CTD, Disgenet, HPO	Antifolate resistance MAPK signaling pathway Ras signaling pathway +79 more
IMMUNODEFICIENCY 16	615593 C3810053 OMIM:615593	TNFRSF4	Unknown	—	CTD, Disgenet, HPO	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
IMMUNODEFICIENCY 17	615607 C3810107 OMIM:615607	CD3G	Unknown	—	CTD, Disgenet, HPO	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +20 more
IMMUNODEFICIENCY 18	615615 C3810127 MONDO:0014278 OMIM:615615	CD3E	Causal	15546002 2410254 24515816 27807805 28597365 28916186 3012357 31589898 32016651 7588594 8490660 9485181 9843989 9885898	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +14 more
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT	C3810128	CD3E	Causal	—	Disgenet	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +14 more
IMMUNODEFICIENCY 19	C3810147 MONDO:0014280	CD3D	Causal	14602880 15546002 15729559 18853439 21926461 28916186 31461748 33628209 34249896 9135151	ClinGen, ClinVar, Disgenet, GWAS catalog	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +16 more
IMMUNODEFICIENCY 19, SEVERE COMBINED	615617 OMIM:615617	CD3D	Unknown	—	CTD, HPO	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +16 more
IMMUNODEFICIENCY 20	615707 C3810342 OMIM:615707	FCGR3A	Unknown	—	CTD, Disgenet, HPO	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
IMMUNODEFICIENCY 21	614172 OMIM:614172	GATA2	Unknown	—	CTD, HPO	RUNX1 regulates transcription of genes involved in differentiation of HSCs Factors involved in megakaryocyte development and platelet production
IMMUNODEFICIENCY 22	615758 C4014233 OMIM:615758	LCK	Unknown	—	CTD, Disgenet, HPO	NF-kappa B signaling pathway Osteoclast differentiation Natural killer cell mediated cytotoxicity +27 more
IMMUNODEFICIENCY 23	615816 C4014371 MONDO:0014353 OMIM:615816	PGM3	Causal	24931394 24589341	CTD, ClinGen, ClinVar, Disgenet, HPO	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars +1 more
IMMUNODEFICIENCY 23	615816 C4014371 MONDO:0014353 OMIM:615816	DOP1A	Unknown	—	Disgenet	—

«‹12 3 ›»

Immunodeficiency

Bookmark This Disease