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 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	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, SEVERE COMBINED	619924	PTPRC	Unknown	—	HPO	Cell adhesion molecules T cell receptor signaling pathway Fc gamma R-mediated phagocytosis +5 more
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 116	608957	CD8A	Unknown	—	HPO	Cell adhesion molecules Antigen processing and presentation Hematopoietic cell lineage +4 more
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 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 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 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 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 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 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	C4014371	DOP1A	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 24	615897 C4014617 OMIM:615897	CTPS1	Unknown	—	CTD, Disgenet, HPO	Pyrimidine metabolism Metabolic pathways Nucleotide metabolism +2 more
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	615966 C4014833 OMIM:615966	PRKDC	Unknown	—	CTD, Disgenet, HPO	Non-homologous end-joining Cell cycle Cytosolic sensors of pathogen-associated DNA +3 more
IMMUNODEFICIENCY 27B	615978 C4014863 OMIM:615978	IFNGR1	Unknown	—	CTD, Disgenet, HPO	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Necroptosis +17 more
IMMUNODEFICIENCY 28	C4013947	TMEM50B	Unknown	—	Disgenet	—
IMMUNODEFICIENCY 29	614890 C4013948 OMIM:614890	IL12B	Unknown	—	CTD, Disgenet, HPO	Cytokine-cytokine receptor interaction Toll-like receptor signaling pathway RIG-I-like receptor signaling pathway +26 more
IMMUNODEFICIENCY 30	614891 C4013949 OMIM:614891	IL12RB1	Unknown	—	CTD, Disgenet, HPO	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th1 and Th2 cell differentiation +5 more
IMMUNODEFICIENCY 31A	614892 C4013950 OMIM:614892	STAT1	Unknown	—	CTD, Disgenet, HPO	Chemokine signaling pathway Necroptosis Osteoclast differentiation +44 more
IMMUNODEFICIENCY 31C	614162 OMIM:614162	STAT1	Unknown	27114460	CTD, HPO	Chemokine signaling pathway Necroptosis Osteoclast differentiation +44 more
IMMUNODEFICIENCY 32A	614893 C3808589 OMIM:614893	IRF8	Unknown	—	CTD, Disgenet, HPO	Pertussis Interferon gamma signaling Interferon alpha/beta signaling
IMMUNODEFICIENCY 33	C1970879	G6PD	Unknown	—	Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
IMMUNODEFICIENCY 34	300645	CYBB	Unknown	—	HPO	HIF-1 signaling pathway Phagosome Ferroptosis +18 more
IMMUNODEFICIENCY 36	C4014934	PIK3R1	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +150 more
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION	616126 C4015293 OMIM:616126	ISG15	Unknown	—	CTD, Disgenet, HPO	RIG-I-like receptor signaling pathway Human papillomavirus infection Epstein-Barr virus infection +7 more
IMMUNODEFICIENCY 39	616345 C4225358 MONDO:0014597	IRF7	Unknown	25814066 31172279 32972995 33225392	ClinVar, Disgenet, GWAS catalog, HPO	Toll-like receptor signaling pathway NOD-like receptor signaling pathway RIG-I-like receptor signaling pathway +18 more
IMMUNODEFICIENCY 39, SUSCEPTIBILITY TO VIRAL INFECTIONS	OMIM:616345	IRF7	Unknown	—	CTD	Toll-like receptor signaling pathway NOD-like receptor signaling pathway RIG-I-like receptor signaling pathway +18 more

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Immunodeficiency

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