Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
IMMUNODEFICIENCY 102	301082 C5676886 MONDO:0024781	SASH3	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
IMMUNODEFICIENCY 104	C5676890 MONDO:0012163	IL7R	Causal	—	ClinGen, ClinVar, Disgenet, GenCC	Cytokine-cytokine receptor interaction FoxO signaling pathway PI3K-Akt signaling pathway +7 more
IMMUNODEFICIENCY 104	C5676890 MONDO:0012163	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
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 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 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 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 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 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 131	621097 MONDO:0976229	IRF4	Causal	—	ClinVar, HPO	Th17 cell differentiation Interleukin-4 and Interleukin-13 signaling Interferon gamma signaling +1 more
IMMUNODEFICIENCY 14	MONDO:0014222	PIK3CD	Causal	—	ClinGen, ClinVar, GenCC	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 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 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 25	610163 MONDO:0012426	CD247	Causal	16672702 17170122 1717999 18853439 26915675 27555457 31461748 33655388 8223444 8223445	ClinGen, ClinVar, GWAS catalog, HPO	Natural killer cell mediated cytotoxicity Th1 and Th2 cell differentiation Th17 cell differentiation +17 more
IMMUNODEFICIENCY 27A	209950 C4011949 MONDO:0008856	IFNGR1	Causal	—	ClinVar, Disgenet, GenCC, HPO	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Necroptosis +17 more
IMMUNODEFICIENCY 28	614889 C4013947 MONDO:0013953 OMIM:614889	IFNGR2	Causal	23161749 25135595	CTD, ClinVar, Disgenet, HPO, Orphanet	Cytokine-cytokine receptor interaction HIF-1 signaling pathway Necroptosis +16 more
IMMUNODEFICIENCY 31B	613796 C3151088 MONDO:0013427 OMIM:613796	STAT1	Causal	—	CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO	Chemokine signaling pathway Necroptosis Osteoclast differentiation +44 more
IMMUNODEFICIENCY 32B	226990 C4016741 MONDO:0009194 OMIM:226990	IRF8	Causal	21524210 27893462 25122610 29128673 34666172	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Pertussis Interferon gamma signaling Interferon alpha/beta signaling
IMMUNODEFICIENCY 33	300636 C1970879 MONDO:0010386	IKBKG	Causal	—	ClinVar, Disgenet, GenCC, HPO	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
IMMUNODEFICIENCY 35	611521 MONDO:0012682	TYK2	Causal	11070173 11070174 17088085 22402565 26304966	ClinVar, GWAS catalog, HPO	Necroptosis Osteoclast differentiation Toll-like receptor signaling pathway +28 more
IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION	616005 MONDO:0014453 OMIM:616005	PIK3R1	Causal	—	CTD, ClinVar, GenCC, HPO	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +150 more
IMMUNODEFICIENCY 37	616098 C4015195 MONDO:0014491 OMIM:616098	BCL10	Causal	10400625 11163238 12910267 24074955 25365219 32008135 34868072	CTD, ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	NF-kappa B signaling pathway C-type lectin receptor signaling pathway T cell receptor signaling pathway +8 more
IMMUNODEFICIENCY 45	616669 C4225252 MONDO:0014727 OMIM:616669	IFNAR2	Causal	26424569 30473701 33193576 33225392	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway Necroptosis +16 more
IMMUNODEFICIENCY 47	300972 C4310819 MONDO:0010504 OMIM:300972	ATP6AP1	Causal	27231034	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Lysosome +10 more
IMMUNODEFICIENCY 49	C4310656 MONDO:0014981	BCL11B	Causal	29985992 31347296 37337996	ClinVar, Disgenet	Transcriptional misregulation in cancer
IMMUNODEFICIENCY 51	613953 C4310803 MONDO:0013500 OMIM:613953	IL17RA	Causal	21350122 26607704 27930337 28090315	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction IL-17 signaling pathway Alcoholic liver disease +1 more
IMMUNODEFICIENCY 53	617585 C4539811 MONDO:0054696	RELB	Causal	26385063 33046446 33083013	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +6 more
IMMUNODEFICIENCY 57	MONDO:0020849	RIPK1	Causal	—	ClinGen, ClinVar, GenCC	NF-kappa B signaling pathway Apoptosis Necroptosis +32 more
IMMUNODEFICIENCY 60	MONDO:0032723	BACH2	Causal	28530713 32185379 33864888 37148421	ClinGen, ClinVar, GWAS catalog	—
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	618495 C5193126 MONDO:0032782	IL2RB	Causal	31040184 31040185 3515625	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Endocytosis +12 more
IMMUNODEFICIENCY 64	MONDO:0032803	RASGRP1	Causal	11017103 27776107 28822832 29155103 29282224 30030704 35593944 37898412	ClinGen, ClinVar, GWAS catalog	MAPK signaling pathway Ras signaling pathway Platelet activation +7 more
IMMUNODEFICIENCY 66	618847 C5394265 MONDO:0030013	MRTFA	Causal	23744493 25363768 26224645 27479822 27507698	ClinVar, Disgenet, GWAS catalog, HPO	SUMOylation of transcription cofactors RHO GTPases Activate Formins
IMMUNODEFICIENCY 67	607676 MONDO:0011888	IRAK4	Causal	17893200 21057262 24316379 610799	ClinVar, Disgenet, HPO	MAPK signaling pathway NF-kappa B signaling pathway Toll-like receptor signaling pathway +29 more
IMMUNODEFICIENCY 69	618963 C5436498 MONDO:0033541	IFNG	Causal	32163377	ClinVar, Disgenet, GWAS catalog, HPO	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
IMMUNODEFICIENCY 70	618969 C5436501 MONDO:0033542	IVNS1ABP	Causal	32499645	ClinVar, Disgenet, GWAS catalog, HPO	—
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION	MONDO:0033551	NCKAP1L	Causal	19015308 32647003 32766723	ClinVar, GWAS catalog	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +5 more
IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA	618986 C5436549 MONDO:0033554	RAC2	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +34 more
IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA	618987 C5436550 MONDO:0033555	RAC2	Causal	25512081 29921932	ClinGen, ClinVar, Disgenet, HPO, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +34 more
IMMUNODEFICIENCY 75	MONDO:0030858	TET2	Causal	32518946 36066697	ClinVar, GWAS catalog	—
IMMUNODEFICIENCY 76	619164 C5543004 MONDO:0030898	FCHO1	Causal	20448150 30822429 32098969	ClinGen, ClinVar, Disgenet, HPO	Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
IMMUNODEFICIENCY 77	619223 C5543173 MONDO:0030973	MPEG1	Causal	26038974 26402460 28422754 31130284 31785789 33224153	CTD, ClinVar, Disgenet, HPO	—
IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY	619220 MONDO:0030971	TPP2	Causal	33586135 25525876 25414442	ClinGen, ClinVar, GWAS catalog, HPO	Antigen processing: Ubiquitination & Proteasome degradation
IMMUNODEFICIENCY 79	619238 C5543220 MONDO:0030981	CD4	Causal	—	ClinVar, Disgenet, GenCC, HPO	Viral life cycle - HIV-1 Virion - Human immunodeficiency virus Cytokine-cytokine receptor interaction +23 more
IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY	619313 C5543344 MONDO:0030266	MCM10	Causal	15494305 25613900 32865517 33712616	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	Activation of ATR in response to replication stress Activation of the pre-replicative complex
IMMUNODEFICIENCY 81	619374 C5543540 MONDO:0030302	LCP2	Causal	11792851 17420479 33231617 36474126 37211057 7706237 9665884 9695951 9884330	ClinGen, ClinVar, Disgenet, HPO	Rap1 signaling pathway Osteoclast differentiation Platelet activation +9 more

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Immunodeficiency

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