Hyper-igm immunodeficiency syndrome | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HYPER-IGM IMMUNODEFICIENCY SYNDROME	MESH:D053306	AICDA	Unknown	—	CTD	Intestinal immune network for IgA production Primary immunodeficiency
		CD40	Unknown	—	CTD	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +17 more
		UNG	Unknown	—	CTD	Base excision repair Primary immunodeficiency Recognition and association of DNA glycosylase with site containing an affected pyrimidine +2 more
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1	C0398689 MESH:D053307	CD40	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +17 more
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 1	C0398689 MESH:D053307	CD40LG	Unknown	15611226	CTD, Disgenet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +14 more
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 2	C1720956	AICDA	Unknown	—	Disgenet	Intestinal immune network for IgA production Primary immunodeficiency
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 2	C1720956	TNFRSF13B	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Intestinal immune network for IgA production Primary immunodeficiency +1 more
HYPER-IGM IMMUNODEFICIENCY SYNDROME, TYPE 5	C1720958	UNG	Unknown	—	Disgenet	Base excision repair Primary immunodeficiency Recognition and association of DNA glycosylase with site containing an affected pyrimidine +2 more
HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	C1846008	G6PD	Unknown	—	Disgenet	Pentose phosphate pathway Glutathione metabolism Metabolic pathways +5 more
	C1846008	IKBKG	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +76 more
HYPER-IGM SYNDROME TYPE 1	MONDO:0010626	CD40LG	Causal	11875495 7679206 8094231 7679801 17146684 20301576 7882172 7678782 7586644	ClinGen, ClinVar, GenCC	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +14 more
HYPER-IGM SYNDROME TYPE 2	101089 MONDO:0011528	AICDA	Causal	11007475	ClinGen, ClinVar, GenCC, Orphanet	Intestinal immune network for IgA production Primary immunodeficiency
HYPER-IGM SYNDROME TYPE 3	101090 MONDO:0011735	CD40	Causal	11675497 12584544 17502893 20702779 22443339 24122029 25511220 26545377 34623902 7534202	ClinGen, ClinVar, GWAS catalog, Orphanet	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Cell adhesion molecules +17 more
HYPER-IGM SYNDROME TYPE 5	101092 MONDO:0011971	UNG	Causal	12958596 15494304 15967827 19302039 30337470	ClinGen, ClinVar, Disgenet, Orphanet	Base excision repair Primary immunodeficiency Recognition and association of DNA glycosylase with site containing an affected pyrimidine +2 more