Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
IMMUNODEFICIENCY 15B	615592 C4747743 OMIM:615592	IKBKB	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 16	615593 C3810053 OMIM:615593	TNFRSF4	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 17	615607 C3810107 OMIM:615607	CD3G	Unknown	—	CTD Disgenet HPO
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
IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY VARIANT	C3810128	CD3E	Causal	—	Disgenet
IMMUNODEFICIENCY 19	C3810147 MONDO:0014280	CD3D	Causal	14602880 15546002 15729559 18853439 21926461 28916186 31461748 33628209 34249896 9135151	ClinGen ClinVar Disgenet GWAS catalog
IMMUNODEFICIENCY 19, SEVERE COMBINED	615617 OMIM:615617	CD3D	Unknown	—	CTD HPO
IMMUNODEFICIENCY 20	615707 C3810342 OMIM:615707	FCGR3A	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 21	614172 OMIM:614172	GATA2	Unknown	—	CTD HPO
IMMUNODEFICIENCY 22	615758 C4014233 OMIM:615758	LCK	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 23	615816 C4014371 MONDO:0014353 OMIM:615816	PGM3	Causal	24931394 24589341	CTD ClinGen ClinVar Disgenet HPO
IMMUNODEFICIENCY 23	615816 C4014371 MONDO:0014353 OMIM:615816	DOP1A	Unknown	—	Disgenet
IMMUNODEFICIENCY 24	615897 C4014617 OMIM:615897	CTPS1	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 25	610163 MONDO:0012426	CD247	Causal	16672702 17170122 1717999 18853439 26915675 27555457 31461748 33655388 8223444 8223445	ClinGen ClinVar GWAS catalog HPO
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES	615966 C4014833 OMIM:615966	PRKDC	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 27A	209950 C4011949 MONDO:0008856	IFNGR1	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 27B	615978 C4014863 OMIM:615978	IFNGR1	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 28	614889 C4013947 MONDO:0013953 OMIM:614889	IFNGR2	Causal	23161749 25135595	CTD ClinVar Disgenet HPO Orphanet
IMMUNODEFICIENCY 28	614889 C4013947 MONDO:0013953 OMIM:614889	TMEM50B	Unknown	—	Disgenet
IMMUNODEFICIENCY 29	614890 C4013948 OMIM:614890	IL12B	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 30	614891 C4013949 OMIM:614891	IL12RB1	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 31A	614892 C4013950 OMIM:614892	STAT1	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 31B	613796 C3151088 MONDO:0013427 OMIM:613796	STAT1	Causal	—	CTD ClinGen ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 31C	614162 OMIM:614162	STAT1	Unknown	—	CTD HPO
IMMUNODEFICIENCY 32A	614893 C3808589 OMIM:614893	IRF8	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 32B	226990 C4016741 MONDO:0009194 OMIM:226990	IRF8	Causal	21524210 27893462 25122610 29128673 34666172	CTD ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 33	300636 C1970879 MONDO:0010386	IKBKG	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 33	300636 C1970879 MONDO:0010386	G6PD	Unknown	—	Disgenet
IMMUNODEFICIENCY 34	300645	CYBB	Unknown	—	HPO
IMMUNODEFICIENCY 35	611521 MONDO:0012682	TYK2	Causal	11070173 11070174 17088085 22402565 26304966	ClinVar GWAS catalog HPO
IMMUNODEFICIENCY 36	C4014934	PIK3R1	Unknown	—	Disgenet
IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION	616005 MONDO:0014453 OMIM:616005	PIK3R1	Causal	—	CTD ClinVar GenCC HPO
IMMUNODEFICIENCY 37	616098 C4015195 MONDO:0014491 OMIM:616098	BCL10	Causal	10400625 11163238 12910267 24074955 25365219 32008135 34868072	CTD ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION	616126 C4015293 OMIM:616126	ISG15	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 39	616345 C4225358 MONDO:0014597	IRF7	Unknown	25814066 31172279 32972995 33225392	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 39, SUSCEPTIBILITY TO VIRAL INFECTIONS	OMIM:616345	IRF7	Unknown	—	CTD
IMMUNODEFICIENCY 40	616433 C4225328 OMIM:616433	DOCK2	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 40	616433 C4225328 OMIM:616433	INSYN2B	Unknown	—	Disgenet
IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	606367	IL2RA	Unknown	—	HPO
IMMUNODEFICIENCY 42	616622 OMIM:616622	RORC	Unknown	—	CTD HPO
IMMUNODEFICIENCY 43	241600	B2M	Unknown	—	HPO
IMMUNODEFICIENCY 44	C4225260 616636 OMIM:616636	IFNAR2	Unknown	—	Disgenet
		IFNAR2-IL10RB	Unknown	—	Disgenet
		STAT2	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 45	616669 C4225252 MONDO:0014727 OMIM:616669	IFNAR2	Causal	26424569 30473701 33193576 33225392	CTD ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 45	616669 C4225252 MONDO:0014727 OMIM:616669	IFNAR2-IL10RB	Unknown	—	Disgenet
IMMUNODEFICIENCY 46	616740 OMIM:616740	TFRC	Unknown	—	CTD HPO
IMMUNODEFICIENCY 47	300972 C4310819 MONDO:0010504 OMIM:300972	ATP6AP1	Causal	27231034	CTD ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 48	269840 C5575025 OMIM:269840	ZAP70	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 49	C4310656 MONDO:0014981	BCL11B	Causal	29985992 31347296 37337996	ClinVar Disgenet

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Immunodeficiency