Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
IMMUNODEFICIENCY 10	612783	STIM1	Unknown	—	HPO
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA	618042 C4747984	OAS1	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 101	619872 C5676983 MONDO:0030813	POLR3F	Unknown	30211253	ClinVar Disgenet GWAS catalog HPO
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
IMMUNODEFICIENCY 104	C5676890 MONDO:0012163	IL7R	Causal	—	ClinGen ClinVar Disgenet GenCC
		PTPRC	Causal	10700239 11145714 1380033 22689986 22724066 2550143 26915675 28735895 7428806 8334701 8428589 8666928 8943569	ClinGen Disgenet GWAS catalog
		RAG2	Unknown	—	Disgenet
IMMUNODEFICIENCY 104, SEVERE COMBINED	608971	IL7R	Unknown	—	HPO
IMMUNODEFICIENCY 105	C5677005 MONDO:0800104	PTPRC	Causal	—	ClinVar Disgenet
IMMUNODEFICIENCY 105, SEVERE COMBINED	619924	PTPRC	Unknown	—	HPO
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
IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION	C5774192 MONDO:0031030	OTULIN	Causal	—	ClinVar Disgenet GenCC
IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION	260570	CEBPE	Unknown	—	HPO
IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION	620282 C5830346 MONDO:0859526	TNFRSF9	Unknown	12023342 12356681 19608748 29311309 30872117 31501153 31537641 37144041 9464265	CTD ClinGen ClinVar Disgenet HPO
IMMUNODEFICIENCY 11	C3554686	CARD11	Unknown	—	Disgenet
IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION	C3553943 614868 OMIM:614868	MST1	Unknown	—	Disgenet
IMMUNODEFICIENCY 110 WITH LYMPHOPROLIFERATION	C3553943 614868 OMIM:614868	STK4	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 112	620449 C5830633 MONDO:0957535	MAP3K14	Causal	—	ClinVar Disgenet HPO
IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION	620565 C5882711 MONDO:0957920	ARPC5	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE	620603 C5882719 MONDO:0957955	SLC19A1	Causal	11266438 24691418 32276275 36517554 36745868	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION	620632 C5882724 MONDO:0957981	RNF31	Causal	26008899 30936877 32543267 33215740 38582895 39009172	ClinGen ClinVar Disgenet HPO
IMMUNODEFICIENCY 116	608957	CD8A	Unknown	—	HPO
IMMUNODEFICIENCY 117	620668 C5882739 MONDO:0958011	IRF1	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 118	301115 C5882665 MONDO:0958030	MCTS1	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 119	620825 C5935621 MONDO:0970993	ICOSLG	Unknown	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 11A	615206 OMIM:615206	CARD11	Unknown	—	CTD 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
IMMUNODEFICIENCY 12	615468 C3809583 OMIM:615468	MALT1	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 120	620836 C5935622 MONDO:0970994	POLD1	Unknown	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION	620807 C5935616 MONDO:0971001	PSMB10	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 122	620869 C5935632 MONDO:0971151	POLD3	Unknown	27524497 37030525 38099988	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS	620901 C5935639 MONDO:0971177	CD28	Unknown	34214472	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 124, SEVERE COMBINED	611291	NHEJ1	Unknown	—	HPO
IMMUNODEFICIENCY 125	620926 MONDO:0975749	FLT3LG	Unknown	—	ClinVar HPO
IMMUNODEFICIENCY 126	620931	PTCRA	Unknown	—	HPO
IMMUNODEFICIENCY 126, SUSCEPTIBILITY TO	MONDO:0975761	PTCRA	Unknown	—	ClinVar
IMMUNODEFICIENCY 127	620977 MONDO:0975832	TNF	Unknown	—	ClinVar HPO
IMMUNODEFICIENCY 128	620983 MONDO:0975834	COPG1	Unknown	—	ClinVar HPO
IMMUNODEFICIENCY 129	618307	RHOH	Unknown	—	HPO
IMMUNODEFICIENCY 13	615518 C3809768	UNC119	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 130 WITH HPV-RELATED VERRUCOSIS	618309	IL7	Unknown	—	HPO
IMMUNODEFICIENCY 131	621097 MONDO:0976229	IRF4	Causal	—	ClinVar HPO
IMMUNODEFICIENCY 132A	614849	TRAF3	Unknown	—	HPO
IMMUNODEFICIENCY 132B	621096 MONDO:0976228	TRAF3	Unknown	—	ClinVar HPO
IMMUNODEFICIENCY 133 WITH ECTODERMAL DYSPLASIA WITH OR WITHOUT PERIPHERAL NEUROPATHY	621254	ITPR3	Unknown	—	ClinVar
IMMUNODEFICIENCY 14	MONDO:0014222	PIK3CD	Causal	—	ClinGen ClinVar GenCC
IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT	615513 OMIM:615513	PIK3CD	Unknown	—	CTD HPO
IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE	619281 C5543301 MONDO:0023655	PIK3CD	Causal	12130661 12235209 30040974 30336224 31073077 9235916	ClinGen ClinVar Disgenet HPO
IMMUNODEFICIENCY 15A	618204 C4748694 MONDO:0032599	IKBKB	Causal	30337470 32554083	ClinGen ClinVar Disgenet GWAS catalog HPO

«‹12 3 ›»

Immunodeficiency