Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
IMMUNODEFICIENCY 49, SEVERE COMBINED	617237 OMIM:617237	BCL11B	Unknown	—	CTD HPO
IMMUNODEFICIENCY 50	300988 OMIM:300988	MSN	Unknown	—	CTD HPO
IMMUNODEFICIENCY 51	613953 C4310803 MONDO:0013500 OMIM:613953	IL17RA	Causal	21350122 26607704 27930337 28090315	CTD ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 52	617514 C4479588	LAT	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 53	617585 C4539811 MONDO:0054696	RELB	Causal	26385063 33046446 33083013	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 54	609981 OMIM:609981	MCM4	Unknown	—	CTD HPO
IMMUNODEFICIENCY 55	617827	GINS1	Unknown	—	HPO
IMMUNODEFICIENCY 56	615207 C3554687 OMIM:615207	IL21R	Unknown	—	CTD Disgenet HPO
IMMUNODEFICIENCY 57	MONDO:0020849	RIPK1	Causal	—	ClinGen ClinVar GenCC
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION	618108 C4748212	RIPK1	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION	618108 C4748212	SKIC2	Unknown	—	Disgenet
IMMUNODEFICIENCY 58	618131 C4748304	CARMIL2	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA	233600	HYOU1	Unknown	—	HPO
IMMUNODEFICIENCY 60	MONDO:0032723	BACH2	Causal	28530713 32185379 33864888 37148421	ClinGen ClinVar GWAS catalog
IMMUNODEFICIENCY 60 AND AUTOIMMUNITY	618394 C5193072	BACH2	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 61	300310 MONDO:0010296	SH3KBP1	Unknown	21708930 29636373	ClinGen ClinVar HPO Orphanet
IMMUNODEFICIENCY 62	C5193109 618459 MONDO:0032763	ANK1	Unknown	—	Disgenet
		ARHGEF1	Unknown	25984793 29130930 30521495	ClinGen ClinVar Disgenet GWAS catalog HPO
		FANCI	Unknown	—	Disgenet
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	618495 C5193126 MONDO:0032782	IL2RB	Causal	31040184 31040185 3515625	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 64	MONDO:0032803	RASGRP1	Causal	11017103 27776107 28822832 29155103 29282224 30030704 35593944 37898412	ClinGen ClinVar GWAS catalog
IMMUNODEFICIENCY 64 WITH LYMPHOPROLIFERATION	618534 C5231402	RASGRP1	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS	618648 C5231441 MONDO:0032848	IRF9	Unknown	30143481	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 66	618847 C5394265 MONDO:0030013	MRTFA	Causal	23744493 25363768 26224645 27479822 27507698	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 67	607676 MONDO:0011888	IRAK4	Causal	17893200 21057262 24316379 610799	ClinVar Disgenet HPO
IMMUNODEFICIENCY 68	612260	MYD88	Unknown	—	HPO
IMMUNODEFICIENCY 69	618963 C5436498 MONDO:0033541	IFNG	Causal	32163377	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 7	C3809332	TRA	Unknown	—	Disgenet
IMMUNODEFICIENCY 70	618969 C5436501 MONDO:0033542	IVNS1ABP	Causal	32499645	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA	617718 C4540232	ARPC1B	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION	MONDO:0033551	NCKAP1L	Causal	19015308 32647003 32766723	ClinVar GWAS catalog
IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION AND LYMPHOPROLIFERATION	C5436540 618982	NCKAP1	Unknown	—	Disgenet
	C5436540 618982	NCKAP1L	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 73A WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LEUKOCYTOSIS	608203	RAC2	Unknown	—	HPO
IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA	618986 C5436549 MONDO:0033554	RAC2	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA	618987 C5436550 MONDO:0033555	RAC2	Causal	25512081 29921932	ClinGen ClinVar Disgenet HPO Orphanet
IMMUNODEFICIENCY 75	MONDO:0030858	TET2	Causal	32518946 36066697	ClinVar GWAS catalog
IMMUNODEFICIENCY 75 WITH LYMPHOPROLIFERATION	619126 C5436860	TET2	Unknown	—	Disgenet HPO
IMMUNODEFICIENCY 76	619164 C5543004 MONDO:0030898	FCHO1	Causal	20448150 30822429 32098969	ClinGen ClinVar Disgenet HPO
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
IMMUNODEFICIENCY 79	619238 C5543220 MONDO:0030981	CD4	Causal	—	ClinVar Disgenet GenCC HPO
IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION	615401 OMIM:615401	CORO1A	Unknown	—	CTD HPO
IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY	619313 C5543344 MONDO:0030266	MCM10	Causal	15494305 25613900 32865517 33712616	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 81	619374 C5543540 MONDO:0030302	LCP2	Causal	11792851 17420479 33231617 36474126 37211057 7706237 9665884 9695951 9884330	ClinGen ClinVar Disgenet HPO
IMMUNODEFICIENCY 81	619374 C5543540 MONDO:0030302	C5ORF58	Unknown	—	Disgenet
IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION	619381 C5543581 MONDO:0030308	SYK	Causal	33782605	ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 83, SUSCEPTIBILITY TO VIRAL INFECTIONS	C2751803 MONDO:0800187	TLR3	Unknown	17872438 21911422 25339207 26513235 28368532 31217193 32936395	ClinVar Disgenet
IMMUNODEFICIENCY 84	619437 C5561940 MONDO:0030333	IKZF3	Causal	12574333 14718515 25271777 29510406	ClinGen ClinVar Disgenet GWAS catalog HPO
IMMUNODEFICIENCY 85 AND AUTOIMMUNITY	619510 C5561976 MONDO:0030428	TOM1	Causal	31263572 32368696 33864888	ClinVar Disgenet GWAS catalog HPO

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