Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	C1328840 3261 MONDO:0017979 MESH:D056735 601859	ACTA2	Unknown	—	Disgenet
		CASP10	Unknown	10412980 17999750 20301287	Disgenet GWAS catalog Orphanet
		CASP8	Unknown	—	CTD Disgenet
		FAS	Unknown	15877736 17674358 20301287 21885602 22983577 7540117 8929361 10709732 20360470 39060684	CTD Disgenet HPO Orphanet
		FASLG	Unknown	16627752 17605793 20301287	CTD Disgenet HPO Orphanet
		ITK	Unknown	—	Disgenet
		NRAS	Unknown	17517660	CTD Disgenet
		PRKCD	Unknown	23430113	Disgenet GWAS catalog
		RASGRP1	Unknown	29155103	Disgenet GenCC
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFICIENCY	MONDO:0014493	CTLA4	Causal	25213377 25329329 25367873 26478010 26644313 27102614 7481803 7543139 7584144	ClinGen ClinVar GWAS catalog
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY	436159	CTLA4	Unknown	25213377	Orphanet
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1	MONDO:0011158	FAS	Causal	—	ClinVar GenCC
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1	MONDO:0011158	FASLG	Causal	10457197 14764677 16627752 22857792 25451160 26334989 26456038 36621650 7520535	CTD ClinGen ClinVar
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT	C2717884	CASP10	Unknown	—	Disgenet
		FAS	Unknown	—	Disgenet
		FASLG	Unknown	—	Disgenet
		PRKCD	Unknown	—	Disgenet
		RASGRP1	Unknown	—	Disgenet
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2A	MONDO:0011383	CASP10	Causal	9028957 10412980 16446975	ClinGen ClinVar GWAS catalog
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2B	C1846545 MONDO:0011804	CASP8	Causal	121294 12353035 16157684 25814141 9729047	ClinVar Disgenet GWAS catalog
		CASP10	Unknown	—	Disgenet
		FAS	Unknown	—	Disgenet
		FASLG	Unknown	—	Disgenet
		PRKCD	Unknown	—	Disgenet
		RASGRP1	Unknown	—	Disgenet
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 4	MONDO:0013767	KRAS	Causal	—	ClinVar
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 4	MONDO:0013767	NRAS	Causal	—	ClinVar
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	C1866119	FAS	Causal	—	Disgenet
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB	C1866120	FASLG	Causal	—	ClinVar Disgenet
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	603909 C1858968 MESH:C565833	CASP10	Unknown	—	CTD Disgenet HPO
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	615559 C3809928 OMIM:615559	PRKCD	Unknown	—	CTD Disgenet HPO
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III CAUSED BY MUTATION IN PRKCD	MONDO:8000024	PRKCD	Causal	11976687 23319571 23430113 23666743 24240292 26233929	CTD ClinVar
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME-RECURRENT VIRAL INFECTIONS DUE TO CASP8 DEFICIENCY	275517	CASP8	Unknown	16446975 20301287 21447005	Orphanet

Autoimmune lymphoproliferative disorder