Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME	C1328840 3261 MONDO:0017979 MESH:D056735 601859	ACTA2	Unknown	—	Disgenet	Vascular smooth muscle contraction Apelin signaling pathway Motor proteins +3 more
		CASP10	Unknown	10412980 17999750 20301287	Disgenet, GWAS catalog, Orphanet	Apoptosis RIG-I-like receptor signaling pathway TNF signaling pathway +6 more
		CASP8	Unknown	—	CTD, Disgenet	Platinum drug resistance p53 signaling pathway Apoptosis +53 more
		FAS	Unknown	15877736 17674358 20301287 21885602 22983577 7540117 8929361 10709732 20360470 39060684	CTD, Disgenet, HPO, Orphanet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
		FASLG	Unknown	16627752 17605793 20301287	CTD, Disgenet, HPO, Orphanet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
		ITK	Unknown	—	Disgenet	Chemokine signaling pathway T cell receptor signaling pathway Leukocyte transendothelial migration +2 more
		NRAS	Unknown	17517660	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
		PRKCD	Unknown	23430113	Disgenet, GWAS catalog	Chemokine signaling pathway Autophagy - animal Vascular smooth muscle contraction +26 more
		RASGRP1	Unknown	29155103	Disgenet, GenCC	MAPK signaling pathway Ras signaling pathway Platelet activation +7 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFICIENCY	MONDO:0014493	CTLA4	Causal	25213377 25329329 25367873 26478010 26644313 27102614 7481803 7543139 7584144	ClinGen, ClinVar, GWAS catalog	Cell adhesion molecules T cell receptor signaling pathway Autoimmune thyroid disease +3 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY	436159	CTLA4	Unknown	25213377	Orphanet	Cell adhesion molecules T cell receptor signaling pathway Autoimmune thyroid disease +3 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1	MONDO:0011158	FAS	Causal	—	ClinVar, GenCC	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1	MONDO:0011158	FASLG	Causal	10457197 14764677 16627752 22857792 25451160 26334989 26456038 36621650 7520535	CTD, ClinGen, ClinVar	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 1, AUTOSOMAL DOMINANT	C2717884	CASP10	Unknown	—	Disgenet	Apoptosis RIG-I-like receptor signaling pathway TNF signaling pathway +6 more
		FAS	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
		FASLG	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
		PRKCD	Unknown	—	Disgenet	Chemokine signaling pathway Autophagy - animal Vascular smooth muscle contraction +26 more
		RASGRP1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Platelet activation +7 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2A	MONDO:0011383	CASP10	Causal	9028957 10412980 16446975	ClinGen, ClinVar, GWAS catalog	Apoptosis RIG-I-like receptor signaling pathway TNF signaling pathway +6 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 2B	C1846545 MONDO:0011804	CASP8	Causal	121294 12353035 16157684 25814141 9729047	ClinVar, Disgenet, GWAS catalog	Platinum drug resistance p53 signaling pathway Apoptosis +53 more
		CASP10	Unknown	—	Disgenet	Apoptosis RIG-I-like receptor signaling pathway TNF signaling pathway +6 more
		FAS	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
		FASLG	Unknown	—	Disgenet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
		PRKCD	Unknown	—	Disgenet	Chemokine signaling pathway Autophagy - animal Vascular smooth muscle contraction +26 more
		RASGRP1	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Platelet activation +7 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 4	MONDO:0013767	KRAS	Causal	—	ClinVar	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE 4	MONDO:0013767	NRAS	Causal	—	ClinVar	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +130 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	C1866119	FAS	Causal	—	Disgenet	Platinum drug resistance MAPK signaling pathway Cytokine-cytokine receptor interaction +36 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB	C1866120	FASLG	Causal	—	ClinVar, Disgenet	Platinum drug resistance MAPK signaling pathway Ras signaling pathway +38 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA	603909 C1858968 MESH:C565833	CASP10	Unknown	—	CTD, Disgenet, HPO	Apoptosis RIG-I-like receptor signaling pathway TNF signaling pathway +6 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III	615559 C3809928 OMIM:615559	PRKCD	Unknown	—	CTD, Disgenet, HPO	Chemokine signaling pathway Autophagy - animal Vascular smooth muscle contraction +26 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III CAUSED BY MUTATION IN PRKCD	MONDO:8000024	PRKCD	Causal	11976687 23319571 23430113 23666743 24240292 26233929	CTD, ClinVar	Chemokine signaling pathway Autophagy - animal Vascular smooth muscle contraction +26 more
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME-RECURRENT VIRAL INFECTIONS DUE TO CASP8 DEFICIENCY	275517	CASP8	Unknown	16446975 20301287 21447005	Orphanet	Platinum drug resistance p53 signaling pathway Apoptosis +53 more

Autoimmune lymphoproliferative disorder

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