Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
STEVENS-JOHNSON SYNDROME	EFO_0004276 C0038325 MESH:D013262 36426	ADAM22	Unknown	21221126	GWAS catalog	LGI-ADAM interactions
		AIF1	Unknown	35122707	GWAS catalog	—
		ALB	Unknown	12239465	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		APCS	Unknown	34142820	CTD, Disgenet	Amyloid fiber formation
		BAG6	Unknown	35122707	GWAS catalog	Protein export
		C1QA	Unknown	34142820	CTD, Disgenet	Efferocytosis Complement and coagulation cascades Alcoholic liver disease +9 more
		C1QC	Unknown	34142820	CTD, Disgenet	Efferocytosis Complement and coagulation cascades Alcoholic liver disease +9 more
		CAV1	Unknown	25811541	CTD, Disgenet	Endocytosis Focal adhesion Prion disease +11 more
		CELF2	Unknown	25811541	CTD, Disgenet	—
		CFHR1	Unknown	34142820	CTD, Disgenet	Complement and coagulation cascades Regulation of Complement cascade
		CFP	Unknown	34142820	CTD, Disgenet	Herpes simplex virus 1 infection Alternative complement activation Activation of C3 and C5 +4 more
		CLIC1	Unknown	35122707	GWAS catalog	—
		COPS5	Unknown	25811541	CTD, Disgenet	DNA Damage Recognition in GG-NER Formation of TC-NER Pre-Incision Complex Cargo recognition for clathrin-mediated endocytosis +1 more
		CRP	Unknown	34142820	CTD, Disgenet	Classical antibody-mediated complement activation
		CSF3	Unknown	11321886	CTD, Disgenet	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +6 more
		CTNNB1	Unknown	25811541	CTD, Disgenet	Rap1 signaling pathway Wnt signaling pathway Hippo signaling pathway +51 more
		CUL1	Unknown	25811541	CTD, Disgenet	Cell cycle Oocyte meiosis Ubiquitin mediated proteolysis +33 more
		CUL4A	Unknown	25811541	CTD, Disgenet	Nucleotide excision repair Ubiquitin mediated proteolysis Human immunodeficiency virus 1 infection +9 more
		DDX39B	Unknown	21912425	GWAS catalog	Nucleocytoplasmic transport mRNA surveillance pathway Spliceosome +3 more
		DERL1	Unknown	25811541	CTD, Disgenet	Protein processing in endoplasmic reticulum Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases +4 more
		ELMO1	Unknown	25811541	CTD, Disgenet	Chemokine signaling pathway Efferocytosis Bacterial invasion of epithelial cells +8 more
		EP300	Unknown	25811541	CTD, Disgenet	Polycomb repressive complex Viral life cycle - HIV-1 cAMP signaling pathway +66 more
		FBXO6	Unknown	25811541	CTD, Disgenet	Protein processing in endoplasmic reticulum Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		GFRA2	Unknown	35170024	GWAS catalog	RAF/MAP kinase cascade RET signaling
		GSTM1	Unknown	—	Disgenet	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		HCN4	Unknown	28100913	GWAS catalog	cAMP signaling pathway Taste transduction HCN channels
		HLA-A	Unknown	—	CTD, Disgenet	Endocytosis Phagosome Cellular senescence +25 more
		HLA-B	Unknown	15057820 15743917 16538176 18855540 19694795 19915237 20235791 20485159 21428768 25099164	CTD, Disgenet, Orphanet	Endocytosis Phagosome Cellular senescence +24 more
		HLA-C	Unknown	19629158 28062682 33574277 35122707	CTD, GWAS catalog	Endocytosis Phagosome Cellular senescence +24 more
		HLA-DQB1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HLA-F	Unknown	33574277	GWAS catalog	Endocytosis Phagosome Cellular senescence +21 more
		IFNA2	Unknown	25811541	CTD	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway Necroptosis +26 more
		IFNG	Unknown	25811541	CTD, Disgenet	Proteasome Cytokine-cytokine receptor interaction HIF-1 signaling pathway +33 more
		IKZF1	Unknown	25672763 33574277	Disgenet, GWAS catalog, Orphanet	—
		IL17D	Unknown	33574277	GWAS catalog	Cytokine-cytokine receptor interaction C-type lectin receptor signaling pathway IL-17 signaling pathway
		LAMA2	Unknown	33574277	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +12 more
		LBP	Unknown	34142820	CTD, Disgenet	NF-kappa B signaling pathway Toll-like receptor signaling pathway Alcoholic liver disease +6 more
		LRG1	Unknown	34142820	CTD, Disgenet	Neutrophil degranulation
		LTBP3	Unknown	33574277	GWAS catalog	Molecules associated with elastic fibres
		MAFB	Unknown	21221126	GWAS catalog	Parathyroid hormone synthesis, secretion and action
		MICA	Unknown	21801394	GWAS catalog	Natural killer cell mediated cytotoxicity Kaposi sarcoma-associated herpesvirus infection Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
		MICB	Unknown	35122707	GWAS catalog	Natural killer cell mediated cytotoxicity Kaposi sarcoma-associated herpesvirus infection Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
		MIF	Unknown	9372356	CTD, Disgenet	Tyrosine metabolism Phenylalanine metabolism Metabolic pathways +3 more
		MSH5	Unknown	35122707	GWAS catalog	—
		MUC22	Unknown	21801394 35122707	GWAS catalog	—
		NEDD4	Unknown	25811541	CTD, Disgenet	Ubiquitin mediated proteolysis Endocytosis Tight junction +6 more
		NIPAL2	Unknown	35170024	GWAS catalog	Miscellaneous transport and binding events
		NOS2	Unknown	10620138	CTD, Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +21 more
		NUCB1	Unknown	25811541	CTD, Disgenet	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		ORM1	Unknown	34142820	CTD, Disgenet	Platelet degranulation Neutrophil degranulation

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Stevens-johnson syndrome

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