Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PRIMARY BILIARY CHOLANGITIS	C0008312 186	ABCB4	Unknown	—	Disgenet	ABC transporters Bile secretion PPARA activates gene expression +2 more
		ABCC2	Unknown	—	Disgenet	Antifolate resistance Platinum drug resistance ABC transporters +5 more
		ABCG2	Unknown	—	Disgenet	Antifolate resistance ABC transporters Bile secretion +4 more
		ALB	Unknown	—	Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		CA1	Unknown	—	Disgenet	Nitrogen metabolism Metabolic pathways Erythrocytes take up carbon dioxide and release oxygen +3 more
		CA2	Unknown	—	Disgenet	Nitrogen metabolism Metabolic pathways Proximal tubule bicarbonate reclamation +7 more
		CCL5	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +16 more
		CD3D	Unknown	—	Disgenet	Hematopoietic cell lineage Th1 and Th2 cell differentiation Th17 cell differentiation +16 more
		CD80	Unknown	—	Disgenet	Virion - Adenovirus Cell adhesion molecules Toll-like receptor signaling pathway +16 more
		CDH5	Unknown	—	Disgenet	Cell adhesion molecules Adherens junction Leukocyte transendothelial migration +3 more
		CENPB	Unknown	—	Disgenet	—
		CLEC16A	Unknown	—	Disgenet	—
		CTLA4	Unknown	—	Disgenet	Cell adhesion molecules T cell receptor signaling pathway Autoimmune thyroid disease +3 more
		CXCL10	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +12 more
		CXCL9	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +3 more
		CXCR5	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +2 more
		CYGB	Unknown	—	Disgenet	eNOS activation Intracellular oxygen transport
		DENND1B	Unknown	—	Disgenet	RAB GEFs exchange GTP for GDP on RABs
		ENTPD2	Unknown	—	Disgenet	Purine metabolism Metabolic pathways Nucleotide metabolism +2 more
		HIF1A	Unknown	—	Disgenet	HIF-1 signaling pathway Mitophagy - animal Autophagy - animal +19 more
		HLA-DQA1	Unknown	—	Disgenet	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		IGFBP1	Unknown	—	Disgenet	ATF4 activates genes in response to endoplasmic reticulum stress Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation +1 more
		IL12A	Unknown	—	Disgenet, Orphanet	Cytokine-cytokine receptor interaction Toll-like receptor signaling pathway RIG-I-like receptor signaling pathway +26 more
		IL12B	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Toll-like receptor signaling pathway RIG-I-like receptor signaling pathway +26 more
		IL12RB1	Unknown	—	Orphanet	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th1 and Th2 cell differentiation +5 more
		IL7R	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction FoxO signaling pathway PI3K-Akt signaling pathway +7 more
		IRF5	Unknown	—	Orphanet	Toll-like receptor signaling pathway Interferon gamma signaling Interferon alpha/beta signaling
		KEAP1	Unknown	—	Disgenet	Ubiquitin mediated proteolysis Parkinson disease Pathways in cancer +6 more
		KRT7	Unknown	—	Disgenet	Keratinization Formation of the cornified envelope
		LBR	Unknown	—	Disgenet	Steroid biosynthesis Metabolic pathways Cytoskeleton in muscle cells +3 more
		LOX	Unknown	—	Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		LOXL2	Unknown	—	Disgenet	Elastic fibre formation Crosslinking of collagen fibrils
		MAPK14	Unknown	—	Disgenet	Endocrine resistance MAPK signaling pathway Rap1 signaling pathway +75 more
		MMEL1	Unknown	—	Orphanet	—
		NFE2L2	Unknown	—	Disgenet	Protein processing in endoplasmic reticulum Parkinson disease Pathways in cancer +4 more
		NFKB1	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +96 more
		NOS2	Unknown	—	Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +21 more
		NOS3	Unknown	—	Disgenet	Arginine biosynthesis Arginine and proline metabolism Metabolic pathways +24 more
		NSA2	Unknown	—	Disgenet	—
		NUP62	Unknown	—	Disgenet	Nucleocytoplasmic transport Amyotrophic lateral sclerosis ISG15 antiviral mechanism +25 more
		POU2AF1	Unknown	23000144	Disgenet, Orphanet	—
		RELA	Unknown	—	Disgenet	Antifolate resistance MAPK signaling pathway Ras signaling pathway +95 more
		SLC4A2	Unknown	—	Disgenet	Salivary secretion Gastric acid secretion Pancreatic secretion +2 more
		SLC51A	Unknown	—	Disgenet	Bile secretion
		SLC51B	Unknown	—	Disgenet	Bile secretion
		SPIB	Unknown	—	Disgenet, Orphanet	—
		STAT4	Unknown	—	Disgenet	Necroptosis JAK-STAT signaling pathway Th1 and Th2 cell differentiation +9 more
		TGFB1	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +49 more
		TJP2	Unknown	—	Disgenet	Tight junction Vibrio cholerae infection Signaling by Hippo +1 more
		TNFRSF1A	Unknown	—	Disgenet	MAPK signaling pathway Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor +39 more
PRIMARY BILIARY CIRRHOSIS	EFO_1001486	CLEC16A	Unknown	21399635 22961000 26394269 34033851	GWAS catalog	—
		CTLA4	Unknown	34033851	GWAS catalog	Cell adhesion molecules T cell receptor signaling pathway Autoimmune thyroid disease +3 more
		CXCR5	Unknown	22936693 28425483 34033851	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +2 more
		DENND1B	Unknown	21399635 22936693 22961000 26394269 34033851	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		IL12A	Unknown	28425483	GWAS catalog	Cytokine-cytokine receptor interaction Toll-like receptor signaling pathway RIG-I-like receptor signaling pathway +26 more
		IL7R	Unknown	22961000 23000144 28062665 30643196 34033851	GWAS catalog	Cytokine-cytokine receptor interaction FoxO signaling pathway PI3K-Akt signaling pathway +7 more
		IRF5	Unknown	19458352 20639880 22936693 22961000 26394269	GWAS catalog	Toll-like receptor signaling pathway Interferon gamma signaling Interferon alpha/beta signaling
		MMEL1	Unknown	34033851	GWAS catalog	—
		NFKB1	Unknown	21399635 22961000 28062665 28425483 30643196 34033851 38616254	GWAS catalog	Antifolate resistance MAPK signaling pathway Ras signaling pathway +96 more
		POU2AF1	Unknown	23000144 28062665 34033851	GWAS catalog	—
		SPIB	Unknown	20639880 21399635 26394269 34033851	GWAS catalog	—
		STAT4	Unknown	22936693 22961000 23000144 28425483 34033851	GWAS catalog	Necroptosis JAK-STAT signaling pathway Th1 and Th2 cell differentiation +9 more
		TNFRSF1A	Unknown	21399635 22961000 26394269 28425483 34033851	GWAS catalog	MAPK signaling pathway Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor +39 more

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Biliary cholangitis

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