Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PRIMARY BILIARY CHOLANGITIS	186 C0008312	TNFSF15	Unknown	23000144	Disgenet, Orphanet	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
		TNPO3	Unknown	—	Orphanet	Nucleocytoplasmic transport Viral life cycle - HIV-1
		TYK2	Unknown	—	Disgenet	Necroptosis Osteoclast differentiation Toll-like receptor signaling pathway +28 more
		UBD	Unknown	—	Disgenet	Neddylation
		UTP4	Unknown	—	Disgenet	Ribosome biogenesis in eukaryotes Major pathway of rRNA processing in the nucleolus and cytosol
		VDR	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Endocrine and other factor-regulated calcium reabsorption Mineral absorption +5 more
PRIMARY BILIARY CIRRHOSIS	EFO_1001486	ANP32B	Unknown	34033851	GWAS catalog	—
		ARHGAP31	Unknown	38616254	GWAS catalog	Rho GTPase cycle
		ARID3A	Unknown	28425483	GWAS catalog	TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
		ARL14	Unknown	19458352	GWAS catalog	—
		ATG5	Unknown	34033851	GWAS catalog	Autophagy - other Autophagy - animal Longevity regulating pathway +8 more
		ATXN2	Unknown	34033851	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		BAK1	Unknown	38616254	GWAS catalog	Platinum drug resistance Protein processing in endoplasmic reticulum Apoptosis +32 more
		C1ORF53	Unknown	21399635 34033851	GWAS catalog	—
		CACNA1S	Unknown	34033851	GWAS catalog	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +26 more
		CAPSL	Unknown	22936693 22961000 34033851 38616254	GWAS catalog	—
		CCDC88B	Unknown	22961000 26394269 34033851	GWAS catalog	—
		CCL20	Unknown	26394269	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +6 more
		CCR6	Unknown	28425483 34033851	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine signaling pathway +3 more
		CD226	Unknown	34033851	GWAS catalog	Cell adhesion molecules Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
		CD58	Unknown	28425483 34033851	GWAS catalog	Cell adhesion molecules Epstein-Barr virus infection Cell surface interactions at the vascular wall +1 more
		CDC37	Unknown	34033851	GWAS catalog	PI3K-Akt signaling pathway Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants +16 more
		CEP43	Unknown	28425483 34033851	GWAS catalog	Signaling by cytosolic FGFR1 fusion mutants Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes +6 more
		CFAP263	Unknown	28425483	GWAS catalog	—
		DDX6	Unknown	22961000 34033851	GWAS catalog	RNA degradation mRNA decay by 5' to 3' exoribonuclease
		DEAF1	Unknown	34033851	GWAS catalog	—
		DGKQ	Unknown	26394269	GWAS catalog	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways +4 more
		DLEU7	Unknown	34033851	GWAS catalog	—
		DNMT3A	Unknown	34033851	GWAS catalog	Cysteine and methionine metabolism Metabolic pathways Efferocytosis +3 more
		DUS2	Unknown	34033851	GWAS catalog	—
		EBLN1	Unknown	38616254	GWAS catalog	—
		EIF4E	Unknown	23000144	GWAS catalog	EGFR tyrosine kinase inhibitor resistance HIF-1 signaling pathway mTOR signaling pathway +14 more
		ELMO1	Unknown	21399635 22961000 34033851	GWAS catalog	Chemokine signaling pathway Efferocytosis Bacterial invasion of epithelial cells +8 more
		ETS1	Unknown	34033851	GWAS catalog	Ras signaling pathway Cellular senescence Human T-cell leukemia virus 1 infection +3 more
		EXOC3L4	Unknown	21399635 26394269 34033851	GWAS catalog	—
		FBXL20	Unknown	21399635	GWAS catalog	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FCRL3	Unknown	34033851	GWAS catalog	—
		FCRL4	Unknown	34033851	GWAS catalog	—
		GLRA3	Unknown	28425483	GWAS catalog	Neuroactive ligand-receptor interaction Neurotransmitter receptors and postsynaptic signal transmission
		GLS	Unknown	38616254	GWAS catalog	Arginine biosynthesis Alanine, aspartate and glutamate metabolism D-Amino acid metabolism +9 more
		GSDMB	Unknown	22961000	GWAS catalog	—
		HEMGN	Unknown	34033851	GWAS catalog	—
		HLA-DPB1	Unknown	28425483	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HLA-DQB1	Unknown	19458352 20639880 21399635 22936693 22961000 26394269 34033851	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HLA-DRA	Unknown	28062665 28425483	GWAS catalog	Phagosome Cell adhesion molecules Antigen processing and presentation +28 more
		HPGD	Unknown	28425483	GWAS catalog	Arachidonic acid metabolism Transcriptional misregulation in cancer Synthesis of Lipoxins (LX) +2 more
		IKZF1	Unknown	38616254	GWAS catalog	—
		IKZF3	Unknown	19458352 20639880 22936693 23000144 26394269 28062665 28425483 30643196 34033851	GWAS catalog	—
		IL12RB2	Unknown	19458352 20639880 21399635 22936693 22961000 26394269 34033851	GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th1 and Th2 cell differentiation +4 more
		IL16	Unknown	28425483	GWAS catalog	Cytokine-cytokine receptor interaction Other interleukin signaling
		TNFSF15	Unknown	23000144 28062665 30643196 34033851	GWAS catalog	Cytokine-cytokine receptor interaction TNFs bind their physiological receptors
		TNPO3	Unknown	19458352 20639880 21399635 22936693 22961000 26394269 34033851	GWAS catalog	Nucleocytoplasmic transport Viral life cycle - HIV-1
		TYK2	Unknown	22961000 26394269 34033851	GWAS catalog	Necroptosis Osteoclast differentiation Toll-like receptor signaling pathway +28 more

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Biliary cholangitis

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