Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PRIMARY BILIARY CIRRHOSIS	EFO_1001486	IL1RL2	Unknown	26394269	GWAS catalog	Cytokine-cytokine receptor interaction Interleukin-38 signaling Interleukin-36 pathway
		IL20RA	Unknown	34033851	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor JAK-STAT signaling pathway +1 more
		IL21R	Unknown	26394269 28425483 34033851	GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Th17 cell differentiation +2 more
		IL22RA2	Unknown	34033851	GWAS catalog	JAK-STAT signaling pathway Interleukin-20 family signaling
		IL4R	Unknown	26394269 34033851	GWAS catalog	Cytokine-cytokine receptor interaction PI3K-Akt signaling pathway JAK-STAT signaling pathway +6 more
		IQCJ-SCHIP1	Unknown	38616254	GWAS catalog	—
		IRF8	Unknown	34033851	GWAS catalog	Pertussis Interferon gamma signaling Interferon alpha/beta signaling
		ITGB8	Unknown	34033851	GWAS catalog	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +9 more
		KIF21B	Unknown	34033851	GWAS catalog	Motor proteins COPI-dependent Golgi-to-ER retrograde traffic Kinesins
		LTBR	Unknown	22961000	GWAS catalog	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor NF-kappa B signaling pathway +6 more
		MACIR	Unknown	26394269	GWAS catalog	—
		MANBA	Unknown	21399635 22961000 26394269 30643196 34033851	GWAS catalog	Other glycan degradation Lysosome Neutrophil degranulation +1 more
		MAPT	Unknown	22961000	GWAS catalog	MAPK signaling pathway Alzheimer disease Parkinson disease +2 more
		MAST3	Unknown	34033851	GWAS catalog	—
		NAB1	Unknown	21399635 26394269 34033851 38616254	GWAS catalog	NGF-stimulated transcription EGR2 and SOX10-mediated initiation of Schwann cell myelination
		NADSYN1	Unknown	22936693	GWAS catalog	Nicotinate and nicotinamide metabolism Metabolic pathways Biosynthesis of cofactors +1 more
		NDFIP1	Unknown	34033851	GWAS catalog	—
		PDGFB	Unknown	21399635 28425483	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +25 more
		PLCL2	Unknown	21399635 26394269 34033851	GWAS catalog	—
		POGLUT1	Unknown	34033851	GWAS catalog	Other types of O-glycan biosynthesis
		PRDX5	Unknown	22961000	GWAS catalog	Peroxisome Detoxification of Reactive Oxygen Species TP53 Regulates Metabolic Genes
		PRKCB	Unknown	28062665	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +77 more
		PRORP	Unknown	34033851	GWAS catalog	tRNA processing in the mitochondrion tRNA modification in the mitochondrion rRNA processing in the mitochondrion
		PSMG4	Unknown	28425483	GWAS catalog	—
		RAD51B	Unknown	21399635 22936693 22961000 26394269 34033851	GWAS catalog	Homologous recombination HDR through Homologous Recombination (HRR) Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) +4 more
		RARB	Unknown	34033851	GWAS catalog	Pathways in cancer Small cell lung cancer Non-small cell lung cancer +3 more
		RIN3	Unknown	34033851 38616254	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		RMI2	Unknown	22936693 22961000	GWAS catalog	Fanconi anemia pathway HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +7 more
		RPL3	Unknown	21399635 28425483 34033851	GWAS catalog	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		RPS6KA4	Unknown	21399635	GWAS catalog	MAPK signaling pathway TNF signaling pathway
		SCHIP1	Unknown	38616254	GWAS catalog	—
		SCNN1A	Unknown	22961000	GWAS catalog	Taste transduction Aldosterone-regulated sodium reabsorption Stimuli-sensing channels
		SH2B3	Unknown	34033851	GWAS catalog	Neurotrophin signaling pathway Regulation of KIT signaling Factors involved in megakaryocyte development and platelet production
		SLC22A23	Unknown	28425483	GWAS catalog	—
		SPEF2	Unknown	23000144 30643196 34033851	GWAS catalog	—
		ST8SIA4	Unknown	34033851	GWAS catalog	Sialic acid metabolism NCAM1 interactions
		SYNGR1	Unknown	22936693 22961000 26394269 34033851	GWAS catalog	Neutrophil degranulation
		TCAP	Unknown	38616254	GWAS catalog	Cytoskeleton in muscle cells Striated Muscle Contraction
		TET2	Unknown	34033851	GWAS catalog	—
		TIMMDC1	Unknown	21399635 22936693 22961000 23000144 26394269 28062665 30643196 34033851	GWAS catalog	Complex I biogenesis
		TMEM163	Unknown	34033851	GWAS catalog	—
		TMEM39A	Unknown	28425483	GWAS catalog	—
		TNFSF11	Unknown	22936693	GWAS catalog	Cytokine-cytokine receptor interaction NF-kappa B signaling pathway Osteoclast differentiation +8 more
		UGT3A1	Unknown	21399635 26394269	GWAS catalog	Glucuronidation
		WDFY4	Unknown	34033851	GWAS catalog	—
		ZC3HAV1	Unknown	34033851	GWAS catalog	Herpes simplex virus 1 infection Signaling by BRAF and RAF fusions
		ZPBP2	Unknown	22961000	GWAS catalog	—

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Biliary cholangitis

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