Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ESOPHAGEAL CANCER	MONDO_0007576 133239	RHOU	Unknown	34290314	GWAS catalog	Rho GTPase cycle Interleukin-4 and Interleukin-13 signaling
		RNF19A	Unknown	34290314	GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
		RNF6	Unknown	—	HPO	Antigen processing: Ubiquitination & Proteasome degradation
		RPH3A	Unknown	37340002	GWAS catalog	—
		RUNX1	Unknown	21642993	GWAS catalog	Tight junction Th17 cell differentiation Pathways in cancer +20 more
		SEMA5B	Unknown	21642993	GWAS catalog	Axon guidance Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		SEPTIN4	Unknown	34290314	GWAS catalog	Apoptosis Apoptosis - multiple species Release of apoptotic factors from the mitochondria +1 more
		SH2B3	Unknown	27197191	GWAS catalog	Neurotrophin signaling pathway Regulation of KIT signaling Factors involved in megakaryocyte development and platelet production
		SLC45A2	Unknown	33893285 34290314	GWAS catalog	Melanin biosynthesis
		SLK	Unknown	37340002	GWAS catalog	Oocyte meiosis
		SMAD7	Unknown	37340002	GWAS catalog	TGF-beta signaling pathway Hippo signaling pathway Signaling by BMP +3 more
		SMC2	Unknown	34290314	GWAS catalog	Condensation of Prophase Chromosomes Condensation of Prometaphase Chromosomes
		STMN3	Unknown	34290314	GWAS catalog	—
		STN1	Unknown	34290314 37340002	GWAS catalog	Telomere C-strand synthesis initiation
		TAB2	Unknown	29299148	GWAS catalog	MAPK signaling pathway NF-kappa B signaling pathway Osteoclast differentiation +33 more
		TERT	Unknown	34290314	GWAS catalog	Human papillomavirus infection Human T-cell leukemia virus 1 infection Pathways in cancer +4 more
		TESPA1	Unknown	29299148	GWAS catalog	—
		TEX29	Unknown	33893285	GWAS catalog	—
		TGFBR2	Unknown	—	HPO	MAPK signaling pathway Cytokine-cytokine receptor interaction FoxO signaling pathway +28 more
		TGM3	Unknown	34290314 37340002	GWAS catalog	—
		TMX1	Unknown	29299148	GWAS catalog	—
		TOX3	Unknown	37340002	GWAS catalog	—
		TP53	Unknown	28346444	GWAS catalog	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		TRAK2	Unknown	34290314	GWAS catalog	GABAergic synapse
		TRIM46	Unknown	37340002	GWAS catalog	Interferon gamma signaling
		TRPC4AP	Unknown	34290314	GWAS catalog	TRP channels
		TTC33	Unknown	37340002	GWAS catalog	—
		TYR	Unknown	33893285 34290314	GWAS catalog	Tyrosine metabolism Metabolic pathways Melanogenesis +1 more
		UBTD2	Unknown	34290314	GWAS catalog	—
		UNC5CL	Unknown	21642993	GWAS catalog	—
		USHBP1	Unknown	27197191	GWAS catalog	—
		WWOX	Unknown	—	HPO	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
		ZNF276	Unknown	33893285	GWAS catalog	—
ESOPHAGEAL CARCINOMA	EFO_0002916	ACYP2	Unknown	32887889	GWAS catalog	Pyruvate metabolism Metabolic pathways
		ADH4	Unknown	22960999	GWAS catalog	Glycolysis / Gluconeogenesis Fatty acid degradation Tyrosine metabolism +8 more
		ATG2B	Unknown	32887889	GWAS catalog	Autophagy - other Autophagy - animal Alzheimer disease +4 more
		BDKRB1	Unknown	32887889	GWAS catalog	Calcium signaling pathway Neuroactive ligand-receptor interaction Complement and coagulation cascades +6 more
		CFAP144	Unknown	32887889	GWAS catalog	—
		CHEK2	Unknown	20729852 22960999	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		ECRG4	Unknown	32887889	GWAS catalog	—
		EPG5	Unknown	32887889	GWAS catalog	Autophagy - animal
		HAP1	Unknown	22960999	GWAS catalog	GABAergic synapse Amyotrophic lateral sclerosis Huntington disease +1 more
		HEATR3	Unknown	22960999	GWAS catalog	—
		IGFBP2	Unknown	22960999	GWAS catalog	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
		JUP	Unknown	22960999	GWAS catalog	Cytoskeleton in muscle cells Pathways in cancer Transcriptional misregulation in cancer +8 more
		MAST2	Unknown	32887889	GWAS catalog	—
		MUC1	Unknown	20729852	GWAS catalog	Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC) Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) Defective GALNT12 causes colorectal cancer 1 (CRCS1) +4 more
		PTPN2	Unknown	22960999	GWAS catalog	JAK-STAT signaling pathway Negative regulation of MET activity Regulation of IFNG signaling +1 more
		RMDN2	Unknown	32887889	GWAS catalog	—
		RPH3A	Unknown	37340002	GWAS catalog	—
		RUNX1	Unknown	21642993	GWAS catalog	Tight junction Th17 cell differentiation Pathways in cancer +20 more
		SAMD5	Unknown	32887889	GWAS catalog	—
		SEMA5B	Unknown	21642993	GWAS catalog	Axon guidance Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		UNC5CL	Unknown	21642993	GWAS catalog	—
MALIGNANT TUMOR OF ESOPHAGUS		RNF6	Unknown	17460548 10213508 12154016 10097140 19558548 10789724 11956080	ClinVar	Antigen processing: Ubiquitination & Proteasome degradation

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Esophageal cancer

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