Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
ENDOMETRIAL CANCER	MONDO_0011962 608089	ABO	Unknown	37636041	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
		ADAM12	Unknown	24096698	GWAS catalog	Invadopodia formation
		AKT1	Unknown	27135401	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		ANKRD11	Unknown	34290314	GWAS catalog	—
		ARHGEF10L	Unknown	33893285	GWAS catalog	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		ASIP	Unknown	27197191 34290314	GWAS catalog	Melanogenesis
		ATXN2	Unknown	27197191 30093612 34290314	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		AZGP1	Unknown	37340002	GWAS catalog	Miscellaneous transport and binding events
		BABAM1	Unknown	27197191	GWAS catalog	Homologous recombination Metalloprotease DUBs Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks +3 more
		BAD	Unknown	34290314	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +44 more
		BCL11A	Unknown	30093612 37636041 40633141	GWAS catalog	—
		BCL2L11	Unknown	34290314	GWAS catalog	EGFR tyrosine kinase inhibitor resistance FoxO signaling pathway PI3K-Akt signaling pathway +13 more
		BNC2	Unknown	33893285	GWAS catalog	—
		BPIFA3	Unknown	34290314	GWAS catalog	—
		BPTF	Unknown	30093612	GWAS catalog	ATP-dependent chromatin remodeling
		BRCA2	Unknown	27197191 34290314	GWAS catalog	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		C11ORF65	Unknown	34290314	GWAS catalog	—
		CACNA2D3	Unknown	24096698	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CASP8	Unknown	33893285 34290314	GWAS catalog	Platinum drug resistance p53 signaling pathway Apoptosis +53 more
		CASP8AP2	Unknown	31488892	GWAS catalog	SUMOylation of transcription cofactors
		CCDC170	Unknown	37340002	GWAS catalog	—
		CCDC85A	Unknown	31488892	GWAS catalog	—
		CDH1	Unknown	—	HPO	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		CDK5RAP1	Unknown	34290314	GWAS catalog	—
		CELF2	Unknown	34290314	GWAS catalog	—
		CERS2	Unknown	34290314	GWAS catalog	Sphingolipid metabolism Metabolic pathways Sphingolipid signaling pathway +1 more
		CHMP4B	Unknown	34290314	GWAS catalog	Viral life cycle - HIV-1 Virion - Hepatitis viruses Endocytosis +6 more
		CLK1	Unknown	34290314	GWAS catalog	Legionellosis
		CSMD2	Unknown	30093612	GWAS catalog	—
		CTAGE1	Unknown	30093612	GWAS catalog	—
		CYP19A1	Unknown	27135401 30093612 37340002 37636041 40633141	GWAS catalog	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +3 more
		DCAF4	Unknown	34290314	GWAS catalog	Neddylation
		DLGAP4	Unknown	34290314	GWAS catalog	Neurexins and neuroligins
		DMRTA1	Unknown	40633141	GWAS catalog	—
		DPEP1	Unknown	34290314	GWAS catalog	Synthesis of Leukotrienes (LT) and Eoxins (EX) Aflatoxin activation and detoxification LTC4-CYSLTR mediated IL4 production
		EEFSEC	Unknown	30093612	GWAS catalog	—
		EIF2AK4	Unknown	27135401 30093612	GWAS catalog	Autophagy - animal Hepatitis C Measles +1 more
		EPB41L1	Unknown	33893285 34290314	GWAS catalog	Trafficking of AMPA receptors Neurexins and neuroligins
		EPHB6	Unknown	29299148	GWAS catalog	Axon guidance EPH-Ephrin signaling EPHB-mediated forward signaling +2 more
		ESR1	Unknown	37340002	GWAS catalog	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		EVI2A	Unknown	30093612 40633141	GWAS catalog	—
		FAM76B	Unknown	29299148	GWAS catalog	—
		FAM83C	Unknown	34290314	GWAS catalog	—
		FANCA	Unknown	33893285 34290314	GWAS catalog	Fanconi anemia pathway Fanconi Anemia Pathway
		FARP1	Unknown	34290314	GWAS catalog	—
		FBRSL1	Unknown	34290314	GWAS catalog	Polycomb repressive complex
		FGFR2	Unknown	34290314 37340002	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
		FIGLA	Unknown	34290314	GWAS catalog	—
		FOXP1	Unknown	34290314	GWAS catalog	MicroRNAs in cancer Transcriptional regulation of pluripotent stem cells
		MSH3	Unknown	—	HPO	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
ENDOMETRIAL CARCINOMA	HP:0012114 MONDO:0002447 EFO_1001512	CDH1	Causal	21642682 11153917 14961575 8782829 16506206 11306449	ClinVar	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		MSH3	Causal	14961575 11153917 8782829 21642682 11306449 16506206	ClinVar	Platinum drug resistance Mismatch repair Pathways in cancer +4 more
		ADAM12	Unknown	24096698	GWAS catalog	Invadopodia formation
		AKT1	Unknown	27135401	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		ATXN2	Unknown	30093612	GWAS catalog	Amyotrophic lateral sclerosis Spinocerebellar ataxia Pathways of neurodegeneration - multiple diseases
		BCL11A	Unknown	30093612 40633141	GWAS catalog	—
		BPTF	Unknown	30093612	GWAS catalog	ATP-dependent chromatin remodeling
		CACNA2D3	Unknown	24096698	GWAS catalog	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CASP8AP2	Unknown	31488892	GWAS catalog	SUMOylation of transcription cofactors
		CCDC85A	Unknown	31488892	GWAS catalog	—
		CSMD2	Unknown	30093612	GWAS catalog	—
		CTAGE1	Unknown	30093612	GWAS catalog	—
		CYP19A1	Unknown	27135401 30093612 37340002 40633141	GWAS catalog	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +3 more
		DMRTA1	Unknown	40633141	GWAS catalog	—
		EEFSEC	Unknown	30093612	GWAS catalog	—
		EIF2AK4	Unknown	27135401 30093612	GWAS catalog	Autophagy - animal Hepatitis C Measles +1 more
		EVI2A	Unknown	30093612 40633141	GWAS catalog	—
ENDOMETRIAL ENDOMETRIOID CARCINOMA	EFO_1001514	AKT1	Unknown	27135401	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		CYP19A1	Unknown	27135401	GWAS catalog	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +3 more
		EIF2AK4	Unknown	27135401	GWAS catalog	Autophagy - animal Hepatitis C Measles +1 more

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