Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BRCAX BREAST CANCER	EFO_0009443	ASPH	Unknown	30323354	GWAS catalog	Calcium signaling pathway Cardiac muscle contraction Stimuli-sensing channels +1 more
		BET1	Unknown	30323354	GWAS catalog	SNARE interactions in vesicular transport COPII-mediated vesicle transport COPI-mediated anterograde transport
		CCDC170	Unknown	30323354	GWAS catalog	—
		CTNNBL1	Unknown	30323354	GWAS catalog	Spliceosome mRNA Splicing - Major Pathway
		DCAF12	Unknown	30323354	GWAS catalog	—
		DOCK1	Unknown	30323354	GWAS catalog	Efferocytosis Focal adhesion Fc gamma R-mediated phagocytosis +10 more
		ESR1	Unknown	30323354	GWAS catalog	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		FGFR2	Unknown	30323354	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
		ITPR2	Unknown	30323354	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Phosphatidylinositol signaling system +48 more
		PDE7B	Unknown	30323354	GWAS catalog	Purine metabolism Metabolic pathways Morphine addiction +1 more
		SIAH2	Unknown	30323354	GWAS catalog	Netrin-1 signaling Ub-specific processing proteases Amyloid fiber formation +1 more
		SLC39A11	Unknown	30323354	GWAS catalog	Alzheimer disease Parkinson disease
		UBAP1	Unknown	30323354	GWAS catalog	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
		UBL3	Unknown	30323354	GWAS catalog	—
BREAST ADENOSIS	EFO_0006891	CSMD1	Unknown	40465716	GWAS catalog	—
BREAST CANCER	MONDO_0007254 MONDO:0007254 114480	A4GALT	Unknown	29059683 37340002	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways
		ABAT	Unknown	38538606	GWAS catalog	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
		ABCA4	Unknown	38501904	GWAS catalog	ABC transporters Retinoid cycle disease events The canonical retinoid cycle in rods (twilight vision) +1 more
		ABCA8	Unknown	29059683	GWAS catalog	ABC transporters ABC-family proteins mediated transport
		ABCC4	Unknown	17903305	GWAS catalog	Antifolate resistance ABC transporters cAMP signaling pathway +4 more
		ABCF1	Unknown	29059683	GWAS catalog	ABC-family proteins mediated transport
		ABHD8	Unknown	29059683 36819030	GWAS catalog	—
		ABO	Unknown	36819030 37636041	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways +1 more
		ACBD5	Unknown	29059683	GWAS catalog	Peroxisomal lipid metabolism Class I peroxisomal membrane protein import
		ACIN1	Unknown	38538606	GWAS catalog	Nucleocytoplasmic transport mRNA surveillance pathway Spliceosome +1 more
		ACO1	Unknown	37340002	GWAS catalog	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		ACO2	Unknown	29059683	GWAS catalog	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		ADAM29	Unknown	23535729 25751625 29059683 32139696 32887889 34594039 36819030 37340002	GWAS catalog	—
		ADAM30	Unknown	29059683	GWAS catalog	Interaction With Cumulus Cells And The Zona Pellucida
		ADAMTS16	Unknown	23468962 40229280	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAP2	Unknown	36819030	GWAS catalog	—
		ADARB2	Unknown	34981446	GWAS catalog	—
		ADCK1	Unknown	40229280	GWAS catalog	—
		ADCY3	Unknown	29059683 32139696 37380357	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADCY8	Unknown	29059683	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADCY9	Unknown	29058716 29059683	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADD3	Unknown	34290314	GWAS catalog	Miscellaneous transport and binding events
		ADGRL2	Unknown	38254997	GWAS catalog	—
		ADSS1	Unknown	29059683 32139696	GWAS catalog	Purine metabolism Alanine, aspartate and glutamate metabolism Metabolic pathways +3 more
		AFAP1	Unknown	38538606	GWAS catalog	—
		BARD1	Unknown	33471991 37592023	GWAS catalog	Homologous recombination HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +11 more
		BRCA1	Unknown	—	HPO	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		BRCA2	Unknown	23535729 23535733 25751625 29059683	GWAS catalog	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CCDC170	Unknown	19219042 20453838 21263130 23535729 23535733 25327703 25751625 27117709 27354352 29059683 31757997 32139696 32514122 32887889 34018994 34290314 34594039 37340002 37851288 38538606 39789286 40465716	GWAS catalog	—
		CDH1	Unknown	—	HPO	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		CHEK2	Unknown	25751625 29059683 32887889 34737426 38538606	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		DCAF12	Unknown	37340002	GWAS catalog	—
		ESR1	Unknown	19219042 22383897 22976474 23535733 25327703 25751625 27117709 27354352 29059683 31757997 32139696 32514122 32887889 34018994 34594039 36819030 37340002 37636041 37851288 38741014 38836758 39789286 40465716	GWAS catalog, HPO	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		FGFR2	Unknown	17529967 17529973 19330030 20453838 20872241 21263130 22951594 23354978 23535729 24143190 24493630 25751625 25956309 27354352 29059683 31757997 32139696 32514122 32808324 32887889 34290314 34594039 35267517 36819030 37340002 38538	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
		PALB2	Unknown	34290314 34594039	GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		PIK3CA	Unknown	—	HPO	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PPM1D	Unknown	—	HPO	p53 signaling pathway Transcriptional regulation by RUNX2
		RB1CC1	Unknown	—	HPO	Autophagy - animal Longevity regulating pathway Alzheimer disease +5 more
		SIAH2	Unknown	22951594 31757997 32139696 32514122 34594039 37340002	GWAS catalog	Netrin-1 signaling Ub-specific processing proteases Amyloid fiber formation +1 more
		TP53	Unknown	—	GenCC, HPO	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		UBAP1	Unknown	37340002	GWAS catalog	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
BREAST CARCINOMA	EFO_0000305	BRCA2	Causal	23535729 23535733 25751625 27117709 27197191 29058716 29059683 34290314	GWAS catalog	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CHEK2	Causal	25751625 29059683 32887889 38538606	GWAS catalog	Cell cycle p53 signaling pathway Cellular senescence +9 more
		PALB2	Causal	34290314 34594039	GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		TP53	Causal	28346444 32424353 32887889	GWAS catalog	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		A4GALT	Unknown	29059683 37340002	GWAS catalog	Glycosphingolipid biosynthesis - lacto and neolacto series Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways
		ABAT	Unknown	38538606	GWAS catalog	Alanine, aspartate and glutamate metabolism Valine, leucine and isoleucine degradation beta-Alanine metabolism +5 more
		ABCA8	Unknown	29059683	GWAS catalog	ABC transporters ABC-family proteins mediated transport
		ABCC4	Unknown	17903305	GWAS catalog	Antifolate resistance ABC transporters cAMP signaling pathway +4 more
		ABCF1	Unknown	29059683	GWAS catalog	ABC-family proteins mediated transport
		ABHD8	Unknown	29058716 29059683 38741014	GWAS catalog	—
		ACBD5	Unknown	29059683	GWAS catalog	Peroxisomal lipid metabolism Class I peroxisomal membrane protein import
		ACIN1	Unknown	38538606	GWAS catalog	Nucleocytoplasmic transport mRNA surveillance pathway Spliceosome +1 more
		ACO1	Unknown	37340002	GWAS catalog	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		ACO2	Unknown	29059683	GWAS catalog	Citrate cycle (TCA cycle) Glyoxylate and dicarboxylate metabolism Metabolic pathways +4 more
		ADAM29	Unknown	23535729 25751625 29059683 32139696 32887889 34594039 37340002	GWAS catalog	—
		ADAM30	Unknown	29059683	GWAS catalog	Interaction With Cumulus Cells And The Zona Pellucida
		ADAMTS16	Unknown	23468962 40229280	GWAS catalog	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADARB2	Unknown	34981446	GWAS catalog	—
		ADCK1	Unknown	40229280	GWAS catalog	—
		ADCY3	Unknown	29059683 32139696 33037222	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADCY8	Unknown	29059683	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADCY9	Unknown	29058716 29059683	GWAS catalog	Purine metabolism Metabolic pathways Endocrine resistance +61 more
		ADD3	Unknown	34290314	GWAS catalog	Miscellaneous transport and binding events
		ADGRL2	Unknown	38254997	GWAS catalog	—
		ADSS1	Unknown	29059683 32139696	GWAS catalog	Purine metabolism Alanine, aspartate and glutamate metabolism Metabolic pathways +3 more
		AFAP1	Unknown	38538606	GWAS catalog	—
		CCDC170	Unknown	19219042 20453838 21263130 23535729 23535733 23544013 25327703 25751625 27117709 27354352 29058716 29059683 31757997 32139696 32514122 32887889 34018994 34290314 34594039 35414113 37340002 37851288 38538606 39789286 40465716	GWAS catalog	—
		DCAF12	Unknown	37340002	GWAS catalog	—
		ESR1	Unknown	19219042 22383897 22976474 23535733 23544013 25327703 25751625 27117709 27354352 29058716 29059683 31757997 32139696 32514122 32887889 34018994 34594039 35414113 35803233 37340002 37851288 38741014 39789286 40465716	GWAS catalog	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
		FGFR2	Unknown	17529967 17529973 19330030 20453838 20872241 21060860 21263130 22951594 23354978 23535729 23544012 24143190 24493630 25751625 25956309 27197191 27354352 29059683 31757997 32139696 32514122 32808324 32887889 34290314 34594039 35267	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more
		SIAH2	Unknown	22951594 31757997 32139696 32514122 34594039 37340002	GWAS catalog	Netrin-1 signaling Ub-specific processing proteases Amyloid fiber formation +1 more
		UBAP1	Unknown	37340002	GWAS catalog	Budding and maturation of HIV virion Membrane binding and targetting of GAG proteins Endosomal Sorting Complex Required For Transport (ESCRT) +1 more
FAMILIAL CANCER OF BREAST		BARD1	Causal	—	ClinVar	Homologous recombination HDR through Single Strand Annealing (SSA) HDR through Homologous Recombination (HRR) +11 more
		BRCA1	Causal	23867111 12938098 12569143 11139248 12373604 16793542 8640237 14983014 18285836 9609997 7894493 14684699 12023982 8776600 11149425 11241844 11301010 28319063 9971877 12442274 9150152 10399947 23108138 23242139 22241545 17287723 12442275 14722926 15026808	ClinVar	Platinum drug resistance Homologous recombination Fanconi anemia pathway +19 more
		BRCA2	Causal	9609997 11114888 7545954 8554067 10323242 14684699 11948477 25539919 20624954 16353168 15133502 8776600 12023982 12938098 7894493 25105795 18285836 7939630 12442275 11301010 22357538 15365993 10978364 15026808 14722926 28319063 23108138 24013206 17924331	ClinVar	Homologous recombination Fanconi anemia pathway Pathways in cancer +7 more
		CDH1	Causal	—	ClinVar	Rap1 signaling pathway Apelin signaling pathway Hippo signaling pathway +15 more
		PIK3CA	Causal	12938098 11241844 11149425 14983014 8640237 16793542 12373604 23867111 25619829 11301010 7894491 12454775 12442275 11139248 15365993 9654203 12145750 12569143 23108138 15172753 9971877 12442274 9150152 10399947 9609997 23242139 22241545 20700469 17924331	ClinVar	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PPM1D	Causal	8776600 15133502 20624954 10323242 8554067 7545954 9609997 11114888 21473589 8723683 16353168 8640237 14983014 11149425 11241844 11301010 15172753 12454775 10807537 12427738 9482581 28364669 17611497 14722926 7894491 9760198 25409685 15818573 21618645	ClinVar	p53 signaling pathway Transcriptional regulation by RUNX2
		RB1CC1	Causal	—	ClinVar	Autophagy - animal Longevity regulating pathway Alzheimer disease +5 more
		TP53	Causal	—	ClinVar	Endocrine resistance Platinum drug resistance MAPK signaling pathway +85 more
		ESR1	Unknown	—	ClinVar	Endocrine resistance Hormone signaling Estrogen signaling pathway +21 more
LUMINAL B BREAST CARCINOMA	MONDO_0021115	FGFR2	Unknown	38832928	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +26 more

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Breast cancer

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