Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BREAST CANCER	MONDO_0007254 114480 MONDO:0007254	PALB2	Unknown	34290314 34594039	GWAS catalog	Homologous recombination Fanconi anemia pathway HDR through Homologous Recombination (HRR) +3 more
		PARP8	Unknown	29059683 32139696	GWAS catalog	Nicotinamide salvaging
		PAX5	Unknown	37380357	GWAS catalog	Transcriptional misregulation in cancer RUNX1 regulates transcription of genes involved in BCR signaling
		PAX9	Unknown	23535729 25751625 29059683 32139696 32887889 34594039 37340002	GWAS catalog	—
		PC	Unknown	37380357	GWAS catalog	Citrate cycle (TCA cycle) Pyruvate metabolism Metabolic pathways +5 more
		PCM1	Unknown	29059683 37340002	GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		PCMTD2	Unknown	29059683	GWAS catalog	—
		PCNT	Unknown	29059683 32424353	GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PCSK7	Unknown	29059683	GWAS catalog	—
		PDE4D	Unknown	23535729 25751625 29059683 32139696	GWAS catalog	Purine metabolism Metabolic pathways cAMP signaling pathway +4 more
		PDS5B	Unknown	29059683	GWAS catalog	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +2 more
		PDXK	Unknown	29059683	GWAS catalog	Vitamin B6 metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		PEX14	Unknown	23535729 23535733 25751625 27117709 29059683 32139696 34290314	GWAS catalog	Peroxisome E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import +1 more
		PFKFB4	Unknown	29059683	GWAS catalog	Fructose and mannose metabolism Metabolic pathways AMPK signaling pathway +1 more
		PHC2	Unknown	37380357	GWAS catalog	Polycomb repressive complex Oxidative Stress Induced Senescence SUMOylation of DNA damage response and repair proteins +5 more
		PHF20	Unknown	29059683	GWAS catalog	HATs acetylate histones Regulation of TP53 Degradation Regulation of TP53 Activity through Association with Co-factors +1 more
		PHGDH	Unknown	29059683	GWAS catalog	Glycine, serine and threonine metabolism Cysteine and methionine metabolism Metabolic pathways +3 more
		PHLDA3	Unknown	29059683 32887889	GWAS catalog	—
		PHLDB3	Unknown	29059683	GWAS catalog	—
		PIDD1	Unknown	29059683 32139696	GWAS catalog	NF-kappa B signaling pathway p53 signaling pathway Apoptosis +1 more
		PIK3CA	Unknown	—	HPO	Inositol phosphate metabolism Metabolic pathways EGFR tyrosine kinase inhibitor resistance +149 more
		PIK3R1	Unknown	29059683	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +150 more
		PIP4K2A	Unknown	29059683	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +5 more
		PIP4K2B	Unknown	39024449	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +5 more
		PITPNB	Unknown	29059683 38538606	GWAS catalog	PI and PC transport between ER and Golgi membranes
		PKD2	Unknown	29059683	GWAS catalog	VxPx cargo-targeting to cilium
		PKIB	Unknown	29059683	GWAS catalog	—
		PKLR	Unknown	29059683	GWAS catalog	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
		PLA2G4A	Unknown	29059683	GWAS catalog	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +33 more
		PLA2G6	Unknown	29059683 32139696	GWAS catalog	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
		PLCL2	Unknown	29059683 32424353	GWAS catalog	—
		PLCXD3	Unknown	38501904	GWAS catalog	—
		PLEKHM1	Unknown	37380357 37636041	GWAS catalog	Autophagy - animal Salmonella infection
		PLK2	Unknown	29059683	GWAS catalog	FoxO signaling pathway TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain CD163 mediating an anti-inflammatory response
		PLXNC1	Unknown	23468962	GWAS catalog	Axon guidance Other semaphorin interactions
		PMF1	Unknown	37636041	GWAS catalog	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +3 more
		PMF1-BGLAP	Unknown	37636041	GWAS catalog	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion +3 more
		PMM2	Unknown	38538606	GWAS catalog	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		PMS2	Unknown	—	GenCC	Mismatch repair Fanconi anemia pathway Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) +3 more
		POGLUT3	Unknown	29058716	GWAS catalog	—
		POLR2B	Unknown	29059683	GWAS catalog	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		POLR2J	Unknown	29059683	GWAS catalog	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		POM121L2	Unknown	29059683 36819030	GWAS catalog	Nucleocytoplasmic transport Amyotrophic lateral sclerosis
		POU5F1B	Unknown	17529967 20453838 21263130 23535729 24493630 25751625 29059683 32139696 32887889 34290314 34594039 37340002 38538606 39789286	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		PPA2	Unknown	29059683	GWAS catalog	Oxidative phosphorylation Mitochondrial tRNA aminoacylation Pyrophosphate hydrolysis
		PPM1D	Unknown	—	HPO	p53 signaling pathway Transcriptional regulation by RUNX2
		PPP1R18	Unknown	29059683	GWAS catalog	—
		PPP2R1B	Unknown	29059683 37340002	GWAS catalog	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +42 more
		PPP2R2B	Unknown	35121771	GWAS catalog	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
		PPP4R3A	Unknown	29059683	GWAS catalog	Glucagon signaling pathway
BREAST CARCINOMA	EFO_0000305	PARP8	Unknown	29059683 32139696	GWAS catalog	Nicotinamide salvaging
		PAX9	Unknown	23535729 25751625 29059683 32139696 32887889 34594039 37340002	GWAS catalog	—
		PCM1	Unknown	29059683 37340002	GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +4 more
		PCMTD2	Unknown	29059683	GWAS catalog	—
		PCNT	Unknown	29059683 32424353	GWAS catalog	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes +5 more
		PCSK7	Unknown	29059683	GWAS catalog	—
		PDE4D	Unknown	23535729 25751625 29059683 32139696	GWAS catalog	Purine metabolism Metabolic pathways cAMP signaling pathway +4 more
		PDS5B	Unknown	29059683	GWAS catalog	Cell cycle Separation of Sister Chromatids Establishment of Sister Chromatid Cohesion +2 more
		PDXK	Unknown	29059683	GWAS catalog	Vitamin B6 metabolism Metabolic pathways Biosynthesis of cofactors +2 more
		PEX14	Unknown	23535729 23535733 25751625 27117709 29058716 29059683 32139696 34290314	GWAS catalog	Peroxisome E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import +1 more
		PFKFB4	Unknown	29059683	GWAS catalog	Fructose and mannose metabolism Metabolic pathways AMPK signaling pathway +1 more
		PHF20	Unknown	29059683 34290314	GWAS catalog	HATs acetylate histones Regulation of TP53 Degradation Regulation of TP53 Activity through Association with Co-factors +1 more
		PHGDH	Unknown	29059683	GWAS catalog	Glycine, serine and threonine metabolism Cysteine and methionine metabolism Metabolic pathways +3 more
		PHLDA3	Unknown	29059683 32887889	GWAS catalog	—
		PHLDB3	Unknown	29059683	GWAS catalog	—
		PIDD1	Unknown	29059683 32139696	GWAS catalog	NF-kappa B signaling pathway p53 signaling pathway Apoptosis +1 more
		PIK3R1	Unknown	29059683	GWAS catalog	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +150 more
		PIP4K2A	Unknown	29059683	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +5 more
		PIP4K2B	Unknown	39024449	GWAS catalog	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +5 more
		PITPNB	Unknown	29059683 38538606	GWAS catalog	PI and PC transport between ER and Golgi membranes
		PKD2	Unknown	29059683	GWAS catalog	VxPx cargo-targeting to cilium
		PKIB	Unknown	29059683	GWAS catalog	—
		PKLR	Unknown	29059683	GWAS catalog	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways +7 more
		PLA2G4A	Unknown	29059683	GWAS catalog	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +33 more
		PLA2G6	Unknown	29059683 32139696 32887889	GWAS catalog	Glycerophospholipid metabolism Ether lipid metabolism Arachidonic acid metabolism +12 more
		PLCL2	Unknown	29059683 32424353	GWAS catalog	—
		PLK2	Unknown	29059683	GWAS catalog	FoxO signaling pathway TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain CD163 mediating an anti-inflammatory response
		PLXNC1	Unknown	23468962	GWAS catalog	Axon guidance Other semaphorin interactions
		PMM2	Unknown	38538606	GWAS catalog	Fructose and mannose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		POGLUT3	Unknown	29058716	GWAS catalog	—
		POLR2B	Unknown	29059683	GWAS catalog	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		POLR2J	Unknown	29059683	GWAS catalog	RNA polymerase Nucleotide excision repair Huntington disease +25 more
		POM121L2	Unknown	29059683	GWAS catalog	Nucleocytoplasmic transport Amyotrophic lateral sclerosis
		POU5F1B	Unknown	17529967 20453838 21263130 23535729 24493630 25751625 29058716 29059683 32139696 32887889 34290314 34594039 37340002 38538606 39789286	GWAS catalog	Signaling pathways regulating pluripotency of stem cells
		PPA2	Unknown	29059683	GWAS catalog	Oxidative phosphorylation Mitochondrial tRNA aminoacylation Pyrophosphate hydrolysis
		PPP1R18	Unknown	29059683	GWAS catalog	—
		PPP2R1B	Unknown	29059683 37340002	GWAS catalog	mRNA surveillance pathway Sphingolipid signaling pathway Cell cycle +42 more
		PPP2R2B	Unknown	35121771	GWAS catalog	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +9 more
		PPP4R3A	Unknown	29059683	GWAS catalog	Glucagon signaling pathway
LUMINAL A BREAST CARCINOMA	MONDO_0021116	POGLUT3	Unknown	38832928	GWAS catalog	—

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Breast cancer

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