Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
BREAST CANCER	MONDO_0007254 114480	RTKN2	Unknown	29059683	GWAS catalog	—
		RYBP	Unknown	38254997	GWAS catalog	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Transcriptional Regulation by E2F6
		RYR3	Unknown	38538606	GWAS catalog	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 more
		SATB1	Unknown	29059683	GWAS catalog	Apoptotic cleavage of cellular proteins SUMOylation of chromatin organization proteins
		SBF2	Unknown	29059683	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		SCAMP2	Unknown	29059683 34234117	GWAS catalog	—
		SCAND3	Unknown	29059683	GWAS catalog	—
		SCFD2	Unknown	29059683	GWAS catalog	—
		SCGN	Unknown	29059683	GWAS catalog	—
		SEC14L4	Unknown	29059683	GWAS catalog	—
		SEC14L6	Unknown	29059683	GWAS catalog	—
		SEC16B	Unknown	29059683	GWAS catalog	COPII-mediated vesicle transport
		SEMA4A	Unknown	29059683 32424353	GWAS catalog	Axon guidance Other semaphorin interactions
		SEMA6B	Unknown	38538606	GWAS catalog	Axon guidance
		SEMA6D	Unknown	37380357	GWAS catalog	Axon guidance Other semaphorin interactions
		SETBP1	Unknown	25751625 29059683 31757997 32139696	GWAS catalog	—
		SETD9	Unknown	24493630 38538606	GWAS catalog	Regulation of TP53 Activity through Methylation
		SGCD	Unknown	38538606	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SGSM3	Unknown	38538606	GWAS catalog	—
		SH3GL1	Unknown	37380357	GWAS catalog	Endocytosis EGFR downregulation Negative regulation of MET activity +2 more
		SH3TC2	Unknown	29059683	GWAS catalog	—
		SHANK1	Unknown	34018994	GWAS catalog	Glutamatergic synapse Neurexins and neuroligins
		SHISAL1	Unknown	29059683	GWAS catalog	—
		SHLD1	Unknown	29059683	GWAS catalog	—
		SIK2	Unknown	29059683	GWAS catalog	Glucagon signaling pathway
		SIK3	Unknown	29059683	GWAS catalog	—
		SIN3A	Unknown	34234117	GWAS catalog	TGF-beta signaling pathway Thyroid hormone signaling pathway Huntington disease +7 more
		SIPA1L2	Unknown	38501904	GWAS catalog	Rap1 signaling pathway
		SKIDA1	Unknown	34594039 38538606	GWAS catalog	—
		SLC12A2	Unknown	29059683	GWAS catalog	Salivary secretion Pancreatic secretion Vibrio cholerae infection +1 more
		SLC12A3	Unknown	29059683	GWAS catalog	Parathyroid hormone synthesis, secretion and action Cation-coupled Chloride cotransporters Defective SLC12A3 causes Gitelman syndrome (GS)
		SLC14A2	Unknown	29059683 32139696 32424353 32514122 34594039 37380357	GWAS catalog	Transport of bile salts and organic acids, metal ions and amine compounds
		SLC17A3	Unknown	29059683	GWAS catalog	Stimuli-sensing channels
		SLC22A4	Unknown	29059683 32424353	GWAS catalog	Choline metabolism in cancer Organic cation transport
		SLC24A2	Unknown	38538606	GWAS catalog	Sodium/Calcium exchangers
		SLC25A21	Unknown	29059683 34290314	GWAS catalog	Lysine catabolism
		SLC25A44	Unknown	29059683 32424353	GWAS catalog	—
		SLC30A8	Unknown	29059683	GWAS catalog	Insulin processing Zinc efflux and compartmentalization by the SLC30 family
		SLC35E3	Unknown	37340002	GWAS catalog	—
		SLC4A7	Unknown	19330027 20453838 21263130 23535729 25751625 29059683 32139696 37340002 37380357 38538606	GWAS catalog	Bicarbonate transporters
		SLC67A1	Unknown	—	HPO	—
		SLC6A15	Unknown	29059683 32139696	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters
		SLC6A18	Unknown	38538606	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
		SLC6A3	Unknown	29059683	GWAS catalog	Synaptic vesicle cycle Dopaminergic synapse Parkinson disease +7 more
		SLC6A9	Unknown	39753771	GWAS catalog	Synaptic vesicle cycle Na+/Cl- dependent neurotransmitter transporters
		SLC7A1	Unknown	29059683	GWAS catalog	MicroRNAs in cancer Amino acid transport across the plasma membrane
		SMAD3	Unknown	29059683	GWAS catalog	FoxO signaling pathway Cell cycle Endocytosis +34 more
		SMC2	Unknown	29059683 32424353 36819030	GWAS catalog	Condensation of Prophase Chromosomes Condensation of Prometaphase Chromosomes
		SMG6	Unknown	29059683	GWAS catalog	mRNA surveillance pathway Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
		SMIM38	Unknown	29059683	GWAS catalog	—
BREAST CARCINOMA	EFO_0000305	RTKN2	Unknown	29059683	GWAS catalog	—
		RYBP	Unknown	38254997	GWAS catalog	Polycomb repressive complex RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Transcriptional Regulation by E2F6
		RYR3	Unknown	38538606	GWAS catalog	Calcium signaling pathway Apelin signaling pathway Circadian entrainment +8 more
		SATB1	Unknown	29059683	GWAS catalog	Apoptotic cleavage of cellular proteins SUMOylation of chromatin organization proteins
		SBF2	Unknown	29059683	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		SCAMP2	Unknown	29059683 34234117	GWAS catalog	—
		SCAND3	Unknown	29059683	GWAS catalog	—
		SCFD2	Unknown	29059683	GWAS catalog	—
		SCGN	Unknown	29059683	GWAS catalog	—
		SEC14L4	Unknown	29059683	GWAS catalog	—
		SEC14L6	Unknown	29059683	GWAS catalog	—
		SEC16B	Unknown	29059683	GWAS catalog	COPII-mediated vesicle transport
		SEMA4A	Unknown	29059683 32424353	GWAS catalog	Axon guidance Other semaphorin interactions
		SEMA6B	Unknown	38538606	GWAS catalog	Axon guidance
		SEMA6D	Unknown	24785509	GWAS catalog	Axon guidance Other semaphorin interactions
		SETBP1	Unknown	25751625 29059683 31757997 32139696	GWAS catalog	—
		SETD9	Unknown	24493630 38538606	GWAS catalog	Regulation of TP53 Activity through Methylation
		SGCD	Unknown	38538606	GWAS catalog	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +2 more
		SGSM3	Unknown	38538606	GWAS catalog	—
		SH3TC2	Unknown	29059683	GWAS catalog	—
		SHANK1	Unknown	34018994	GWAS catalog	Glutamatergic synapse Neurexins and neuroligins
		SHISAL1	Unknown	29059683	GWAS catalog	—
		SHLD1	Unknown	29059683	GWAS catalog	—
		SIK2	Unknown	29059683	GWAS catalog	Glucagon signaling pathway
		SIK3	Unknown	29059683	GWAS catalog	—
		SIN3A	Unknown	34234117	GWAS catalog	TGF-beta signaling pathway Thyroid hormone signaling pathway Huntington disease +7 more
		SKIDA1	Unknown	34594039 38538606	GWAS catalog	—
		SLC12A2	Unknown	29059683	GWAS catalog	Salivary secretion Pancreatic secretion Vibrio cholerae infection +1 more
		SLC12A3	Unknown	29059683	GWAS catalog	Parathyroid hormone synthesis, secretion and action Cation-coupled Chloride cotransporters Defective SLC12A3 causes Gitelman syndrome (GS)
		SLC14A2	Unknown	29059683 32139696 32424353 32514122 34594039	GWAS catalog	Transport of bile salts and organic acids, metal ions and amine compounds
		SLC17A3	Unknown	29059683 37467357	GWAS catalog	Stimuli-sensing channels
		SLC22A4	Unknown	29059683 32424353	GWAS catalog	Choline metabolism in cancer Organic cation transport
		SLC24A2	Unknown	38538606	GWAS catalog	Sodium/Calcium exchangers
		SLC25A21	Unknown	29059683 34290314	GWAS catalog	Lysine catabolism
		SLC25A44	Unknown	29059683 32424353	GWAS catalog	—
		SLC30A8	Unknown	29059683	GWAS catalog	Insulin processing Zinc efflux and compartmentalization by the SLC30 family
		SLC35E3	Unknown	37340002	GWAS catalog	—
		SLC4A7	Unknown	19330027 20453838 21263130 23535729 25751625 29059683 32139696 37340002 38538606	GWAS catalog	Bicarbonate transporters
		SLC6A15	Unknown	29059683 32139696	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters
		SLC6A18	Unknown	38538606	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria
		SLC6A3	Unknown	29059683	GWAS catalog	Synaptic vesicle cycle Dopaminergic synapse Parkinson disease +7 more
		SLC6A9	Unknown	39753771	GWAS catalog	Synaptic vesicle cycle Na+/Cl- dependent neurotransmitter transporters
		SLC7A1	Unknown	29059683	GWAS catalog	MicroRNAs in cancer Amino acid transport across the plasma membrane
		SMAD3	Unknown	29059683	GWAS catalog	FoxO signaling pathway Cell cycle Endocytosis +34 more
		SMC2	Unknown	29059683 32424353 34290314	GWAS catalog	Condensation of Prophase Chromosomes Condensation of Prometaphase Chromosomes
		SMG6	Unknown	29059683	GWAS catalog	mRNA surveillance pathway Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
		SMIM38	Unknown	27197191 27432226 29059683 32887889	GWAS catalog	—
FAMILIAL CANCER OF BREAST		SLC67A1	Unknown	—	ClinVar	—
LUMINAL A BREAST CARCINOMA	MONDO_0021116	SLC12A3	Unknown	37851288	GWAS catalog	Parathyroid hormone synthesis, secretion and action Cation-coupled Chloride cotransporters Defective SLC12A3 causes Gitelman syndrome (GS)
LUMINAL A BREAST CARCINOMA	MONDO_0021116	SLC6A18	Unknown	38832928	GWAS catalog	Amino acid transport across the plasma membrane Na+/Cl- dependent neurotransmitter transporters Defective SLC6A18 may confer susceptibility to iminoglycinuria and/or hyperglycinuria

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