Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
POLYCYSTIC OVARY SYNDROME	EFO_0000660 C0032460 MESH:D011085	CSMD1	Unknown	38408933	GWAS catalog	—
		CUX2	Unknown	35771237	GWAS catalog	—
		CYP19A1	Unknown	21262361 22381227 8265607 9177373	CTD, Disgenet	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +3 more
		CYP1A1	Unknown	—	Disgenet	Steroid hormone biosynthesis Tryptophan metabolism Retinol metabolism +12 more
		DAB1	Unknown	38408933	GWAS catalog	Spinocerebellar ataxia Reelin signalling pathway
		DACT3	Unknown	21411543	CTD, Disgenet	—
		DCBLD2	Unknown	21411543	CTD, Disgenet	—
		DDX54	Unknown	21411543	CTD, Disgenet	—
		DENND1A	Unknown	21151128 22885925 26284813 30566500 34791234 37544299 38408933 40069456	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		DEUP1	Unknown	38408933	GWAS catalog	—
		DLG4	Unknown	21411543	CTD, Disgenet	Hippo signaling pathway Glutamatergic synapse Huntington disease +10 more
		DMD	Unknown	21411543	CTD, Disgenet	Cytoskeleton in muscle cells Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy +3 more
		DNAL4	Unknown	38408933	GWAS catalog	Motor proteins Amyotrophic lateral sclerosis Huntington disease +2 more
		ELAVL3	Unknown	21411543	CTD, Disgenet	—
		EMSY	Unknown	21411543	CTD, Disgenet	—
		ERBB3	Unknown	26416764 30566500	GWAS catalog	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway ErbB signaling pathway +19 more
		ERBB4	Unknown	26416764 30566500 32289280 34791234 37544299 38408933 40069456	GWAS catalog	MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway +22 more
		ERRFI1	Unknown	21411543	CTD, Disgenet	—
		FAM124B	Unknown	38408933	GWAS catalog	—
		FBXO44	Unknown	21411543	CTD, Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		FGF18	Unknown	21411543	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +38 more
		FIGN	Unknown	32574161	GWAS catalog	—
		FLT4	Unknown	21411543	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +6 more
		FOXP3	Unknown	21411543	CTD, Disgenet	Th17 cell differentiation Inflammatory bowel disease RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) +1 more
		FSHR	Unknown	22885925	CTD, Disgenet, GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +4 more
		FST	Unknown	—	Disgenet	TGF-beta signaling pathway Antagonism of Activin by Follistatin
		FTO	Unknown	35771237	GWAS catalog	Reversal of alkylation damage by DNA dioxygenases
		FUT7	Unknown	21411543	CTD, Disgenet	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways Lewis blood group biosynthesis
		GAB1	Unknown	21411543	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance ErbB signaling pathway Ras signaling pathway +32 more
		GABRB1	Unknown	30343302	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GATA4	Unknown	26284813 30566500 35771237 38408933 40069456	GWAS catalog	cGMP-PKG signaling pathway Cellular senescence Tight junction +5 more
		GDF9	Unknown	22825968	CTD, Disgenet	Cytokine-cytokine receptor interaction
		GIPR	Unknown	35771237	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +3 more
		GNAS	Unknown	21411543	CTD, Disgenet	Endocrine resistance Rap1 signaling pathway Calcium signaling pathway +58 more
		GP1BB	Unknown	21411543	CTD, Disgenet	ECM-receptor interaction Platelet activation Hematopoietic cell lineage +4 more
		GSDMA	Unknown	38408933	GWAS catalog	—
		HACD1	Unknown	21411543	CTD, Disgenet	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +2 more
		HACD2	Unknown	38408933	GWAS catalog	Fatty acid elongation Biosynthesis of unsaturated fatty acids Metabolic pathways +2 more
		HELLS	Unknown	21411543	CTD, Disgenet	—
		HMGA2	Unknown	22885925	GWAS catalog	Transcriptional misregulation in cancer MicroRNAs in cancer Formation of Senescence-Associated Heterochromatin Foci (SAHF)
		HMMR	Unknown	21411543	CTD, Disgenet	ECM-receptor interaction Hyaluronan uptake and degradation AURKA Activation by TPX2
		HOOK3	Unknown	21411543	CTD, Disgenet	Motor proteins
		HSD3B1	Unknown	22381227	CTD, Disgenet	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +6 more
		HSD3B2	Unknown	22381227	CTD, Disgenet	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +6 more
		IKZF3	Unknown	30343302	GWAS catalog	—
		IL34	Unknown	21411543	CTD, Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Other interleukin signaling
		INS	Unknown	11889176 16123091 2777199	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +39 more
		INSR	Unknown	22885925	GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +26 more
		IQCC	Unknown	21411543	CTD, Disgenet	—
		IRF1	Unknown	26416764 30566500 38408933 40069456	GWAS catalog	C-type lectin receptor signaling pathway TNF signaling pathway Prolactin signaling pathway +5 more

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Polycystic ovary syndrome

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