Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPILEPSY	C0014544 MONDO:0005027 EFO_0000474 MESH:D004827	CP	Unknown	—	Disgenet	Porphyrin metabolism Ferroptosis Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +5 more
		CPA6	Unknown	—	ClinGen, Disgenet	—
		CRAMP1	Unknown	26220383	GWAS catalog	—
		CRH	Unknown	—	ClinGen, Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
		CUX2	Unknown	33913524	GWAS catalog	—
		CYTB	Unknown	—	Disgenet	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction +11 more
		DDX3X	Unknown	29942082	CTD, Disgenet	RIG-I-like receptor signaling pathway Hepatitis B Viral carcinogenesis +1 more
		DLG3	Unknown	—	Disgenet	Hippo signaling pathway Tight junction Human papillomavirus infection +5 more
		DNAJC5B	Unknown	26220383	GWAS catalog	Protein processing in endoplasmic reticulum
		DNAJC7	Unknown	—	Disgenet	Regulation of HSF1-mediated heat shock response
		DNM1	Unknown	29942082	CTD, Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		DYRK1A	Unknown	29942082	CTD, Disgenet	G0 and Early G1
		EEF1A2	Unknown	29942082	CTD, Disgenet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		EFHC1	Unknown	—	ClinGen, Disgenet	—
		EPHB1	Unknown	26220383	GWAS catalog	Axon guidance EPH-Ephrin signaling EPHB-mediated forward signaling +2 more
		ERN1	Unknown	19558813	CTD, Disgenet	Autophagy - animal Protein processing in endoplasmic reticulum Apoptosis +9 more
		EXT1	Unknown	34594039	GWAS catalog	Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways HS-GAG biosynthesis +2 more
		FCGR2A	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Platelet activation +14 more
		FCGR3A	Unknown	—	Disgenet	Phagosome Osteoclast differentiation Neutrophil extracellular trap formation +12 more
		FLNA	Unknown	11914408	CTD, Disgenet	MAPK signaling pathway Focal adhesion Salmonella infection +6 more
		FOLR1	Unknown	19732866	CTD, Disgenet	Antifolate resistance Endocytosis Folate transport and metabolism +3 more
		FOS	Unknown	15973680	CTD, Disgenet	Endocrine resistance MAPK signaling pathway cAMP signaling pathway +51 more
		FOSB	Unknown	16391389	CTD, Disgenet	Osteoclast differentiation IL-17 signaling pathway Cocaine addiction +4 more
		FOXG1	Unknown	29942082	CTD, Disgenet	FoxO signaling pathway FOXO-mediated transcription of cell cycle genes
		GABRA1	Unknown	23934111 24623842 25954001 26918889 27521439 28864462 30324621 31618474 32047208 34399161 34673242 37606373	ClinGen, Disgenet, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRA2	Unknown	25087078 30531953	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRB2	Unknown	29942082	CTD, Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GABRD	Unknown	15115768 16023832 29785705 29924869 33391346	ClinGen, Disgenet, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		GABRG1	Unknown	25087078	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		GABRG2	Unknown	11326274 12117362 23408872 27066572 27340224 27864268 28460589 31004928	ClinGen, ClinVar, Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		GBF1	Unknown	37653029	GWAS catalog	Endocytosis trans-Golgi Network Vesicle Budding VxPx cargo-targeting to cilium +2 more
		GDNF	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway PI3K-Akt signaling pathway +2 more
		GFAP	Unknown	21177194	CTD, Disgenet	JAK-STAT signaling pathway Nuclear signaling by ERBB4
		GFRA1	Unknown	26220383	GWAS catalog	RAF/MAP kinase cascade RET signaling
		GLS	Unknown	30531953	GWAS catalog	Arginine biosynthesis Alanine, aspartate and glutamate metabolism D-Amino acid metabolism +9 more
		GNAO1	Unknown	29942082	CTD, Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		GOLGA8H	Unknown	23962720	GWAS catalog	—
		GOLIM4	Unknown	25087078	GWAS catalog	Intra-Golgi traffic
		GPX1	Unknown	19499324	CTD, Disgenet	Glutathione metabolism Metabolic pathways Thyroid hormone synthesis +7 more
		GRIA1	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment +18 more
		GRM1	Unknown	19853022	CTD, Disgenet	Calcium signaling pathway FoxO signaling pathway Phospholipase D signaling pathway +13 more
		GRM3	Unknown	34456681	GWAS catalog	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Glutamatergic synapse +3 more
		GSTA4	Unknown	23962720	GWAS catalog	Glutathione metabolism Metabolism of xenobiotics by cytochrome P450 Drug metabolism - cytochrome P450 +10 more
		HACE1	Unknown	26220383	GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
		HCN1	Unknown	12890777	CTD, Disgenet	GnRH secretion HCN channels
		HCN2	Unknown	—	ClinGen	cAMP signaling pathway GnRH secretion HCN channels
		HDAC9	Unknown	26220383	GWAS catalog	Neutrophil extracellular trap formation Alcoholism Viral carcinogenesis +3 more
		HNRNPU	Unknown	29942082	CTD, Disgenet	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		HPS4	Unknown	34573423	GWAS catalog	RAB GEFs exchange GTP for GDP on RABs
		HTR1A	Unknown	34573423	GWAS catalog	cAMP signaling pathway Neuroactive ligand-receptor interaction Serotonergic synapse +3 more

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Epilepsy

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