Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPILEPSY	C0014544 MESH:D004827 EFO_0000474 MONDO:0005027	ALDH7A1	Causal	—	Disgenet	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		ANKRD11	Causal	29942082	CTD, Disgenet	—
		APTX	Causal	—	Disgenet	Base excision repair
		ATP1A2	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		ATP1A3	Causal	33762331 33880529	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		CHD2	Causal	23708187 29942082	CTD, Disgenet	—
		DEPDC5	Causal	—	Disgenet	mTOR signaling pathway Amino acids regulate mTORC1
		DIAPH1	Causal	—	Disgenet	Focal adhesion Regulation of actin cytoskeleton Cytoskeleton in muscle cells +5 more
		GABRB3	Causal	15878204 29942082	CTD, Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		GRIN2A	Causal	20890276 23933818	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
		GRIN2B	Causal	16407536 29942082	CTD, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNQ2	Causal	16464983 29942082	CTD, Disgenet	Cholinergic synapse Voltage gated Potassium channels
		MTR	Causal	—	Disgenet	Cysteine and methionine metabolism Selenocompound metabolism One carbon pool by folate +9 more
		NBEA	Causal	—	Disgenet	—
		NR4A2	Causal	—	Disgenet	Aldosterone synthesis and secretion Parathyroid hormone synthesis, secretion and action Nuclear Receptor transcription pathway
		OTUD6B	Causal	—	Disgenet	—
		PCDH19	Causal	18469813	CTD, Disgenet	—
		PIGQ	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		RORB	Causal	—	Disgenet	Circadian rhythm
		SCN1A	Causal	15805193 19694741 23708187 29942082 22949513 25087078 30531953 34456681 37653029	CTD, Disgenet, GWAS catalog	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	16464983 23708187 29942082	CTD, Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN3A	Causal	32515017 34081427 30146301	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	23708187 29942082	CTD, Disgenet	Phase 0 - rapid depolarisation
		SETD1B	Causal	—	Disgenet	Lysine degradation Metabolic pathways PKMTs methylate histone lysines +1 more
		SLC2A1	Causal	—	Disgenet	HIF-1 signaling pathway Efferocytosis Insulin secretion +15 more
		SYN1	Causal	—	Disgenet	Serotonin Neurotransmitter Release Cycle Dopamine Neurotransmitter Release Cycle
		TANC2	Causal	—	Disgenet	—
		ABCB1	Unknown	19570321 8001500	CTD, Disgenet	ABC transporters Bile secretion MicroRNAs in cancer +2 more
		ABCC9	Unknown	40465716	GWAS catalog	ABC transporters ATP sensitive Potassium channels ABC-family proteins mediated transport +2 more
		ABRA	Unknown	26220383	GWAS catalog	—
		ACHE	Unknown	—	Disgenet	Glycerophospholipid metabolism Cholinergic synapse Neurotransmitter clearance +2 more
		ACMSD	Unknown	—	Disgenet, GenCC	Tryptophan metabolism Metabolic pathways
		ADAM29	Unknown	23962720	GWAS catalog	—
		ADGRL3	Unknown	34594039	GWAS catalog	—
		ADRA1A	Unknown	26220383	GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction +8 more
		ADRA2A	Unknown	17341653	CTD, Disgenet	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
		ADRA2B	Unknown	—	ClinGen, Disgenet	cGMP-PKG signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +4 more
		AGBL2	Unknown	—	Disgenet, GenCC	—
		AKT1	Unknown	20064661	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance +131 more
		ALB	Unknown	15356194 17121744	CTD, Disgenet	Thyroid hormone synthesis Platelet degranulation Recycling of bile acids and salts +7 more
		ALDH2	Unknown	33913524	GWAS catalog	Glycolysis / Gluconeogenesis Ascorbate and aldarate metabolism Fatty acid degradation +14 more
		ALG13	Unknown	29942082	CTD	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
		APBA2	Unknown	—	Disgenet, GenCC	—
		ARHGEF9	Unknown	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events +1 more
		ARID1B	Unknown	29942082	CTD, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		ASXL3	Unknown	29942082	CTD, Disgenet	Polycomb repressive complex
		ATP8A2	Unknown	—	Disgenet	Efferocytosis Ion transport by P-type ATPases
		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
		GABRD	Unknown	15115768 16023832 29785705 29924869 33391346	ClinGen, Disgenet, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
IDIOPATHIC GENERALIZED EPILEPSY	C0270850	ABCB1	Causal	—	Disgenet	ABC transporters Bile secretion MicroRNAs in cancer +2 more
		GABRA1	Causal	—	Disgenet, ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRD	Causal	—	Disgenet, ClinGen	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more

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Epilepsy

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