Epilepsy | Gene-Disease Associations & Pathways | GeDiPNet

GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
EPILEPSY	C0014544 MESH:D004827 EFO_0000474	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	—
IDIOPATHIC GENERALIZED EPILEPSY	C0270850	ABCB1	Causal	—	Disgenet	ABC transporters Bile secretion MicroRNAs in cancer +2 more
		ADGRV1	Causal	—	Disgenet	—
		CACNA1H	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Circadian entrainment +4 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
		KCNIP1	Causal	—	Disgenet	Phase 1 - inactivation of fast Na+ channels