Myoclonic 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
EPILEPSIES, MYOCLONIC	MESH:D004831	PMP22	Unknown	17275665	CTD	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		POMC	Unknown	6088243	CTD	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		RAPGEF2	Unknown	29507423	CTD	MAPK signaling pathway Rap1 signaling pathway Tight junction +1 more
		SAMD12	Unknown	29507423	CTD	—
		SCN1A	Unknown	12907273 19099883 21480876 29929108 30123852	CTD	Dopaminergic synapse Phase 0 - rapid depolarisation
		STXBP1	Unknown	18469812 29929108	CTD	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		TNRC6A	Unknown	29507423	CTD	Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Oncogene Induced Senescence +13 more
JUVENILE MYOCLONIC EPILEPSY	C0270853 307 MONDO:0009696 MONDO_0009696	CAPRIN1	Causal	—	Disgenet	—
		GABRA1	Causal	23756480	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		BRD2	Unknown	—	Disgenet	RUNX3 regulates p14-ARF
		CACNB4	Unknown	23756480	Disgenet, Orphanet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
		CHRNA1	Unknown	—	Disgenet	Virion - Ebolavirus, Lyssavirus and Morbillivirus Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors +1 more
		CILK1	Unknown	29539279	Disgenet, Orphanet	—
		CLCN2	Unknown	12612585 19191339 23756480	Disgenet, Orphanet	Mineral absorption Stimuli-sensing channels
		CTF1	Unknown	30531953 37653029	GWAS catalog	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway IL-6-type cytokine receptor ligand interactions
		EFHC1	Unknown	15258581 17159113 22926142 23756480 25961944 30311377 31019026 31056551	ClinVar, Disgenet, Orphanet	—
		GABRA2	Unknown	37653029	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRD	Unknown	23756480	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		HSD17B3	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Androgen biosynthesis +1 more
		JRK	Unknown	11463517	Disgenet, Orphanet	—
		KCNQ3	Unknown	12928862	Disgenet, Orphanet	Cholinergic synapse Voltage gated Potassium channels
		TMEM74	Unknown	37653029	GWAS catalog	—
MYOCLONIC EPILEPSY	C0014550	CHRNA2	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Highly calcium permeable postsynaptic nicotinic acetylcholine receptors Highly calcium permeable nicotinic acetylcholine receptors
		PMP22	Unknown	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		POMC	Unknown	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +18 more
		PRICKLE2	Unknown	—	Disgenet	Wnt signaling pathway
		RAPGEF2	Unknown	—	Disgenet	MAPK signaling pathway Rap1 signaling pathway Tight junction +1 more
		SAMD12	Unknown	—	Disgenet	—
		SCN1A	Unknown	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		TNRC6A	Unknown	—	Disgenet	Pre-NOTCH Transcription and Translation Oxidative Stress Induced Senescence Oncogene Induced Senescence +13 more