Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25	C4014621	SLC13A5	Unknown	—	Disgenet	Sodium-coupled sulphate, di- and tri-carboxylate transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA	615905 OMIM:615905	SLC13A5	Unknown	—	CTD, HPO	Sodium-coupled sulphate, di- and tri-carboxylate transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26	616056 C4015119 OMIM:616056	KCNB1	Unknown	—	CTD, Disgenet, HPO	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27	616139 OMIM:616139	GRIN2B	Unknown	—	CTD, HPO	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29	616339 C4225361 OMIM:616339	AARS1	Unknown	—	CTD, Disgenet, HPO	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3	609304	SLC25A22	Unknown	—	HPO	Organic anion transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	616341 C4225360 OMIM:616341	SIK1	Unknown	—	CTD, Disgenet, HPO	Glucagon signaling pathway
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31	C4225357	CIZ1	Unknown	—	Disgenet	—
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		MBD5	Unknown	—	Disgenet	Polycomb repressive complex UCH proteinases
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A	616346 OMIM:616346	DNM1	Unknown	—	CTD, HPO	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	C5830459 620352	CIZ1	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	C5830459 620352	DNM1	Unknown	—	Disgenet, HPO	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33	616409 C4225337 OMIM:616409	EEF1A2	Unknown	—	CTD, Disgenet, HPO	Nucleocytoplasmic transport Legionellosis Leishmaniasis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38	617020 C4310762 OMIM:617020	ARV1	Unknown	—	CTD, Disgenet, HPO	Cholesterol biosynthesis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY	612949	SLC25A12	Unknown	—	HPO	Gluconeogenesis Aspartate and asparagine metabolism
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4	612164	STXBP1	Unknown	—	HPO	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40	617065 C4310737 OMIM:617065	GUF1	Unknown	—	CTD, Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41	617105 C4310717 OMIM:617105	SLC1A2	Unknown	—	CTD, Disgenet, HPO	Synaptic vesicle cycle Glutamatergic synapse Amyotrophic lateral sclerosis +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42	617106 C4310716 OMIM:617106	CACNA1A	Unknown	—	CTD, Disgenet, HPO	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44	C4310700 617132 OMIM:617132	ACAD11	Unknown	—	Disgenet	Mitochondrial Fatty Acid Beta-Oxidation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44	C4310700 617132 OMIM:617132	UBA5	Unknown	—	CTD, Disgenet, HPO	Antigen processing: Ubiquitination & Proteasome degradation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46	617162 C4310687 OMIM:617162	GRIN2D	Unknown	—	CTD, Disgenet, HPO	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +16 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48	617276 C4310637 OMIM:617276	AP3B2	Unknown	—	CTD, Disgenet, HPO	Lysosome
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49	617281 C4310635 OMIM:617281	DENND5A	Unknown	—	CTD, Disgenet, HPO	RAB GEFs exchange GTP for GDP on RABs
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5	613477 C3150731 OMIM:613477	SPTAN1	Unknown	—	CTD, Disgenet, HPO	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50	616457 OMIM:616457	CAD	Unknown	—	CTD, HPO	Arginine biosynthesis Pyrimidine metabolism Alanine, aspartate and glutamate metabolism +3 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51	617339 C4479208 OMIM:617339	MDH2	Unknown	—	CTD, Disgenet, HPO	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	C4479236	CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54	617391 C4479319 OMIM:617391	HNRNPU	Unknown	—	CTD, Disgenet, HPO	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55	617599 C4539843	PIGP	Unknown	—	Disgenet, HPO	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56	617665 C4540034	YWHAG	Unknown	—	Disgenet, HPO	Cell cycle Oocyte meiosis PI3K-Akt signaling pathway +15 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57	617771 C4540411	KCNT2	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58	617830	NTRK2	Unknown	—	HPO	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +6 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59	617904 C4693550	GABBR2	Unknown	—	Disgenet, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60	617929 C4693663	CNPY3	Unknown	—	Disgenet, HPO	Trafficking and processing of endosomal TLR
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60	617929 C4693663	CNPY3-GNMT	Unknown	—	Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61	617933 C4693688	ADAM22	Unknown	—	Disgenet, HPO	LGI-ADAM interactions
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62	617938 C4693699	SCN3A	Unknown	—	Disgenet, HPO	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63	617976 C4693810	CPLX1	Unknown	—	Disgenet, HPO	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	618004 C4693899	RHOBTB2	Unknown	—	Disgenet, HPO	Ubiquitin mediated proteolysis Rho GTPase cycle
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65	618008 C4693925	CYFIP2	Unknown	—	Disgenet, HPO	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66	C4748070	BRF1	Unknown	—	Disgenet	RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68	618201 C4748688	TRAK1	Unknown	—	Disgenet, HPO	Signaling by BRAF and RAF fusions
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69	618285 C4748988	CACNA1E	Unknown	—	Disgenet, HPO	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7	613720 OMIM:613720	KCNQ2	Unknown	—	CTD, HPO	Cholinergic synapse Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	618298 C4749023	PHACTR1	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	618298 C4749023	TBC1D7-LOC100130357	Unknown	—	Disgenet	mTOR signaling pathway TBC/RABGAPs
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71	618328	GLS	Unknown	—	HPO	Arginine biosynthesis Alanine, aspartate and glutamate metabolism D-Amino acid metabolism +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72	618374 C5193063	NEUROD2	Unknown	—	Disgenet, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73	618379	RNF13	Unknown	—	HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74	618396 C5193074	GABRG2	Unknown	—	Disgenet, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75	618437 C5193099	PARS2	Unknown	—	Disgenet, HPO	Aminoacyl-tRNA biosynthesis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76	618468	ACTL6B	Unknown	—	HPO	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78	C5231409	YY1	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Polycomb repressive complex UCH proteinases +3 more
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	1934	CACNA1E	Unknown	30343943	Orphanet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		NEUROD2	Unknown	30323019	Orphanet	—
		PIGP	Unknown	28334793	Orphanet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		RHOBTB2	Unknown	29276004 39831600	Orphanet	Ubiquitin mediated proteolysis Rho GTPase cycle
		SIK1	Unknown	25839329	Orphanet	Glucagon signaling pathway
		SLC25A22	Unknown	19780765	Orphanet	Organic anion transporters
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	C0393706	CACNA1E	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		NEUROD2	Unknown	—	Disgenet	—
		PIGP	Unknown	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN3A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SIK1	Unknown	—	Disgenet	Glucagon signaling pathway
		SLC25A22	Unknown	—	Disgenet	Organic anion transporters
		SPTAN1	Unknown	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
EPILEPTIC ENCEPHALOPATHY	C0543888	CIZ1	Unknown	—	Disgenet	—
		DNM1	Unknown	—	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		GRIN2B	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION	353217 C4512050	SLC25A12	Unknown	19641205	Disgenet, Orphanet	Gluconeogenesis Aspartate and asparagine metabolism
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	C3463992	CACNA1A	Unknown	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		MDH2	Unknown	—	Disgenet	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism +5 more
		SLC25A12	Unknown	—	Disgenet	Gluconeogenesis Aspartate and asparagine metabolism
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27	C4015316	GRIN2B	Unknown	—	Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3	C5574665 MESH:C562695	SLC25A22	Unknown	—	CTD, Disgenet	Organic anion transporters
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4	C2677326 MESH:C567404	STXBP1	Unknown	—	CTD, Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	C4693367	NTRK2	Unknown	—	Disgenet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +6 more
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7	C3150986	KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76	C5193113	ACTL6B	Unknown	—	Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	CACNA1E	Unknown	30343943 33776624 34702355	Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		DNM1	Unknown	20700442 25262651 26125563 26611353 26648591 26795593 27066543 28667181 29397573 29427836 29588952 31920647 34386584 8101525	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		NEUROD2	Unknown	30323019	GWAS catalog	—
		PIGP	Unknown	28334793	GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN3A	Unknown	10842222 18242854 27848944 28235671 29466837 30146301 32227486	GWAS catalog	Taste transduction Phase 0 - rapid depolarisation
		SIK1	Unknown	25839329 27966542 35267137	CTD, ClinGen	Glucagon signaling pathway
		SLC25A22	Unknown	11897791 15592994 17847082 19780765 24596948 25033742 27652284 28255779 28454995 28620281 31054490 31285529	GWAS catalog	Organic anion transporters
		SPTAN1	Unknown	20493457 26077850 29050398 29337302	CTD	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Unknown	10657302 18469812 18703708 26280581 26918652 8108429 9545644	GWAS catalog	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		UBA5	Unknown	27545674 27545681 29902590 30078785 33811063 40217280	ClinGen, GWAS catalog	Antigen processing: Ubiquitination & Proteasome degradation
KCNQ2-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	439218	KCNQ2	Unknown	20437616 23621294	Orphanet	Cholinergic synapse Voltage gated Potassium channels
KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY	C4755256	KCNQ2	Unknown	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
NEONATAL-ONSET DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100455	KCNQ2	Unknown	22275249 23440208 23621294 24107868 24318194 34911751	ClinGen, Disgenet	Cholinergic synapse Voltage gated Potassium channels
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	442835 C5680057	AARS1	Unknown	25817015	Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		ACTL6B	Unknown	31031012	Disgenet, Orphanet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		AP3B2	Unknown	27889060	Disgenet, Orphanet	Lysosome
		CACNA1A	Unknown	27476654	Disgenet, Orphanet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CYFIP2	Unknown	29534297	Disgenet, Orphanet	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
		DNM1	Unknown	25262651 25533962	Disgenet, Orphanet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		EEF1A2	Unknown	23647072	Disgenet, Orphanet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		GABBR2	Unknown	25262651	Disgenet, Orphanet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GABRG2	Unknown	27864268	Disgenet, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		GRIN2D	Unknown	27616483	Disgenet, Orphanet	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +16 more
		KCNB1	Unknown	25164438	Disgenet, Orphanet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		NTRK2	Unknown	29100083	Disgenet, Orphanet	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +6 more
		PARS2	Unknown	29915213	Disgenet, Orphanet	Aminoacyl-tRNA biosynthesis
		SCN3A	Unknown	29466837	Disgenet, Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SLC13A5	Unknown	24995870	Disgenet, Orphanet	Sodium-coupled sulphate, di- and tri-carboxylate transporters
		SLC1A2	Unknown	27476654 28777935	Disgenet, Orphanet	Synaptic vesicle cycle Glutamatergic synapse Amyotrophic lateral sclerosis +4 more
		STXBP1	Unknown	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		TRAK1	Unknown	28364549	Disgenet, Orphanet	Signaling by BRAF and RAF fusions
		UBA5	Unknown	27545674 27545681	Disgenet, Orphanet	Antigen processing: Ubiquitination & Proteasome degradation
		YWHAG	Unknown	28777935	Disgenet, Orphanet	Cell cycle Oocyte meiosis PI3K-Akt signaling pathway +15 more
RNF13-RELATED SEVERE EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	544503 C5193065	RNF13	Unknown	30595371	Disgenet, Orphanet	—
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	AARS1	Unknown	25817015 28493438 34446925	GWAS catalog	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
		ACTL6B	Unknown	31031012	CTD	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
		AP3B2	Unknown	27889060	GWAS catalog	Lysosome
		CACNA1A	Unknown	25613900 25735478 26739101 27212419 27476654 30600012 31468518 33425808	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		CYFIP2	Unknown	29534297	GWAS catalog	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
		DNM1	Unknown	25262651 25533962	Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		EEF1A2	Unknown	23647072	GWAS catalog	Nucleocytoplasmic transport Legionellosis Leishmaniasis
		GABRG2	Unknown	27864268	GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		GRIN2D	Unknown	27616483	GWAS catalog	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +16 more
		KCNB1	Unknown	25164438	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNQ2	Unknown	15608631 20437616 22275249 23440208 23621294 25954001 26007637 28100740	GWAS catalog	Cholinergic synapse Voltage gated Potassium channels
		NTRK2	Unknown	29100083	GWAS catalog	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +6 more
		PARS2	Unknown	29915213	CTD	Aminoacyl-tRNA biosynthesis
		SCN3A	Unknown	29466837	CTD	Taste transduction Phase 0 - rapid depolarisation
		SLC1A2	Unknown	27476654 28777935	GWAS catalog	Synaptic vesicle cycle Glutamatergic synapse Amyotrophic lateral sclerosis +4 more
		STXBP1	Unknown	26865513	ClinVar	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		TRAK1	Unknown	28364549	Disgenet	Signaling by BRAF and RAF fusions
		UBA5	Unknown	27545674 27545681	Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
		YWHAG	Unknown	28777935	GWAS catalog	Cell cycle Oocyte meiosis PI3K-Akt signaling pathway +15 more

«‹123 4 ›»

Developmental and epileptic encephalopathy

Bookmark This Disease