Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99	619606 C5562018 MONDO:0030473	ATP1A3	Causal	—	ClinVar, Disgenet, GenCC, HPO	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 1	MONDO:0010632	ARX	Causal	—	ClinVar	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 12	MONDO:0013389	PLCB1	Causal	20833646	CTD, ClinVar	Inositol phosphate metabolism Metabolic pathways Rap1 signaling pathway +67 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 14	MONDO:0013989	KCNT1	Causal	23086397 23086396	ClinVar, Disgenet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 16	MONDO:0014133	TBC1D24	Causal	25719194	CTD, ClinVar	TBC/RABGAPs
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 18	MONDO:0014201	SZT2	Causal	19624305 23932106 27248490 28199315 28556953 28893434	CTD, ClinVar	Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 19	MONDO:0014328	GABRA1	Causal	—	ClinVar, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 21	MONDO:0014360	NECAP1	Causal	24399846 30525121 30626896	ClinVar, GWAS catalog	Golgi Associated Vesicle Biogenesis Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 23	MONDO:0014371	DOCK7	Causal	24814191	ClinVar, Disgenet	MET activates RAP1 and RAC1 Factors involved in megakaryocyte development and platelet production
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 25	MONDO:0014392	SLC13A5	Causal	24995870 26384929	ClinVar, GWAS catalog	Sodium-coupled sulphate, di- and tri-carboxylate transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 27	MONDO:0014505	GRIN2B	Causal	23934111 31085877 30151416 28377535 27605359 24272827 35393335	ClinVar, Disgenet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +22 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 28	MONDO:0014533	WWOX	Causal	24456803	ClinVar, GWAS catalog	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 29	MONDO:0014593	AARS1	Causal	25817015 28493438 29858556 34446925	ClinGen, ClinVar, Disgenet	Aminoacyl-tRNA biosynthesis Cytosolic tRNA aminoacylation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 30	MONDO:0014595	SIK1	Causal	25839329	ClinVar, Disgenet	Glucagon signaling pathway
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 32	MONDO:0014607	KCNA2	Causal	25751627	CTD, ClinVar	Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 33	MONDO:0014625	EEF1A2	Causal	23033978 23647072 24697219 26682508 27441201 28378778 32160274 32196822 7078649 9539760	ClinVar, Disgenet	Nucleocytoplasmic transport Legionellosis Leishmaniasis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 34	MONDO:0014718	SLC12A5	Causal	11395011 12000122 15813942 16271048 26333769 27436767	ClinVar, GWAS catalog	GABAergic synapse Cation-coupled Chloride cotransporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 35	MONDO:0014719	ITPA	Causal	17304144 19498443 26224535 30816001	ClinVar, GWAS catalog	Purine metabolism Drug metabolism - other enzymes Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 36	MONDO:0010472	ALG13	Causal	—	ClinVar, GenCC	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 37	MONDO:0014859	FRRS1L	Causal	27236917 27239025	ClinVar, Orphanet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 38	MONDO:0014868	ARV1	Causal	25558065 27270415 27513193	ClinVar, Disgenet	Cholesterol biosynthesis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 39	MONDO:0013056	SLC25A12	Causal	19641205 20015484 24515575 26633542 27290639 31403263	ClinVar, GWAS catalog	Gluconeogenesis Aspartate and asparagine metabolism
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 40	MONDO:0014895	GUF1	Causal	18007604 26486472 30945278	ClinVar, GWAS catalog, ClinGen	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 41	MONDO:0014916	SLC1A2	Causal	1465194 23934111 25834045 27476654 28777935 30937933 9180080	ClinGen, ClinVar, GWAS catalog	Synaptic vesicle cycle Glutamatergic synapse Amyotrophic lateral sclerosis +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 42	MONDO:0014917	CACNA1A	Causal	20156848 21703448 22942164 25735478 25784583 26795593 27212419 27250579 27476654	ClinVar, Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 43	MONDO:0014921	GABRB3	Causal	—	ClinVar, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 45	MONDO:0014942	GABRB1	Causal	26950270 27273810 29186148 31618474 31780880	ClinVar, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 46	MONDO:0014947	GRIN2D	Causal	—	ClinVar, GenCC	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction +16 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 47	MONDO:0014949	FGF12	Causal	27830185 27872899 27164707	ClinVar, HPO	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 48	MONDO:0015000	AP3B2	Causal	27431290 27889060 29453418 31231135	ClinVar, GWAS catalog	Lysosome
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 49	MONDO:0015002	DENND5A	Causal	—	ClinVar, GenCC	RAB GEFs exchange GTP for GDP on RABs
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 50	MONDO:0014647	CAD	Causal	28007989 25678555	CTD, ClinGen, ClinVar	Arginine biosynthesis Pyrimidine metabolism Alanine, aspartate and glutamate metabolism +3 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 51	MONDO:0015025	MDH2	Causal	27989324	ClinVar, HPO	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 52	MONDO:0033361	SCN1B	Causal	19710327 23148524 28218389 31465153 31709768 33901312	ClinVar, GWAS catalog	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 53	MONDO:0033362	SYNJ1	Causal	10535736 25046240 25316601 27435091	ClinVar, Orphanet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 54	MONDO:0033363	HNRNPU	Causal	23934111 35138025 28393272 28815871 28944577 29858110 32319732 33914968 34012379 37120726 37407733 38171565	ClinVar, Disgenet	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 56	MONDO:0033365	YWHAG	Causal	20146335 26297819 27288018 28777935 31926053 33393734 33767733	ClinVar, Disgenet	Cell cycle Oocyte meiosis PI3K-Akt signaling pathway +15 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 57	MONDO:0033366	KCNT2	Causal	29069600 29740868	ClinVar, GWAS catalog	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 58	MONDO:0033367	NTRK2	Causal	29100083 29652976	CTD, ClinVar	MAPK signaling pathway Ras signaling pathway Calcium signaling pathway +6 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 59	MONDO:0033368	GABBR2	Causal	15240800 25262651 28856709 29100083 31780880 32860008 34055682 34088892 35414446	ClinVar, GenCC	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 60	MONDO:0033369	CNPY3	Causal	29394991	ClinVar, Orphanet	Trafficking and processing of endosomal TLR
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 61	MONDO:0033370	ADAM22	Causal	35373813	ClinVar, HPO, ClinGen	LGI-ADAM interactions
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 63	MONDO:0033372	CPLX1	Causal	11163241 26539891 28422131	ClinVar, GWAS catalog	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 64	MONDO:0033373	RHOBTB2	Causal	26740508 28856709 29276004 29768694 31780880 31957018 33619735 34489640 35231114 35586607 36672771	ClinVar, Disgenet	Ubiquitin mediated proteolysis Rho GTPase cycle
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 65	MONDO:0033374	CYFIP2	Causal	31689829 29667327 30664714 29534297	ClinVar, GWAS catalog	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 66	MONDO:0054845	PACS2	Causal	28628100 28867141 29656858 30684285 30904718 31036916 31231135 32416568 33243487 33369122 34405643 34894068 35770754 36645641 37189870	ClinVar, GWAS catalog	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 67	MONDO:0029138	CUX2	Causal	—	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 68	MONDO:0032598	TRAK1	Causal	28364549 28924745 28940097 29846532	ClinVar, HPO	Signaling by BRAF and RAF fusions
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 70	MONDO:0032663	PHACTR1	Causal	23033978 28135719 30256902	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 71	MONDO:0032678	GLS	Causal	—	ClinVar, GenCC	Arginine biosynthesis Alanine, aspartate and glutamate metabolism D-Amino acid metabolism +9 more
EPILEPTIC ENCEPHALOPATHY	C0543888	AP3B2	Causal	—	Disgenet	Lysosome
		ATP1A3	Causal	—	Disgenet	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
		CACNA1A	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway Synaptic vesicle cycle +15 more
		GABBR2	Causal	—	Disgenet	cAMP signaling pathway Neuroactive ligand-receptor interaction GABAergic synapse +9 more
		GABRA1	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
		GABRB3	Causal	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
		HNRNPU	Causal	—	Disgenet	Spliceosome mRNA Splicing - Major Pathway Processing of Capped Intron-Containing Pre-mRNA
		SLC13A5	Causal	—	Disgenet	Sodium-coupled sulphate, di- and tri-carboxylate transporters
		WWOX	Causal	—	Disgenet	Nuclear signaling by ERBB4 Negative regulation of activity of TFAP2 (AP-2) family transcription factors Activation of the TFAP2 (AP-2) family of transcription factors
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	SCN1B	Causal	15102918 19710327 23148524 28218389 31709768 33901312	CTD	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	SLC13A5	Causal	24995870	GenCC	Sodium-coupled sulphate, di- and tri-carboxylate transporters

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Developmental and epileptic encephalopathy

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