Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	C5779964 MONDO:0100062	ANO4	Causal	—	Disgenet	Efferocytosis Stimuli-sensing channels
		ARHGEF15	Causal	—	Disgenet	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events
		BSCL2	Causal	—	Disgenet	—
		CACNA1E	Causal	—	ClinGen, Disgenet	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
		CACNA2D2	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CDKL5	Causal	—	Disgenet	—
		DNM1	Causal	—	ClinGen	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
		GNAO1	Causal	—	ClinGen, Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
		GOT2	Causal	—	Disgenet	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
		HCN1	Causal	—	Disgenet	GnRH secretion HCN channels
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNC2	Causal	—	ClinGen, Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNH5	Causal	—	Disgenet	Voltage gated Potassium channels
		KCNQ2	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		PIGP	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PIGQ	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		SCN1A	Causal	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN3A	Causal	—	ClinGen, Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	—	Disgenet	Phase 0 - rapid depolarisation
		SLC25A22	Causal	—	ClinGen, Disgenet	Organic anion transporters
		SNAP25	Causal	—	Disgenet	Synaptic vesicle cycle Insulin secretion Serotonin Neurotransmitter Release Cycle +10 more
		SPTAN1	Causal	—	ClinGen, Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		ST3GAL3	Causal	—	Disgenet	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
		STXBP1	Causal	—	ClinGen, Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
		UBA5	Causal	—	Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100	619777 C5676932 MONDO:0030695	FBXO28	Causal	33280099 30160831 37543484	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101	619814 C5676955 MONDO:0030727	GRIN1	Causal	26350515 27164704 28051072 34611970 35393335	ClinVar, Disgenet, GWAS catalog, HPO	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +20 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102	619881 C5676991 MONDO:0030881	SLC38A3	Causal	34605855	ClinVar, Disgenet, GenCC, HPO	Glutamatergic synapse GABAergic synapse Proximal tubule bicarbonate reclamation +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103	619913 C5677002 MONDO:0030957	KCNC2	Causal	—	ClinVar, Disgenet, GenCC, HPO	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104	619970 C5774183 MONDO:0031021	ATP6V0A1	Causal	30842224 28135719 33057194	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Lysosome +13 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM	619983 C5774190 MONDO:0031028	HID1	Causal	28600779 33999436	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 106	620028 C5774212 MONDO:0031052	UFSP2	Causal	26350515 33473208	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108	620115 C5774253 MONDO:0859314	MAST3	Causal	34185323	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109	620145 C5774263 MONDO:0859325	FZR1	Causal	31318984 34788397	ClinVar, Disgenet, HPO	Cell cycle Ubiquitin mediated proteolysis Progesterone-mediated oocyte maturation +11 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110	620149 C5774265 MONDO:0859327	CACNA2D1	Causal	25363768 28097321	ClinVar, Disgenet, HPO	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +7 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111	620504 C5882690 MONDO:0957780	DEPDC5	Causal	—	ClinVar, Disgenet, HPO	mTOR signaling pathway Amino acids regulate mTORC1
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112	620537 C5882700 MONDO:0957812	KCNH5	Causal	23647072 36307226	ClinVar, Disgenet, HPO	Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113	620772 C5935597 MONDO:0958330	SV2A	Causal	37985816	ClinVar, Disgenet, HPO	ECM-receptor interaction Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type A (BoNT/A) +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114	620774 C5935598 MONDO:0958331	SLC32A1	Causal	34038384 36073542	ClinVar, Disgenet, GWAS catalog, HPO	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115	620783 C5935604 MONDO:0968946	SNF8	Causal	38423010	ClinVar, Disgenet, HPO, Orphanet	Endocytosis Endosomal Sorting Complex Required For Transport (ESCRT) HCMV Late Events
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116	620806 C5935615 MONDO:0970945	GLUL	Causal	—	ClinVar, Disgenet, GenCC, HPO	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Glyoxylate and dicarboxylate metabolism +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 118	621250	TMEM63B	Causal	—	ClinVar	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B	619317 C5543353 MONDO:0030268	SCN1A	Causal	—	ClinVar, Disgenet, HPO	Dopaminergic synapse Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89	619124 C5436853 MONDO:0030856	GAD1	Causal	32282878 32705143	ClinVar, Disgenet, HPO	Alanine, aspartate and glutamate metabolism beta-Alanine metabolism Taurine and hypotaurine metabolism +6 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91	617711 C4540199 MONDO:0020630	PPP3CA	Causal	25260786 28942967 29432562 30455226 30951195 35753512	ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92	617829 C4693362 MONDO:0020631	GABRB2	Causal	25124326 27789573 29100083 30013074 33325057	ClinVar, Disgenet, GWAS catalog, HPO	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling Serotonergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93	618012 C4693934 MONDO:0020632	ATP6V1A	Causal	29668857 32045939	ClinVar, Disgenet, GWAS catalog, HPO	Oxidative phosphorylation Metabolic pathways Phagosome +12 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93	618012 C4693934 MONDO:0020632	ATP7B	Causal	—	Disgenet	Platinum drug resistance Mineral absorption Ion transport by P-type ATPases
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94	615369 C3809278 MONDO:0014150	CHD2	Causal	23708187 24207121 24614520 25672921 25783594 26262932 28910737 28960266 29529558 29740950 31677157 31993582 32170405 34609735 34713950 35222528 35386198 35627293 35774518 35774528 37873138 37877434 38125503	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96	619340 C5543446 MONDO:0023659	NSF	Causal	31675180	ClinVar, Disgenet, GWAS catalog, HPO	Synaptic vesicle cycle GABAergic synapse Vasopressin-regulated water reabsorption +6 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97	619561 C5561999 MONDO:0030453	CELF2	Causal	33131106	ClinVar, Disgenet, GWAS catalog, HPO	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98	619605 C5562017 MONDO:0030472	ATP1A2	Causal	160098521 27864847 28135719 30185235	ClinVar, Disgenet, GWAS catalog, HPO	cGMP-PKG signaling pathway cAMP signaling pathway Cardiac muscle contraction +18 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 11	MONDO:0013388	SCN2A	Causal	—	ClinVar, GenCC	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 13	MONDO:0013801	SCN8A	Causal	22365152 16236810 24352161 24874546 24888894 25239001 25568300 25725044 26235738 25799905 25951352 26235739 26252990 26553437 26677014 26933559 27210545 27659738 27875746 27900360 28084268 28676440 28702509 28923014 29121005 29128	ClinGen, ClinVar	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 15	MONDO:0014003	ST3GAL3	Causal	21907012 23252400 31584066	ClinVar, Disgenet	Various types of N-glycan biosynthesis Other types of O-glycan biosynthesis Mannose type O-glycan biosynthesis +8 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 17	MONDO:0014199	GNAO1	Causal	23993195	ClinVar, Disgenet	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 2	MONDO:0010396	CDKL5	Causal	—	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 24	MONDO:0014377	HCN1	Causal	24747641	ClinVar, Disgenet	GnRH secretion HCN channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 26	MONDO:0014477	KCNB1	Causal	25164438	ClinVar, GWAS catalog	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 3	MONDO:0012245	SLC25A22	Causal	—	ClinVar, GenCC	Organic anion transporters
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31A	MONDO:0014598	DNM1	Causal	17463283 25262651 26611353 26648591 27066543 27781031	CTD, ClinVar	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31B	MONDO:0957248	DNM1	Causal	34172529 36553519	ClinVar, Disgenet	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle +9 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 4	MONDO:0012812	STXBP1	Causal	19557857 18469812 32105008 31387522 31344879 30654231 29929108 29896790 29718889 29544889 29264391 28944233 27184330 27069701 26865513 26514728 26384463 26212315 25714420 25631041 25418441 24623842 24315539 24189369 24170257 24095	ClinVar, GenCC	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 44	MONDO:0014933	UBA5	Causal	27545674 27545681 28965491 29663568 29902590 30078785 71540702 771982	ClinVar, Disgenet	Antigen processing: Ubiquitination & Proteasome degradation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 5	MONDO:0013277	SPTAN1	Causal	20493457 22258530 29050398 34590414 36331550 22429196 22656320 29986434 30548380 32811770 33206935 33207363 33578420 35150594 35219564 35620303 35925050 36408834	ClinVar, GWAS catalog	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 55	MONDO:0033364	PIGP	Causal	28334793 31139695 38444886	ClinGen, ClinVar, Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 62	MONDO:0033371	SCN3A	Causal	26795593 29286531 29466837 29740860	ClinVar, Disgenet	Taste transduction Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 69	MONDO:0032657	CACNA1E	Causal	—	ClinVar, GenCC	MAPK signaling pathway Calcium signaling pathway Type II diabetes mellitus +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 6A	MONDO:0100079	SCN1A	Causal	—	ClinVar, GenCC	Dopaminergic synapse Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 7	MONDO:0013387	KCNQ2	Causal	22275249 12742592 31951342 31418850 31199083 31152295 30530441 30107960 29687029 28832002 28728838 28687180 28631195 27861786 27602407 25880994 25566516 25092550 24371303 24107868 23774309 23692823 23621294 22926866 22169383 15249	ClinVar, GWAS catalog	Cholinergic synapse Voltage gated Potassium channels
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 77	MONDO:0032808	PIGQ	Causal	10373468 24463883 25558065 31148362 32588908 9463366 9729469	ClinGen, ClinVar, GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 82	MONDO:0032880	GOT2	Causal	28720665 31422819	ClinVar, GWAS catalog	Arginine biosynthesis Alanine, aspartate and glutamate metabolism Cysteine and methionine metabolism +13 more
EPILEPTIC ENCEPHALOPATHY	C0543888	ATP7B	Causal	—	Disgenet	Platinum drug resistance Mineral absorption Ion transport by P-type ATPases
		CACNA2D2	Causal	—	Disgenet	MAPK signaling pathway Cardiac muscle contraction Adrenergic signaling in cardiomyocytes +8 more
		CDKL5	Causal	—	Disgenet	—
		HCN1	Causal	—	Disgenet	GnRH secretion HCN channels
		KCNB1	Causal	—	Disgenet	Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
		KCNQ2	Causal	—	Disgenet	Cholinergic synapse Voltage gated Potassium channels
		PPP3CA	Causal	—	Disgenet	MAPK signaling pathway Calcium signaling pathway cGMP-PKG signaling pathway +34 more
		SCN1A	Causal	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN8A	Causal	—	Disgenet	Phase 0 - rapid depolarisation
		SPTAN1	Causal	—	Disgenet	Apoptosis Cytoskeleton in muscle cells Caspase-mediated cleavage of cytoskeletal proteins +5 more
		STXBP1	Causal	—	Disgenet	Synaptic vesicle cycle Serotonin Neurotransmitter Release Cycle Norepinephrine Neurotransmitter Release Cycle +4 more
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	GNAO1	Causal	23993195 25262651 25966631 26485252 27072799 27476654 28202424 28357411 28503590 28628939 28747448 29390993 9050846 9501252	GWAS catalog	Rap1 signaling pathway Hormone signaling Circadian entrainment +21 more
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	MONDO:0100062	SCN2A	Causal	23550958 23935176	Orphanet	Taste transduction Phase 0 - rapid depolarisation
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	MONDO:0018614	SCN8A	Causal	22365152 23708187	GWAS catalog	Phase 0 - rapid depolarisation

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Developmental and epileptic encephalopathy

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