Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 72	MONDO:0032710	NEUROD2	Causal	16504944 25250690 30323019 31487502 36446697	CTD, ClinVar	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 73	MONDO:0034106	RNF13	Causal	30595371 37668308	ClinVar, Orphanet	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 74	MONDO:0032725	GABRG2	Causal	27864268 31004928	ClinVar, Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 75	MONDO:0032752	PARS2	Causal	25629079 27290639 28077841 29410512 29667327 29915213 30237576 31175295	CTD, ClinVar	Aminoacyl-tRNA biosynthesis
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 76	MONDO:0032768	ACTL6B	Causal	31031012 30656450	ClinVar, Disgenet	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma +2 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 78	MONDO:0032812	GABRA2	Causal	25124326 29422393 29961870 31032849 32347641	ClinVar, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 79	MONDO:0032813	GABRA5	Causal	27622563 27894106 29961870 30033060 31056671	ClinVar, GWAS catalog	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +4 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 8	MONDO:0010375	ARHGEF9	Causal	—	ClinVar, GenCC	NRAGE signals death through JNK Rho GTPase cycle G alpha (12/13) signalling events +1 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 80	MONDO:0032822	PIGB	Causal	22228761 28991257 31256876 34161862 34400385	ClinGen, ClinVar, GWAS catalog	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 81	MONDO:0032858	DMXL2	Causal	30237576 31688942	ClinVar, Disgenet	Lysosome
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 83	MONDO:0032895	UGP2	Causal	30552426 31820119	ClinVar, Disgenet	Pentose and glucuronate interconversions Galactose metabolism Starch and sucrose metabolism +7 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 84	MONDO:0032918	UGDH	Causal	—	ClinVar, GenCC	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Amino sugar and nucleotide sugar metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS	MONDO:0026771	SMC1A	Causal	31185419 31098032 28677859 28548707 28166369 26752331 26386245 26358754 32496272 33911395 35238682 35589488 35658367 35712061 37107610 38076278	ClinVar, GWAS catalog	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 87	MONDO:0030059	CDK19	Causal	20563892 32330417 33495529	ClinVar, GWAS catalog	PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 88	MONDO:0030072	MDH1	Causal	—	ClinVar, GenCC	Citrate cycle (TCA cycle) Cysteine and methionine metabolism Pyruvate metabolism +5 more
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 9	MONDO:0010246	PCDH19	Causal	—	ClinVar, GenCC	—
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 90	MONDO:0025353	FGF13	Causal	23373430 23603273 26063919 27502037 28446957 33245860	CTD, ClinVar	Phase 0 - rapid depolarisation
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY-107		NAPB	Causal	—	ClinVar	COPII-mediated vesicle transport COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic +2 more
EARLY-ONSET EPILEPTIC ENCEPHALOPATHY AND INTELLECTUAL DISABILITY DUE TO GRIN2A MUTATION	289266 C4749281 MONDO:0017325	GRIN2A	Causal	20890276	Disgenet, GWAS catalog, Orphanet	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway +19 more
EPILEPTIC ENCEPHALOPATHY	C0543888	ATP2B2	Causal	—	Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway cAMP signaling pathway +9 more
		CAPRIN1	Causal	—	Disgenet	—
		FOLR1	Causal	—	Disgenet	Antifolate resistance Endocytosis Folate transport and metabolism +3 more
		KCNA1	Causal	—	Disgenet	Voltage gated Potassium channels
		KCTD7	Causal	—	Disgenet	Neddylation Antigen processing: Ubiquitination & Proteasome degradation
		LARP7	Causal	—	Disgenet	—
		MEF2C	Causal	—	Disgenet	MAPK signaling pathway cGMP-PKG signaling pathway Apelin signaling pathway +7 more
		MTRFR	Causal	—	Disgenet	—
		OTUD7A	Causal	29395074 33381903 29395075 31997314 36180924	Disgenet	Ovarian tumor domain proteases
		PCDH19	Causal	—	Disgenet	—
		PHGDH	Causal	—	Disgenet	Glycine, serine and threonine metabolism Cysteine and methionine metabolism Metabolic pathways +3 more
		PIGA	Causal	—	Disgenet	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways Synthesis of glycosylphosphatidylinositol (GPI)
		PURA	Causal	—	Disgenet	—
		SLC35A2	Causal	—	Disgenet	Defective SLC35A2 causes congenital disorder of glycosylation 2M (CDG2M) Transport of nucleotide sugars
		SMC1A	Causal	—	Disgenet	Cell cycle Oocyte meiosis Separation of Sister Chromatids +5 more
		SOX5	Causal	—	Disgenet	—
		SP9	Causal	—	Disgenet	—
		STX1B	Causal	—	Disgenet	SNARE interactions in vesicular transport Synaptic vesicle cycle Toxicity of botulinum toxin type C (BoNT/C) +1 more
		SYNGAP1	Causal	—	Disgenet	Ras signaling pathway Regulation of RAS by GAPs
		TNK2	Causal	—	Disgenet	—
		TRIT1	Causal	—	Disgenet	Metabolic pathways tRNA modification in the mitochondrion
		UBE3A	Causal	—	Disgenet	Ubiquitin mediated proteolysis Human papillomavirus infection Viral carcinogenesis +1 more
		UGDH	Causal	—	Disgenet	Pentose and glucuronate interconversions Ascorbate and aldarate metabolism Amino sugar and nucleotide sugar metabolism +5 more
		USP19	Causal	—	Disgenet	Ub-specific processing proteases
		WASF1	Causal	—	Disgenet	Adherens junction Fc gamma R-mediated phagocytosis Regulation of actin cytoskeleton +8 more

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Developmental and epileptic encephalopathy

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