Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS	C3502809 MONDO:0018214	ANO4	Causal	—	Disgenet	Efferocytosis Stimuli-sensing channels
		SCN1A	Causal	10742094 11254444 11254445 11524484 11756608 12086636 12576172 14702334 17537961 19409490 24257433 25378155 25576396 28084635 28842445	ClinGen, Disgenet, GWAS catalog	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN2A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SCN9A	Causal	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
		SLC32A1	Causal	—	Disgenet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
		STX1B	Causal	25362483 27781031 30737342 32572454 32858780	ClinGen, Disgenet	SNARE interactions in vesicular transport Synaptic vesicle cycle Toxicity of botulinum toxin type C (BoNT/C) +1 more
		CPA6	Unknown	—	Disgenet	—
		FGF13	Unknown	—	Disgenet	Phase 0 - rapid depolarisation
		GABRG2	Unknown	—	Disgenet, GenCC	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		HCN1	Unknown	24747641 27864847 30351409 33822003 35359652 35972069	ClinGen, Disgenet, GWAS catalog	GnRH secretion HCN channels
		PRRT2	Unknown	—	Disgenet	—
		SCN1B	Unknown	12011299 14504340 17020904 19522081 20628201 23090990 28726809 30660056 31709768 31729702 31980526 35704740 35886038 9697698	ClinGen, Disgenet	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, 7	C2751778	SCN9A	Unknown	—	Disgenet	Taste transduction Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	C1858672 604233 MESH:C565809 MONDO:0011416	SCN1A	Causal	—	Disgenet	Dopaminergic synapse Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1	C1858672 604233 MESH:C565809 MONDO:0011416	SCN1B	Causal	11866477 14504340 17020904 17629415 19710327 19808477 22292491 24065921 30660056 9697698	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10	618482 C5193120 MONDO:0032777	HCN1	Causal	30351409	CTD, ClinVar, Disgenet, HPO	GnRH secretion HCN channels
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12	620755 C5935592 MONDO:0958324	SLC32A1	Causal	34038384 36073542	ClinVar, Disgenet, GWAS catalog, HPO	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	604403 C1858673 MESH:C565810 MONDO:0011461	SCN1A	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Dopaminergic synapse Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2	604403 C1858673 MESH:C565810 MONDO:0011461	RELN	Unknown	—	Disgenet	PI3K-Akt signaling pathway Focal adhesion ECM-receptor interaction +3 more
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3	C1858674	GABRG2	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5	C3501643	GABRD	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7	MONDO:0013470	SCN9A	Causal	19763161 23895530 31394368 32062735 33216760	Disgenet	Taste transduction Phase 0 - rapid depolarisation
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	616172 C4015395 MONDO:0014517 OMIM:616172	STX1B	Causal	25362483	CTD, ClinVar, Disgenet, GenCC, HPO	SNARE interactions in vesicular transport Synaptic vesicle cycle Toxicity of botulinum toxin type C (BoNT/C) +1 more
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9	616172 C4015395 MONDO:0014517 OMIM:616172	HSD3B7	Unknown	—	Disgenet	Primary bile acid biosynthesis Metabolic pathways Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol +2 more
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	36387	ADGRV1	Unknown	12402266	Orphanet	—
		CPA6	Unknown	21922598	Orphanet	—
		FGF13	Unknown	26063919 33245860	Orphanet	Phase 0 - rapid depolarisation
		GABRD	Unknown	—	Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +2 more
		GABRG2	Unknown	—	Orphanet	Neuroactive ligand-receptor interaction Retrograde endocannabinoid signaling GABAergic synapse +3 more
		HCN1	Unknown	30351409	Orphanet, ClinGen	GnRH secretion HCN channels
		PRRT2	Unknown	25522171	Orphanet	—
		SCN1A	Unknown	20301494	Orphanet, ClinGen	Dopaminergic synapse Phase 0 - rapid depolarisation
		SCN1B	Unknown	—	Orphanet, ClinGen	Adrenergic signaling in cardiomyocytes Phase 0 - rapid depolarisation
		SCN2A	Unknown	—	Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SCN9A	Unknown	—	Orphanet	Taste transduction Phase 0 - rapid depolarisation
		SLC32A1	Unknown	34038384	Orphanet	Synaptic vesicle cycle Retrograde endocannabinoid signaling GABAergic synapse +4 more
		STX1B	Unknown	25362483	Orphanet, ClinGen	SNARE interactions in vesicular transport Synaptic vesicle cycle Toxicity of botulinum toxin type C (BoNT/C) +1 more

Generalized epilepsy with febrile seizures plus

Bookmark This Disease