Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
SEIZURES	MESH:D012640	TRH	Unknown	10443546 15781040	CTD
		TSC1	Unknown	28215400	CTD
		TSC2	Unknown	21062901 28215400	CTD
SEIZURES, BENIGN FAMILIAL INFANTILE, 2	605751 C1853995 MONDO:0011593 OMIM:605751	PRRT2	Causal	—	CTD ClinVar Disgenet GenCC HPO
SEIZURES, BENIGN FAMILIAL INFANTILE, 3	607745 C1843140 MONDO:0011904	SCN2A	Causal	—	ClinVar Disgenet GenCC HPO
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	C4310728 617080 MONDO:0014903 OMIM:617080	KCNQ3	Causal	—	Disgenet
SEIZURES, BENIGN FAMILIAL INFANTILE, 5	C4310728 617080 MONDO:0014903 OMIM:617080	SCN8A	Causal	27210545 27875746 28923014 29263050 31402610	CTD ClinVar Disgenet GWAS catalog HPO
SEIZURES, BENIGN FAMILIAL INFANTILE, 6	C4692954	CHRNA2	Unknown	—	Disgenet
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	C3149074 121200 MONDO:0007365 OMIM:121200	ATP1A3	Causal	—	Disgenet
SEIZURES, BENIGN FAMILIAL NEONATAL, 1	C3149074 121200 MONDO:0007365 OMIM:121200	KCNQ2	Causal	10323247 17872363 15249611 9430594 9425895 11175290 11572947 16235065 9885816 10482260 10774989 12847176 14534157 14669214 14985406 15030501 15178210 15596769 16686649 16691402 17044971 17675531 18246739 18353052 18640800	CTD ClinVar Disgenet GWAS catalog HPO
SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA	C3149075	KCNQ2	Causal	—	Disgenet
SEIZURES, BENIGN FAMILIAL NEONATAL, 2	MONDO:0007366 121201 OMIM:121201	KCNQ2	Causal	14534157 23360469 25982755 29215089	GWAS catalog
SEIZURES, BENIGN FAMILIAL NEONATAL, 2	MONDO:0007366 121201 OMIM:121201	KCNQ3	Causal	18425618	CTD ClinVar GenCC HPO
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	616632 OMIM:616632	DIAPH1	Unknown	—	CTD HPO
SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS	618875 C5394359 MONDO:0030033	NRROS	Causal	28459434 29909984 32100099 32197075 35099671 35716448	ClinGen ClinVar Disgenet GWAS catalog HPO
SEIZURES, FEBRILE	MESH:D003294	ANO3	Unknown	25344690	CTD
		GABRG2	Unknown	25362483	CTD
		IMPA2	Unknown	15557493	CTD
		SCN1A	Unknown	21480876 25344690 25362483	CTD
		SCN1B	Unknown	25362483	CTD
		SCN2A	Unknown	25344690	CTD
		STX1B	Unknown	25362483	CTD
SEIZURES, FOCAL	C0751495	ARFGEF1	Unknown	—	Disgenet
		ATP6V0A1	Unknown	—	Disgenet
		BRCA2	Unknown	—	Disgenet
		CAPRIN1	Unknown	—	Disgenet
		CFAP96	Unknown	—	Disgenet
		CPA6	Unknown	—	Disgenet
		DYNC1H1	Unknown	—	Disgenet
		GRIA3	Unknown	—	Disgenet
		KCNA6	Unknown	—	Disgenet
		NF1	Unknown	—	Disgenet
		NRAS	Unknown	—	Disgenet
		PCDH19	Unknown	—	Disgenet
		PIK3CA	Unknown	—	Disgenet
		SCN1A	Unknown	—	Disgenet
		SCN4A	Unknown	—	Disgenet
		UFSP2	Unknown	—	Disgenet
SEIZURES, INTRACTABLE	C2674422	ALDH7A1	Unknown	—	Disgenet
		GABRA1	Unknown	—	Disgenet
		PIGQ	Unknown	—	Disgenet
		ST7	Unknown	—	Disgenet

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Seizures