Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24	615871 C4014531 OMIM:615871	HCN1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25	C4014621	SLC13A5	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA	615905 OMIM:615905	SLC13A5	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26	616056 C4015119 OMIM:616056	KCNB1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27	616139 OMIM:616139	GRIN2B	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28	616211 OMIM:616211	WWOX	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29	616339 C4225361 OMIM:616339	AARS1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 3	609304	SLC25A22	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	C4225360 616341 OMIM:616341	SCN2A	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30	C4225360 616341 OMIM:616341	SIK1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31	C4225357	CIZ1	Unknown	—	Disgenet
		DNM1	Unknown	—	Disgenet
		MBD5	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A	616346 OMIM:616346	DNM1	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	C5830459 620352	CIZ1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B	C5830459 620352	DNM1	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32	616366 C4225350 OMIM:616366	KCNA2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33	616409 C4225337 OMIM:616409	EEF1A2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34	616645 C4225257 OMIM:616645	SLC12A5	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35	616647 OMIM:616647	ITPA	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36	300884 OMIM:300884	ALG13	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37	616981 C4310770 OMIM:616981	FRRS1L	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38	617020 C4310762 OMIM:617020	ARV1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39 WITH LEUKODYSTROPHY	612949	SLC25A12	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4	612164	STXBP1	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 40	617065 C4310737 OMIM:617065	GUF1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41	617105 C4310717 OMIM:617105	SLC1A2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42	617106 C4310716 OMIM:617106	CACNA1A	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43	617113 C4310712 OMIM:617113	GABRB3	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44	C4310700 617132 OMIM:617132	ACAD11	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44	C4310700 617132 OMIM:617132	UBA5	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45	617153 C4310691 OMIM:617153	GABRB1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46	617162 C4310687 OMIM:617162	GRIN2D	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47	617166 OMIM:617166	FGF12	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48	617276 C4310637 OMIM:617276	AP3B2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 49	617281 C4310635 OMIM:617281	DENND5A	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5	613477 C3150731 OMIM:613477	SPTAN1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50	616457 OMIM:616457	CAD	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 51	617339 C4479208 OMIM:617339	MDH2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	C4479236 617350 OMIM:617350	CACNA1A	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52	C4479236 617350 OMIM:617350	SCN1B	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53	617389 C4479313 OMIM:617389	SYNJ1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54	617391 C4479319 OMIM:617391	HNRNPU	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55	617599 C4539843	PIGP	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 56	617665 C4540034	YWHAG	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57	617771 C4540411	KCNT2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 58	617830	NTRK2	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59	617904 C4693550	GABBR2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60	617929 C4693663	CNPY3	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 60	617929 C4693663	CNPY3-GNMT	Unknown	—	Disgenet

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Developmental and epileptic encephalopathy