Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	C5779964 MONDO:0100062	SEC24C	Unknown	—	Disgenet
		SLC12A5	Unknown	—	ClinGen Disgenet
		SLC32A1	Unknown	—	Disgenet
		SNF8	Unknown	—	Disgenet
		SV2A	Unknown	—	Disgenet
		SYNJ1	Unknown	—	ClinGen
		SZT2	Unknown	—	ClinGen Disgenet
		TNK2	Unknown	—	Disgenet
		WWOX	Unknown	—	ClinGen
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1	308350	ARX	Unknown	—	HPO
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
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102	619881 C5676991 MONDO:0030881	SLC38A3	Causal	34605855	ClinVar Disgenet GenCC HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103	619913 C5677002 MONDO:0030957	KCNC2	Causal	—	ClinVar Disgenet GenCC HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104	619970 C5774183 MONDO:0031021	ATP6V0A1	Causal	30842224 28135719 33057194	ClinVar Disgenet GWAS catalog HPO
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 106	620028 C5774212 MONDO:0031052	CFAP96	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107	620033 C5774215 MONDO:0031055	NAPB	Unknown	33189936 26235277 28097321	Disgenet 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
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11	613721 OMIM:613721	SCN2A	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110	620149 C5774265 MONDO:0859327	CACNA2D1	Causal	25363768 28097321	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111	620504 C5882690 MONDO:0957780	DEPDC5	Causal	—	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112	620537 C5882700 MONDO:0957812	KCNH5	Causal	23647072 36307226	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113	620772 C5935597 MONDO:0958330	SV2A	Causal	37985816	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114	620774 C5935598 MONDO:0958331	SLC32A1	Causal	34038384 36073542	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115	620783 C5935604 MONDO:0968946	SNF8	Causal	38423010	ClinVar Disgenet HPO Orphanet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116	620806 C5935615 MONDO:0970945	GLUL	Causal	—	ClinVar Disgenet GenCC HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 117	616330	SNAP25	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 118	621250	TMEM63B	Causal	—	ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 12	C3150988 613722 OMIM:613722	KCNH5	Unknown	—	Disgenet
		PLCB1	Unknown	—	CTD Disgenet HPO
		PNKP	Unknown	—	Disgenet
		SCN2A	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13	614558 OMIM:614558	SCN8A	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14	C3554195 614959 OMIM:614959	CELF2	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14	C3554195 614959 OMIM:614959	KCNT1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	C3554316 615006	KCNT1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15	C3554316 615006	ST3GAL3	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16	C3809173 615338	GLUL	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16	C3809173 615338	TBC1D24	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 17	615473 OMIM:615473	GNAO1	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	C3809624 615476 OMIM:615476	HYI	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 18	C3809624 615476 OMIM:615476	SZT2	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19	615744 C3810400 OMIM:615744	GABRA1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2	300672	CDKL5	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21	615833 C4014430 OMIM:615833	NECAP1	Unknown	—	CTD Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	C4014492 615859 OMIM:615859	ANGPTL3	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23	C4014492 615859 OMIM:615859	DOCK7	Unknown	—	CTD Disgenet HPO

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Developmental and epileptic encephalopathy