Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61	617933 C4693688	ADAM22	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62	617938 C4693699	SCN3A	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63	617976 C4693810	CPLX1	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	618004 C4693899	RHOBTB2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64	618004 C4693899	SCN8A	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65	618008 C4693925	CYFIP2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66	C4748070 618067	BRF1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66	C4748070 618067	PACS2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67	618141 C4748341	CUX2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 68	618201 C4748688	TRAK1	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69	618285 C4748988	CACNA1E	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B	619317 C5543353 MONDO:0030268	SCN1A	Causal	—	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7	613720 OMIM:613720	KCNQ2	Unknown	—	CTD HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	618298 C4749023	PHACTR1	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	618298 C4749023	TBC1D7-LOC100130357	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71	618328	GLS	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 72	618374 C5193063	NEUROD2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73	618379	RNF13	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74	618396 C5193074	GABRG2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75	618437 C5193099	PARS2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76	618468	ACTL6B	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78	618557 C5231409	GABRA2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78	618557 C5231409	YY1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79	618559 C5231410	GABRA5	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8	300607	ARHGEF9	Unknown	—	HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80	C5231418 618580	CCPG1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80	C5231418 618580	PIGB	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81	618663 C5231450	DMXL2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82	618721 C5231473	GOT2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	C5231487 618744	DEPDC5	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83	C5231487 618744	UGP2	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84	618792 C5394081	UGDH	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS	301044 C5393312	SMC1A	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86	618910 C5394462	DALRD3	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87	C5394501 618916	AMD1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87	C5394501 618916	CDK19	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88	618959 C5394553	MDH1	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88	618959 C5394553	WDPCP	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89	619124 C5436853 MONDO:0030856	GAD1	Causal	32282878 32705143	ClinVar Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9	300088 C1848137	PCDH19	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90	301058 C5542345	FGF13	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91	617711 C4540199 MONDO:0020630	PPP3CA	Causal	25260786 28942967 29432562 30455226 30951195 35753512	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92	617829 C4693362 MONDO:0020631	GABRB2	Causal	25124326 27789573 29100083 30013074 33325057	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92	617829 C4693362 MONDO:0020631	KMT2C	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93	618012 C4693934 MONDO:0020632	ATP6V1A	Causal	29668857 32045939	ClinVar Disgenet GWAS catalog HPO
		ATP7B	Causal	—	Disgenet
		ATP6V1B2	Unknown	25915598 29158550 31655144	Disgenet GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94	615369 C3809278 MONDO:0014150	CHD2	Causal	23708187 24207121 24614520 25672921 25783594 26262932 28910737 28960266 29529558 29740950 31677157 31993582 32170405 34609735 34713950 35222528 35386198 35627293 35774518 35774528 37873138 37877434 38125503	ClinVar Disgenet GWAS catalog HPO
		CHRNA4	Unknown	—	Disgenet
		SLC6A1	Unknown	—	Disgenet

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Developmental and epileptic encephalopathy