Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95	618143 C4748357	PIGS	Unknown	—	Disgenet HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96	619340 C5543446 MONDO:0023659	NSF	Causal	31675180	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96	619340 C5543446 MONDO:0023659	LRRC37A2	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97	619561 C5561999 MONDO:0030453	CELF2	Causal	33131106	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97	619561 C5561999 MONDO:0030453	KCNT1	Unknown	—	Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98	619605 C5562017 MONDO:0030472	ATP1A2	Causal	160098521 27864847 28135719 30185235	ClinVar Disgenet GWAS catalog HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99	619606 C5562018 MONDO:0030473	ATP1A3	Causal	—	ClinVar Disgenet GenCC HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH SPIKE-WAVE ACTIVATION IN SLEEP	725	FRRS1L	Unknown	27239025	Orphanet
	725	GRIN2A	Unknown	23933818 23933819 23933820	Orphanet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 1	MONDO:0010632	ARX	Causal	—	ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 11	MONDO:0013388	SCN2A	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 12	MONDO:0013389	PLCB1	Causal	20833646	CTD ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 13	MONDO:0013801	SCN8A	Causal	22365152 16236810 24352161 24874546 24888894 25239001 25568300 25725044 26235738 25799905 25951352 26235739 26252990 26553437 26677014 26933559 27210545 27659738 27875746 27900360 28084268 28676440 28702509 28923014 29121005 29128	ClinGen ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 14	MONDO:0013989	KCNT1	Causal	23086397 23086396	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 15	MONDO:0014003	ST3GAL3	Causal	21907012 23252400 31584066	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 16	MONDO:0014133	TBC1D24	Causal	25719194	CTD ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 17	MONDO:0014199	GNAO1	Causal	23993195	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 18	MONDO:0014201	SZT2	Causal	19624305 23932106 27248490 28199315 28556953 28893434	CTD ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 19	MONDO:0014328	GABRA1	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 2	MONDO:0010396	CDKL5	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 21	MONDO:0014360	NECAP1	Causal	24399846 30525121 30626896	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 23	MONDO:0014371	DOCK7	Causal	24814191	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 24	MONDO:0014377	HCN1	Causal	24747641	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 25	MONDO:0014392	SLC13A5	Causal	24995870 26384929	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 26	MONDO:0014477	KCNB1	Causal	25164438	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 27	MONDO:0014505	GRIN2B	Causal	23934111 31085877 30151416 28377535 27605359 24272827 35393335	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 28	MONDO:0014533	WWOX	Causal	24456803	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 29	MONDO:0014593	AARS1	Causal	25817015 28493438 29858556 34446925	ClinGen ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 3	MONDO:0012245	SLC25A22	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 30	MONDO:0014595	SIK1	Causal	25839329	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31A	MONDO:0014598	DNM1	Causal	17463283 25262651 26611353 26648591 27066543 27781031	CTD ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 31B	MONDO:0957248	DNM1	Causal	34172529 36553519	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 32	MONDO:0014607	KCNA2	Causal	25751627	CTD ClinVar
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 33	MONDO:0014625	EEF1A2	Causal	23033978 23647072 24697219 26682508 27441201 28378778 32160274 32196822 7078649 9539760	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 34	MONDO:0014718	SLC12A5	Causal	11395011 12000122 15813942 16271048 26333769 27436767	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 35	MONDO:0014719	ITPA	Causal	17304144 19498443 26224535 30816001	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 36	MONDO:0010472	ALG13	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 37	MONDO:0014859	FRRS1L	Causal	27236917 27239025	ClinVar Orphanet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 38	MONDO:0014868	ARV1	Causal	25558065 27270415 27513193	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 39	MONDO:0013056	SLC25A12	Causal	19641205 20015484 24515575 26633542 27290639 31403263	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 4	MONDO:0012812	STXBP1	Causal	19557857 18469812 32105008 31387522 31344879 30654231 29929108 29896790 29718889 29544889 29264391 28944233 27184330 27069701 26865513 26514728 26384463 26212315 25714420 25631041 25418441 24623842 24315539 24189369 24170257 24095	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 40	MONDO:0014895	GUF1	Causal	18007604 26486472 30945278	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 41	MONDO:0014916	SLC1A2	Causal	1465194 23934111 25834045 27476654 28777935 30937933 9180080	ClinGen ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 42	MONDO:0014917	CACNA1A	Causal	20156848 21703448 22942164 25735478 25784583 26795593 27212419 27250579 27476654	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 43	MONDO:0014921	GABRB3	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 44	MONDO:0014933	UBA5	Causal	27545674 27545681 28965491 29663568 29902590 30078785 71540702 771982	ClinVar Disgenet
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 45	MONDO:0014942	GABRB1	Causal	26950270 27273810 29186148 31618474 31780880	ClinVar GWAS catalog
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 46	MONDO:0014947	GRIN2D	Causal	—	ClinVar GenCC
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 47	MONDO:0014949	FGF12	Causal	27830185 27872899 27164707	ClinVar HPO
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY, 48	MONDO:0015000	AP3B2	Causal	27431290 27889060 29453418 31231135	ClinVar GWAS catalog

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Developmental and epileptic encephalopathy