Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AARS CL E G H	16	616339	Epileptic encephalopathy, early infantile, 29	616339	C4225361	OMIM	1		20	601065
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ADAM22 CL E G H	53616	617933	Early infantile epileptic encephalopathy 61	617933	CN244550	OMIM	1	89	201	603709
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ALG9 CL E G H	79796	608776	ALG9 congenital disorder of glycosylation	608776	C2931006	OMIM	1	312	15672	606941
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AP3B2 CL E G H	8120	617276	Epileptic encephalopathy, early infantile, 48	617276	C4310637	OMIM	1	690	567	602166
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARHGEF9 CL E G H	23229	300607	Early infantile epileptic encephalopathy 8	300607	C1845102	OMIM	1	509	14561	300429
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARV1 CL E G H	64801	617020	Epileptic encephalopathy, early infantile, 38	617020	C4310762	OMIM	1	89	29561	611647
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARX CL E G H	170302	308350	Epileptic encephalopathy, early infantile, 1	308350	C3463992	OMIM	1	810	18060	300382
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ATP6V1A CL E G H	523	618012	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3	618012	CN248521	OMIM	1	229	851	607027
HP:0200134	HP:0200134	Epileptic encephalopathy	0	BOLA3 CL E G H	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	614299	C3280378	OMIM	1	102	24415	613183
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA1A CL E G H	773	617106	Epileptic encephalopathy, early infantile, 42	617106	C4310716	OMIM	1	3248	1388	601011
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA1E CL E G H	777	618285	618285	618285		OMIM	1	1583	1392	601013
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CAD CL E G H	790	616457	Epileptic encephalopathy, early infantile, 50	616457	C4225320	OMIM	1	1320	1424	114010
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	825	25695	612800
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CDKL5 CL E G H	6792	300672	Early infantile epileptic encephalopathy 2	300672	C1839333	OMIM	1	1738	11411	300203
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CHD2 CL E G H	1106	1942				ORPHA	1	1838	1917	602119
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CHD2 CL E G H	1106	615369	Epileptic encephalopathy, childhood-onset	615369	C3809278	OMIM	1	1838	1917	602119
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CNPY3 CL E G H	10695	617929	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60	617929	CN244549	OMIM	1	44	11968	610774
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CPLX1 CL E G H	10815	617976	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63	617976	CN244926	OMIM	1	206	2309	605032
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CUX2 CL E G H	23316	618141	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67	618141		OMIM	1	227	19347	610648
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CYFIP2 CL E G H	26999	618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	618008	CN248516	OMIM	1	668	13760	606323
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DENND5A CL E G H	23258	617281	Epileptic encephalopathy, early infantile, 49	617281	C4310635	OMIM	1	463	19344	617278
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DNM1 CL E G H	1759	616346	Epileptic encephalopathy, early infantile, 31	616346	C4225357	OMIM	1	765	2972	602377
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DOCK7 CL E G H	85440	615859	Epileptic encephalopathy, early infantile, 23	615859	C4014492	OMIM	1	1510	19190	615730
HP:0200134	HP:0200134	Epileptic encephalopathy	0	EEF1A2 CL E G H	1917	616409	Epileptic encephalopathy, early infantile, 33	616409	C4225337	OMIM	1	575	3192	602959
HP:0200134	HP:0200134	Epileptic encephalopathy	0	FGF12 CL E G H	2257	617166	Epileptic encephalopathy, early infantile, 47	617166	C4310685	OMIM	1	259	3668	601513
HP:0200134	HP:0200134	Epileptic encephalopathy	0	FRRS1L CL E G H	23732	616981	Epileptic encephalopathy, early infantile, 37	616981	C4310770	OMIM	1	402	1362	604574
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABBR2 CL E G H	9568	617904	Early infantile epileptic encephalopathy 59	617904	CN870853	OMIM	1	848	4507	607340
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRA1 CL E G H	2554	615744	Epileptic encephalopathy, early infantile, 19	615744	C3810400	OMIM	1	606	4075	137160
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB1 CL E G H	2560	617153	Epileptic encephalopathy, early infantile, 45	617153	C4310691	OMIM	1	275	4081	137190
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB2 CL E G H	2561	617829	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2	617829	CN757794	OMIM	1	494	4082	600232
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB3 CL E G H	2562	617113	Epileptic encephalopathy, early infantile, 43	617113	C4310712	OMIM	1	838	4083	137192
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GNAO1 CL E G H	2775	615473	Early infantile epileptic encephalopathy 17	615473	C3809606	OMIM	1	429	4389	139311
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN1 CL E G H	2902	617820	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE	617820	CN737161	OMIM	1	929	4584	138249
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN2B CL E G H	2904	616139	Epileptic encephalopathy, early infantile, 27	616139	C4015316	OMIM	1	1353	4586	138252
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN2D CL E G H	2906	617162	Epileptic encephalopathy, early infantile, 46	617162	C4310687	OMIM	1	823	4588	602717
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GUF1 CL E G H	60558	617065	Epileptic encephalopathy, early infantile, 40	617065	C4310737	OMIM	1	309	25799	617064
HP:0200134	HP:0200134	Epileptic encephalopathy	0	HCN1 CL E G H	348980	615871	Epileptic encephalopathy, early infantile, 24	615871	C4014531	OMIM	1	796	4845	602780
HP:0200134	HP:0200134	Epileptic encephalopathy	0	HNRNPU CL E G H	3192	617391	Epileptic encephalopathy, early infantile, 54	617391	C4479319	OMIM	1	882	5048	602869
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNA2 CL E G H	3737	616366	Epileptic encephalopathy, early infantile, 32	616366	C4225350	OMIM	1	401	6220	176262
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNB1 CL E G H	3745	616056	Epileptic encephalopathy, early infantile, 26	616056	C4015119	OMIM	1	635	6231	600397
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ2 CL E G H	3785	439218				ORPHA	1	1962	6296	602235
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ2 CL E G H	3785	613720	Early infantile epileptic encephalopathy 7	613720	C3150986	OMIM	1	1962	6296	602235
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNT1 CL E G H	57582	614959	Early infantile epileptic encephalopathy 14	614959	C3554195	OMIM	1	2000	18865	608167
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNT2 CL E G H	343450	617771	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 57	617771	C4540411	OMIM	1	147	18866	610044
HP:0200134	HP:0200134	Epileptic encephalopathy	0	MDH2 CL E G H	4191	617339	Epileptic encephalopathy, early infantile, 51	617339	C4479208	OMIM	1	593	6971	154100
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NECAP1 CL E G H	25977	615833	Early infantile epileptic encephalopathy 21	615833	C4014430	OMIM	1	221	24539	611623
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NRXN1 CL E G H	9378	614325	Pitt-Hopkins-like syndrome 2	614325	C3280479	OMIM	1	2065	8008	600565
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NTRK2 CL E G H	4915	617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	617830	CN757795	OMIM	1	509	8032	600456
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PACS2 CL E G H	23241	618067	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66	618067	CN252658	OMIM	1	858	23794	610423
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PHACTR1 CL E G H	221692	618298	618298	618298		OMIM	1	97	20990	608723
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	1	483	8957	311770
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PIGP CL E G H	51227	617599	Early infantile epileptic encephalopathy 55	617599	C4539843	OMIM	1	188	3046	605938
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PLCB1 CL E G H	23236	613722	Early infantile epileptic encephalopathy 12	613722	C3150988	OMIM	1	1107	15917	607120
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PNKP CL E G H	11284	613402	Early infantile epileptic encephalopathy 10	613402	C3150667	OMIM	1	1028	9154	605610
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PNPO CL E G H	55163	79096				ORPHA	1	317	30260	603287
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PPP3CA CL E G H	5530	617711	EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	617711	C4540199	OMIM	1	351	9314	114105
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ROGDI CL E G H	79641	226750	Kohlschutter's syndrome	226750	C0406740	OMIM	1	560	29478	614574
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN1A CL E G H	6323	607208	Severe myoclonic epilepsy in infancy	607208	C0751122	OMIM	1	4030	10585	182389
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN1B CL E G H	6324	617350	Epileptic encephalopathy, early infantile, 52	617350	C4479236	OMIM	1	511	10586	600235
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN2A CL E G H	6326	613721	Early infantile epileptic encephalopathy 11	613721	C3150987	OMIM	1	2280	10588	182390
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN3A CL E G H	6328	617938	Early infantile epileptic encephalopathy 62	617938	CN244551	OMIM	1	1420	10590	182391
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN8A CL E G H	6334	614558	Early infantile epileptic encephalopathy 13	614558	C3281191	OMIM	1	1799	10596	600702
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SIK1 CL E G H	150094	1935				ORPHA	1	909	11142	605705
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SIK1 CL E G H	150094	616341	Epileptic encephalopathy, early infantile, 30	616341	C4225360	OMIM	1	909	11142	605705
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC13A5 CL E G H	284111	615905	Epileptic encephalopathy, early infantile, 25	615905	C4014621	OMIM	1	685	23089	608305
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC1A2 CL E G H	6506	617105	Epileptic encephalopathy, early infantile, 41	617105	C4310717	OMIM	1	359	10940	600300
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A12 CL E G H	8604	612949	Hypomyelination, global cerebral	612949	C2751855	OMIM	1	451	10982	603667
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A22 CL E G H	79751	1935				ORPHA	1	551	19954	609302
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A22 CL E G H	79751	609304	Early myoclonic encephalopathy	609304	C0270855	OMIM	1	551	19954	609302
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC35A2 CL E G H	7355	300896	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm	300896	C3806688	OMIM	1	429	11022	314375
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC6A1 CL E G H	6529	1942				ORPHA	1	809	11042	137165
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SPTAN1 CL E G H	6709	613477	Early infantile epileptic encephalopathy 5	613477	C3150731	OMIM	1	2267	11273	182810
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ST3GAL3 CL E G H	6487	615006	Early infantile epileptic encephalopathy 15	615006	C3554316	OMIM	1	340	10866	606494
HP:0200134	HP:0200134	Epileptic encephalopathy	0	STXBP1 CL E G H	6812	612164	Early infantile epileptic encephalopathy 4	612164	C2677326	OMIM	1	1017	11444	602926
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	1315	11503	604297
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SZT2 CL E G H	23334	615476	Early infantile epileptic encephalopathy 18	615476	C3809624	OMIM	1	2862	29040	615463
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TBC1D24 CL E G H	57465	352596				ORPHA	1	893	29203	613577
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	893	29203	613577
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TWNK CL E G H	56652	271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	271245	C1849096	OMIM	1	450	1160	606075
HP:0200134	HP:0200134	Epileptic encephalopathy	0	WWOX CL E G H	51741	616211	Epileptic encephalopathy, early infantile, 28	616211	C4015519	OMIM	1	1102	12799	605131
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CLCN4 CL E G H	1183	300114	Mental retardation 49, X-linked	300114	C3887959	OMIM	0	686	2022	302910
HP:0200134	HP:0200134	Epileptic encephalopathy	0	COQ4 CL E G H	51117	616276	Coenzyme Q10 deficiency, primary, 7	616276	C4225392	OMIM	0	291	19693	612898
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DHDDS CL E G H	79947	617836	DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES	617836	CN769090	OMIM	0	434	20603	608172
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DNM1L CL E G H	10059	614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	614388	C3280660	OMIM	0	591	2973	603850
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ5 CL E G H	56479	617601	MENTAL RETARDATION, AUTOSOMAL DOMINANT 46	617601	C4539851	OMIM	0	509	6299	607357
HP:0200134	HP:0200134	Epileptic encephalopathy	0	MEF2C CL E G H	4208	613443	Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations	613443	C3150700	OMIM	0	515	6996	600662
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NUS1 CL E G H	116150	617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES	617831	CN757796	OMIM	0	326	21042	610463
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	0	133	9119	603131
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SYNGAP1 CL E G H	8831	612621	Mental retardation, autosomal dominant 5	612621	C2675473	OMIM	0	1335	11497	603384