Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare
HP:0200134	HP:0200134	Epileptic encephalopathy	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARHGEF9 CL E G H	23229	14561	OMIM:300607	Epileptic encephalopathy, early infantile, 8	.	45
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARHGEF9 CL E G H	23229	14561	ORPHA:163985	Hyperekplexia-epilepsy syndrome	HP:0040282 - Frequent	45
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARV1 CL E G H	64801	29561	OMIM:617020	Epileptic encephalopathy, early infantile, 38	.	3
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0200134	HP:0200134	Epileptic encephalopathy	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69		11
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CAD CL E G H	790	1424	OMIM:616457	Epileptic encephalopathy, early infantile, 50	.	10
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	227
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare	45
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CNPY3 CL E G H	10695	11968	OMIM:617929	Epileptic encephalopathy, early infantile, 60	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional	24
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.	1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DNM1 CL E G H	1759	2972	OMIM:616346	Epileptic encephalopathy, early infantile, 31	.	72
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	HP:0040283 - Occasional	94
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.	11
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0200134	HP:0200134	Epileptic encephalopathy	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0200134	HP:0200134	Epileptic encephalopathy	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0200134	HP:0200134	Epileptic encephalopathy	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0200134	HP:0200134	Epileptic encephalopathy	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.	4
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRA1 CL E G H	2554	4075	OMIM:615744	Epileptic encephalopathy, early infantile, 19	.	134
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.	3
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GABRG2 CL E G H	2566	4087	OMIM:618396	Epileptic encephalopathy, early infantile, 74	.	139
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GLS CL E G H	2744	4331	OMIM:618328	Epileptic encephalopathy, early infantile, 71	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GNAO1 CL E G H	2775	4389	OMIM:615473	Epileptic encephalopathy, early infantile, 17	.	36
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101		108
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.	108
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040284 - Very rare	434
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.	274
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.	2
HP:0200134	HP:0200134	Epileptic encephalopathy	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.	2
HP:0200134	HP:0200134	Epileptic encephalopathy	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24	.	54
HP:0200134	HP:0200134	Epileptic encephalopathy	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0200134	HP:0200134	Epileptic encephalopathy	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26		65
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ2 CL E G H	3785	6296	OMIM:613720	Epileptic encephalopathy, early infantile, 7	.	528
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ2 CL E G H	3785	6296	ORPHA:439218	KCNQ2-related epileptic encephalopathy	HP:0040281 - Very frequent	528
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46	HP:0040284 - Very rare	5
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	.	321
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.	1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	HP:0040284 - Very rare	1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0200134	HP:0200134	Epileptic encephalopathy	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.	4
HP:0200134	HP:0200134	Epileptic encephalopathy	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	HP:0040283 - Occasional	132
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.	1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	52
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NRXN1 CL E G H	9378	8008	OMIM:614325	Pitt-Hopkins-Like syndrome 2	HP:0040282 - Frequent	470
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0200134	HP:0200134	Epileptic encephalopathy	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.	14
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12	.	119
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040281 - Very frequent	92
HP:0200134	HP:0200134	Epileptic encephalopathy	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0200134	HP:0200134	Epileptic encephalopathy	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0200134	HP:0200134	Epileptic encephalopathy	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)		1053
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	1053
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.	126
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.	427
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62		70
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.	357
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67	.	11
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent	11
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC13A5 CL E G H	284111	23089	OMIM:615905	Epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta	.	73
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41	.	3
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent	166
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	255
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	29
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	.	416
HP:0200134	HP:0200134	Epileptic encephalopathy	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.	41
HP:0200134	HP:0200134	Epileptic encephalopathy	0	STAG1 CL E G H	10274	11354	ORPHA:502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	HP:0040283 - Occasional	9
HP:0200134	HP:0200134	Epileptic encephalopathy	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.	237
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5	HP:0040283 - Occasional	108
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040284 - Very rare	108
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.	9
HP:0200134	HP:0200134	Epileptic encephalopathy	0	SZT2 CL E G H	23334	29040	OMIM:615476	Epileptic encephalopathy, early infantile, 18	.	123
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0200134	HP:0200134	Epileptic encephalopathy	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0200134	HP:0200134	Epileptic encephalopathy	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0200134	HP:0200134	Epileptic encephalopathy	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149