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:0010841	HP:0010841	Multifocal epileptiform discharges	0	ACTL6B CL E G H	51412	160	OMIM:618468	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76		2
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease		48
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy		118
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy		405
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC		227
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040282 - Frequent	141
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	DPYD CL E G H	1806	3012	ORPHA:1675	Dihydropyrimidine dehydrogenase deficiency	HP:0040282 - Frequent	144
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	.	3
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59		5
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy		36
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy		108
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy		5
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy		145
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	KCNMA1 CL E G H	3778	6284	OMIM:618596	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 16; EIG16		114
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy		2
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.	2
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy		3
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3		12
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy		244
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	.	2
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B		1053
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy		126
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy		427
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy		11
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy		166
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.	47
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0010841	HP:0010841	Multifocal epileptiform discharges	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy		1
HP:0010841	HP:0011191	Unilateral multifocal epileptiform discharges	1	CL E G H
HP:0010841	HP:0011189	Bilateral multifocal epileptiform discharges	1	CL E G H
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0010841	HP:0011190	Uni- and bilateral multifocal epileptiform discharges	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1