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:0003739	HP:0003739	Myoclonic spasms	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0003739	HP:0003739	Myoclonic spasms	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0003739	HP:0003739	Myoclonic spasms	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0003739	HP:0003739	Myoclonic spasms	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional	101
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0003739	HP:0003739	Myoclonic spasms	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional	101
HP:0003739	HP:0003739	Myoclonic spasms	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0003739	HP:0003739	Myoclonic spasms	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003739	HP:0003739	Myoclonic spasms	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003739	HP:0003739	Myoclonic spasms	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0003739	HP:0003739	Myoclonic spasms	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0003739	HP:0003739	Myoclonic spasms	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0003739	HP:0003739	Myoclonic spasms	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional	4
HP:0003739	HP:0003739	Myoclonic spasms	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0003739	HP:0003739	Myoclonic spasms	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0003739	HP:0003739	Myoclonic spasms	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0003739	HP:0003739	Myoclonic spasms	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0003739	HP:0003739	Myoclonic spasms	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0003739	HP:0003739	Myoclonic spasms	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0003739	HP:0003739	Myoclonic spasms	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0003739	HP:0003739	Myoclonic spasms	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0003739	HP:0010828	Hemifacial spasm	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0003739	HP:0010828	Hemifacial spasm	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0003739	HP:0010828	Hemifacial spasm	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0003739	HP:0010828	Hemifacial spasm	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0003739	HP:0010828	Hemifacial spasm	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0003739	HP:0010828	Hemifacial spasm	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0003739	HP:0010828	Hemifacial spasm	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0003739	HP:0010828	Hemifacial spasm	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0003739	HP:0010828	Hemifacial spasm	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0003739	HP:0010828	Hemifacial spasm	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0003739	HP:0010828	Hemifacial spasm	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0003739	HP:0010828	Hemifacial spasm	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare