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:0002411	HP:0002411	Myokymia	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0002411	HP:0002411	Myokymia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0002411	HP:0002411	Myokymia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0002411	HP:0002411	Myokymia	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0002411	HP:0002411	Myokymia	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0002411	HP:0002411	Myokymia	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0002411	HP:0002411	Myokymia	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0002411	HP:0002411	Myokymia	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0002411	HP:0002411	Myokymia	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0002411	HP:0002411	Myokymia	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040281 - Very frequent	145
HP:0002411	HP:0002411	Myokymia	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0002411	HP:0002411	Myokymia	0	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	.	528
HP:0002411	HP:0002411	Myokymia	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002411	HP:0002411	Myokymia	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0002411	HP:0002411	Myokymia	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0002411	HP:0002411	Myokymia	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0002411	HP:0002411	Myokymia	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0002411	HP:0002411	Myokymia	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0002411	HP:0002411	Myokymia	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12		5
HP:0002411	HP:0002411	Myokymia	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0002411	HP:0002411	Myokymia	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0002411	HP:0002411	Myokymia	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0002411	HP:0002411	Myokymia	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome		13
HP:0002411	HP:0002411	Myokymia	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002411	HP:0000317	Facial myokymia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0002411	HP:0000317	Facial myokymia	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0002411	HP:0000317	Facial myokymia	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040281 - Very frequent	25
HP:0002411	HP:0000317	Facial myokymia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare	100
HP:0002411	HP:0031166	Eyelid myokymia	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	HP:0040283 - Occasional	32
HP:0002411	HP:0031166	Eyelid myokymia	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0002411	HP:0100288	EMG: myokymic discharges	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent	12
HP:0002411	HP:0000317	Facial myokymia	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002411	HP:0000317	Facial myokymia	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0002411	HP:0000317	Facial myokymia	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional	60
HP:0002411	HP:0000317	Facial myokymia	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0002411	HP:0000317	Facial myokymia	1	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14	.	83
HP:0002411	HP:0000317	Facial myokymia	1	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.	126
HP:0002411	HP:0100288	EMG: myokymic discharges	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13