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:0002380	HP:0002380	Fasciculations	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002380	HP:0002380	Fasciculations	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0002380	HP:0002380	Fasciculations	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002380	HP:0002380	Fasciculations	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.	60
HP:0002380	HP:0002380	Fasciculations	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy		60
HP:0002380	HP:0002380	Fasciculations	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0002380	HP:0002380	Fasciculations	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10	.	64
HP:0002380	HP:0002380	Fasciculations	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0002380	HP:0002380	Fasciculations	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0002380	HP:0002380	Fasciculations	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0002380	HP:0002380	Fasciculations	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0002380	HP:0002380	Fasciculations	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002380	HP:0002380	Fasciculations	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0002380	HP:0002380	Fasciculations	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0002380	HP:0002380	Fasciculations	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040283 - Occasional	19
HP:0002380	HP:0002380	Fasciculations	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0002380	HP:0002380	Fasciculations	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002380	HP:0002380	Fasciculations	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0002380	HP:0002380	Fasciculations	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0002380	HP:0002380	Fasciculations	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002380	HP:0002380	Fasciculations	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002380	HP:0002380	Fasciculations	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002380	HP:0002380	Fasciculations	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	HP:0040283 - Occasional	46
HP:0002380	HP:0002380	Fasciculations	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0002380	HP:0002380	Fasciculations	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0002380	HP:0002380	Fasciculations	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0002380	HP:0002380	Fasciculations	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0002380	HP:0002380	Fasciculations	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040283 - Occasional
HP:0002380	HP:0002380	Fasciculations	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0002380	HP:0002380	Fasciculations	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent	11
HP:0002380	HP:0002380	Fasciculations	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.	11
HP:0002380	HP:0002380	Fasciculations	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0002380	HP:0002380	Fasciculations	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0002380	HP:0002380	Fasciculations	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040283 - Occasional
HP:0002380	HP:0002380	Fasciculations	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.	86
HP:0002380	HP:0002380	Fasciculations	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0002380	HP:0002380	Fasciculations	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	HP:0040283 - Occasional	62
HP:0002380	HP:0002380	Fasciculations	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002380	HP:0002380	Fasciculations	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002380	HP:0002380	Fasciculations	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0002380	HP:0002380	Fasciculations	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002380	HP:0002380	Fasciculations	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002380	HP:0002380	Fasciculations	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002380	HP:0002380	Fasciculations	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0002380	HP:0002380	Fasciculations	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID		1
HP:0002380	HP:0002380	Fasciculations	0	FUS CL E G H	2521	4010	OMIM:608030	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia	.	105
HP:0002380	HP:0002380	Fasciculations	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0002380	HP:0002380	Fasciculations	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002380	HP:0002380	Fasciculations	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002380	HP:0002380	Fasciculations	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002380	HP:0002380	Fasciculations	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	63
HP:0002380	HP:0002380	Fasciculations	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	46
HP:0002380	HP:0002380	Fasciculations	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	18
HP:0002380	HP:0002380	Fasciculations	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0002380	HP:0002380	Fasciculations	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0002380	HP:0002380	Fasciculations	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0002380	HP:0002380	Fasciculations	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0002380	HP:0002380	Fasciculations	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia		12
HP:0002380	HP:0002380	Fasciculations	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.	12
HP:0002380	HP:0002380	Fasciculations	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002380	HP:0002380	Fasciculations	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0002380	HP:0002380	Fasciculations	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F		47
HP:0002380	HP:0002380	Fasciculations	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.	47
HP:0002380	HP:0002380	Fasciculations	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0002380	HP:0002380	Fasciculations	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0002380	HP:0002380	Fasciculations	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040281 - Very frequent	38
HP:0002380	HP:0002380	Fasciculations	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0002380	HP:0002380	Fasciculations	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002380	HP:0002380	Fasciculations	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0002380	HP:0002380	Fasciculations	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0002380	HP:0002380	Fasciculations	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0002380	HP:0002380	Fasciculations	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0002380	HP:0002380	Fasciculations	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0002380	HP:0002380	Fasciculations	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.	8
HP:0002380	HP:0002380	Fasciculations	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0002380	HP:0002380	Fasciculations	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0002380	HP:0002380	Fasciculations	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.	24
HP:0002380	HP:0002380	Fasciculations	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0002380	HP:0002380	Fasciculations	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0002380	HP:0002380	Fasciculations	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0002380	HP:0002380	Fasciculations	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12		62
HP:0002380	HP:0002380	Fasciculations	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18		6
HP:0002380	HP:0002380	Fasciculations	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0002380	HP:0002380	Fasciculations	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.	65
HP:0002380	HP:0002380	Fasciculations	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent	65
HP:0002380	HP:0002380	Fasciculations	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.	25
HP:0002380	HP:0002380	Fasciculations	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0002380	HP:0002380	Fasciculations	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0002380	HP:0002380	Fasciculations	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0002380	HP:0002380	Fasciculations	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.	81
HP:0002380	HP:0002380	Fasciculations	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0002380	HP:0002380	Fasciculations	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B		50
HP:0002380	HP:0002380	Fasciculations	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11		26
HP:0002380	HP:0002380	Fasciculations	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0002380	HP:0002380	Fasciculations	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0002380	HP:0002380	Fasciculations	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040282 - Frequent	263
HP:0002380	HP:0002380	Fasciculations	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent	40
HP:0002380	HP:0002380	Fasciculations	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0002380	HP:0002380	Fasciculations	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0002380	HP:0002380	Fasciculations	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0002380	HP:0002380	Fasciculations	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002380	HP:0002380	Fasciculations	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002380	HP:0002380	Fasciculations	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0002380	HP:0002380	Fasciculations	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0002380	HP:0002380	Fasciculations	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent	81
HP:0002380	HP:0002380	Fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I		22
HP:0002380	HP:0002380	Fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0002380	HP:0002380	Fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0002380	HP:0002380	Fasciculations	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0002380	HP:0002380	Fasciculations	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0002380	HP:0002380	Fasciculations	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.	53
HP:0002380	HP:0002380	Fasciculations	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP		53
HP:0002380	HP:0002380	Fasciculations	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.	287
HP:0002380	HP:0002380	Fasciculations	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0002380	HP:0002380	Fasciculations	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0002380	HP:0002380	Fasciculations	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.	62
HP:0002380	HP:0002380	Fasciculations	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0002380	HP:0002380	Fasciculations	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent	1129
HP:0002380	HP:0002380	Fasciculations	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0002380	HP:0002380	Fasciculations	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0002380	HP:0002380	Fasciculations	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0002380	HP:0002380	Fasciculations	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002380	HP:0002380	Fasciculations	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.	20
HP:0002380	HP:0002380	Fasciculations	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0002380	HP:0002380	Fasciculations	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type		18
HP:0002380	HP:0002380	Fasciculations	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.	18
HP:0002380	HP:0002380	Fasciculations	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0002380	HP:0002380	Fasciculations	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0002380	HP:0002380	Fasciculations	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002380	HP:0002380	Fasciculations	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002380	HP:0002380	Fasciculations	0	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome		1
HP:0002380	HP:0002380	Fasciculations	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0002380	HP:0002380	Fasciculations	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0002380	HP:0002380	Fasciculations	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0002380	HP:0002380	Fasciculations	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8		116
HP:0002380	HP:0002380	Fasciculations	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.	116
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent	63
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	.	63
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002380	HP:0002380	Fasciculations	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0002380	HP:0002380	Fasciculations	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0002380	HP:0002380	Fasciculations	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0002380	HP:0002380	Fasciculations	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0002380	HP:0002380	Fasciculations	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002380	HP:0002380	Fasciculations	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.	32
HP:0002380	HP:0002380	Fasciculations	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002380	HP:0001308	Tongue fasciculations	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0002380	HP:0001308	Tongue fasciculations	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	HP:0040284 - Very rare	1
HP:0002380	HP:0001308	Tongue fasciculations	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002380	HP:0001308	Tongue fasciculations	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0002380	HP:0001308	Tongue fasciculations	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent	60
HP:0002380	HP:0001308	Tongue fasciculations	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0002380	HP:0001308	Tongue fasciculations	1	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002380	HP:0001308	Tongue fasciculations	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0002380	HP:0007289	Limb fasciculations	1	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10		9
HP:0002380	HP:0007089	Facial-lingual fasciculations	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002380	HP:0007089	Facial-lingual fasciculations	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0002380	HP:0007089	Facial-lingual fasciculations	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0002380	HP:0007089	Facial-lingual fasciculations	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0002380	HP:0001308	Tongue fasciculations	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0002380	HP:0001308	Tongue fasciculations	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0002380	HP:0001308	Tongue fasciculations	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		58
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002380	HP:0001308	Tongue fasciculations	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0002380	HP:0001308	Tongue fasciculations	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0002380	HP:0001308	Tongue fasciculations	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002380	HP:0007289	Limb fasciculations	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent	12
HP:0002380	HP:0007289	Limb fasciculations	1	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent	47
HP:0002380	HP:0001308	Tongue fasciculations	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040283 - Occasional	4
HP:0002380	HP:0001308	Tongue fasciculations	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0002380	HP:0001308	Tongue fasciculations	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0002380	HP:0001308	Tongue fasciculations	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		134
HP:0002380	HP:0001308	Tongue fasciculations	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0002380	HP:0001308	Tongue fasciculations	1	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0002380	HP:0001308	Tongue fasciculations	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent	9
HP:0002380	HP:0001308	Tongue fasciculations	1	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.	62
HP:0002380	HP:0001308	Tongue fasciculations	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		79
HP:0002380	HP:0001308	Tongue fasciculations	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0002380	HP:0001308	Tongue fasciculations	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome		8
HP:0002380	HP:0001308	Tongue fasciculations	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas		170
HP:0002380	HP:0001308	Tongue fasciculations	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional	26
HP:0002380	HP:0001308	Tongue fasciculations	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0002380	HP:0001308	Tongue fasciculations	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0002380	HP:0001308	Tongue fasciculations	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493
HP:0002380	HP:0001308	Tongue fasciculations	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0002380	HP:0001308	Tongue fasciculations	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002380	HP:0001308	Tongue fasciculations	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.	47
HP:0002380	HP:0001308	Tongue fasciculations	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0002380	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.	22
HP:0002380	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0002380	HP:0007289	Limb fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0002380	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0002380	HP:0001308	Tongue fasciculations	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0002380	HP:0001308	Tongue fasciculations	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0002380	HP:0007289	Limb fasciculations	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0002380	HP:0001308	Tongue fasciculations	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0002380	HP:0001308	Tongue fasciculations	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0002380	HP:0001308	Tongue fasciculations	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002380	HP:0007289	Limb fasciculations	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040282 - Frequent	18
HP:0002380	HP:0001308	Tongue fasciculations	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002380	HP:0001308	Tongue fasciculations	1	TSPYL1 CL E G H	7259	12382	OMIM:608800	Sudden infant death with dysgenesis of the testes syndrome	.	1
HP:0002380	HP:0001308	Tongue fasciculations	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional	35
HP:0002380	HP:0001308	Tongue fasciculations	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0002380	HP:0001308	Tongue fasciculations	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040282 - Frequent	63
HP:0002380	HP:0007289	Limb fasciculations	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040282 - Frequent	63
HP:0002380	HP:0001308	Tongue fasciculations	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002380	HP:0001308	Tongue fasciculations	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002380	HP:0001308	Tongue fasciculations	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0002380	HP:0032507	Labiomental fasciculations	2	CL E G H