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:0001337	HP:0001337	Tremor	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0001337	HP:0001337	Tremor	0	AARS2 CL E G H	57505	21022	OMIM:615889	Leukoencephalopathy, progressive, with ovarian failure	.	143
HP:0001337	HP:0001337	Tremor	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0001337	HP:0001337	Tremor	0	AASS CL E G H	10157	17366	ORPHA:3124	Saccharopinuria	HP:0040283 - Occasional	15
HP:0001337	HP:0001337	Tremor	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0001337	HP:0001337	Tremor	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0001337	HP:0001337	Tremor	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0001337	HP:0001337	Tremor	0	ABCB7 CL E G H	22	48	OMIM:301310	Anemia, sideroblastic, and spinocerebellar ataxia		35
HP:0001337	HP:0001337	Tremor	0	ABHD12 CL E G H	26090	15868	OMIM:612674	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		50
HP:0001337	HP:0001337	Tremor	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0001337	HP:0001337	Tremor	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001337	HP:0001337	Tremor	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040283 - Occasional	22
HP:0001337	HP:0001337	Tremor	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.	22
HP:0001337	HP:0001337	Tremor	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.	129
HP:0001337	HP:0001337	Tremor	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0001337	HP:0001337	Tremor	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6	.	116
HP:0001337	HP:0001337	Tremor	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR		25
HP:0001337	HP:0001337	Tremor	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0001337	HP:0001337	Tremor	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0001337	HP:0001337	Tremor	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0001337	HP:0001337	Tremor	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0001337	HP:0001337	Tremor	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0001337	HP:0001337	Tremor	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001337	HP:0001337	Tremor	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy		3
HP:0001337	HP:0001337	Tremor	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0001337	HP:0001337	Tremor	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0001337	HP:0001337	Tremor	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0001337	HP:0001337	Tremor	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0001337	HP:0001337	Tremor	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040283 - Occasional	60
HP:0001337	HP:0001337	Tremor	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6		54
HP:0001337	HP:0001337	Tremor	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0001337	HP:0001337	Tremor	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B		89
HP:0001337	HP:0001337	Tremor	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B		89
HP:0001337	HP:0001337	Tremor	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant		89
HP:0001337	HP:0001337	Tremor	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional	89
HP:0001337	HP:0001337	Tremor	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0001337	HP:0001337	Tremor	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0001337	HP:0001337	Tremor	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	HP:0040283 - Occasional	44
HP:0001337	HP:0001337	Tremor	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4	HP:0040283 - Occasional	44
HP:0001337	HP:0001337	Tremor	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia		64
HP:0001337	HP:0001337	Tremor	0	ANO10 CL E G H	55129	25519	OMIM:613728	Spinocerebellar ataxia, autosomal recessive 10		64
HP:0001337	HP:0001337	Tremor	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0001337	HP:0001337	Tremor	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0001337	HP:0001337	Tremor	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0001337	HP:0001337	Tremor	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001337	HP:0001337	Tremor	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0001337	HP:0001337	Tremor	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.	61
HP:0001337	HP:0001337	Tremor	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.	125
HP:0001337	HP:0001337	Tremor	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0001337	HP:0001337	Tremor	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form		253
HP:0001337	HP:0001337	Tremor	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		253
HP:0001337	HP:0001337	Tremor	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0001337	HP:0001337	Tremor	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.	78
HP:0001337	HP:0001337	Tremor	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent	78
HP:0001337	HP:0001337	Tremor	0	ATCAY CL E G H	85300	779	ORPHA:94122	Cerebellar ataxia, Cayman type		72
HP:0001337	HP:0001337	Tremor	0	ATCAY CL E G H	85300	779	OMIM:601238	Cerebellar ataxia, Cayman type		72
HP:0001337	HP:0001337	Tremor	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0001337	HP:0001337	Tremor	0	ATM CL E G H	472	795	ORPHA:100	Ataxia-telangiectasia	HP:0040281 - Very frequent	3267
HP:0001337	HP:0001337	Tremor	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.	3267
HP:0001337	HP:0001337	Tremor	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy		16
HP:0001337	HP:0001337	Tremor	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent	100
HP:0001337	HP:0001337	Tremor	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0001337	HP:0001337	Tremor	0	ATP13A2 CL E G H	23400	30213	OMIM:617225	SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78		100
HP:0001337	HP:0001337	Tremor	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0001337	HP:0001337	Tremor	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2		239
HP:0001337	HP:0001337	Tremor	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0001337	HP:0001337	Tremor	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0001337	HP:0001337	Tremor	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0001337	HP:0001337	Tremor	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0001337	HP:0001337	Tremor	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0001337	HP:0001337	Tremor	0	ATP2B3 CL E G H	492	816	OMIM:302500	Spinocerebellar ataxia, X-linked 1		19
HP:0001337	HP:0001337	Tremor	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0001337	HP:0001337	Tremor	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0001337	HP:0001337	Tremor	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0001337	HP:0001337	Tremor	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0001337	HP:0001337	Tremor	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0001337	HP:0001337	Tremor	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.	315
HP:0001337	HP:0001337	Tremor	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0001337	HP:0001337	Tremor	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0001337	HP:0001337	Tremor	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10		9
HP:0001337	HP:0001337	Tremor	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0001337	HP:0001337	Tremor	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0001337	HP:0001337	Tremor	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2		11
HP:0001337	HP:0001337	Tremor	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0001337	HP:0001337	Tremor	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0001337	HP:0001337	Tremor	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001337	HP:0001337	Tremor	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.	1
HP:0001337	HP:0001337	Tremor	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0001337	HP:0001337	Tremor	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0001337	HP:0001337	Tremor	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	BEAN1 CL E G H	146227	24160	ORPHA:217012	Spinocerebellar ataxia type 31	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	.	20
HP:0001337	HP:0001337	Tremor	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17		105
HP:0001337	HP:0001337	Tremor	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.	105
HP:0001337	HP:0001337	Tremor	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent	105
HP:0001337	HP:0001337	Tremor	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17		105
HP:0001337	HP:0001337	Tremor	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0001337	HP:0001337	Tremor	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.	114
HP:0001337	HP:0001337	Tremor	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040283 - Occasional	56
HP:0001337	HP:0001337	Tremor	0	CA8 CL E G H	767	1382	OMIM:613227	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3	.	8
HP:0001337	HP:0001337	Tremor	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0001337	HP:0001337	Tremor	0	CACNA1A CL E G H	773	1388	OMIM:617106	Epileptic encephalopathy, early infantile, 42	.	449
HP:0001337	HP:0001337	Tremor	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	HP:0040283 - Occasional	449
HP:0001337	HP:0001337	Tremor	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0001337	HP:0001337	Tremor	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6		449
HP:0001337	HP:0001337	Tremor	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0001337	HP:0001337	Tremor	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42	HP:0040283 - Occasional	32
HP:0001337	HP:0001337	Tremor	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0001337	HP:0001337	Tremor	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	247
HP:0001337	HP:0001337	Tremor	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0001337	HP:0001337	Tremor	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0001337	HP:0001337	Tremor	0	CAMTA1 CL E G H	23261	18806	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability		34
HP:0001337	HP:0001337	Tremor	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001337	HP:0001337	Tremor	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0001337	HP:0001337	Tremor	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0001337	HP:0001337	Tremor	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	247
HP:0001337	HP:0001337	Tremor	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40		54
HP:0001337	HP:0001337	Tremor	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40		54
HP:0001337	HP:0001337	Tremor	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001337	HP:0001337	Tremor	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent	636
HP:0001337	HP:0001337	Tremor	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	405
HP:0001337	HP:0001337	Tremor	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0001337	HP:0001337	Tremor	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001337	HP:0001337	Tremor	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0001337	HP:0001337	Tremor	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0001337	HP:0001337	Tremor	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0001337	HP:0001337	Tremor	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0001337	HP:0001337	Tremor	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0001337	HP:0001337	Tremor	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional	11
HP:0001337	HP:0001337	Tremor	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	HP:0040283 - Occasional	11
HP:0001337	HP:0001337	Tremor	0	CHCHD2 CL E G H	51142	21645	OMIM:616710	Parkinson disease 22, autosomal dominant	.	3
HP:0001337	HP:0001337	Tremor	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0001337	HP:0001337	Tremor	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0001337	HP:0001337	Tremor	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0001337	HP:0001337	Tremor	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0001337	HP:0001337	Tremor	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0001337	HP:0001337	Tremor	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040283 - Occasional	141
HP:0001337	HP:0001337	Tremor	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001337	HP:0001337	Tremor	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0001337	HP:0001337	Tremor	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy		9
HP:0001337	HP:0001337	Tremor	0	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5	.	9
HP:0001337	HP:0001337	Tremor	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001337	HP:0001337	Tremor	0	COL6A3 CL E G H	1293	2213	OMIM:616411	Dystonia 27		702
HP:0001337	HP:0001337	Tremor	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0001337	HP:0001337	Tremor	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1		54
HP:0001337	HP:0001337	Tremor	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0001337	HP:0001337	Tremor	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0001337	HP:0001337	Tremor	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0001337	HP:0001337	Tremor	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001337	HP:0001337	Tremor	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional	136
HP:0001337	HP:0001337	Tremor	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional	136
HP:0001337	HP:0001337	Tremor	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0001337	HP:0001337	Tremor	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	CRAT CL E G H	1384	2342	OMIM:617917	Neurodegeneration with brain iron accumulation 8	.
HP:0001337	HP:0001337	Tremor	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0001337	HP:0001337	Tremor	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1		51
HP:0001337	HP:0001337	Tremor	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0001337	HP:0001337	Tremor	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0001337	HP:0001337	Tremor	0	CTH CL E G H	1491	2501	ORPHA:212	Cystathioninuria	HP:0040283 - Occasional	38
HP:0001337	HP:0001337	Tremor	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040283 - Occasional	10
HP:0001337	HP:0001337	Tremor	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy		15
HP:0001337	HP:0001337	Tremor	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.	20
HP:0001337	HP:0001337	Tremor	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type		38
HP:0001337	HP:0001337	Tremor	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040282 - Frequent	38
HP:0001337	HP:0001337	Tremor	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0001337	HP:0001337	Tremor	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17	.	9
HP:0001337	HP:0001337	Tremor	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0001337	HP:0001337	Tremor	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive		57
HP:0001337	HP:0001337	Tremor	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	DAB1 CL E G H	1600	2661	OMIM:615945	Spinocerebellar ataxia 37	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent	4
HP:0001337	HP:0001337	Tremor	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent	60
HP:0001337	HP:0001337	Tremor	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.	60
HP:0001337	HP:0001337	Tremor	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0001337	HP:0001337	Tremor	0	DCTN1 CL E G H	1639	2711	ORPHA:178509	Perry syndrome	HP:0040281 - Very frequent	86
HP:0001337	HP:0001337	Tremor	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0001337	HP:0001337	Tremor	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0001337	HP:0001337	Tremor	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0001337	HP:0001337	Tremor	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0001337	HP:0001337	Tremor	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0001337	HP:0001337	Tremor	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001337	HP:0001337	Tremor	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia		25
HP:0001337	HP:0001337	Tremor	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001337	HP:0001337	Tremor	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset	.	6
HP:0001337	HP:0001337	Tremor	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0001337	HP:0001337	Tremor	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0001337	HP:0001337	Tremor	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional	94
HP:0001337	HP:0001337	Tremor	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0001337	HP:0001337	Tremor	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	44
HP:0001337	HP:0001337	Tremor	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0001337	HP:0001337	Tremor	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare	38
HP:0001337	HP:0001337	Tremor	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001337	HP:0001337	Tremor	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1		21
HP:0001337	HP:0001337	Tremor	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0001337	HP:0001337	Tremor	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001337	HP:0001337	Tremor	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0001337	HP:0001337	Tremor	0	EIF4G1 CL E G H	1981	3296	OMIM:614251	Parkinson disease 18		2
HP:0001337	HP:0001337	Tremor	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0001337	HP:0001337	Tremor	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001337	HP:0001337	Tremor	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34		62
HP:0001337	HP:0001337	Tremor	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040284 - Very rare	4
HP:0001337	HP:0001337	Tremor	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	112
HP:0001337	HP:0001337	Tremor	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0001337	HP:0001337	Tremor	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy		106
HP:0001337	HP:0001337	Tremor	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy		54
HP:0001337	HP:0001337	Tremor	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0001337	HP:0001337	Tremor	0	ERCC4 CL E G H	2072	3436	OMIM:278760	Xeroderma pigmentosum, complementation group F	HP:0040283 - Occasional	158
HP:0001337	HP:0001337	Tremor	0	ERCC5 CL E G H	2073	3437	OMIM:278780	Xeroderma pigmentosum, complementation group G	HP:0040283 - Occasional	83
HP:0001337	HP:0001337	Tremor	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0001337	HP:0001337	Tremor	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0001337	HP:0001337	Tremor	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.	199
HP:0001337	HP:0001337	Tremor	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.	55
HP:0001337	HP:0001337	Tremor	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0001337	HP:0001337	Tremor	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0001337	HP:0001337	Tremor	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0001337	HP:0001337	Tremor	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0001337	HP:0001337	Tremor	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0001337	HP:0001337	Tremor	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77		36
HP:0001337	HP:0001337	Tremor	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0001337	HP:0001337	Tremor	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0001337	HP:0001337	Tremor	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0001337	HP:0001337	Tremor	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0001337	HP:0001337	Tremor	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040281 - Very frequent	47
HP:0001337	HP:0001337	Tremor	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0001337	HP:0001337	Tremor	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0001337	HP:0001337	Tremor	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0001337	HP:0001337	Tremor	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome		111
HP:0001337	HP:0001337	Tremor	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001337	HP:0001337	Tremor	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome		30
HP:0001337	HP:0001337	Tremor	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0001337	HP:0001337	Tremor	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0001337	HP:0001337	Tremor	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0001337	HP:0001337	Tremor	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0001337	HP:0001337	Tremor	0	FUS CL E G H	2521	4010	OMIM:614782	TREMOR, HEREDITARY ESSENTIAL, 4; ETM4		105
HP:0001337	HP:0001337	Tremor	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia		18
HP:0001337	HP:0001337	Tremor	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0001337	HP:0001337	Tremor	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent
HP:0001337	HP:0001337	Tremor	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0001337	HP:0001337	Tremor	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0001337	HP:0001337	Tremor	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0001337	HP:0001337	Tremor	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0001337	HP:0001337	Tremor	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0001337	HP:0001337	Tremor	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional	160
HP:0001337	HP:0001337	Tremor	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia		351
HP:0001337	HP:0001337	Tremor	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2		91
HP:0001337	HP:0001337	Tremor	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0001337	HP:0001337	Tremor	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0001337	HP:0001337	Tremor	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0001337	HP:0001337	Tremor	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0001337	HP:0001337	Tremor	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0001337	HP:0001337	Tremor	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0001337	HP:0001337	Tremor	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		86
HP:0001337	HP:0001337	Tremor	0	GCH1 CL E G H	2643	4193	OMIM:128230	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia		86
HP:0001337	HP:0001337	Tremor	0	GCH1 CL E G H	2643	4193	OMIM:233910	Hyperphenylalaninemia, BH4-deficient, B	.	86
HP:0001337	HP:0001337	Tremor	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency		237
HP:0001337	HP:0001337	Tremor	0	GGT1 CL E G H	2678	4250	OMIM:231950	GLUTATHIONURIA	HP:0040284 - Very rare
HP:0001337	HP:0001337	Tremor	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0001337	HP:0001337	Tremor	0	GIGYF2 CL E G H	26058	11960	OMIM:607688	PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK11		8
HP:0001337	HP:0001337	Tremor	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0001337	HP:0001337	Tremor	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0001337	HP:0001337	Tremor	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0001337	HP:0001337	Tremor	0	GJB1 CL E G H	2705	4283	ORPHA:101075	X-linked Charcot-Marie-Tooth disease type 1	HP:0040283 - Occasional	107
HP:0001337	HP:0001337	Tremor	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia		107
HP:0001337	HP:0001337	Tremor	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0001337	HP:0001337	Tremor	0	GJC2 CL E G H	57165	17494	OMIM:613206	Spastic paraplegia 44, autosomal recessive		37
HP:0001337	HP:0001337	Tremor	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0001337	HP:0001337	Tremor	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0001337	HP:0001337	Tremor	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.	88
HP:0001337	HP:0001337	Tremor	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001337	HP:0001337	Tremor	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0001337	HP:0001337	Tremor	0	GPT2 CL E G H	84706	18062	ORPHA:477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0001337	HP:0001337	Tremor	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	HP:0040283 - Occasional	32
HP:0001337	HP:0001337	Tremor	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0001337	HP:0001337	Tremor	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001337	HP:0001337	Tremor	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0001337	HP:0001337	Tremor	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	GSS CL E G H	2937	4624	OMIM:266130	Glutathione synthetase deficiency		39
HP:0001337	HP:0001337	Tremor	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy		2
HP:0001337	HP:0001337	Tremor	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy		3
HP:0001337	HP:0001337	Tremor	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001337	HP:0001337	Tremor	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001337	HP:0001337	Tremor	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001337	HP:0001337	Tremor	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001337	HP:0001337	Tremor	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0001337	HP:0001337	Tremor	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0001337	HP:0001337	Tremor	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0001337	HP:0001337	Tremor	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form		80
HP:0001337	HP:0001337	Tremor	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0001337	HP:0001337	Tremor	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040284 - Very rare	81
HP:0001337	HP:0001337	Tremor	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0001337	HP:0001337	Tremor	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0001337	HP:0001337	Tremor	0	HPCA CL E G H	3208	5144	OMIM:224500	Dystonia 2, torsion, autosomal recessive	.	4
HP:0001337	HP:0001337	Tremor	0	HPCA CL E G H	3208	5144	ORPHA:99657	Primary dystonia, DYT2 type	HP:0040282 - Frequent	4
HP:0001337	HP:0001337	Tremor	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0001337	HP:0001337	Tremor	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1		98
HP:0001337	HP:0001337	Tremor	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0001337	HP:0001337	Tremor	0	HTRA2 CL E G H	27429	14348	OMIM:610297	PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK13		39
HP:0001337	HP:0001337	Tremor	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	39
HP:0001337	HP:0001337	Tremor	0	HTT CL E G H	3064	4851	OMIM:617435	Lopes-Maciel-Rodan syndrome	.	12
HP:0001337	HP:0001337	Tremor	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0001337	HP:0001337	Tremor	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0001337	HP:0001337	Tremor	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0001337	HP:0001337	Tremor	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0001337	HP:0001337	Tremor	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001337	HP:0001337	Tremor	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		1
HP:0001337	HP:0001337	Tremor	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0001337	HP:0001337	Tremor	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	111
HP:0001337	HP:0001337	Tremor	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0001337	HP:0001337	Tremor	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.	3
HP:0001337	HP:0001337	Tremor	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0001337	HP:0001337	Tremor	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0001337	HP:0001337	Tremor	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0001337	HP:0001337	Tremor	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15		177
HP:0001337	HP:0001337	Tremor	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0001337	HP:0001337	Tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16		177
HP:0001337	HP:0001337	Tremor	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29		177
HP:0001337	HP:0001337	Tremor	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH		257
HP:0001337	HP:0001337	Tremor	0	JPH3 CL E G H	57338	14203	OMIM:606438	Huntington disease-like 2		2
HP:0001337	HP:0001337	Tremor	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0001337	HP:0001337	Tremor	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.	145
HP:0001337	HP:0001337	Tremor	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.	13
HP:0001337	HP:0001337	Tremor	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0001337	HP:0001337	Tremor	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0001337	HP:0001337	Tremor	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	.	6
HP:0001337	HP:0001337	Tremor	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0001337	HP:0001337	Tremor	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0001337	HP:0001337	Tremor	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome		121
HP:0001337	HP:0001337	Tremor	0	KCNJ10 CL E G H	3766	6256	OMIM:612780	Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance		121
HP:0001337	HP:0001337	Tremor	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040282 - Frequent	10
HP:0001337	HP:0001337	Tremor	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2		10
HP:0001337	HP:0001337	Tremor	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0001337	HP:0001337	Tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0001337	HP:0001337	Tremor	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001337	HP:0001337	Tremor	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0001337	HP:0001337	Tremor	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0001337	HP:0001337	Tremor	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent	38
HP:0001337	HP:0001337	Tremor	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0001337	HP:0001337	Tremor	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0001337	HP:0001337	Tremor	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset		11
HP:0001337	HP:0001337	Tremor	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0001337	HP:0001337	Tremor	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0001337	HP:0001337	Tremor	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:0001337	HP:0001337	Tremor	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent	68
HP:0001337	HP:0001337	Tremor	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	LMAN2L CL E G H	81562	19263	OMIM:617863			1
HP:0001337	HP:0001337	Tremor	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent	44
HP:0001337	HP:0001337	Tremor	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0001337	HP:0001337	Tremor	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001337	HP:0001337	Tremor	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0001337	HP:0001337	Tremor	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0001337	HP:0001337	Tremor	0	LRRK2 CL E G H	120892	18618	OMIM:607060	Parkinson disease 8, autosomal dominant		221
HP:0001337	HP:0001337	Tremor	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0001337	HP:0001337	Tremor	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001337	HP:0001337	Tremor	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome		239
HP:0001337	HP:0001337	Tremor	0	MAG CL E G H	4099	6783	ORPHA:459056	Autosomal recessive spastic paraplegia type 75		4
HP:0001337	HP:0001337	Tremor	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0001337	HP:0001337	Tremor	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome		22
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040283 - Occasional	140
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040282 - Frequent	140
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	OMIM:260540	Supranuclear palsy, progressive atypical	.	140
HP:0001337	HP:0001337	Tremor	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0001337	HP:0001337	Tremor	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy
HP:0001337	HP:0001337	Tremor	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0001337	HP:0001337	Tremor	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0001337	HP:0001337	Tremor	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0001337	HP:0001337	Tremor	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	950
HP:0001337	HP:0001337	Tremor	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0001337	HP:0001337	Tremor	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040282 - Frequent	950
HP:0001337	HP:0001337	Tremor	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent	462
HP:0001337	HP:0001337	Tremor	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001337	HP:0001337	Tremor	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0001337	HP:0001337	Tremor	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	HP:0040283 - Occasional	203
HP:0001337	HP:0001337	Tremor	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0001337	HP:0001337	Tremor	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0001337	HP:0001337	Tremor	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0001337	HP:0001337	Tremor	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0001337	HP:0001337	Tremor	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0001337	HP:0001337	Tremor	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.	113
HP:0001337	HP:0001337	Tremor	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001337	HP:0001337	Tremor	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0001337	HP:0001337	Tremor	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent	8
HP:0001337	HP:0001337	Tremor	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy		9
HP:0001337	HP:0001337	Tremor	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome		134
HP:0001337	HP:0001337	Tremor	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0001337	HP:0001337	Tremor	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0001337	HP:0001337	Tremor	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0001337	HP:0001337	Tremor	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32		1
HP:0001337	HP:0001337	Tremor	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001337	HP:0001337	Tremor	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001337	HP:0001337	Tremor	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional	29
HP:0001337	HP:0001337	Tremor	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0001337	HP:0001337	Tremor	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.	227
HP:0001337	HP:0001337	Tremor	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040283 - Occasional	227
HP:0001337	HP:0001337	Tremor	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0001337	HP:0001337	Tremor	0	MYO5A CL E G H	4644	7602	ORPHA:33445	Neuroectodermal melanolysosomal disease	HP:0040282 - Frequent	35
HP:0001337	HP:0001337	Tremor	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.	75
HP:0001337	HP:0001337	Tremor	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001337	HP:0001337	Tremor	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.	9
HP:0001337	HP:0001337	Tremor	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0001337	HP:0001337	Tremor	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0001337	HP:0001337	Tremor	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0001337	HP:0001337	Tremor	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D		82
HP:0001337	HP:0001337	Tremor	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0001337	HP:0001337	Tremor	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0001337	HP:0001337	Tremor	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0001337	HP:0001337	Tremor	0	NEMF CL E G H	9147	10663	OMIM:619099	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN		1
HP:0001337	HP:0001337	Tremor	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent	43
HP:0001337	HP:0001337	Tremor	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0001337	HP:0001337	Tremor	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0001337	HP:0001337	Tremor	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001337	HP:0001337	Tremor	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0001337	HP:0001337	Tremor	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001337	HP:0001337	Tremor	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0001337	HP:0001337	Tremor	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6		117
HP:0001337	HP:0001337	Tremor	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	HP:0040283 - Occasional	117
HP:0001337	HP:0001337	Tremor	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0001337	HP:0001337	Tremor	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0001337	HP:0001337	Tremor	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0001337	HP:0001337	Tremor	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0001337	HP:0001337	Tremor	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001337	HP:0001337	Tremor	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0001337	HP:0001337	Tremor	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001337	HP:0001337	Tremor	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001337	HP:0001337	Tremor	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0001337	HP:0001337	Tremor	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0001337	HP:0001337	Tremor	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0001337	HP:0001337	Tremor	0	NR4A2 CL E G H	4929	7981	OMIM:619911			27
HP:0001337	HP:0001337	Tremor	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia		27
HP:0001337	HP:0001337	Tremor	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0001337	HP:0001337	Tremor	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0001337	HP:0001337	Tremor	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001337	HP:0001337	Tremor	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0001337	HP:0001337	Tremor	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55		1
HP:0001337	HP:0001337	Tremor	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001337	HP:0001337	Tremor	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional	121
HP:0001337	HP:0001337	Tremor	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0001337	HP:0001337	Tremor	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0001337	HP:0001337	Tremor	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.	214
HP:0001337	HP:0001337	Tremor	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract		163
HP:0001337	HP:0001337	Tremor	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3		163
HP:0001337	HP:0001337	Tremor	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0001337	HP:0001337	Tremor	0	OXR1 CL E G H	55074	15822	OMIM:213000	Cerebellar hypoplasia	.	1
HP:0001337	HP:0001337	Tremor	0	PAH CL E G H	5053	8582	ORPHA:79254	Classic phenylketonuria	HP:0040282 - Frequent	641
HP:0001337	HP:0001337	Tremor	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0001337	HP:0001337	Tremor	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0001337	HP:0001337	Tremor	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0001337	HP:0001337	Tremor	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	23
HP:0001337	HP:0001337	Tremor	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0001337	HP:0001337	Tremor	0	PCBD1 CL E G H	5092	8646	OMIM:264070	Hyperphenylalaninemia, BH4-deficient, D	.	24
HP:0001337	HP:0001337	Tremor	0	PCBD1 CL E G H	5092	8646	ORPHA:1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	HP:0040283 - Occasional	24
HP:0001337	HP:0001337	Tremor	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0001337	HP:0001337	Tremor	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0001337	HP:0001337	Tremor	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0001337	HP:0001337	Tremor	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0001337	HP:0001337	Tremor	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0001337	HP:0001337	Tremor	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0001337	HP:0001337	Tremor	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0001337	HP:0001337	Tremor	0	PDYN CL E G H	5173	8820	OMIM:610245	Spinocerebellar ataxia 23	HP:0040283 - Occasional	52
HP:0001337	HP:0001337	Tremor	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B		75
HP:0001337	HP:0001337	Tremor	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0001337	HP:0001337	Tremor	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.	82
HP:0001337	HP:0001337	Tremor	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0001337	HP:0001337	Tremor	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0001337	HP:0001337	Tremor	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent	21
HP:0001337	HP:0001337	Tremor	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0001337	HP:0001337	Tremor	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0001337	HP:0001337	Tremor	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0001337	HP:0001337	Tremor	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001337	HP:0001337	Tremor	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0001337	HP:0001337	Tremor	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0001337	HP:0001337	Tremor	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001337	HP:0001337	Tremor	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5		162
HP:0001337	HP:0001337	Tremor	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0001337	HP:0001337	Tremor	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0001337	HP:0001337	Tremor	0	PINK1 CL E G H	65018	14581	OMIM:605909	Parkinson disease 6, autosomal recessive early-onset		55
HP:0001337	HP:0001337	Tremor	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	55
HP:0001337	HP:0001337	Tremor	0	PITRM1 CL E G H	10531	17663	OMIM:619405	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30		1
HP:0001337	HP:0001337	Tremor	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0001337	HP:0001337	Tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B		133
HP:0001337	HP:0001337	Tremor	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive	.	133
HP:0001337	HP:0001337	Tremor	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease	.	60
HP:0001337	HP:0001337	Tremor	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0001337	HP:0001337	Tremor	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form		60
HP:0001337	HP:0001337	Tremor	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001337	HP:0001337	Tremor	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0001337	HP:0001337	Tremor	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome		79
HP:0001337	HP:0001337	Tremor	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0001337	HP:0001337	Tremor	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional	7
HP:0001337	HP:0001337	Tremor	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0001337	HP:0001337	Tremor	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0001337	HP:0001337	Tremor	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0001337	HP:0001337	Tremor	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome		103
HP:0001337	HP:0001337	Tremor	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0001337	HP:0001337	Tremor	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0001337	HP:0001337	Tremor	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	464
HP:0001337	HP:0001337	Tremor	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0001337	HP:0001337	Tremor	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0001337	HP:0001337	Tremor	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0001337	HP:0001337	Tremor	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	45
HP:0001337	HP:0001337	Tremor	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11		38
HP:0001337	HP:0001337	Tremor	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0001337	HP:0001337	Tremor	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome		138
HP:0001337	HP:0001337	Tremor	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0001337	HP:0001337	Tremor	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0001337	HP:0001337	Tremor	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0001337	HP:0001337	Tremor	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0001337	HP:0001337	Tremor	0	POU4F1 CL E G H	5457	9218	OMIM:619352	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0001337	HP:0001337	Tremor	0	POU4F1 CL E G H	5457	9218	ORPHA:314647	Non-progressive cerebellar ataxia with intellectual disability
HP:0001337	HP:0001337	Tremor	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2		2
HP:0001337	HP:0001337	Tremor	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12		5
HP:0001337	HP:0001337	Tremor	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12		5
HP:0001337	HP:0001337	Tremor	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0001337	HP:0001337	Tremor	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001337	HP:0001337	Tremor	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0001337	HP:0001337	Tremor	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.	133
HP:0001337	HP:0001337	Tremor	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1		133
HP:0001337	HP:0001337	Tremor	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0001337	HP:0001337	Tremor	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional	83
HP:0001337	HP:0001337	Tremor	0	PRKN CL E G H	5071	8607	OMIM:600116	Parkinson disease, juvenile, type 2		138
HP:0001337	HP:0001337	Tremor	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	138
HP:0001337	HP:0001337	Tremor	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16		37
HP:0001337	HP:0001337	Tremor	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16		37
HP:0001337	HP:0001337	Tremor	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.	69
HP:0001337	HP:0001337	Tremor	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0001337	HP:0001337	Tremor	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0001337	HP:0001337	Tremor	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0001337	HP:0001337	Tremor	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001337	HP:0001337	Tremor	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040283 - Occasional	49
HP:0001337	HP:0001337	Tremor	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical		81
HP:0001337	HP:0001337	Tremor	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form		81
HP:0001337	HP:0001337	Tremor	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form		81
HP:0001337	HP:0001337	Tremor	0	PSAP CL E G H	5660	9498	OMIM:619491	PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24		81
HP:0001337	HP:0001337	Tremor	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1		948
HP:0001337	HP:0001337	Tremor	0	PTS CL E G H	5805	9689	OMIM:261640	Hyperphenylalaninemia, BH4-deficient, A	.	19
HP:0001337	HP:0001337	Tremor	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0001337	HP:0001337	Tremor	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.	43
HP:0001337	HP:0001337	Tremor	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001337	HP:0001337	Tremor	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome		34
HP:0001337	HP:0001337	Tremor	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0001337	HP:0001337	Tremor	0	RARS1 CL E G H	5917	9870	OMIM:616140	Leukodystrophy, hypomyelinating, 9
HP:0001337	HP:0001337	Tremor	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001337	HP:0001337	Tremor	0	REEP2 CL E G H	51308	17975	ORPHA:401849	Autosomal spastic paraplegia type 72		3
HP:0001337	HP:0001337	Tremor	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0001337	HP:0001337	Tremor	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	572
HP:0001337	HP:0001337	Tremor	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001337	HP:0001337	Tremor	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0001337	HP:0001337	Tremor	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001337	HP:0001337	Tremor	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0001337	HP:0001337	Tremor	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0001337	HP:0001337	Tremor	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0001337	HP:0001337	Tremor	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0001337	HP:0001337	Tremor	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy		3
HP:0001337	HP:0001337	Tremor	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation
HP:0001337	HP:0001337	Tremor	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0001337	HP:0001337	Tremor	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional	167
HP:0001337	HP:0001337	Tremor	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0001337	HP:0001337	Tremor	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35		10
HP:0001337	HP:0001337	Tremor	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	125
HP:0001337	HP:0001337	Tremor	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0001337	HP:0001337	Tremor	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy		2
HP:0001337	HP:0001337	Tremor	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1		2
HP:0001337	HP:0001337	Tremor	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0001337	HP:0001337	Tremor	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001337	HP:0001337	Tremor	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0001337	HP:0001337	Tremor	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure		77
HP:0001337	HP:0001337	Tremor	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1		77
HP:0001337	HP:0001337	Tremor	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0001337	HP:0001337	Tremor	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0001337	HP:0001337	Tremor	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0001337	HP:0001337	Tremor	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0001337	HP:0001337	Tremor	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0001337	HP:0001337	Tremor	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0001337	HP:0001337	Tremor	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0001337	HP:0001337	Tremor	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0001337	HP:0001337	Tremor	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0001337	HP:0001337	Tremor	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0001337	HP:0001337	Tremor	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0001337	HP:0001337	Tremor	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0001337	HP:0001337	Tremor	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0001337	HP:0001337	Tremor	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0001337	HP:0001337	Tremor	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome		5
HP:0001337	HP:0001337	Tremor	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.	5
HP:0001337	HP:0001337	Tremor	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0001337	HP:0001337	Tremor	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0001337	HP:0001337	Tremor	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0001337	HP:0001337	Tremor	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	237
HP:0001337	HP:0001337	Tremor	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0001337	HP:0001337	Tremor	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0001337	HP:0001337	Tremor	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040283 - Occasional	129
HP:0001337	HP:0001337	Tremor	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0001337	HP:0001337	Tremor	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001337	HP:0001337	Tremor	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0001337	HP:0001337	Tremor	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0001337	HP:0001337	Tremor	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0001337	HP:0001337	Tremor	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.	17
HP:0001337	HP:0001337	Tremor	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.	49
HP:0001337	HP:0001337	Tremor	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0001337	HP:0001337	Tremor	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0001337	HP:0001337	Tremor	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0001337	HP:0001337	Tremor	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0001337	HP:0001337	Tremor	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0001337	HP:0001337	Tremor	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0001337	HP:0001337	Tremor	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2	.	2
HP:0001337	HP:0001337	Tremor	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0001337	HP:0001337	Tremor	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0001337	HP:0001337	Tremor	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	63
HP:0001337	HP:0001337	Tremor	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0001337	HP:0001337	Tremor	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0001337	HP:0001337	Tremor	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0001337	HP:0001337	Tremor	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional	68
HP:0001337	HP:0001337	Tremor	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.	14
HP:0001337	HP:0001337	Tremor	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0001337	HP:0001337	Tremor	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0001337	HP:0001337	Tremor	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0001337	HP:0001337	Tremor	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1	.	42
HP:0001337	HP:0001337	Tremor	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001337	HP:0001337	Tremor	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0001337	HP:0001337	Tremor	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	.	5
HP:0001337	HP:0001337	Tremor	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0001337	HP:0001337	Tremor	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	HP:0040283 - Occasional	9
HP:0001337	HP:0001337	Tremor	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0001337	HP:0001337	Tremor	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	HP:0040283 - Occasional	29
HP:0001337	HP:0001337	Tremor	0	SLC6A17 CL E G H	388662	31399	OMIM:616269	Mental retardation, autosomal recessive 48		12
HP:0001337	HP:0001337	Tremor	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0001337	HP:0001337	Tremor	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0001337	HP:0001337	Tremor	0	SLC9A1 CL E G H	6548	11071	OMIM:616291	Lichtenstein-Knorr syndrome		2
HP:0001337	HP:0001337	Tremor	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional	135
HP:0001337	HP:0001337	Tremor	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0001337	HP:0001337	Tremor	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0001337	HP:0001337	Tremor	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0001337	HP:0001337	Tremor	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0001337	HP:0001337	Tremor	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0001337	HP:0001337	Tremor	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0001337	HP:0001337	Tremor	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant		65
HP:0001337	HP:0001337	Tremor	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0001337	HP:0001337	Tremor	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0001337	HP:0001337	Tremor	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0001337	HP:0001337	Tremor	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0001337	HP:0001337	Tremor	0	SNORD118 CL E G H	727676	32952	OMIM:614561	Leukoencephalopathy, brain calcifications, and cysts	.	6
HP:0001337	HP:0001337	Tremor	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0001337	HP:0001337	Tremor	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0001337	HP:0001337	Tremor	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0001337	HP:0001337	Tremor	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0001337	HP:0001337	Tremor	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	HP:0040283 - Occasional	287
HP:0001337	HP:0001337	Tremor	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0001337	HP:0001337	Tremor	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0001337	HP:0001337	Tremor	0	SPR CL E G H	6697	11257	OMIM:612716	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	.	28
HP:0001337	HP:0001337	Tremor	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0001337	HP:0001337	Tremor	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001337	HP:0001337	Tremor	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia		126
HP:0001337	HP:0001337	Tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0001337	HP:0001337	Tremor	0	SPTBN2 CL E G H	6712	11276	OMIM:615386	Spinocerebellar ataxia, autosomal recessive 14		126
HP:0001337	HP:0001337	Tremor	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0001337	HP:0001337	Tremor	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0001337	HP:0001337	Tremor	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0001337	HP:0001337	Tremor	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0001337	HP:0001337	Tremor	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0001337	HP:0001337	Tremor	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48		14
HP:0001337	HP:0001337	Tremor	0	STUB1 CL E G