Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Involuntary movements (HP:0004305)

Parent Node:
Tremor (HP:0001337)

..Starting node
..Tremor by anatomical site (HP:0030188)

Term ID:

30188

Name:

Tremor by anatomical site

Synonym:

Tremor of a body part

Definition:

Tremor classified by the affected body part.

Comments:

Reference:

HP:0030188

Genes and Diseases:

Child Nodes:

........

Head tremor (HP:0002346)

................... HP:0002599 Head titubation

........

Hand tremor (HP:0002378)

........

Limb tremor (HP:0200085)

................... HP:0007351 Upper limb postural tremor

Sister Nodes:

Action tremor (HP:0002345)

Resting tremor (HP:0002322)

Rubral tremor (HP:0030665)

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:0030188	HP:0030188	Tremor by anatomical site	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0030188	HP:0030188	Tremor by anatomical site	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0030188	HP:0030188	Tremor by anatomical site	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy		3
HP:0030188	HP:0030188	Tremor by anatomical site	0	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28		86
HP:0030188	HP:0030188	Tremor by anatomical site	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030188	HP:0030188	Tremor by anatomical site	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0030188	HP:0030188	Tremor by anatomical site	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0030188	HP:0030188	Tremor by anatomical site	0	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0030188	HP:0030188	Tremor by anatomical site	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030188	HP:0030188	Tremor by anatomical site	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration		114
HP:0030188	HP:0030188	Tremor by anatomical site	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0030188	HP:0030188	Tremor by anatomical site	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0030188	HP:0030188	Tremor by anatomical site	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0030188	HP:0030188	Tremor by anatomical site	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0030188	HP:0030188	Tremor by anatomical site	0	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0030188	HP:0030188	Tremor by anatomical site	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type		16
HP:0030188	HP:0030188	Tremor by anatomical site	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy		9
HP:0030188	HP:0030188	Tremor by anatomical site	0	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0030188	HP:0030188	Tremor by anatomical site	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy		15
HP:0030188	HP:0030188	Tremor by anatomical site	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0030188	HP:0030188	Tremor by anatomical site	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0030188	HP:0030188	Tremor by anatomical site	0	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1		21
HP:0030188	HP:0030188	Tremor by anatomical site	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0030188	HP:0030188	Tremor by anatomical site	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18		18
HP:0030188	HP:0030188	Tremor by anatomical site	0	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome		18
HP:0030188	HP:0030188	Tremor by anatomical site	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27		47
HP:0030188	HP:0030188	Tremor by anatomical site	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0030188	HP:0030188	Tremor by anatomical site	0	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity		30
HP:0030188	HP:0030188	Tremor by anatomical site	0	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46		30
HP:0030188	HP:0030188	Tremor by anatomical site	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0030188	HP:0030188	Tremor by anatomical site	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency		237
HP:0030188	HP:0030188	Tremor by anatomical site	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030188	HP:0030188	Tremor by anatomical site	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030188	HP:0030188	Tremor by anatomical site	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0030188	HP:0030188	Tremor by anatomical site	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0030188	HP:0030188	Tremor by anatomical site	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0030188	HP:0030188	Tremor by anatomical site	0	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0030188	HP:0030188	Tremor by anatomical site	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0030188	HP:0030188	Tremor by anatomical site	0	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0030188	HP:0030188	Tremor by anatomical site	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0030188	HP:0030188	Tremor by anatomical site	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030188	HP:0030188	Tremor by anatomical site	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy
HP:0030188	HP:0030188	Tremor by anatomical site	0	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70
HP:0030188	HP:0030188	Tremor by anatomical site	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2		203
HP:0030188	HP:0030188	Tremor by anatomical site	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z		8
HP:0030188	HP:0030188	Tremor by anatomical site	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030188	HP:0030188	Tremor by anatomical site	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0030188	HP:0030188	Tremor by anatomical site	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0030188	HP:0030188	Tremor by anatomical site	0	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0030188	HP:0030188	Tremor by anatomical site	0	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0030188	HP:0030188	Tremor by anatomical site	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36		9
HP:0030188	HP:0030188	Tremor by anatomical site	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0030188	HP:0030188	Tremor by anatomical site	0	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6		4
HP:0030188	HP:0030188	Tremor by anatomical site	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6		4
HP:0030188	HP:0030188	Tremor by anatomical site	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0030188	HP:0030188	Tremor by anatomical site	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome		98
HP:0030188	HP:0030188	Tremor by anatomical site	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67		20
HP:0030188	HP:0030188	Tremor by anatomical site	0	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0030188	HP:0030188	Tremor by anatomical site	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0030188	HP:0030188	Tremor by anatomical site	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		11
HP:0030188	HP:0030188	Tremor by anatomical site	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0030188	HP:0030188	Tremor by anatomical site	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0030188	HP:0030188	Tremor by anatomical site	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0030188	HP:0030188	Tremor by anatomical site	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030188	HP:0030188	Tremor by anatomical site	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0030188	HP:0030188	Tremor by anatomical site	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12		5
HP:0030188	HP:0030188	Tremor by anatomical site	0	PPP2R2B CL E G H	5521	9305	ORPHA:98762	Spinocerebellar ataxia type 12	HP:0040282 - Frequent	5
HP:0030188	HP:0030188	Tremor by anatomical site	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69		135
HP:0030188	HP:0030188	Tremor by anatomical site	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy		2
HP:0030188	HP:0030188	Tremor by anatomical site	0	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy		4
HP:0030188	HP:0030188	Tremor by anatomical site	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2		162
HP:0030188	HP:0030188	Tremor by anatomical site	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030188	HP:0030188	Tremor by anatomical site	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0030188	HP:0030188	Tremor by anatomical site	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0030188	HP:0030188	Tremor by anatomical site	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0030188	HP:0030188	Tremor by anatomical site	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome		12
HP:0030188	HP:0030188	Tremor by anatomical site	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II		22
HP:0030188	HP:0030188	Tremor by anatomical site	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III		22
HP:0030188	HP:0030188	Tremor by anatomical site	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV		22
HP:0030188	HP:0030188	Tremor by anatomical site	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0030188	HP:0030188	Tremor by anatomical site	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0030188	HP:0030188	Tremor by anatomical site	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030188	HP:0030188	Tremor by anatomical site	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0030188	HP:0030188	Tremor by anatomical site	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030188	HP:0030188	Tremor by anatomical site	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency		14
HP:0030188	HP:0030188	Tremor by anatomical site	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism		21
HP:0030188	HP:0030188	Tremor by anatomical site	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0030188	HP:0030188	Tremor by anatomical site	0	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5		5
HP:0030188	HP:0030188	Tremor by anatomical site	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type		18
HP:0030188	HP:0030188	Tremor by anatomical site	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030188	HP:0030188	Tremor by anatomical site	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030188	HP:0030188	Tremor by anatomical site	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0030188	HP:0030188	Tremor by anatomical site	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism		97
HP:0030188	HP:0030188	Tremor by anatomical site	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor		97
HP:0030188	HP:0030188	Tremor by anatomical site	0	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0030188	HP:0030188	Tremor by anatomical site	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0030188	HP:0030188	Tremor by anatomical site	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0030188	HP:0030188	Tremor by anatomical site	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030188	HP:0030188	Tremor by anatomical site	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030188	HP:0030188	Tremor by anatomical site	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71		1
HP:0030188	HP:0030188	Tremor by anatomical site	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15		189
HP:0030188	HP:0032006	Lip tremor	1	CL E G H
HP:0030188	HP:0002346	Head tremor	1	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0030188	HP:0002378	Hand tremor	1	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak		20
HP:0030188	HP:0002378	Hand tremor	1	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	3
HP:0030188	HP:0002346	Head tremor	1	AFG3L2 CL E G H	10939	315	ORPHA:101109	Spinocerebellar ataxia type 28	HP:0040284 - Very rare	86
HP:0030188	HP:0002346	Head tremor	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030188	HP:0002346	Head tremor	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		114
HP:0030188	HP:0200085	Limb tremor	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement		17
HP:0030188	HP:0002378	Hand tremor	1	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0030188	HP:0002346	Head tremor	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0030188	HP:0200085	Limb tremor	1	ANO3 CL E G H	63982	14004	OMIM:615034	Dystonia 24		17
HP:0030188	HP:0002378	Hand tremor	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0030188	HP:0002378	Hand tremor	1	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent	114
HP:0030188	HP:0002346	Head tremor	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0030188	HP:0200085	Limb tremor	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42		32
HP:0030188	HP:0002378	Hand tremor	1	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation		34
HP:0030188	HP:0200085	Limb tremor	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0030188	HP:0200085	Limb tremor	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0030188	HP:0002346	Head tremor	1	CEP104 CL E G H	9731	24866	OMIM:619988			5
HP:0030188	HP:0002346	Head tremor	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16
HP:0030188	HP:0200085	Limb tremor	1	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent	16
HP:0030188	HP:0002378	Hand tremor	1	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	9
HP:0030188	HP:0200085	Limb tremor	1	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type		702
HP:0030188	HP:0002378	Hand tremor	1	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	15
HP:0030188	HP:0200085	Limb tremor	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0030188	HP:0002346	Head tremor	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0030188	HP:0002378	Hand tremor	1	DRD3 CL E G H	1814	3024	OMIM:190300	Tremor, hereditary essential, 1	.	21
HP:0030188	HP:0002346	Head tremor	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0030188	HP:0002378	Hand tremor	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040283 - Occasional	18
HP:0030188	HP:0002378	Hand tremor	1	ERLIN2 CL E G H	11160	1356	ORPHA:280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	HP:0040283 - Occasional	18
HP:0030188	HP:0002378	Hand tremor	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional	47
HP:0030188	HP:0002346	Head tremor	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		105
HP:0030188	HP:0002346	Head tremor	1	GBA2 CL E G H	57704	18986	ORPHA:352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	HP:0040283 - Occasional	30
HP:0030188	HP:0002346	Head tremor	1	GBA2 CL E G H	57704	18986	ORPHA:320391	Autosomal recessive spastic paraplegia type 46	HP:0040283 - Occasional	30
HP:0030188	HP:0002378	Hand tremor	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0030188	HP:0002346	Head tremor	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	HP:0040283 - Occasional	30
HP:0030188	HP:0002378	Hand tremor	1	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040282 - Frequent	237
HP:0030188	HP:0002378	Hand tremor	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1		107
HP:0030188	HP:0002346	Head tremor	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0030188	HP:0200085	Limb tremor	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0030188	HP:0002346	Head tremor	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0030188	HP:0002346	Head tremor	1	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040283 - Occasional	1
HP:0030188	HP:0200085	Limb tremor	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35		8
HP:0030188	HP:0200085	Limb tremor	1	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16		177
HP:0030188	HP:0002346	Head tremor	1	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0030188	HP:0002378	Hand tremor	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0030188	HP:0002346	Head tremor	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0030188	HP:0002346	Head tremor	1	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive		38
HP:0030188	HP:0002346	Head tremor	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0030188	HP:0200085	Limb tremor	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030188	HP:0002346	Head tremor	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy		44
HP:0030188	HP:0002378	Hand tremor	1	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent
HP:0030188	HP:0002378	Hand tremor	1	MARS1 CL E G H	4141	6898	ORPHA:401835	Autosomal recessive spastic paraplegia type 70	HP:0040282 - Frequent
HP:0030188	HP:0002378	Hand tremor	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent	203
HP:0030188	HP:0031947	Tongue tremor	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional	8
HP:0030188	HP:0200085	Limb tremor	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		134
HP:0030188	HP:0031947	Tongue tremor	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM		66
HP:0030188	HP:0002346	Head tremor	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0030188	HP:0002378	Hand tremor	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent	118
HP:0030188	HP:0002346	Head tremor	1	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy		2
HP:0030188	HP:0002346	Head tremor	1	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy		2
HP:0030188	HP:0002346	Head tremor	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0030188	HP:0002378	Hand tremor	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare	9
HP:0030188	HP:0002346	Head tremor	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:618866	TREMOR, HEREDITARY ESSENTIAL, 6; ETM6
HP:0030188	HP:0002378	Hand tremor	1	PDK3 CL E G H	5165	8811	OMIM:300905	Charcot-Marie-Tooth disease, X-linked dominant, 6	.	4
HP:0030188	HP:0002378	Hand tremor	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent	4
HP:0030188	HP:0200085	Limb tremor	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B		59
HP:0030188	HP:0002346	Head tremor	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98
HP:0030188	HP:0200085	Limb tremor	1	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0030188	HP:0002378	Hand tremor	1	PHIP CL E G H	55023	15673	ORPHA:589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome		11
HP:0030188	HP:0002346	Head tremor	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0030188	HP:0002346	Head tremor	1	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	11
HP:0030188	HP:0200085	Limb tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0030188	HP:0002378	Hand tremor	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0030188	HP:0002346	Head tremor	1	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0030188	HP:0002346	Head tremor	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent	60
HP:0030188	HP:0002378	Hand tremor	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G		1
HP:0030188	HP:0200085	Limb tremor	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia		79
HP:0030188	HP:0002378	Hand tremor	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0030188	HP:0002346	Head tremor	1	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12	.	5
HP:0030188	HP:0002378	Hand tremor	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0030188	HP:0002378	Hand tremor	1	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	2
HP:0030188	HP:0002346	Head tremor	1	SCP2 CL E G H	6342	10606	OMIM:613724	Leukoencephalopathy with dystonia and motor neuropathy	.	4
HP:0030188	HP:0002346	Head tremor	1	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040283 - Occasional	162
HP:0030188	HP:0002346	Head tremor	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1		162
HP:0030188	HP:0002346	Head tremor	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040283 - Occasional	493
HP:0030188	HP:0002346	Head tremor	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		6
HP:0030188	HP:0200085	Limb tremor	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0030188	HP:0002378	Hand tremor	1	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0030188	HP:0002378	Hand tremor	1	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.	22
HP:0030188	HP:0002378	Hand tremor	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.	22
HP:0030188	HP:0002378	Hand tremor	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.	22
HP:0030188	HP:0002378	Hand tremor	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.	1
HP:0030188	HP:0200085	Limb tremor	1	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome	.	37
HP:0030188	HP:0002346	Head tremor	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		287
HP:0030188	HP:0002346	Head tremor	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030188	HP:0002346	Head tremor	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis		54
HP:0030188	HP:0002378	Hand tremor	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0030188	HP:0002378	Hand tremor	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0030188	HP:0002346	Head tremor	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040283 - Occasional	14
HP:0030188	HP:0002378	Hand tremor	1	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent	21
HP:0030188	HP:0002378	Hand tremor	1	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp		271
HP:0030188	HP:0031947	Tongue tremor	1	TENM4 CL E G H	26011	29945	OMIM:616736	Tremor, hereditary essential, 5	HP:0040284 - Very rare	5
HP:0030188	HP:0002378	Hand tremor	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	HP:0040283 - Occasional	18
HP:0030188	HP:0002346	Head tremor	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030188	HP:0002378	Hand tremor	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0030188	HP:0002378	Hand tremor	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0030188	HP:0002346	Head tremor	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0030188	HP:0002378	Hand tremor	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0030188	HP:0002378	Hand tremor	1	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0030188	HP:0200085	Limb tremor	1	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type		66
HP:0030188	HP:0200085	Limb tremor	1	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome	.	278
HP:0030188	HP:0002346	Head tremor	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive		21
HP:0030188	HP:0002346	Head tremor	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030188	HP:0002378	Hand tremor	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030188	HP:0002378	Hand tremor	1	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent	1
HP:0030188	HP:0002378	Hand tremor	1	ZFR CL E G H	51663	17277	ORPHA:401840	Autosomal recessive spastic paraplegia type 71	HP:0040282 - Frequent	1
HP:0030188	HP:0002378	Hand tremor	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0030188	HP:0002599	Head titubation	2	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0030188	HP:0002599	Head titubation	2	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0030188	HP:0002599	Head titubation	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	114
HP:0030188	HP:0007351	Upper limb postural tremor	2	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional	17
HP:0030188	HP:0007351	Upper limb postural tremor	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional	32
HP:0030188	HP:0007351	Upper limb postural tremor	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional	35
HP:0030188	HP:0007351	Upper limb postural tremor	2	COL6A3 CL E G H	1293	2213	ORPHA:464440	Primary dystonia, DYT27 type	HP:0040282 - Frequent	702
HP:0030188	HP:0002599	Head titubation	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0030188	HP:0002599	Head titubation	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	105
HP:0030188	HP:0002599	Head titubation	2	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.	37
HP:0030188	HP:0002599	Head titubation	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare	32
HP:0030188	HP:0007351	Upper limb postural tremor	2	ITPR1 CL E G H	3708	6180	ORPHA:98769	Spinocerebellar ataxia type 15/16	HP:0040282 - Frequent	177
HP:0030188	HP:0002599	Head titubation	2	KIF1C CL E G H	10749	6317	OMIM:611302	Spastic ataxia 2, autosomal recessive	.	38
HP:0030188	HP:0002599	Head titubation	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040283 - Occasional	35
HP:0030188	HP:0002599	Head titubation	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0030188	HP:0007351	Upper limb postural tremor	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040283 - Occasional	44
HP:0030188	HP:0007351	Upper limb postural tremor	2	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	134
HP:0030188	HP:0002599	Head titubation	2	NKX6-2 CL E G H	84504	19321	ORPHA:527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	2
HP:0030188	HP:0002599	Head titubation	2	NKX6-2 CL E G H	84504	19321	OMIM:617560	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	.	2
HP:0030188	HP:0002599	Head titubation	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2		11
HP:0030188	HP:0007351	Upper limb postural tremor	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0030188	HP:0002599	Head titubation	2	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0030188	HP:0007351	Upper limb postural tremor	2	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.	79
HP:0030188	HP:0002599	Head titubation	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	6
HP:0030188	HP:0002599	Head titubation	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	287
HP:0030188	HP:0002599	Head titubation	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0030188	HP:0002599	Head titubation	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional	54
HP:0030188	HP:0002599	Head titubation	2	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0030188	HP:0007351	Upper limb postural tremor	2	TUBB4A CL E G H	10382	20774	ORPHA:98805	Primary dystonia, DYT4 type	HP:0040283 - Occasional	66
HP:0030188	HP:0002599	Head titubation	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.	21
HP:0030188	HP:0002599	Head titubation	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (92) :AARS1 ABCB6 ADRA2B AFG3L2 ALS2 ANO3 ATP7B C19ORF12 CACNA1G CAMTA1 CARS2 CDC42BPB CEP104 CIZ1 CNTN2 COL6A3 CTNND2 DDC DNMT1 DRD3 EIF2AK2 ERLIN2 FGF14 FUS GBA2 GCK GJB1 GJC2 GRIA3 HIBCH IFRD1 ITPA ITPR1 KCNN2 KIF1C LAMA1 LMNB1 MARCHF6 MARS1 MFN2 MORC2 MPZ MYBPC1 NEFL NKX6-2 NOP56 NOTCH2NLC PDK3 PEX16 PEX6 PGAP1 PHIP PI4KA PIK3R5 PLA2G6 PLP1 PMP2 PMP22 POLG PPP2R2B RAB3GAP2 SAMD12 SCP2 SETX SH3TC2 SIGMAR1 SLC12A6 SLC6A17 SMN1 SMN2 SNRPN SPG11 SPTBN1 SPTLC1 STUB1 TAF1 TBC1D24 TENM4 TFG TMEM63A TOR1A TRAPPC6B TRIM8 TSHR TUBB4A UBE3A UCHL1 VPS13A VRK1 YEATS2 ZFR ZFYVE26

Diseases (93) :OMIM:619691 OMIM:609153 ORPHA:86814 ORPHA:101109 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:277900 ORPHA:289560 ORPHA:458803 OMIM:614756 ORPHA:477774 OMIM:619841 OMIM:619988 ORPHA:420492 ORPHA:464440 OMIM:608643 ORPHA:314404 OMIM:190300 OMIM:618877 ORPHA:209951 ORPHA:280384 ORPHA:98764 ORPHA:352641 ORPHA:320391 OMIM:614409 ORPHA:79299 OMIM:302800 OMIM:608804 OMIM:300699 ORPHA:88639 ORPHA:98771 OMIM:616647 ORPHA:98769 OMIM:619724 OMIM:611302 ORPHA:370022 ORPHA:99027 ORPHA:401835 ORPHA:99947 ORPHA:466768 OMIM:180800 OMIM:618524 ORPHA:101085 ORPHA:527497 OMIM:617560 ORPHA:276198 OMIM:618866 OMIM:300905 ORPHA:352675 OMIM:614877 ORPHA:95433 ORPHA:401820 ORPHA:589905 OMIM:619708 ORPHA:64753 OMIM:612953 OMIM:312080 ORPHA:280219 OMIM:618279 OMIM:157640 OMIM:604326 ORPHA:98762 ORPHA:401830 OMIM:613724 OMIM:606002 ORPHA:99949 OMIM:218000 ORPHA:457212 OMIM:253550 OMIM:253400 OMIM:271150 OMIM:105830 OMIM:619475 OMIM:162400 ORPHA:412057 ORPHA:53351 OMIM:608105 OMIM:616736 OMIM:604484 OMIM:618688 OMIM:618947 OMIM:617862 OMIM:619428 ORPHA:99819 ORPHA:424 ORPHA:98805 OMIM:615491 ORPHA:2388 OMIM:607596 ORPHA:401840 ORPHA:100996

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen