Phenotype: Postural tremor (HP:0002174)
Associated genes and diseases:
gene_symbol: RILPL1
disease_id: OMIM:619790
disease_name: OCULOPHARYNGODISTAL MYOPATHY 4
gene_symbol: GCH1
disease_id: OMIM:128230
disease_name: DYSTONIA, DOPA-RESPONSIVE
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: FUS
disease_id: OMIM:614782
disease_name: TREMOR, HEREDITARY ESSENTIAL, 4
gene_symbol: NIPA1
disease_id: ORPHA:100988
disease_name: Autosomal dominant spastic paraplegia type 6
SPG6
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: PIK3R5
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: SETX
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: NOTCH2NLC
disease_id: OMIM:618866
disease_name: TREMOR, HEREDITARY ESSENTIAL, 6
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: ATXN2
disease_id: ORPHA:98756
disease_name: Spinocerebellar ataxia type 2
SCA2
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
gene_symbol: COL6A3
disease_id: OMIM:616411
disease_name: DYSTONIA 27
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: ATP13A2
disease_id: ORPHA:314632
disease_name: CLN12 disease
ATP13A2-related juvenile neuronal ceroid lipofuscinosis
Juvenile parkinsonism-neuronal ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis type 12
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: TPP1
disease_id: ORPHA:284324
disease_name: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 7
SCAR7
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: PRKRA
disease_id: ORPHA:210571
disease_name: Dystonia 16
DYT16
Early-onset dystonia parkinsonism
gene_symbol: PRKRA
disease_id: OMIM:612067
disease_name: DYSTONIA 16
gene_symbol: GRIK2
disease_id: OMIM:611092
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: STUB1
disease_id: ORPHA:412057
disease_name: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
SCAR16
Spinocerebellar ataxia autosomal recessive type 16
gene_symbol: MYBPC1
disease_id: OMIM:618524
disease_name: MYOPATHY, CONGENITAL, WITH TREMOR
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: ALDH18A1
disease_id: ORPHA:447757
disease_name: Autosomal dominant spastic paraplegia type 9B
AD-SPG9B
gene_symbol: ALDH18A1
disease_id: ORPHA:447760
disease_name: Autosomal recessive spastic paraplegia type 9B
AR-SPG9B
gene_symbol: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: BSCL2
disease_id: ORPHA:100998
disease_name: Autosomal dominant spastic paraplegia type 17
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
gene_symbol: VAPB
disease_id: OMIM:608627
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 8
gene_symbol: NDRG1
disease_id: ORPHA:99950
disease_name: Charcot-Marie-Tooth disease type 4D
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: PARK7
disease_id: OMIM:606324
disease_name: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: REEP2
disease_id: ORPHA:401849
disease_name: Autosomal spastic paraplegia type 72
SPG72
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: DRD3
disease_id: OMIM:190300
disease_name: TREMOR, HEREDITARY ESSENTIAL, 1
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: SCARB2
disease_id: OMIM:254900
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: TUBB4A
disease_id: ORPHA:98805
disease_name: Primary dystonia, DYT4 type
DYT4
Hereditary whispering dysphonia
gene_symbol: PLA2G6
disease_id: OMIM:612953
disease_name: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CARS2
disease_id: ORPHA:477774
disease_name: Combined oxidative phosphorylation defect type 27
COXPD27
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: ANO3
disease_id: ORPHA:420485
disease_name: Cranio-cervical dystonia with laryngeal and upper-limb involvement
DYT24
Dystonia 24