Phenotype: Limb ataxia (HP:0002070)
Associated genes and diseases:
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: WASHC5
disease_id: ORPHA:100989
disease_name: Autosomal dominant spastic paraplegia type 8
SPG8
gene_symbol: BEAN1
disease_id: OMIM:117210
disease_name: SPINOCEREBELLAR ATAXIA 31
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: SYNE1
disease_id: OMIM:610743
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: PRICKLE1
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: CSTB
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: SCARB2
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: TBC1D24
disease_id: OMIM:605021
disease_name: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
gene_symbol: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
gene_symbol: KCNC3
disease_id: OMIM:605259
disease_name: SPINOCEREBELLAR ATAXIA 13
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: SQSTM1
disease_id: OMIM:617145
disease_name: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
gene_symbol: NOP56
disease_id: OMIM:614153
disease_name: SPINOCEREBELLAR ATAXIA 36
gene_symbol: NOP56
disease_id: ORPHA:276198
disease_name: Spinocerebellar ataxia type 36
Asidan
SCA36
gene_symbol: STUB1
disease_id: OMIM:615768
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16
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: COX6B1
disease_id: OMIM:619051
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7
gene_symbol: TTBK2
disease_id: OMIM:604432
disease_name: SPINOCEREBELLAR ATAXIA 11
gene_symbol: GRID2
disease_id: ORPHA:363432
disease_name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
SCAR18
gene_symbol: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: WWOX
disease_id: OMIM:614322
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
gene_symbol: WWOX
disease_id: ORPHA:284282
disease_name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive spinocerebellar ataxia type 12
SCAR12
gene_symbol: GPRC5B
disease_id: OMIM:620447
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: PDYN
disease_id: ORPHA:101108
disease_name: Spinocerebellar ataxia type 23
SCA23
gene_symbol: AFG3L2
disease_id: OMIM:610246
disease_name: SPINOCEREBELLAR ATAXIA 28
gene_symbol: AFG3L2
disease_id: ORPHA:101109
disease_name: Spinocerebellar ataxia type 28
SCA28
gene_symbol: PMPCA
disease_id: OMIM:213200
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: VPS13D
disease_id: ORPHA:95434
disease_name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
SCAR4
SCASI
gene_symbol: VPS41
disease_id: ORPHA:95434
disease_name: Autosomal recessive cerebellar ataxia-movement disorder syndrome
SCAR4
SCASI
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: CAPN1
disease_id: ORPHA:488594
disease_name: Autosomal recessive spastic paraplegia type 76
SPG76
gene_symbol: TGM6
disease_id: ORPHA:276193
disease_name: Spinocerebellar ataxia type 35
SCA35
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: ABCD1
disease_id: OMIM:300100
disease_name: ADRENOLEUKODYSTROPHY
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: FGF12
disease_id: OMIM:617166
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: UBAP1
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
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: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: FXN
disease_id: ORPHA:95
disease_name: Friedreich ataxia
FA
FRDA
gene_symbol: FXN
disease_id: OMIM:229300
disease_name: FRIEDREICH ATAXIA
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
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: PEX10
disease_id: ORPHA:247815
disease_name: Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxisomal disorder due to PEX10 deficiency
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: KCND3
disease_id: ORPHA:98772
disease_name: Spinocerebellar ataxia type 19/22
SCA19/22
gene_symbol: KCND3
disease_id: OMIM:607346
disease_name: SPINOCEREBELLAR ATAXIA 19
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: EEF2
disease_id: ORPHA:101112
disease_name: Spinocerebellar ataxia type 26
SCA26
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
gene_symbol: JAM2
disease_id: OMIM:618824
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: SYT14
disease_id: ORPHA:284271
disease_name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive spinocerebellar ataxia type 11
SCAR11
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: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: PRKCG
disease_id: ORPHA:98763
disease_name: Spinocerebellar ataxia type 14
SCA14
gene_symbol: ATN1
disease_id: ORPHA:101
disease_name: Dentatorubral pallidoluysian atrophy
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
gene_symbol: ATXN8
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8OS
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
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: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: RUBCN
disease_id: ORPHA:404499
disease_name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive spinocerebellar ataxia type 15
SCAR15
Salih ataxia
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: PRNP
disease_id: OMIM:137440
disease_name: GERSTMANN-STRAUSSLER DISEASE
gene_symbol: SCN1B
disease_id: OMIM:617350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52
gene_symbol: SDHA
disease_id: OMIM:619259
disease_name: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: VAMP1
disease_id: ORPHA:251282
disease_name: Autosomal dominant spastic ataxia type 1
SPAX1
gene_symbol: RTN2
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1