SCA17
MCID: SPN296
MIFTS: 48

Spinocerebellar Ataxia 17 (SCA17)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 17

MalaCards integrated aliases for Spinocerebellar Ataxia 17:

Name: Spinocerebellar Ataxia 17 58 54 76 30 13 6 74
Spinocerebellar Ataxia Type 17 12 25 54 60 15
Sca17 58 25 60 76 56
Huntington Disease-Like 4 58 25 60 76
Hdl4 58 25 60 76
Ataxia, Spinocerebellar, Type 17 41
Huntington Disease-Like 4; Hdl4 58
Sca 17 54

Characteristics:

Orphanet epidemiological data:

60
spinocerebellar ataxia type 17
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide),<1/1000000 (Japan),1-9/1000000 (United Kingdom); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
median age at onset 23 years
psychiatric symptoms may be the presenting sign
normal alleles have 25 to 44 repeats
mutant alleles have 47 to 63 repeats
those with intermediate repeat expansions show reduced penetrance


HPO:

33
spinocerebellar ataxia 17:
Onset and clinical course progressive
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance The penetrance of alleles of 41 to 44 repeats is estimated at 50% and the penetrance of alleles of 45 to 48 repeats is estimated at greater than 80% [toyoshima et al 2004]...

Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia 17

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98759Disease definitionSpinocerebellar ataxia type 17 (SCA17) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.EpidemiologyWorldwide prevalence is unknown. Local prevalence is 0.47 per 1,000,000 in the Japanese population and 0.16 per 100,000 in North-East England. Fewer than 100 families have been reported to date.Clinical descriptionClinical features overlap with many neurodegenerative syndromes and specifically, Huntington disease (see this term).EtiologySCA17 is caused by a CAG repeat expansion in the TATA box-binding proteingeneTBP (6q27).PrognosisPrognosis is poor. More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 17, also known as spinocerebellar ataxia type 17, is related to choreatic disease and autosomal dominant cerebellar ataxia, and has symptoms including seizures, myoclonus and gait ataxia. An important gene associated with Spinocerebellar Ataxia 17 is TBP (TATA-Box Binding Protein). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are ataxia and gait disturbance

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has material basis in CAG repeat expansion in the TBP gene.

OMIM : 58 SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)). For a general discussion of autosomal dominant of spinocerebellar ataxia, see SCA1 (164400). (607136)

UniProtKB/Swiss-Prot : 76 Spinocerebellar ataxia 17: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA17 is an autosomal dominant cerebellar ataxia (ADCA) characterized by widespread cerebral and cerebellar atrophy, dementia and extrapyramidal signs. The molecular defect in SCA17 is the expansion of a CAG repeat in the coding region of TBP. Longer expansions result in earlier onset and more severe clinical manifestations of the disease.

GeneReviews: NBK1438

Related Diseases for Spinocerebellar Ataxia 17

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 choreatic disease 30.0 JPH3 TBP
2 autosomal dominant cerebellar ataxia 29.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
3 aceruloplasminemia 28.8 ATXN3 ATXN7 CACNA1A TBP
4 huntington disease 28.7 ATN1 ATXN3 HAP1 JPH3 TBP
5 spinocerebellar ataxia 12 28.4 ATN1 ATXN3 ATXN7 CACNA1A TBP
6 huntington disease-like syndrome 11.5
7 spinocerebellar ataxia, autosomal recessive 17 11.3
8 ataxia and polyneuropathy, adult-onset 10.4
9 anxiety 10.2
10 epilepsy 10.2
11 parkinson disease, late-onset 10.2
12 spinocerebellar ataxia 10 10.1
13 spinocerebellar ataxia 8 10.1
14 huntington disease-like 1 10.0 JPH3 TBP
15 aural atresia, congenital 10.0
16 focal dystonia 10.0
17 dystonia 10.0
18 fragile x tremor/ataxia syndrome 10.0
19 frontotemporal dementia 10.0
20 dementia 10.0
21 movement disease 10.0
22 primary cerebellar degeneration 9.8 ATXN3 CACNA1A
23 spinal and bulbar muscular atrophy, x-linked 1 9.6 ATXN3 ATXN7
24 friedreich ataxia 1 9.6 ATXN3 CACNA1A
25 nervous system disease 9.5 ATXN3 CACNA1A
26 spinocerebellar ataxia 18 9.5 ATXN3 ATXN7 CACNA1A
27 spinocerebellar ataxia 6 9.5 ATXN3 ATXN7 CACNA1A
28 spinocerebellar ataxia 2 9.5 ATXN3 ATXN7 CACNA1A
29 spinocerebellar ataxia 31 9.4 ATXN3 ATXN7 CACNA1A
30 cerebellar disease 9.4 ATXN3 ATXN7 CACNA1A
31 autosomal genetic disease 9.4 ATXN3 ATXN7 CACNA1A
32 spinocerebellar ataxia 1 9.2 ATN1 ATXN3 ATXN7 CACNA1A
33 machado-joseph disease 9.2 ATN1 ATXN3 ATXN7 CACNA1A
34 hereditary ataxia 9.0 ATN1 ATXN3 ATXN7 CACNA1A TBP
35 dentatorubral-pallidoluysian atrophy 8.7 ATN1 ATXN3 ATXN7 CACNA1A JPH3 TBP

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 17:



Diseases related to Spinocerebellar Ataxia 17

Symptoms & Phenotypes for Spinocerebellar Ataxia 17

Human phenotypes related to Spinocerebellar Ataxia 17:

60 33 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 gait disturbance 60 33 hallmark (90%) Very frequent (99-80%) HP:0001288
3 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
4 chorea 60 33 frequent (33%) Frequent (79-30%) HP:0002072
5 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
6 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
7 rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0002063
8 mental deterioration 60 33 frequent (33%) Frequent (79-30%) HP:0001268
9 blepharospasm 60 33 frequent (33%) Frequent (79-30%) HP:0000643
10 writer's cramp 60 33 frequent (33%) Frequent (79-30%) HP:0002356
11 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
12 atrophy/degeneration affecting the brainstem 60 33 frequent (33%) Frequent (79-30%) HP:0007366
13 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
14 neuronal loss in central nervous system 60 33 frequent (33%) Frequent (79-30%) HP:0002529
15 generalized cerebral atrophy/hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0007058
16 cerebellar purkinje layer atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012082
17 dystonia 60 33 Frequent (79-30%) HP:0001332
18 cerebellar atrophy 60 33 Frequent (79-30%) HP:0001272
19 depressivity 33 HP:0000716
20 seizures 33 HP:0001250
21 dysarthria 33 HP:0001260
22 dysphagia 33 HP:0002015
23 hallucinations 33 HP:0000738
24 myoclonus 33 HP:0001336
25 gait ataxia 33 HP:0002066
26 limb ataxia 33 HP:0002070
27 dysmetria 33 HP:0001310
28 intention tremor 33 HP:0002080
29 paranoia 33 HP:0011999
30 apraxia 33 HP:0002186
31 aggressive behavior 33 HP:0000718
32 confusion 33 HP:0001289
33 involuntary movements 60 Frequent (79-30%)
34 bradykinesia 33 HP:0002067
35 urinary incontinence 33 HP:0000020
36 gliosis 33 HP:0002171
37 broad-based gait 33 HP:0002136
38 mutism 33 HP:0002300
39 gaze-evoked nystagmus 33 HP:0000640
40 frontal lobe dementia 33 HP:0000727
41 lack of insight 33 HP:0000757
42 diffuse cerebral atrophy 33 HP:0002506
43 frontal release signs 33 HP:0000743
44 positive romberg sign 33 HP:0002403
45 impaired pursuit initiation and maintenance 33 HP:0007668

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
dysarthria
dysphagia
chorea
myoclonus
more
Head And Neck Eyes:
impaired pursuit initiation and maintenance
gaze-evoked nystagmus (33%)
increased error rates of antisaccades (50%)
increased error rates of memory-guided saccades (40%)

Neurologic Behavioral Psychiatric Manifestations:
hallucinations
paranoia
mutism
frontal lobe dementia
lack of insight
more
Genitourinary Bladder:
incontinence (in late stages)

Clinical features from OMIM:

607136

UMLS symptoms related to Spinocerebellar Ataxia 17:


seizures, myoclonus, gait ataxia, action tremor, bradykinesia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia 17:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3
2 growth/size/body region MP:0005378 9.63 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
3 mortality/aging MP:0010768 9.43 ATN1 ATXN7 CACNA1A HAP1 JPH3 TBP
4 nervous system MP:0003631 9.17 ATN1 ATXN3 ATXN7 CACNA1A HAP1 JPH3

Drugs & Therapeutics for Spinocerebellar Ataxia 17

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Spinocerebellar Ataxia 17

Genetic Tests for Spinocerebellar Ataxia 17

Genetic tests related to Spinocerebellar Ataxia 17:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 17 30 TBP

Anatomical Context for Spinocerebellar Ataxia 17

MalaCards organs/tissues related to Spinocerebellar Ataxia 17:

42
Eye, Spinal Cord, Cerebellum, Brain, Testes, Skin, Liver

Publications for Spinocerebellar Ataxia 17

Articles related to Spinocerebellar Ataxia 17:

(show top 50) (show all 70)
# Title Authors Year
1
Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17. ( 30617627 )
2019
2
Shaoyao Gancao Tang (SG-Tang), a formulated Chinese medicine, reduces aggregation and exerts neuroprotection in spinocerebellar ataxia type 17 (SCA17) cell and mouse models. ( 30760647 )
2019
3
Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. ( 29564144 )
2018
4
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17. ( 30532692 )
2018
5
Piperine ameliorates SCA17 neuropathology by reducing ER stress. ( 29378605 )
2018
6
Spinocerebellar Ataxia Type 17 (SCA17). ( 29427105 )
2018
7
The indole compound NC009-1 inhibits aggregation and promotes neurite outgrowth through enhancement of HSPB1 in SCA17 cells and ameliorates the behavioral deficits in SCA17 mice. ( 29936316 )
2018
8
Capturing schizophrenia-like prodromal symptoms in a spinocerebellar ataxia-17 transgenic rat. ( 27856682 )
2017
9
Synergistic Toxicity of Polyglutamine-Expanded TATA-Binding Protein in Glia and Neuronal Cells: Therapeutic Implications for Spinocerebellar Ataxia 17. ( 28821675 )
2017
10
Genetically modified rodent models of SCA17. ( 27859490 )
2017
11
Molecular mechanisms underlying Spinocerebellar Ataxia 17 (SCA17) pathogenesis. ( 28032013 )
2016
12
A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea. ( 26613966 )
2016
13
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. ( 26374734 )
2015
14
Predominant pathologic laughing and crying in a SCA17 patient. ( 25797299 )
2015
15
The Pathogenic Role of Low Range Repeats in SCA17. ( 26267067 )
2015
16
Large Polyglutamine Repeats Cause Muscle Degeneration in SCA17 Mice. ( 26387956 )
2015
17
Pathological repeat variation at the SCA17/TBP gene in south Indian patients. ( 26476771 )
2015
18
From mild ataxia to huntington disease phenocopy: the multiple faces of spinocerebellar ataxia 17. ( 25349749 )
2014
19
Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice. ( 24462098 )
2014
20
Deactivation of TBP contributes to SCA17 pathogenesis. ( 25104854 )
2014
21
Indole and synthetic derivative activate chaperone expression to reduce polyQ aggregation in SCA17 neuronal cell and slice culture models. ( 25342886 )
2014
22
Role of high mobility group box 1 (HMGB1) in SCA17 pathogenesis. ( 25549101 )
2014
23
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. ( 24418350 )
2014
24
Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings. ( 24339615 )
2013
25
From normal gait to loss of ambulation in 6 months: a novel presentation of SCA17. ( 23475385 )
2013
26
Investigating function and connectivity of morphometric findings--exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17). ( 22659444 )
2012
27
Regulation of BACE1 by miR-29a/b in a cellular model of Spinocerebellar Ataxia 17. ( 22664922 )
2012
28
Role of the CCAAT-binding protein NFY in SCA17 pathogenesis. ( 22530004 )
2012
29
Severe and rapidly progressing cognitive phenotype in a SCA17-family with only marginally expanded CAG/CAA repeats in the TATA-box binding protein gene: a case report. ( 22889412 )
2012
30
CAG repeats determine brain atrophy in spinocerebellar ataxia 17: a VBM study. ( 21311576 )
2011
31
Relative contribution of SCA2, SCA3 and SCA17 in Korean patients with parkinsonism and ataxia. ( 21334959 )
2011
32
Neuroprotective effects of granulocyte-colony stimulating factor in a novel transgenic mouse model of SCA17. ( 21554323 )
2011
33
A Drosophila model of the neurodegenerative disease SCA17 reveals a role of RBP-J/Su(H) in modulating the pathological outcome. ( 21653638 )
2011
34
Early-onset SCA17 with 43 TBP repeats: expanding the phenotype? ( 21710129 )
2011
35
Structural changes associated with progression of motor deficits in spinocerebellar ataxia 17. ( 20016963 )
2010
36
Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation. ( 19595623 )
2010
37
SCA17 repeat expansion: mildly expanded CAG/CAA repeat alleles in neurological disorders and the functional implications. ( 20004653 )
2010
38
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
39
Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4). ( 18418687 )
2008
40
Difficulty identifying spinocerebellar ataxia 17 from preceding psychiatric symptoms. ( 18950389 )
2008
41
A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI. ( 19075547 )
2008
42
The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment. ( 16793320 )
2007
43
Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. ( 17149738 )
2007
44
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17). ( 17846415 )
2007
45
Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. ( 17934876 )
2007
46
Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. ( 17101913 )
2006
47
Characterization of nigrostriatal dysfunction in spinocerebellar ataxia 17. ( 16532453 )
2006
48
Electrophysiologic characterization in spinocerebellar ataxia 17. ( 16567717 )
2006
49
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17). ( 16760196 )
2006
50
Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. ( 16223509 )
2005

Variations for Spinocerebellar Ataxia 17

ClinVar genetic disease variations for Spinocerebellar Ataxia 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBP NM_003194.4(TBP): c.216A> G (p.Gln72=) single nucleotide variant Likely benign rs55736770 GRCh37 Chromosome 6, 170871040: 170871040
2 TBP NM_003194.4(TBP): c.216A> G (p.Gln72=) single nucleotide variant Likely benign rs55736770 GRCh38 Chromosome 6, 170561952: 170561952
3 TBP NM_003194.4(TBP): c.216_218delACA (p.Gln95del) deletion Benign rs71815788 GRCh37 Chromosome 6, 170871040: 170871042
4 TBP NM_003194.4(TBP): c.216_218delACA (p.Gln95del) deletion Benign rs71815788 GRCh38 Chromosome 6, 170561952: 170561954
5 TBP NG_008165.1: g.12526_12528CAM[(> 46)] NT expansion Pathogenic,risk factor

Expression for Spinocerebellar Ataxia 17

Search GEO for disease gene expression data for Spinocerebellar Ataxia 17.

Pathways for Spinocerebellar Ataxia 17

GO Terms for Spinocerebellar Ataxia 17

Cellular components related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 8.8 ATN1 ATXN3 ATXN7

Biological processes related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule cytoskeleton organization GO:0000226 9.26 ATXN3 ATXN7
2 neuromuscular process controlling balance GO:0050885 9.16 CACNA1A JPH3
3 chemical synaptic transmission GO:0007268 9.13 ATXN3 CACNA1A HAP1
4 exploration behavior GO:0035640 8.62 ATXN3 JPH3

Molecular functions related to Spinocerebellar Ataxia 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thiol-dependent ubiquitinyl hydrolase activity GO:0036459 8.32 ATXN3

Sources for Spinocerebellar Ataxia 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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