MCID: SPN049

Spinocerebellar Ataxia malady

Summaries for Spinocerebellar Ataxia

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6Disease Ontology, 44Wikipedia, 22MalaCards
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Disease Ontology: A spinocerebellar degeneration that has material basis in expanded cag triplet repeats resulting in spinal cord and cerebellum degeneration.6

MalaCards: Spinocerebellar Ataxia, also known as spinocerebellar ataxias, is related to spinocerebellar ataxia type 6 and spinocerebellar ataxia type 3. An important gene associated with Spinocerebellar Ataxia is ATXN1 (ataxin 1), and among its related pathways are Proteolysis_Putative ubiquitin pathway and Regulation of degradation of deltaF508 CFTR in CF. The compounds n acetylcysteine and alpha tocopherol have been mentioned in the context of this disorder. Affiliated tissues include brain, cerebellum and spinal cord, and related mouse phenotypes are muscle and cellular.

Wikipedia: Spinocerebellar ataxia (SCA) is a progressive, degenerative,genetic disease with multiple types, each of...44 more...

Aliases & Descriptions for Spinocerebellar Ataxia

Sources:
6Disease Ontology, 7diseasecard, 44Wikipedia, 30NIH Rare Diseases, 8DISEASES, 17Genetics Home Reference, 32Novoseek , 43UMLS, 33OMIM, 24MeSH, 27NCIt, 40SNOMED-CT
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Aliases & Descriptions:

spinocerebellar ataxia 6 7 44 30 8
spinocerebellar ataxias 17 32
spinocerebellar ataxia (disorder) 6
ataxia, spinocerebellar 43

Related Diseases for Spinocerebellar Ataxia

Sources:
13GeneCards, 14GeneDecks
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Disease types for spinocerebellar ataxia family:

spinocerebellar ataxia type 3 spinocerebellar ataxia type 6
spinocerebellar ataxia type 7 spinocerebellar ataxia type 8
spinocerebellar ataxia type 10 spinocerebellar ataxia type 11
spinocerebellar ataxia type 12 spinocerebellar ataxia type 13
spinocerebellar ataxia type 14 spinocerebellar ataxia type 15
spinocerebellar ataxia type 17 spinocerebellar ataxia type 20
spinocerebellar ataxia type 28 spinocerebellar ataxia 18
spinocerebellar ataxia 19 spinocerebellar ataxia 21
spinocerebellar ataxia 23 spinocerebellar ataxia 25
spinocerebellar ataxia 26 spinocerebellar ataxia 27
spinocerebellar ataxia 29 spinocerebellar ataxia 30
spinocerebellar ataxia 31 spinocerebellar ataxia 34
spinocerebellar ataxia 4 spinocerebellar ataxia 5
spinocerebellar ataxia 9

Diseases related to spinocerebellar ataxia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 260)
idRelated DiseaseScoreTop Affiliating Genes
1spinocerebellar ataxia type 638.0BLZF1, KCNA1, HSF1, HSPA1A, CACNA1A
2spinocerebellar ataxia type 337.2USP15, CHERP, UBC, ATXN3, ATXN1, FOXO4
3spinocerebellar ataxia type 737.1CHERP, ATXN3, ATXN2, ATXN1, ATN1, ATXN7
4infantile onset spinocerebellar ataxia36.5CHERP, ATXN8, ATXN8OS, TTPA
5olivopontocerebellar atrophy36.3ATXN2, GLUD1, SNCA
6spinocerebellar ataxia type 1436.1SGCE, PRKCG, PRKACG
7spinocerebellar ataxia type 1736.0KHSRP, PARK7, HSPA5, HSPA8, TBP, TAF1
8spinocerebellar ataxia type 1235.3ATXN3, ATXN2, ATXN8OS, ATXN1, ATN1, ATXN7
9cerebellar ataxia34.3ZNF592, SETX, CLA3, BEAN1, KCNA1, KCNC3
10x-linked sideroblastic anemia with ataxia32.4FXN, ALAS2, ABCB7
11axonal neuropathy32.3SETX, LIG3, SACS, ATCAY, APTX, HSPB1
12parkinson's disease32.3PARK7, MAPT, TBP, SNCA
13friedreich ataxia32.2SETX, SACS, ATXN3, ATXN2, ATXN8OS, ATCAY
14spinocerebellar degeneration31.9CHERP, ATXN3, ATXN2, ATXN1, ANP32A, CACNA1A
15nystagmus31.8KCNA1, SACS, ATCAY, FXN, ANO10, CACNA1A
16dentatorubral-pallidoluysian atrophy31.4ATXN2, ATN1, HTT, CACNA1A, RPS27A, PVALB
17early-onset ataxia with oculomotor apraxia and hypoalbuminemia31.3APTX, HTT, SLC6A3
18neuropathy31.3SETX, LIG3, KCNA1, SCA18, SCA25, SCAR3
19huntington's disease31.0SERPINA3, CHERP, ATXN3, ATXN1, ATN1, ATXN7
20ophthalmoplegia30.6ATXN3, ATXN2, ATXN1, ATXN7, PLEKHG4, C10orf2
21huntington disease-like30.2ATN1, HTT, TBP, PRNP
22restless legs syndrome30.1ATXN3, ATXN2, ATXN1, ATXN7, CACNA1A, DRD2
23peripheral neuropathy30.0SETX, SCAR3, MT-ND1, SACS, ATXN3, ATXN2
24myotonic dystrophy type 129.9KCNN3, ATXN1, AR, MAPT, HSPA5
25sideroblastic anemia29.8FXN, ALAS2, ABCB7, SOD2
26neurodegeneration29.7SERPINA3, BLZF1, KHSRP, PARK7, CHERP, YWHAE
27tremor29.6SGCE, SETX, PARK7, ATXN2, ATCAY, FRAXA
28optic atrophy29.6ZNF592, SCAR3, MT-ND1, ATXN3, ATXN2, ATXN1
29myotonic dystrophy29.3KCNN3, ATXN10, ATXN3, ATXN1, FMR1, AR
30multiple system atrophy29.0SERPINA3, PARK7, ATXN3, ATXN2, ATXN8OS, ATXN1
31muscular atrophy28.9BLZF1, KHSRP, SCA18, CHERP, SACS, ATXN3
32hypogonadism28.7LEPR, ATXN2, FXN, AR, CALCA, SHBG
33myoclonus28.5SGCE, SCASI, UBC, MT-TK, MT-CO2, ATXN2
34dementia28.4SERPINA3, PARK7, SCAX4, MT-ATP6, MT-ND1, S100G
35ataxia27.8ZNF592, KLHL1, SGCE, CNTN4, RBFOX1, SETX
36anemia27.0RBM17, BLZF1, CHERP, UBC, MT-ATP6, ATXN10
37retinitis26.5USH2A, BLZF1, CHERP, YWHAE, UBC, MT-ATP6
38schizophrenia25.7SGCE, CNTN4, SERPINA3, RAI1, PARK7, KCNN3
39obesity25.6RBFOX1, RAI1, LEPR, MT-ATP6, MT-ND1, ATXN3
40multiple sclerosis24.2LIG3, PARK7, LEPR, YWHAE, MT-TK, MT-TL1
41alzheimer's disease23.3CNTN4, RBM17, SERPINA3, BLZF1, KHSRP, PARK7
42neuronitis23.1KLHL1, CNTN4, RBFOX1, SETX, SERPINA3, RAI1
43hereditary ataxia14.3ATXN3, ATXN2, ATXN1, ATN1, ATXN7, FXN
44cerebellar degeneration14.1BLZF1, ATXN2, CACNA1A, GLUD1, SPG7, PRNP
45neuronal intranuclear inclusion disease14.0ATXN3, ATXN1, MAPT, SNCA, RPS27A, ABT1
46apraxia14.0SETX, FXN, APTX, MAPT, TTPA
47ataxia with isolated vitamin e deficiency13.9SETX, FXN, APTX, TTPA
48transient cerebral ischemia13.9ITPR1, MAPT, HSPA5, HSPA1A, HSPA4, RPS27A
49spinal-bulbar muscular atrophy13.9CHERP, SACS, ATXN3, ATXN1, AR, HTT
50memory impairment13.9FMR1, MAPT, SNCA, PDYN, PRNP, SLC6A3

Graphical network of the top 20 diseases related to spinocerebellar ataxia:



Graphical network of diseases related to spinocerebellar ataxia

Clinical Features for Spinocerebellar Ataxia

Drugs & Therapeutics for Spinocerebellar Ataxia

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spinocerebellar Ataxia

Anatomical Context for Spinocerebellar Ataxia

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22MalaCards
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MalaCards organs/tissues related to spinocerebellar ataxia:

22
Brain, Cerebellum, Spinal cord, T cells, B cells

Phenotypes for genes affiliated with Spinocerebellar Ataxia

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25MGI
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MGI Mouse Phenotypes related to spinocerebellar ataxia:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1muscle phenotypeMP:00053698.5TK2, TTPA, AGTPBP1, PDLIM3, CRAT, DNM1L
2cellular phenotypeMP:00053847.7TK2, ABCB7, PDYN, CRAT, SNCA, DAGLA
3reproductive system phenotypeMP:00053897.6DRD2, AKT1, CACNA1A, HSPA4, HSPA1A, HSPA5
4nervous system phenotypeMP:00036317.2DNM1L, DLST, DRD2, AKT1, GLUL, CACNA1A
5growth/size phenotypeMP:00053786.8GAPDH, AFG3L2, AFF2, NEDD4, SLC6A3, PDYN
6homeostasis/metabolism phenotypeMP:00053766.5ABCB7, PDYN, PDLIM3, CRAT, SNCA, DAGLA
7mortality/agingMP:00107686.1DLD, SUMF1, SNCA, PDLIM3, ABCB7, TBP
8behavior/neurological phenotypeMP:00053866.1ATXN7, PARK7, LIG3, RAI1, RBFOX1, SGCE

Publications for genes affiliated with Spinocerebellar Ataxia

Sources:
35PubMed
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Articles related to spinocerebellar ataxia:

(show top 50)    (show all 355)
idTitleAuthorsYearAffiliating Genes
1Spinocerebellar ataxia type 6. (21827907)Solodkin A.... Gomez C.M.2012CACNA1A
2Spinocerebellar ataxia type 15: diagnostic assessment , frequency, and phenotypic features. (21367767)Synofzik M.... Bauer P.2011ITPR1
3The occurrence of spinocerebellar ataxias caused by d ynamic mutations in Polish patients. (20625959)SuA8ek-Piatkowska A.... Zaremba J.2010ATXN3
4Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)Foncke E.M.... Tijssen M.A.2010SGCE
5High frequency of Machado-Joseph disease identified i n southeastern Chinese kindreds with spinocerebellar ataxia. (20334689)Gan S.R.... Wu Z.Y.2010ATXN3
6Spinocerebellar ataxia type 31 is associated with 'inserted' penta- nucleotide repeats containing (TGGAA)n. (19878914)Sato N.... Mizusawa H.2009NEDD4, TK2, BEAN1
7The p62 antibody reveals various cytoplasmic protein aggregates in spinocerebellar ataxia type 6. (19788049)Seidel K.... den Dunnen W.F.2009CACNA1A, BLZF1
8Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias. (19066432)Safaei S.... Shariati P.2009MT-CO2, MT-ND1, MT-ATP6
9Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. (18499672)Adachi N.... Saito N.2008PRKCG
10Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy. (18297329)Abdel-Aleem A.... Zaki M.S.2008ATXN2
11Spinocerebellar ataxia 2 (SCA2). (18418684)Lastres-Becker I.... Auburger G.2008ATXN2, CHERP
12Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6. (19145126)Colen C.B.... Van Stavern G.P.2008CACNA1A
13The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias. (18047739)Davies J.E.... Rubinsztein D.C.2007RPS27A
14The clinical features and gene mutation analysis in a pedigree of spinocerebellar ataxia type 7 (17650485)Yin X.Z.... Zhang H.2007CACNA1A, ATXN3, ATXN1
15The P/Q-type voltage-dependent calcium channel: a therapeutic target in spinocerebellar ataxia type 6. (17489948)Gazulla J.... TintorAc M.2007CACNA1A
16Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene. (17149738)Nanda A.... Metzer W.S.2007TBP
17Molecular pathogenesis of spinocerebellar ataxia type 6. (17395139)Kordasiewicz H.B.... Gomez C.M.2007CACNA1A
18Spinocerebellar ataxia type 20 is genetically distinct from spinocerebellar ataxia type 5. (17159129)Lorenzo D.N.... Knight M.A.2006SCA20
19Spinocerebellar ataxia type 3 (SCA3): thalamic neurodegeneration occurs independently from thalamic ataxin-3 immunopositive neuronal intranuclear inclusions. (16911479)Rub U.... Deller T.2006ATXN3
20Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. (16763984)Hiramoto K.... Sakai N.2006PRKCG
21CAG repeats containing CAA interruptions form branched hairpin structures in spinocerebellar ataxia type 2 transcripts. (15533937)Sobczak K.... Krzyzosiak W.J.2005ATXN2
22Spinocerebellar ataxia type 17 in the Yugoslav population. (14763955)Alendar A.... Romac S.2004TBP
23Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7. (15316811)Bauer P.... Goetz P.2004ATXN7
24Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (15148151)Brusco A.... Taroni F.2004PRKCG, TBP, ITPR1
25Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3. (14679302)Griffin J.L.... Pook M.A.2004ATXN3
26Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. (14571264)Michalik A.... Van Broeckhoven C.2004ATXN7
27Spinocerebellar ataxia 7 (SCA7). (14526176)Lebre A.S.... Brice A.2003ATXN7
28A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. (12764052)Chung M.Y.... Soong B.W.2003SCA22
29A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. (12164726)Brkanac Z.... Bird T.D.2002PRKCG
30Pontine atrophy in spinocerebellar ataxia type 6. (10601803)Sugawara M.... Masamune O.2000CACNA1A
31Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. (11175279)Jonasson J.... Holmberg M.2000ATXN7
32Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. (10090679)Estrada R.... Auburger G.1999ATXN2
33Nuclear inclusions in spinocerebellar ataxia type 1. (9928833)Duyckaerts C.... Brice A.1999ATXN1
34An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) (10192387)Koob M.D.... Ranum L.P.1999ATXN8OS
35Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6) (9847664)Yabe I.... Tashiro K.1998CACNA1A
36Spinocerebellar ataxia type 6: MRI of three Japanese patients. (9592791)Satoh J.I.... Kuroda Y.1998CACNA1A
37Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family. (10374379)Cai T.... Lopa M.1998ATXN1
38Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. (9403487)Gomez C.M.... Anderson J.H.1997CACNA1A
39Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. (9429138)Leggo J.... Rubinsztein D.C.1997CACNA1A, ATXN2
40An apparently sporadic case with spinocerebellar ataxia type 1 (SCA1) (9404150)Futamura N.... Takayanagi T.1997ATXN1
41Peptidergic sweating in multiple system atrophy and hereditary spinocerebellar ataxia with special reference to calcitonin gene-rel ated peptide (8741344)Kumazawa K.... Mitsuma T.1996CALCA
42Unstable triplet repeat and phenotypic variability of spinocerebellar ataxia type 1. (8619528)Goldfarb L.G.... Gajdusek D.C.1996ATXN1
43A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. (8634720)Quan F.... Popovich B.W.1995ATXN1
44Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. (7655453)Schols L.... Riess O.1995ATXN3
45Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. (8037204)Ranum L.P.... Goldfarb L.1994ATXN1
46Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian founder population: assignment to the SCA1 locus. (7925830)Lunkes A.... Auburger G.1994ATXN1
47Spinocerebellar Ataxia Type 14 (20301573)Chen D.H.... Raskind W.H.1993PRKCG
48Spinocerebellar Ataxia Type 8 (20301445)Ikeda Y.... Ranum L.P.W.1993ATXN8OS, ATXN8
49Infantile-Onset Spinocerebellar Ataxia (20301746)Nikali K.... LAPnnqvist T.1993C10orf2
50Spinocerebellar Ataxia Type 6 (20301319)Gomez C.M.1993CACNA1A

Expression for genes affiliated with Spinocerebellar Ataxia

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia

Pathways for genes affiliated with Spinocerebellar Ataxia

Sources:
41Thomson Reuters, 10EMD Millipore, 36QIAGEN, 3Cell Signaling Technology, 20KEGG
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Compounds for genes affiliated with Spinocerebellar Ataxia

Sources:
32Novoseek , 42Tocris Bioscience, 9DrugBank, 18HMDB
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Compounds related to spinocerebellar ataxia according to GeneDecks:

(show top 50)    (show all 119)
idCompoundScoreTop Affiliating Genes
1n acetylcysteine32 10.6SNCA, HSF1, RPS27A, CRAT, MAPT, AR
2alpha tocopherol32 10.5HSPA8, TBP, SNCA, HSPA4, HSPA1A, FXN
3mg 13232 42 11.4HSF1, MAPT, AR, HSPA1A, RPS27A, SNCA
4methamphetamine32 9 9 12.1PDYN, RPS27A, GAPDH, SLC6A3, SOD2, DRD2
5lysine32 10.1PARK7, F13A1, CACNA1A, SPG7, PRKACG, PRNP
6potassium32 9 18 9 13.1ABCB7, KCNA1, HSPA1A, HSPA4, BLZF1, AFP
7silver32 10.0AFP, RPS27A, SNCA, PVALB, GLO1, HSPA8
86-hydroxydopamine32 10.0SLC6A3, GAPDH, DRD2, PARK7, SNCA, RPS27A
9glycerol32 9 18 9 13.0GLUD1, HSPA4, HSPA8, GLUL, TBP, RPS27A
10sodium dodecylsulfate32 9.9MAPT, AR, GLUD1, TBP, RPS27A, TTR
11citrate32 9.9MT-CO2, SOD2, OGDH, CRAT, PPBP, GLUD1
12butyrate32 9.9HTT, ALAS2, MAPT, FMR1, HSF1, HSPB1
13glyceraldehyde 3-phosphate32 9.8TBP, GAPDH, GLUD1, GLS, GLO1, HSPA8
14cysteine32 9.8HTT, ATN1, HSPA5, HSPA8, GLO1, GLS
15rotenone32 9.7MT-ND1, HSPA4, HSPA8, SNCA, RPS27A, DNM1L
16urea32 9 18 9 12.7AFP, TTR, SERPINA3, MAPT, F13A1, HSPA1A
17glycogen32 18 10.6HSPA5, HTT, MAPT, FOXO4, LEPR, HSF1
18superoxide32 18 10.6HTT, LEPR, PARK7, BLZF1, SERPINA3, PRNP
19polyacrylamide32 9.6GAPDH, BLZF1, HSPB1, NEFL, SOD2, PRNP
20leucine32 9.5TBP, SERPINA3, HSF1, HSPA5, HSPB1, ANP32A
21zinc32 18 10.5GLO1, HSPA8, HSPA1A, HSPA5, HSF1, ALAS2
22hydrogen32 18 10.4MT-CO2, GLS, RPS27A, GLUD1, MT-ATP6, GLO1
23gaba32 42 10.4PDYN, DRD2, CRAT, RPS27A, PVALB, FMR1
24acetylcholine32 9 18 9 12.4BLZF1, SNCA, SOD2, MAPT, SERPINA3, DRD2
25methionine32 9.3PVALB, PRNP, MAPT, MT-ND1, PARK7, SERPINA3
26nmda32 42 10.3HSPA4, AKT1, DRD2, RPS27A, GAPDH, PDYN
27actinomycin d32 9.2RPS27A, CRAT, AKT1, GLUL, GLS, HSPA4
28testosterone32 9 18 9 12.1RPS27A, LEPR, HSPA8, CALCA, AKT1, CRAT
29paraffin32 9.1RPS27A, AFP, AR, MAPT, F13A1, HSPB1
30creatinine32 9.1SHBG, ABCB7, TTR, OGDH, SOD2, NEFL
31threonine32 9.1CACNA1A, GLUD1, TTR, PRKCG, PRKACG, AFP
32epinephrine32 9 18 9 12.0AR, SOD2, GAPDH, CALCA, PDYN, TTR
33proline32 9.0HSPA5, GLUD1, GLUL, TBP, HSPA8, HSF1
34adenylate32 9.0POLG, GAPDH, GLO1, HSPA4, CALCA, BLZF1
35arginine32 8.9GLUL, PRKACG, SERPINA3, BLZF1, SOD2, PRNP
36h2o232 8.8HSPA8, HSPA4, HSPA1A, HSPB1, HSPA5, HSF1
37aspartate32 8.7AR, MAPT, KHSRP, TTR, TOP1, PVALB
38iron32 18 9.6PVALB, PRNP, SOD2, AFP, GLO1, TTR
39pyruvate32 8.6HSPA5, GLS, BLZF1, MT-ND3, MT-ND1, GLUD1
40calcium32 9 18 9 11.6AFP, SUMF1, GLUL, GLS, CACNA1A, HSPA8
41valine32 8.5TTR, HSPA5, RPS27A, DLD, SERPINA3, AR
42dopamine32 9 18 9 11.5HSPA5, HSPA4, HSPA8, CALCA, HTT, MAPT
43alanine32 8.5BLZF1, TTR, POLG, NEDD4, AFP, ABT1
44oxygen32 18 9.4HSF1, HSPA5, HSPB1, HSPA1A, HSPA4, HSPA8
45glutamine32 8.3ATN1, ATXN7, AR, GRIK2, ANP32A, MAPT
46atp32 8.2PPBP, ITPR1, FXN, MT-ND1, MT-ATP6, MT-CO2
47glucose32 8.0PDYN, SNCA, GLUD1, ABCB7, GLUL, AKT1
48glutamate32 7.9BLZF1, LEPR, S100G, ITPR1, FMR1, AR
49lactate32 7.8MAPT, MT-ND1, MT-CO2, BLZF1, GAPDH, AFP
50serine32 7.4PPBP, SNCA, TBP, DLD, AKT1, GLUL

GO Terms for genes affiliated with Spinocerebellar Ataxia

Sources:
12Gene Ontology
See all sources

Cellular components related to spinocerebellar ataxia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.9OGDH, TK2, DLST, DLD, GLUD1, GLS
2axonGO:0304249.4CNTN4, NEFL, SLC6A3, PVALB, SNCA, DRD2
3dendriteGO:0304259.4PRKCG, DRD2, CACNA1A, HTT, AR, ATXN1L
4mitochondrionGO:0057398.9ABCB7, CRAT, SNCA, PPP2R2B, AGTPBP1, OGDH
5cytoplasmGO:0057377.3TBP, TBPL2, DLST, SNCA, AKT1, GLUL

Biological processes related to spinocerebellar ataxia according to GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821911.0AFG3L2, DAGLA, SPTBN2, SPG7, NOP56, PDYN
2fibroblast growth factor receptor signaling pathwayGO:00854310.3PRKACG, PRKCG, RPS27A, AKT1, FGF14, FOXO4
3negative regulation of neuron apoptotic processGO:04352410.0SOD2, PRKCG, SNCA, CACNA1A, HTT, GRIK2
4anti-apoptosisGO:00691610.0PRNP, RPS27A, SNCA, AKT1, GLO1, HSPB1
5adult walking behaviorGO:0076289.8AGTPBP1, DRD2, CACNA1A, MAPT, FXN, KLHL1
6synaptic transmissionGO:0072689.8PDYN, ACTN2, PRKCG, SLC6A3, SLC1A6, NEFL
7platelet activationGO:0301689.8ACTN2, PPBP, DAGLA, AKT1, HSPA5, F13A1
8RNA metabolic processGO:0160709.8PSMC1, RPS27A, AKT1, HSPA8, HSPB1, ANP32A

Molecular functions related to spinocerebellar ataxia according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055156.2GAPDH, ACTN2, ABT1, NOP56, SNCA, PPP2R2B

Sources for Spinocerebellar Ataxia

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS