MCID: SPN170

Spinocerebellar Ataxia Type15 malady

Genetic diseases (common) category
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Summaries for Spinocerebellar Ataxia Type15

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33MalaCards
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MalaCards: Spinocerebellar Ataxia Type15, is also known as spinocerebellar ataxia 15 An important gene associated with Spinocerebellar Ataxia Type15 is ITPR1 (inositol 1,4,5-trisphosphate receptor, type 1).

Aliases & Classifications for Spinocerebellar Ataxia Type15

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62UMLS, 20GeneTests
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

spinocerebellar ataxia type15 20
spinocerebellar ataxia 15 62


Related Diseases for Spinocerebellar Ataxia Type15

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Symptoms for Spinocerebellar Ataxia Type15

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Drugs & Therapeutics for Spinocerebellar Ataxia Type15

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type15

Search NIH Clinical Center for Spinocerebellar Ataxia Type15

Genetic Tests for Spinocerebellar Ataxia Type15

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20GeneTests
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Genetic tests related to Spinocerebellar Ataxia Type15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type1520 ITPR1

Anatomical Context for Spinocerebellar Ataxia Type15

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Animal Models for Spinocerebellar Ataxia Type15 or affiliated genes

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Publications for Spinocerebellar Ataxia Type15

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Variations for Spinocerebellar Ataxia Type15

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Spinocerebellar Ataxia Type15:

1
id Gene Name Type Significance SNP ID Assembly Location
1ITPR1NC_000003.12: g.(4480596_4480597)_(4793914_4793915)deldeletionPathogenic/card/spinocerebellar_ataxia_type15GRCh38Chr 3, 4480597: 4793914
2ITPR1NM_001168272.1(ITPR1): c.3203C> T (p.Pro1068Leu)single nucleotide variantPathogenicrs121912425GRCh37Chr 3, 4725156: 4725156

Expression for genes affiliated with Spinocerebellar Ataxia Type15

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spinocerebellar Ataxia Type15

Search GEO for disease gene expression data for Spinocerebellar Ataxia Type15.

Pathways for genes affiliated with Spinocerebellar Ataxia Type15

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Compounds for genes affiliated with Spinocerebellar Ataxia Type15

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GO Terms for genes affiliated with Spinocerebellar Ataxia Type15

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Products for genes affiliated with Spinocerebellar Ataxia Type15

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Spinocerebellar Ataxia Type15

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet