MCID: SPN170

Spinocerebellar Ataxia Type15 malady

Genetic diseases (common) category

Summaries for Spinocerebellar Ataxia Type15

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34MalaCards
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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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63UMLS, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

spinocerebellar ataxia type15 21
spinocerebellar ataxia 15 63


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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Spinocerebellar Ataxia Type15

Drug clinical trials:

Search ClinicalTrials for Spinocerebellar Ataxia Type15

Search NIH Clinical Center for Spinocerebellar Ataxia Type15

Search CenterWatch for Spinocerebellar Ataxia Type15

Genetic Tests for Spinocerebellar Ataxia Type15

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21GeneTests
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Genetic tests related to Spinocerebellar Ataxia Type15:

id Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type1521 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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet