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Diseases

Spinocerebellar Ataxia Type 5

spinocerebellar ataxia type 5

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name
Spinocerebellar Ataxia Type 5
Standard Disease Name
spinocerebellar ataxia type 5
MeSH Tree
No data
ICD-10
No data

Identifiers

DO ID
No data
MeSH ID
No data
OMIM ID
No data
UMLS ID
C3813553
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:Human NOTCH3 wild-type allele is located within 19p13.2-p13.1 and is approximately 41 kb in length. This allele, which encodes neurogenic locus notch homolog protein 3, is involved in both cell-cell signaling and cell differentiation. Mutation of the gene is associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
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