Disorder "Spinocerebellar ataxia type 1"
Found 3 records
Disorder information
Disorder name:
Spinocerebellar ataxia type 1
Disoder ID:
OMIM entry:
Definition:
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
1
Effect type:
Expressivity(3)
Modifier effect:
Altered onset time(3)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TBP | TBP | Expressivity | Altered onset time | P<0.001 | The (CAG)n repeat length correlates with age at onset of spinocerebellar ataxia type 1.more | more |
| HTT | HTT | Expressivity | Altered onset time | P<0.001 | The (CAG)n repeat length correlates with age at onset of spinocerebellar ataxia type 1.more | more |
| ATN1 | ATN1 | Expressivity | Altered onset time | P<0.001 | The (CAG)n repeat length correlates with age at onset of spinocerebellar ataxia type 1.more | more |
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