Disorder "Dystonia"
Found 1 record
Disorder information
Disorder name:
Dystonia
Disoder ID:
Definition:
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
TOR1A | TOR1A:p.Asp216His | Penetrance | Altered incidence | Assessment of genotype–phenotype associations | A highly protective effect of the H allele in trans with the GAG deletionmore | more |
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