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:
Gene:
Variant:
Reference:
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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