Variant "SMAD7:variant"
Search result: 1 record
Variant information
Gene:
SMAD7 
Variant:
SMAD7:variant 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to exercise and injury(1)  
Detail：
  • Target disease:
    Duchenne Muscular Dystrophy (DOID_11723)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to exercise and injury 
    Evidence:
    From review article 
    Effect:
    TGFβ1 is elevated in response to exercise and injury
    Reference:
    PMID26263473
    Title:
    Modifier genes and their effect on Duchenne muscular dystrophy.
    Species studied:
    Human
    Abstract:
    Recently, genetic pathways that modify the clinical severity of Duchenne muscular dystrophy (DMD) have been identified. The pathways uncovered as modifiers are useful to predict prognosis and also elucidate molecular signatures that can be manipulated therapeutically.