Gene "TIMP2"
Found 1 record
Gene information
Gene symbol:
TIMP2
See related:
Ensembl: ENSG00000035862, Gene ID: 7077
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Variant 1:
    TIMP2:c.-719G>C
    Gene:
    TIMP2
    Genomic location:
    chr17:76921889
    dbSNP ID:
    rs8179090
    Target disease:
    Scoliosis(DOID_0060249)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P<0.05 
    Effect:
    The TIMP-2 gene is a disease-modifier gene of thoracic AIS
    Reference:
    PMID21228746
    Title:
    A promoter polymorphism of tissue inhibitor of metalloproteinase-2 gene is associated with severity of thoracic adolescent idiopathic scoliosis.
    Species studied:
    Human
    Abstract:
    A genetic association study of the tissue inhibitor of metalloproteinase-2 (TIMP-2) gene with adolescent idiopathic scoliosis (AIS) in a Chinese population.