Gene "EPHA4"
Found 1 record
Gene information
Gene symbol:
EPHA4
See related:
Ensembl: ENSG00000116106, Gene ID: 2043
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    EPHA4:c.824-29729G>C
    Gene:
    EPHA4
    Genomic location:
    chr2:222395621
    dbSNP ID:
    rs75843691
    Target disease:
    Type 2 Diabetes Mellitus(DOID_9352)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=8.3×10, below the bonferroni-corrected critical p value 
    Effect:
    EPHA4 appears to be a sex-specific hypertension risk gene in type 2 diabetic patients.
    Reference:
    PMID30817459
    Title:
    EPHA4 regulates vascular smooth muscle cell contractility and is a sex-specific hypertension risk gene in individuals with type 2 diabetes.
    Species studied:
    Human
    Abstract:
    We investigated the association of genetic variants of EPHA4, a receptor tyrosine kinase, with hypertension, and its role in vascular smooth muscle cell (VSMC) contractility.