Gene "PPP2R1A"
Found 1 record
Gene information
Gene symbol:
PPP2R1A
See related:
Ensembl: ENSG00000105568, Gene ID: 5518
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Altered phenotype(1)  
Detail：
  • Variant 1:
    PPP2R1A:variant
    Gene:
    PPP2R1A
    Genomic location:
    dbSNP ID:
    Target disease:
    Cystic fibrosis(DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered phenotype 
    Evidence:
    From review article 
    Effect:
    Lung disease
    Reference:
    PMID25053892
    Title:
    Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.
    Species studied:
    Human
    Abstract:
    The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This review focuses on the role of modifier genes using the example of cystic fibrosis, the most common lethal autosomal recessive disorder in the white population, and discusses the advantages and limitations of candidate gene approaches versus genome-wide association studies. Moreover, the implications of modifier gene research for other monogenic disorders, as well as its significance for diagnostic, prognostic, and therapeutic approaches are summarized. Increasing insight into modifying mechanisms opens up new perspectives, dispelling the idea of genetic disorders being caused by one single gene.