Variant "CLN8:variant"
Search result: 1 record
Variant information
Gene:
CLN8 
Variant:
CLN8:variant 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Gaucher's Disease (DOID_1926)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    From review article 
    Effect:
    Overexpression of CLN8 may have a positive/protective modifying effect
    Reference:
    PMID23108221
    Title:
    Haematological manifestations and complications of Gaucher disease.
    Species studied:
    Human
    Abstract:
    Gaucher disease is a rare inherited disorder of sphingolipid metabolism resulting in the accumulation of glucocerebroside substrate in cells throughout the reticuloendothelial system and clinical manifestations including cytopenias, organomegaly and bone disease. The clinical presentation is very variable and little has been understood of the determinants of heterogeneity or biological features that influence disease severity.