Gene "HSPD1"
Found 1 record
Gene information
Gene symbol:
HSPD1
See related:
Ensembl: ENSG00000144381, Gene ID: 3329
Additive variants :
Detected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Variant 1:
    HSPD1:rs41265953
    Gene:
    HSPD1
    Genomic location:
    dbSNP ID:
    rs41265953
    Target disease:
    Hereditary spastic paraplegia(DOID_2476)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    Pedigree analysis 
    Effect:
    PLN may act as a genetic modifier of hereditary spastic paraparesis
    Reference:
    PMID18458233
    Title:
    HSP60 is a rare cause of hereditary spastic paraparesis, but may act as a genetic modifier
    Species studied:
    Human
    Abstract:
    No data