Gene "ALPL"
Found 1 record
Gene information
Gene symbol:
ALPL
See related:
Ensembl: ENSG00000162551, Gene ID: 249
Additive variants :
Detected
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:
    ALPL:c.1190-65C>A
    Gene:
    ALPL
    Genomic location:
    chr1:21902950
    dbSNP ID:
    rs1780329
    Target disease:
    Pseudoxanthoma Elasticum(DOID_2738)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.01 
    Effect:
    The SNV c.1190-65C>A (rs1780329) in the ALP gene was significantly more frequent in PXE patients.
    Reference:
    PMID25025693
    Title:
    Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.
    Species studied:
    Human
    Abstract:
    Pseudoxanthoma elasticum (PXE) is a rare hereditary disorder characterized by progressive calcification and fragmentation of elastic fibers. Because of the great clinical variability between PXE patients the involvement of modifier genes was recently suggested. Therefore, we investigated the association of single nucleotide variants (SNVs) in selected candidate genes known to regulate cellular pyrophosphate metabolism.