Gene "MET"
Found 2 records
Gene information
Gene symbol:
MET
See related:
Ensembl: ENSG00000105976, Gene ID: 4233
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Variant 1:
    MET:c.1393-910C>T
    Gene:
    MET
    Genomic location:
    chr7:116379094
    dbSNP ID:
    rs38859
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Bayesian approach 
    Effect:
    31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke
    Reference:
    PMID15778708
    Title:
    Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the beta-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6-8% of individuals with SCA. Modifier genes might interact to determine the susceptibility to stroke, but such genes have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate genes in 1,398 individuals with SCA. We found that 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke. This network of interactions includes three genes in the TGF-beta pathway and SELP, which is associated with stroke in the general population. We validated this model in a different population by predicting the occurrence of stroke in 114 individuals with 98.2% accuracy.
  • Variant 2:
    MET:c.-14-1476G>A
    Gene:
    MET
    Genomic location:
    chr7:116337649
    dbSNP ID:
    rs38850
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Bayesian approach 
    Effect:
    31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke
    Reference:
    PMID15778708
    Title:
    Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia.
    Species studied:
    Human
    Abstract:
    Sickle cell anemia (SCA) is a paradigmatic single gene disorder caused by homozygosity with respect to a unique mutation at the beta-globin locus. SCA is phenotypically complex, with different clinical courses ranging from early childhood mortality to a virtually unrecognized condition. Overt stroke is a severe complication affecting 6-8% of individuals with SCA. Modifier genes might interact to determine the susceptibility to stroke, but such genes have not yet been identified. Using Bayesian networks, we analyzed 108 SNPs in 39 candidate genes in 1,398 individuals with SCA. We found that 31 SNPs in 12 genes interact with fetal hemoglobin to modulate the risk of stroke. This network of interactions includes three genes in the TGF-beta pathway and SELP, which is associated with stroke in the general population. We validated this model in a different population by predicting the occurrence of stroke in 114 individuals with 98.2% accuracy.