Disorder "Acute Myeloid Leukemia"
Found 13 records
Disorder information
Disorder name:
Acute Myeloid Leukemia
Disoder ID:
OMIM entry:
Synonyms:
AML - acute Myeloid Leukemia,Leukemia, Myelocytic, acute,acute myeloblastic leukemia,acute myelogenous leukemia
Definition:
A form of leukemia characterized by overproduction of an early myeloid cell
Modifier statisitcs
Record:
13
Gene:
7
Variant:
9
Reference:
3
Effect type:
Expressivity(13)
Modifier effect:
Risk factor(13)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
DNMT3A | DNMT3A:c.2645G>T(p.Arg882Leu) | Expressivity | Risk factor | From review article | Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogeneticsmore | more |
ASXL1 | ASXL1:p.Gly646TrpfsX12 | Expressivity | Risk factor | From review article | Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogeneticsmore | more |
ABCC3 | ABCC3:c.-211C>T | Expressivity | Risk factor | P<0.05 | We found that the ABCC3 C-211T polymorphism and GSTM1 null genotype have adverse prognostic significance in AML.more | more |