|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
GeneticVariation
|
UNIPROT |
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.
|
20847235 |
2010 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 2
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
CausalMutation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
CausalMutation
|
CLINVAR |
Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.
|
22417203 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
CausalMutation
|
CLINVAR |
The role of mutations in epigenetic regulators in myeloid malignancies.
|
22898539 |
2012 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
CausalMutation
|
CLINVAR |
Impact of genetic features on treatment decisions in AML.
|
22160010 |
2011 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
Multiple Myeloma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Squamous cell carcinoma of the head and neck
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
MYELODYSPLASTIC SYNDROME
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Colorectal Neoplasms
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
Combined D-2- and L-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
D-2-hydroxyglutaric aciduria
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
D-2-HYDROXYGLUTARIC ACIDURIA 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
The recent discovery of heterozygous isocitrate dehydrogenase 2 (IDH2) mutations of residue Arg(140) to Gln(140) or Gly(140) (IDH2(wt/R140Q), IDH2(wt/R140G)) in d-2-hydroxyglutaric aciduria (D-2-HGA) has defined the primary genetic lesion in 50% of D-2-HGA patients, denoted type II.
|
21889589 |
2011 |
|
Primary Myelofibrosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |
|
Polycythemia Vera
|
|
0.010 |
GeneticVariation
|
BEFREE |
IDH2 mutations included R140Q (n=3; one post-PMF AML, one post-PV AML and one PMF) and a novel R140W (n=1; mutation found in both chronic- and blast-phase samples).
|
20410924 |
2010 |