Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)
|
9746808 |
1998 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.
|
10508512 |
1999 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta.
|
10856244 |
2000 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.
|
11830488 |
2002 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.
|
12060124 |
2002 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Role of RUNX1 in adult hematopoiesis: analysis of RUNX1-IRES-GFP knock-in mice reveals differential lineage expression.
|
14630789 |
2004 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis.
|
14966519 |
2004 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.
|
17290219 |
2007 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
|
18478040 |
2008 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
The platforms used were global gene expression profiling of: 1) cell lines with RUNX1 mutations from FPD-AML patients, 2) over-expression of RUNX1 and CBFbeta, and 3) Runx1 knockout mouse embryos using either cDNA or Affymetrix microarrays.
|
18671852 |
2008 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.
|
18723428 |
2008 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
|
19357396 |
2009 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?
|
19387465 |
2009 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
T cell acute lymphoblastic leukemia arising from familial platelet disorder.
|
20549580 |
2010 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
|
20846103 |
2010 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia.
|
22318203 |
2012 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.
|
23817177 |
2013 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |