RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease BEFREE Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients. 24732596 2014
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 CausalMutation disease CLINVAR Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree. 28513614 2017
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease CLINGEN Runx1 is required for progression of CD41+ embryonic precursors into HSCs but not prior to this. 25139854 2014
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 CausalMutation disease CLINVAR T cell acute lymphoblastic leukemia arising from familial platelet disorder. 20549580 2010
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease CLINGEN Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects. 25114263 2014
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease GENOMICS_ENGLAND The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254 2016
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 CausalMutation disease CLINVAR Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 28960434 2018