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 CausalMutation disease CLINVAR Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 17290219 2007
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 AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. 14966519 2004
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 CausalMutation disease CLINVAR A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. 12060124 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 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 GeneticVariation disease UNIPROT Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease CTD_human