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 Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. 27112265 2016
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 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 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 Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia. 28748566 2017
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 Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971 2015
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 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 CausalMutation disease CLINVAR Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 28960434 2018
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 Biomarker disease CTD_human
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 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 GeneticVariation disease BEFREE Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare platelet disorder caused by mutations in RUNX1. 31698193 2019
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.730 CausalMutation disease CLINVAR Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 26175287 2015
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 A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India. 30990344 2019
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 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 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 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 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 GENOMICS_ENGLAND Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999