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 CTD_human
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 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 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 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
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 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 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 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 GeneticVariation 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 Biomarker disease GENOMICS_ENGLAND Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. 18478040 2008
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 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 GermlineCausalMutation disease ORPHANET Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. 18723428 2008
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 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 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 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 CausalMutation disease CLINVAR Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype. 24353905 2012
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
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