RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 28960434 2018
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation 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
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. 27112265 2016
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis. 26546613 2016
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 26175287 2015
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971 2015
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971 2015
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. 24532676 2015
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASDB Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs8133843
rs8133843
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		A 0.800 GeneticVariation GWASCAT Genetics of rheumatoid arthritis contributes to biology and drug discovery. 24390342 2014
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403 2013
dbSNP: rs16993221
rs16993221
Entrez Id: 861;100506403
Gene Symbol: RUNX1;LOC100506403
RUNX1;LOC100506403
CUI: C0023508
Disease:
White Blood Cell Count procedure 		A 0.800 GeneticVariation GWASCAT Genetic associations with C-reactive protein level and white blood cell count in the KARE study. 22788528 2013
dbSNP: rs16993221
rs16993221
Entrez Id: 861;100506403
Gene Symbol: RUNX1;LOC100506403
RUNX1;LOC100506403
CUI: C0023508
Disease:
White Blood Cell Count procedure 		A 0.800 GeneticVariation GWASDB Genetic associations with C-reactive protein level and white blood cell count in the KARE study. 22788528 2013
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes. 23817177 2013
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403 2013
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia. 22318203 2012
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASCAT High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
dbSNP: rs9979383
rs9979383
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.800 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 17290219 2007
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation 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
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation 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
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.800 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs74315450
rs74315450
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		0.800 GeneticVariation UNIPROT Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999