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: 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: 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: 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 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 		0.800 GeneticVariation UNIPROT 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 		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 Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia. 22318203 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 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 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
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: 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: 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: 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: 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: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.720 GeneticVariation BEFREE The RUNX1 variant rs2014300, which reduced risk in the Chinese population, was associated with an increased risk of OSCC in the Mixed Ancestry population [odds ratio (OR) = 1.33, 95% confidence interval (CI) = 1.09-1.63, P = 0.0055], and none of the five loci were associated in the Black population. 22865593 2012
dbSNP: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		0.720 GeneticVariation BEFREE RUNX1 rs2014300 was associated with risk of ESCC assuming codominant [AG/GG, 0.63(0.41-0.97), P:0.018], dominant [AG + AA/GG, 0.59 (0.39-0.89), P:0.010] and log-additive models [0.61 (0.42-0.87), P: 0.005]. 30666517 2019
dbSNP: rs2014300
rs2014300
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279626
Disease:
Squamous cell carcinoma of esophagus 		G 0.720 GeneticVariation GWASCAT Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. 25129146 2014
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR T cell acute lymphoblastic leukemia arising from familial platelet disorder. 20549580 2010
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. 10508512 1999
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation 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
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree. 28513614 2017