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: rs10483028
rs10483028
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE SNP rs10483028 was associated with breast cancer in women with a BMI below 25 kg/m(2) (OR = 1.26, 95% CI 1.15-1.38) but not in women with a BMI of 30 kg/m(2) or higher (OR = 0.89, 95% CI 0.72-1.11, P for interaction = 3.2 × 10(-05)). 24248812 2014
dbSNP: rs10483028
rs10483028
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE SNP rs10483028 was associated with breast cancer in women with a BMI below 25 kg/m(2) (OR = 1.26, 95% CI 1.15-1.38) but not in women with a BMI of 30 kg/m(2) or higher (OR = 0.89, 95% CI 0.72-1.11, P for interaction = 3.2 × 10(-05)). 24248812 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
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279644
Disease:
Childhood Acute Myelomonocytic Leukemia
0.010 GeneticVariation BEFREE We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. 28513614 2017
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023479
Disease:
Acute myelomonocytic leukemia
0.010 GeneticVariation BEFREE We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. 28513614 2017
dbSNP: rs1057519748
rs1057519748
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0279627
Disease:
Adult Acute Myelomonocytic Leukemia
0.010 GeneticVariation BEFREE We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. 28513614 2017
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 24374719 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
G 0.700 GeneticVariation CLINVAR Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 24616160 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR RUNX1 mutation associated with clonal evolution in relapsed pediatric acute myeloid leukemia with t(16;21)(p11;q22). 24374719 2014
dbSNP: rs1057519749
rs1057519749
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
A 0.700 GeneticVariation CLINVAR Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA. 24616160 2014
dbSNP: rs1057519750
rs1057519750
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation CLINVAR Clinical impact of gene mutations and lesions detected by SNP-array karyotyping in acute myeloid leukemia patients in the context of gemtuzumab ozogamicin treatment: results of the ALFA-0701 trial. 24659740 2014
dbSNP: rs1057519750
rs1057519750
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
T 0.700 GeneticVariation CLINVAR High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. 19357396 2009
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: 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: 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 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 Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders. 28960434 2018
dbSNP: rs1060499616
rs1060499616
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy
0.800 GeneticVariation UNIPROT