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: rs1060502579
rs1060502579
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0741260
Disease:
Adult onset asthma 		G 0.700 GeneticVariation GWASCAT Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies. 31036433 2019
dbSNP: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0741260
Disease:
Adult onset asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11088309
rs11088309
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0004096
Disease:
Asthma 		G 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs11701104
rs11701104
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0002170
Disease:
Alopecia 		T 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs11701453
rs11701453
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		0.700 GeneticVariation GWASDB Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. 20975947 2010
dbSNP: rs117440128
rs117440128
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0948008
Disease:
Ischemic stroke 		A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis of functional outcome after ischemic stroke. 30796134 2019
dbSNP: rs121912498
rs121912498
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		C 0.700 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: rs121912498
rs121912498
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		C 0.700 CausalMutation CLINVAR RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins. 23848403 2013
dbSNP: rs121912498
rs121912498
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		C 0.700 CausalMutation CLINVAR Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles. 17290219 2007
dbSNP: rs121912499
rs121912499
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 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: rs1555884790
rs1555884790
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		GGC 0.700 CausalMutation CLINVAR Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype. 24353905 2012
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation 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
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1334068
Disease:
Hypercellular bone marrow 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0015672
Disease:
Fatigue 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0030312
Disease:
Pancytopenia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555889984
rs1555889984
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0015967
Disease:
Fever 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555899735
rs1555899735
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 GeneticVariation CLINVAR Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes. 25840971 2015
dbSNP: rs1555899813
rs1555899813
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		TCC 0.700 CausalMutation CLINVAR
dbSNP: rs1569002296
rs1569002296
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 GeneticVariation CLINVAR Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. 20846103 2010
dbSNP: rs1569008655
rs1569008655
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs1569061762
rs1569061762
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569061768
rs1569061768
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: rs1569061768
rs1569061768
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR