DisGeNET - a database of gene-disease associations

RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555899813

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

TCC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1060499616

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

CausalMutation

CLINVAR

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

10508512

1999

dbSNP:

rs1060499616

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

GeneticVariation

CLINVAR

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

10508512

1999

dbSNP:

rs1060499616

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

CausalMutation

CLINVAR

Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

28960434

2018

dbSNP:

rs1060499616

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

CausalMutation

CLINVAR

Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

17290219

2007

dbSNP:

rs74315450

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

CausalMutation

CLINVAR

RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

23817177

2013

dbSNP:

rs74315450

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.800

CausalMutation

CLINVAR

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

10508512

1999

dbSNP:

rs1057519750

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

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

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

CLINVAR

High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

19357396

2009

dbSNP:

rs11701104

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C0002170
Disease:

Alopecia

0.700

GeneticVariation

GWASCAT

Genetic prediction of male pattern baldness.

28196072

2017

dbSNP:

rs121912499

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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:

rs1555899735

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.700

GeneticVariation

CLINVAR

Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

25840971

2015

dbSNP:

rs1569002296

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

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:

rs1569061762

Entrez Id:	861
Gene Symbol:	RUNX1

RUNX1

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs267607026

Entrez Id:	861;112267915
Gene Symbol:	RUNX1;LOC112267915

RUNX1;LOC112267915

CUI:	C1832388
Disease:

Platelet Disorder, Familial, with Associated Myeloid Malignancy

0.700

GeneticVariation

CLINVAR

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

27112265

2016