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: 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
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: 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: 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: 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: C0040034
Disease:
Thrombocytopenia 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569084116
rs1569084116
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1569084530
rs1569084530
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		GCGCCGGCGTCCGGGGCGCCCAGCGGCAA 0.700 CausalMutation CLINVAR
dbSNP: rs267607026
rs267607026
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776809
rs587776809
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1258447643
rs1258447643
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE A major set of gene regulations in G86R muscles resembled those of surgically denervated muscles, but many others appeared specific to the ALS condition. 18000159 2008
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: rs74315451
rs74315451
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		G 0.700 CausalMutation CLINVAR A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. 12060124 2002
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: rs17227210
rs17227210
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model). 28238063 2017
dbSNP: rs17227210
rs17227210
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model). 28238063 2017
dbSNP: rs17227210
rs17227210
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE An association with BC survival and aggressive tumour characteristics was detected for the genes ATR (rs2227928: HR = 1.63; 95% CI 1.00-2.64, dominant model), RUNX1 (rs17227210: HR = 3.50, 95% CI 1.42-8.61, recessive model) and TTN (rs2303838: HR = 2.36; 95% CI 1.04-5.39; rs2042996: HR = 2.28; 95% CI 1.19-4.37, recessive model). 28238063 2017
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: rs587776809
rs587776809
Entrez Id: 861;112267915
Gene Symbol: RUNX1;LOC112267915
RUNX1;LOC112267915
CUI: C1832388
Disease:
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		T 0.700 CausalMutation CLINVAR Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. 26175287 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 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: rs2268276
rs2268276
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
CUI: C0023470
Disease:
Myeloid Leukemia 		0.010 GeneticVariation BEFREE Artificial reporters containing different rs2249650 and rs2268276 alleles showed differential activities in the K562 cell line, a human immortalized myeloid leukemia line. 26374622 2016