RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Disease: Pancytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.130 Biomarker disease BEFREE Here, we show that Runx1;Runx3 double-knockout (DKO) mice exhibited lethal phenotypes due to bone marrow failure and myeloproliferative disorder. 25066130 2014
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.130 Biomarker disease BEFREE In two cases of SDS with bone marrow failure and isolated del(20q) interphase fluorescence in situ hybridization (I-FISH) found no abnormalities in FHIT/3p14.2, IKZF1/7p13, D7S486/7q31, PTEN/10q23.3, WT1/11p13, ATM/11q23, D13S25/13q14, TP53/17p13, NF1/17q11, SMAD2/18q21, RUNX1/21q22. 19016724 2009
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.130 GeneticVariation disease BEFREE On the other hand, a C-terminal truncated AML1 mutant (S291fsX300) induced pancytopenia with erythroid dysplasia in transplanted mice, followed by progression to MDS-RAEB or MDS/AML. 18192504 2008
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.130 GeneticVariation disease LHGDN On the other hand, a C-terminal truncated AML1 mutant (S291fsX300) induced pancytopenia with erythroid dysplasia in transplanted mice, followed by progression to MDS-RAEB or MDS/AML. 18192504 2008
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.130 GeneticVariation disease CLINVAR