RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Disease: Platelet Storage Pool Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.020 Biomarker disease BEFREE Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency. 28075530 2017
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		0.020 GeneticVariation disease BEFREE RUNX1 (AML1, CBFA2) is mutated in affected members of families with autosomal dominant thrombocytopenia and platelet dense granule storage pool deficiency. 15061191 2004