ASXL1, ASXL transcriptional regulator 1, 171023

N. diseases: 296; N. variants: 24
Disease: Anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002871
Disease: Anemia
Anemia 		0.010 GeneticVariation disease BEFREE In this study, we identify that physiological expression of a C-terminal truncated Asxl1 mutant in vivo using conditional knock-in (KI) results in myeloid skewing, age-dependent anemia, thrombocytosis, and morphological dysplasia. 29643185 2018