NFE2, nuclear factor, erythroid 2, 4778

N. diseases: 57; N. variants: 3
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation phenotype BEFREE Mice deficient in NFE2 develop severe thrombocytopenia with lethality resulting from neonatal hemorrhage. 30504234 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 AlteredExpression phenotype BEFREE These findings implicate the combination of megakaryocytes and the latter particles as a sink for circulating Tpo in NF-E2 knockout mice, and provide an explanation for the lack of elevated serum Tpo levels in this unique animal model of thrombocytopenia. 9292514 1997