NUP214, nucleoporin 214, 8021

N. diseases: 62; N. variants: 16
Disease: Congenital chromosomal disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 Biomarker group BEFREE Conventional cytogenetic analysis revealed complex chromosomal aberrations in all four SET-NUP214 rearranged cases and del(12)(p13)/ETV6 was frequently involved. 21720744 2012
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 GeneticVariation group BEFREE The t(6;9)(p23;q34) is a recurrent chromosomal abnormality observed in 1% of acute myelogenous leukemia (AML), which generates a fusion transcript between DEK and CAN/NUP214 genes. 15973457 2005