WDR48, WD repeat domain 48, 57599

N. diseases: 57; N. variants: 3
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 		0.010 GeneticVariation group BEFREE These in vitro studies have demonstrated that the proliferation is characterized by a unique chromosomal abnormality, the 5q35bp usually associated with a t(2;5) translocation generating a fusion gene NPM/ALK and the subsequent translation of p80 protein. 9561912 1998