EVPL, envoplakin, 2125

N. diseases: 66; N. variants: 0
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 Although the Philadelphia chromosome, which generates p210(bcr/abl), is a unique chromosomal abnormality in the chronic phase, additional chromosomal abnormalities are frequently detected in the blast crisis, suggesting that superimposed genetic events are responsible for disease progression. 10666183 2000
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.020 GeneticVariation group BEFREE An altered c-abl protein (P210) bearing increased tyrosine kinase activity represents the product of the hybrid bcr/c-abl gene arising as a consequence of the Philadelphia (Ph1) chromosome translocation, the consistent cytogenetic abnormality of chronic myelogenous leukemia (CML). 2511093 1990