Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
0.040 AlteredExpression disease BEFREE In contrast, lymphoblastoid cell lines from individuals with partial trisomy 21 having only two DYRK1A copies displayed increased BDNF levels. 22669612 2012
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
0.040 Biomarker disease BEFREE We have used DS fetal brain samples in search for initial evidence and employed engineered mice with MMU16 partial trisomy (Ts65Dn) or direct excess of the splicing-associated nuclear kinase Dyrk1A, overdosed in DS for further analyses. 20600907 2010
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
0.040 GeneticVariation disease BEFREE Increased dosage of DYRK1A and brain volumetric alterations in a YAC model of partial trisomy 21. 18231969 2008
CUI: C1297882
Disease: Partial Trisomy
Partial Trisomy
0.040 Biomarker disease BEFREE These alterations are comparable with those found in the partial trisomy chromosome 16 murine models of DS and suggest a causative role of DYRK1A in mental retardation and in motor anomalies of DS. 11555628 2001