Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.310 GeneticVariation disease BEFREE Because this region frequently is altered in neoplasms and in the genetic disease Beckwith-Wiedemann syndrome, we carried out a mutational analysis in tumor cell lines and Beckwith-Wiedemann syndrome samples that resulted in the identification of genetic alterations in the BWR1A gene: an insertion that introduced a stop codon in the breast cancer cell line BT549 and a point mutation in the rhabdomyosarcoma cell line TE125-T. 9520460 1998
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.310 GeneticVariation disease UNIPROT