PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
0.020 GeneticVariation disease BEFREE In addition, ZSTK474 induced apoptosis selectively in Ewing's sarcoma (RD-ES and A673), alveolar rhabdomyosarcoma (SJCRH30) and synovial sarcoma (SYO-1, Aska-SS and Yamato-SS) cell lines, all of which harbor chromosomal translocation and resulting oncogenic fusion genes, <i>EWSR1-FLI1</i>, <i>PAX3-FOXO1</i> and <i>SS18-SSX</i>, respectively. 30416685 2018
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
0.020 GeneticVariation disease BEFREE Karyotype on fresh tissue represents a genome-wide screen of gross chromosomal alterations, whereas fluorescence in situ hybridization and polymerase chain reaction detect specific defects that are characteristic of a given tumor type such as t(11;22) EWSR1-FLI1 in Ewing family tumors, t(X;18) SS18-SSX1 in synovial sarcoma, t(2;13) PAX3-FOXO1A in alveolar rhabdomyosarcoma, and MYCN gene amplification in neuroblastoma. 19214114 2009