PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Solid Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 GeneticVariation phenotype BEFREE We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma. 8098985 1993