PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Uranostaphyloschisis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 GeneticVariation disease BEFREE De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate. 24753315 2014