EPHA4, EPH receptor A4, 2043

N. diseases: 118; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
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