EMX2, empty spiracles homeobox 2, 2018

N. diseases: 59; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 Biomarker group BEFREE Vesicoureteral reflux and other urinary tract malformations in mice compound heterozygous for Pax2 and Emx2. 21731775 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.020 GeneticVariation group BEFREE While initial reports suggested that EMX2 mutations are a common cause of schizencephaly, more recent evidence suggests that EMX2 mutations are not a common cause of this malformation. 17506092 2007