EFNB2, ephrin B2, 1948

N. diseases: 109; N. variants: 4
Disease: Congenital malformation of genital organs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		0.020 GeneticVariation group BEFREE This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. 20105145 2010
CUI: C0158687
Disease: Congenital malformation of genital organs
Congenital malformation of genital organs 		0.020 Biomarker group BEFREE Karyotype-phenotype comparisons of these and eight previously published del13q33-34 patients suggest EFNB2 as a candidate gene for genital malformations in males. 18203171 2008