ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Disease: 46, XY Disorders of Sex Development ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		0.010 GeneticVariation group BEFREE We identified a homozygous ESR2 variant, c.541_543del p.(Asn181del), located in the highly conserved DNA-binding domain of ER-β, in an individual with syndromic 46,XY DSD. 29261182 2018