ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria
0.020 Biomarker phenotype BEFREE We postulate that CHT in GD could drive changes at the androgen receptor (AR), estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2), affecting their DNA methylation pattern and mRNA expression that may influence in the phenotypical changes associated to CHT. 28539237 2017
CUI: C0686346
Disease: Gender Dysphoria
Gender Dysphoria
0.020 Biomarker phenotype BEFREE With the discovery that estrogen receptor β is associated with female-to-male (FtM) but not with male-to-female (MtF) gender dysphoria, and given estrogen receptor α involvement in central nervous system masculinization, it was hypothesized that estrogen receptor α, encoded by the ESR1 gene, also might be implicated. 28117266 2017