Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 GermlineCausalMutation ORPHANET This case shows that disruption of ESR1 causes profound estrogen resistance in women. 23841731

2013
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 GermlineCausalMutation ORPHANET A 28-year-old man whose estrogen resistance was caused by a disruptive mutation in the estrogen-receptor gene underwent studies of pituitary-gonadal function and bone density and received transdermal estrogen for six months. 8090165

1994