Source: CURATED

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 GeneticVariation UNIPROT An ESR1 mutation was identified in 2 sisters and 1 brother, originating from a consanguineous Algerian family, who did not enter puberty and presented with delayed bone maturation consistent with estrogen insensitivity. 27754803

2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 GeneticVariation UNIPROT 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 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
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.790 Biomarker GENOMICS_ENGLAND