ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease BEFREE Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. 30113650 2018
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease BEFREE 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
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease 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
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease BEFREE Thus far, one man and an unrelated woman with estrogen resistance due to mutations in the estrogen receptor α (ESR1) gene have been described. 24485503 2014
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease UNIPROT This case shows that disruption of ESR1 causes profound estrogen resistance in women. 23841731 2013
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 Biomarker disease BEFREE This case shows that disruption of ESR1 causes profound estrogen resistance in women. 23841731 2013
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 Biomarker disease BEFREE Anti-estrogen resistance was recently shown to be reversed by dual ER and Src signaling blockade. 23402742 2013
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GermlineCausalMutation disease ORPHANET This case shows that disruption of ESR1 causes profound estrogen resistance in women. 23841731 2013
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 AlteredExpression disease BEFREE In estrogen receptor (ER)+ breast cancer cells, PI3K activation promotes estrogen-dependent and -independent ER transcriptional activity, which, in turn, may contribute to anti-estrogen resistance. 22114931 2011
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 Biomarker disease BEFREE Constitutive activation of NFκB in estrogen receptor (ER)-positive breast cancer is associated with tumor recurrence and development of anti-estrogen resistance. 20705611 2010
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 Biomarker disease BEFREE Breast cancer patients with an estrogen receptor (ER) positive tumor can be treated with the anti-estrogen tamoxifen, but development of anti-estrogen resistance is a serious problem. 7664983 1995
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 AlteredExpression disease BEFREE Therefore, estrogen resistance in these cells may be a result of constitutive expression and loss of E2 regulation of selected growth regulatory gene products rather than a defect in estrogen activation of ER as a transcriptional regulator. 8541224 1995
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GermlineCausalMutation disease 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
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 GeneticVariation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 SusceptibilityMutation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 CausalMutation disease CLINVAR
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE
0.790 Biomarker disease GENOMICS_ENGLAND